diff --git a/README.md b/README.md index 09e943e..844eac3 100644 --- a/README.md +++ b/README.md @@ -15,7 +15,7 @@ These and other stats are returned on a per variant basis, in a table, and addit ## Code Example ```bash -usage: clinotator.py [-h] [--log] [-o prefix] [--version] -e EMAIL -t {vid,rsid,vcf} file [file ...] +usage: clinotator.py [-h] [--log] [--long-log] [-o prefix] [--version] -e EMAIL -t {vid,rsid,vcf} file [file ...] Clinical interpretation of ambiguous ClinVar annotations @@ -25,6 +25,7 @@ positional arguments: optional arguments: -h, --help show this help message and exit --log create logfile + --long-log create detailed logfile -o prefix choose an alternate prefix for outfiles --version show program's version number and exit @@ -72,7 +73,7 @@ WARNING:root:ClinVar significance for 3521 does not include B,B/LB,LB,US,LP,LP/P WARNING:root:VID: 55794 does not have valid clinical assertions! ``` -The warnings, as well as some additional information can be stored in the log file with `--log` +The warnings, as well as some additional information can be stored in the log file with `--log`. `--long-log` will store detailed debugging information, but the file will be larger than the output tsv file. Both log files append information, so batch runs or especially large lists of variants may result in large file sizes. ### Dependencies diff --git a/clinotator/clinotator.py b/clinotator/clinotator.py index 4579ebc..bafd6eb 100755 --- a/clinotator/clinotator.py +++ b/clinotator/clinotator.py @@ -48,6 +48,7 @@ def getargs(): description='Clinical interpretation of ambiguous' ' ClinVar annotations') parser.add_argument('--log', action='store_true', help='create logfile') + parser.add_argument('--long-log', action='store_true', help='create detailed logfile') parser.add_argument('-o', metavar='prefix', dest='outprefix', default='clinotator', help='choose an alternate prefix for outfiles') @@ -67,6 +68,17 @@ def getargs(): 'vcf - vcf file (output vcf generated)') return parser.parse_args() +# choosing log options +def log_opts(log, long_log, outprefix): + if log: + logging.basicConfig(level=logging.WARN, + filename="{}.log".format(outprefix)) + elif long_log: + logging.basicConfig(level=logging.DEBUG, + filename="{}.log".format(outprefix)) + else: + logging.basicConfig(level=logging.WARN) + # how to handle file types, returns vcf_tbl or False for output def input_selection(file_type, file, outprefix, query_results): try: @@ -89,13 +101,14 @@ def input_selection(file_type, file, outprefix, query_results): return vcf_tbl except IOError as e: - logging.fatal(error_handling()) + logging.critical(error_handling()) print('Unable to open file, {}'.format(error_handling())) except: - logging.fatal(error_handling()) + logging.critical(error_handling()) # exploding list cells in dataframe into separate rows. +# function courtesy of @MaxU on stackoverflow question-12680754 def explode(df, lst_cols, fill_value=''): # make sure `lst_cols` is a list if lst_cols and not isinstance(lst_cols, list): @@ -147,19 +160,16 @@ def output_files(vcf_tbl, variant_objects, outprefix): index=False, na_rep='.') return + def main(): args = getargs() - - if args.log: - logging.basicConfig(level=logging.DEBUG, filename="clinotator.log") - else: - logging.basicConfig(level=logging.WARN) - - Entrez.email = args.email + log_opts(args.log, args.long_log, args.outprefix) logging.debug('CLI inputs are {} {} {} {}' .format(args.type, args.email, args.input, args.outprefix)) + Entrez.email = args.email for file in args.input: + logging.warning('Starting on {}'.format(file)) query_results = [] variant_objects = [] base = os.path.basename(file) @@ -175,7 +185,7 @@ def main(): output_files(vcf_tbl, variant_objects, outprefix) logging.debug('file written to {}.tsv'.format(outprefix)) - sys.exit() + sys.exit() if __name__ == '__main__': main() \ No newline at end of file diff --git a/clinotator/getncbi.py b/clinotator/getncbi.py index cba7ebb..6441f69 100644 --- a/clinotator/getncbi.py +++ b/clinotator/getncbi.py @@ -28,37 +28,8 @@ def timing_tool(): except: return time.time() -# getting xml variation files for query_results list, -def get_ncbi_xml(file_type, id_list, query_results): - logging.debug('{} list -> {}'.format(file_type, id_list)) - start = timing_tool() - staging_list = [] - id_list = list(filter(None, id_list)) # costs ~ 6 sec per 50k list - - if file_type == 'rsid': - webenv2, query_key2 = post_ncbi(file_type, 'epost', db='snp', - id=",".join(id_list)) - webenv1, query_key1 = post_ncbi(file_type, 'elink', db='clinvar', - webenv=webenv2, query_key=query_key2, - dbfrom='snp', linkname='snp_clinvar', - cmd='neighbor_history') - elif file_type == 'vid': - webenv1, query_key1 = post_ncbi(file_type, 'epost', db='clinvar', - id=",".join(id_list)) - else: - logging.fatal('Error: Incorrect file_type argument in get_rsid_xml ->' - ' {}'.format(file_type)) - - batch_ncbi('efetch', staging_list, id_list, db='clinvar', - rettype='variation', retmax=g.batch_size, webenv=webenv1, - query_key=query_key1) - [query_results.append(batch) for batch in staging_list] - stop = timing_tool() - logging.debug('Download time: {} min, Batches run -> {}' - .format(((stop-start)/60), len(query_results))) - return - -# epost or elink list to e-utilities history server for target db. +# epost list to e-utilities history server for target db. +# Can't elink over 1000, no max on epost def post_ncbi(file_type, query_type, **kwargs): logging.debug('{} to ncbi using kwargs: {}'.format(query_type, kwargs)) handle = getattr(Entrez, query_type)(**kwargs) @@ -77,39 +48,41 @@ def post_ncbi(file_type, query_type, **kwargs): .format(webenv, query_key)) return webenv, query_key -# Utilized for batch efetch/esummary from ncbi. HTTPError and retry +# Utilized for batch efetch/esummary from ncbi using history server. def batch_ncbi(query_type, query_results, id_list, **kwargs): count = len(id_list) - for start in range(0, count, g.batch_size): - end = min(count, start + g.batch_size) + for start in range(0, count, g.efetch_batch): + end = min(count, start + g.efetch_batch) logging.debug('{} run with {}' .format(query_type, dict(retstart=start, **kwargs))) - print("Going to download record %i to %i" % (start+1, end)) - attempt = 0 - while attempt < 3: - attempt += 1 + print("Going to download record {} to {}".format(start + 1, end)) + for attempt in range(4): # HTTPError and retry three times try: fetch_handle = getattr(Entrez, query_type) \ (**dict(retstart=start, **kwargs)) - except ValueError as oops: - logging.warning('Likely total = batch size') + logging.warning('Empty set: Likely total number = batch size') break - except HTTPError as err: if 500 <= err.code <= 599: - print("Received error from server %s" % err) - print("Attempt %i of 3" % attempt) - logging.debug(err) + print("Attempt {} of 4".format(attempt + 1)) + logging.warning(err) time.sleep(15) elif err.code == 400: + print("Attempt {} of 4".format(attempt + 1)) logging.warning(err) sys.tracebacklimit = None - break + time.sleep(15) else: raise + else: + break + else: + logging.critical('Failed to connect to NCBI 4 times exiting...') + sys.exit() + # Ideally Entrez.read would import as python object, and validate with # ClinVar, but ClinVar no longer declares DOCTYPE for validation in # their xml returns. They have .xsd for this purpose, but users @@ -121,3 +94,74 @@ def batch_ncbi(query_type, query_results, id_list, **kwargs): # fetch_handle.close() query_results.append(fetch_handle.read()) return + +# E-utilities batch queries w/o history server, useful for elink. +# Unreliable over batch size of 1000 +def batch_nohist(query_type, id_list, **kwargs): + count = len(id_list) + result_list = [] + + for start in range(0, count, g.elink_batch): + end = min(count, start + g.elink_batch) + logging.debug('{} run with {}' + .format(query_type, + dict(id=",".join(id_list[start:end]), **kwargs))) + print("Looking up VIDs for rsIDs {} to {}".format(start + 1, end)) + + for attempt in range(4): # HTTPError and retry three times + try: + fetch_handle = getattr(Entrez, query_type) \ + (**dict(id=",".join(id_list[start:end]), **kwargs)) + except ValueError as oops: + logging.warning('Empty set: Likely total number = batch size') + break + except HTTPError as err: + if 500 <= err.code <= 599: + print("Attempt {} of 4".format(attempt + 1)) + logging.warning(err) + time.sleep(15) + elif err.code == 400: + print("Attempt {} of 4".format(attempt + 1)) + logging.warning(err) + sys.tracebacklimit = None + time.sleep(15) + else: + raise + else: + break + else: + logging.critical('Failed to connect to NCBI 4 times, exiting...') + sys.exit() + + record = Entrez.read(fetch_handle) + result_list.extend( + [link['Id'] for link in record[0]['LinkSetDb'][0]['Link']]) + return result_list + +# getting xml variation files for query_results list, +# main +def get_ncbi_xml(file_type, id_list, query_results): + logging.debug('{} list -> {}'.format(file_type, id_list)) + start = timing_tool() + staging_list = [] + + if file_type == 'rsid': + id_list = list(filter(None, id_list)) # costs ~ 6 sec per 50k list + vid_list = batch_nohist('elink', id_list, db='clinvar', + dbfrom='snp', linkname='snp_clinvar') + elif file_type == 'vid': + vid_list = list(filter(None, id_list)) # costs ~ 6 sec per 50k list + else: + logging.critical('Error: Incorrect file_type argument in get_rsid_xml ->' + ' {}'.format(file_type)) + + webenv1, query_key1 = post_ncbi(file_type, 'epost', db='clinvar', + id=",".join(vid_list)) + batch_ncbi('efetch', staging_list, vid_list, db='clinvar', + rettype='variation', retmax=g.efetch_batch, webenv=webenv1, + query_key=query_key1) + [query_results.append(batch) for batch in staging_list] + stop = timing_tool() + logging.info('Download time: {} min, Batches run -> {}' + .format(((stop-start)/60), len(query_results))) + return diff --git a/clinotator/global_vars.py b/clinotator/global_vars.py index e008e19..9d6fd50 100644 --- a/clinotator/global_vars.py +++ b/clinotator/global_vars.py @@ -10,13 +10,14 @@ See main, eventually tests will be added for this module ''' -__version__ = "0.2.4" +__version__ = "0.3.0" ### getncbi.py global variables # batch size for querying NCBI, not above 5000 -batch_size = 4500 +elink_batch = 1000 +efetch_batch = 4500 # name of software for ncbi query tagging (preferred by NCBI) etool = 'Clinotator' diff --git a/clinotator/variation.py b/clinotator/variation.py index 7b7a929..0e0f455 100644 --- a/clinotator/variation.py +++ b/clinotator/variation.py @@ -59,7 +59,7 @@ def average_list_age(vid, age_list): return np.nanmean(age_list) except: - logging.warn('VID: {} does not have valid clinical assertions!' + logging.warning('VID: {} does not have valid clinical assertions!' .format(vid)) return None @@ -69,7 +69,7 @@ def key_test(test_dict, test_key): try: return test_dict[test_key] except KeyError: - logging.warn('{} is not an expected key'.format(test_key)) + logging.warning('{} is not an expected key'.format(test_key)) # evaluates reclassification recommendation for CTRR def reclassification_tree(ctps_index, cvcs_index): @@ -172,7 +172,7 @@ def observation_parse(self, variationreport): elif (observation.get('VariationID') == self.VID and run_already): - logging.warn('{} has multiple observation fields in its recor' + logging.warning('{} has multiple observation fields in its recor' 'd omitting as an annotation error. Check rsid(s' ') {} manually'.format(self.VID, self.RSID)) continue @@ -199,7 +199,7 @@ def assertion_table_stats(self, variationreport): .find('./ClinicalSignificance') .get('DateLastEvaluated')) except: - logging.warn('{} has a missing assertion date!' + logging.warning('{} has a missing assertion date!' .format(self.VID)) continue @@ -247,11 +247,11 @@ def analysis_stats(self): run_already = True cvcs_index = 3 elif clinsig in [x[0] for x in g.ctps_cutoffs] and run_already: - logging.warn('multiple CVCS statements for {}, only using fir' - 'st one!'.format(self.VID)) + logging.warning('multiple CVCS statements for {}, only using ' + 'first one!'.format(self.VID)) if cvcs_index is None: - logging.warn('ClinVar significance for {} does not include B,B/LB' + logging.warning('ClinVar significance for {} does not include B,B/LB' ',LB,US,LP,LP/P,P'.format(self.VID)) self.CTPS = None self.CTRR = 0 diff --git a/test/clinotator.clinvar_ge_2str.tsv b/test/clinotator.clinvar_ge_2str.tsv deleted file mode 100644 index 1f04dd0..0000000 --- a/test/clinotator.clinvar_ge_2str.tsv +++ /dev/null @@ -1,55326 +0,0 @@ -VID CVVT RSID CVMA vcfmatch CVCS CVSZ CVNA CVDS CVLE CTRS CTAA CTPS CTRR -29 Simple 397509360 - . Pathogenic 2 2 Primary hyperoxaluria, type III 2017-01-25 10.8 2.0 Pathogenic/Likely pathogenic 1 -36 Simple 200691042 A . Pathogenic 2 3 Retinitis pigmentosa 28;not provided 2016-10-18 18.0 1.0 Pathogenic 0 -37 Simple 397704718 - . Pathogenic 2 2 Retinitis pigmentosa 28;not provided 2016-11-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -38 Simple 202193201 A . Pathogenic 2 2 Retinitis pigmentosa 28 2016-10-18 12.0 1.0 Pathogenic/Likely pathogenic 1 -55 Simple 267606717 G . Pathogenic/Likely pathogenic 2 2 Primary autosomal recessive microcephaly 9;not provided 2016-02-10 5.1 2.5 Likely pathogenic 1 -97 Simple 1801198 C . Benign 2 2 Transcobalamin II deficiency;TCN2 POLYMORPHISM;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -117 Simple 121964962 T . Pathogenic 2 5 Homocystinuria due to CBS deficiency;HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED;Homocystinuria, pyridoxine-nonresponsive;Homocystinuria;not provided 2017-07-19 28.2 1.4 Pathogenic 0 -119 Simple 121964964 A . Pathogenic/Likely pathogenic 2 3 Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-responsive;not provided 2017-03-01 12.0 1.0 Pathogenic/Likely pathogenic 0 -120 Simple 5742905 G . Pathogenic 2 8 Homocystinuria due to CBS deficiency;HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED;Homocystinuria, pyridoxine-responsive;Homocystinuria;Thoracic aortic aneurysm and aortic dissection;not specified;not provided 2017-10-31 45.0 1.375 Pathogenic 0 -122 Simple 121964966 T . Pathogenic/Likely pathogenic 2 3 Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-responsive 2017-04-13 10.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -126 Simple 28934891 T . Pathogenic/Likely pathogenic 2 4 Homocystinuria due to CBS deficiency;HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED;Homocystinuria, pyridoxine-responsive;not provided 2017-07-19 18.9 1.75 Pathogenic 1 -128 Simple 375846341 G . Pathogenic 2 3 Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-responsive;not provided 2016-09-12 16.8 1.6666666666666667 Pathogenic 0 -131 Simple 121964972 A . Pathogenic/Likely pathogenic 2 4 Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-nonresponsive;Thoracic aortic aneurysm and aortic dissection;not provided 2017-07-18 16.8 3.0 Pathogenic 1 -132 Simple 121964973 A . Pathogenic 2 2 Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-nonresponsive;not provided 2016-09-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -197 Simple 201108965 T . Pathogenic 2 5 Joubert syndrome;Joubert syndrome 2;Meckel syndrome type 2;not provided 2016-09-21 27.6 1.8 Pathogenic 0 -244 Simple 1800457 C . Benign 2 1 NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM;not specified 2017-04-17 . 0.0 . 0 -268 Simple 267607003 T . Pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1S;Dilated cardiomyopathy 1DD;not provided 2016-11-17 17.4 1.3333333333333333 Pathogenic 0 -269 Simple 267607001 A . Pathogenic 2 2 Dilated cardiomyopathy 1DD;not provided 2017-05-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -270 Simple 267607002 A . Pathogenic/Likely pathogenic 2 4 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1DD;not provided 2017-06-06 19.2 2.0 Pathogenic 1 -271 Simple 267607004 A . Pathogenic/Likely pathogenic 2 6 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1DD;not provided 2017-09-26 31.2 1.0 Pathogenic 1 -296 Simple 41276738 T . Pathogenic 2 6 von Willebrand disorder;von Willebrand disease type 2N;von Willebrand disease type 1;von Willebrand disease type 2;not specified;not provided 2017-07-18 34.2 1.0 Pathogenic 0 -343 Simple 137854552 T . Pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-15 16.8 1.3333333333333333 Pathogenic 0 -344 Simple 137854560 T . Pathogenic 2 4 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 22.200000000000003 1.5 Pathogenic 0 -346 Simple 267606600 - . Pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-02-15 16.8 1.6666666666666667 Pathogenic 0 -359 Simple 267606604 G . Pathogenic 2 2 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -361 Simple 137854562 T . Pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-09-15 16.8 1.3333333333333333 Pathogenic 0 -363 Simple 267606606 - . Pathogenic 2 3 Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 16.8 1.0 Pathogenic 0 -401 Simple 113560320 A . Pathogenic 2 2 Paragangliomas 2;not provided;Hereditary cancer-predisposing syndrome 2017-09-06 10.8 1.5 Pathogenic/Likely pathogenic 1 -418 Simple 10250779 T . Pathogenic 2 2 Glycogen storage disease type X;not provided 2017-02-15 10.8 2.0 Pathogenic/Likely pathogenic 1 -432 Simple 3918290 T . drug response 3 5 Dihydropyrimidine dehydrogenase deficiency;Hirschsprung disease 1;Fluorouracil response;not provided;Pyrimidine analogues response - Toxicity/ADR;capecitabine response - Toxicity/ADR;fluorouracil response - Toxicity/ADR;tegafur response - Toxicity/ADR . 29.4 0.8 . 0 -464 Simple 1800546 G . Pathogenic 2 5 Hereditary fructosuria;not provided 2017-07-10 27.0 1.8 Pathogenic 0 -465 Simple 76917243 T . Pathogenic 2 3 Hereditary fructosuria;not provided 2016-04-11 16.8 1.6666666666666667 Pathogenic 0 -469 Simple 78340951 C . Pathogenic 2 2 Hereditary fructosuria 2016-03-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -540 Simple 183973249 G . Pathogenic 2 3 Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2;not provided 2017-11-16 18.0 0.0 Pathogenic 0 -576 Simple 5030861 T . Pathogenic 2 4 Phenylketonuria;not provided 2017-10-19 22.8 0.75 Pathogenic 0 -577 Simple 5030858 A . Pathogenic 2 8 Phenylketonuria;not provided 2017-08-07 45.6 1.125 Pathogenic 0 -580 Simple 62508698 T . Pathogenic 2 5 Phenylketonuria;not provided 2017-08-04 28.2 1.2 Pathogenic 0 -581 Simple 76296470 A . Pathogenic 2 3 Phenylketonuria;not provided 2017-05-03 16.2 1.6666666666666667 Pathogenic 0 -582 Simple 5030849 T . Pathogenic/Likely pathogenic 2 6 Phenylketonuria;not provided 2017-08-10 30.9 1.1666666666666667 Pathogenic 1 -584 Simple 5030847 A . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2017-08-07 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -586 Simple 62514891 C . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;Hyperphenylalaninemia, non-pku;not provided 2015-09-29 7.800000000000001 2.5 Likely pathogenic 1 -587 Simple 5030843 T . Pathogenic 2 6 Phenylketonuria;not provided 2017-07-07 34.8 0.6666666666666666 Pathogenic 0 -588 Simple 5030846 A . Pathogenic 2 4 Phenylketonuria;not provided 2017-07-11 22.2 1.5 Pathogenic 0 -589 Simple 5030851 A . Pathogenic 2 4 Phenylketonuria;not provided 2017-10-19 22.8 1.0 Pathogenic 0 -590 Simple 62514927 C . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2017-07-20 8.4 1.5 Pathogenic/Likely pathogenic 0 -591 Simple 62508588 T . Pathogenic 2 3 Phenylketonuria;not provided 2017-05-04 17.4 1.0 Pathogenic 0 -592 Simple 79931499 G . Pathogenic 2 2 Phenylketonuria;not provided 2016-12-19 12.0 1.0 Pathogenic/Likely pathogenic 1 -593 Simple 5030860 C . Pathogenic 2 7 Phenylketonuria;Hyperphenylalaninemia, non-pku;not provided 2017-05-18 40.8 0.8571428571428571 Pathogenic 0 -594 Simple 62514907 T . Pathogenic 2 2 Phenylketonuria;not provided 2017-03-28 10.8 1.5 Pathogenic/Likely pathogenic 1 -595 Simple 62516095 C . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2017-05-03 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -596 Simple 62514952 A . Pathogenic 2 2 Phenylketonuria;not provided 2017-03-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -599 Simple 5030852 T . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2017-07-24 8.4 1.5 Pathogenic/Likely pathogenic 0 -603 Simple 78655458 C . Pathogenic 2 3 Phenylketonuria;not provided 2016-10-05 16.8 1.6666666666666667 Pathogenic 0 -604 Simple 62508727 - . Pathogenic/Likely pathogenic 2 5 Phenylketonuria;not provided 2017-08-14 24.6 1.2 Pathogenic 1 -605 Simple 62642926 C . Pathogenic 2 5 Phenylketonuria;not provided 2017-07-24 28.2 1.2 Pathogenic 0 -607 Simple 5030855 T . Pathogenic 2 5 Phenylketonuria;not provided 2017-10-20 28.8 0.8 Pathogenic 0 -608 Simple 5030841 G . Pathogenic 2 5 Phenylketonuria;not provided 2017-03-30 26.400000000000002 2.0 Pathogenic 0 -610 Simple 5030850 A . Pathogenic 2 3 Phenylketonuria;not provided 2017-05-04 16.2 1.6666666666666667 Pathogenic 0 -611 Simple 199475566 - . Pathogenic/Likely pathogenic 2 4 Phenylketonuria;not provided 2017-01-26 18.6 2.25 Pathogenic 1 -612 Simple 5030859 T . Pathogenic 2 2 Phenylketonuria;not provided 2016-03-15 10.8 2.0 Pathogenic/Likely pathogenic 1 -613 Simple 62642933 C . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2017-04-21 13.2 2.0 Pathogenic/Likely pathogenic 0 -615 Simple 62508646 G . Pathogenic/Likely pathogenic 2 6 Phenylketonuria;not provided 2017-09-20 31.2 1.1666666666666667 Pathogenic 1 -617 Simple 62644499 T . Pathogenic 2 3 Phenylketonuria;Hyperphenylalaninemia, non-pku;not provided 2017-07-20 15.600000000000001 2.0 Pathogenic 0 -618 Simple 62642934 C . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;Hyperphenylalaninemia, non-pku;not provided 2017-05-18 5.4 1.5 Likely pathogenic 1 -619 Simple 62516101 T . Pathogenic 2 3 Phenylketonuria;not provided 2017-06-14 16.2 1.6666666666666667 Pathogenic 0 -623 Simple 62507344 A . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2014-11-06 7.199999999999999 3.0 Likely pathogenic 1 -625 Simple 5030856 C . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;Hyperphenylalaninemia, non-pku;not provided 2016-10-27 12.9 2.3333333333333335 Pathogenic/Likely pathogenic 0 -628 Simple 62642937 A . Pathogenic/Likely pathogenic 2 6 Phenylketonuria;Hyperphenylalaninemia, non-pku;not provided 2017-07-12 32.4 0.8333333333333334 Pathogenic 1 -631 Simple 74486803 A . Pathogenic 2 4 Phenylketonuria;Hyperphenylalaninemia, non-pku;not provided 2017-02-06 22.8 1.5 Pathogenic 0 -636 Simple 75193786 G . Pathogenic/Likely pathogenic 2 5 Phenylketonuria;not provided 2017-06-30 26.4 0.6 Pathogenic 1 -642 Simple 6025 T . Pathogenic, risk factor 2 2 Factor V deficiency;Thrombophilia due to activated protein C resistance;Thrombophilia due to factor V Leiden;Ischemic stroke, susceptibility to;Budd-Chiari syndrome, susceptibility to;Recurrent abortion 2017-07-14 12.0 0.5 Pathogenic/Likely pathogenic 1 -700 Simple 118204437 A . Pathogenic 2 2 Mucopolysaccharidosis, MPS-IV-A;not provided 2017-04-13 10.2 2.0 Pathogenic/Likely pathogenic 1 -703 Simple 118204438 A . Pathogenic 2 2 Mucopolysaccharidosis, MPS-IV-A;Morquio syndrome 2016-06-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -722 Simple 1799930 A . drug response 3 0 Slow acetylator due to N-acetyltransferase enzyme variant;ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR, Metabolism/PK . . . . 0 -734 Simple 63750743 T . Pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 5;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-03-06 16.8 1.3333333333333333 Pathogenic 0 -744 Simple 118204052 T . Pathogenic/Likely pathogenic 2 2 Joubert syndrome 9;not provided 2016-10-13 7.8 2.0 Likely pathogenic 1 -747 Simple 386833750 T . Pathogenic 2 2 COACH syndrome;Joubert syndrome;Joubert syndrome 9/15, digenic;not provided 2017-12-05 11.4 1.0 Pathogenic/Likely pathogenic 1 -786 Simple 72552291 T . Pathogenic/Likely pathogenic 2 2 Brugada syndrome 2;not provided;Death in infancy;Cardiovascular phenotype 2017-08-17 9.0 0.0 Pathogenic/Likely pathogenic 0 -798 Simple 137854568 T . Pathogenic, other 2 5 Gardner syndrome;Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-04-22 28.8 1.2 Pathogenic 0 -801 Simple 121913327 T . Pathogenic/Likely pathogenic 2 2 Carcinoma of colon;Familial adenomatous polyposis 1;Colorectal Neoplasms 2016-03-22 10.8 2.0 Pathogenic/Likely pathogenic 0 -806 Simple 137854572 T . Pathogenic 2 2 Brain tumor-polyposis syndrome 2;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-05-24 11.4 1.0 Pathogenic/Likely pathogenic 1 -807 Simple 137854573 T . Pathogenic 2 6 Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-08-20 34.2 1.1666666666666667 Pathogenic 0 -808 Simple 137854574 T . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-07 18.0 0.0 Pathogenic 0 -810 Simple 137854575 A . Pathogenic 2 8 Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-08-01 43.8 1.5 Pathogenic 0 -811 Simple 387906234 - . Pathogenic 2 2 Gardner syndrome;Periampullary adenoma;Colorectal cancer, susceptibility to;not provided;Familial adenomatous polyposis 2017-01-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -812 Simple 387906235 - . Pathogenic 2 2 Periampullary adenoma;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-07-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -814 Simple 137854577 T . Pathogenic 2 3 Brain tumor-polyposis syndrome 2;Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-11-15 18.0 1.0 Pathogenic 0 -816 Simple 121913224 - . Pathogenic 2 10 Gardner syndrome;Adenomatous polyposis coli with congenital cholesteatoma;Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-08-27 55.2 1.6 Pathogenic 0 -824 Simple 137854580 T . Pathogenic 2 5 Gardner syndrome;Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-10-02 29.4 0.6 Pathogenic 0 -831 Simple 387906239 - . Conflicting interpretations of pathogenicity 1 2 Familial adenomatous polyposis 1;not specified;not provided 2016-09-14 5.73 1.5 Likely pathogenic 2 -835 Simple 397514031 A . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-04-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -945 Simple 72555392 T . Pathogenic 2 5 GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1-gangliosidosis, type I, with cardiac involvement;not provided 2016-09-29 20.4 4.2 Pathogenic 0 -955 Simple 121918166 T . Pathogenic/Likely pathogenic 2 6 Tyrosinase-positive oculocutaneous albinism;Skin/hair/eye pigmentation, variation in, 1;not provided;Oculocutaneous albinism 2017-05-18 33.0 1.5 Pathogenic 1 -956 Simple 121918167 A . Pathogenic/Likely pathogenic 2 2 Tyrosinase-positive oculocutaneous albinism;not provided 2017-01-25 7.8 2.0 Likely pathogenic 1 -961 Simple 121918170 C . Pathogenic 2 3 Tyrosinase-positive oculocutaneous albinism;not provided 2016-11-16 17.4 1.3333333333333333 Pathogenic 0 -962 Simple 1800401 A . Benign/Likely benign, Affects 2 2 Skin/hair/eye pigmentation, variation in, 1;not specified;Oculocutaneous albinism 2016-06-14 -7.8 2.0 Likely benign 1 -963 Simple 1800407 T . Benign/Likely benign, Affects 2 2 Skin/hair/eye pigmentation, variation in, 1;not specified;Oculocutaneous albinism 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -968 Simple 121918165 A . Pathogenic 2 2 Leber congenital amaurosis 5;Leber congenital amaurosis;Inborn genetic diseases 2016-06-14 10.2 2.5 Pathogenic/Likely pathogenic 1 -1031 Simple 267607038 C . Pathogenic 2 2 Schinzel-Giedion syndrome;not provided 2017-01-12 10.2 2.5 Pathogenic/Likely pathogenic 1 -1062 Simple 142433332 C . Pathogenic 2 5 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;not provided;Dysmetria;Gait ataxia;Gait imbalance;Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 2017-08-16 25.8 2.2 Pathogenic 0 -1069 Simple 121918198 G . Pathogenic 2 2 Joubert syndrome 7;not provided 2016-04-06 10.8 2.0 Pathogenic/Likely pathogenic 1 -1095 Simple 113994126 T . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease type III;Glycogen storage disease IIIb;GLYCOGEN STORAGE DISEASE, TYPE IIIb 2016-03-11 7.8 2.0 Likely pathogenic 1 -1096 Simple 113994129 A . Pathogenic 2 2 Glycogen storage disease type III;Glycogen storage disease IIIb;GLYCOGEN STORAGE DISEASE, TYPE IIIb;not provided 2017-06-26 10.8 1.5 Pathogenic/Likely pathogenic 1 -1098 Simple 113994134 - . Pathogenic 2 3 Glycogen storage disease type III;Glycogen storage disease IIIa 2017-05-16 16.2 1.6666666666666667 Pathogenic 0 -1099 Simple 369973784 G . Pathogenic/Likely pathogenic 2 3 Glycogen storage disease type III;Glycogen storage disease IIIa;Glycogen storage disease IIIb;GLYCOGEN STORAGE DISEASE, TYPE IIIb 2017-03-26 13.2 2.0 Pathogenic/Likely pathogenic 0 -1108 Simple 267606640 A . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease type III;Glycogen storage disease IIIa;not provided 2017-06-26 12.0 0.5 Pathogenic/Likely pathogenic 0 -1109 Simple 118203963 A . Pathogenic 2 2 Spastic paraplegia 11, autosomal recessive;not provided;Charcot-Marie-Tooth disease, axonal type 2X 2017-01-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -1112 Simple 312262720 - . Pathogenic/Likely pathogenic 2 3 Amyotrophic lateral sclerosis type 5;Spastic paraplegia 11, autosomal recessive;Hereditary spastic paraplegia;not provided 2018-01-01 18.0 0.0 Pathogenic 1 -1116 Simple 141848292 A . Pathogenic 2 2 Spastic paraplegia 11, autosomal recessive;not provided 2016-10-13 10.8 2.0 Pathogenic/Likely pathogenic 1 -1145 Simple 121918329 C . Pathogenic 2 2 Beta-hydroxyisobutyryl-CoA deacylase deficiency;not provided 2016-11-09 11.4 1.5 Pathogenic/Likely pathogenic 1 -1147 Simple 121918327 T . Pathogenic 2 2 Bardet-Biedl syndrome;Bardet-Biedl syndrome 12 2017-09-08 12.0 0.0 Pathogenic/Likely pathogenic 1 -1151 Simple 587777803 - . Pathogenic/Likely pathogenic 2 2 Bardet-Biedl syndrome 12;not provided 2017-03-31 9.0 0.5 Pathogenic/Likely pathogenic 0 -1167 Simple 1801020 G . Benign 2 3 FACTOR XII POLYMORPHISM;not specified;Reduced factor XII activity;Hereditary Angioedema 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -1169 Simple 118204456 T . Pathogenic 2 2 Hereditary angioneurotic edema with normal C1 esterase inhibitor activity;not provided;Hereditary angioneurotic edema 2017-03-31 11.4 1.0 Pathogenic/Likely pathogenic 1 -1198 Simple 118203957 T . Pathogenic 2 2 Nonsyndromic hearing loss and deafness;Deafness, neurosensory, autosomal recessive 49;not provided 2016-09-07 10.8 2.0 Pathogenic/Likely pathogenic 1 -1223 Simple 121918222 T . Pathogenic 2 2 Congenital dyserythropoietic anemia, type II;not provided 2016-10-10 11.4 1.5 Pathogenic/Likely pathogenic 1 -1232 Simple 121908282 T . Pathogenic/Likely pathogenic 2 2 Mucopolysaccharidosis, MPS-III-C;not provided;Retinal dystrophy 2017-09-26 6.0 0.0 Likely pathogenic 1 -1243 Simple 118203997 T . Pathogenic 2 4 Familial cancer of breast;Fanconi anemia, complementation group N;not provided;Hereditary cancer-predisposing syndrome 2017-03-13 23.4 1.0 Pathogenic 0 -1245 Simple 118203998 C . Pathogenic/Likely pathogenic, risk factor 2 8 Familial cancer of breast;Fanconi anemia, complementation group N;Pancreatic cancer 3;Breast cancer, susceptibility to;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-13 43.5 0.875 Pathogenic 1 -1253 Simple 72659351 A . Pathogenic 2 2 Osteogenesis imperfecta type 8;not provided 2016-09-22 12.0 1.0 Pathogenic/Likely pathogenic 1 -1260 Simple 78635798 A . Pathogenic/Likely pathogenic 2 2 Aicardi Goutieres syndrome 3;not provided 2016-08-15 5.7 1.5 Likely pathogenic 1 -1262 Simple 75184679 A . Pathogenic 2 5 Aicardi Goutieres syndrome 2;Aicardi Goutieres syndrome;not provided 2017-09-25 30.0 0.6 Pathogenic 0 -1264 Simple 80338851 A . Pathogenic 2 4 Peters plus syndrome;not provided 2016-06-14 21.0 2.25 Pathogenic 0 -1270 Simple 267606839 A . Uncertain significance, risk factor 2 2 Colorectal cancer 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.5 Uncertain significance 0 -1273 Simple 606231128 TGCCTGCC . Pathogenic 2 6 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;Congenital myasthenic syndrome;not provided 2017-08-11 33.6 1.1666666666666667 Pathogenic 0 -1284 Simple 139073416 A . Pathogenic 2 2 Hyperphosphatasia with mental retardation syndrome 1;not provided;Inborn genetic diseases 2016-08-25 10.2 2.5 Pathogenic/Likely pathogenic 1 -1290 Simple 11090865 T . Benign, risk factor 2 3 Liver failure acute infantile;Deafness, mitochondrial, modifier of;not specified 2017-08-23 -14.4 3.0 Benign/Likely benign 1 -1328 Simple 549625604 AA . Pathogenic 2 7 Bardet-Biedl syndrome;Bardet-Biedl syndrome 10;Retinitis pigmentosa;not provided;Bardet-biedl syndrome 6/10, digenic 2017-05-01 40.8 1.1428571428571428 Pathogenic 0 -1333 Simple 137852832 A . Pathogenic 2 7 Joubert syndrome;Leber congenital amaurosis 10;Meckel-Gruber syndrome;Meckel syndrome type 4;Senior-Loken syndrome 6;Joubert syndrome 5;Bardet-Biedl syndrome 14;Nephronophthisis;not provided 2017-07-28 36.6 1.8571428571428572 Pathogenic 0 -1337 Simple 281865192 C . Pathogenic 2 4 Joubert syndrome;Leber congenital amaurosis 10;Meckel-Gruber syndrome;Joubert syndrome 5;Nephronophthisis;not provided 2017-10-13 24.0 0.5 Pathogenic 0 -1339 Simple 137852834 A . Pathogenic 2 4 Leber congenital amaurosis 10;Joubert syndrome 5;not specified;Nystagmus;not provided;Blindness;Molar tooth sign on MRI;Central hypotonia 2017-05-15 21.6 1.5 Pathogenic 0 -1357 Simple 118203982 A . Pathogenic 2 2 Succinate-semialdehyde dehydrogenase deficiency;not provided 2016-03-22 10.8 2.0 Pathogenic/Likely pathogenic 1 -1376 Simple 137853108 T . Pathogenic 2 6 Joubert syndrome;Joubert syndrome 6;Meckel-Gruber syndrome;Meckel syndrome type 3;not provided;TMEM67-Related Disorders 2017-04-27 33.6 1.5 Pathogenic 0 -1383 Simple 201893408 C . Pathogenic/Likely pathogenic 2 5 Joubert syndrome;Joubert syndrome 6;Meckel-Gruber syndrome;Nephronophthisis 11;Nephronophthisis;Oligohydramnios;not provided;Renal cyst;Agenesis of cerebellar vermis;TMEM67-Related Disorders 2017-07-31 25.2 1.4 Pathogenic 1 -1387 Simple 202149403 C . Pathogenic 2 2 Joubert syndrome 6;Nephronophthisis;not provided 2016-02-10 10.2 2.5 Pathogenic/Likely pathogenic 1 -1421 Simple 398124292 AA . Pathogenic 2 9 Methylmalonic acidemia with homocystinuria;Disorders of Intracellular Cobalamin Metabolism;not specified;not provided 2017-06-02 50.4 1.5555555555555556 Pathogenic 0 -1423 Simple 121918241 T . Pathogenic 2 5 Methylmalonic acidemia with homocystinuria;not provided 2017-08-04 29.4 0.6 Pathogenic 0 -1424 Simple 121918242 T . Pathogenic 2 2 Methylmalonic acidemia with homocystinuria;not provided 2016-11-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -1425 Simple 121918243 A . Pathogenic 2 4 Methylmalonic acidemia with homocystinuria;not specified;not provided 2017-08-09 21.6 1.25 Pathogenic 0 -1511 Simple 113403872 T . Pathogenic 2 3 Pyruvate kinase deficiency of red cells;not provided 2016-06-14 16.2 2.0 Pathogenic 0 -1513 Simple 116100695 A . Pathogenic/Likely pathogenic 2 2 Pyruvate kinase deficiency of red cells 2016-01-27 5.4 2.0 Likely pathogenic 1 -1562 Simple 104894592 T . Pathogenic/Likely pathogenic 2 4 Mucopolysaccharidosis, MPS-III-B;Sanfilippo syndrome;not provided;Mucopolysaccharidosis Type III 2017-05-31 21.0 0.75 Pathogenic 1 -1622 Simple 113690956 A . Pathogenic/Likely pathogenic 2 4 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2017-03-10 18.6 2.0 Pathogenic 1 -1623 Simple 118204014 T . Pathogenic/Likely pathogenic 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not specified;not provided 2017-06-27 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -1624 Simple 387906249 - . Pathogenic/Likely pathogenic 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2017-04-18 12.6 2.3333333333333335 Pathogenic/Likely pathogenic 0 -1634 Simple 118204016 A . Pathogenic/Likely pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency 2017-04-23 8.4 1.5 Pathogenic/Likely pathogenic 0 -1640 Simple 72547571 T . Pathogenic 2 3 Sjögren-Larsson syndrome;not provided 2016-10-04 16.2 2.0 Pathogenic 0 -1669 Simple 118204009 T . Pathogenic/Likely pathogenic 2 2 Vitamin D-dependent rickets, type 1;not provided;Vitamin D-Dependent Rickets 2016-09-20 9.0 1.0 Pathogenic/Likely pathogenic 0 -1701 Simple 121917901 A . Pathogenic 2 4 DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome B;not provided;ERCC6-Related Disorders 2017-06-02 20.4 2.25 Pathogenic 0 -1731 Simple 199422217 A . Pathogenic 2 3 Autosomal recessive congenital ichthyosis 6;not provided;Congenital ichthyosiform erythroderma 2017-10-03 18.0 0.6666666666666666 Pathogenic 0 -1750 Simple 74853476 C . Pathogenic 2 4 Dopamine beta hydroxylase deficiency;not provided 2016-06-14 21.6 2.0 Pathogenic 0 -1753 Simple 28929483 T . Pathogenic 3 2 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -1755 Simple 63751108 T . Pathogenic 3 7 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 37.62 1.7142857142857142 Pathogenic 0 -1756 Simple 28929484 T . Pathogenic 3 2 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -1757 Simple 63749831 - . Pathogenic 3 8 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 45.42 1.25 Pathogenic 0 -1758 Simple 63750047 T . Pathogenic 3 4 Muir-Torré syndrome;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.02 1.5 Pathogenic 0 -1759 Simple 63751207 C . Likely pathogenic 3 6 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.41 1.6666666666666667 Pathogenic 2 -1760 Simple 63749811 - . Pathogenic 3 6 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 31.62 1.8333333333333333 Pathogenic 0 -1761 Simple 587776529 . . Pathogenic 3 1 Muir-Torré syndrome;Lynch syndrome 2013-09-05 . 4.0 . 0 -1762 Simple 4987188 A . Benign 3 10 Lynch syndrome I;MSH2 POLYMORPHISM;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -47.82 2.5 Benign 0 -1764 Simple 63750875 C . Pathogenic 3 10 Lynch syndrome I;Colorectal cancer, hereditary, nonpolyposis, type 1;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 52.02 2.1 Pathogenic 0 -1768 Simple 63751449 - . Pathogenic 3 1 Turcot syndrome;Lynch syndrome 2013-09-05 . 4.0 . 0 -1777 Simple 556794126 GGATGGAT . Pathogenic/Likely pathogenic 2 2 Congenital adrenal hyperplasia;Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency;not provided 2017-06-23 9.0 0.5 Pathogenic/Likely pathogenic 0 -1785 Simple 104894138 A . Pathogenic 2 2 Deficiency of steroid 17-alpha-monooxygenase;Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency;not provided 2016-09-26 11.4 1.5 Pathogenic/Likely pathogenic 1 -1830 Simple 121918244 A . Pathogenic 2 2 Senior-Loken syndrome 5;Nephronophthisis;Retinal dystrophy 2016-01-16 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -1841 Simple 80358231 A . Pathogenic 2 2 Glucocorticoid deficiency 2;ACTH resistance 2017-09-30 10.8 1.5 Pathogenic/Likely pathogenic 1 -1881 Simple 121918252 A . Pathogenic 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;METHYLMALONIC ACIDURIA, mut(-) TYPE;not provided 2017-05-24 11.4 1.0 Pathogenic/Likely pathogenic 1 -1887 Simple 121918257 A . Pathogenic 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;METHYLMALONIC ACIDURIA, mut(0) TYPE 2017-04-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -1895 Simple 80338684 TCC . Pathogenic 2 3 Biotinidase deficiency;not provided 2017-04-19 16.2 1.6666666666666667 Pathogenic 0 -1897 Simple 104893688 T . Pathogenic 2 4 Biotinidase deficiency;not provided 2016-09-15 22.2 1.75 Pathogenic 0 -1898 Simple 80338686 T . Pathogenic 2 2 Biotinidase deficiency 2016-06-10 10.2 2.5 Pathogenic/Likely pathogenic 1 -1900 Simple 13078881 C . Pathogenic/Likely pathogenic 2 9 Biotinidase deficiency;not specified;not provided 2017-07-18 46.8 1.3333333333333333 Pathogenic 1 -1901 Simple 28934601 G . Pathogenic 2 3 Biotinidase deficiency;not provided 2016-10-27 17.4 1.3333333333333333 Pathogenic 0 -1902 Simple 80338685 C . Pathogenic 2 5 Biotinidase deficiency;not provided 2017-10-09 28.2 1.0 Pathogenic 0 -1920 Simple 119103219 C . Pathogenic 2 2 3-methylcrotonyl CoA carboxylase 2 deficiency;not provided 2017-06-21 10.8 1.5 Pathogenic/Likely pathogenic 1 -1929 Simple 119103212 C . Pathogenic/Likely pathogenic 2 4 3 Methylcrotonyl-CoA carboxylase 1 deficiency;not provided 2017-08-31 15.6 1.75 Pathogenic 1 -1930 Simple 119103213 G . Pathogenic 2 3 3 Methylcrotonyl-CoA carboxylase 1 deficiency;not provided 2017-08-25 16.2 1.3333333333333333 Pathogenic 0 -1940 Simple 34637584 A . Pathogenic 2 4 Parkinson disease 8, autosomal dominant;not provided 2017-12-07 22.8 1.0 Pathogenic 0 -1965 Simple 121908739 G . Pathogenic 2 2 Severe combined immunodeficiency due to ADA deficiency;not provided 2017-07-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -1999 Simple 777759523 T . Pathogenic/Likely pathogenic 2 2 Hemophagocytic lymphohistiocytosis, familial, 3;Familial hemophagocytic lymphohistiocytosis;not provided 2017-03-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -2001 Simple 201908137 A . Pathogenic 2 2 Hemophagocytic lymphohistiocytosis, familial, 3;not provided 2017-06-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -2009 Simple 104894423 A . Pathogenic 2 4 Severe autosomal recessive muscular dystrophy of childhood - North African type;not provided 2017-06-27 21.6 1.75 Pathogenic 0 -2015 Simple 121434351 T . Pathogenic/Likely pathogenic 2 2 Joubert syndrome;Joubert syndrome 3 2016-12-05 7.8 2.0 Likely pathogenic 1 -2019 Simple 121434346 A . Pathogenic/Likely pathogenic 2 5 Neutral 1 amino acid transport defect;not provided 2017-07-24 24.9 1.6 Pathogenic 1 -2022 Simple 121434338 G . Pathogenic 2 2 CHARGE association;not provided 2017-08-24 10.2 2.0 Pathogenic/Likely pathogenic 1 -2082 Simple 121434367 T . Pathogenic 2 4 Glutaric aciduria, type 1;not provided;Glutaric acidemia 2016-09-16 21.0 2.25 Pathogenic 0 -2085 Simple 121434369 T . Pathogenic/Likely pathogenic 2 4 Glutaric aciduria, type 1;not provided;Glutaric acidemia 2016-09-16 20.4 1.25 Pathogenic 1 -2088 Simple 121434372 A . Pathogenic/Likely pathogenic 2 3 Glutaric aciduria, type 1;not provided 2017-10-05 14.1 1.6666666666666667 Pathogenic/Likely pathogenic 0 -2089 Simple 121434373 C . Pathogenic/Likely pathogenic 2 4 Glutaric aciduria, type 1;not provided;Glutaric acidemia 2016-09-20 18.0 2.5 Pathogenic 1 -2105 Simple 1800497 A . drug response 3 0 Dopamine receptor d2, reduced brain density of;antipsychotics response - Toxicity/ADR;bupropion response - Efficacy;clozapine response - Toxicity/ADR;ethanol response - Toxicity/ADR;olanzapine response - Toxicity/ADR;risperidone response - Toxicity/ADR . . . . 0 -2120 Simple 113994152 T . Pathogenic/Likely pathogenic 2 8 Pontocerebellar hypoplasia type 4;Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 5;not provided;Microcephaly;Global developmental delay;Cerebellar hypoplasia;Olivopontocerebellar hypoplasia 2017-11-01 39.0 2.0 Pathogenic 1 -2135 Simple 3743205 T . Benign, risk factor 2 1 Dyslexia 1;not specified 2016-03-29 . 1.0 . 0 -2136 Simple 57809907 A . Benign, risk factor 2 1 Dyslexia 1;not specified 2016-03-29 . 1.0 . 0 -2164 Simple 137854521 AA . Pathogenic 2 6 Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided;Myopathy 2017-08-07 35.4 0.6666666666666666 Pathogenic 0 -2165 Simple 137854523 T . Pathogenic/Likely pathogenic 2 5 Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided;ANO5-Related Disorders 2017-08-07 27.0 0.6 Pathogenic 1 -2166 Simple 137854529 T . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided 2016-06-17 16.8 1.6666666666666667 Pathogenic 0 -2212 Simple 61742245 A . drug response 3 0 Warfarin response;warfarin response - Dosage . . . . 0 -2216 Simple 5030821 A . Pathogenic 2 5 Von Hippel-Lindau syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 29.4 1.0 Pathogenic 0 -2217 Simple 5030818 T . Pathogenic/Likely pathogenic 2 5 Von Hippel-Lindau syndrome;Kidney cancer;not provided;Renal cell carcinoma;Hereditary cancer-predisposing syndrome 2017-08-30 25.8 1.8 Pathogenic 1 -2218 Simple 5030820 T . Pathogenic/Likely pathogenic 2 3 Pheochromocytoma;Von Hippel-Lindau syndrome;Kidney cancer;not provided;Renal cell carcinoma;Hereditary cancer-predisposing syndrome 2017-11-01 18.0 0.3333333333333333 Pathogenic 1 -2223 Simple 5030809 C . Pathogenic 2 3 Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 17.4 1.0 Pathogenic 0 -2226 Simple 104893826 C . Pathogenic/Likely pathogenic 2 2 Erythrocytosis, familial, 2;Pheochromocytoma;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2016-06-30 10.8 2.0 Pathogenic/Likely pathogenic 0 -2229 Simple 104893830 C . Pathogenic 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2016-08-16 9.0 3.5 Pathogenic/Likely pathogenic 1 -2268 Simple 28940291 A . Pathogenic 2 3 Charcot-Marie-Tooth disease, type 2A2A;Charcot-Marie-Tooth disease, type 2;not provided 2017-07-13 17.4 1.0 Pathogenic 0 -2269 Simple 28940292 C . Pathogenic 2 5 Charcot-Marie-Tooth disease, type 2A2A;Charcot-Marie-Tooth disease, type 2;not provided 2017-10-16 29.4 0.4 Pathogenic 0 -2270 Simple 28940293 C . Pathogenic 2 2 Charcot-Marie-Tooth disease, type 2A2A;not provided 2017-09-05 10.8 1.5 Pathogenic/Likely pathogenic 1 -2271 Simple 28940294 A . Pathogenic 2 3 Charcot-Marie-Tooth disease, type 2A2A;Charcot-Marie-Tooth disease, type 2;not provided 2017-04-07 15.6 1.6666666666666667 Pathogenic 0 -2276 Simple 119103263 T . Pathogenic 2 5 Charcot-Marie-Tooth disease, type 2A2A;Hereditary motor and sensory neuropathy with optic atrophy;Charcot-Marie-Tooth disease, type 2;Short stature;Failure to thrive;not provided;Abnormality of the teeth;Microcephaly;Abnormality of dental enamel;Hyperpigmentation of the skin;Alopecia of scalp;Distal muscle weakness;EMG abnormality;Decreased body weight;Scarring alopecia of scalp;Abnormal blistering of the skin;Nail dystrophy;Scarring 2017-03-21 27.6 1.6 Pathogenic 0 -2278 Simple 119103265 T . Pathogenic 2 3 Charcot-Marie-Tooth disease, type 2A2A;Hereditary motor and sensory neuropathy with optic atrophy;Charcot-Marie-Tooth disease, type 2;not provided 2017-08-04 16.8 1.3333333333333333 Pathogenic 0 -2280 Simple 119103267 T . Pathogenic/Likely pathogenic 2 2 Charcot-Marie-Tooth disease, type 2A2A;Charcot-Marie-Tooth disease, type 2;not provided;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2017-08-15 6.0 0.0 Likely pathogenic 1 -2281 Simple 119103268 T . Pathogenic 2 4 Charcot-Marie-Tooth disease, type 2A2A;Hereditary motor and sensory neuropathy with optic atrophy;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease;not provided;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2017-05-18 22.2 1.0 Pathogenic 0 -2298 Simple 116987552 A . Pathogenic 2 7 Glycogen storage disease, type V;not provided 2017-09-21 40.2 1.1428571428571428 Pathogenic 0 -2299 Simple 119103251 T . Pathogenic 2 2 Glycogen storage disease, type V;not provided 2016-09-21 11.4 1.5 Pathogenic/Likely pathogenic 1 -2307 Simple 119103255 A . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type V;not provided 2017-11-17 8.4 1.5 Pathogenic/Likely pathogenic 0 -2312 Simple 119103258 G . Pathogenic 2 3 Glycogen storage disease, type V;not provided 2016-09-26 15.0 2.6666666666666665 Pathogenic 0 -2351 Simple 80338903 - . Pathogenic 2 6 Usher syndrome, type 2A;Retinitis pigmentosa;Retinitis pigmentosa 39;not provided;Retinal dystrophy;Usher syndrome 2017-11-06 33.6 1.5 Pathogenic 0 -2353 Simple 111033367 - . Pathogenic 2 2 Usher syndrome, type 2A;USH2A-Related Disorders 2016-06-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -2357 Simple 111033364 T . Pathogenic 2 6 Usher syndrome, type 2A;Retinitis pigmentosa;Retinitis pigmentosa 39;Hearing impairment;not provided;Congenital sensorineural hearing impairment 2016-10-27 34.2 1.5 Pathogenic 0 -2358 Simple 111033272 T . Pathogenic 2 4 Usher syndrome, type 2A;Retinitis pigmentosa 39;not provided 2016-04-01 21.0 2.25 Pathogenic 0 -2359 Simple 121912600 A . Pathogenic/Likely pathogenic 2 4 Usher syndrome, type 2A;not provided;Usher syndrome 2017-05-26 20.4 2.5 Pathogenic 1 -2361 Simple 111033334 A . Pathogenic 2 3 Usher syndrome, type 2A;Retinitis pigmentosa 39 2015-10-01 13.8 4.0 Pathogenic/Likely pathogenic 1 -2365 Simple 74315323 A . Pathogenic 2 2 Hemochromatosis type 2A;Hemochromatosis type 1 2017-01-20 10.8 2.0 Pathogenic/Likely pathogenic 1 -2377 Simple 137852871 A . Pathogenic 2 2 Maple syrup urine disease;MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA 2013-08-25 7.800000000000001 4.5 Likely pathogenic 2 -2397 Simple 104893944 T . Pathogenic 2 2 Arginase deficiency;not provided 2017-04-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -2399 Simple 28941472 G . Pathogenic 2 2 Argininosuccinate lyase deficiency;not provided 2017-01-12 9.6 3.0 Pathogenic/Likely pathogenic 1 -2401 Simple 28940286 T . Pathogenic/Likely pathogenic 2 2 Argininosuccinate lyase deficiency 2016-07-15 6.0 1.0 Likely pathogenic 1 -2402 Simple 28941473 A . Pathogenic 2 2 Argininosuccinate lyase deficiency 2017-08-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -2449 Simple 28940583 T . Pathogenic/Likely pathogenic 2 2 Sialidosis, type II;Sialidosis type I;not provided 2017-01-28 8.7 1.5 Pathogenic/Likely pathogenic 0 -2462 Simple 119450941 A . Pathogenic 2 7 Adenylosuccinate lyase deficiency;not provided 2017-09-12 37.8 1.7142857142857142 Pathogenic 0 -2482 Simple 80338933 A . Pathogenic 2 8 Charcot-Marie-Tooth disease, type 4C;Mononeuropathy of the median nerve, mild;Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth disease;not provided;SH3TC2-Related Disorders 2017-07-27 45.0 1.25 Pathogenic 0 -2483 Simple 80338934 A . Pathogenic 2 2 Charcot-Marie-Tooth disease, type 4C;not provided 2016-05-24 9.6 3.0 Pathogenic/Likely pathogenic 1 -2523 Simple 104894490 A . Pathogenic 2 2 Spastic paraplegia 6;Hereditary spastic paraplegia 2017-04-27 12.0 0.0 Pathogenic/Likely pathogenic 1 -2538 Simple 61752717 C . Pathogenic 2 7 Familial Mediterranean fever;not specified;not provided 2017-07-19 37.2 1.7142857142857142 Pathogenic 0 -2539 Simple 28940578 T . Pathogenic 2 5 Familial Mediterranean fever;not specified;not provided 2017-06-06 26.4 2.0 Pathogenic 0 -2540 Simple 28940579 G . Pathogenic 2 8 Familial Mediterranean fever;Familial mediterranean fever, autosomal dominant;not specified;not provided 2017-10-12 43.2 1.625 Pathogenic 0 -2549 Simple 104895097 T . Pathogenic/Likely pathogenic 2 5 Familial Mediterranean fever;not provided 2017-09-08 27.0 0.6 Pathogenic 1 -2550 Simple 28940580 T . Pathogenic 2 2 Familial Mediterranean fever;not specified;not provided 2017-07-13 12.0 0.0 Pathogenic/Likely pathogenic 1 -2553 Simple 104895085 T . Pathogenic 2 2 Familial Mediterranean fever;not provided 2016-12-15 10.8 2.0 Pathogenic/Likely pathogenic 1 -2587 Simple 28940576 C . Pathogenic 2 2 Lafora disease;Epilepsy, progressive myoclonic 2b;not provided 2017-04-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -2588 Simple 587776542 - . Pathogenic 2 2 Lafora disease;Epilepsy, progressive myoclonic 2b;not provided 2016-06-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -2594 Simple 119458970 A . Pathogenic/Likely pathogenic 2 3 Glutaric aciduria, type 2;Glutaric acidemia IIA;not provided 2017-11-06 15.0 0.6666666666666666 Pathogenic 1 -2605 Simple 28940279 C . Pathogenic 2 5 Spongy degeneration of central nervous system;not provided 2017-10-23 27.6 1.6 Pathogenic 0 -2607 Simple 28940574 A . Pathogenic 2 4 Spongy degeneration of central nervous system;not provided 2017-04-07 22.2 1.5 Pathogenic 0 -2609 Simple 12948217 A . Pathogenic 2 4 Spongy degeneration of central nervous system 2017-05-24 21.6 1.75 Pathogenic 0 -2616 Simple 104894553 A . Pathogenic/Likely pathogenic 2 2 Spongy degeneration of central nervous system;Canavan disease, mild 2016-06-14 5.7 1.5 Likely pathogenic 1 -2642 Simple 119455954 T . Pathogenic/Likely pathogenic 2 3 Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis;not provided 2017-05-23 11.1 1.6666666666666667 Pathogenic/Likely pathogenic 0 -2643 Simple 119455955 A . Pathogenic 2 7 Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis;not provided;Inborn genetic diseases 2017-08-10 41.4 0.7142857142857143 Pathogenic 0 -2644 Simple 56144125 G . Pathogenic 2 13 Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis;Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia;not provided;Inborn genetic diseases 2017-11-08 72.0 1.3846153846153846 Pathogenic 0 -2647 Simple 119455957 A . Pathogenic 2 2 Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis 2017-06-29 11.4 1.0 Pathogenic/Likely pathogenic 1 -2656 Simple 201938124 A . Pathogenic 2 2 Bardet-Biedl syndrome 9;not provided 2016-10-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -2669 Simple 137852849 A . Pathogenic/Likely pathogenic 2 4 Multiple sulfatase deficiency;not provided 2016-10-18 16.2 1.75 Pathogenic 1 -2672 Simple 137852850 G . Pathogenic/Likely pathogenic 2 2 Multiple sulfatase deficiency;not provided 2016-10-18 7.2 2.5 Likely pathogenic 1 -2771 Simple 34002892 - . Pathogenic 2 5 I cell disease;Pseudo-Hurler polydystrophy;not provided;GNPTAB-Related Disorders 2017-11-03 27.0 1.8 Pathogenic 0 -2777 Simple 80338671 G . Pathogenic 2 3 Glycogen storage disease, type IV;Glycogen storage disease IV, classic hepatic;Glycogen storage disease IV, nonprogressive hepatic;not provided;Adult polyglucosan body neuropathy;GBE1-Related Disorders 2017-06-29 17.4 1.0 Pathogenic 0 -2840 Simple 120074144 T . Pathogenic 2 2 Deficiency of acetyl-CoA acetyltransferase;not provided 2016-11-15 10.2 2.5 Pathogenic/Likely pathogenic 1 -2873 Simple 28942111 A . Pathogenic/Likely pathogenic 2 2 Hypercholesterolemia, autosomal dominant, 3;Familial hypercholesterolemia 2016-12-16 8.7 1.5 Pathogenic/Likely pathogenic 0 -2891 Simple 5911 C . Benign, association 2 2 Glanzmann thrombasthenia;BAK PLATELET-SPECIFIC ANTIGEN;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -2966 Simple 80358257 C . Pathogenic 2 7 Niemann-Pick disease type C1;Cerebellar ataxia;Niemann-Pick disease, type C;Headache;not provided;Speech apraxia;Ataxia;Postural instability;Cataplexy;Cognitive impairment 2017-06-16 38.4 1.5714285714285714 Pathogenic 0 -2967 Simple 80358259 G . Pathogenic 2 6 Niemann-Pick disease type C1;not provided 2017-05-18 34.8 1.0 Pathogenic 0 -2969 Simple 80358254 G . Pathogenic/Likely pathogenic 2 3 Niemann-Pick disease type C1;not provided 2017-04-13 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -2971 Simple 120074135 T . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease type C1;not provided 2016-08-01 8.4 2.0 Pathogenic/Likely pathogenic 0 -2972 Simple 28942107 A . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease type C1 2016-09-28 6.6 3.0 Likely pathogenic 1 -2976 Simple 28942108 A . Pathogenic/Likely pathogenic 2 3 Niemann-Pick disease type C1;not provided 2016-06-13 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -2980 Simple 120074117 T . Pathogenic 2 5 Niemann-Pick disease, type B;Niemann-Pick disease, type A;Sphingomyelin/cholesterol lipidosis;not provided 2017-06-23 28.8 1.2 Pathogenic 0 -2989 Simple 120074124 C . Pathogenic 2 2 Niemann-Pick disease, type B;Niemann-Pick disease, type A;Sphingomyelin/cholesterol lipidosis 2015-09-10 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -2990 Simple 387906289 - . Pathogenic 2 2 Niemann-Pick disease, type A;Sphingomyelin/cholesterol lipidosis 2015-09-10 10.2 2.5 Pathogenic/Likely pathogenic 1 -2993 Simple 120074127 T . Pathogenic 2 3 Niemann-Pick disease, type B;Niemann-Pick disease, type A;not provided 2016-05-24 16.8 1.6666666666666667 Pathogenic 0 -3021 Simple 774925473 G . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Ataxia-telangiectasia variant;Hereditary cancer-predisposing syndrome 2017-06-02 17.4 1.0 Pathogenic 0 -3023 Simple 28904921 G . Pathogenic/Likely pathogenic, risk factor 2 9 Familial cancer of breast;Ataxia-telangiectasia syndrome;Ataxia-telangiectasia variant;Breast cancer, susceptibility to;T-cell prolymphocytic leukemia;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-21 48.0 1.1111111111111112 Pathogenic 1 -3025 Simple 55861249 T . Pathogenic/Likely pathogenic 2 7 Familial cancer of breast;Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-29 37.5 1.0 Pathogenic 1 -3029 Simple 121434219 T . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;Ataxia-telangiectasia without immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-10-10 21.0 0.0 Pathogenic 1 -3030 Simple 267606668 GC . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-17 15.0 1.0 Pathogenic 1 -3033 Simple 587776549 TGAT . Pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-19 30.0 0.6 Pathogenic 0 -3035 Simple 587776551 A . Pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 30.0 0.6 Pathogenic 0 -3036 Simple 121434220 T . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 26.4 1.0 Pathogenic 1 -3047 Simple 796051858 A . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;Ataxia-telangiectasia variant;not provided;Hereditary cancer-predisposing syndrome 2017-07-06 12.0 0.25 Pathogenic/Likely pathogenic 0 -3048 Simple 1800054 G . Benign/Likely benign, risk factor 2 10 Ataxia-telangiectasia syndrome;Breast cancer, susceptibility to;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-16 -42.3 1.8 Benign 1 -3050 Simple 2071421 C . Benign/Likely benign, other 2 2 Metachromatic leukodystrophy;ARYLSULFATASE A POLYMORPHISM;not specified;not provided 2016-10-11 -9.0 1.0 Benign/Likely benign 0 -3051 Simple 80338815 T . Pathogenic 2 5 Metachromatic leukodystrophy;Metachromatic leukodystrophy, juvenile type;Metachromatic leukodystrophy, adult type;not provided 2017-07-13 28.8 0.8 Pathogenic 0 -3052 Simple 28940893 A . Pathogenic 2 5 Metachromatic leukodystrophy;Metachromatic leukodystrophy, juvenile type;Metachromatic leukodystrophy, adult type;Arylsulfatase a, allele a;not provided 2017-09-29 28.200000000000003 1.2 Pathogenic 0 -3057 Simple 74315457 C . Pathogenic/Likely pathogenic 2 3 Metachromatic leukodystrophy;Metachromatic leukodystrophy, juvenile type;Metachromatic leukodystrophy, adult type 2017-06-29 13.5 1.6666666666666667 Pathogenic/Likely pathogenic 0 -3058 Simple 80338820 T . Pathogenic 2 3 Metachromatic leukodystrophy;Metachromatic leukodystrophy, juvenile type 2017-01-24 16.2 2.0 Pathogenic 0 -3070 Simple 74315467 A . Pathogenic 2 2 Metachromatic leukodystrophy 2016-08-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -3074 Simple 74315471 T . Pathogenic 2 2 Metachromatic leukodystrophy;Metachromatic leukodystrophy, severe 2017-09-08 10.8 1.5 Pathogenic/Likely pathogenic 1 -3075 Simple 74315472 A . Pathogenic/Likely pathogenic 2 2 Metachromatic leukodystrophy;Metachromatic leukodystrophy, severe 2017-01-24 8.4 2.0 Pathogenic/Likely pathogenic 0 -3080 Simple 74315475 A . Pathogenic/Likely pathogenic 2 4 Metachromatic leukodystrophy;Metachromatic leukodystrophy, severe;Leukodystrophy;not provided 2016-04-15 19.2 2.0 Pathogenic 1 -3081 Simple 74315476 A . Pathogenic/Likely pathogenic 2 2 Metachromatic leukodystrophy;Metachromatic leukodystrophy, severe 2016-04-12 7.2 2.5 Likely pathogenic 1 -3091 Simple 74315483 T . Pathogenic/Likely pathogenic 2 2 Metachromatic leukodystrophy;Metachromatic leukodystrophy, late infantile;not provided 2016-09-09 8.4 2.0 Pathogenic/Likely pathogenic 0 -3095 Simple 28941784 A . Pathogenic 2 3 Methylmalonic aciduria cblB type;Methylmalonic acidemia;not provided 2016-11-03 17.4 1.3333333333333333 Pathogenic 0 -3098 Simple 104893950 A . Pathogenic 2 2 Lafora disease;not provided 2017-06-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -3117 Simple 120074178 A . Pathogenic 2 3 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-08-08 15.6 1.6666666666666667 Pathogenic 0 -3118 Simple 120074179 A . Pathogenic/Likely pathogenic 2 2 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-29 12.0 0.0 Pathogenic/Likely pathogenic 0 -3120 Simple 12720459 A . Pathogenic 2 2 Long QT syndrome 1;Long QT syndrome 1/2, digenic;Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-05 11.4 1.0 Pathogenic/Likely pathogenic 1 -3121 Simple 12720459 T . Pathogenic 2 2 Long QT syndrome 1;Long QT syndrome;not provided 2017-09-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -3126 Simple 120074185 T . Pathogenic 2 2 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-01-09 12.0 1.0 Pathogenic/Likely pathogenic 1 -3135 Simple 1800171 A . Pathogenic 2 3 Long QT syndrome 1;Long QT syndrome 2;Long QT syndrome;not provided 2017-09-01 18.0 0.3333333333333333 Pathogenic 0 -3138 Simple 120074189 T . Pathogenic 2 2 Jervell and Lange-Nielsen syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -3144 Simple 120074193 A . Pathogenic 2 2 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-08-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -3145 Simple 120074194 A . Pathogenic 2 2 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-06-09 12.0 0.0 Pathogenic/Likely pathogenic 1 -3160 Simple 104893851 T . Pathogenic 2 3 Methylmalonic aciduria cblA type;not provided 2017-06-21 18.0 0.6666666666666666 Pathogenic 0 -3165 Simple 28942100 A . Pathogenic 2 2 Alkaptonuria 2016-06-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -3173 Simple 120074173 C . Pathogenic 2 2 Alkaptonuria 2015-12-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -3195 Simple 113993991 AG . Pathogenic 2 3 Shwachman syndrome;not provided 2017-10-23 17.4 1.0 Pathogenic 0 -3196 Simple 113993993 G . Pathogenic, risk factor 2 3 Shwachman syndrome;Aplastic anemia, susceptibility to;not specified;not provided 2017-05-18 18.0 0.6666666666666666 Pathogenic 0 -3203 Simple 398123555 AA . Pathogenic 2 3 Fukuyama congenital muscular dystrophy;Limb-girdle muscular dystrophy-dystroglycanopathy, type C4;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4;not provided 2017-08-29 15.6 2.0 Pathogenic 0 -3216 Simple 267606814 T . Pathogenic/Likely pathogenic 2 2 Fukuyama congenital muscular dystrophy;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4;not provided 2017-06-13 8.4 1.5 Pathogenic/Likely pathogenic 0 -3221 Simple 200198778 C . Pathogenic/Likely pathogenic 2 5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not provided;Muscular dystrophy 2017-05-18 24.900000000000002 1.6 Pathogenic 1 -3250 Simple 119462987 A . Pathogenic 2 4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not provided 2016-12-08 22.200000000000003 1.75 Pathogenic 0 -3255 Simple 398124245 GG . Pathogenic 2 4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not provided;Walker-Warburg congenital muscular dystrophy 2017-08-02 22.8 1.0 Pathogenic 0 -3292 Simple 74315499 T . Pathogenic 2 2 Neurofibromatosis, type 2;not provided 2017-06-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -3307 Simple 121434254 T . Pathogenic 2 3 Polyglandular autoimmune syndrome, type 1;not provided 2017-02-06 16.8 1.6666666666666667 Pathogenic 0 -3309 Simple 386833675 - . Pathogenic/Likely pathogenic 2 4 Polyglandular autoimmune syndrome, type 1;Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia;not provided 2017-08-14 22.2 1.5 Pathogenic 1 -3310 Simple 121434256 T . Pathogenic 2 3 Polyglandular autoimmune syndrome, type 1;not provided 2016-11-30 15.6 2.3333333333333335 Pathogenic 0 -3344 Simple 121434249 T . Pathogenic/Likely pathogenic 2 3 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-09-08 15.0 0.3333333333333333 Pathogenic 1 -3351 Simple 9332964 T . Pathogenic/Likely pathogenic 2 3 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;not provided;Micropenis 2017-06-20 15.0 0.3333333333333333 Pathogenic 1 -3363 Simple 80338682 GG . Pathogenic 2 5 Multiple fibrofolliculomas;Pneumothorax, primary spontaneous;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-20 30.0 0.6 Pathogenic 0 -3364 Simple 80338683 - . Pathogenic 2 6 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-08-01 33.0 1.5 Pathogenic 0 -3367 Simple 137852929 C . Pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-09-21 24.0 0.25 Pathogenic 0 -3371 Simple 750146811 - . Pathogenic 2 3 Multiple fibrofolliculomas;Pneumothorax, primary spontaneous;not provided;Hereditary cancer-predisposing syndrome 2017-06-05 17.4 1.0 Pathogenic 0 -3383 Simple 137852924 A . Pathogenic 2 2 Chondroectodermal dysplasia;Short rib-polydactyly syndrome, Majewski type;not provided;Ellis-van Creveld Syndrome 2018-01-08 12.0 0.0 Pathogenic/Likely pathogenic 1 -3417 Simple 28942094 A . Pathogenic/Likely pathogenic 2 2 Van der Woude syndrome;not provided;Cleft palate 2016-07-13 8.4 1.5 Pathogenic/Likely pathogenic 0 -3440 Simple 397507552 - . Pathogenic 2 3 Fanconi anemia;Fanconi anemia, complementation group A 2016-11-29 17.4 1.3333333333333333 Pathogenic 0 -3455 Simple 199422125 AA . Pathogenic/Likely pathogenic 2 1 Primary autosomal recessive microcephaly 1;Abnormality of brain morphology 2016-10-27 . 1.0 . 0 -3466 Simple 121907916 A . Pathogenic 2 3 Aniridia 1;Irido-corneo-trabecular dysgenesis 2018-02-07 16.2 1.3333333333333333 Pathogenic 0 -3467 Simple 121907917 A . Pathogenic 2 2 Aniridia 1;Irido-corneo-trabecular dysgenesis;not provided 2017-06-20 12.0 0.0 Pathogenic/Likely pathogenic 1 -3474 Simple 121907922 A . Pathogenic 2 2 Aniridia 1;not provided 2016-01-05 10.2 2.5 Pathogenic/Likely pathogenic 1 -3487 Simple 121907900 A . Pathogenic 2 3 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;not provided 2017-07-06 18.0 0.6666666666666666 Pathogenic 0 -3494 Simple 121907909 A . Pathogenic 2 2 Drash syndrome;Frasier syndrome;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not provided;WAGR syndrome 2017-07-03 12.0 0.0 Pathogenic/Likely pathogenic 1 -3510 Simple 121907899 T . Pathogenic 2 3 Nephronophthisis 1;Nephronophthisis;not provided 2017-07-11 17.4 0.6666666666666666 Pathogenic 0 -3512 Simple 121907892 A . Pathogenic 2 2 Familial renal hypouricemia 2016-06-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -3520 Simple 1801133 A . drug response 3 2 Gastrointestinal stromal tumor;Neural tube defects, folate-sensitive;MTHFR deficiency, thermolabile type;Neoplasm of stomach;not specified;not provided;carboplatin response - Efficacy;cyclophosphamide response - Toxicity/ADR;methotrexate response - Dosage, Efficacy, Toxicity/ADR . -9.0 1.0 . 0 -3521 Simple 1801131 G . drug response 3 3 Gastrointestinal stromal tumor;Neural tube defects, folate-sensitive;MTHFR deficiency, thermolabile type;Schizophrenia, susceptibility to;not specified;not provided;fluorouracil, leucovorin, and oxaliplatin response - Efficacy . -15.0 1.0 . 0 -3586 Simple 77931234 G . Pathogenic 2 10 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2017-10-04 53.4 1.9 Pathogenic 0 -3587 Simple 786204522 TAGAATGAGTTACTAGAATGAGTTAC . Pathogenic/Likely pathogenic 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2017-03-24 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -3588 Simple 121434274 A . Pathogenic/Likely pathogenic 2 6 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2017-06-29 29.7 1.8333333333333333 Pathogenic 1 -3592 Simple 387906297 - . Pathogenic 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2016-05-12 14.4 3.0 Pathogenic/Likely pathogenic 1 -3594 Simple 121434278 A . Pathogenic/Likely pathogenic 2 5 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2017-07-14 23.4 2.0 Pathogenic 1 -3597 Simple 121434280 C . Pathogenic 2 6 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2017-04-24 33.0 1.5 Pathogenic 0 -3598 Simple 121434281 T . Pathogenic/Likely pathogenic 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2016-11-15 13.2 2.0 Pathogenic/Likely pathogenic 0 -3599 Simple 121434283 T . Pathogenic 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2017-07-24 16.8 1.0 Pathogenic 0 -3603 Simple 554675432 - . Pathogenic 2 3 Kallmann syndrome 4;not provided 2016-11-28 18.0 1.0 Pathogenic 0 -3609 Simple 111033695 A . Pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided 2015-03-10 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -3610 Simple 111033800 T . Pathogenic/Likely pathogenic 2 5 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-05-18 23.4 2.0 Pathogenic 1 -3614 Simple 75391579 G . Pathogenic 2 9 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified;not provided 2017-10-20 47.4 1.8888888888888888 Pathogenic 0 -3616 Simple 111033715 C . Pathogenic/Likely pathogenic 2 3 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-06-29 14.4 1.0 Pathogenic/Likely pathogenic 0 -3618 Simple 111033690 T . Pathogenic 2 7 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified;not provided 2017-05-18 37.8 1.7142857142857142 Pathogenic 0 -3621 Simple 111033773 T . Pathogenic 2 5 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified;not provided 2017-02-14 25.200000000000003 2.6 Pathogenic 0 -3629 Simple 536522394 - . Pathogenic/Likely pathogenic 2 2 Myeloperoxidase deficiency;not provided 2017-01-31 8.4 1.5 Pathogenic/Likely pathogenic 0 -3632 Simple 35897051 G . Pathogenic 2 2 Myeloperoxidase deficiency;not provided 2017-08-04 10.8 1.5 Pathogenic/Likely pathogenic 1 -3644 Simple 387906299 - . Pathogenic 2 2 Coenzyme Q10 deficiency, primary, 4;not provided 2016-08-31 11.4 1.5 Pathogenic/Likely pathogenic 1 -3683 Simple 121908024 T . Pathogenic 2 6 Familial hypercholesterolemia 2017-06-04 34.8 1.0 Pathogenic 0 -3685 Simple 121908025 G . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia 2017-03-30 26.4 1.0 Pathogenic 1 -3686 Simple 121908026 T . Pathogenic/Likely pathogenic 2 9 Familial hypercholesterolemia;not provided 2017-10-19 43.2 1.0 Pathogenic 1 -3688 Simple 28942082 T . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -3689 Simple 28942083 A . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia;not provided 2017-09-21 20.7 0.8 Pathogenic 1 -3690 Simple 121908028 G . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -3691 Simple 121908029 A . Pathogenic/Likely pathogenic 2 8 Familial hypercholesterolemia 2017-03-30 40.2 1.125 Pathogenic 1 -3692 Simple 121908030 A . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia;Hypercholesterolaemia 2017-03-30 20.7 1.0 Pathogenic 1 -3694 Simple 28942078 A . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia 2017-06-03 31.8 1.0 Pathogenic 1 -3695 Simple 28942079 A . Pathogenic/Likely pathogenic 2 8 Familial hypercholesterolemia 2017-03-30 33.9 1.375 Pathogenic 1 -3696 Simple 28942080 A . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia;not provided 2017-03-30 20.4 1.1666666666666667 Pathogenic 1 -3697 Simple 28942081 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 1 -3698 Simple 28941776 A . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia;not provided 2017-06-29 26.4 1.0 Pathogenic 1 -3699 Simple 121908031 A . Pathogenic/Likely pathogenic 2 9 Familial hypercholesterolemia;not provided 2017-03-30 52.2 1.2222222222222223 Pathogenic 1 -3701 Simple . . . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;FH LEIDEN 1 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -3702 Simple 28942084 T . Pathogenic/Likely pathogenic 2 9 Familial hypercholesterolemia;not provided 2017-06-19 42.6 1.2222222222222223 Pathogenic 1 -3703 Simple 121908032 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -3704 Simple 28942085 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -3705 Simple 387906302 AGAAAGAA . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -3706 Simple 387906303 A . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 22.8 1.2 Pathogenic 1 -3724 Simple . . . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -3726 Simple 121908033 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -3727 Simple 121908034 G . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-07-31 23.4 1.0 Pathogenic 1 -3729 Simple 387906304 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -3730 Simple 121908035 A . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 29.4 1.0 Pathogenic 1 -3731 Simple 387906305 - . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia;not provided 2017-06-07 18.0 0.6666666666666666 Pathogenic 1 -3732 Simple 121908036 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -3733 Simple 387906306 . . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 9.0 1.0 Pathogenic/Likely pathogenic 0 -3738 Simple 200238879 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -3739 Simple 121908039 A . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia 2017-06-08 28.8 1.0 Pathogenic 1 -3740 Simple 121908040 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;Hypercholesterolaemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -3741 Simple 267607213 A . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia 2017-04-12 35.4 0.8333333333333334 Pathogenic 1 -3742 Simple 121908041 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -3744 Simple 145787161 A . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-01-19 25.8 1.4 Pathogenic 1 -3745 Simple 387906307 - . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -3746 Simple 121908043 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -3747 Simple 121908044 T . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 17.7 1.0 Pathogenic 1 -3750 Simple 121908012 G . Pathogenic 2 2 Congenital erythropoietic porphyria 2016-08-31 12.0 1.0 Pathogenic/Likely pathogenic 1 -3771 Simple 281865527 CC . Pathogenic 2 2 Tyrosinase-negative oculocutaneous albinism;not provided 2017-10-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -3772 Simple 28940876 T . Pathogenic/Likely pathogenic 2 3 Tyrosinase-negative oculocutaneous albinism;Oculocutaneous albinism type 1B;not provided;Albinism 2016-11-02 16.8 1.6666666666666667 Pathogenic 1 -3773 Simple 104894314 T . Pathogenic 2 4 Tyrosinase-negative oculocutaneous albinism;Oculocutaneous albinism type 1B;not provided 2016-08-29 21.6 2.0 Pathogenic 0 -3774 Simple 61754388 A . Pathogenic 2 7 Tyrosinase-negative oculocutaneous albinism;Oculocutaneous albinism type 1B;Albinism, ocular, with sensorineural deafness;Skin/hair/eye pigmentation, variation in, 3;not provided;Oculocutaneous albinism 2017-08-30 37.8 1.7142857142857142 Pathogenic 0 -3777 Simple 104894313 T . Pathogenic/Likely pathogenic 2 2 Tyrosinase-negative oculocutaneous albinism;Oculocutaneous albinism type 1B;not provided;Oculocutaneous albinism 2017-05-24 9.0 0.5 Pathogenic/Likely pathogenic 0 -3778 Simple 1042602 A . Benign/Likely benign, association 2 2 Tyrosinase-negative oculocutaneous albinism;Skin/hair/eye pigmentation, variation in, 3;not specified;not provided;Oculocutaneous albinism 2017-10-30 -7.8 2.0 Likely benign 1 -3787 Simple 61754368 - . Pathogenic 2 2 Tyrosinase-negative oculocutaneous albinism;not provided 2017-07-17 11.4 1.0 Pathogenic/Likely pathogenic 1 -3794 Simple 61753180 A . Pathogenic 2 2 Tyrosinase-negative oculocutaneous albinism;Oculocutaneous albinism type 1B;not provided 2017-01-26 12.0 1.0 Pathogenic/Likely pathogenic 1 -3796 Simple 61754375 A . Pathogenic 2 2 Tyrosinase-negative oculocutaneous albinism;not provided 2017-01-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -3803 Simple 61754399 TT . Pathogenic 2 3 Tyrosinase-negative oculocutaneous albinism;Oculocutaneous albinism type 1B;not provided 2017-03-31 18.0 0.6666666666666666 Pathogenic 0 -3809 Simple 80338652 A . Pathogenic/Likely pathogenic 2 2 Chédiak-Higashi syndrome;Chediak-Higashi syndrome, adult type;not provided 2017-03-23 9.0 0.5 Pathogenic/Likely pathogenic 0 -3825 Simple 121908003 T . Pathogenic/Likely pathogenic 2 2 Deficiency of butyryl-CoA dehydrogenase;not provided 2017-06-30 8.4 1.5 Pathogenic/Likely pathogenic 0 -3826 Simple 61732144 T . Pathogenic 2 6 Deficiency of butyryl-CoA dehydrogenase;not provided 2017-08-07 33.6 1.3333333333333333 Pathogenic 0 -3828 Simple 57443665 C . Pathogenic/Likely pathogenic 2 4 Deficiency of butyryl-CoA dehydrogenase;not provided 2017-05-23 20.4 0.75 Pathogenic 1 -3829 Simple 28940872 T . Pathogenic/Likely pathogenic 2 3 Deficiency of butyryl-CoA dehydrogenase;not provided 2017-08-14 12.0 0.0 Pathogenic/Likely pathogenic 0 -3833 Simple 387906308 - . Pathogenic/Likely pathogenic 2 2 Deficiency of butyryl-CoA dehydrogenase;not provided 2017-06-14 7.8 1.5 Likely pathogenic 1 -3836 Simple 28941773 T . Pathogenic/Likely pathogenic 2 2 Deficiency of butyryl-CoA dehydrogenase;not provided 2017-01-12 5.1 2.5 Likely pathogenic 1 -3837 Simple 28940875 T . Pathogenic/Likely pathogenic 2 2 Deficiency of butyryl-CoA dehydrogenase;not provided 2016-05-16 8.4 2.0 Pathogenic/Likely pathogenic 0 -3848 Simple 76151636 T . Pathogenic 2 9 Wilson disease;not specified;not provided 2017-07-16 49.2 1.4444444444444444 Pathogenic 0 -3852 Simple 28942074 A . Pathogenic 2 2 Wilson disease;not provided 2017-03-28 11.4 1.0 Pathogenic/Likely pathogenic 1 -3855 Simple 28942075 T . Pathogenic/Likely pathogenic 2 2 Wilson disease 2016-08-01 7.8 3.0 Likely pathogenic 1 -3857 Simple 121907993 C . Pathogenic/Likely pathogenic 2 2 Wilson disease 2016-12-02 8.4 2.0 Pathogenic/Likely pathogenic 0 -3859 Simple 121907990 C . Pathogenic 2 3 Wilson disease 2017-05-23 15.6 1.6666666666666667 Pathogenic 0 -3860 Simple 121907996 T . Pathogenic 2 2 Wilson disease;not provided 2016-09-27 10.2 2.5 Pathogenic/Likely pathogenic 1 -3862 Simple 121907998 C . Pathogenic/Likely pathogenic 2 6 Wilson disease 2017-06-01 27.3 2.3333333333333335 Pathogenic 1 -3864 Simple 121907999 A . Pathogenic/Likely pathogenic 2 3 Wilson disease;not provided 2017-05-01 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -3865 Simple 121908000 G . Pathogenic 2 2 Wilson disease;not specified 2017-02-07 9.6 3.0 Pathogenic/Likely pathogenic 1 -3874 Simple 11556045 G . Benign/Likely benign 2 2 Sandhoff disease;HEXB POLYMORPHISM;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -3878 Simple 28942073 T . Pathogenic/Likely pathogenic 2 4 Sandhoff disease;Sandhoff disease, adult type;Sandhoff disease, juvenile type;not provided 2016-11-12 19.2 1.75 Pathogenic 1 -3887 Simple 121907986 T . Pathogenic 2 2 Sandhoff disease;Sandhoff disease, infantile;not provided 2017-10-13 10.8 1.5 Pathogenic/Likely pathogenic 1 -3889 Simple 387906309 GATAGATA . Pathogenic 2 9 Tay-Sachs disease;not provided 2017-11-08 49.2 1.5555555555555556 Pathogenic 0 -3890 Simple 147324677 G . Pathogenic 2 2 Tay-Sachs disease;not provided 2016-09-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -3896 Simple 28941770 T . Pathogenic 2 3 Tay-Sachs disease;Tay-Sachs disease, B1 variant;Tay-sachs disease, b1 variant;Hexa, dn allele;not provided 2017-11-08 17.4 0.6666666666666666 Pathogenic 0 -3898 Simple 121907954 T . Pathogenic 2 4 Tay-Sachs disease;Gm2-gangliosidosis, adult;not provided 2017-05-24 22.8 1.0 Pathogenic 0 -3899 Simple 121907956 T . Pathogenic/Likely pathogenic 2 3 Tay-Sachs disease;Gm2-gangliosidosis, juvenile;not provided;Inborn genetic diseases 2017-11-02 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -3904 Simple 121907962 A . Pathogenic 2 2 Tay-Sachs disease;not provided 2016-04-27 11.4 1.5 Pathogenic/Likely pathogenic 1 -3920 Simple 76173977 T . Pathogenic 2 6 Tay-Sachs disease;not provided 2017-11-02 30.6 2.3333333333333335 Pathogenic 0 -3928 Simple 387906311 T . Pathogenic/Likely pathogenic 2 2 Tay-Sachs disease;Tay-sachs disease, juvenile/adult;not provided 2016-12-20 9.0 1.0 Pathogenic/Likely pathogenic 0 -3992 Simple 28940869 A . Pathogenic 2 3 Muscle eye brain disease;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3;not provided 2017-05-11 16.8 1.3333333333333333 Pathogenic 0 -4020 Simple 1800299 A . Benign/Likely benign, other 2 0 Glycogen storage disease, type II;Acid alpha-glucosidase, allele 2;not specified;not provided 2017-08-07 . . . 0 -4027 Simple 386834236 G . Pathogenic 2 9 Glycogen storage disease, type II;Glycogen storage disease II, adult form;not provided;Inborn genetic diseases 2017-09-21 52.2 1.1111111111111112 Pathogenic 0 -4033 Simple 386834235 - . Pathogenic 2 5 Glycogen storage disease, type II;not provided 2017-06-05 29.4 0.8 Pathogenic 0 -4034 Simple 121907943 T . Pathogenic 2 4 Glycogen storage disease, type II;not provided 2017-02-18 23.4 1.25 Pathogenic 0 -4082 Simple 774543080 - . Pathogenic 2 2 Ceroid lipofuscinosis neuronal 6;Neuronal ceroid lipofuscinosis;not provided 2016-09-15 11.4 1.5 Pathogenic/Likely pathogenic 1 -4089 Simple 104893915 T . Pathogenic 2 5 Atelosteogenesis type 2;Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;not provided;SLC26A2-Related Disorders 2017-04-05 27.0 1.8 Pathogenic 0 -4092 Simple 104893919 T . Pathogenic 2 7 Achondrogenesis, type IB;Atelosteogenesis type 2;Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;not provided 2016-09-16 37.2 2.142857142857143 Pathogenic 0 -4098 Simple 104893924 A . Pathogenic/Likely pathogenic 2 6 Achondrogenesis, type IB;Atelosteogenesis type 2;Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;not provided 2016-08-13 21.6 1.6666666666666667 Pathogenic 1 -4103 Simple 121908073 T . Pathogenic 2 2 Deafness, autosomal recessive 7;Nonsyndromic hearing loss and deafness 2016-06-04 9.6 3.0 Pathogenic/Likely pathogenic 1 -4108 Simple 137852944 A . Pathogenic, protective 2 5 Autosomal recessive polycystic kidney disease;Colorectal cancer, protection against;Polycystic kidney dysplasia;Oligohydramnios;not provided;Periportal fibrosis 2017-08-08 26.4 2.0 Pathogenic 0 -4114 Simple 137852949 A . Pathogenic 2 2 Autosomal recessive polycystic kidney disease 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -4143 Simple 121908070 T . Pathogenic 2 2 Sotos syndrome 1;not provided 2017-02-16 9.6 3.0 Pathogenic/Likely pathogenic 1 -4171 Simple 119473033 T . Pathogenic 2 2 Schimke immunoosseous dysplasia;Short stature;Focal segmental glomerulosclerosis;Microcephaly;Small for gestational age;Disproportionate short-trunk short stature;Decreased body weight;Atrioventricular canal defect;Congenital microcephaly;Steroid-resistant nephrotic syndrome 2016-06-14 10.2 2.5 Pathogenic/Likely pathogenic 1 -4193 Simple 104894077 T . Pathogenic 2 2 Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Neuropathy, axonal, with vocal cord paresis, autosomal recessive;not provided 2017-07-25 12.0 0.0 Pathogenic/Likely pathogenic 1 -4198 Simple 104894078 T . Pathogenic 2 3 Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease;not provided 2017-04-13 17.4 1.0 Pathogenic 0 -4200 Simple 104894080 T . Pathogenic 2 2 Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, recessive intermediate A;not provided;Sensory neuropathy;Polyneuropathy;Elevated alkaline phosphatase;Elevated serum creatine phosphokinase;Peripheral axonal neuropathy 2016-11-11 11.4 1.5 Pathogenic/Likely pathogenic 1 -4202 Simple 121908114 T . Pathogenic/Likely pathogenic 2 2 Charcot-Marie-Tooth disease type 2K;not provided 2017-02-08 9.0 1.0 Pathogenic/Likely pathogenic 0 -4221 Simple 28937900 A . Pathogenic 2 10 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;not provided;Muscular dystrophy-dystroglycanopathy;Walker-Warburg congenital muscular dystrophy 2017-08-07 59.4 0.8 Pathogenic 0 -4223 Simple 104894682 A . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Muscular dystrophy-dystroglycanopathy;Walker-Warburg congenital muscular dystrophy 2017-04-13 14.4 1.0 Pathogenic/Likely pathogenic 0 -4226 Simple 28937903 A . Pathogenic 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;Walker-Warburg congenital muscular dystrophy 2017-05-24 11.4 1.0 Pathogenic/Likely pathogenic 1 -4255 Simple 121908096 T . Pathogenic 2 2 Cholestanol storage disease;not provided 2016-09-13 12.0 1.0 Pathogenic/Likely pathogenic 1 -4262 Simple 397515355 A . Pathogenic 2 2 Cholestanol storage disease;not provided 2017-10-19 11.4 1.0 Pathogenic/Likely pathogenic 1 -4266 Simple 121908102 T . Pathogenic/Likely pathogenic 2 3 Cholestanol storage disease;not provided 2017-05-12 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -4288 Simple 421016 G . Pathogenic, risk factor 2 5 Gaucher's disease, type 1;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Parkinson disease, late-onset;Dementia, Lewy body, susceptibility to;Gaucher disease;not provided 2016-09-23 27.6 1.8 Pathogenic 0 -4290 Simple 76763715 C . Pathogenic/Likely pathogenic, risk factor 2 10 Lewy body dementia;Gaucher's disease, type 1;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal;Gaucher disease type 3C;Parkinson disease, late-onset;Dementia, Lewy body, susceptibility to;Gaucher disease;not provided;Rigidity;Akinesia;Susceptibility to Parkinson's Disease 2017-05-18 51.9 1.8 Pathogenic 1 -4293 Simple 1064651 G . Pathogenic/Likely pathogenic 2 3 Gaucher's disease, type 1;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal;Gaucher disease type 3C;Gaucher disease;not provided 2016-08-29 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -4295 Simple 80356771 A . Pathogenic, risk factor 2 3 Gaucher's disease, type 1;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Parkinson disease, late-onset;Gaucher disease;not provided 2016-09-14 15.0 2.6666666666666665 Pathogenic 0 -4302 Simple 387906315 CC . Pathogenic 2 2 Gaucher's disease, type 1 2015-12-23 10.2 2.5 Pathogenic/Likely pathogenic 1 -4311 Simple 75822236 T . Pathogenic 2 3 Gaucher's disease, type 1;Gaucher disease 2016-02-09 15.600000000000001 2.3333333333333335 Pathogenic 0 -4328 Simple 78973108 T . Pathogenic 2 2 Gaucher's disease, type 1;Gaucher disease, perinatal lethal;Gaucher disease;not provided 2016-05-06 11.4 1.5 Pathogenic/Likely pathogenic 1 -4346 Simple 119476046 T . Pathogenic 2 3 Spastic paraplegia 3;not provided 2017-06-22 17.4 0.6666666666666666 Pathogenic 0 -4352 Simple 119476050 T . Pathogenic/Likely pathogenic 2 1 Spastic paraplegia 3;Inborn genetic diseases 2016-08-31 . 1.0 . 0 -4377 Simple 121908153 A . Pathogenic 2 2 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not provided;Cryopyrin associated periodic syndrome 2017-11-28 10.2 2.5 Pathogenic/Likely pathogenic 1 -4397 Simple 111033267 T . Pathogenic 2 2 Usher syndrome, type 3A;Retinitis pigmentosa 2016-04-12 9.6 3.0 Pathogenic/Likely pathogenic 1 -4431 Simple 104894103 T . Pathogenic 2 4 Adult onset ataxia with oculomotor apraxia;not provided 2017-02-06 21.6 2.0 Pathogenic 0 -4443 Simple 113994205 A . Pathogenic 2 3 Nephropathic cystinosis 2016-06-27 16.8 1.6666666666666667 Pathogenic 0 -4451 Simple 113994207 A . Pathogenic/Likely pathogenic 2 2 Cystinosis, ocular nonnephropathic;Nephropathic cystinosis;not provided 2017-05-22 5.1 2.0 Likely pathogenic 1 -4461 Simple 121908119 A . Pathogenic 2 4 Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4;not provided;Inborn genetic diseases 2017-09-29 22.2 1.25 Pathogenic 0 -4469 Simple 137852977 A . Pathogenic 2 2 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -4470 Simple 137852978 A . Pathogenic 2 2 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 10.8 1.5 Pathogenic/Likely pathogenic 1 -4472 Simple 137852979 A . Pathogenic 2 2 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-05-08 10.8 1.5 Pathogenic/Likely pathogenic 1 -4492 Simple 121908185 A . Pathogenic/Likely pathogenic 2 3 Eichsfeld type congenital muscular dystrophy;not provided 2017-04-28 13.8 1.3333333333333333 Pathogenic/Likely pathogenic 0 -4494 Simple 368104077 AA . Pathogenic 2 4 Eichsfeld type congenital muscular dystrophy;Congenital myopathy with fiber type disproportion;not provided 2017-04-26 22.8 1.25 Pathogenic 0 -4496 Simple 121908188 A . Pathogenic 2 4 Eichsfeld type congenital muscular dystrophy;Congenital myopathy with fiber type disproportion;not provided 2017-07-24 21.6 1.5 Pathogenic 0 -4504 Simple 26722 T . Likely benign, association 2 1 Skin/hair/eye pigmentation, variation in, 5;not specified;Oculocutaneous albinism 2018-02-13 . 1.0 . 0 -4520 Simple 28937893 A . Pathogenic/Likely pathogenic 2 3 Diabetes mellitus AND insipidus with optic atrophy AND deafness;WFS1-Related Disorders;not provided 2017-08-17 9.3 2.6666666666666665 Pathogenic/Likely pathogenic 0 -4526 Simple 74315205 A . Pathogenic/Likely pathogenic 2 2 WFS1-Related Disorders;Wolfram-like syndrome, autosomal dominant;not provided;DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss 2017-07-21 7.2 2.0 Likely pathogenic 1 -4527 Simple 10010131 G . Benign/Likely benign, association 2 4 Diabetes mellitus, noninsulin-dependent, association with;not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -4543 Simple 137852972 C . Pathogenic 2 4 Distal hereditary motor neuronopathy type 5;Charcot-Marie-Tooth disease, type 2;Silver spastic paraplegia syndrome;not specified;not provided 2017-06-29 23.4 1.0 Pathogenic 0 -4544 Simple 137852973 A . Pathogenic/Likely pathogenic 2 2 Charcot-Marie-Tooth disease, type 2;Silver spastic paraplegia syndrome;Spastic paraplegia 17;not provided 2017-10-23 12.0 0.0 Pathogenic/Likely pathogenic 0 -4548 Simple 137852959 A . Pathogenic 2 4 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;Pigmentary pallidal degeneration;Neurodegeneration with brain iron accumulation 1, atypical;not provided;Inborn genetic diseases 2017-06-16 21.0 2.0 Pathogenic 0 -4572 Simple 121908177 A . Pathogenic 2 5 Bardet-Biedl syndrome;Bardet-Biedl syndrome 2;not provided 2017-08-12 29.4 0.8 Pathogenic 0 -4587 Simple 587776600 - . Pathogenic 2 2 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2017-05-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -4591 Simple 121908171 T . Pathogenic 2 2 Carpenter syndrome 1;not provided 2017-06-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -4627 Simple 80356540 G . Pathogenic 2 2 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type);not provided 2017-09-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -4665 Simple 121908156 A . Pathogenic 2 2 Severe combined immunodeficiency with sensitivity to ionizing radiation;not provided 2016-10-06 10.8 2.0 Pathogenic/Likely pathogenic 1 -4691 Simple 2066847 CC . Likely benign, risk factor 2 3 Blau syndrome;Inflammatory bowel disease 1;Crohn disease;INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO;YAO SYNDROME, SUSCEPTIBILITY TO 2017-07-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -4719 Simple 121908345 A . Pathogenic/Likely pathogenic 2 2 Megalencephalic leukoencephalopathy with subcortical cysts 1;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 5.7 1.5 Likely pathogenic 1 -4721 Simple 80358242 T . Pathogenic/Likely pathogenic 2 2 Megalencephalic leukoencephalopathy with subcortical cysts 1;not provided 2016-09-22 8.7 1.5 Pathogenic/Likely pathogenic 0 -4724 Simple 28939378 T . Pathogenic/Likely pathogenic 2 5 Congenital disorder of glycosylation type 1K;not provided;Inborn genetic diseases 2017-03-16 24.0 1.8 Pathogenic 1 -4727 Simple 121908333 A . Pathogenic 2 2 Myofibrillar myopathy, ZASP-related;not provided 2017-05-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -4728 Simple 121908334 T . Pathogenic 2 2 Primary dilated cardiomyopathy;Myofibrillar myopathy, ZASP-related;Myofibrillar myopathy;not provided 2017-05-10 10.8 1.5 Pathogenic/Likely pathogenic 1 -4741 Simple 121908332 T . Pathogenic 2 2 Birk Barel mental retardation dysmorphism syndrome;not provided 2017-10-20 11.4 1.0 Pathogenic/Likely pathogenic 1 -4755 Simple 137852981 A . Pathogenic 2 5 Mowat-Wilson syndrome;not provided 2017-05-18 26.4 1.6 Pathogenic 0 -4757 Simple 587776604 TT . Pathogenic 2 2 Mowat-Wilson syndrome;not provided 2017-05-18 10.2 2.0 Pathogenic/Likely pathogenic 1 -4787 Simple 104894714 A . Pathogenic 2 4 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth disease, demyelinating, type 4f;Autosomal recessive Dejerine-Sottas syndrome;not provided 2017-04-05 21.6 1.75 Pathogenic 0 -4801 Simple 119482083 T . Pathogenic/Likely pathogenic 2 2 Neuropathy hereditary sensory and autonomic type 1;not provided 2017-07-31 6.0 0.0 Likely pathogenic 1 -4817 Simple 80338848 C . Pathogenic 2 5 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2017-10-31 28.8 1.0 Pathogenic 0 -4818 Simple 28939086 C . Pathogenic 2 3 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2016-10-26 16.8 1.6666666666666667 Pathogenic 0 -4819 Simple 80338849 A . Pathogenic 2 5 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided;SLC26A4-Related Disorders 2017-01-24 26.400000000000002 2.2 Pathogenic 0 -4820 Simple 111033244 G . Pathogenic/Likely pathogenic 2 3 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2017-08-10 11.7 2.6666666666666665 Pathogenic/Likely pathogenic 0 -4821 Simple 111033303 T . Pathogenic 2 4 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2017-08-10 22.2 1.5 Pathogenic 0 -4825 Simple 121908362 G . Pathogenic/Likely pathogenic 2 5 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2017-07-01 24.0 1.4 Pathogenic 1 -4826 Simple 121908363 T . Pathogenic/Likely pathogenic 2 3 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2017-07-01 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -4829 Simple 111033307 G . Pathogenic 2 3 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2015-10-10 15.0 2.6666666666666665 Pathogenic 0 -4835 Simple 111033199 T . Pathogenic 2 5 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided;SLC26A4-Related Disorders 2017-05-18 27.0 1.8 Pathogenic 0 -4836 Simple 111033254 C . Pathogenic/Likely pathogenic 2 3 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-01-27 12.6 2.6666666666666665 Pathogenic/Likely pathogenic 0 -4839 Simple 111033205 C . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2015-09-14 7.800000000000001 2.5 Likely pathogenic 1 -4840 Simple 111033313 G . Pathogenic/Likely pathogenic 2 5 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2017-07-01 24.0 1.8 Pathogenic 1 -4847 Simple 587784365 . . Pathogenic 2 3 Early infantile epileptic encephalopathy 10;not provided;Ataxia-oculomotor apraxia 4 2017-10-05 16.8 1.3333333333333333 Pathogenic 0 -4877 Simple 119481077 A . Pathogenic/Likely pathogenic 2 2 Testosterone 17-beta-dehydrogenase deficiency;not provided;17-Beta-Hydroxysteroid Dehydrogenase III Deficiency;Pseudohermaphroditism 2017-05-04 6.0 0.5 Likely pathogenic 1 -4916 Simple 111033270 A . Pathogenic 2 3 Usher syndrome, type 1D;not provided;CDH23-Related Disorders 2017-06-02 15.0 2.3333333333333335 Pathogenic 0 -4933 Simple 111033260 A . Pathogenic 2 3 Deafness, autosomal recessive 23;Usher syndrome, type 1G;Usher syndrome, type 1;Usher syndrome, type 1D;Usher syndrome, type 1F;not provided 2017-10-18 14.4 3.0 Pathogenic/Likely pathogenic 1 -4960 Simple 137852994 A . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2015-05-04 9.0 3.5 Pathogenic/Likely pathogenic 1 -4967 Simple 137852987 A . Pathogenic 2 2 Sitosterolemia;not provided 2016-05-09 11.4 1.5 Pathogenic/Likely pathogenic 1 -4968 Simple 137852988 A . Pathogenic/Likely pathogenic 2 2 Sitosterolemia 2016-06-14 9.0 1.0 Pathogenic/Likely pathogenic 0 -4999 Simple 267607143 A . Pathogenic 2 3 Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;Charcot-Marie-Tooth disease;not provided;Neuromuscular Diseases 2017-09-08 16.2 1.3333333333333333 Pathogenic 0 -5000 Simple 267607144 T . Pathogenic/Likely pathogenic 2 4 Distal spinal muscular atrophy, congenital nonprogressive;Charcot-Marie-Tooth disease type 2C;Charcot-Marie-Tooth disease;not provided;Neuromuscular Diseases 2017-02-13 20.4 1.25 Pathogenic 1 -5003 Simple 3742030 A . Benign, association 2 10 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Sodium serum level quantitative trait locus 1;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-01-23 -58.2 1.3 Benign 0 -5026 Simple 28937882 A . Pathogenic/Likely pathogenic 2 2 Autosomal dominant hypophosphatemic rickets;not provided 2015-11-20 6.9 3.0 Likely pathogenic 1 -5045 Simple 121918550 G . Pathogenic/Likely pathogenic 2 3 Glucocorticoid deficiency with achalasia;Hyperreflexia;not provided;Spastic paraparesis;Babinski sign 2016-09-27 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -5050 Simple 28937880 A . Uncertain significance 2 2 Heterotopia, periventricular, autosomal recessive;not specified 2017-01-19 -0.6 1.0 Uncertain significance 0 -5082 Simple 80356530 - . Pathogenic 2 3 Abortive cerebellar ataxia;Dominant hereditary optic atrophy;Mitochondrial diseases;not provided 2017-05-01 16.8 1.3333333333333333 Pathogenic 0 -5091 Simple 80356529 A . Pathogenic 2 2 Autosomal dominant optic atrophy plus syndrome;Dominant hereditary optic atrophy;Mitochondrial diseases;not provided 2017-04-07 10.2 2.5 Pathogenic/Likely pathogenic 1 -5097 Simple 118203595 - . Pathogenic 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided 2016-11-04 16.8 1.6666666666666667 Pathogenic 0 -5107 Simple 104894635 T . Pathogenic 2 4 Mucopolysaccharidosis, MPS-III-A;Sanfilippo syndrome;not provided;Mucopolysaccharidosis Type III 2017-11-02 23.4 0.75 Pathogenic 0 -5108 Simple 104894636 A . Pathogenic 2 3 Mucopolysaccharidosis, MPS-III-A;not provided 2017-06-15 18.0 0.3333333333333333 Pathogenic 0 -5111 Simple 104894637 C . Pathogenic 2 2 Mucopolysaccharidosis, MPS-III-A;not provided 2017-02-10 10.8 2.0 Pathogenic/Likely pathogenic 1 -5117 Simple 104894640 T . Pathogenic 2 2 Mucopolysaccharidosis, MPS-III-A;not provided 2015-09-03 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -5131 Simple 104886461 G . Pathogenic 2 3 Mucolipidosis type IV;not provided 2017-10-30 16.8 1.3333333333333333 Pathogenic 0 -5133 Simple 121908371 T . Pathogenic/Likely pathogenic 2 2 Mucolipidosis type IV;not provided 2016-06-03 8.4 2.0 Pathogenic/Likely pathogenic 0 -5136 Simple 121908373 T . Pathogenic 2 2 Mucolipidosis type IV;not provided 2017-09-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -5141 Simple 397515359 GG . Pathogenic 2 2 Usher syndrome, type 1C;Deafness, autosomal recessive 18;Usher syndrome, type 1;Usher syndrome, type 1C;Usher syndrome 2017-01-03 11.4 1.5 Pathogenic/Likely pathogenic 1 -5143 Simple 151045328 T . Pathogenic/Likely pathogenic 2 2 Usher syndrome, type 1C;Usher syndrome, type 1;Usher syndrome 2016-05-19 10.2 2.5 Pathogenic/Likely pathogenic 0 -5180 Simple 80358233 - . Pathogenic 2 2 Dystonia 1;Dystonia;not provided;Dystonia 2017-06-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -5182 Simple 1801968 G . Benign/Likely benign, protective, risk factor 2 2 Dystonia 1;Dystonia 1, torsion, modifier of;not specified 2016-11-17 -8.4 1.5 Benign/Likely benign 0 -5269 Simple 2303067 G . Benign 2 3 Netherton syndrome;not specified;SPINK5 POLYMORPHISM 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -5277 Simple 281865163 . . Pathogenic 2 3 Hermansky-Pudlak syndrome 1;not provided 2017-06-01 17.4 1.0 Pathogenic 0 -5293 Simple 34612342 C . Pathogenic 2 14 Endometrial carcinoma;MYH-associated polyposis;Pilomatrixoma;Carcinoma of colon;Neoplasm of stomach;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-11 78.6 1.3571428571428572 Pathogenic 0 -5294 Simple 36053993 T . Pathogenic/Likely pathogenic 2 15 Endometrial carcinoma;MYH-associated polyposis;Pilomatrixoma;Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas;Carcinoma of colon;Neoplasm of stomach;not specified;not provided;Hereditary cancer-predisposing syndrome;Small intestine carcinoid 2017-10-26 84.6 1.2 Pathogenic 1 -5296 Simple 121908380 T . Pathogenic 2 6 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-09-01 35.4 0.5 Pathogenic 0 -5297 Simple 121908381 A . Pathogenic 2 6 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 33.6 1.3333333333333333 Pathogenic 0 -5326 Simple 121908427 A . Pathogenic 2 2 Andermann syndrome 2017-06-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -5356 Simple 121908419 A . Pathogenic/Likely pathogenic 2 3 Deficiency of isobutyryl-CoA dehydrogenase;not provided 2016-08-18 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -5357 Simple 121908420 T . Pathogenic/Likely pathogenic 2 2 Deficiency of isobutyryl-CoA dehydrogenase;not provided 2017-10-27 6.0 0.5 Likely pathogenic 1 -5368 Simple 74315347 T . Pathogenic/Likely pathogenic 2 2 Nephrotic syndrome, idiopathic, steroid-resistant;not provided 2016-08-16 8.4 2.0 Pathogenic/Likely pathogenic 0 -5447 Simple 113993961 C . Pathogenic 2 2 Werner syndrome;not provided 2017-06-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -5454 Simple 113993962 TAGATTC . Pathogenic 2 4 Bloom syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-11-01 22.8 1.25 Pathogenic 0 -5493 Simple 121908445 C . Uncertain significance, risk factor 2 2 Autism 15;Cortical dysplasia-focal epilepsy syndrome;not specified 2017-04-12 -0.6 0.5 Uncertain significance 0 -5502 Simple 137853146 A . Pathogenic 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not provided 2017-07-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -5512 Simple 281865117 - . Pathogenic 2 3 Spastic ataxia Charlevoix-Saguenay type;not provided;Spastic paraplegia 2017-06-02 18.0 0.6666666666666666 Pathogenic 0 -5532 Simple 28937873 A . Pathogenic/Likely pathogenic 2 2 Enhanced s-cone syndrome;Goldmann-Favre syndrome;not provided;NR2E3-Related Disorders 2017-08-24 12.0 0.5 Pathogenic/Likely pathogenic 0 -5533 Simple 121912631 A . Pathogenic/Likely pathogenic 2 3 Retinitis pigmentosa 37;not provided 2016-07-22 13.200000000000001 2.6666666666666665 Pathogenic/Likely pathogenic 0 -5544 Simple 104894415 T . Pathogenic 2 3 Hidrotic ectodermal dysplasia syndrome;Nonsyndromic hearing loss and deafness;not provided 2016-08-03 15.6 2.3333333333333335 Pathogenic 0 -5565 Simple 62637014 T . Pathogenic 2 4 Leber congenital amaurosis 4;Leber congenital amaurosis;not provided;AIPL1-Related Disorders 2016-06-14 22.8 1.5 Pathogenic 0 -5592 Simple 137853007 A . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;Li-Fraumeni syndrome 2;not specified;not provided;Hereditary cancer-predisposing syndrome;CHEK2-Related Cancer Susceptibility 2017-09-11 18.0 0.3333333333333333 Pathogenic 1 -5604 Simple 397515363 TT . Pathogenic 2 2 Kartagener syndrome;Primary ciliary dyskinesia 2017-06-22 10.8 1.5 Pathogenic/Likely pathogenic 1 -5615 Simple 80338794 A . Pathogenic 2 3 Salla disease;not provided 2015-08-21 15.600000000000001 2.3333333333333335 Pathogenic 0 -5636 Simple 80356708 - . Pathogenic 2 2 Primary hyperoxaluria, type II 2016-05-02 11.4 1.5 Pathogenic/Likely pathogenic 1 -5645 Simple 121908524 A . Pathogenic 2 2 Primary hyperoxaluria, type I 2016-05-11 10.8 2.0 Pathogenic/Likely pathogenic 1 -5660 Simple 121908511 T . Pathogenic 2 3 Spastic paraplegia 4, autosomal dominant;not provided;Spastic paraparesis 2017-09-08 17.4 1.0 Pathogenic 0 -5671 Simple 121908515 T . Benign/Likely benign, risk factor 2 5 Spastic paraplegia 4, autosomal dominant;Spastic paraplegia 4, modifier of;not specified;not provided;Spastic Paraplegia, Dominant 2017-02-17 -24.0 1.0 Benign 1 -5681 Simple 74315511 T . Pathogenic 2 2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;Myopia 6;not provided 2017-09-08 12.0 0.0 Pathogenic/Likely pathogenic 1 -5721 Simple 267607203 A . Pathogenic 2 4 Cerebral cavernous malformation;Cerebral cavernous malformations 1;not specified;not provided 2017-08-07 23.4 1.0 Pathogenic 0 -5736 Simple 137853137 T . Pathogenic 2 2 Retinitis pigmentosa 12;Leber congenital amaurosis 8;not provided 2017-12-12 10.8 1.5 Pathogenic/Likely pathogenic 1 -5739 Simple 62636275 A . Pathogenic 2 2 Retinitis pigmentosa 12;Leber congenital amaurosis 8;not provided 2016-04-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -5769 Simple 121908490 A . Pathogenic 2 2 Myoclonic dystonia 2017-04-28 10.8 1.5 Pathogenic/Likely pathogenic 1 -5772 Simple 863223283 - . Pathogenic 2 2 Myoclonic dystonia;not provided 2017-07-31 12.0 0.0 Pathogenic/Likely pathogenic 1 -5782 Simple 79389353 T . Pathogenic/Likely pathogenic 2 3 Cystinuria;not provided 2017-11-08 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -5828 Simple 587776625 - . Pathogenic 2 2 Polymicrogyria, bilateral frontoparietal;not provided 2017-07-21 9.6 2.5 Pathogenic/Likely pathogenic 1 -5834 Simple 28937597 T . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 1A;not provided 2016-07-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -5836 Simple 121908458 G . Pathogenic 2 2 Myotilinopathy;Myofibrillar myopathy 2017-06-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -5837 Simple 121908458 T . Pathogenic 2 2 Myotilinopathy 2016-11-11 11.4 1.5 Pathogenic/Likely pathogenic 1 -5847 Simple 121434304 G . Pathogenic/Likely pathogenic 2 2 Congenital stationary night blindness, type 1B;not provided 2017-01-26 5.7 1.5 Likely pathogenic 1 -5852 Simple 121908452 A . Pathogenic 2 2 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Autosomal dominant hypohidrotic ectodermal dysplasia;not provided;Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant 2017-06-20 11.4 1.0 Pathogenic/Likely pathogenic 1 -5853 Simple 121908453 T . Pathogenic/Likely pathogenic 2 2 Autosomal dominant hypohidrotic ectodermal dysplasia;not provided;Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant 2016-07-25 9.0 1.0 Pathogenic/Likely pathogenic 0 -5858 Simple 3827760 G . Benign, association 2 2 Hair morphology 1, hair thickness;not specified;Hypohidrotic Ectodermal Dysplasia, Dominant 2016-08-04 -10.8 2.0 Benign/Likely benign 1 -5896 Simple 80338957 A . Pathogenic 2 2 Familial hyperkalemic periodic paralysis;Paramyotonia congenita/hyperkalemic periodic paralysis;Hyperkalemic Periodic Paralysis Type 1;not provided 2017-06-19 12.0 0.0 Pathogenic/Likely pathogenic 1 -5897 Simple 80338962 C . Pathogenic 2 2 Familial hyperkalemic periodic paralysis;Paramyotonia congenita/hyperkalemic periodic paralysis;Hyperkalemic Periodic Paralysis Type 1;not provided 2017-04-06 12.0 0.0 Pathogenic/Likely pathogenic 1 -5898 Simple 121908544 A . Pathogenic 2 4 Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;not provided 2017-03-16 23.4 1.0 Pathogenic 0 -5903 Simple 80338792 A . Pathogenic 2 2 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;not provided 2017-05-18 11.4 1.0 Pathogenic/Likely pathogenic 1 -5904 Simple 121908547 A . Pathogenic 2 4 Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;not provided 2017-06-14 22.8 1.25 Pathogenic 0 -5906 Simple 121908549 C . Pathogenic 2 2 Myotonia congenita, atypical, acetazolamide-responsive;not provided 2017-05-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -5908 Simple 80338792 G . Pathogenic 2 3 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;not provided 2017-05-24 15.600000000000001 2.0 Pathogenic 0 -5909 Simple 121908551 T . Pathogenic 2 2 Paramyotonia congenita of von Eulenburg;not provided;SCN4A-related disorder 2016-05-04 11.4 1.5 Pathogenic/Likely pathogenic 1 -5910 Simple 121908552 T . Pathogenic 2 3 Potassium aggravated myotonia;Hyperkalemic Periodic Paralysis Type 1;not provided 2017-04-21 17.4 1.0 Pathogenic 0 -5919 Simple 121908557 T . Pathogenic 2 2 Normokalemic periodic paralysis, potassium-sensitive;Hyperkalemic Periodic Paralysis Type 1;not provided;Myopathy 2016-08-12 12.0 1.0 Pathogenic/Likely pathogenic 1 -5920 Simple 80338792 T . Pathogenic 2 2 Potassium aggravated myotonia;Hyperkalemic Periodic Paralysis Type 1;not provided 2017-04-18 12.0 0.0 Pathogenic/Likely pathogenic 1 -5942 Simple 28939717 G . Pathogenic 2 2 Leukoencephalopathy with vanishing white matter;not provided 2016-06-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -5945 Simple 113994049 A . Pathogenic 2 3 Leukoencephalopathy with vanishing white matter;Ovarioleukodystrophy;not provided 2017-05-05 17.4 1.0 Pathogenic 0 -5965 Simple 104894082 T . Pathogenic 2 2 Retinitis pigmentosa 1;not provided 2016-03-23 10.2 2.5 Pathogenic/Likely pathogenic 1 -5969 Simple 2293869 T . Benign/Likely benign 2 2 Hypertriglyceridemia, susceptibility to;not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -6025 Simple 28937594 G . Pathogenic 2 4 Inclusion body myopathy 2;Nonaka myopathy;Sialuria;not provided 2016-09-13 23.4 1.25 Pathogenic 0 -6028 Simple 121908627 T . Pathogenic/Likely pathogenic 2 5 Inclusion body myopathy 2;Nonaka myopathy;Sialuria;not provided 2017-07-18 23.7 0.8 Pathogenic 1 -6030 Simple 121908629 T . Pathogenic/Likely pathogenic 2 2 Inclusion body myopathy 2;Nonaka myopathy 2016-06-30 5.7 1.5 Likely pathogenic 1 -6033 Simple 121908632 G . Pathogenic 2 3 Inclusion body myopathy 2;Nonaka myopathy;Sialuria 2016-02-23 15.0 2.6666666666666665 Pathogenic 0 -6035 Simple 62541771 A . Pathogenic 2 6 Inclusion body myopathy 2;Nonaka myopathy;Sialuria;not provided 2017-05-01 35.4 0.8333333333333334 Pathogenic 0 -6039 Simple 112292549 A . Pathogenic 2 2 Peeling skin syndrome;Peeling skin syndrome, acral type;not provided 2017-09-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -6052 Simple 16991652 G . Benign, risk factor 2 3 Long QT syndrome 6;Long QT syndrome 6, acquired, susceptibility to;not specified;not provided;Cardiovascular phenotype 2017-07-20 -15.0 2.3333333333333335 Benign/Likely benign 1 -6053 Simple 74315447 C . Pathogenic/Likely pathogenic 2 2 Cardiac arrhythmia;Long QT syndrome 6;not provided;Congenital long QT syndrome;KCNE2-Related Disorders 2017-09-26 6.0 0.5 Likely pathogenic 1 -6057 Simple 104894519 T . Pathogenic 2 3 Charcot-Marie-Tooth disease, type 1C;not provided 2017-06-26 16.8 1.3333333333333333 Pathogenic 0 -6085 Simple 111033171 G . Pathogenic 2 4 Familial dysautonomia;not provided 2017-07-31 22.8 1.0 Pathogenic 0 -6103 Simple 121908611 T . Pathogenic 2 2 Spastic paraplegia 5A;not provided;Spastic paraplegia 2017-07-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -6105 Simple 121908613 T . Pathogenic 2 4 Spastic paraplegia 5A;Hereditary spastic paraplegia;not provided;Spastic paraplegia 2017-03-16 24.0 0.5 Pathogenic 0 -6137 Simple 80356593 A . Pathogenic, association 2 2 Deafness, autosomal recessive 9;Nonsyndromic hearing loss and deafness;not provided 2016-06-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -6167 Simple 28937590 G . Pathogenic 2 4 GRACILE syndrome;not provided 2017-09-20 22.2 1.25 Pathogenic 0 -6169 Simple 121908576 T . Pathogenic/Likely pathogenic 2 5 GRACILE syndrome;Mitochondrial complex III deficiency;not provided;BCS1L-Related Disorders 2017-02-07 26.1 1.4 Pathogenic 1 -6174 Simple 144885874 T . Pathogenic/Likely pathogenic 2 2 Mitochondrial complex III deficiency;not provided 2017-09-20 8.4 1.5 Pathogenic/Likely pathogenic 0 -6195 Simple 121908680 C . Pathogenic 2 2 Infantile neuroaxonal dystrophy;not provided;Iron accumulation in brain 2016-02-13 10.2 2.5 Pathogenic/Likely pathogenic 1 -6198 Simple 587784343 - . Pathogenic 2 2 Infantile neuroaxonal dystrophy;not provided;Iron accumulation in brain 2015-07-18 9.0 3.5 Pathogenic/Likely pathogenic 1 -6201 Simple 587784353 - . Pathogenic 2 2 Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2b;not provided;Iron accumulation in brain 2017-08-04 9.6 2.5 Pathogenic/Likely pathogenic 1 -6326 Simple 121908638 A . Pathogenic/Likely pathogenic 2 3 Citrullinemia type I;not provided 2016-11-22 15.0 1.0 Pathogenic 1 -6327 Simple 121908639 A . Pathogenic/Likely pathogenic 2 3 Citrullinemia type I 2017-07-24 11.1 1.6666666666666667 Pathogenic/Likely pathogenic 0 -6328 Simple 121908640 T . Pathogenic/Likely pathogenic 2 6 Citrullinemia type I;not specified;not provided 2017-10-31 27.0 1.6666666666666667 Pathogenic 1 -6329 Simple 121908641 A . Pathogenic/Likely pathogenic 2 5 Citrullinemia type I;not provided 2017-10-20 25.5 1.0 Pathogenic 1 -6416 Simple 121908886 T . Pathogenic 2 3 Renal carnitine transport defect;not provided 2017-11-16 18.0 0.3333333333333333 Pathogenic 0 -6417 Simple 121908887 AA . Pathogenic/Likely pathogenic 2 2 Renal carnitine transport defect 2014-10-26 6.6 3.5 Likely pathogenic 1 -6420 Simple 121908888 G . Pathogenic/Likely pathogenic 2 3 Renal carnitine transport defect;not provided 2017-01-13 8.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -6422 Simple 121908890 T . Pathogenic/Likely pathogenic 2 2 Renal carnitine transport defect 2016-07-18 8.4 2.0 Pathogenic/Likely pathogenic 0 -6426 Simple 121908893 T . Pathogenic 2 4 Renal carnitine transport defect;not specified;not provided 2017-04-17 22.2 1.25 Pathogenic 0 -6427 Simple 267607054 T . Pathogenic/Likely pathogenic 2 3 Renal carnitine transport defect;not provided 2016-09-08 11.1 2.0 Pathogenic/Likely pathogenic 0 -6428 Simple 267607053 AT . Pathogenic/Likely pathogenic 2 2 Renal carnitine transport defect;not provided 2017-03-27 9.0 0.5 Pathogenic/Likely pathogenic 0 -6429 Simple 267607052 T . Pathogenic/Likely pathogenic 2 3 Renal carnitine transport defect;not provided 2017-03-27 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -6430 Simple 61747482 C . Benign/Likely benign 2 2 Hyperthyroidism, nonautoimmune;Congenital hypothyroidism;THYROTROPIN RECEPTOR POLYMORPHISM;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -6533 Simple 121908840 A . Pathogenic 2 2 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Rapp-Hodgkin ectodermal dysplasia syndrome;not provided;TP63-Related Spectrum Disorders 2018-01-05 12.0 0.0 Pathogenic/Likely pathogenic 1 -6559 Simple 72653706 A . Pathogenic 2 6 Pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste;Generalized arterial calcification of infancy 2;not provided;Cutis laxa;Papule 2017-04-26 33.0 1.6666666666666667 Pathogenic 0 -6572 Simple 72653744 A . Pathogenic 2 2 Pseudoxanthoma elasticum;not provided 2017-08-07 11.4 1.0 Pathogenic/Likely pathogenic 1 -6590 Simple 11568372 C . Pathogenic 2 3 Benign recurrent intrahepatic cholestasis 2;Progressive familial intrahepatic cholestasis 2;Familial Intrahepatic Cholestasis 2016-10-29 16.8 1.6666666666666667 Pathogenic 0 -6668 Simple 121908955 T . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided 2017-04-07 22.200000000000003 1.5 Pathogenic 0 -6676 Simple 121908959 T . Pathogenic 2 6 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Myopathy, distal, with anterior tibial onset;not provided 2017-10-04 33.6 1.3333333333333333 Pathogenic 0 -6685 Simple 727503909 - . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy 2017-07-27 22.200000000000003 1.5 Pathogenic 0 -6730 Simple 121918321 T . Pathogenic 2 2 Early infantile epileptic encephalopathy 4;not provided;Early infantile epileptic encephalopathy 2017-08-11 12.0 0.0 Pathogenic/Likely pathogenic 1 -6747 Simple 121434422 T . Pathogenic 2 2 Bilateral right-sidedness sequence;Transposition of the great arteries, dextro-looped 3;Heterotaxy syndrome;not provided 2017-02-07 12.0 1.0 Pathogenic/Likely pathogenic 1 -6754 Simple 121434420 A . Pathogenic 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided;Cardiovascular phenotype 2017-09-15 23.4 0.5 Pathogenic 0 -6755 Simple 121434421 A . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy 2016-08-25 8.7 1.5 Pathogenic/Likely pathogenic 0 -6756 Simple 193922674 G . Pathogenic/Likely pathogenic 2 7 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided;Cardiovascular phenotype 2017-11-09 34.5 1.1428571428571428 Pathogenic 1 -6757 Simple 111517471 T . Pathogenic/Likely pathogenic 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-07-31 24.900000000000002 1.6 Pathogenic 1 -6774 Simple 61750435 TT . Pathogenic 2 3 Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B;not provided 2016-07-22 17.4 1.3333333333333333 Pathogenic 0 -6783 Simple 80338853 A . Pathogenic/Likely pathogenic 2 4 Smith-Lemli-Opitz syndrome;not provided;Abnormality of brain morphology 2017-06-09 21.6 1.5 Pathogenic 1 -6787 Simple 80338860 A . Pathogenic 2 2 Smith-Lemli-Opitz syndrome;not provided 2016-09-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -6789 Simple 121909765 A . Pathogenic/Likely pathogenic 2 2 Smith-Lemli-Opitz syndrome;not provided 2016-05-02 6.0 1.0 Likely pathogenic 1 -6792 Simple 80338864 T . Pathogenic/Likely pathogenic 2 2 Smith-Lemli-Opitz syndrome 2015-06-06 6.9 3.0 Likely pathogenic 1 -6794 Simple 104886033 C . Pathogenic/Likely pathogenic 2 3 Smith-Lemli-Opitz syndrome;not provided 2017-08-16 10.2 2.0 Pathogenic/Likely pathogenic 0 -6795 Simple 121909768 T . Pathogenic 2 3 Smith-Lemli-Opitz syndrome;not provided 2016-09-19 16.8 1.6666666666666667 Pathogenic 0 -6808 Simple 121434443 G . Pathogenic/Likely pathogenic 2 2 Spastic paraplegia 10;not provided;Spastic paraplegia 2017-07-11 9.0 0.5 Pathogenic/Likely pathogenic 0 -6816 Simple 121918358 A . Pathogenic 2 2 Spastic paraplegia 7;not provided 2017-04-14 12.0 0.5 Pathogenic/Likely pathogenic 1 -6819 Simple 141659620 A . Pathogenic/Likely pathogenic 2 5 Spastic paraplegia 7;not provided;Spastic Paraplegia, Recessive 2017-10-18 25.5 1.2 Pathogenic 1 -6821 Simple 267607048 G . Pathogenic 3 12 Noonan syndrome-like disorder with loose anagen hair 1;Noonan syndrome;not specified;not provided;Rasopathy 2017-04-03 61.8 1.5 Pathogenic 0 -6822 Simple 267606997 A . Pathogenic/Likely pathogenic 2 4 Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-07-21 12.0 0.25 Pathogenic/Likely pathogenic 0 -6846 Simple 121908987 T . Pathogenic 2 3 Glycogen storage disease of heart, lethal congenital;Familial hypertrophic cardiomyopathy 6;Wolff-Parkinson-White pattern;Primary familial hypertrophic cardiomyopathy;not provided 2017-08-10 17.4 1.0 Pathogenic 0 -6852 Simple 121908991 T . Pathogenic 2 3 Glycogen storage disease of heart, lethal congenital;Primary familial hypertrophic cardiomyopathy;not provided 2017-06-20 13.8 3.0 Pathogenic/Likely pathogenic 1 -6855 Simple 267606978 G . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 6;Primary familial hypertrophic cardiomyopathy;not provided 2016-10-03 4.8 3.0 Likely pathogenic 1 -6893 Simple 80338843 T . Pathogenic 2 3 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-08-30 17.4 1.0 Pathogenic 0 -6896 Simple 80338844 T . Pathogenic 2 5 Pheochromocytoma;Paragangliomas 1;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified;Paragangliomas 1 with sensorineural hearing loss;not provided;Hereditary cancer-predisposing syndrome 2017-10-23 28.2 0.8 Pathogenic 0 -6897 Simple 80338845 T . Pathogenic 2 2 Pheochromocytoma;Paragangliomas 1;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-22 12.0 0.0 Pathogenic/Likely pathogenic 1 -6900 Simple 104894304 G . Pathogenic 2 2 Paragangliomas 1;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-09-28 10.2 2.0 Pathogenic/Likely pathogenic 1 -6903 Simple 104894306 T . Pathogenic 2 2 Pheochromocytoma;Paragangliomas 1;Hereditary cancer-predisposing syndrome 2016-02-04 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -6906 Simple 80338842 C . Pathogenic 2 2 Paragangliomas 1;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-05-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -6908 Simple 397514034 - . Pathogenic 2 2 Paragangliomas 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-31 12.0 0.0 Pathogenic/Likely pathogenic 1 -6913 Simple 104894308 A . Pathogenic 2 2 Paragangliomas 1;Hereditary cancer-predisposing syndrome 2017-08-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -6915 Simple 104894309 A . Pathogenic 2 2 Pheochromocytoma;Paragangliomas 1;Hereditary cancer-predisposing syndrome 2017-08-17 12.0 0.0 Pathogenic/Likely pathogenic 1 -6917 Simple 587776649 - . Pathogenic 2 2 Paraganglioma and gastric stromal sarcoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2016-05-23 11.4 1.5 Pathogenic/Likely pathogenic 1 -6921 Simple 80356490 A . Pathogenic 2 2 Glucose-6-phosphate transport defect;not provided 2016-09-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -6926 Simple 80356491 - . Pathogenic 2 3 Phosphate transport defect;Glucose-6-phosphate transport defect 2017-11-20 16.8 1.3333333333333333 Pathogenic 0 -6940 Simple 587776650 - . Pathogenic, risk factor 2 9 Microcephaly, normal intelligence and immunodeficiency;Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome;Microcephaly;Lissencephaly 2017-10-26 49.2 1.5555555555555556 Pathogenic 0 -6945 Simple 121908973 A . Pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-03-15 10.8 1.5 Pathogenic/Likely pathogenic 1 -7029 Simple 1801394 G . drug response 3 2 Gastrointestinal stromal tumor;Disorders of Intracellular Cobalamin Metabolism;Neural tube defects, folate-sensitive, susceptibility to;Down syndrome, susceptibility to;not specified;methotrexate response - Toxicity/ADR . -10.2 2.5 . 0 -7077 Simple 137853050 T . Pathogenic 2 2 Lissencephaly 3;not provided 2016-06-09 9.6 3.0 Pathogenic/Likely pathogenic 1 -7105 Simple 113993960 - . Pathogenic 4 13 Cystic fibrosis;Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1, modifier of;not specified;not provided;ivacaftor response - Efficacy;ivacaftor / lumacaftor response - Efficacy 2004-03-03 72.15 2.230769230769231 Pathogenic 0 -7106 Simple 121908745 - . Pathogenic 4 6 Cystic fibrosis;Hereditary pancreatitis;not provided 2004-03-03 30.15 4.166666666666667 Pathogenic 0 -7107 Simple 77101217 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7108 Simple 113993958 C . Pathogenic 3 2 Cystic fibrosis;not provided 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -7109 Simple 78655421 A . Pathogenic 4 10 Cystic fibrosis;Hereditary pancreatitis;Congenital bilateral absence of the vas deferens;not specified;not provided;ivacaftor response - Efficacy 2004-03-03 43.65 2.9 Pathogenic 0 -7110 Simple 77932196 C . Pathogenic 4 4 Cystic fibrosis;not specified 2004-03-03 21.75 4.25 Pathogenic 0 -7111 Simple 74551128 A . Pathogenic 4 4 Cystic fibrosis 2004-03-03 21.75 4.0 Pathogenic 0 -7112 Simple 76713772 A . Pathogenic 4 7 Cystic fibrosis;not specified;not provided 2004-03-03 39.15 2.7142857142857144 Pathogenic 0 -7113 Simple 80055610 C . Pathogenic 4 5 Cystic fibrosis;not provided 2004-03-03 25.35 4.4 Pathogenic 0 -7115 Simple 113993959 T . Pathogenic 4 9 Cystic fibrosis;Hereditary pancreatitis;not specified;not provided;ataluren response - Efficacy 2004-03-03 48.75 2.7777777777777777 Pathogenic 0 -7116 Simple 121908755 A . Pathogenic, drug response 3 2 Cystic fibrosis;ivacaftor response - Efficacy 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7120 Simple 75527207 A . Pathogenic 4 9 Cystic fibrosis;Hereditary pancreatitis;not specified;not provided;ivacaftor response - Efficacy 2004-03-03 49.35 2.7777777777777777 Pathogenic 0 -7122 Simple 74597325 T . Pathogenic 4 7 Cystic fibrosis;Hereditary pancreatitis;not provided 2004-03-03 38.55 3.142857142857143 Pathogenic 0 -7123 Simple 75549581 A . Pathogenic 3 5 Cystic fibrosis;Hereditary pancreatitis;not provided 2017-03-17 27.6 1.6 Pathogenic 0 -7124 Simple 121908811 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7125 Simple 76649725 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -7127 Simple 267606722 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7129 Simple 77010898 A . Pathogenic 4 9 Cystic fibrosis;Hereditary pancreatitis;not specified;not provided;ataluren response - Efficacy 2004-03-03 49.35 2.5555555555555554 Pathogenic 0 -7130 Simple 213950 A . Benign/Likely benign 2 3 Cystic fibrosis;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -7134 Simple 1131692275 TCTC . Pathogenic 3 5 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 24.0 2.2 Pathogenic 0 -7135 Simple 387906361 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7136 Simple 80034486 G . Pathogenic 4 8 Cystic fibrosis;not provided 2004-03-03 43.35 2.875 Pathogenic 0 -7137 Simple 74767530 T . Pathogenic 4 4 Cystic fibrosis;not provided 2004-03-03 21.75 4.25 Pathogenic 0 -7138 Simple 387906362 G . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.6 0.5 Pathogenic/Likely pathogenic 1 -7139 Simple 121909011 T . Pathogenic 4 7 Cystic fibrosis;not specified;not provided 2004-03-03 38.55 3.0 Pathogenic 0 -7140 Simple 121908776 - . Pathogenic 3 3 Cystic fibrosis 2017-03-17 18.0 1.0 Pathogenic 0 -7141 Simple 121909012 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -7142 Simple 121909013 A . Pathogenic/Likely pathogenic, drug response 3 3 Cystic fibrosis;not provided;ivacaftor response - Efficacy 2017-03-17 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -7143 Simple 75961395 A . Pathogenic 4 4 Cystic fibrosis;not provided 2004-03-03 21.15 4.5 Pathogenic 0 -7144 Simple 79850223 T . Pathogenic 3 3 Cystic fibrosis;not provided 2017-03-17 18.0 0.6666666666666666 Pathogenic 0 -7145 Simple 121908804 . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7149 Simple 121908788 G . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7150 Simple 77646904 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7151 Simple 121908754 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.6 0.5 Pathogenic/Likely pathogenic 1 -7155 Simple 121909017 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.6 0.5 Pathogenic/Likely pathogenic 1 -7156 Simple 80055610 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7158 Simple 121909019 A . Pathogenic 3 2 Cystic fibrosis;not specified 2017-03-17 12.6 0.0 Pathogenic/Likely pathogenic 1 -7160 Simple 143570767 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7162 Simple 78194216 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7163 Simple 121908744 - . Pathogenic 3 5 Cystic fibrosis;Hereditary pancreatitis;not provided 2017-03-17 25.2 2.6 Pathogenic 0 -7166 Simple 75039782 T . Pathogenic 4 7 Cystic fibrosis;Hereditary pancreatitis;not specified 2004-03-03 36.15 3.5714285714285716 Pathogenic 0 -7168 Simple 121908748 A . Pathogenic 4 3 Cystic fibrosis 2004-03-03 15.75 5.333333333333333 Pathogenic 0 -7175 Simple 141158996 A . Pathogenic 3 3 Cystic fibrosis 2017-03-17 15.0 1.3333333333333333 Pathogenic 0 -7177 Simple 387906369 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7179 Simple 121909025 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7180 Simple 121909026 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -7181 Simple 121908751 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -7182 Simple 77932196 A . Pathogenic 3 5 Cystic fibrosis;not specified;not provided 2017-03-17 29.4 1.2 Pathogenic 0 -7185 Simple 121908787 AA . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7186 Simple 121908751 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7187 Simple 79282516 T . Pathogenic/Likely pathogenic 2 3 Cystic fibrosis;Hereditary pancreatitis 2015-06-14 11.100000000000001 3.3333333333333335 Pathogenic/Likely pathogenic 0 -7190 Simple 121908752 G . Pathogenic 3 6 Cystic fibrosis;Hereditary pancreatitis;not specified;not provided 2017-03-17 34.8 1.0 Pathogenic 0 -7192 Simple 121909041 C . Pathogenic/Likely pathogenic, drug response 3 2 Cystic fibrosis;Ivacaftor response 2017-03-17 9.6 0.5 Pathogenic/Likely pathogenic 0 -7193 Simple 77409459 T . Pathogenic 3 3 Cystic fibrosis;not specified 2017-03-17 18.0 0.6666666666666666 Pathogenic 0 -7194 Simple 78802634 A . Pathogenic 3 4 Cystic fibrosis;not specified 2017-03-17 24.0 0.75 Pathogenic 0 -7198 Simple 121908753 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7201 Simple 76554633 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7203 Simple 75115087 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7204 Simple 79633941 T . Pathogenic 3 3 Cystic fibrosis;not provided 2017-03-17 18.0 0.6666666666666666 Pathogenic 0 -7205 Simple 121909034 T . Benign/Likely benign 2 4 Cystic fibrosis;not specified 2017-07-03 -18.0 0.75 Benign/Likely benign 0 -7208 Simple 121909036 C . Pathogenic 3 4 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 22.8 1.5 Pathogenic 0 -7211 Simple 121908761 G . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7212 Simple 121908764 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7215 Simple 75389940 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7217 Simple 74503330 A . Pathogenic, drug response 3 2 Cystic fibrosis;not provided;ivacaftor response - Efficacy 2017-04-04 12.6 0.0 Pathogenic/Likely pathogenic 1 -7219 Simple 121908775 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -7222 Simple 387906378 TCAATCAA . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7224 Simple 75096551 A . Pathogenic 4 7 Cystic fibrosis;Hereditary pancreatitis;not specified 2004-03-03 38.55 3.0 Pathogenic 0 -7231 Simple 121908784 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -7232 Simple 121908769 - . Pathogenic 3 3 Cystic fibrosis;not specified 2017-03-17 18.0 1.0 Pathogenic 0 -7240 Simple 121909047 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -7281 Simple 121909091 T . Pathogenic 2 3 Myopathy, centronuclear, 1;not provided;Myopathy, centronuclear 2017-06-21 13.8 3.0 Pathogenic/Likely pathogenic 1 -7282 Simple 121909092 A . Pathogenic 2 3 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;Myopathy, centronuclear, 1;Myopathy, centronuclear 2017-06-13 15.6 2.0 Pathogenic 0 -7285 Simple 121909095 T . Pathogenic 2 2 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;Severe X-linked myotubular myopathy;Myopathy, centronuclear 2017-05-07 9.6 2.5 Pathogenic/Likely pathogenic 1 -7287 Simple 267606772 A . Pathogenic/Likely pathogenic 2 3 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;Charcot-Marie-Tooth disease, type 2M;not provided 2017-04-12 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -7350 Simple 111033570 A . Pathogenic 2 2 Bardet-Biedl syndrome;Sarcotubular myopathy;Myopathy 2017-03-18 11.4 1.0 Pathogenic/Likely pathogenic 1 -7371 Simple 121909121 T . Pathogenic/Likely pathogenic 2 3 Pitt-Hopkins syndrome;not provided 2017-10-27 15.0 0.0 Pathogenic 1 -7372 Simple 121909122 A . Pathogenic 2 5 Pitt-Hopkins syndrome;not provided 2017-06-07 26.4 2.0 Pathogenic 0 -7390 Simple 118192244 - . Pathogenic 2 2 Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy 7;not provided 2017-11-15 10.8 1.5 Pathogenic/Likely pathogenic 1 -7413 Simple 7903146 T . drug response 3 0 Diabetes mellitus type 2;sulfonamides, urea derivatives response - Efficacy . . . . 0 -7443 Simple 137853076 T . Pathogenic 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-01-10 12.0 1.0 Pathogenic/Likely pathogenic 1 -7445 Simple 137853077 C . Pathogenic/Likely pathogenic 2 3 Peutz-Jeghers syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-01-16 12.0 1.0 Pathogenic/Likely pathogenic 0 -7479 Simple 29001571 T . Pathogenic 2 2 Charcot-Marie-Tooth disease type 2F;Distal hereditary motor neuronopathy type 2B;not provided 2017-04-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -7497 Simple 137853063 T . Pathogenic 2 3 Pontocerebellar hypoplasia type 1A;Multiple congenital anomalies;not provided;Inborn genetic diseases 2017-07-10 13.8 3.0 Pathogenic/Likely pathogenic 1 -7516 Simple 61750420 T . Pathogenic 2 6 Zellweger syndrome;Peroxisome biogenesis disorders, Zellweger syndrome spectrum;Leber congenital amaurosis;not provided;Peroxisome biogenesis disorder 1B 2017-07-13 33.0 1.6666666666666667 Pathogenic 0 -7519 Simple 61750415 AA . Pathogenic 2 6 Zellweger syndrome;Deafness enamel hypoplasia nail defects;Peroxisome biogenesis disorders, Zellweger syndrome spectrum;not provided 2017-11-16 35.4 0.6666666666666666 Pathogenic 0 -7548 Simple 121909146 G . Pathogenic 2 2 Fibrous dysplasia of jaw;not provided 2017-10-03 11.4 1.0 Pathogenic/Likely pathogenic 1 -7582 Simple 28938169 A . Benign/Likely benign 2 2 Phytanic acid storage disease;not specified;not provided 2016-06-14 -7.8 2.0 Likely benign 1 -7655 Simple 137853096 A . Pathogenic/Likely pathogenic 2 4 Bifunctional peroxisomal enzyme deficiency;not provided 2017-08-17 17.7 1.0 Pathogenic 1 -7656 Simple 137853097 T . Pathogenic/Likely pathogenic 2 3 Bifunctional peroxisomal enzyme deficiency;Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance;not provided 2017-07-27 14.7 1.0 Pathogenic/Likely pathogenic 0 -7673 Simple 104894419 A . Pathogenic/Likely pathogenic 2 3 Lig4 syndrome;not provided 2016-04-26 13.8 2.0 Pathogenic/Likely pathogenic 0 -7676 Simple 1805389 A . Benign/Likely benign, protective 2 3 Lig4 syndrome;Severe combined immunodeficiency with sensitivity to ionizing radiation;Multiple myeloma, resistance to;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -7677 Simple 1805388 A . Benign, protective 2 4 Lig4 syndrome;Severe combined immunodeficiency with sensitivity to ionizing radiation;Multiple myeloma, resistance to;not specified 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -7706 Simple 28936415 A . Pathogenic 2 9 Carbohydrate-deficient glycoprotein syndrome type I;Congenital disorder of glycosylation;not provided 2017-10-16 51.0 1.2222222222222223 Pathogenic 0 -7708 Simple 104894525 A . Pathogenic/Likely pathogenic 2 3 Carbohydrate-deficient glycoprotein syndrome type I;not provided 2016-08-18 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -7709 Simple 104894526 T . Pathogenic/Likely pathogenic 2 2 Carbohydrate-deficient glycoprotein syndrome type I;not provided 2015-12-31 7.800000000000001 2.5 Likely pathogenic 1 -7711 Simple 80338701 A . Pathogenic 2 5 Carbohydrate-deficient glycoprotein syndrome type I;Congenital disorder of glycosylation 2017-07-05 26.4 2.0 Pathogenic 0 -7716 Simple 80338708 G . Pathogenic/Likely pathogenic 2 3 Carbohydrate-deficient glycoprotein syndrome type I;Congenital disorder of glycosylation 2016-06-14 12.3 3.0 Pathogenic/Likely pathogenic 0 -7717 Simple 80338709 C . Pathogenic 2 4 Carbohydrate-deficient glycoprotein syndrome type I;not provided 2017-04-25 22.2 1.5 Pathogenic 0 -7719 Simple 80338707 A . Pathogenic 2 3 Carbohydrate-deficient glycoprotein syndrome type I 2017-07-17 16.8 1.3333333333333333 Pathogenic 0 -7723 Simple 80338700 T . Pathogenic 2 2 Carbohydrate-deficient glycoprotein syndrome type I 2016-04-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -7735 Simple 55989760 T . Pathogenic 2 2 Glaucoma, congenital 2017-04-01 11.4 1.0 Pathogenic/Likely pathogenic 1 -7737 Simple 72549387 T . Pathogenic/Likely pathogenic 2 3 Glaucoma, congenital;Irido-corneo-trabecular dysgenesis;not provided;CYP1B1-Related Disorders;Anterior segment dysgenesis 6 2017-04-19 13.2 1.6666666666666667 Pathogenic/Likely pathogenic 0 -7762 Simple 1045485 C . Benign/Likely benign, protective 2 2 Caspase-8 deficiency;Breast cancer, protection against;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -7780 Simple 1805137 A . Pathogenic/Likely pathogenic 2 8 Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1;Peroxisome biogenesis disorder 9B;not provided;PEX7-Related Disorders 2017-10-02 42.0 1.375 Pathogenic 1 -7782 Simple 121909152 A . Pathogenic/Likely pathogenic 2 3 Rhizomelic chondrodysplasia punctata type 1;Peroxisome biogenesis disorder 9B 2016-03-04 13.5 2.0 Pathogenic/Likely pathogenic 0 -7783 Simple 121909153 T . Pathogenic/Likely pathogenic 2 2 Rhizomelic chondrodysplasia punctata type 1;not provided 2016-03-03 8.100000000000001 2.0 Likely pathogenic 1 -7785 Simple 148591292 C . Pathogenic 2 6 Rhizomelic chondrodysplasia punctata type 1;Peroxisome biogenesis disorder 9B;not provided;PEX7-Related Disorders 2017-11-21 33.0 1.6666666666666667 Pathogenic 0 -7788 Simple 61753238 G . Pathogenic/Likely pathogenic 2 2 Rhizomelic chondrodysplasia punctata type 1;Peroxisome biogenesis disorder 9B;PEX7-Related Disorders 2016-06-14 7.8 2.0 Likely pathogenic 1 -7812 Simple 121909218 A . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not provided 2017-03-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -7813 Simple 121909219 T . Pathogenic 2 6 Macrocephaly/autism syndrome;Bannayan-Riley-Ruvalcaba syndrome;Non-small cell lung cancer;PTEN hamartoma tumor syndrome;Cowden syndrome 1;not specified;not provided;Neoplasm of the breast;Glioblastoma;Hereditary cancer-predisposing syndrome;Colorectal Neoplasms 2017-10-17 35.4 0.5 Pathogenic 0 -7819 Simple 121909224 T . Pathogenic/Likely pathogenic 2 6 Macrocephaly/autism syndrome;Bannayan-Riley-Ruvalcaba syndrome;PTEN hamartoma tumor syndrome;Cowden syndrome 1;not specified;not provided;Neoplasm of brain;Hereditary cancer-predisposing syndrome;Ovarian Neoplasms 2017-10-18 36.0 0.6666666666666666 Pathogenic 1 -7820 Simple 587776667 A . Pathogenic/Likely pathogenic 2 2 Endometrial carcinoma;PTEN hamartoma tumor syndrome;Cowden syndrome 1;not provided 2017-07-05 9.0 0.5 Pathogenic/Likely pathogenic 0 -7829 Simple 121909229 A . Pathogenic/Likely pathogenic 2 4 Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Kidney cancer;PTEN hamartoma tumor syndrome;Squamous cell carcinoma of lung;Cowden syndrome 1;not provided;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hereditary cancer-predisposing syndrome;Neoplasm;Ovarian Neoplasms;Colorectal Neoplasms;Uterine cervical neoplasms;Adenocarcinoma of stomach;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-11-06 22.8 1.0 Pathogenic 1 -7833 Simple 121909231 T . Pathogenic/Likely pathogenic 2 7 Macrocephaly/autism syndrome;Bannayan-Riley-Ruvalcaba syndrome;Proteus-like syndrome;PTEN hamartoma tumor syndrome;Cowden syndrome 1;not provided;Neoplasm of brain;Hereditary cancer-predisposing syndrome 2017-10-05 39.6 1.0 Pathogenic 1 -7836 Simple 121909232 A . Pathogenic 2 2 Cowden syndrome 1;Malignant melanoma;Hereditary cancer-predisposing syndrome 2017-01-23 12.0 1.0 Pathogenic/Likely pathogenic 1 -7852 Simple 121909241 T . Pathogenic/Likely pathogenic 2 2 PTEN hamartoma tumor syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-24 8.7 1.0 Pathogenic/Likely pathogenic 0 -7882 Simple 61751408 A . Pathogenic 2 2 Cone-rod dystrophy 3;Stargardt disease 1;not provided 2017-04-06 11.4 1.0 Pathogenic/Likely pathogenic 1 -7885 Simple 1800555 T . Likely benign, risk factor 2 5 MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO;not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -14.7 1.2 Benign/Likely benign 1 -7888 Simple 1800553 T . Pathogenic/Likely pathogenic, risk factor 2 6 Cone-rod dystrophy 3;Stargardt disease 1;MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO;not provided;Retinal dystrophy;Macular dystrophy;ABCA4-Related Disorders 2017-05-05 33.0 1.6666666666666667 Pathogenic 1 -7894 Simple 61751374 A . Pathogenic/Likely pathogenic 2 3 Cone-rod dystrophy 3;Stargardt disease 1;not provided;Retinal dystrophy 2017-03-21 16.2 1.6666666666666667 Pathogenic 1 -7898 Simple 61750200 A . Pathogenic 2 3 Cone-rod dystrophy 3;Stargardt disease 1;not provided 2017-04-26 15.6 2.0 Pathogenic 0 -7904 Simple 61750130 A . Pathogenic/Likely pathogenic, risk factor 2 3 Mandibulofacial dysostosis with mental deficiency;Stargardt disease 1;MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO;not provided 2017-03-08 15.600000000000001 2.0 Pathogenic 1 -7993 Simple 104894378 T . Pathogenic/Likely pathogenic 2 3 Holt-Oram syndrome;Aortic valve disease 2;not provided 2017-11-07 14.1 1.3333333333333333 Pathogenic/Likely pathogenic 0 -8045 Simple 28997576 G . Benign/Likely benign, risk factor 2 6 Familial cancer of breast;Breast cancer, susceptibility to;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-21 -28.8 2.0 Benign 1 -8074 Simple 121434483 T . Pathogenic 2 2 Lissencephaly 1;not provided 2016-03-09 9.6 3.0 Pathogenic/Likely pathogenic 1 -8098 Simple 193922688 - . Pathogenic 2 4 Pituitary hormone deficiency, combined 2;Pituitary hormone deficiency, combined;not provided;Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 18.0 3.5 Pathogenic 0 -8108 Simple 104893941 T . Pathogenic/Likely pathogenic 2 3 Paget disease of bone, familial;not provided;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Paget disease of bone 2017-04-18 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -8243 Simple 121909284 A . Pathogenic 2 3 Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not specified;not provided 2017-09-08 18.0 0.6666666666666666 Pathogenic 0 -8249 Simple 28936401 T . Pathogenic 2 3 Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not specified;not provided 2017-07-24 18.0 0.0 Pathogenic 0 -8251 Simple 121909287 T . Pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not provided 2017-04-23 10.8 1.5 Pathogenic/Likely pathogenic 1 -8254 Simple 28936688 A . Pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not specified 2017-06-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -8272 Simple 121434497 C . Pathogenic 3 2 not provided;Cardiofaciocutaneous syndrome 4;Cardio-facio-cutaneous syndrome 2017-05-09 12.6 0.5 Pathogenic/Likely pathogenic 1 -8273 Simple 121434498 C . Pathogenic 3 1 Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Cardiofaciocutaneous syndrome 4;Pancreatic adenocarcinoma;Cardio-facio-cutaneous syndrome;Adenocarcinoma of stomach 2017-05-09 . 0.0 . 0 -8274 Simple 121434499 G . Likely pathogenic 3 4 not provided;Rasopathy;Cardiofaciocutaneous syndrome 4;Cardio-facio-cutaneous syndrome 2017-05-09 13.8 2.5 Pathogenic/Likely pathogenic 1 -8275 Simple 267607230 T . Pathogenic 3 2 not provided;Cardiofaciocutaneous syndrome 4;Cardio-facio-cutaneous syndrome 2017-05-09 10.8 2.0 Pathogenic/Likely pathogenic 1 -8283 Simple 116840778 A . Pathogenic 2 5 Creatine phosphokinase, elevated serum;Limb-girdle muscular dystrophy, type 1C;Rippling muscle disease;Rippling muscle disease 2;Long QT syndrome;Distal myopathy, Tateyama type;not provided 2017-07-24 27.0 1.8 Pathogenic 0 -8285 Simple 28936686 A . Pathogenic/Likely pathogenic 2 2 Rippling muscle disease 2, autosomal recessive;Long QT syndrome;not provided 2017-07-10 9.0 0.5 Pathogenic/Likely pathogenic 0 -8314 Simple 104893689 A . Pathogenic 2 3 Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;not provided 2016-09-20 18.0 1.0 Pathogenic 0 -8331 Simple 28936684 A . Pathogenic 2 2 Hypocalciuric hypercalcemia, familial, type 1;not provided;Hypocalcemia, autosomal dominant 1 2017-08-09 12.0 0.0 Pathogenic/Likely pathogenic 1 -8333 Simple 121909264 A . Pathogenic/Likely pathogenic 2 2 Hypocalciuric hypercalcemia, familial, type 1;not provided;Hypocalcemia, autosomal dominant 1 2017-05-22 8.4 1.0 Pathogenic/Likely pathogenic 0 -8349 Simple 1801725 T . Benign, association 2 7 Hypoparathyroidism familial isolated;Neonatal severe hyperparathyroidism;Serum calcium level;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia 2017-07-17 -40.2 1.2857142857142858 Benign 0 -8350 Simple 104893712 A . Pathogenic 2 2 not provided;Hypocalcemia, autosomal dominant 1 2017-03-29 11.4 1.0 Pathogenic/Likely pathogenic 1 -8395 Simple 147484110 G . Pathogenic 2 5 Unverricht-Lundborg syndrome;not provided;Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 2017-09-20 28.2 1.4 Pathogenic 0 -8408 Simple 1057910 C . drug response 3 0 Tolbutamide response;Phenytoin response;Glipizide response;Warfarin response;not provided;acenocoumarol response - Dosage, Toxicity/ADR;Antiinflammatory agents, non-steroids response - Toxicity/ADR;celecoxib response - Dosage;celecoxib response - Toxicity/ADR;diclofenac response - Toxicity/ADR;warfarin response - Dosage, Toxicity/ADR . . . . 0 -8409 Simple 1799853 T . drug response 3 1 Warfarin response;not specified;warfarin response - Dosage . . 2.0 . 0 -8433 Simple 104894621 A . Pathogenic 2 3 Dejerine-Sottas disease;Dejerine-Sottas syndrome, autosomal dominant;Charcot-Marie-Tooth disease, type I;not provided 2017-04-21 16.8 1.0 Pathogenic 0 -8466 Simple 267606621 T . Pathogenic 2 2 Charcot-Marie-Tooth disease, type 2N;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease 2015-08-18 10.2 2.5 Pathogenic/Likely pathogenic 1 -8468 Simple 121909329 T . Pathogenic 2 2 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Amyotrophic lateral sclerosis 14 without frontotemporal dementia;not provided 2017-05-04 12.0 0.0 Pathogenic/Likely pathogenic 1 -8473 Simple 121909334 T . Pathogenic/Likely pathogenic 2 2 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;not provided 2017-07-24 9.0 0.0 Pathogenic/Likely pathogenic 0 -8488 Simple 121908212 A . Pathogenic 2 3 Episodic ataxia type 2;Familial hemiplegic migraine type 1;Migraine, sporadic hemiplegic, with progressive cerebellar ataxia;not provided 2016-08-30 16.2 2.0 Pathogenic 0 -8495 Simple 121908216 T . Pathogenic/Likely pathogenic 2 2 Episodic ataxia type 2;not provided 2017-04-03 6.0 0.5 Likely pathogenic 1 -8521 Simple 1137101 G . Benign 2 3 LEPTIN RECEPTOR POLYMORPHISM;Leptin receptor deficiency;not specified;Monogenic Non-Syndromic Obesity 2017-07-26 -18.0 0.6666666666666666 Benign/Likely benign 1 -8523 Simple 1137100 G . Benign 2 3 LEPTIN RECEPTOR POLYMORPHISM;Leptin receptor deficiency;not specified;Monogenic Non-Syndromic Obesity 2017-07-28 -18.0 0.6666666666666666 Benign/Likely benign 1 -8543 Simple 80338963 T . Pathogenic/Likely pathogenic 2 2 Juvenile polyposis syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;JP, JP/HHT, and HHT;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Carcinoma of esophagus;Colorectal Neoplasms;Uterine cervical neoplasms;Adenocarcinoma of stomach 2016-06-16 10.8 2.0 Pathogenic/Likely pathogenic 0 -8603 Simple 193922384 . . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-08-08 17.4 0.6666666666666666 Pathogenic 1 -8608 Simple 121909374 G . Pathogenic/Likely pathogenic 2 9 Familial hypertrophic cardiomyopathy 1;Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-04 47.7 1.3333333333333333 Pathogenic 1 -8616 Simple 121909377 A . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided 2017-01-12 10.8 2.0 Pathogenic/Likely pathogenic 0 -8621 Simple 387906397 C . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Inborn genetic diseases 2017-09-15 29.4 0.4 Pathogenic 1 -8658 Simple 6180 C . Benign, risk factor 2 3 Laron-type isolated somatotropin defect;Familial hypercholesterolemia;not specified 2017-06-29 -16.8 1.3333333333333333 Benign/Likely benign 1 -8667 Simple 80356616 T . Pathogenic 2 2 Permanent neonatal diabetes mellitus;Diabetes mellitus, permanent neonatal, with neurologic features;Neonatal insulin-dependent diabetes mellitus 2015-04-30 9.0 3.5 Pathogenic/Likely pathogenic 1 -8678 Simple 5219 C . Benign/Likely benign, drug response, risk factor 2 9 Permanent neonatal diabetes mellitus;Islet cell hyperplasia;Diabetes mellitus type 2;Exercise stress response, impaired, association with;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-28 -41.4 1.5555555555555556 Benign 1 -8712 Simple 28936383 C . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 2E 2016-07-27 10.8 2.0 Pathogenic/Likely pathogenic 1 -8731 Simple 781222705 C . Pathogenic 2 2 Mitochondrial trifunctional protein deficiency;Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided 2016-07-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -8759 Simple 76466003 T . Likely benign, risk factor 2 1 Hirschsprung disease 3;not specified;Hirschsprung Disease, Dominant 2016-06-14 . 1.0 . 0 -8812 Simple 137852753 T . Pathogenic 2 2 Primary pulmonary hypertension;Pulmonary hypertension, primary, dexfenfluramine-associated;not provided 2017-03-03 12.0 1.0 Pathogenic/Likely pathogenic 1 -8859 Simple 137852783 A . Benign/Likely benign, risk factor 2 2 Maturity-onset diabetes of the young, type 4;Diabetes mellitus type 2;not specified;Monogenic diabetes 2016-09-26 -6.0 1.0 Likely benign 1 -8899 Simple 137852695 A . Pathogenic 2 2 Ceroid lipofuscinosis neuronal 1;Neuronal ceroid lipofuscinosis;not provided 2017-04-07 11.4 1.0 Pathogenic/Likely pathogenic 1 -8900 Simple 137852696 G . Pathogenic 2 2 Ceroid lipofuscinosis neuronal 1;not provided 2017-06-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -8903 Simple 137852699 T . Pathogenic/Likely pathogenic 2 3 Ceroid lipofuscinosis neuronal 1;not provided 2016-12-19 13.2 2.3333333333333335 Pathogenic/Likely pathogenic 0 -8904 Simple 137852700 A . Pathogenic 2 10 Ceroid lipofuscinosis neuronal 1;Neuronal ceroid lipofuscinosis;not provided;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-08-10 56.4 1.3 Pathogenic 0 -8913 Simple 121434638 A . Pathogenic 2 2 Distal arthrogryposis type 2B;not provided;Arthyrgryposis, distal, type 2B 2017-07-14 11.4 1.0 Pathogenic/Likely pathogenic 1 -8919 Simple 104894578 T . Pathogenic 2 2 Andersen Tawil syndrome;not provided;Congenital long QT syndrome 2017-04-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -8931 Simple 2020912 C . Benign 3 8 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Colorectal / endometrial cancer;Hereditary nonpolyposis colon cancer 2013-09-05 -32.52 2.5 Benign 0 -8932 Simple 63750955 TT . Pathogenic 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 32.22 2.0 Pathogenic 0 -8953 Simple 74315294 T . Pathogenic 2 8 Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL;Carnitine palmitoyltransferase II deficiency;Encephalopathy, acute, infection-induced, 4, susceptibility to;not provided 2017-07-07 45.0 1.125 Pathogenic 0 -8954 Simple 28936375 A . Pathogenic 2 3 Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;Carnitine palmitoyltransferase II deficiency;not provided 2016-12-08 16.2 2.0 Pathogenic 0 -8968 Simple 121918528 G . Pathogenic/Likely pathogenic 2 4 Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL;Carnitine palmitoyltransferase II deficiency 2016-07-07 11.100000000000001 1.75 Pathogenic/Likely pathogenic 0 -9038 Simple 71318369 T . Uncertain significance, risk factor 2 2 Epilepsy with grand mal seizures on awakening;Epilepsy, juvenile myoclonic 8;not provided;Leukoencephalopathy with ataxia 2017-07-26 -0.6 0.5 Uncertain significance 0 -9071 Simple 80356780 T . Pathogenic/Likely pathogenic 2 2 Carnitine palmitoyltransferase I deficiency 2016-05-09 7.8 2.0 Likely pathogenic 1 -9088 Simple 151344623 T . Pathogenic 2 4 Persistent hyperinsulinemic hypoglycemia of infancy;not provided 2017-04-11 20.4 2.25 Pathogenic 0 -9099 Simple 137852672 T . Pathogenic 2 2 Persistent hyperinsulinemic hypoglycemia of infancy 2016-02-19 10.2 2.5 Pathogenic/Likely pathogenic 1 -9112 Simple 137852665 A . Pathogenic 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Werdnig-Hoffmann disease;not provided 2015-09-23 10.8 2.0 Pathogenic/Likely pathogenic 1 -9225 Simple 137852642 A . Pathogenic/Likely pathogenic 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not provided;Recurrent subcortical infarcts 2017-05-03 8.1 2.0 Likely pathogenic 1 -9234 Simple 63750871 A . Pathogenic 3 6 Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.02 1.1666666666666667 Pathogenic 0 -9235 Simple 587776715 - . Pathogenic 3 2 Turcot syndrome;Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -9237 Simple 63751466 A . Pathogenic 3 5 Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.62 1.2 Pathogenic 0 -9240 Simple 63750049 - . Pathogenic 3 6 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.02 1.5 Pathogenic 0 -9242 Simple 63750451 A . Pathogenic 3 4 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.25 Pathogenic 0 -9245 Simple 121434629 A . Likely pathogenic 3 15 Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-03-14 61.44 1.7333333333333334 Pathogenic 2 -9252 Simple 104894718 G . Pathogenic/Likely pathogenic 2 6 Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus;not provided;Atrial fibrillation, familial, 13 2017-07-21 28.8 2.0 Pathogenic 1 -9259 Simple 137852638 T . Pathogenic/Likely pathogenic 2 2 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;not provided 2017-09-06 9.0 0.5 Pathogenic/Likely pathogenic 0 -9318 Simple 11571658 - . Pathogenic 3 14 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 77.4 1.5 Pathogenic 0 -9319 Simple 80359605 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 57.0 1.2 Pathogenic 0 -9320 Simple 80359530 - . Pathogenic 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 82.2 1.8 Pathogenic 0 -9322 Simple 80359351 - . Pathogenic 3 18 Familial cancer of breast;Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 97.8 1.5555555555555556 Pathogenic 0 -9325 Simple 80359550 - . Pathogenic 3 20 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Breast-ovarian cancer, familial 1;Pancreatic cancer 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;BRCA2-Related Disorders 2016-04-22 112.8 1.4 Pathogenic 0 -9326 Simple 80359671 - . Pathogenic 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 52.2 1.2222222222222223 Pathogenic 0 -9328 Simple 80359714 - . Pathogenic 3 12 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 68.4 1.3333333333333333 Pathogenic 0 -9329 Simple 144848 C . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Ductal breast carcinoma 2015-01-12 -68.28 2.230769230769231 Benign 0 -9340 Simple 80359062 G . Pathogenic 3 6 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome;BRCA2-Related Disorders 2015-08-10 29.34 1.1666666666666667 Pathogenic 0 -9342 Simple 1131692273 - . Pathogenic 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Medulloblastoma;Wilms tumor 1;Breast-ovarian cancer, familial 1;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 84.0 1.6 Pathogenic 0 -9343 Simple 80359070 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;not provided 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -9344 Simple 80358695 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -9346 Simple 80358785 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Medulloblastoma;Wilms tumor 1;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -9347 Simple 80359180 T . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 58.2 1.0 Pathogenic 0 -9348 Simple 81002897 A . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-10 19.8 1.25 Pathogenic 1 -9349 Simple 81002899 G . Pathogenic 2 9 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-05 51.6 1.1111111111111112 Pathogenic 0 -9369 Simple 28937316 T . Pathogenic 2 4 Long QT syndrome 3;Brugada syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-04-05 22.8 1.25 Pathogenic 0 -9374 Simple 137854613 A . Pathogenic 2 2 Long QT syndrome 3;Sick sinus syndrome 1, autosomal recessive;not provided;Arrhythmogenic right ventricular dysplasia/cardiomyopathy 2017-09-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -9377 Simple 137854601 T . Pathogenic 2 5 Brugada syndrome 1;Long QT syndrome 3;Sinus node disease;Brugada syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-07-31 29.4 0.6 Pathogenic 0 -9383 Simple 137854604 A . Pathogenic/Likely pathogenic 2 4 Brugada syndrome 1;Paroxysmal familial ventricular fibrillation 1;Brugada syndrome;not provided;Ventricular fibrillation;Cardiovascular phenotype 2017-02-02 13.2 2.5 Pathogenic/Likely pathogenic 0 -9385 Simple 137854607 T . Pathogenic/Likely pathogenic 2 2 Progressive familial heart block type 1A;Brugada syndrome;not provided;Atrioventricular block 2017-02-10 9.0 1.0 Pathogenic/Likely pathogenic 0 -9390 Simple 28937318 T . Pathogenic 2 2 Brugada syndrome 1;Brugada syndrome 2017-06-28 12.0 0.0 Pathogenic/Likely pathogenic 1 -9395 Simple 137854612 T . Pathogenic 2 2 Brugada syndrome 1;Sick sinus syndrome 1, autosomal recessive;Cardiac conduction defect, nonspecific;Brugada syndrome;not provided 2017-08-23 12.0 0.0 Pathogenic/Likely pathogenic 1 -9401 Simple 137854618 T . Pathogenic 2 2 Dilated cardiomyopathy 1E;Atrial fibrillation, familial, 10;Brugada syndrome;not provided;Atrial standstill 1, digenic 2017-02-08 12.0 1.0 Pathogenic/Likely pathogenic 1 -9414 Simple 104894095 G . Pathogenic, risk factor 2 4 Cutaneous malignant melanoma 2;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-09-27 24.0 0.0 Pathogenic 0 -9415 Simple 104894097 G . Pathogenic/Likely pathogenic, risk factor 2 6 Melanoma-pancreatic cancer syndrome;Cutaneous malignant melanoma 2;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-10 28.8 1.0 Pathogenic 1 -9420 Simple 104894098 T . Pathogenic, risk factor 2 5 Melanoma-pancreatic cancer syndrome;Cutaneous malignant melanoma 2;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-31 30.0 0.4 Pathogenic 0 -9423 Simple 104894099 C . Likely pathogenic, risk factor 2 4 Melanoma-pancreatic cancer syndrome;Cutaneous malignant melanoma 2;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-05-27 12.0 0.75 Pathogenic/Likely pathogenic 1 -9425 Simple 104894109 A . Pathogenic, risk factor 2 2 Cutaneous malignant melanoma 2;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-03-14 12.0 0.5 Pathogenic/Likely pathogenic 1 -9433 Simple 267606752 T . Pathogenic 2 2 Rubinstein-Taybi syndrome;not provided 2016-03-15 9.6 3.0 Pathogenic/Likely pathogenic 1 -9435 Simple 137852621 A . Pathogenic/Likely pathogenic 2 4 Limb-girdle muscular dystrophy, type 2D 2017-04-17 19.2 1.75 Pathogenic 1 -9437 Simple 28933693 T . Pathogenic 2 8 Limb-girdle muscular dystrophy, type 2D;not provided 2017-07-17 44.4 1.5 Pathogenic 0 -9439 Simple 137852623 T . Pathogenic/Likely pathogenic 2 6 Limb-girdle muscular dystrophy, type 2D;not provided 2017-03-16 31.2 1.5 Pathogenic 1 -9538 Simple 1799971 G . drug response 3 0 Opioid dependence 1;alfentanil response - Metabolism/PK;Drugs used in opioid dependence response - Metabolism/PK;naloxone response - Efficacy;ethanol response - Toxicity/ADR;fentanyl response - Metabolism/PK;heroin response - Metabolism/PK;morphine response - Metabolism/PK;naltrexone response - Metabolism/PK;opioids response - Metabolism/PK;tramadol response - Metabolism/PK . . . . 0 -9589 Simple 199474657 G . Pathogenic 2 2 3-Methylglutaconic aciduria;Cyclical vomiting syndrome;Diabetes-deafness syndrome maternally transmitted;Age-related macular degeneration 2;Myoclonus with epilepsy with ragged red fibers;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;Mitochondrial diseases;MERRF/MELAS overlap syndrome;Muscle stiffness, painful;not specified;not provided 2017-05-26 10.8 1.5 Pathogenic/Likely pathogenic 1 -9628 Simple 267606617 G . drug response 3 2 Aminoglycoside-induced deafness;Deafness, nonsyndromic sensorineural, mitochondrial;Cardiomyopathy, restrictive;not provided;aminoglycoside antibacterials response - Toxicity/ADR . 9.0 3.5 . 0 -9631 Simple 267606618 C . drug response 3 1 Aminoglycoside-induced deafness;Auditory neuropathy;Deafness, nonsyndromic sensorineural, mitochondrial;not specified;aminoglycoside antibacterials response - Toxicity/ADR . . 3.0 . 0 -9632 Simple 267606619 T . drug response 3 0 Aminoglycoside-induced deafness;Deafness, nonsyndromic sensorineural, mitochondrial;aminoglycoside antibacterials response - Toxicity/ADR . . . . 0 -9641 Simple 199476133 G . Pathogenic 2 3 Neuropathy ataxia retinitis pigmentosa syndrome;Leigh syndrome;Mitochondrial diseases;Cerebellar ataxia;Bilateral cleft lip and palate;Low-set ears;not provided;Premature birth;Wide intermamillary distance;Scrotal hypoplasia;Hypertelorism;Postaxial hand polydactyly;Camptodactyly of finger 2017-05-22 14.399999999999999 3.0 Pathogenic/Likely pathogenic 1 -9708 Simple 199476112 A . Pathogenic 2 2 Leber's optic atrophy;not specified;not provided 2017-05-12 10.8 1.5 Pathogenic/Likely pathogenic 1 -9982 Simple 104894858 T . Pathogenic 2 2 Danon disease;not provided 2017-05-31 10.2 2.0 Pathogenic/Likely pathogenic 1 -9990 Simple 137852520 T . Pathogenic 2 2 X-linked hydrocephalus syndrome;not provided;Hydrocephalus due to aqueductal stenosis 2017-10-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -10236 Simple 137852428 A . Pathogenic 2 2 Hereditary factor VIII deficiency disease;not specified;not provided 2017-03-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -10251 Simple 28933673 T . Pathogenic/Likely pathogenic 2 2 Hereditary factor VIII deficiency disease 2016-03-18 5.1 2.5 Likely pathogenic 1 -10363 Simple 5030869 T . Pathogenic, other 2 2 G6PD CHATHAM;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2017-05-24 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -10367 Simple 137852314 T . Pathogenic, other 2 2 G6PD MAHIDOL;Anemia, nonspherocytic hemolytic, due to G6PD deficiency;not specified 2017-05-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -10372 Simple 137852318 G . Pathogenic, other 2 3 G6PD SEATTLE-LIKE;G6PD MODENA;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2017-05-24 15.0 2.3333333333333335 Pathogenic 0 -10383 Simple 137852326 A . Pathogenic, other 2 2 G6PD GASTONIA;G6PD MARION;G6PD MINNESOTA;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2017-05-24 8.4 4.0 Pathogenic/Likely pathogenic 1 -10386 Simple 137852327 T . Pathogenic, other 2 3 Glucose 6 phosphate dehydrogenase deficiency;G6pd a-;G6PD VIANGCHAN;G6PD JAMMU;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2017-06-15 17.4 1.0 Pathogenic 0 -10393 Simple 137852331 C . Pathogenic/Likely pathogenic, other 2 3 Favism, susceptibility to;G6PD TAIWAN-HAKKA 2;Anemia, nonspherocytic hemolytic, due to G6PD deficiency;not specified 2016-12-01 12.6 2.3333333333333335 Pathogenic/Likely pathogenic 0 -10431 Simple 104894810 T . Pathogenic 2 2 X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X;not provided 2016-07-18 12.0 1.0 Pathogenic/Likely pathogenic 1 -10435 Simple 104894814 T . Pathogenic 2 4 X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X;not provided 2017-03-22 22.8 1.25 Pathogenic 0 -10437 Simple 104894818 G . Pathogenic/Likely pathogenic 2 2 X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X;not provided 2017-02-23 9.0 1.0 Pathogenic/Likely pathogenic 0 -10441 Simple 104894821 A . Pathogenic 2 2 X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X;not provided 2017-07-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -10466 Simple 104886303 G . Pathogenic 2 2 Alport syndrome, X-linked recessive;not provided 2017-06-09 11.4 1.0 Pathogenic/Likely pathogenic 1 -10487 Simple 104894853 A . Pathogenic 2 2 Mucopolysaccharidosis, MPS-II 2013-08-29 7.2 5.5 Likely pathogenic 2 -10491 Simple 113993948 A . Pathogenic 2 2 Mucopolysaccharidosis, MPS-II 2016-11-28 9.0 5.5 Pathogenic/Likely pathogenic 1 -10497 Simple 199422231 A . Pathogenic 2 2 Mucopolysaccharidosis, MPS-II;Mucopolysaccharidosis, type II, mild form 2014-07-28 9.6 3.0 Pathogenic/Likely pathogenic 1 -10498 Simple 113993946 T . Pathogenic 2 2 Mucopolysaccharidosis, MPS-II;Mucopolysaccharidosis, type II, severe form 2013-09-25 7.2 7.0 Likely pathogenic 2 -10588 Simple 6048 G . Benign, protective 2 3 Deep venous thrombosis, protection against;not specified;Hemophilia B, Factor IX Deficiency 2016-08-15 -17.4 1.3333333333333333 Benign/Likely benign 1 -10600 Simple 1800455 C . Benign/Likely benign 2 2 Hereditary factor IX deficiency disease;Thrombophilia, X-linked, due to factor IX defect;FACTOR IX, DNA POLYMORPHISM;Hemophilia B, Factor IX Deficiency 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -10715 Simple 104894828 T . Pathogenic 2 3 Fabry disease;Fabry disease, cardiac variant;Cardiovascular phenotype 2016-11-28 15.600000000000001 2.3333333333333335 Pathogenic 0 -10730 Simple 28935197 C . Pathogenic 2 5 Fabry disease;not provided 2017-05-18 28.2 1.4 Pathogenic 0 -10732 Simple 104894840 T . Pathogenic 2 2 Fabry disease;not provided 2016-12-13 11.4 1.5 Pathogenic/Likely pathogenic 1 -10733 Simple 104894841 A . Pathogenic 2 2 Fabry disease;not provided 2017-10-24 11.4 1.0 Pathogenic/Likely pathogenic 1 -10743 Simple 104894843 A . Pathogenic 2 2 Fabry disease 2016-06-07 11.4 1.5 Pathogenic/Likely pathogenic 1 -10769 Simple 104894845 G . Pathogenic/Likely pathogenic 2 3 Fabry disease;not provided 2016-04-23 12.3 3.0 Pathogenic/Likely pathogenic 0 -10775 Simple 121918363 G . Uncertain significance 2 3 Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked;not specified 2015-11-05 -0.75 2.6666666666666665 Uncertain significance 0 -10822 Simple 137853271 T . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2016-02-03 10.8 2.0 Pathogenic/Likely pathogenic 1 -10980 Simple 606231194 - . Pathogenic 2 2 Renpenning syndrome 1;Hyperactivity;not provided;Delayed speech and language development;Microcephaly 2017-11-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -10994 Simple 1800321 G . Benign/Likely benign 2 4 Ornithine carbamoyltransferase deficiency;ORNITHINE TRANSCARBAMYLASE POLYMORPHISM;not specified 2017-02-01 -21.6 2.0 Benign/Likely benign 0 -11014 Simple 72554308 A . Pathogenic 2 2 Ornithine carbamoyltransferase deficiency;not provided 2016-10-25 12.0 1.0 Pathogenic/Likely pathogenic 1 -11035 Simple 132630312 T . Pathogenic 2 3 Hypohidrotic X-linked ectodermal dysplasia;not provided;Hypohidrotic ectodermal dysplasia 2017-07-14 17.4 0.6666666666666666 Pathogenic 0 -11036 Simple 132630313 T . Pathogenic 2 2 Hypohidrotic X-linked ectodermal dysplasia;not provided 2017-05-23 12.0 0.5 Pathogenic/Likely pathogenic 1 -11037 Simple 132630314 A . Pathogenic 2 3 Hypohidrotic X-linked ectodermal dysplasia;not provided;Hypohidrotic ectodermal dysplasia 2017-09-05 15.0 2.0 Pathogenic 0 -11058 Simple 397518445 G . Pathogenic 2 3 Severe X-linked myotubular myopathy;not provided 2017-12-13 15.6 1.6666666666666667 Pathogenic 0 -11059 Simple 132630305 T . Pathogenic 2 3 Severe X-linked myotubular myopathy 2017-05-26 15.0 2.3333333333333335 Pathogenic 0 -11154 Simple 132630266 A . Pathogenic 2 2 Choroideremia;not provided 2017-12-12 10.2 2.0 Pathogenic/Likely pathogenic 1 -11176 Simple 132630262 T . Pathogenic 2 2 Emery-Dreifuss muscular dystrophy, X-linked;not provided 2016-07-25 10.2 2.5 Pathogenic/Likely pathogenic 1 -11186 Simple 387906492 . . Pathogenic 2 4 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;Lissencephaly 2, X-linked;not provided 2017-07-07 22.8 1.0 Pathogenic 0 -11213 Simple 104894787 A . Pathogenic 2 5 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2016-10-25 29.4 1.2 Pathogenic 0 -11225 Simple 128626235 A . Pathogenic 2 5 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-02-16 28.2 1.6 Pathogenic 0 -11260 Simple 128626250 A . Pathogenic 2 2 Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2016-09-20 10.8 2.0 Pathogenic/Likely pathogenic 1 -11261 Simple 128626251 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2016-03-04 16.2 4.25 Pathogenic 0 -11273 Simple 104894790 A . Pathogenic 2 2 Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-01-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -11282 Simple 104894797 A . Pathogenic 2 5 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-11-08 26.400000000000002 2.0 Pathogenic 0 -11283 Simple 5030730 A . Pathogenic 2 2 Becker muscular dystrophy;Duchenne muscular dystrophy;not provided 2014-03-25 8.4 4.0 Pathogenic/Likely pathogenic 1 -11288 Simple 128627256 A . Pathogenic 2 6 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-05-18 28.2 3.0 Pathogenic 0 -11301 Simple 128624220 T . Pathogenic/Likely pathogenic 2 2 Adrenoleukodystrophy;not provided 2017-05-15 7.8 1.5 Likely pathogenic 1 -11303 Simple 387906494 - . Pathogenic 2 5 Adrenoleukodystrophy;not provided 2017-07-31 27.0 1.6 Pathogenic 0 -11310 Simple 128624225 T . Pathogenic 2 3 Adrenoleukodystrophy;Addison's disease;not provided 2017-07-24 16.8 1.3333333333333333 Pathogenic 0 -11404 Simple 122468178 A . Pathogenic 2 2 IFAP syndrome with or without BRESHECK syndrome;not provided 2017-01-24 9.6 3.0 Pathogenic/Likely pathogenic 1 -11598 Simple 104894780 A . Pathogenic 2 2 Lissencephaly, X-linked;Subcortical laminar heterotopia, X-linked;Heterotopia;not provided 2016-12-22 9.6 3.0 Pathogenic/Likely pathogenic 1 -11624 Simple 121434610 A . Pathogenic/Likely pathogenic 2 2 Snyder Robinson syndrome;not provided;Inborn genetic diseases 2015-11-30 6.9 3.0 Likely pathogenic 1 -11694 Simple 122453121 A . Pathogenic 2 2 Simpson-Golabi-Behmel syndrome 2016-04-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -11698 Simple 80338740 - . Pathogenic 2 2 Creatine deficiency, X-linked;not provided 2017-08-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -11735 Simple 122445105 A . Pathogenic 2 3 not provided;Inborn genetic diseases 2017-09-07 14.4 2.6666666666666665 Pathogenic/Likely pathogenic 1 -11759 Simple 28935473 A . Pathogenic 2 2 Melnick-Needles syndrome;Oto-palato-digital syndrome, type II 2016-12-23 9.0 5.0 Pathogenic/Likely pathogenic 1 -11761 Simple 137853312 A . Pathogenic/Likely pathogenic 2 2 Frontometaphyseal dysplasia;not provided 2015-11-01 5.7 5.0 Likely pathogenic 1 -11793 Simple 151340633 T . Pathogenic 2 2 Menkes kinky-hair syndrome 2016-02-05 9.0 3.5 Pathogenic/Likely pathogenic 1 -11811 Simple 28934906 A . Pathogenic/Likely pathogenic 2 12 Angelman syndrome;Severe neonatal-onset encephalopathy with microcephaly;Mental retardation, X-linked, syndromic 13;Rett syndrome;Autism, susceptibility to, X-linked 3;not specified;not provided 2017-06-14 60.300000000000004 2.0833333333333335 Pathogenic 1 -11814 Simple 28934907 A . Pathogenic/Likely pathogenic 2 5 Severe neonatal-onset encephalopathy with microcephaly;Rett syndrome;not provided 2017-05-27 23.7 1.8 Pathogenic 1 -11815 Simple 61750240 A . Pathogenic 2 9 Severe neonatal-onset encephalopathy with microcephaly;MECP2 duplication syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;Autism, susceptibility to, X-linked 3;not provided;Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome 2017-10-18 46.8 2.0 Pathogenic 0 -11819 Simple 61751362 A . Pathogenic/Likely pathogenic, risk factor 2 10 Angelman syndrome;Severe neonatal-onset encephalopathy with microcephaly;MECP2 duplication syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;Autism, susceptibility to, X-linked 3;not provided 2017-05-18 46.8 2.7 Pathogenic 1 -11823 Simple 28934908 A . Pathogenic/Likely pathogenic 2 6 Severe neonatal-onset encephalopathy with microcephaly;Mental retardation, X-linked, syndromic 13;Rett syndrome;Motor delay;Micrognathia;Hearing impairment;not provided;Downslanted palpebral fissures;Microcephaly;Stenosis of the external auditory canal;Intellectual disability;Postnatal growth retardation 2017-07-19 25.5 2.3333333333333335 Pathogenic 1 -11824 Simple 28935468 A . Pathogenic 2 8 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not provided;Intellectual disability 2017-08-24 40.8 2.25 Pathogenic 0 -11828 Simple 61748421 A . Pathogenic 2 10 Severe neonatal-onset encephalopathy with microcephaly;Mental retardation, X-linked, syndromic 13;Rett syndrome;not provided;Intellectual disability 2017-07-31 53.4 2.0 Pathogenic 0 -11829 Simple 61749721 A . Pathogenic/Likely pathogenic 2 12 Severe neonatal-onset encephalopathy with microcephaly;MECP2 duplication syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;Autism, susceptibility to, X-linked 3;not specified;not provided 2017-07-28 64.2 1.3333333333333333 Pathogenic 1 -11846 Simple 61749743 - . Pathogenic 2 2 Rett syndrome;not specified 2017-03-24 11.4 1.0 Pathogenic/Likely pathogenic 1 -11868 Simple 11555096 T . Pathogenic, other 2 0 Fumarylacetoacetase pseudodeficiency;Tyrosinemia type I;not provided 2016-09-14 . . . 0 -11870 Simple 80338901 A . Pathogenic 2 4 Tyrosinemia type I;not provided;Hypertyrosinemia 2017-06-16 22.2 1.5 Pathogenic 0 -11871 Simple 121965075 T . Pathogenic/Likely pathogenic 2 2 Tyrosinemia type I 2017-03-16 8.7 1.0 Pathogenic/Likely pathogenic 0 -11874 Simple 80338895 T . Pathogenic 2 5 Tyrosinemia type I;not provided;Hypertyrosinemia 2017-06-29 28.2 1.4 Pathogenic 0 -11876 Simple 111033565 A . Pathogenic 2 4 Hereditary pancreatitis;not specified;not provided 2017-07-11 21.0 1.5 Pathogenic 0 -11877 Simple 111033566 T . Pathogenic 2 4 Hereditary pancreatitis;not specified 2017-04-16 21.0 2.0 Pathogenic 0 -11883 Simple 111033568 T . Pathogenic 2 2 Hereditary pancreatitis;not specified 2017-03-29 12.0 0.5 Pathogenic/Likely pathogenic 1 -11891 Simple 121965063 T . Pathogenic 2 3 Hereditary factor XI deficiency disease;not provided 2016-09-13 17.4 1.3333333333333333 Pathogenic 0 -11892 Simple 121965064 C . Pathogenic 2 2 Hereditary factor XI deficiency disease 2016-06-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -11908 Simple 121965019 A . Pathogenic 2 6 Mucopolysaccharidosis, MPS-I-S;Hurler syndrome;Mucopolysaccharidosis, MPS-I-H/S;Mucopolysaccharidosis type I;not provided 2017-07-14 34.8 1.1666666666666667 Pathogenic 0 -11909 Simple 121965020 T . Pathogenic 2 4 Mucopolysaccharidosis, MPS-I-S;Hurler syndrome;Mucopolysaccharidosis, MPS-I-H/S;Mucopolysaccharidosis type I 2016-06-14 21.0 2.25 Pathogenic 0 -11929 Simple 28934897 A . Pathogenic 2 8 Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever;not specified;not provided 2017-10-24 47.4 0.75 Pathogenic 0 -11932 Simple 104895304 C . Pathogenic 2 4 Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever;not specified;not provided 2017-11-15 22.8 1.0 Pathogenic 0 -11937 Simple 79761867 C . Pathogenic/Likely pathogenic 2 5 Maple syrup urine disease;MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB;not provided 2017-10-17 20.1 2.2 Pathogenic 1 -11966 Simple 121964990 T . Pathogenic 2 4 Maple syrup urine disease, type 3;not provided;DLD-Related Disorders 2017-02-28 23.4 1.25 Pathogenic 0 -11971 Simple 121964992 A . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease, type 3;not provided 2017-03-30 8.7 1.0 Pathogenic/Likely pathogenic 0 -11985 Simple 121964976 G . Pathogenic 2 2 Non-ketotic hyperglycinemia;Obesity;Generalized epilepsy;Global developmental delay 2017-08-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -11989 Simple 121964979 A . Pathogenic/Likely pathogenic 2 3 Non-ketotic hyperglycinemia;not provided 2017-06-05 15.0 0.6666666666666666 Pathogenic 1 -11997 Simple 80356488 TATA . Pathogenic/Likely pathogenic 2 4 Glycogen storage disease, type I;Glycogen storage disease type 1A;not provided 2016-10-24 19.5 1.75 Pathogenic 1 -11998 Simple 1801175 T . Pathogenic 2 6 Glycogen storage disease, type I;Glycogen storage disease type 1A;not provided 2017-10-06 33.6 1.3333333333333333 Pathogenic 0 -11999 Simple 104894563 T . Pathogenic/Likely pathogenic 2 3 Glycogen storage disease, type I;Glycogen storage disease type 1A 2016-06-14 10.8 2.0 Pathogenic/Likely pathogenic 0 -12000 Simple 80356487 T . Pathogenic 2 3 Glycogen storage disease type 1A;not provided 2017-07-03 16.8 1.3333333333333333 Pathogenic 0 -12003 Simple 80356484 T . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease type 1A 2016-08-25 7.8 2.0 Likely pathogenic 1 -12028 Simple 121964954 A . Pathogenic 2 2 Glutaric aciduria, type 2;Glutaric acidemia IIC;not provided 2017-05-02 11.4 1.0 Pathogenic/Likely pathogenic 1 -12044 Simple 121917783 A . Pathogenic 2 3 Fanconi anemia;Fanconi anemia, complementation group C;not provided;Hereditary cancer-predisposing syndrome 2017-07-11 18.0 0.3333333333333333 Pathogenic 0 -12045 Simple 104886456 A . Pathogenic 2 6 Fanconi anemia;Fanconi anemia, complementation group C;not provided;Hereditary cancer-predisposing syndrome 2017-10-31 33.6 1.1666666666666667 Pathogenic 0 -12046 Simple 121917784 A . Pathogenic/Likely pathogenic 2 3 Fanconi anemia;Fanconi anemia, complementation group C;not provided 2016-09-22 14.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -12047 Simple 104886457 A . Pathogenic/Likely pathogenic 2 5 Fanconi anemia;Tracheoesophageal fistula;Fanconi anemia, complementation group C;not provided;Hereditary cancer-predisposing syndrome 2017-11-06 26.7 0.4 Pathogenic 1 -12049 Simple 104886459 - . Pathogenic 2 4 Fanconi anemia;Fanconi anemia, complementation group C;not provided 2017-10-23 22.2 1.25 Pathogenic 0 -12080 Simple 6046 A . Benign, risk factor 2 2 Factor X deficiency;Factor VII deficiency;Myocardial infarction, decreased susceptibility to;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -12137 Simple 541208710 C . Pathogenic 2 2 Carnitine acylcarnitine translocase deficiency;not provided 2017-08-16 11.4 1.0 Pathogenic/Likely pathogenic 1 -12143 Simple 113624356 G . Pathogenic/Likely pathogenic 2 8 Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;Retinitis pigmentosa;not provided;Retinal dystrophy;Retinal dystrophy 2017-10-10 46.2 1.0 Pathogenic 1 -12151 Simple 6471 T . Pathogenic 2 5 Adenoma, cortisol-producing;Carcinoma, adrenocortical, androgen-secreting;21-hydroxylase deficiency;Inborn genetic diseases 2017-10-26 28.2 1.2 Pathogenic 0 -12154 Simple 6472 C . Benign 2 2 Congenital adrenal hyperplasia;21-hydroxylase deficiency;not specified;21-HYDROXYLASE POLYMORPHISM 2017-04-13 -12.0 0.5 Benign/Likely benign 1 -12155 Simple 6467 G . Pathogenic 2 3 21-hydroxylase deficiency 2017-10-26 16.2 1.6666666666666667 Pathogenic 0 -12159 Simple 6445 T . Pathogenic 2 2 21-hydroxylase deficiency 2016-07-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -12169 Simple 7755898 T . Pathogenic 2 2 21-hydroxylase deficiency 2015-09-03 10.2 2.5 Pathogenic/Likely pathogenic 1 -12241 Simple 121964877 T . Pathogenic 2 4 Hereditary diffuse gastric cancer;not provided;Hereditary cancer-predisposing syndrome 2017-05-15 24.0 0.75 Pathogenic 0 -12280 Simple 4148323 A . drug response 3 3 Bilirubin, serum level of, quantitative trait locus 1;Lucey-Driscoll syndrome;Gilbert's syndrome;not specified;SN-38 response - Other;irinotecan response - Other . -2.4 1.6666666666666667 . 0 -12347 Simple 121912651 A . Pathogenic/Likely pathogenic 2 5 Liver cancer;Chronic lymphocytic leukemia;Medulloblastoma;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Li-Fraumeni syndrome 1;Small cell lung cancer;Adenocarcinoma of lung;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Acute myeloid leukemia;Myelodysplastic syndrome;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Neoplasm;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-09-27 26.1 1.0 Pathogenic 1 -12348 Simple 121912652 T . Conflicting interpretations of pathogenicity 1 2 Li-Fraumeni syndrome 1;not specified;not provided 2016-09-23 12.0 1.0 Pathogenic/Likely pathogenic 3 -12349 Simple 28934575 A . Pathogenic/Likely pathogenic 2 2 Liver cancer;Squamous cell carcinoma of the head and neck;Li-Fraumeni syndrome 1;Adenocarcinoma of lung;Squamous cell carcinoma of lung;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2016-05-31 10.2 2.5 Pathogenic/Likely pathogenic 0 -12351 Simple 1042522 C . drug response 3 7 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;CODON 72 POLYMORPHISM, (rs1042522);not specified;not provided;Hereditary cancer-predisposing syndrome;antineoplastic agents response - Efficacy, Toxicity/ADR;cisplatin response - Efficacy, Toxicity/ADR;cyclophosphamide response - Efficacy, Toxicity/ADR;fluorouracil response - Efficacy, Toxicity/ADR;paclitaxel response - Efficacy, Toxicity/ADR . -39.6 1.1428571428571428 . 0 -12354 Simple 121912655 T . Pathogenic/Likely pathogenic 2 2 Liver cancer;Chronic lymphocytic leukemia;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Li-Fraumeni-like syndrome;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Adenocarcinoma of stomach;Uterine Carcinosarcoma 2017-07-06 10.8 1.5 Pathogenic/Likely pathogenic 0 -12355 Simple 121912656 T . Pathogenic/Likely pathogenic 2 2 Liver cancer;Squamous cell carcinoma of the head and neck;Li-Fraumeni syndrome 1;Adenocarcinoma of lung;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-05-11 12.0 0.5 Pathogenic/Likely pathogenic 0 -12356 Simple 11540652 T . Pathogenic/Likely pathogenic 2 6 Liver cancer;Chronic lymphocytic leukemia;Li-Fraumeni syndrome 2;Medulloblastoma;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Li-Fraumeni syndrome 1;Small cell lung cancer;Adenocarcinoma of lung;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Acute myeloid leukemia;Myelodysplastic syndrome;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Sarcoma;Neoplasm;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-07-17 30.9 1.1666666666666667 Pathogenic 1 -12359 Simple 28934573 A . Pathogenic/Likely pathogenic 2 2 Malignant lymphoma, non-Hodgkin;Malignant melanoma of skin;Osteosarcoma;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Hepatoblastoma;Kidney cancer;Li-Fraumeni syndrome;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Papillary renal cell carcinoma, sporadic;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma;Carcinoma of gallbladder 2017-05-26 6.0 0.0 Likely pathogenic 1 -12365 Simple 28934575 T . Pathogenic/Likely pathogenic 2 6 Liver cancer;Squamous cell carcinoma of the head and neck;Li-Fraumeni syndrome 1;Adenocarcinoma of lung;Li-Fraumeni-like syndrome;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Brainstem glioma;Adenocarcinoma;Carcinoma of esophagus;Neoplasm;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-10-02 34.2 1.1666666666666667 Pathogenic 1 -12366 Simple 28934576 T . Pathogenic/Likely pathogenic 2 7 Adrenocortical carcinoma, hereditary;Familial cancer of breast;Glioma susceptibility 1;Liver cancer;Chronic lymphocytic leukemia;Medulloblastoma;Malignant melanoma of skin;Multiple myeloma;Osteosarcoma;Squamous cell carcinoma of the head and neck;Li-Fraumeni syndrome 1;Nasopharyngeal carcinoma;Carcinoma of pancreas;Choroid plexus papilloma;Small cell lung cancer;Adenocarcinoma of lung;Thyroid cancer, anaplastic;Carcinoma of colon;Li-Fraumeni syndrome;Thyroid carcinoma, anaplastic, somatic;Squamous cell carcinoma of lung;Acute myeloid leukemia;not specified;Basal cell carcinoma, susceptibility to, 7;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Neoplasm;Colorectal Neoplasms;Adrenocortical carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-07-14 39.0 0.2857142857142857 Pathogenic 1 -12369 Simple 28934874 T . Pathogenic/Likely pathogenic 2 2 Liver cancer;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Breast cancer, somatic;Squamous cell carcinoma of lung;not provided;Neoplasm of brain;Neoplasm of the breast;Hepatocellular carcinoma;Breast adenocarcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Adenoid cystic carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma 2017-08-02 5.7 1.0 Likely pathogenic 1 -12370 Simple 28934874 A . Pathogenic/Likely pathogenic 2 2 Liver cancer;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Breast cancer, somatic;Squamous cell carcinoma of lung;not provided;Neoplasm of brain;Neoplasm of the breast;Hepatocellular carcinoma;Breast adenocarcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Adenoid cystic carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma 2017-09-13 6.6 2.5 Likely pathogenic 1 -12374 Simple 28934578 T . Pathogenic/Likely pathogenic 2 4 Malignant tumor of esophagus;Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Neoplasm 2017-08-24 24.0 0.25 Pathogenic 1 -12379 Simple 121912664 T . Pathogenic 2 5 Li-Fraumeni syndrome 1;Adrenocortical carcinoma, pediatric;Li-Fraumeni syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-31 29.4 0.8 Pathogenic 0 -12393 Simple 45483392 T . Pathogenic 2 2 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-01-18 12.0 1.0 Pathogenic/Likely pathogenic 1 -12397 Simple 28934872 A . Pathogenic 2 5 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-16 27.0 1.8 Pathogenic 0 -12402 Simple 137854218 . . Pathogenic 2 5 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-04 28.8 1.0 Pathogenic 0 -12403 Simple 45517259 A . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-11 18.0 0.6666666666666666 Pathogenic 0 -12404 Simple 45517258 T . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-02-16 16.2 2.0 Pathogenic 0 -12408 Simple 121964855 T . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;Primary familial hypertrophic cardiomyopathy;not provided;Cardiovascular phenotype 2017-08-22 24.900000000000002 1.6 Pathogenic 1 -12409 Simple 121964856 T . Pathogenic/Likely pathogenic 2 4 Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided 2017-06-19 21.0 0.75 Pathogenic 1 -12414 Simple 74315379 A . Pathogenic/Likely pathogenic 2 5 Primary dilated cardiomyopathy;Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;not provided 2017-05-30 25.2 1.4 Pathogenic 1 -12419 Simple 104894724 C . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;Familial hypertrophic cardiomyopathy 7;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-05-09 16.8 1.3333333333333333 Pathogenic 0 -12421 Simple 77615401 A . Benign/Likely benign, risk factor 2 12 Familial hypertrophic cardiomyopathy 7;Cardiomyopathy;Familial restrictive cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2017-08-11 -45.3 2.25 Benign 1 -12424 Simple 104894729 T . Pathogenic/Likely pathogenic 2 2 Familial restrictive cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;not provided 2017-08-21 10.2 2.0 Pathogenic/Likely pathogenic 0 -12426 Simple 104894724 A . Pathogenic/Likely pathogenic 2 5 Familial restrictive cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-11 24.3 2.0 Pathogenic 1 -12435 Simple 104894311 A . Pathogenic 2 2 Distal arthrogryposis type 2B;not provided 2016-02-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -12436 Simple 104894312 T . Pathogenic 2 2 Distal arthrogryposis type 2B;Distal arthrogryposis;not provided;Calcaneovalgus deformity;Ulnar deviation of the wrist;Distal arthrogryposis;Congenital finger flexion contractures 2015-11-25 10.2 2.5 Pathogenic/Likely pathogenic 1 -12453 Simple 121964854 C . Pathogenic/Likely pathogenic 2 2 Nemaline myopathy 1;Congenital myopathy with fiber type disproportion;not provided 2017-04-27 8.7 1.0 Pathogenic/Likely pathogenic 0 -12454 Simple 121964854 A . Pathogenic 2 2 Congenital myopathy with fiber type disproportion;not provided;Cap myopathy 1 2017-04-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -12456 Simple 104894503 A . Pathogenic 2 4 Familial hypertrophic cardiomyopathy 3;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-08-25 22.8 1.25 Pathogenic 0 -12457 Simple 104894504 C . Pathogenic 2 2 Familial hypertrophic cardiomyopathy 3;Primary familial hypertrophic cardiomyopathy;not provided 2014-10-06 8.4 4.0 Pathogenic/Likely pathogenic 1 -12462 Simple 104894129 T . Pathogenic 2 3 Arthrogryposis multiplex congenita distal type 1;Nemaline myopathy 4;not provided 2017-02-28 17.4 1.3333333333333333 Pathogenic 0 -12465 Simple 199476153 - . Pathogenic 2 2 Arthrogryposis multiplex congenita distal type 1;Nemaline myopathy 4;not provided;Cap myopathy 2 2017-02-07 12.0 1.0 Pathogenic/Likely pathogenic 1 -12507 Simple 104893809 T . Pathogenic 2 2 Loeys-Dietz syndrome 2;Thoracic aortic aneurysm and aortic dissection;not provided 2017-05-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -12511 Simple 104893815 A . Pathogenic 2 2 Loeys-Dietz syndrome 2;Hereditary nonpolyposis colorectal cancer type 6;Loeys-Dietz syndrome;not provided 2017-02-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -12514 Simple 104893811 T . Pathogenic 2 2 Loeys-Dietz syndrome 2;Thoracic aortic aneurysm and aortic dissection;not provided 2013-08-06 7.800000000000001 4.5 Likely pathogenic 2 -12519 Simple 104893819 T . Pathogenic/Likely pathogenic 2 3 Loeys-Dietz syndrome 2;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2017-05-27 16.8 1.3333333333333333 Pathogenic 1 -12524 Simple 111854391 T . Pathogenic/Likely pathogenic 2 3 Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2017-09-01 14.7 1.0 Pathogenic/Likely pathogenic 0 -12525 Simple 113605875 A . Pathogenic 2 3 Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2017-07-13 16.8 1.3333333333333333 Pathogenic 0 -12526 Simple 111426349 T . Pathogenic 2 4 Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2016-09-30 21.6 2.0 Pathogenic 0 -12582 Simple 121913529 T . Pathogenic/Likely pathogenic 2 2 Lung cancer;Epidermal nevus syndrome;Juvenile myelomonocytic leukemia;Epidermal nevus;Neoplasm of ovary;Carcinoma of pancreas;Non-small cell lung cancer;RAS-associated autoimmune leukoproliferative disorder;Acute myeloid leukemia;Neoplasm of stomach;Nevus sebaceous;NEVUS SEBACEOUS, SOMATIC;not provided;Rasopathy;Ovarian Neoplasms;Colorectal Neoplasms;Neoplasm of the thyroid gland 2017-06-30 12.0 0.5 Pathogenic/Likely pathogenic 0 -12586 Simple 104894359 G . Pathogenic 3 3 not provided;Rasopathy;Cardiofaciocutaneous syndrome 2;Cardio-facio-cutaneous syndrome 2017-04-03 17.4 1.3333333333333333 Pathogenic 0 -12587 Simple 104894360 A . Pathogenic 3 6 Noonan syndrome 3;Noonan syndrome;not specified;not provided;Rasopathy;Cardiofaciocutaneous syndrome 2 2017-04-03 33.6 1.1666666666666667 Pathogenic 0 -12588 Simple 104894364 A . Pathogenic 3 3 Noonan syndrome 3;Noonan syndrome;not provided 2017-04-03 17.4 1.0 Pathogenic 0 -12589 Simple 104894365 T . Pathogenic 3 4 Endometrial carcinoma;Noonan syndrome 3;Noonan syndrome;not provided;Rasopathy 2017-04-03 24.0 0.75 Pathogenic 0 -12590 Simple 104894366 C . Pathogenic/Likely pathogenic 2 3 not provided;Rasopathy;Cardiofaciocutaneous syndrome 2 2016-09-22 14.100000000000001 1.6666666666666667 Pathogenic/Likely pathogenic 0 -12594 Simple 104894361 A . Pathogenic 3 2 Noonan syndrome;not specified;Cardiofaciocutaneous syndrome 2 2017-04-03 6.39 2.0 Likely pathogenic 2 -12600 Simple 104894230 A . Pathogenic/Likely pathogenic 2 3 Malignant tumor of urinary bladder;Costello syndrome;Epidermal nevus;Myopathy, congenital, with excess of muscle spindles;not provided;Malignant melanoma;Neoplasm of the thyroid gland 2017-04-27 13.8 3.3333333333333335 Pathogenic/Likely pathogenic 0 -12602 Simple 104894229 T . Pathogenic 3 9 Liver cancer;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Costello syndrome;Adenocarcinoma of lung;Myopathy, congenital, with excess of muscle spindles;Acute myeloid leukemia;Myelodysplastic syndrome;not specified;Epidermal nevus with urothelial cancer, somatic;Nevus sebaceous;NEVUS SEBACEOUS, SOMATIC;not provided;Rasopathy;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Nevus, woolly hair;Colorectal Neoplasms;Uterine cervical neoplasms;Neoplasm of the thyroid gland;Papillary renal cell carcinoma, sporadic;Adenoid cystic carcinoma;Nasopharyngeal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-04-03 50.4 1.4444444444444444 Pathogenic 0 -12603 Simple 104894230 G . Pathogenic/Likely pathogenic 2 2 Liver cancer;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Costello syndrome;Adenocarcinoma of lung;Acute myeloid leukemia;Myelodysplastic syndrome;not provided;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Uterine cervical neoplasms;Neoplasm of the thyroid gland;Papillary renal cell carcinoma, sporadic;Adenoid cystic carcinoma;Nasopharyngeal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-01-04 10.8 2.0 Pathogenic/Likely pathogenic 0 -12604 Simple 104894226 T . Pathogenic 2 2 Costello syndrome;not provided;Colorectal Neoplasms 2017-01-04 10.8 2.0 Pathogenic/Likely pathogenic 1 -12605 Simple 104894227 C . Pathogenic 3 3 Costello syndrome;not provided 2017-04-03 15.6 2.3333333333333335 Pathogenic 0 -12606 Simple 104894228 A . Pathogenic 3 5 Liver cancer;Chronic lymphocytic leukemia;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Costello syndrome;Adenocarcinoma of lung;Squamous cell carcinoma of lung;Acute myeloid leukemia;not provided;Rasopathy;Neoplasm of the breast;Hepatocellular carcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Neoplasm;Colorectal Neoplasms;Uterine cervical neoplasms;Neoplasm of the thyroid gland;Adenocarcinoma of stomach;Malignant neoplasm of body of uterus 2017-04-03 27.0 2.0 Pathogenic 0 -12610 Simple 121917758 A . Pathogenic 3 2 Costello syndrome 2017-04-03 11.399999999999999 1.5 Pathogenic/Likely pathogenic 1 -12612 Simple 104894230 T . Pathogenic/Likely pathogenic 2 2 Costello syndrome;Costello syndrome, severe;Nevus sebaceous;NEVUS SEBACEOUS, SOMATIC;not provided;Rasopathy;Neoplasm of the breast 2017-04-27 9.0 3.5 Pathogenic/Likely pathogenic 0 -12613 Simple 104894229 A . Pathogenic/Likely pathogenic 2 3 Liver cancer;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Costello syndrome;Epidermal nevus;Adenocarcinoma of lung;Acute myeloid leukemia;Myelodysplastic syndrome;Nevus sebaceous;NEVUS SEBACEOUS, SOMATIC;not provided;Rasopathy;Neoplasm of the breast;Glioblastoma;Bladder carcinoma;Hepatocellular carcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Uterine cervical neoplasms;Neoplasm of the thyroid gland;Papillary renal cell carcinoma, sporadic;Adenoid cystic carcinoma;Nasopharyngeal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-04-27 14.4 3.0 Pathogenic/Likely pathogenic 0 -12695 Simple 121912648 T . Pathogenic 2 3 Iodotyrosyl coupling defect;not provided;Thyroid dyshormonogenesis 2017-04-12 17.4 1.0 Pathogenic 0 -12696 Simple 2076740 T . Benign/Likely benign, risk factor 2 1 Autoimmune thyroid disease 3;not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -12697 Simple 180223 G . Benign/Likely benign, risk factor 2 1 Autoimmune thyroid disease 3;not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -12698 Simple 853326 G . Benign/Likely benign, risk factor 2 1 Autoimmune thyroid disease 3;not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -12710 Simple 137854431 A . Pathogenic 2 2 Mitochondrial DNA depletion syndrome 2;not provided 2017-06-02 11.4 1.0 Pathogenic/Likely pathogenic 1 -12770 Simple 782316919 - . Pathogenic 2 4 Leigh syndrome;Leigh syndrome due to mitochondrial complex IV deficiency;not provided;Charcot-Marie-Tooth disease, type 4k;Leigh syndrome due to COX IV deficiency 2017-11-03 24.0 0.75 Pathogenic 0 -12778 Simple 74315366 A . Pathogenic 2 6 Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary Paragangliomas and Pheochromocytomas;Hereditary cancer-predisposing syndrome 2017-07-14 28.8 2.8333333333333335 Pathogenic 0 -12779 Simple 74315367 C . Pathogenic/Likely pathogenic 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2016-11-29 6.0 1.0 Likely pathogenic 1 -12781 Simple 74315368 T . Pathogenic 2 3 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-09-18 18.0 0.3333333333333333 Pathogenic 0 -12782 Simple 587781266 - . Pathogenic 2 2 Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-04-27 12.0 0.0 Pathogenic/Likely pathogenic 1 -12783 Simple 74315369 A . Pathogenic 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-07-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -12856 Simple 121918641 T . Pathogenic 2 2 Elliptocytosis 2;Hereditary pyropoikilocytosis;not specified;not provided 2017-05-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -12869 Simple 137852812 T . Pathogenic 2 4 Gingival fibromatosis 1;Noonan syndrome 4;Noonan syndrome;not provided;Rasopathy 2017-05-18 21.6 1.5 Pathogenic 0 -12870 Simple 137852813 C . Pathogenic 2 3 Noonan syndrome 4;Noonan syndrome;not provided;Rasopathy 2017-05-22 16.2 1.6666666666666667 Pathogenic 0 -12871 Simple 137852814 C . Pathogenic 3 8 Gingival fibromatosis 1;Noonan syndrome 4;Noonan syndrome;not provided;Rasopathy 2017-04-03 48.0 0.5 Pathogenic 0 -12872 Simple 267607079 G . Pathogenic 2 2 Noonan syndrome 4;Noonan syndrome;not provided 2017-10-25 10.2 2.0 Pathogenic/Likely pathogenic 1 -12873 Simple 267607080 G . Pathogenic 2 2 Noonan syndrome 4;Noonan syndrome;not provided 2014-06-30 9.0 3.5 Pathogenic/Likely pathogenic 1 -12889 Simple 121918624 A . Pathogenic 2 4 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided 2016-05-03 22.2 1.75 Pathogenic 0 -12897 Simple 3812718 T . drug response 3 0 Febrile seizures, familial, 3a;carbamazepine response - Dosage;phenytoin response - Dosage;antiepileptics response - Efficacy;carbamazepine response - Efficacy . . . . 0 -12954 Simple 121918597 T . Pathogenic 2 2 Catecholaminergic polymorphic ventricular tachycardia type 1;not provided;Catecholaminergic polymorphic ventricular tachycardia 2017-01-10 12.0 1.0 Pathogenic/Likely pathogenic 1 -12957 Simple 121918600 T . Pathogenic/Likely pathogenic 2 2 Catecholaminergic polymorphic ventricular tachycardia type 1;not provided;Catecholaminergic polymorphic ventricular tachycardia 2017-04-27 9.0 0.5 Pathogenic/Likely pathogenic 0 -12964 Simple 118192172 T . Pathogenic, risk factor 2 3 Malignant hyperthermia, susceptibility to, 1;not provided;RYR1-Related Disorders 2017-08-08 16.2 1.3333333333333333 Pathogenic 0 -12970 Simple 121918593 A . Pathogenic, risk factor 2 2 Malignant hyperthermia, susceptibility to, 1;not provided;RYR1-Related Disorders 2016-12-29 12.0 1.0 Pathogenic/Likely pathogenic 1 -12975 Simple 118192170 C . Pathogenic, risk factor 2 2 Central core disease;Malignant hyperthermia, susceptibility to, 1;not provided;RYR1-Related Disorders 2017-10-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -12976 Simple 118192176 A . Pathogenic, risk factor 2 2 Malignant hyperthermia, susceptibility to, 1;Minicore myopathy with external ophthalmoplegia;not provided;RYR1-Related Disorders 2017-11-15 12.0 0.0 Pathogenic/Likely pathogenic 1 -12977 Simple 118192177 T . Pathogenic/Likely pathogenic, risk factor 2 2 Malignant hyperthermia, susceptibility to, 1;Ptosis;not provided;Sacral agenesis;History of neonatal hypotonia 2017-05-04 11.4 1.0 Pathogenic/Likely pathogenic 0 -12982 Simple 63749869 A . Pathogenic 2 3 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;not provided;RYR1-Related Disorders 2017-06-02 18.0 0.0 Pathogenic 0 -13071 Simple 3092891 T . Pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-07-07 12.0 0.0 Pathogenic/Likely pathogenic 1 -13073 Simple 137853293 T . Pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-03-07 10.2 2.0 Pathogenic/Likely pathogenic 1 -13076 Simple 121913301 T . Pathogenic/Likely pathogenic 2 3 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-05-08 17.4 1.0 Pathogenic 1 -13087 Simple 137853294 T . Pathogenic/Likely pathogenic 2 3 Retinoblastoma;Hereditary cancer-predisposing syndrome;Vulvar adenocarcinoma of mammary gland type 2017-07-06 16.2 1.6666666666666667 Pathogenic 1 -13090 Simple 121913304 T . Pathogenic/Likely pathogenic 2 2 Retinoblastoma;Retinoblastoma, trilateral;Hereditary cancer-predisposing syndrome;Neoplasm 2016-05-13 12.0 1.0 Pathogenic/Likely pathogenic 0 -13093 Simple 587776789 T . Pathogenic 2 3 Retinoblastoma;not provided;Hereditary cancer-predisposing syndrome;Retinoblastoma 2017-08-04 16.8 1.3333333333333333 Pathogenic 0 -13115 Simple 61752871 A . Pathogenic 2 2 Leber congenital amaurosis 2;Retinitis pigmentosa 20;not provided 2017-04-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -13215 Simple 1799807 C . Pathogenic/Likely pathogenic 2 2 Deficiency of butyrylcholine esterase;Postanesthetic apnea;BCHE, dibucaine-resistant i 2016-06-14 8.7 1.5 Pathogenic/Likely pathogenic 0 -13263 Simple 121918487 T . Pathogenic/Likely pathogenic 2 2 Pfeiffer syndrome;Crouzon syndrome;FGFR2 related craniosynostosis 2017-07-25 12.0 0.5 Pathogenic/Likely pathogenic 0 -13266 Simple 121918488 G . Pathogenic 2 2 Jackson-Weiss syndrome;Pfeiffer syndrome;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Crouzon syndrome;FGFR2 related craniosynostosis 2017-01-25 12.0 1.0 Pathogenic/Likely pathogenic 1 -13267 Simple 121918488 T . Pathogenic 2 2 Jackson-Weiss syndrome;Pfeiffer syndrome;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Crouzon syndrome;not provided 2017-04-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -13268 Simple 121918491 T . Pathogenic 2 2 Crouzon syndrome;Craniosynostosis, nonclassifiable autosomal dominant;Scaphocephaly and axenfeld-rieger anomaly;Craniosynostosis 2016-09-17 10.8 2.0 Pathogenic/Likely pathogenic 1 -13272 Simple 79184941 C . Pathogenic/Likely pathogenic 2 4 Acrocephalosyndactyly type I;Endometrial carcinoma;not provided;Endometrial neoplasm;FGFR2 related craniosynostosis;Acrocephalosyndactyly;Adenocarcinoma of stomach;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma;Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 2017-09-15 23.4 0.75 Pathogenic 1 -13273 Simple 77543610 C . Pathogenic/Likely pathogenic 2 3 Acrocephalosyndactyly type I;not provided;FGFR2 related craniosynostosis;Head and Neck Neoplasms 2017-08-16 18.0 0.3333333333333333 Pathogenic 1 -13277 Simple 121913478 C . Pathogenic/Likely pathogenic 2 4 Endometrial carcinoma;Cutis Gyrata syndrome of Beare and Stevenson;not provided;Endometrial neoplasm;FGFR2 related craniosynostosis 2017-07-06 22.8 1.25 Pathogenic 1 -13283 Simple 121918501 G . Pathogenic 2 2 Crouzon syndrome;FGFR2 related craniosynostosis 2016-09-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -13286 Simple 121918502 C . Pathogenic 2 3 Pfeiffer syndrome;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Pfeiffer syndrome, type III;not provided;FGFR2 related craniosynostosis 2016-09-17 18.0 1.0 Pathogenic 0 -13290 Simple 121918505 G . Pathogenic 2 2 Pfeiffer syndrome;Crouzon syndrome;Neoplasm of stomach;not provided 2016-09-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -13310 Simple 1799963 A . Pathogenic, risk factor 2 2 Thrombophilia;Ischemic stroke, susceptibility to;Prothrombin deficiency, congenital;Pregnancy loss, recurrent, susceptibility to, 2 2017-07-14 11.4 1.0 Pathogenic/Likely pathogenic 1 -13324 Simple 121918453 T . Pathogenic 2 5 Noonan syndrome 1;LEOPARD syndrome 1;Noonan syndrome;not provided;Rasopathy 2017-08-01 28.8 1.0 Pathogenic 0 -13325 Simple 121918454 G . Pathogenic 2 3 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome;not provided 2017-05-18 16.8 1.3333333333333333 Pathogenic 0 -13326 Simple 28933386 G . Pathogenic 3 13 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome;not specified;not provided;Rasopathy 2017-04-03 73.2 1.2307692307692308 Pathogenic 0 -13327 Simple 121918455 G . Pathogenic 2 11 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome;not specified;not provided;Rasopathy 2017-07-18 60.6 1.5454545454545454 Pathogenic 0 -13328 Simple 121918456 G . Pathogenic/Likely pathogenic 2 9 Noonan syndrome 1;LEOPARD syndrome 1;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;Noonan syndrome;not provided;Rasopathy 2017-12-18 43.8 2.0 Pathogenic 1 -13329 Simple 121918460 G . Pathogenic 2 5 Noonan syndrome 1;Noonan syndrome;not provided;Rasopathy 2017-07-11 27.0 1.8 Pathogenic 0 -13330 Simple 121918461 G . Pathogenic 2 4 Noonan syndrome 1;Noonan syndrome;not provided;Rasopathy 2017-08-10 21.0 1.75 Pathogenic 0 -13331 Simple 121918457 T . Pathogenic 3 11 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;Noonan syndrome with multiple lentigines;LEOPARD syndrome 1;Noonan syndrome;not specified;not provided;Rasopathy;Cardiovascular phenotype 2017-04-03 58.5 1.4545454545454546 Pathogenic 0 -13332 Simple 121918458 A . Pathogenic 2 2 Noonan syndrome 1;Noonan syndrome;not provided;Rasopathy 2016-12-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -13333 Simple 121918459 G . Pathogenic 3 9 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome;not provided;Rasopathy 2017-04-03 49.8 1.3333333333333333 Pathogenic 0 -13334 Simple 121918462 T . Pathogenic 2 4 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome;not provided;Rasopathy 2017-08-07 24.0 0.5 Pathogenic 0 -13335 Simple 121918463 C . Pathogenic 2 5 Noonan syndrome 1;Noonan syndrome;not provided;Rasopathy;Early T cell progenitor acute lymphoblastic leukemia 2017-02-02 24.0 3.0 Pathogenic 0 -13338 Simple 121918465 G . Pathogenic/Likely pathogenic 2 2 Multiple myeloma;Neuroblastoma;Juvenile myelomonocytic leukemia;Squamous cell carcinoma of lung;not provided;Astrocytoma;Colorectal Neoplasms 2016-05-31 9.600000000000001 3.0 Pathogenic/Likely pathogenic 0 -13340 Simple 121918466 G . Pathogenic 2 5 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome;not provided;Rasopathy 2017-11-08 28.8 0.8 Pathogenic 0 -13342 Simple 121918468 A . Pathogenic 2 3 Noonan syndrome with multiple lentigines;LEOPARD syndrome 1;not provided;Rasopathy 2017-07-11 15.6 2.0 Pathogenic 0 -13343 Simple 121918469 C . Pathogenic 2 5 LEOPARD syndrome 1;not provided;Rasopathy 2017-05-10 25.2 2.2 Pathogenic 0 -13344 Simple 121918470 C . Pathogenic 3 5 Noonan syndrome with multiple lentigines;LEOPARD syndrome 1;not provided;Rasopathy 2017-04-03 28.2 1.4 Pathogenic 0 -13349 Simple 267606990 T . Pathogenic 2 2 Noonan syndrome 1;Noonan syndrome;not provided 2016-02-10 10.8 2.0 Pathogenic/Likely pathogenic 1 -13350 Simple 121908594 C . Pathogenic 3 2 not provided;Cardiofaciocutaneous syndrome 3;Cardio-facio-cutaneous syndrome 2017-05-09 12.6 0.5 Pathogenic/Likely pathogenic 1 -13351 Simple 121908595 G . Pathogenic 3 7 not provided;Rasopathy;Cardiofaciocutaneous syndrome 3;Cardio-facio-cutaneous syndrome 2017-05-09 37.2 2.0 Pathogenic 0 -13352 Simple 121908596 T . Pathogenic/Likely pathogenic 2 2 not provided;Cardiofaciocutaneous syndrome 3;Cardio-facio-cutaneous syndrome 2015-07-21 5.1 2.5 Likely pathogenic 1 -13417 Simple 28933979 A . Pathogenic 2 4 Amyloidogenic transthyretin amyloidosis;not provided 2017-07-12 20.4 2.0 Pathogenic 0 -13420 Simple 121918069 A . Pathogenic 2 3 Amyloidogenic transthyretin amyloidosis;not provided 2017-08-24 18.0 0.3333333333333333 Pathogenic 0 -13421 Simple 121918070 G . Pathogenic/Likely pathogenic 2 5 Amyloidogenic transthyretin amyloidosis;not provided 2017-07-27 24.6 2.6 Pathogenic 1 -13426 Simple 76992529 A . Pathogenic 2 9 Carpal tunnel syndrome;Dystransthyretinemic euthyroidal hyperthyroxinemia;Amyloidogenic transthyretin amyloidosis;Amyloid Cardiomyopathy, Transthyretin-related;Cardiomyopathy;not specified;not provided;Cardiovascular phenotype 2017-07-25 48.6 1.5555555555555556 Pathogenic 0 -13434 Simple 28933981 T . Benign/Likely benign, risk factor 2 4 Amyloidogenic transthyretin amyloidosis;AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF;not specified 2017-08-02 -18.9 1.75 Benign/Likely benign 0 -13452 Simple 1800458 A . Benign 2 5 TRANSTHYRETIN POLYMORPHISM;not specified;Cardiovascular phenotype 2017-02-15 -21.6 3.8 Benign/Likely benign 1 -13453 Simple 121918091 C . Pathogenic/Likely pathogenic 2 2 Amyloidogenic transthyretin amyloidosis;not provided 2017-08-04 8.4 1.0 Pathogenic/Likely pathogenic 0 -13468 Simple 267607161 T . Pathogenic/Likely pathogenic 2 2 Amyloidogenic transthyretin amyloidosis;not provided 2017-02-15 6.0 4.0 Likely pathogenic 1 -13477 Simple 74315445 T . Conflicting interpretations of pathogenicity 1 4 Jervell and Lange-Nielsen syndrome 2;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 5;Arrhythmogenic right ventricular cardiomyopathy;Long QT syndrome;Brugada syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype;Sudden unexplained death 2017-08-07 17.7 0.25 Pathogenic 3 -13496 Simple 113994095 T . Pathogenic/Likely pathogenic 2 9 Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Myoclonic epilepsy myopathy sensory ataxia;Mitochondrial diseases;Mitochondrial DNA depletion syndrome 4B, MNGIE type;not provided;POLG-Related Spectrum Disorders 2017-10-19 47.4 1.3333333333333333 Pathogenic 1 -13497 Simple 121918044 C . Pathogenic/Likely pathogenic 2 3 Cerebellar ataxia infantile with progressive external ophthalmoplegia;not provided 2017-11-08 14.4 0.6666666666666666 Pathogenic/Likely pathogenic 0 -13502 Simple 113994098 T . Pathogenic 2 8 Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic;Mitochondrial DNA depletion syndrome 4B, MNGIE type;not provided;POLG-Related Disorders;POLG-Related Spectrum Disorders 2017-10-26 46.8 0.875 Pathogenic 0 -13515 Simple 121918056 A . Pathogenic 2 2 Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4B, MNGIE type;not provided 2017-02-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -13518 Simple 121918040 T . Pathogenic 2 2 Polycystic kidney disease 2;not specified;not provided 2016-12-20 12.0 1.0 Pathogenic/Likely pathogenic 1 -13583 Simple 73015965 G . Pathogenic 2 2 Plasminogen deficiency, type I 2016-01-27 10.8 2.0 Pathogenic/Likely pathogenic 1 -13589 Simple 1044498 C . Benign, risk factor 2 3 Arterial calcification of infancy;Diabetes mellitus type 2;Obesity;Insulin resistance, susceptibility to;not specified;Hypophosphatemic Rickets, Recessive 2016-08-15 -17.4 1.3333333333333333 Benign/Likely benign 1 -13636 Simple 111033559 T . Pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1P;not provided 2017-06-02 17.4 1.0 Pathogenic 0 -13637 Simple 111033560 G . Pathogenic/Likely pathogenic 2 3 Dilated cardiomyopathy 1P;Primary familial hypertrophic cardiomyopathy;Familial hypertrophic cardiomyopathy 18;Sudden cardiac death;not provided;Dilated cardiomyopathy;Cardiac arrest 2017-07-21 15.600000000000001 2.0 Pathogenic 1 -13670 Simple 121918007 A . Pathogenic/Likely pathogenic 2 5 Adult hypophosphatasia;Childhood hypophosphatasia;Infantile hypophosphatasia;Hypophosphatasia;not provided 2017-07-06 30.0 0.8 Pathogenic 1 -13671 Simple 121918008 T . Pathogenic 2 4 Adult hypophosphatasia;Infantile hypophosphatasia;Hypophosphatasia;not provided 2016-02-04 19.8 2.75 Pathogenic 0 -13672 Simple 121918009 A . Pathogenic/Likely pathogenic 2 2 Infantile hypophosphatasia;Hypophosphatasia;not provided 2016-11-04 8.7 1.5 Pathogenic/Likely pathogenic 0 -13673 Simple 121918010 C . Pathogenic/Likely pathogenic 2 3 Adult hypophosphatasia;Infantile hypophosphatasia;Hypophosphatasia 2016-06-28 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -13674 Simple 387906525 - . Pathogenic 2 3 Adult hypophosphatasia;Infantile hypophosphatasia;Hypophosphatasia 2016-02-04 15.0 2.6666666666666665 Pathogenic 0 -13675 Simple 121918011 A . Pathogenic/Likely pathogenic 2 2 Childhood hypophosphatasia;Infantile hypophosphatasia;Hypophosphatasia 2016-06-14 8.4 2.0 Pathogenic/Likely pathogenic 0 -13677 Simple 121918013 A . Pathogenic/Likely pathogenic 2 3 Adult hypophosphatasia;Childhood hypophosphatasia;Infantile hypophosphatasia;Odontohypophosphatasia;not provided 2016-07-27 13.8 2.0 Pathogenic/Likely pathogenic 0 -13679 Simple 121918014 G . Pathogenic/Likely pathogenic 2 2 Adult hypophosphatasia;Infantile hypophosphatasia;Hypophosphatasia, perinatal lethal 2015-07-16 5.1 2.5 Likely pathogenic 1 -13791 Simple 2233578 A . Benign/Likely benign, risk factor 2 3 Diabetes mellitus, ketosis-prone, susceptibility to;not specified;Maturity-onset diabetes of the young;Monogenic diabetes 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -13807 Simple 267606704 C . Pathogenic 2 3 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;not provided 2016-04-11 14.4 3.0 Pathogenic/Likely pathogenic 1 -13887 Simple 121913243 G . Pathogenic/Likely pathogenic 2 3 Renal cell carcinoma, papillary, 1;not provided;Kidney Carcinoma 2017-10-04 16.2 1.6666666666666667 Pathogenic 1 -13900 Simple 11554290 C . Pathogenic/Likely pathogenic 2 1 Giant pigmented hairy nevus;Liver cancer;Chronic lymphocytic leukemia;Neurocutaneous melanosis;Malignant melanoma of skin;Multiple myeloma;Epidermal nevus syndrome;Epidermal nevus;Thyroid cancer, follicular;Adenocarcinoma of lung;Non-small cell lung cancer;Kidney cancer;Acute myeloid leukemia;not provided;Neoplasm of brain;Malignant melanoma;Glioblastoma;Renal cell carcinoma;Hepatocellular carcinoma;Transitional cell carcinoma of the bladder;Colorectal Neoplasms;Nasopharyngeal Neoplasms;Adrenocortical carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus 2016-05-31 . 2.0 . 0 -13902 Simple 267606921 A . Pathogenic 2 2 Noonan syndrome 1;Noonan syndrome 6;Noonan syndrome;Rasopathy 2016-06-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -13903 Simple 267606920 T . Pathogenic 2 2 Noonan syndrome 1;Noonan syndrome 6;not provided 2017-08-01 10.2 2.0 Pathogenic/Likely pathogenic 1 -13905 Simple 76262710 G . Pathogenic 2 3 Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2A and Unclassified;not provided 2017-07-20 15.0 2.0 Pathogenic 0 -13908 Simple 75076352 G . Pathogenic 2 2 Pheochromocytoma;Multiple endocrine neoplasia, type 2a;MEN2A and Unclassified;not specified;not provided 2017-05-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -13909 Simple 75996173 A . Pathogenic/Likely pathogenic 2 5 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not specified;not provided;Hereditary cancer-predisposing syndrome;Neoplasm 2017-04-11 27.0 1.6 Pathogenic 1 -13914 Simple 79781594 C . Pathogenic 2 5 Familial medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not specified;not provided 2017-10-12 29.4 0.6 Pathogenic 0 -13915 Simple 77316810 C . Pathogenic 2 3 Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not provided;Hereditary cancer-predisposing syndrome 2017-11-01 18.0 0.6666666666666666 Pathogenic 0 -13917 Simple 75076352 C . Pathogenic/Likely pathogenic 2 5 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-28 27.6 1.2 Pathogenic 1 -13918 Simple 77709286 G . Pathogenic/Likely pathogenic 2 2 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not provided;Neoplasm of the thyroid gland 2016-11-21 12.0 1.0 Pathogenic/Likely pathogenic 0 -13919 Simple 74799832 C . Pathogenic/Likely pathogenic 2 7 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Thyroid carcinoma, sporadic medullary;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;not specified;Short stature;Hypothyroidism;Constipation;not provided;Gingival overgrowth;Hypertelorism;Joint hypermobility;Tetralogy of Fallot;Thick vermilion border;Neoplasm of the thyroid gland 2017-10-31 39.6 1.4285714285714286 Pathogenic 1 -13928 Simple 77503355 T . Pathogenic 2 6 Multiple endocrine neoplasia, type 2b;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not provided 2017-03-06 36.0 0.8333333333333334 Pathogenic 0 -13929 Simple 76262710 C . Pathogenic/Likely pathogenic 2 3 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia, type 2b;Familial medullary thyroid carcinoma;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 1;MEN2A and FMTC;not provided 2016-05-13 15.6 2.3333333333333335 Pathogenic 1 -13933 Simple 77939446 A . Pathogenic/Likely pathogenic 2 6 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia, type 2b;Familial medullary thyroid carcinoma;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-26 35.4 0.8333333333333334 Pathogenic 1 -13938 Simple 17158558 T . Benign/Likely benign, risk factor 2 14 Hirschsprung disease 1;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified;not provided;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-08-08 -67.2 1.5 Benign 1 -13940 Simple 1800858 A . Benign, risk factor 2 2 Hirschsprung disease 1;Multiple endocrine neoplasia, type 2;not specified;not provided 2017-08-22 -10.2 2.0 Benign/Likely benign 1 -13946 Simple 79658334 T . Pathogenic 2 4 Familial medullary thyroid carcinoma;MEN2A and FMTC;not specified;not provided;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia 2017-09-11 24.0 0.5 Pathogenic 0 -13950 Simple 75873440 T . Pathogenic 2 2 Familial medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not provided 2017-05-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -13951 Simple 75234356 G . Pathogenic/Likely pathogenic 2 3 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia, type 2b;Familial medullary thyroid carcinoma;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not provided;Multiple endocrine neoplasia IIA 2017-08-17 16.8 1.0 Pathogenic 1 -13955 Simple 75686697 A . Uncertain significance 2 2 Renal adysplasia;Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;Hereditary cancer-predisposing syndrome 2017-11-17 -0.5700000000000001 1.0 Uncertain significance 0 -13957 Simple 80338796 A . Pathogenic 3 10 LEOPARD syndrome 2;Malignant melanoma of skin;Noonan syndrome 5;Noonan syndrome with multiple lentigines;Adenocarcinoma of lung;Noonan syndrome;not provided;Rasopathy;Cardiomyopathy, dilated, 1NN;Colorectal Neoplasms;Adenocarcinoma of stomach 2017-04-03 58.2 1.0 Pathogenic 0 -13958 Simple 121434594 A . Pathogenic 3 5 Noonan syndrome 5;Primary familial hypertrophic cardiomyopathy;Noonan syndrome;not provided;Rasopathy 2017-04-03 28.8 1.0 Pathogenic 0 -13960 Simple 80338797 C . Pathogenic 3 3 LEOPARD syndrome 2;Noonan syndrome 5;Noonan syndrome with multiple lentigines;Noonan syndrome;not provided;Rasopathy 2017-04-03 16.8 1.3333333333333333 Pathogenic 0 -13964 Simple 121913348 T . Pathogenic/Likely pathogenic 2 3 Chronic lymphocytic leukemia;Carcinoma of colon;not provided;Rasopathy;Neoplasm 2016-05-13 9.600000000000001 3.6666666666666665 Pathogenic/Likely pathogenic 0 -13965 Simple 180177034 G . Pathogenic 3 4 Cardiofaciocutaneous syndrome 1;not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-03 21.6 2.0 Pathogenic 0 -13969 Simple 121913369 C . Pathogenic/Likely pathogenic 2 2 Lung cancer;Noonan syndrome 1;Non-small cell lung cancer;Noonan syndrome 7;not provided;Rasopathy;Malignant melanoma;Neoplasm 2017-05-15 9.0 5.0 Pathogenic/Likely pathogenic 0 -13973 Simple 180177035 C . Pathogenic 3 9 Cardiofaciocutaneous syndrome 1;not specified;not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-03 48.0 2.0 Pathogenic 0 -13974 Simple 121913355 T . Pathogenic 3 6 Cardiofaciocutaneous syndrome 1;Malignant melanoma of skin;Multiple myeloma;Adenocarcinoma of lung;Squamous cell carcinoma of lung;not specified;not provided;Rasopathy;Malignant melanoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Cardio-facio-cutaneous syndrome;Colorectal Neoplasms;Adenocarcinoma of prostate 2017-04-03 32.4 1.8333333333333333 Pathogenic 0 -13976 Simple 180177037 C . Pathogenic/Likely pathogenic 2 2 Cardiofaciocutaneous syndrome 1;not provided 2017-07-10 8.7 1.0 Pathogenic/Likely pathogenic 0 -13977 Simple 180177038 T . Pathogenic/Likely pathogenic 2 4 Cardiofaciocutaneous syndrome 1;Noonan syndrome 7;not provided;Rasopathy 2015-12-29 18.3 2.25 Pathogenic 1 -13978 Simple 180177039 C . Pathogenic/Likely pathogenic 2 4 Cardiofaciocutaneous syndrome 1;Ventricular septal defect;Webbed neck;not provided;Downslanted palpebral fissures;Premature birth;Wide intermamillary distance;High forehead;Low-set, posteriorly rotated ears;Pulmonic stenosis;Ventricular hypertrophy;Neonatal respiratory distress;Cardio-facio-cutaneous syndrome 2017-02-16 16.8 3.0 Pathogenic 1 -13979 Simple 180177040 C . Pathogenic 3 4 Cardiofaciocutaneous syndrome 1;not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-03 22.8 1.25 Pathogenic 0 -13981 Simple 180177042 T . Pathogenic 2 2 Cardiofaciocutaneous syndrome 1;not provided 2017-09-08 10.8 1.5 Pathogenic/Likely pathogenic 1 -13992 Simple 1049564 A . Benign 2 3 Purine-nucleoside phosphorylase deficiency;NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -14002 Simple 121434591 G . Pathogenic/Likely pathogenic 2 2 Amyotrophic lateral sclerosis 21;not provided 2017-06-20 12.0 0.5 Pathogenic/Likely pathogenic 0 -14056 Simple 121913659 T . Pathogenic/Likely pathogenic 2 3 Mitochondrial complex I deficiency;not provided 2017-05-18 10.8 3.0 Pathogenic/Likely pathogenic 0 -14061 Simple 104893748 C . Pathogenic 2 2 Familial hypertrophic cardiomyopathy 8;not provided;Hypertrophic cardiomyopathy 2017-08-31 10.8 1.5 Pathogenic/Likely pathogenic 1 -14065 Simple 104894368 T . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 10;Primary familial hypertrophic cardiomyopathy;not provided;Death in early adulthood 2016-10-07 15.0 1.0 Pathogenic 1 -14067 Simple 104894369 T . Pathogenic/Likely pathogenic 2 4 Familial hypertrophic cardiomyopathy 10;Primary familial hypertrophic cardiomyopathy;not provided 2017-10-31 21.0 1.5 Pathogenic 1 -14087 Simple 121913624 T . Pathogenic 3 6 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 36.0 0.5 Pathogenic 0 -14088 Simple 3218713 T . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-08-01 24.900000000000002 1.6 Pathogenic 1 -14089 Simple 121913625 A . Pathogenic 3 6 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;Familial restrictive cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 31.5 1.6666666666666667 Pathogenic 0 -14090 Simple 121913626 G . Pathogenic 3 6 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 32.1 1.6666666666666667 Pathogenic 0 -14091 Simple 121913627 T . Pathogenic/Likely pathogenic 2 7 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-03-13 33.3 2.4285714285714284 Pathogenic 1 -14092 Simple 121913628 T . Pathogenic/Likely pathogenic 2 4 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-16 22.8 1.0 Pathogenic 1 -14095 Simple 121913630 A . Pathogenic 3 6 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 29.4 1.3333333333333333 Pathogenic 0 -14097 Simple 121913631 C . Pathogenic 3 9 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 48.3 1.3333333333333333 Pathogenic 0 -14098 Simple 121913632 G . Pathogenic 3 5 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 23.7 1.2 Pathogenic 0 -14099 Simple 121913633 T . Pathogenic 2 2 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided 2017-05-25 10.2 2.0 Pathogenic/Likely pathogenic 1 -14102 Simple 3218714 A . Pathogenic 3 7 Familial hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Congenital myopathy with fiber type disproportion;Dilated cardiomyopathy 1S;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;Scapuloperoneal myopathy, MYH7-related;not provided;Hypertrophic cardiomyopathy 2016-12-15 34.5 2.0 Pathogenic 0 -14104 Simple 121913637 A . Pathogenic 3 7 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Cardiovascular phenotype 2016-12-15 39.6 1.5714285714285714 Pathogenic 0 -14105 Simple 121913638 T . Pathogenic 3 5 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2016-12-15 22.56 1.6 Pathogenic 0 -14107 Simple 121913641 T . Pathogenic 3 6 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 31.5 1.5 Pathogenic 0 -14108 Simple 121913642 G . Pathogenic 3 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1S 2016-12-15 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -14111 Simple 121913644 A . Uncertain significance 2 4 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-06-27 -1.02 2.25 Uncertain significance 0 -14118 Simple 121913650 A . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-26 11.1 1.3333333333333333 Pathogenic/Likely pathogenic 0 -14120 Simple 36211715 T . Pathogenic 3 7 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 36.6 1.5714285714285714 Pathogenic 0 -14125 Simple 267606908 C . Pathogenic 3 6 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 33.0 1.8333333333333333 Pathogenic 0 -14162 Simple 17292650 T . Benign/Likely benign, risk factor 2 3 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;Thrombocytosis, benign familial microcytic;not specified 2017-04-21 -12.0 0.6666666666666666 Benign/Likely benign 0 -14169 Simple 121913585 C . Pathogenic 2 2 Dejerine-Sottas syndrome, autosomal dominant;not provided 2016-09-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -14175 Simple 121913590 A . Pathogenic 2 3 Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I;not provided 2017-04-04 16.2 1.6666666666666667 Pathogenic 0 -14176 Simple 121913589 T . Pathogenic/Likely pathogenic 2 5 Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I;not provided;Decreased nerve conduction velocity;Sensory neuropathy;Pes cavus;Distal muscle weakness;Distal lower limb amyotrophy 2017-06-27 25.2 1.4 Pathogenic 1 -14188 Simple 121913601 A . Pathogenic 2 4 Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths;Charcot-Marie-Tooth disease, type I;not provided 2017-06-19 22.8 1.25 Pathogenic 0 -14191 Simple 121913603 G . Pathogenic 2 2 Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I;not provided 2015-11-27 10.8 2.0 Pathogenic/Likely pathogenic 1 -14208 Simple 199476103 C . Pathogenic 2 3 Metaphyseal chondrodysplasia, McKusick type;Metaphyseal dysplasia without hypotrichosis;not provided;Anauxetic dysplasia 2016-11-22 17.4 1.3333333333333333 Pathogenic 0 -14231 Simple 199422224 C . Pathogenic 2 2 Mitochondrial complex I deficiency;not provided 2017-05-19 9.6 2.5 Pathogenic/Likely pathogenic 1 -14242 Simple 3816873 C . Benign/Likely benign, protective 2 2 Metabolic syndrome, protection against;not specified;Abetalipoproteinemia 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -14278 Simple 121913578 T . Pathogenic/Likely pathogenic 2 3 METHYLCOBALAMIN DEFICIENCY, cblG TYPE;not provided;Intellectual disability, profound;Inborn genetic diseases;Seizure disorder 2016-03-28 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -14308 Simple 2228479 A . Benign, association 2 1 Skin/hair/eye pigmentation 2, red hair/fair skin;Skin/hair/eye pigmentation 2, blond hair/fair skin;not specified;Malignant Melanoma Susceptibility 2016-06-14 . 1.0 . 0 -14311 Simple 1805005 T . Benign, association 2 2 Skin/hair/eye pigmentation 2, blond hair/fair skin;not specified;Malignant Melanoma Susceptibility 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -14345 Simple 104894489 A . Pathogenic/Likely pathogenic 2 2 Congenital disorder of glycosylation type 1B;Congenital disorder of glycosylation 2016-07-14 9.0 1.0 Pathogenic/Likely pathogenic 0 -14370 Simple 121913552 G . Pathogenic 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not provided 2017-07-24 12.0 0.0 Pathogenic/Likely pathogenic 1 -14420 Simple 121912504 A . Pathogenic 2 2 Long QT syndrome 2;Long QT syndrome;not provided;Congenital long QT syndrome 2017-06-30 12.0 0.0 Pathogenic/Likely pathogenic 1 -14428 Simple 121912508 A . Pathogenic 2 2 Long QT syndrome 2;Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-31 10.8 1.5 Pathogenic/Likely pathogenic 1 -14478 Simple 58932704 T . Pathogenic/Likely pathogenic 2 6 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Limb-girdle muscular dystrophy, type 1B;Charcot-Marie-Tooth disease, type 2;Muscular dystrophy;not provided 2017-08-30 29.1 1.8333333333333333 Pathogenic 1 -14486 Simple 11575937 A . Pathogenic 2 4 Familial partial lipodystrophy 2;Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;not provided;Partial lipodystrophy, Dunnigan;Laminopathy 2017-03-09 21.6 1.75 Pathogenic 0 -14495 Simple 61672878 A . Pathogenic 2 2 Dilated cardiomyopathy 1A;Limb-girdle muscular dystrophy, type 1B;Charcot-Marie-Tooth disease, type 2;Muscular dystrophy;not provided 2017-07-05 9.6 2.5 Pathogenic/Likely pathogenic 1 -14500 Simple 58596362 T . Pathogenic 2 3 Hutchinson-Gilford syndrome;Mandibuloacral dysostosis;Lethal tight skin contracture syndrome;not provided;Laminopathy 2016-02-04 13.200000000000001 3.6666666666666665 Pathogenic/Likely pathogenic 1 -14504 Simple 28933093 A . Pathogenic/Likely pathogenic 2 3 Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;not provided 2017-09-01 12.6 2.0 Pathogenic/Likely pathogenic 0 -14524 Simple 121912496 T . Pathogenic 2 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Congenital muscular dystrophy, LMNA-related;not provided 2017-10-19 9.6 2.5 Pathogenic/Likely pathogenic 1 -14525 Simple 60458016 A . Pathogenic 2 8 Dilated cardiomyopathy 1A;Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Familial partial lipodystrophy 2;Mandibuloacral dysostosis;Limb-girdle muscular dystrophy, type 1B;Congenital muscular dystrophy, LMNA-related;Charcot-Marie-Tooth disease, type 2;Muscular dystrophy;not provided 2017-05-16 42.0 2.125 Pathogenic 0 -14539 Simple 80356682 A . Pathogenic 2 3 Junctional epidermolysis bullosa gravis of Herlitz;Adult junctional epidermolysis bullosa;not provided 2017-10-17 16.8 1.3333333333333333 Pathogenic 0 -14541 Simple 80356680 A . Pathogenic 2 2 Junctional epidermolysis bullosa gravis of Herlitz;not provided 2016-09-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -14601 Simple 59856285 A . Pathogenic 2 2 Pachyonychia congenita 1;Palmoplantar keratoderma, nonepidermolytic, focal;not provided 2017-12-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -14716 Simple 121913502 T . Pathogenic/Likely pathogenic 2 2 Multiple myeloma;Squamous cell carcinoma of the head and neck;Acute myeloid leukemia;D-2-hydroxyglutaric aciduria 2;Myelodysplastic syndrome;not provided;Colorectal Neoplasms 2016-05-31 10.8 2.0 Pathogenic/Likely pathogenic 0 -14746 Simple 1127354 A . drug response 3 0 Inosine triphosphatase deficiency;interferon alfa-2b, recombinant and ribavirin response - Dosage, Toxicity/ADR;peginterferon alfa-2b and ribavirin response - Toxicity/ADR . . . . 0 -14747 Simple 7270101 C . drug response 3 0 Inosine triphosphatase deficiency;peginterferon alfa-2b and ribavirin response - Toxicity/ADR;peginterferon alfa-2b response - Toxicity/ADR;ribavirin response - Toxicity/ADR . . . . 0 -14751 Simple 4880 G . drug response 3 0 Microvascular complications of diabetes 6;SUPEROXIDE DISMUTASE 2 POLYMORPHISM;cyclophosphamide response - Efficacy . . . . 0 -14763 Simple 121912442 T . Pathogenic 2 3 Amyotrophic lateral sclerosis type 1;not provided 2017-08-09 16.2 1.6666666666666667 Pathogenic 0 -14794 Simple 33958176 A . Uncertain significance, protective 2 2 Insulin-like growth factor 1 resistance to;not specified;not provided 2016-12-31 -0.6 1.0 Uncertain significance 0 -14823 Simple 1801274 G . drug response 3 1 Malaria, severe, susceptibility to;Lupus nephritis, susceptibility to;Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis;not specified;trastuzumab response - Efficacy . . 1.0 . 0 -14927 Simple 587776825 CC . Pathogenic 2 3 Diabetes mellitus type 1;Diabetes mellitus, insulin-dependent, 20;Maturity-onset diabetes of the young, type 3;Hepatic adenomas, familial;not provided;Clear cell carcinoma of kidney 2017-11-06 15.600000000000001 2.0 Pathogenic 0 -14931 Simple 137853238 A . Pathogenic 2 2 Diabetes mellitus, insulin-dependent, 20;not provided;Monogenic diabetes 2017-04-26 11.4 1.0 Pathogenic/Likely pathogenic 1 -14937 Simple 1169288 C . Benign/Likely benign, risk factor 2 4 Insulin resistance, susceptibility to;SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF;not specified;Maturity-onset diabetes of the young 2017-07-12 -21.0 2.0 Benign/Likely benign 0 -14943 Simple 137853244 T . Pathogenic 2 2 Maturity-onset diabetes of the young, type 3;not provided 2017-08-17 12.0 0.5 Pathogenic/Likely pathogenic 1 -15126 Simple 33930165 T . Pathogenic, protective 2 4 Hb SS disease;Malaria, resistance to;HEMOGLOBIN C;beta Thalassemia;not specified;not provided 2017-06-27 22.2 1.5 Pathogenic 0 -15161 Simple 33950507 T . Pathogenic, other, protective 2 4 Hb SS disease;Malaria, resistance to;Beta-plus-thalassemia;Hemoglobin E;Hemoglobin E/beta thalassemia disease;beta Thalassemia;not specified;not provided 2017-08-23 22.2 1.25 Pathogenic 0 -15234 Simple 33960103 G . Pathogenic 2 3 beta Thalassemia;Beta thalassemia major;not specified;not provided 2017-01-17 16.8 1.6666666666666667 Pathogenic 0 -15278 Simple 33914359 C . Likely benign, other 2 2 HEMOGLOBIN N (BALTIMORE);HEMOGLOBIN N (JENKINS);HEMOGLOBIN JENKINS;HEMOGLOBIN HOPKINS 1;HEMOGLOBIN KENWOOD;not specified 2017-06-10 -6.0 0.0 Likely benign 0 -15292 Simple 33946267 T . Pathogenic, other 2 2 Hb SS disease;HEMOGLOBIN O (ARAB);HEMOGLOBIN EGYPT;beta Thalassemia;not specified;not provided 2017-06-26 12.0 0.0 Pathogenic/Likely pathogenic 1 -15333 Simple 334 A . Pathogenic, other, protective 2 7 Beta-thalassemia, dominant inclusion body type;Fetal hemoglobin quantitative trait locus 1;Heinz body anemia;Hb SS disease;Malaria, resistance to;Susceptibility to malaria;HEMOGLOBIN S;beta Thalassemia;not specified;not provided 2017-12-12 36.6 2.0 Pathogenic 0 -15401 Simple 33986703 A . Pathogenic 2 2 beta^0^ Thalassemia;beta Thalassemia;not specified 2017-06-15 12.0 0.0 Pathogenic/Likely pathogenic 1 -15402 Simple 11549407 A . Pathogenic 2 6 beta^0^ Thalassemia;beta Thalassemia;not specified;not provided 2017-06-21 34.8 1.1666666666666667 Pathogenic 0 -15403 Simple 63750783 T . Pathogenic 2 3 beta^0^ Thalassemia;beta Thalassemia;not specified;not provided 2017-06-30 17.4 0.6666666666666666 Pathogenic 0 -15405 Simple 33974936 T . Pathogenic/Likely pathogenic 2 2 beta^0^ Thalassemia;beta Thalassemia;not provided 2017-06-30 8.4 1.5 Pathogenic/Likely pathogenic 0 -15413 Simple 35497102 - . Pathogenic 2 3 beta^0^ Thalassemia;beta Thalassemia;not provided 2016-11-12 14.4 3.0 Pathogenic/Likely pathogenic 1 -15414 Simple 35662066 - . Pathogenic 2 2 beta^0^ Thalassemia;beta Thalassemia 2017-06-15 10.8 1.5 Pathogenic/Likely pathogenic 1 -15415 Simple 80356820 - . Pathogenic 2 3 beta^0^ Thalassemia;beta Thalassemia;not specified;not provided 2017-06-30 16.8 1.0 Pathogenic 0 -15417 Simple 80356821 - . Pathogenic 2 3 beta^0^ Thalassemia;beta Thalassemia;not provided 2017-03-22 17.4 1.0 Pathogenic 0 -15418 Simple 63749819 - . Pathogenic 2 2 beta^0^ Thalassemia;beta Thalassemia;not specified 2017-05-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -15419 Simple 33969853 TT . Pathogenic/Likely pathogenic 2 2 beta^0^ Thalassemia;beta Thalassemia;not provided 2016-11-17 8.7 1.5 Pathogenic/Likely pathogenic 0 -15420 Simple 281864901 - . Pathogenic/Likely pathogenic 2 2 beta^0^ Thalassemia;beta Thalassemia;not provided 2017-06-30 8.4 1.5 Pathogenic/Likely pathogenic 0 -15432 Simple 35532010 GG . Pathogenic/Likely pathogenic 2 2 beta^0^ Thalassemia;beta Thalassemia;not provided 2017-06-14 8.4 1.5 Pathogenic/Likely pathogenic 0 -15434 Simple 33941849 C . Pathogenic 2 2 beta^0^ Thalassemia;not specified;not provided 2017-07-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -15436 Simple 33971440 T . Pathogenic 2 4 beta^0^ Thalassemia;beta Thalassemia;not specified;not provided 2017-07-19 23.4 0.5 Pathogenic 0 -15437 Simple 33971440 A . Pathogenic/Likely pathogenic 2 3 beta^0^ Thalassemia;beta Thalassemia;not specified;not provided 2017-07-10 14.4 1.0 Pathogenic/Likely pathogenic 0 -15438 Simple 33945777 T . Pathogenic 2 4 beta^0^ Thalassemia;beta Thalassemia;not specified;not provided 2017-06-30 23.4 0.75 Pathogenic 0 -15447 Simple 33915217 G . Pathogenic 2 4 Beta-plus-thalassemia;beta Thalassemia;not specified;not provided 2017-07-10 23.4 0.5 Pathogenic 0 -15448 Simple 33915217 A . Pathogenic 2 3 Beta-plus-thalassemia;Beta thalassemia major;not specified;not provided 2017-06-09 15.0 2.3333333333333335 Pathogenic 0 -15449 Simple 33915217 T . Pathogenic/Likely pathogenic 2 2 Beta-plus-thalassemia;beta Thalassemia 2014-08-06 5.4 4.5 Likely pathogenic 1 -15450 Simple 35724775 G . Pathogenic 2 3 Beta-plus-thalassemia;beta Thalassemia;not specified;not provided 2017-09-17 17.4 0.6666666666666666 Pathogenic 0 -15451 Simple 33913413 T . Pathogenic 2 2 Beta-plus-thalassemia;Beta thalassemia intermedia;not provided 2017-06-30 9.0 3.0 Pathogenic/Likely pathogenic 1 -15454 Simple 35004220 T . Pathogenic 2 3 Beta-plus-thalassemia;beta Thalassemia;Beta thalassemia major;not specified 2017-06-26 14.4 2.6666666666666665 Pathogenic/Likely pathogenic 1 -15457 Simple 34690599 C . Pathogenic 2 5 Beta-plus-thalassemia;beta Thalassemia;not specified;not provided 2017-03-28 26.4 2.0 Pathogenic 0 -15458 Simple 34451549 A . Pathogenic 2 3 beta^0^ Thalassemia;beta Thalassemia;Beta thalassemia major;not specified 2017-06-16 14.4 2.6666666666666665 Pathogenic/Likely pathogenic 1 -15459 Simple 33951465 T . Pathogenic/Likely pathogenic 2 4 Beta-plus-thalassemia;beta Thalassemia;not specified;not provided 2016-11-12 17.7 2.5 Pathogenic 1 -15460 Simple 33944208 A . Pathogenic/Likely pathogenic 2 3 Beta-plus-thalassemia;beta Thalassemia;Beta thalassemia intermedia;not provided 2017-06-30 12.0 2.0 Pathogenic/Likely pathogenic 0 -15464 Simple 33941377 C . Pathogenic/Likely pathogenic 2 3 Beta-plus-thalassemia;beta Thalassemia;Beta thalassemia intermedia;not provided 2017-06-16 12.0 2.0 Pathogenic/Likely pathogenic 0 -15467 Simple 33980857 T . Pathogenic 2 2 Beta-plus-thalassemia;beta Thalassemia;not provided 2017-04-20 9.0 3.0 Pathogenic/Likely pathogenic 1 -15469 Simple 34598529 C . Pathogenic 2 2 Beta-plus-thalassemia;beta Thalassemia;Beta thalassemia intermedia 2017-06-16 9.0 3.0 Pathogenic/Likely pathogenic 1 -15471 Simple 33931746 C . Pathogenic/Likely pathogenic 2 3 Beta-plus-thalassemia;beta Thalassemia;not provided 2017-06-16 12.0 2.0 Pathogenic/Likely pathogenic 0 -15519 Simple 33930702 T . Pathogenic 2 2 beta^0^ Thalassemia;not specified;not provided 2017-02-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -15624 Simple 41464951 C . Pathogenic, other 2 2 alpha Thalassemia;Hemoglobin constant spring;Hemoglobin H disease, nondeletional;not specified 2017-06-12 10.8 1.5 Pathogenic/Likely pathogenic 1 -15647 Simple 63750067 G . Pathogenic/Likely pathogenic 2 2 Alpha-thalassemia-2, nondeletional;Hemoglobin H disease, nondeletional;not specified;not provided 2017-03-27 9.0 0.5 Pathogenic/Likely pathogenic 0 -15798 Simple 63751008 A . Uncertain significance, other 2 2 HEMOGLOBIN OWARI;not specified 2017-01-19 -0.6 1.0 Uncertain significance 0 -15999 Simple 797044451 - . Pathogenic 2 2 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome;not provided 2016-08-04 10.8 2.0 Pathogenic/Likely pathogenic 1 -16023 Simple 104893836 C . Pathogenic 2 2 Hypogonadotropic hypogonadism 7 with or without anosmia;not provided 2017-05-25 10.8 1.5 Pathogenic/Likely pathogenic 1 -16030 Simple 104893842 T . Pathogenic 2 2 Hypogonadotropic hypogonadism 7 with or without anosmia;not provided;Isolated GnRH Deficiency 2017-06-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -16061 Simple 121918408 T . Pathogenic 2 2 Hyperekplexia hereditary 2017-07-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -16075 Simple 641153 A . Benign/Likely benign, protective 2 7 Atypical hemolytic uremic syndrome;Factor B fast/slow polymorphism;BF*FA/S;Complement component 2 deficiency;not specified;Age-related macular degeneration 14;Macular degeneration 2017-10-30 -36.0 1.0 Benign 1 -16111 Simple 80359816 T . Pathogenic 2 4 GLUT1 deficiency syndrome 1;Epilepsy, idiopathic generalized, susceptibility to, 12;not provided 2016-12-05 18.0 3.5 Pathogenic 0 -16113 Simple 121909739 T . Pathogenic 2 4 GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2;GLUT1 deficiency syndrome 1, autosomal recessive;Epilepsy, idiopathic generalized, susceptibility to, 12;not provided 2017-01-20 20.4 2.5 Pathogenic 0 -16114 Simple 121909740 T . Pathogenic 2 2 GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2;not provided 2017-04-25 10.2 2.0 Pathogenic/Likely pathogenic 1 -16118 Simple 80359818 A . Pathogenic 2 4 Dystonia 9;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2;GLUT1 deficiency syndrome 1, autosomal recessive;Epilepsy, idiopathic generalized, susceptibility to, 12;not provided 2017-01-20 19.8 2.75 Pathogenic 0 -16122 Simple 121909731 A . Pathogenic 2 2 Hyperinsulinism-hyperammonemia syndrome;not provided 2014-08-14 9.6 3.0 Pathogenic/Likely pathogenic 1 -16134 Simple 80356655 A . Pathogenic 2 2 Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young, type 2;not provided 2017-06-12 10.2 2.0 Pathogenic/Likely pathogenic 1 -16135 Simple 104894008 T . Pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2017-09-14 12.0 0.0 Pathogenic/Likely pathogenic 1 -16168 Simple 59565950 T . Pathogenic 2 1 Alexander's disease;not provided 2017-05-16 . 0.0 . 0 -16191 Simple 25409 A . Benign/Likely benign, risk factor 2 3 Epilepsy, childhood absence 5;not specified 2017-09-06 -11.7 1.0 Benign/Likely benign 0 -16192 Simple 121913126 A . Uncertain significance, risk factor 2 2 Epilepsy, childhood absence 5;not specified 2017-05-16 -0.6 0.5 Uncertain significance 0 -16232 Simple 121913120 A . Pathogenic 2 5 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 30.0 0.4 Pathogenic 0 -16235 Simple 121913122 A . Pathogenic 2 3 Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-09-18 17.4 1.0 Pathogenic 0 -16236 Simple 121913123 T . Pathogenic 2 6 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-07-20 34.8 1.0 Pathogenic 0 -16246 Simple 6165 T . Benign, drug response 2 2 Ovarian hyperstimulation syndrome;Ovarian response to FSH stimulation;not specified;Ovarian Dysgenesis 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -16247 Simple 6166 T . Benign, drug response, risk factor 2 2 Ovarian hyperstimulation syndrome;Ovarian response to FSH stimulation;not specified;Ovarian Dysgenesis 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -16255 Simple 121918405 T . Pathogenic 2 2 Cerebral folate deficiency 2016-08-04 11.4 1.5 Pathogenic/Likely pathogenic 1 -16296 Simple 121909639 A . Pathogenic, risk factor 2 2 Kallmann syndrome 2;not provided;HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO 2017-04-28 11.4 1.0 Pathogenic/Likely pathogenic 1 -16327 Simple 28931614 A . Pathogenic 2 4 Achondroplasia;Epidermal nevus;not specified;not provided;Craniosynostosis 2017-06-26 23.4 0.75 Pathogenic 0 -16329 Simple 28931615 A . Pathogenic/Likely pathogenic 2 3 Crouzon syndrome with acanthosis nigricans;not provided;Craniosynostosis;Carcinoma 2016-10-20 17.4 1.3333333333333333 Pathogenic 1 -16332 Simple 121913482 T . Pathogenic/Likely pathogenic 2 6 Multiple myeloma;Squamous cell carcinoma of the head and neck;Thanatophoric dysplasia type 1;Keratosis, seborrheic;Epidermal nevus;Adenocarcinoma of lung;Squamous cell carcinoma of lung;Skeletal dysplasia with acanthosis nigricans;not specified;Short stature;not provided;Short ribs;Narrow chest;Growth delay;Small for gestational age;Bell-shaped thorax;Skeletal dysplasia;Femoral bowing;Bowed humerus;Transitional cell carcinoma of the bladder;Disproportionate short-limb short stature;Lethal short-limbed short stature;Lower limb undergrowth;Upper limb undergrowth;Carcinoma 2017-09-11 34.8 1.0 Pathogenic 1 -16337 Simple 28933068 A . Pathogenic 2 5 Achondroplasia;Hypochondroplasia;not specified;not provided;Craniosynostosis 2017-05-16 28.8 1.2 Pathogenic 0 -16338 Simple 28933068 G . Pathogenic 2 6 Achondroplasia;Hypochondroplasia;Short stature;not provided;Craniosynostosis 2017-06-19 34.8 1.0 Pathogenic 0 -16339 Simple 121913483 G . Pathogenic/Likely pathogenic 2 1 Carcinoma of cervix;Squamous cell carcinoma of the head and neck;Thanatophoric dysplasia type 1;Malignant tumor of urinary bladder;Keratosis, seborrheic;Squamous cell carcinoma of lung;not provided;Bladder carcinoma;Transitional cell carcinoma of the bladder;Papillary renal cell carcinoma, sporadic;Carcinoma 2017-07-24 . 0.0 . 0 -16340 Simple 4647924 G . Pathogenic 2 4 Muenke syndrome;Saethre-Chotzen syndrome;not specified;not provided;Craniosynostosis 2017-08-16 23.4 0.75 Pathogenic 0 -16342 Simple 121913485 G . Pathogenic/Likely pathogenic 2 2 Thanatophoric dysplasia type 1;not specified;not provided;Myeloproliferative disorder;Bladder carcinoma;Transitional cell carcinoma of the bladder;Papillary renal cell carcinoma, sporadic;Carcinoma 2017-08-09 12.0 0.5 Pathogenic/Likely pathogenic 0 -16384 Simple 4220 A . Benign/Likely benign, other 2 1 Afibrinogenemia, congenital;FIBRINOGEN BALTIMORE 2;not specified 2016-06-14 . 1.0 . 0 -16420 Simple 6050 C . Benign, risk factor 2 2 Familial visceral amyloidosis, Ostertag type;Venous thromboembolism, susceptibility to;Afibrinogenemia, congenital;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -16431 Simple 137854461 C . Pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -16437 Simple 137854464 T . Pathogenic/Likely pathogenic 2 2 Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;not provided 2016-12-22 8.4 1.5 Pathogenic/Likely pathogenic 0 -16439 Simple 137854466 A . Pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2017-08-10 17.4 0.6666666666666666 Pathogenic 0 -16440 Simple 137854467 A . Pathogenic 2 3 Marfan syndrome;Marfan syndrome, atypical;not provided 2017-08-03 15.0 2.3333333333333335 Pathogenic 0 -16449 Simple 112989722 A . Pathogenic/Likely pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2016-08-22 9.3 3.3333333333333335 Pathogenic/Likely pathogenic 0 -16457 Simple 137854478 T . Pathogenic 2 3 Marfan syndrome;Marfan syndrome, neonatal;Loeys-Dietz syndrome;not specified;not provided 2017-04-28 16.2 1.6666666666666667 Pathogenic 0 -16461 Simple 137854480 A . Pathogenic 2 5 Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;Acromicric dysplasia;Geleophysic dysplasia 2;not provided;Marfan lipodystrophy syndrome 2017-08-01 22.8 3.6 Pathogenic 0 -16520 Simple 6003 T . Benign, risk factor 2 1 Factor xiii, b subunit, deficiency of;Venous thrombosis, susceptibility to;not specified 2016-06-14 . 1.0 . 0 -16532 Simple 5985 A . Benign/Likely benign, protective 2 1 Factor xiii, a subunit, deficiency of;Myocardial infarction, protection against;Venous thrombosis, protection against;not specified 2016-06-14 . 1.0 . 0 -16604 Simple 1051740 C . drug response 3 0 carbamazepine response - Dosage;EPOXIDE HYDROLASE 1 POLYMORPHISM . . . . 0 -16605 Simple 2234922 G . drug response 3 0 carbamazepine response - Dosage;EPOXIDE HYDROLASE 1 POLYMORPHISM . . . . 0 -16609 Simple 121434568 G . drug response 3 0 Adenocarcinoma of lung;Non-small cell lung cancer;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic;Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic;Tyrosine kinase inhibitor response;carboplatin, docetaxel, erlotinib, gemcitabine, and paclitaxel response - Efficacy;erlotinib response - Efficacy;gefitinib response - Efficacy . . . . 0 -16613 Simple 121434569 T . drug response 3 1 Lung cancer;Non-small cell lung cancer;Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in;EGFR-related lung cancer;Tyrosine kinase inhibitor response;erlotinib response - Efficacy;gefitinib response - Efficacy . . 0.0 . 0 -16638 Simple 5352 T . Benign/Likely benign, risk factor 2 2 Hirschsprung disease 2;not specified;Hirschsprung Disease, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -16647 Simple 11570351 A . Likely benign, risk factor 2 1 Hirschsprung disease 4;not specified 2015-10-07 . 2.0 . 0 -16663 Simple 121913039 T . Pathogenic/Likely pathogenic 2 2 Mitochondrial DNA depletion syndrome 1 (MNGIE type);not provided 2017-07-19 6.0 0.5 Likely pathogenic 1 -16681 Simple 397515385 - . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-19 16.8 1.0 Pathogenic 0 -16685 Simple 869025185 - . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2016-11-30 18.0 1.0 Pathogenic 0 -16688 Simple 104894261 A . Pathogenic/Likely pathogenic 2 2 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome;Metastatic pancreatic neuroendocrine tumours 2017-11-01 10.8 1.5 Pathogenic/Likely pathogenic 0 -16692 Simple 104894267 A . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2016-11-23 10.2 2.5 Pathogenic/Likely pathogenic 1 -16693 Simple 587776841 - . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;Lipoma, somatic;not provided;Hereditary cancer-predisposing syndrome 2017-06-14 18.0 0.6666666666666666 Pathogenic 0 -16703 Simple 104894264 T . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-04-19 15.0 2.3333333333333335 Pathogenic 0 -16722 Simple 137854452 T . Pathogenic 2 2 Supravalvar aortic stenosis;not provided 2017-01-16 9.0 3.5 Pathogenic/Likely pathogenic 1 -16752 Simple 104894161 A . Pathogenic 2 2 Charcot-Marie-Tooth disease, demyelinating, type 1d;Dejerine-Sottas disease;Dejerine-sottas neuropathy, autosomal dominant;Charcot-Marie-Tooth disease, type I;not provided 2017-05-09 11.4 1.0 Pathogenic/Likely pathogenic 1 -16801 Simple 201230446 T . Pathogenic/Likely pathogenic 2 2 Miller syndrome;not provided 2016-10-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -16809 Simple 1800566 A . drug response 3 0 Lung cancer;Benzene toxicity, susceptibility to;Leukemia, post-chemotherapy, susceptibility to;Breast cancer, post-chemotherapy poor survival in;Alkylating Agents, anthracyclines and related substances, fluorouracil, and Platinum compounds response - Efficacy . . . . 0 -16810 Simple 121913006 A . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-06-09 7.8 2.5 Likely pathogenic 1 -16812 Simple 121913008 A . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-10-03 8.4 1.5 Pathogenic/Likely pathogenic 0 -16817 Simple 397514038 G . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular cardiomyopathy;not provided 2014-07-21 6.3 5.0 Likely pathogenic 1 -16826 Simple 121913003 T . Pathogenic/Likely pathogenic 2 5 Myofibrillar myopathy 1;not provided 2017-02-10 26.1 1.4 Pathogenic 1 -16850 Simple 397514042 C . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;not provided 2014-08-08 6.6 3.5 Likely pathogenic 1 -16889 Simple 3892097 T . drug response 3 0 Debrisoquine, poor metabolism of;not provided;amitriptyline response - Dosage, Toxicity/ADR;antidepressants response - Dosage, Toxicity/ADR;clomipramine response - Dosage, Toxicity/ADR;desipramine response - Dosage, Toxicity/ADR;doxepin response - Dosage, Toxicity/ADR;imipramine response - Dosage, Toxicity/ADR;nortriptyline response - Dosage, Toxicity/ADR;trimipramine response - Dosage, Toxicity/ADR;tamoxifen response - Efficacy, Toxicity/ADR . . . . 0 -16897 Simple 4244285 A . drug response 3 0 Proguanil, poor metabolism of;Mephenytoin, poor metabolism of;Clopidogrel response;not provided;amitriptyline response - Efficacy;citalopram response - Efficacy;clomipramine response - Efficacy;clopidogrel response - Efficacy, Toxicity/ADR . . . . 0 -16899 Simple 4986893 A . drug response 3 0 Proguanil, poor metabolism of;Mephenytoin, poor metabolism of;not provided;clopidogrel response - Efficacy, Toxicity/ADR . . . . 0 -16900 Simple 28399504 G . drug response 3 0 Mephenytoin, poor metabolism of;not provided;clopidogrel response - Efficacy . . . . 0 -16916 Simple 2740574 T . drug response 3 0 CYP3A4 PROMOTER POLYMORPHISM;Cyp3a4-v;tacrolimus response - Dosage . . . . 0 -16923 Simple 2834167 G . Benign, risk factor 2 2 Hepatitis b virus, susceptibility to;not specified;Inflammatory bowel disease 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -16928 Simple 11547328 A . Pathogenic/Likely pathogenic, risk factor 2 4 Malignant melanoma of skin;Multiple myeloma;Cutaneous malignant melanoma 3;Adenocarcinoma of lung;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-05-31 22.8 1.5 Pathogenic 1 -16997 Simple 267606845 A . Pathogenic/Likely pathogenic 2 2 Oculodentodigital dysplasia;not provided 2016-05-12 5.4 2.0 Likely pathogenic 1 -17002 Simple 104894396 T . Pathogenic 2 9 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, X-linked 2;Nonsyndromic hearing loss and deafness;Hearing impairment;not provided 2017-05-30 48.6 1.6666666666666667 Pathogenic 0 -17003 Simple 104894397 G . Pathogenic 2 5 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;not provided 2017-10-04 27.0 2.0 Pathogenic 0 -17004 Simple 80338939 - . Pathogenic 2 17 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, digenic, GJB2/GJB6;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment;Bilateral sensorineural hearing impairment;not provided;Bilateral conductive hearing impairment;Severe sensorineural hearing impairment;Nonsyndromic Hearing Loss, Recessive;Deafness 2017-10-12 90.0 2.0 Pathogenic 0 -17005 Simple 104894398 A . Pathogenic 2 9 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, X-linked 2;Nonsyndromic hearing loss and deafness;Hearing impairment;not provided 2017-05-18 43.8 2.5555555555555554 Pathogenic 0 -17006 Simple 80338947 - . Pathogenic 2 5 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;Hearing impairment;not provided 2017-10-20 26.400000000000002 1.8 Pathogenic 0 -17007 Simple 80338950 G . Pathogenic/Likely pathogenic 2 3 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness 2017-05-09 13.2 2.0 Pathogenic/Likely pathogenic 0 -17009 Simple 80338948 A . Pathogenic 2 7 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, X-linked 2;Nonsyndromic hearing loss and deafness;Hearing impairment;not provided 2017-06-16 39.0 1.2857142857142858 Pathogenic 0 -17014 Simple 80338943 - . Pathogenic 2 11 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Deafness, digenic, GJB2/GJB3;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment;not provided 2017-06-09 60.6 1.5454545454545454 Pathogenic 0 -17016 Simple 80338945 G . Pathogenic 2 13 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, X-linked 2;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment;Omphalocele;not provided;Horseshoe kidney;Short palpebral fissure 2017-05-25 70.8 1.6923076923076923 Pathogenic 0 -17017 Simple 104894401 T . Pathogenic/Likely pathogenic 2 3 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;not provided 2017-02-16 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -17020 Simple 28931594 T . Pathogenic 2 3 Deafness, autosomal recessive 1A;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;not provided 2015-06-16 15.0 2.6666666666666665 Pathogenic 0 -17027 Simple 28931593 T . Pathogenic 2 2 Deafness, autosomal recessive 1A;Keratoderma palmoplantar deafness;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;not provided 2016-12-22 10.8 2.0 Pathogenic/Likely pathogenic 1 -17029 Simple 80338940 T . Pathogenic 2 6 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;Hearing impairment;not provided 2017-05-09 30.6 2.3333333333333335 Pathogenic 0 -17032 Simple 104894409 G . Pathogenic 2 3 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;Hearing impairment 2017-05-09 12.6 3.6666666666666665 Pathogenic/Likely pathogenic 1 -17036 Simple 104894409 T . Pathogenic 2 3 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;not provided 2016-06-08 18.0 1.0 Pathogenic 0 -17038 Simple 41286844 A . Pathogenic 2 2 Complement component 8 deficiency type 2;not provided 2017-10-16 10.8 1.5 Pathogenic/Likely pathogenic 1 -17041 Simple 34000044 T . Pathogenic/Likely pathogenic 2 2 Complement component 9 deficiency;not provided 2017-02-28 8.4 1.5 Pathogenic/Likely pathogenic 0 -17079 Simple 63751109 T . Pathogenic 3 1 Lynch syndrome II;Lynch syndrome 2013-09-05 . 4.0 . 0 -17080 Simple 63751247 - . Pathogenic 3 10 Turcot syndrome;Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 50.82 2.4 Pathogenic 0 -17085 Simple 63750710 C . Pathogenic 3 2 Lynch syndrome II;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -17087 Simple 63751615 T . Pathogenic 3 6 Turcot syndrome;Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.02 1.1666666666666667 Pathogenic 0 -17088 Simple 63750206 T . Pathogenic 3 1 Turcot syndrome;Lynch syndrome II;Lynch syndrome 2013-09-05 . 4.0 . 0 -17089 Simple 35502531 GC . Benign 3 7 Lynch syndrome I;Lynch syndrome II;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -26.79 2.0 Benign 0 -17090 Simple 63751612 G . Benign 3 7 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -16.89 1.2857142857142858 Benign/Likely benign 1 -17094 Simple 63750781 T . Pathogenic 3 8 Lynch syndrome I;Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 44.82 1.25 Pathogenic 0 -17096 Simple 28930073 C . Benign 3 8 Colorectal cancer, sporadic, susceptibility to;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -25.32 1.25 Benign 0 -17097 Simple 63750899 T . Pathogenic 3 2 Turcot syndrome;Lynch syndrome II;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -17098 Simple 63750691 G . Pathogenic 3 1 Lynch syndrome II;Lynch syndrome 2013-09-05 . 4.0 . 0 -17099 Simple 63750217 A . Pathogenic 3 7 Lynch syndrome II;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 37.62 1.1428571428571428 Pathogenic 0 -17105 Simple 121912965 AC . Pathogenic 3 1 Turcot syndrome;Lynch syndrome II;Lynch syndrome 2013-09-05 . 4.0 . 0 -17106 Simple 63749939 A . Pathogenic 3 4 Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.5 Pathogenic 0 -17137 Simple 1676486 G . Benign, risk factor 2 4 Marshall syndrome;Fibrochondrogenesis;Lumbar disc herniation, susceptibility to;not specified;Stickler Syndrome, Dominant 2016-09-29 -24.0 1.0 Benign 0 -17139 Simple 61734651 T . Benign/Likely benign, risk factor 2 3 Multiple Epiphyseal Dysplasia, Dominant;Intervertebral disc disease, susceptibility to;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -17174 Simple 398123631 A . Pathogenic 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2017-08-16 22.8 1.0 Pathogenic 0 -17180 Simple 121912938 A . Pathogenic 2 6 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided;Ullrich congenital muscular dystrophy 1, autosomal dominant 2017-09-13 36.0 0.5 Pathogenic 0 -17205 Simple 1800255 A . Benign 2 6 Ehlers-Danlos syndrome, type 4;COLLAGEN TYPE III POLYMORPHISM;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-07 -30.0 2.5 Benign 0 -17228 Simple 121912926 A . Pathogenic 2 2 Ehlers-Danlos syndrome, type 4;not provided 2017-05-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -17312 Simple 72645357 T . Pathogenic 2 2 Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta type III;Osteogenesis imperfecta;not provided 2015-08-14 8.4 4.0 Pathogenic/Likely pathogenic 1 -17361 Simple 121912870 T . Pathogenic/Likely pathogenic 2 2 Spondyloepiphyseal dysplasia congenita;not provided 2017-02-16 8.7 1.5 Pathogenic/Likely pathogenic 0 -17379 Simple 121912882 A . Pathogenic 2 2 Epiphyseal dysplasia, multiple, with myopia and conductive deafness;not provided;Myopia 2017-06-22 10.8 1.5 Pathogenic/Likely pathogenic 1 -17463 Simple 121912855 A . Pathogenic 2 2 Epidermolysis bullosa dystrophica inversa, autosomal recessive;Short stature;Failure to thrive;not provided;Abnormality of the teeth;Microcephaly;Abnormality of dental enamel;Hyperpigmentation of the skin;Alopecia of scalp;Distal muscle weakness;EMG abnormality;Decreased body weight;Scarring alopecia of scalp;Abnormal blistering of the skin;Nail dystrophy;Scarring 2017-06-14 11.4 1.0 Pathogenic/Likely pathogenic 1 -17503 Simple 1051730 A . drug response 3 0 Smoking as a quantitative trait locus 3;Lung cancer susceptibility 2;nicotine response - Toxicity/ADR . . . . 0 -17531 Simple 121912799 G . Pathogenic 2 5 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;not provided 2017-10-05 28.2 1.4 Pathogenic 0 -17532 Simple 80356700 A . Pathogenic 2 3 Congenital myotonia, autosomal dominant form;Myotonia congenita;not provided 2017-07-17 17.4 0.6666666666666666 Pathogenic 0 -17538 Simple 80356696 G . Pathogenic/Likely pathogenic 2 2 Myotonia levior;Myotonia congenita;not provided 2017-05-11 9.0 0.5 Pathogenic/Likely pathogenic 0 -17591 Simple 4680 A . drug response 3 0 CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM;not specified;nicotine response - Efficacy . . . . 0 -17614 Simple 121434544 A . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2017-05-24 17.4 1.0 Pathogenic 0 -17617 Simple 121434547 T . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;not provided 2016-01-14 10.8 2.0 Pathogenic/Likely pathogenic 0 -17618 Simple 80338804 TCATCT . Pathogenic 2 6 Limb-girdle muscular dystrophy, type 2A;Myositis, eosinophilic;not provided 2017-05-02 33.0 1.6666666666666667 Pathogenic 0 -17620 Simple 80338803 AA . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;not provided;CAPN3-Related Disorders 2017-03-15 15.0 0.6666666666666666 Pathogenic 1 -17621 Simple 80338800 - . Pathogenic 2 9 Limb-girdle muscular dystrophy, type 2A;Muscle weakness;not provided;Arrhythmia;Elbow flexion contracture;EMG: myopathic abnormalities;Shoulder girdle muscle weakness;Muscular dystrophy;Congenital muscular dystrophy;Contractures of the joints of the lower limbs;Calf muscle hypertrophy;Limb-Girdle Muscular Dystrophy, Recessive 2017-11-06 49.2 1.7777777777777777 Pathogenic 0 -17622 Simple 121434548 A . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;CAPN3-Related Disorders 2016-06-14 16.8 1.6666666666666667 Pathogenic 0 -17623 Simple 28930068 T . Pathogenic 2 3 Hypokalemic periodic paralysis 1;not provided 2017-03-01 18.0 1.0 Pathogenic 0 -17625 Simple 80338777 T . Pathogenic 2 3 Hypokalemic periodic paralysis 1;not provided 2017-07-31 18.0 0.3333333333333333 Pathogenic 0 -17632 Simple 79891110 A . Pathogenic 2 2 Timothy syndrome;Long QT syndrome;not provided;Congenital long QT syndrome 2017-04-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -17661 Simple 28897672 C . Pathogenic 3 20 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Breast carcinoma 2015-08-10 106.14 1.75 Pathogenic 0 -17662 Simple 386833395 - . Pathogenic 3 22 Familial cancer of breast;Breast-ovarian cancer, familial 1;Pancreatic cancer 4;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 124.8 1.2727272727272727 Pathogenic 0 -17665 Simple 80359874 . . Pathogenic 3 13 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 72.6 1.4615384615384615 Pathogenic 0 -17666 Simple 80357780 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -17667 Simple 80357971 - . Pathogenic 3 11 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 63.6 1.2727272727272727 Pathogenic 0 -17669 Simple 80357601 - . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 51.6 1.4444444444444444 Pathogenic 0 -17670 Simple 4986852 T . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -80.94 2.176470588235294 Benign 0 -17671 Simple 62625308 A . Pathogenic 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 86.4 1.2 Pathogenic 0 -17672 Simple 28897686 A . Pathogenic 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 73.2 1.4615384615384615 Pathogenic 0 -17673 Simple 80357868 - . Pathogenic 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 60.6 1.2727272727272727 Pathogenic 0 -17674 Simple 80357508 - . Pathogenic 3 14 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 78.0 1.2142857142857142 Pathogenic 0 -17675 Simple 41293455 A . Pathogenic 3 20 Familial cancer of breast;Breast-ovarian cancer, familial 1;Pancreatic cancer 4;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 115.8 1.15 Pathogenic 0 -17677 Simple 80357906 GG . Pathogenic 3 24 Familial cancer of breast;Porokeratosis punctata palmaris et plantaris;Breast-ovarian cancer, familial 1;Pancreatic cancer, susceptibility to;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Ovarian neoplasm;604370 2016-04-22 132.0 1.5 Pathogenic 0 -17679 Simple 80359884 . . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -17681 Simple 1800709 A . Benign 3 16 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -74.94 2.0625 Benign 0 -17682 Simple 62625306 A . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 36.6 1.8571428571428572 Pathogenic 0 -17683 Simple 80357919 - . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 52.8 1.6 Pathogenic 0 -17684 Simple 80357877 - . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 51.0 1.4444444444444444 Pathogenic 0 -17685 Simple 80357662 - . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 43.800000000000004 1.875 Pathogenic 0 -17693 Simple 80357382 C . Pathogenic/Likely pathogenic 2 12 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-18 66.0 1.3333333333333333 Pathogenic 1 -17694 Simple 41293463 C . Pathogenic 3 11 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 58.440000000000005 1.6363636363636365 Pathogenic 0 -17695 Simple 41293463 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-08-10 11.34 2.0 Pathogenic/Likely pathogenic 1 -17697 Simple 6265 T . Benign, protective, risk factor 2 1 Bulimia nervosa 2;Anorexia nervosa 2;Bipolar affective disorder, susceptibility to;Memory impairment, susceptibility to;Obsessive-compulsive disorder, protection against;Parkinson disease, age at onset, susceptibility to;not specified;Parkinson disease 2017-06-02 . 4.0 . 0 -17848 Simple 7412 T . drug response 3 0 Familial type 3 hyperlipoproteinemia;not provided;atorvastatin response - Efficacy . . . . 0 -17955 Simple 6647 G . Benign/Likely benign 2 3 PI M1-ALA213;PI, M1A;Alpha-1-antitrypsin deficiency;not specified 2016-07-15 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -17957 Simple 709932 T . Benign/Likely benign, other 2 3 PI M2;PI M4;Alpha-1-antitrypsin deficiency;not specified 2016-08-25 -14.4 1.3333333333333333 Benign/Likely benign 0 -17958 Simple 1303 G . Benign/Likely benign, other 2 2 PI M3;Alpha-1-antitrypsin deficiency;not specified 2016-07-15 -7.2 2.5 Likely benign 1 -17967 Simple 28929474 T . Pathogenic, other 2 8 FRAXE;PI Z;PI Z(AUGSBURG);PI Z(TUN);Alpha-1-antitrypsin deficiency;not provided 2017-07-05 43.8 1.75 Pathogenic 0 -17969 Simple 17580 A . Pathogenic, other 2 4 PI S;Alpha-1-antitrypsin deficiency;not provided 2017-10-23 24.0 0.5 Pathogenic 0 -17994 Simple 121912707 G . Pathogenic/Likely pathogenic 2 7 Pyridoxine-dependent epilepsy;not provided 2017-10-25 35.7 1.5714285714285714 Pathogenic 1 -17995 Simple 121912708 A . Pathogenic 2 3 Pyridoxine-dependent epilepsy;Seizures;not provided;Ventriculomegaly 2017-06-28 16.8 1.3333333333333333 Pathogenic 0 -18068 Simple 699 G . Benign, risk factor 2 1 Renal dysplasia;Hypertension, essential, susceptibility to;Preeclampsia, susceptibility to;Susceptibility to progression to renal failure in IgA nephropathy;not specified 2016-06-14 . 1.0 . 0 -18115 Simple 121912691 C . Pathogenic 2 4 Cystinuria;not provided 2017-05-18 21.0 2.0 Pathogenic 0 -18162 Simple 121434529 T . Pathogenic 2 3 Schindler disease, type 1;not provided;Alpha-N-acetylgalactosaminidase deficiency 2017-03-29 18.0 0.6666666666666666 Pathogenic 0 -18249 Simple 121912683 A . Pathogenic/Likely pathogenic 2 2 not provided;Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive 2017-09-08 9.0 0.5 Pathogenic/Likely pathogenic 0 -18274 Simple 4961 T . drug response 3 0 Hypertension, salt-sensitive essential, susceptibility to;furosemide and spironolactone response - Efficacy . . . . 0 -18276 Simple 121434526 A . Pathogenic 2 3 Aortic aneurysm, familial thoracic 2;Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection;not provided 2017-07-31 18.0 0.3333333333333333 Pathogenic 0 -18277 Simple 121434527 T . Pathogenic 2 2 Aortic aneurysm, familial thoracic 6;Moyamoya disease 5;not provided 2016-10-21 12.0 1.0 Pathogenic/Likely pathogenic 1 -18278 Simple 121434528 A . Pathogenic/Likely pathogenic 2 3 Aortic aneurysm, familial thoracic 6;Moyamoya disease 5;Thoracic aortic aneurysm and aortic dissection;not provided 2017-08-01 14.4 1.0 Pathogenic/Likely pathogenic 0 -18331 Simple 193922680 T . Pathogenic/Likely pathogenic 2 4 Familial hypertrophic cardiomyopathy 11;Primary familial hypertrophic cardiomyopathy;Left ventricular noncompaction 4;not provided 2017-05-07 19.8 2.25 Pathogenic 1 -18348 Simple 879255562 - . Pathogenic 2 2 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency;not provided 2017-03-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -18443 Simple 786205084 A . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B 2016-08-09 22.2 1.75 Pathogenic 0 -18454 Simple 267607032 A . Pathogenic/Likely pathogenic 2 5 Paragangliomas 4;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-07-24 20.7 0.6 Pathogenic 1 -21012 Simple 8064573 A . Benign/Likely benign 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2017-06-20 -13.2 1.6666666666666667 Benign/Likely benign 0 -21015 Simple 2230178 A . Benign/Likely benign 2 4 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2017-08-01 -20.4 0.75 Benign/Likely benign 0 -21016 Simple 2309689 A . Pathogenic 2 5 Very long chain acyl-CoA dehydrogenase deficiency;not specified;not provided 2017-06-16 27.0 1.6 Pathogenic 0 -21018 Simple 2230180 A . Benign/Likely benign 2 4 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2017-07-11 -18.6 1.75 Benign/Likely benign 0 -21019 Simple 113994171 A . Pathogenic/Likely pathogenic 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2017-06-26 14.4 1.0 Pathogenic/Likely pathogenic 0 -21022 Simple 2230179 T . Benign/Likely benign 2 5 Very long chain acyl-CoA dehydrogenase deficiency;not specified;not provided 2017-07-21 -26.4 1.0 Benign 1 -21023 Simple 34153370 A . Benign/Likely benign 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2017-09-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -21024 Simple 113994168 T . Pathogenic/Likely pathogenic 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2016-12-30 14.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -21025 Simple 113994167 C . Pathogenic 2 10 Very long chain acyl-CoA dehydrogenase deficiency;not specified;not provided 2017-09-21 58.2 0.9 Pathogenic 0 -21030 Simple 459552 A . Benign, other 2 7 Familial colorectal cancer;Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-10 -37.2 2.0 Benign 0 -21047 Simple 80356687 T . Pathogenic/Likely pathogenic 2 2 Myotonia congenita;not provided 2016-03-23 8.7 1.5 Pathogenic/Likely pathogenic 0 -21050 Simple 80356701 C . Pathogenic/Likely pathogenic 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not provided 2016-05-12 10.8 2.0 Pathogenic/Likely pathogenic 0 -21052 Simple 80356692 A . Pathogenic 2 2 Myotonia congenita;not provided 2016-05-09 11.4 1.5 Pathogenic/Likely pathogenic 1 -21054 Simple 80338894 T . Pathogenic 2 2 Tyrosinemia type I;not provided 2015-12-21 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -21058 Simple 80338898 T . Pathogenic/Likely pathogenic 2 3 Tyrosinemia type I;not provided 2017-06-16 13.2 1.6666666666666667 Pathogenic/Likely pathogenic 0 -21062 Simple 80356479 - . Pathogenic 2 4 Glycogen storage disease, type I;Glycogen storage disease type 1A;not provided 2017-04-15 22.8 1.25 Pathogenic 0 -21063 Simple 80356483 T . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease type 1A 2016-08-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -21065 Simple 80338735 T . Pathogenic 2 2 Deficiency of guanidinoacetate methyltransferase;not provided 2017-03-01 12.0 1.0 Pathogenic/Likely pathogenic 1 -21068 Simple 17851582 A . Benign/Likely benign 2 4 Deficiency of guanidinoacetate methyltransferase;Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -21081 Simple 116840818 A . Pathogenic 2 2 X-linked hereditary motor and sensory neuropathy;not provided 2016-03-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -21084 Simple 116840815 T . Pathogenic 2 3 X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X;not provided 2016-08-24 18.0 1.0 Pathogenic 0 -21094 Simple 2296434 C . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;Hermansky-Pudlak syndrome 1;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -21099 Simple 2296436 C . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;Hermansky-Pudlak syndrome 1;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -21108 Simple 11592273 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;Hermansky-Pudlak syndrome 1;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -21124 Simple 193929377 - . Pathogenic 2 2 Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young, type 4;Pancreatic agenesis, congenital;not provided 2017-01-25 12.0 1.0 Pathogenic/Likely pathogenic 1 -21135 Simple 1805082 C . Benign/Likely benign 2 3 Niemann-Pick disease type C1;Niemann-Pick disease, type C;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -21136 Simple 1140458 A . Benign/Likely benign 2 2 Niemann-Pick disease type C1;Niemann-Pick disease, type C;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -21137 Simple 80358254 T . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease type C1;not provided 2016-10-21 8.4 2.0 Pathogenic/Likely pathogenic 0 -21140 Simple 1805084 T . Benign/Likely benign 2 2 Niemann-Pick disease type C1;Niemann-Pick disease, type C;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -21142 Simple 80358251 A . Benign/Likely benign 2 3 Niemann-Pick disease type C1;not specified 2017-01-27 -13.8 2.0 Benign/Likely benign 0 -21143 Simple 80338703 A . Pathogenic 2 2 Carbohydrate-deficient glycoprotein syndrome type I;not provided 2017-02-07 10.8 2.0 Pathogenic/Likely pathogenic 1 -21145 Simple 80338708 T . Pathogenic/Likely pathogenic 2 4 Carbohydrate-deficient glycoprotein syndrome type I;not provided 2017-08-24 19.8 1.25 Pathogenic 1 -21153 Simple 62070884 T . Benign/Likely benign 2 12 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;not provided;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-04 -51.0 1.25 Benign 1 -21154 Simple 41280102 G . Benign/Likely benign 2 9 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-11 -37.2 1.1111111111111112 Benign 1 -21162 Simple 80338952 A . Benign/Likely benign 2 9 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;not provided;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-02 -34.8 1.0 Benign 1 -21164 Simple 2229989 T . Benign 2 2 Camptomelic dysplasia;not specified 2016-06-28 -12.0 1.0 Benign/Likely benign 1 -21176 Simple 113994200 - . Pathogenic 2 2 Lissencephaly 1;not provided 2015-12-30 9.0 3.5 Pathogenic/Likely pathogenic 1 -21180 Simple 113994198 - . Pathogenic 2 2 Lissencephaly 1;not provided 2017-02-21 9.6 3.0 Pathogenic/Likely pathogenic 1 -21181 Simple 113994199 AA . Pathogenic 2 3 Lissencephaly 1;not provided 2016-08-31 15.0 2.6666666666666665 Pathogenic 0 -21182 Simple 113994202 C . Pathogenic 2 2 Lissencephaly 1;not provided 2017-06-16 9.6 2.5 Pathogenic/Likely pathogenic 1 -21184 Simple 743616 C . Benign 2 2 Metachromatic leukodystrophy;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -21187 Simple 80338819 G . Pathogenic 2 2 Metachromatic leukodystrophy;not provided 2016-08-02 11.4 1.5 Pathogenic/Likely pathogenic 1 -21191 Simple 33914668 C . Pathogenic 2 4 beta Thalassemia;not specified;not provided 2017-06-30 23.4 0.75 Pathogenic 0 -21234 Simple 80359862 G . Pathogenic/Likely pathogenic 2 2 Roberts-SC phocomelia syndrome;not provided 2017-09-08 6.6 2.5 Likely pathogenic 1 -21240 Simple 4732748 T . Benign/Likely benign 2 2 Roberts-SC phocomelia syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -21253 Simple 367543005 T . Pathogenic 2 3 Argininosuccinate lyase deficiency;not provided 2016-09-09 18.0 1.0 Pathogenic 0 -21255 Simple 34432513 C . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type IIB;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-28 -14.4 1.0 Benign/Likely benign 0 -21256 Simple 61733811 G . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type IIB;Hereditary sensory and autonomic neuropathy type II;not specified 2017-08-02 -14.4 1.0 Benign/Likely benign 0 -21272 Simple 80338862 T . Pathogenic 2 3 Smith-Lemli-Opitz syndrome;not provided 2017-07-11 15.600000000000001 2.0 Pathogenic 0 -21275 Simple 80338856 A . Pathogenic/Likely pathogenic 2 4 Smith-Lemli-Opitz syndrome;not provided 2017-05-26 20.1 1.25 Pathogenic 1 -21304 Simple 1126821 A . Benign/Likely benign 2 6 Naxos disease;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -21.6 3.3333333333333335 Benign/Likely benign 0 -21309 Simple 2307447 A . Benign 2 2 Progressive sclerosing poliodystrophy;Mitochondrial diseases;not specified 2017-08-07 -10.2 2.0 Benign/Likely benign 1 -21310 Simple 2307450 T . Benign/Likely benign 2 5 Progressive sclerosing poliodystrophy;Mitochondrial diseases;not specified;not provided;POLG-Related Spectrum Disorders 2017-08-14 -22.8 2.2 Benign/Likely benign 0 -21312 Simple 2307441 C . Benign/Likely benign 2 6 Progressive sclerosing poliodystrophy;Fanconi anemia;Mitochondrial diseases;not specified 2017-08-07 -28.2 1.3333333333333333 Benign 1 -21316 Simple 3087374 A . Benign/Likely benign 2 4 Fanconi anemia;Mitochondrial diseases;not specified;POLG-Related Spectrum Disorders 2016-06-14 -16.2 1.75 Benign/Likely benign 0 -21323 Simple 80338730 A . Benign/Likely benign 2 7 Arts syndrome;Phosphoribosylpyrophosphate synthetase superactivity;Charcot-Marie-Tooth Neuropathy X;not specified;Charcot-Marie-Tooth, X-linked;Nonsyndromic Hearing Loss, X-Linked 2017-02-24 -26.1 1.2857142857142858 Benign 1 -21324 Simple 1049331 T . Benign/Likely benign 2 3 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Macular degeneration 2017-06-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -21325 Simple 2293870 C . Benign/Likely benign 2 3 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Macular degeneration 2017-06-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -21326 Simple 2293870 T . Benign/Likely benign 2 3 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Macular degeneration 2017-06-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -21342 Simple 80338799 A . Pathogenic 3 3 Noonan syndrome with multiple lentigines;Noonan syndrome;not provided;Rasopathy 2017-04-03 16.8 1.6666666666666667 Pathogenic 0 -21354 Simple 3125630 A . Benign/Likely benign 2 1 Primary autosomal recessive microcephaly 7;not specified;Primary Microcephaly, Recessive 2016-06-14 . 1.0 . 0 -21357 Simple 3766317 A . Benign/Likely benign 2 2 Primary autosomal recessive microcephaly 7;not specified 2015-06-02 -5.4 2.0 Likely benign 1 -21369 Simple 2075674 A . Benign 2 1 Hemochromatosis type 3;not specified;Hereditary hemochromatosis 2016-06-14 . 1.0 . 0 -21378 Simple 34242818 C . Benign/Likely benign 2 2 Hemochromatosis type 3;Hemochromatosis type 1;Hereditary hemochromatosis 2016-11-07 -9.0 1.0 Benign/Likely benign 0 -21387 Simple 1801002 A . Pathogenic/Likely pathogenic 2 6 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment 2016-12-21 21.6 2.8333333333333335 Pathogenic 1 -21409 Simple 2303995 C . Benign/Likely benign 2 4 Benign familial neonatal seizures 2;Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2017-08-11 -21.0 2.0 Benign/Likely benign 0 -21460 Simple 12849161 T . Benign 2 2 Allan-Herndon-Dudley syndrome;not specified;Spastic paraplegia 2016-07-31 -9.6 3.0 Benign/Likely benign 1 -21462 Simple 6647476 C . Benign 2 2 Allan-Herndon-Dudley syndrome;not specified 2014-07-30 -8.4 4.0 Benign/Likely benign 1 -21493 Simple 80338795 C . Pathogenic/Likely pathogenic 2 2 Salla disease;not provided 2015-04-30 7.800000000000001 2.5 Likely pathogenic 1 -21518 Simple 34676691 A . Benign/Likely benign 2 2 Majeed syndrome;not specified 2017-04-04 -9.0 0.5 Benign/Likely benign 0 -21521 Simple 11568188 C . Benign/Likely benign 2 1 Megalencephalic leukoencephalopathy with subcortical cysts 1;not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -21524 Simple 6010260 A . Benign/Likely benign 2 1 Megalencephalic leukoencephalopathy with subcortical cysts 1;not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -21525 Simple 41302601 T . Benign/Likely benign 2 2 Megalencephalic leukoencephalopathy with subcortical cysts 1;not provided 2017-01-31 -5.4 2.0 Likely benign 1 -21533 Simple 35629585 A . Benign/Likely benign 2 3 Spastic paraplegia 3;not specified;Spastic Paraplegia, Dominant 2016-08-30 -14.4 1.3333333333333333 Benign/Likely benign 0 -21534 Simple 35014209 G . Benign/Likely benign 2 3 Spastic paraplegia 3;Hereditary sensory neuropathy type 1D;not specified;Spastic Paraplegia, Dominant 2017-04-30 -16.2 1.6666666666666667 Benign/Likely benign 0 -21537 Simple 1061695 C . Benign 2 1 Shwachman syndrome;not specified 2016-12-05 . 1.0 . 0 -21538 Simple 113993992 G . Pathogenic 2 2 Shwachman syndrome;not provided 2016-07-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -21543 Simple 79344818 G . Benign/Likely benign 2 3 Shwachman syndrome;not specified 2016-12-05 -14.4 1.3333333333333333 Benign/Likely benign 0 -21544 Simple 73151675 A . Benign 2 2 Shwachman syndrome;not specified 2017-03-29 -12.0 0.5 Benign/Likely benign 1 -21546 Simple 141298312 A . Benign/Likely benign 2 2 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;not specified 2017-06-07 -9.0 0.5 Benign/Likely benign 0 -21547 Simple 35515638 G . Benign/Likely benign 2 2 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -21553 Simple 6428388 C . Benign/Likely benign 2 4 Primary autosomal recessive microcephaly 5;not specified;not provided;Primary Microcephaly, Recessive 2017-04-19 -18.0 2.0 Benign/Likely benign 0 -21560 Simple 199422147 - . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2014-05-09 8.4 4.0 Pathogenic/Likely pathogenic 1 -21561 Simple 17550662 G . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-08-02 -12.6 2.0 Benign/Likely benign 0 -21567 Simple 113161395 G . Benign 2 2 Primary autosomal recessive microcephaly 5;not specified 2016-08-24 -9.6 3.0 Benign/Likely benign 1 -21573 Simple 6676084 T . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-08-02 -12.6 2.0 Benign/Likely benign 0 -21575 Simple 16841081 A . Benign/Likely benign 2 4 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2016-06-14 -16.8 2.75 Benign/Likely benign 0 -21578 Simple 4915337 T . Benign/Likely benign 2 2 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -21586 Simple 2878749 C . Benign 2 4 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-08-02 -21.0 2.0 Benign/Likely benign 1 -21593 Simple 41310925 C . Benign 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-08-02 -15.6 2.0 Benign/Likely benign 1 -21599 Simple 964201 G . Benign 2 5 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2016-06-14 -21.6 3.8 Benign/Likely benign 1 -21602 Simple 1412640 C . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-08-02 -16.2 1.6666666666666667 Benign/Likely benign 0 -21603 Simple 10922162 T . Benign 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -21604 Simple 41308365 A . Benign 2 4 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-08-02 -19.8 2.5 Benign/Likely benign 1 -21605 Simple 41310927 C . Benign 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-08-02 -15.6 2.0 Benign/Likely benign 1 -21606 Simple 199422173 - . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2017-05-16 10.2 2.0 Pathogenic/Likely pathogenic 1 -21609 Simple 12138336 G . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -21611 Simple 3762271 T . Benign 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-08-02 -15.6 2.0 Benign/Likely benign 1 -21625 Simple 36004306 C . Benign/Likely benign 2 4 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2016-06-14 -16.8 2.75 Benign/Likely benign 0 -21634 Simple 199422194 A . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2017-04-14 9.6 2.5 Pathogenic/Likely pathogenic 1 -21635 Simple 199422195 A . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2016-08-08 9.6 3.0 Pathogenic/Likely pathogenic 1 -21638 Simple 7528827 C . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 5;not specified;not provided 2017-04-19 -9.6 2.0 Benign/Likely benign 0 -21642 Simple 41296081 G . Benign 2 2 Primary autosomal recessive microcephaly 3;not specified 2016-07-14 -9.6 3.0 Benign/Likely benign 1 -21645 Simple 34523498 T . Benign 2 1 Primary autosomal recessive microcephaly 3;not specified 2013-02-08 . 5.0 . 0 -21646 Simple 3780679 G . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 3;not specified;Primary Microcephaly, Recessive 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -21651 Simple 4837768 G . Benign/Likely benign 2 1 Primary autosomal recessive microcephaly 3;not specified;Primary Microcephaly, Recessive 2016-06-14 . 1.0 . 0 -21652 Simple 35909061 A . Benign/Likely benign 2 2 Primary autosomal recessive microcephaly 3;not specified 2016-05-03 -9.0 1.0 Benign/Likely benign 0 -21657 Simple 4836822 G . Benign/Likely benign 2 1 Primary autosomal recessive microcephaly 3;not specified;Primary Microcephaly, Recessive 2016-06-14 . 1.0 . 0 -21659 Simple 17081389 C . Benign/Likely benign 2 5 Primary autosomal recessive microcephaly 6;Seckel syndrome;not specified;Primary Microcephaly, Recessive 2017-06-26 -18.6 2.0 Benign/Likely benign 0 -21660 Simple 7336216 G . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 6;Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -21661 Simple 17402892 C . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 6;Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -21666 Simple 35498994 C . Benign 2 5 Primary autosomal recessive microcephaly 6;Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -24.0 3.0 Benign 0 -21669 Simple 16991547 A . Benign/Likely benign 2 4 Bardet-Biedl syndrome;McKusick Kaufman syndrome;not specified;not provided 2016-07-07 -23.4 1.25 Benign/Likely benign 0 -21671 Simple 17852625 A . Benign/Likely benign 2 4 Bardet-Biedl syndrome;McKusick Kaufman syndrome;not specified;not provided 2016-07-07 -17.4 1.25 Benign/Likely benign 0 -21681 Simple 80356647 C . Benign/Likely benign 2 2 Parathyroid carcinoma;Hyperparathyroidism 2 2017-07-27 -5.7 1.0 Likely benign 1 -21702 Simple 1057090 T . Benign 2 4 Primary autosomal recessive microcephaly 1;not specified;Primary Microcephaly, Recessive 2017-08-02 -20.4 2.25 Benign/Likely benign 1 -21703 Simple 1057091 T . Benign/Likely benign 2 4 Primary autosomal recessive microcephaly 1;not specified;Primary Microcephaly, Recessive 2017-08-02 -18.0 2.0 Benign/Likely benign 0 -21705 Simple 930557 C . Benign/Likely benign 2 2 Primary autosomal recessive microcephaly 1;not specified;Primary Microcephaly, Recessive 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -21709 Simple 3826860 G . Benign/Likely benign 2 3 3-Methylglutaconic aciduria type 3;Optic atrophy and cataract, autosomal dominant;not specified;not provided;Optic Atrophy, Dominant 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -21726 Simple 3735231 C . Benign 2 1 Hypomyelination and Congenital Cataract;not specified 2016-06-14 . 1.0 . 0 -21727 Simple 13010627 A . Benign/Likely benign 2 2 Autoimmune lymphoproliferative syndrome;Autoimmune lymphoproliferative syndrome, type 2A;Autoimmune lymphoproliferative syndrome type 2 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -21728 Simple 17860405 G . Benign 2 2 Autoimmune lymphoproliferative syndrome;Autoimmune lymphoproliferative syndrome, type 2A;Autoimmune lymphoproliferative syndrome type 2 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -21734 Simple 2277598 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified;not provided 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -21735 Simple 113678046 C . Benign/Likely benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -21747 Simple 12917189 C . Benign 2 1 Congenital dyserythropoietic anemia, type I;not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -21749 Simple 8023524 A . Benign 2 1 Congenital dyserythropoietic anemia, type I;not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -21751 Simple 4265781 A . Benign 2 1 Congenital dyserythropoietic anemia, type I;not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -21762 Simple 118192226 A . Pathogenic 2 3 Benign familial neonatal seizures 1;not provided;Early infantile epileptic encephalopathy 2017-07-19 18.0 0.6666666666666666 Pathogenic 0 -21769 Simple 118192235 T . Pathogenic/Likely pathogenic 2 2 Benign familial neonatal seizures 1;not provided;Epileptic encephalopathy 2016-11-16 6.0 1.0 Likely pathogenic 1 -21774 Simple 118192185 C . Pathogenic/Likely pathogenic 2 2 Benign familial neonatal seizures 1;not provided;Early infantile epileptic encephalopathy 2017-09-28 9.0 0.5 Pathogenic/Likely pathogenic 0 -21779 Simple 1801475 G . Benign 2 5 Benign familial neonatal seizures 1;not specified;KCNQ2-Related Disorders 2017-04-26 -26.4 2.0 Benign 0 -21824 Simple 1879761 A . Benign/Likely benign 2 3 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 3.0 Benign/Likely benign 0 -21826 Simple 55676840 T . Benign 2 1 Deafness, autosomal recessive 9;not specified 2011-04-26 . 7.0 . 0 -21828 Simple 72853741 A . Benign 2 1 Deafness, autosomal recessive 9;not specified 2011-04-26 . 7.0 . 0 -21829 Simple 13004993 A . Benign/Likely benign 2 2 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 5.5 Likely benign 1 -21833 Simple 80356569 A . Benign 2 1 Deafness, autosomal recessive 9;not specified 2011-04-26 . 8.0 . 0 -21836 Simple 13031859 A . Benign/Likely benign 2 2 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 6.0 Likely benign 1 -21837 Simple 80356570 A . Benign 2 3 Deafness, autosomal recessive 9;not specified 2015-11-16 -13.8 4.666666666666667 Benign/Likely benign 1 -21838 Simple 2272069 C . Benign/Likely benign 2 3 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 4.333333333333333 Benign/Likely benign 0 -21839 Simple 4335905 G . Benign 2 2 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 6.0 Benign/Likely benign 1 -21847 Simple 11687696 C . Benign/Likely benign 2 2 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 6.0 Likely benign 1 -21853 Simple 2272071 T . Benign/Likely benign 2 2 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 5.5 Likely benign 1 -21854 Simple 80356578 A . Benign/Likely benign 2 3 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -10.8 3.6666666666666665 Benign/Likely benign 0 -21856 Simple 17005371 A . Benign/Likely benign 2 3 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 4.0 Benign/Likely benign 0 -21857 Simple 61747275 A . Benign 2 1 Deafness, autosomal recessive 9;not specified 2011-04-26 . 10.0 . 0 -21858 Simple 45442103 A . Benign 2 1 Deafness, autosomal recessive 9;not specified 2011-04-26 . 10.0 . 0 -21864 Simple 41288779 T . Benign/Likely benign 2 2 Deafness, autosomal recessive 9;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 6.0 Likely benign 1 -21866 Simple 6356 T . Benign 2 2 Segawa syndrome, autosomal recessive;not specified 2017-04-14 -12.0 0.5 Benign/Likely benign 1 -24398 Simple 2272946 G . Benign 2 1 Alport syndrome, X-linked recessive;not specified 2016-04-07 . 1.0 . 0 -24455 Simple 104886142 A . Pathogenic 2 3 Alport syndrome, X-linked recessive;not provided;Hypertension;Mild proteinuria;Glomerulopathy 2017-05-11 16.8 1.3333333333333333 Pathogenic 0 -24481 Simple 7884085 C . Benign 2 1 Alport syndrome, X-linked recessive;not specified 2016-04-07 . 1.0 . 0 -24563 Simple 1006269 G . Benign 2 1 Alport syndrome, X-linked recessive;not specified 2016-08-15 . 1.0 . 0 -24799 Simple 145988618 A . Benign/Likely benign 2 9 Myhre syndrome;Juvenile polyposis syndrome;Osler hemorrhagic telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-08-11 -33.6 1.3333333333333333 Benign 1 -24804 Simple 377767328 - . Pathogenic 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -24832 Simple 377767347 A . Pathogenic/Likely pathogenic 2 2 Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;JP and JP/HHT;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Carcinoma of esophagus;Colorectal Neoplasms;Uterine cervical neoplasms;Adenocarcinoma of stomach 2017-08-03 12.0 0.5 Pathogenic/Likely pathogenic 0 -24850 Simple 377767360 T . Pathogenic 2 3 Juvenile polyposis syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-16 17.4 1.0 Pathogenic 0 -24881 Simple 377767388 A . Uncertain significance 2 3 Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;Hereditary cancer-predisposing syndrome 2017-07-26 -0.84 1.3333333333333333 Uncertain significance 0 -24887 Simple 75873440 A . Uncertain significance 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;Hereditary cancer-predisposing syndrome 2017-07-09 -1.1400000000000001 1.25 Uncertain significance 0 -24898 Simple 377767397 A . Pathogenic 2 2 MEN2A and FMTC;not provided;Hereditary cancer-predisposing syndrome 2017-06-17 11.4 1.0 Pathogenic/Likely pathogenic 1 -24901 Simple 79781594 A . Pathogenic/Likely pathogenic 2 2 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia, type 2b;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;Hereditary cancer-predisposing syndrome 2017-08-01 12.0 0.5 Pathogenic/Likely pathogenic 0 -24902 Simple 79781594 T . Pathogenic 2 3 Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not provided;Hereditary cancer-predisposing syndrome 2017-09-26 18.0 0.3333333333333333 Pathogenic 0 -24905 Simple 77316810 G . Pathogenic 2 2 MEN2A and Unclassified;not specified;Hereditary cancer-predisposing syndrome 2017-01-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -24913 Simple 377767406 A . Uncertain significance 2 2 MEN2 phenotype: Unknown;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -24920 Simple 377767407 A . Uncertain significance 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;not specified 2017-02-14 -1.1400000000000001 1.5 Uncertain significance 0 -24934 Simple 1799939 A . Benign/Likely benign 2 9 Pheochromocytoma;Renal adysplasia;No MEN2 disease;not specified;not provided;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2016-10-31 -37.2 1.8888888888888888 Benign 1 -24935 Simple 1800861 G . Benign 2 3 Multiple endocrine neoplasia, type 2;No MEN2 disease;not specified 2017-08-22 -15.6 2.0 Benign/Likely benign 1 -24939 Simple 377767417 A . Uncertain significance 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;Hereditary cancer-predisposing syndrome 2017-09-05 -1.1400000000000001 1.0 Uncertain significance 0 -24943 Simple 377767420 A . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;MEN2 phenotype: Unknown;Hereditary cancer-predisposing syndrome 2017-06-14 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -24946 Simple 1800862 T . Benign/Likely benign 2 10 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;No MEN2 disease;not specified;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-08-14 -44.4 1.5 Benign 1 -24951 Simple 55947360 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;Hereditary cancer-predisposing syndrome 2017-02-21 -0.5700000000000001 1.5 Uncertain significance 0 -24952 Simple 55947360 T . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown 2016-09-20 -0.8999999999999999 1.0 Uncertain significance 0 -24956 Simple 2472737 A . Benign 2 2 No MEN2 disease;not specified 2016-09-21 -9.6 3.0 Benign/Likely benign 1 -24957 Simple 377767427 G . Uncertain significance 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;Hereditary cancer-predisposing syndrome 2017-02-23 -1.1400000000000001 1.5 Uncertain significance 0 -24964 Simple 1800863 G . Benign/Likely benign 2 8 Pheochromocytoma;Renal adysplasia;No MEN2 disease;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2016-08-15 -31.2 2.0 Benign 1 -25009 Simple 397514360 A . Pathogenic/Likely pathogenic 2 2 Biotinidase deficiency;not provided 2016-11-28 9.0 1.0 Pathogenic/Likely pathogenic 0 -25018 Simple 397514367 T . Pathogenic/Likely pathogenic 2 5 Biotinidase deficiency;not provided 2017-03-09 26.4 1.0 Pathogenic 1 -25020 Simple 397514369 A . Pathogenic/Likely pathogenic 2 2 Biotinidase deficiency 2017-07-17 7.8 2.5 Likely pathogenic 1 -25052 Simple 397514395 - . Pathogenic/Likely pathogenic 2 4 Biotinidase deficiency;not provided 2017-06-27 20.4 1.0 Pathogenic 1 -25057 Simple 397514398 - . Pathogenic 2 3 Biotinidase deficiency;not provided 2016-09-23 18.0 1.0 Pathogenic 0 -25088 Simple 3817641 C . Benign 2 2 Biotinidase deficiency;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -25094 Simple 138818907 T . Pathogenic 2 4 Biotinidase deficiency;not provided 2017-06-14 21.0 1.75 Pathogenic 0 -25104 Simple 114567021 T . Benign/Likely benign 2 4 Biotinidase deficiency;not specified 2017-06-29 -21.0 0.75 Benign/Likely benign 0 -25117 Simple 111033634 TT . Pathogenic/Likely pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-11-03 7.2 2.5 Likely pathogenic 1 -25137 Simple 111033658 T . Pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-05-08 10.2 2.0 Pathogenic/Likely pathogenic 1 -25142 Simple 111033661 G . Pathogenic 2 4 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided 2017-06-15 23.4 0.75 Pathogenic 0 -25154 Simple 111033667 C . Pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided 2017-02-15 11.4 1.5 Pathogenic/Likely pathogenic 1 -25166 Simple 41274865 C . Benign 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified 2016-08-15 -9.0 3.5 Benign/Likely benign 1 -25178 Simple 111033694 A . Pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-06-14 10.8 1.5 Pathogenic/Likely pathogenic 1 -25195 Simple 41274867 A . Benign 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified 2016-08-15 -9.0 3.5 Benign/Likely benign 1 -25222 Simple 111033728 C . Pathogenic 2 4 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided 2015-09-18 19.200000000000003 3.0 Pathogenic 0 -25226 Simple 111033739 T . Pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified 2017-02-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -25228 Simple 111033737 T . Pathogenic/Likely pathogenic 2 3 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-09-03 10.2 4.0 Pathogenic/Likely pathogenic 0 -25231 Simple 111033744 G . Pathogenic/Likely pathogenic 2 5 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided 2016-09-30 23.1 2.4 Pathogenic 1 -25234 Simple 111033746 T . Pathogenic/Likely pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-12-18 6.0 4.0 Likely pathogenic 1 -25246 Simple 111033749 T . Pathogenic/Likely pathogenic 2 3 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided 2016-11-29 12.0 1.0 Pathogenic/Likely pathogenic 0 -25291 Simple 111033790 A . Pathogenic/Likely pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-05-22 5.4 4.5 Likely pathogenic 1 -25320 Simple 111033814 A . Pathogenic/Likely pathogenic 2 3 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided 2016-12-27 12.0 2.6666666666666665 Pathogenic/Likely pathogenic 0 -25350 Simple 11568520 G . Pathogenic/Likely pathogenic 2 4 Renal carnitine transport defect;not provided 2017-07-17 18.3 2.0 Pathogenic 1 -25355 Simple 72552725 G . Pathogenic 2 2 Renal carnitine transport defect;not specified;not provided 2016-12-29 12.0 1.0 Pathogenic/Likely pathogenic 1 -25361 Simple 72552726 T . Pathogenic/Likely pathogenic 2 4 Renal carnitine transport defect;not provided 2017-06-23 21.0 0.75 Pathogenic 1 -25366 Simple 11568522 A . Benign 2 2 Renal carnitine transport defect;not specified 2014-05-16 -9.0 3.5 Benign/Likely benign 1 -25372 Simple 151231558 T . Pathogenic/Likely pathogenic 2 5 Renal carnitine transport defect;not specified 2017-06-22 24.6 1.4 Pathogenic 1 -25373 Simple 10040427 T . Benign/Likely benign 2 5 Renal carnitine transport defect;not specified 2017-08-08 -23.4 2.0 Benign/Likely benign 0 -25376 Simple 386134195 - . Pathogenic/Likely pathogenic 2 2 Renal carnitine transport defect;not provided 2014-06-26 7.199999999999999 3.0 Likely pathogenic 1 -25382 Simple 4551059 G . Benign 2 5 Renal carnitine transport defect;not specified 2017-08-01 -28.2 1.4 Benign 0 -25386 Simple 114269482 T . Pathogenic 2 3 Renal carnitine transport defect;not provided 2017-06-20 17.4 0.6666666666666666 Pathogenic 0 -25389 Simple 200699819 A . Uncertain significance 2 3 Renal carnitine transport defect;not specified 2017-03-21 -0.87 1.0 Uncertain significance 0 -25392 Simple 386134204 - . Pathogenic/Likely pathogenic 2 2 Renal carnitine transport defect;not provided 2016-09-07 8.7 1.5 Pathogenic/Likely pathogenic 0 -25401 Simple 386134210 A . Pathogenic 2 2 Renal carnitine transport defect;not provided 2016-05-05 10.2 2.5 Pathogenic/Likely pathogenic 1 -25411 Simple 144547521 T . Pathogenic/Likely pathogenic 2 3 Renal carnitine transport defect;not provided 2015-12-30 13.200000000000001 2.3333333333333335 Pathogenic/Likely pathogenic 0 -25416 Simple 72552732 T . Pathogenic 2 4 Renal carnitine transport defect;not provided 2017-06-30 20.4 2.25 Pathogenic 0 -25418 Simple 386134218 G . Pathogenic/Likely pathogenic 2 2 Renal carnitine transport defect;not provided 2017-03-07 8.4 1.5 Pathogenic/Likely pathogenic 0 -25423 Simple 60376624 G . Pathogenic/Likely pathogenic 2 4 Renal carnitine transport defect;not provided 2017-08-04 17.7 2.5 Pathogenic 1 -25432 Simple 11568525 T . Benign/Likely benign 2 3 Renal carnitine transport defect;not specified 2017-08-04 -13.8 1.3333333333333333 Benign/Likely benign 0 -29598 Simple 387906592 T . Pathogenic 2 4 Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5;Thoracic aortic aneurysm and aortic dissection;not provided;alterations of great arteries and veins;Connective tissue disorder 2017-03-16 21.0 2.0 Pathogenic 0 -29599 Simple 281875334 T . Pathogenic 2 2 Baraitser-Winter syndrome 1;not provided 2017-04-03 10.8 1.5 Pathogenic/Likely pathogenic 1 -29629 Simple 117412802 G . Benign/Likely benign, risk factor 2 2 Porencephaly;Hemorrhage, intracerebral, susceptibility to;not provided 2017-01-09 -9.0 1.0 Benign/Likely benign 0 -29643 Simple 387906609 T . Pathogenic 2 2 Bethlem myopathy 1;not provided;BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 2016-02-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -29654 Simple 63751194 T . Pathogenic 3 7 Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 39.42 1.1428571428571428 Pathogenic 0 -29657 Simple 63750693 A . Pathogenic 3 1 Lynch syndrome II;Lynch syndrome 2013-09-05 . 4.0 . 0 -29662 Simple 80338950 T . Pathogenic 2 3 Deafness, autosomal dominant 3a;Hearing impairment;not provided 2017-05-09 15.6 1.6666666666666667 Pathogenic 0 -29671 Simple 3745274 T . drug response 3 0 Efavirenz response;efavirenz response - Dosage;methadone response - Dosage;efavirenz response - Toxicity/ADR;nevirapine response - Other . . . . 0 -29682 Simple 199473690 C . Pathogenic/Likely pathogenic 2 2 Hereditary sensory neuropathy type IE;not provided 2016-04-12 8.1 2.5 Likely pathogenic 1 -29697 Simple 387906623 T . Pathogenic 2 4 Marfan syndrome;Geleophysic dysplasia 2;not provided 2018-01-04 22.8 1.5 Pathogenic 0 -29701 Simple 387906626 C . Pathogenic 2 2 Acromicric dysplasia;not provided 2018-01-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -29777 Simple 199472944 A . Pathogenic 2 3 Long QT syndrome 2;Long QT syndrome;not provided;Congenital long QT syndrome 2016-12-30 17.4 1.3333333333333333 Pathogenic 0 -29786 Simple 387906650 A . Pathogenic, risk factor 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Pheochromocytoma, susceptibility to;Hereditary cancer-predisposing syndrome 2017-06-27 12.0 0.0 Pathogenic/Likely pathogenic 1 -29788 Simple 387906651 A . Pathogenic, risk factor 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Pheochromocytoma, susceptibility to;Hereditary cancer-predisposing syndrome 2017-04-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -29805 Simple 387906660 A . Pathogenic 2 4 Cardiofaciocutaneous syndrome 1;Lung cancer;Noonan syndrome 1;LEOPARD syndrome 3;Noonan syndrome 7;Noonan syndrome;not provided;Rasopathy 2017-09-19 21.6 1.25 Pathogenic 0 -29807 Simple 387906661 G . Pathogenic/Likely pathogenic 2 3 Cardiofaciocutaneous syndrome 1;Lung cancer;Noonan syndrome 1;Noonan syndrome with multiple lentigines;LEOPARD syndrome 3;Noonan syndrome 7;not provided;Cardio-facio-cutaneous syndrome 2017-05-18 12.3 2.3333333333333335 Pathogenic/Likely pathogenic 0 -29856 Simple 387906678 C . Pathogenic 2 2 Bent bone dysplasia syndrome;Inborn genetic diseases 2015-11-20 9.0 3.5 Pathogenic/Likely pathogenic 1 -29886 Simple 387906684 A . Pathogenic/Likely pathogenic 2 3 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided 2017-09-20 12.3 2.6666666666666665 Pathogenic/Likely pathogenic 0 -29888 Simple 387906686 T . Pathogenic 2 3 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided;Epileptic encephalopathy 2017-06-05 16.2 1.6666666666666667 Pathogenic 0 -29896 Simple 398122805 T . Pathogenic 2 4 Paragangliomas 4;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-24 24.0 0.5 Pathogenic 0 -29915 Simple 387906696 G . Uncertain significance, risk factor 2 2 Multiple self healing squamous epithelioma;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -29929 Simple 387906702 G . Pathogenic/Likely pathogenic 2 2 Congenital muscular hypertrophy-cerebral syndrome;not provided 2017-01-12 8.4 2.0 Pathogenic/Likely pathogenic 0 -29939 Simple 387906704 A . Pathogenic 2 2 Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided 2017-09-12 11.4 1.0 Pathogenic/Likely pathogenic 1 -29962 Simple 398122853 T . Pathogenic 2 6 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-10-13 34.2 1.3333333333333333 Pathogenic 0 -30063 Simple 143153871 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome;Fanconi anemia, complementation group U 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -30169 Simple 387906799 A . Pathogenic 2 2 PEHO syndrome;Mental retardation, autosomal dominant 9;not provided 2015-10-06 10.8 2.0 Pathogenic/Likely pathogenic 1 -30201 Simple 875989800 - . Pathogenic 2 2 Mental retardation, autosomal dominant 15;not provided 2017-09-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -30285 Simple 387906843 A . Pathogenic, risk factor 2 5 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-09-27 30.0 0.6 Pathogenic 0 -30288 Simple 137886232 A . Pathogenic, risk factor 2 4 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2016-12-15 22.8 1.5 Pathogenic 0 -30292 Simple 797045262 . . Pathogenic 2 2 Mental retardation, autosomal dominant 14;not provided 2015-06-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -30295 Simple 387906847 C . Pathogenic/Likely pathogenic 2 2 Meier-Gorlin syndrome 2;not provided 2016-08-12 8.4 2.0 Pathogenic/Likely pathogenic 0 -30302 Simple 387906848 A . Pathogenic 2 2 Tumor susceptibility linked to germline BAP1 mutations;not provided 2017-02-23 12.0 1.0 Pathogenic/Likely pathogenic 1 -30339 Simple 72650700 A . Pathogenic 2 2 Pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste;Generalized arterial calcification of infancy 2;not provided 2017-05-08 10.8 1.5 Pathogenic/Likely pathogenic 1 -30344 Simple 281875227 T . Pathogenic 2 2 Mental retardation, autosomal dominant 16;not provided 2017-09-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -30370 Simple 200075782 A . Pathogenic 2 2 Infantile neuroaxonal dystrophy;not provided;Iron accumulation in brain 2017-10-31 9.6 2.5 Pathogenic/Likely pathogenic 1 -30389 Simple 2231142 T . drug response 3 0 Uric acid concentration, serum, quantitative trait locus 1;Blood group, Junior system;rosuvastatin response - Efficacy;Ovarian Neoplasms;allopurinol response - Efficacy . . . . 0 -30397 Simple 387906875 T . Pathogenic/Likely pathogenic 2 4 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1HH;not provided;Cardiovascular phenotype 2017-05-27 20.4 0.75 Pathogenic 1 -30459 Simple 138504221 G . Pathogenic 2 3 Mucopolysaccharidosis, MPS-III-A;Sanfilippo syndrome;not provided;Mucopolysaccharidosis Type III 2017-11-02 15.6 2.0 Pathogenic 0 -30472 Simple 387906904 A . Pathogenic 2 3 Distal spinal muscular atrophy, congenital nonprogressive;Charcot-Marie-Tooth disease type 2C;Skeletal dysplasia;not provided;Neuromuscular Diseases 2017-07-19 16.8 1.3333333333333333 Pathogenic 0 -30485 Simple 199689137 A . Pathogenic/Likely pathogenic 2 2 Sitosterolemia 2016-06-14 7.2 2.5 Likely pathogenic 1 -30498 Simple 387906917 A . Pathogenic/Likely pathogenic 2 2 Meier-Gorlin syndrome 4;not provided 2017-03-14 6.0 0.5 Likely pathogenic 1 -30535 Simple 149364097 G . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-21 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 0 -30556 Simple 387906930 T . Pathogenic 2 3 Diabetes mellitus AND insipidus with optic atrophy AND deafness;Wolfram-like syndrome, autosomal dominant;not provided 2017-10-13 16.8 1.0 Pathogenic 0 -30619 Simple 199847983 T . Pathogenic/Likely pathogenic 2 2 Galactosylceramide beta-galactosidase deficiency;not provided 2017-04-26 8.4 1.5 Pathogenic/Likely pathogenic 0 -30627 Simple 587776886 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -30709 Simple 147394623 G . Pathogenic 2 2 Retinitis pigmentosa 59 2016-10-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -30736 Simple 387906990 C . Pathogenic/Likely pathogenic 2 3 Charcot-Marie-Tooth disease, type 2;not provided;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2017-02-22 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -30811 Simple 191582628 A . Pathogenic/Likely pathogenic 2 2 Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive;not provided;Treacher Collins Syndrome, Recessive 2017-06-01 9.0 0.5 Pathogenic/Likely pathogenic 0 -30908 Simple 199469464 T . Pathogenic 2 3 Floating-Harbor syndrome;not provided 2017-03-17 15.600000000000001 2.0 Pathogenic 0 -30909 Simple 199469465 T . Pathogenic 2 3 Floating-Harbor syndrome;not provided 2017-07-13 16.2 1.6666666666666667 Pathogenic 0 -30940 Simple 138119149 A . Pathogenic/Likely pathogenic 2 2 Combined oxidative phosphorylation deficiency 8;not provided 2017-09-08 9.0 0.0 Pathogenic/Likely pathogenic 0 -30992 Simple 199474789 T . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;not provided 2017-06-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -30995 Simple 199473674 - . Pathogenic 2 2 Cerebroretinal microangiopathy with calcifications and cysts 1;Dyskeratosis congenita;not provided 2017-02-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -31000 Simple 199473677 - . Pathogenic 2 2 Cerebroretinal microangiopathy with calcifications and cysts 1;Dyskeratosis congenita;not provided 2016-02-03 10.8 2.0 Pathogenic/Likely pathogenic 1 -31069 Simple 397515393 - . Pathogenic 2 3 Primary ciliary dyskinesia;Ciliary dyskinesia, primary, 15 2017-07-24 16.2 1.6666666666666667 Pathogenic 0 -31134 Simple 141090143 T . Pathogenic 2 2 Combined malonic and methylmalonic aciduria;not provided 2017-02-23 10.8 2.0 Pathogenic/Likely pathogenic 1 -31156 Simple 397514477 A . Pathogenic 2 2 Neurodegeneration with brain iron accumulation 4;not provided 2016-06-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -31199 Simple 730880324 TT . Pathogenic 2 3 Rigidity and multifocal seizure syndrome, lethal neonatal;not provided;Inborn genetic diseases 2017-10-06 16.8 1.0 Pathogenic 0 -31204 Simple 770066665 - . Pathogenic/Likely pathogenic 2 2 Congenital stationary night blindness, type 1E;not provided;Congenital stationary night blindness;Congenital Stationary Night Blindness, Recessive 2016-06-14 9.0 1.0 Pathogenic/Likely pathogenic 0 -31219 Simple 367543061 A . Pathogenic/Likely pathogenic 2 2 Joubert syndrome 17;not provided 2017-04-18 7.8 1.5 Likely pathogenic 1 -31223 Simple 139675596 A . Pathogenic 2 2 Joubert syndrome 17 2017-06-14 10.8 1.5 Pathogenic/Likely pathogenic 1 -31529 Simple 149278319 G . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 1E;not provided 2017-06-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -31530 Simple 149278319 A . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 1E;not provided 2016-11-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -31531 Simple 387907150 A . Pathogenic 2 3 Dilated cardiomyopathy 1F;Limb-girdle muscular dystrophy, type 1E 2017-07-31 16.8 1.3333333333333333 Pathogenic 0 -31556 Simple 387907159 T . Pathogenic, risk factor 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 30.0 0.4 Pathogenic 0 -31601 Simple 387907170 C . Pathogenic 2 2 Glutaric aciduria, type 2;Glutaric acidemia iic, late-onset;Inborn genetic diseases 2017-10-24 10.8 1.5 Pathogenic/Likely pathogenic 1 -31603 Simple 72558199 T . Pathogenic/Likely pathogenic 2 2 Dubin-Johnson syndrome 2016-06-14 9.0 1.0 Pathogenic/Likely pathogenic 0 -31683 Simple 201188361 T . Pathogenic 2 2 Jeune thoracic dystrophy;Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not provided 2017-06-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -31688 Simple 141138948 G . Pathogenic/Likely pathogenic 2 5 Pontocerebellar hypoplasia, type 1b;not provided;Inborn genetic diseases 2017-05-18 23.7 1.8 Pathogenic 1 -31691 Simple 387907196 G . Pathogenic 2 2 Pontocerebellar hypoplasia, type 1b 2017-11-28 10.8 1.5 Pathogenic/Likely pathogenic 1 -31698 Simple 145457535 C . Pathogenic 2 2 Kartagener syndrome;Primary ciliary dyskinesia;Ciliary dyskinesia, primary, 17 2017-08-07 11.4 1.0 Pathogenic/Likely pathogenic 1 -31709 Simple 1008642 T . Benign/Likely benign 2 10 Limb-girdle muscular dystrophy, type 1C;Caveolinopathy;Long QT syndrome;Distal myopathy, Tateyama type;Romano-Ward syndrome;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Limb-Girdle Muscular Dystrophy, Dominant 2017-04-28 -37.2 2.2 Benign 1 -31711 Simple 116840775 A . Likely benign 2 2 Long QT syndrome;not specified;not provided 2016-06-16 -5.4 2.0 Likely benign 0 -31714 Simple 61147808 A . Benign/Likely benign 2 10 Limb-girdle muscular dystrophy, type 1C;Caveolinopathy;Long QT syndrome;Distal myopathy, Tateyama type;Romano-Ward syndrome;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Limb-Girdle Muscular Dystrophy, Dominant 2017-08-10 -40.2 1.6 Benign 1 -31716 Simple 1974763 T . Benign/Likely benign 2 9 Limb-girdle muscular dystrophy, type 1C;Caveolinopathy;Long QT syndrome;Distal myopathy, Tateyama type;Romano-Ward syndrome;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Limb-Girdle Muscular Dystrophy, Dominant 2017-04-28 -34.2 1.7777777777777777 Benign 1 -31717 Simple 13087941 C . Benign/Likely benign 2 10 Limb-girdle muscular dystrophy, type 1C;Caveolinopathy;Long QT syndrome;Distal myopathy, Tateyama type;Romano-Ward syndrome;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Limb-Girdle Muscular Dystrophy, Dominant 2017-04-29 -36.6 2.3 Benign 1 -31755 Simple 1801143 T . Benign/Likely benign 2 2 not specified;not provided 2016-01-05 -10.2 2.5 Benign/Likely benign 0 -31768 Simple 199474813 G . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 10;not provided 2016-07-22 9.0 1.0 Pathogenic/Likely pathogenic 0 -31771 Simple 2301610 G . Benign/Likely benign 2 4 not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-06-14 -14.4 4.75 Benign/Likely benign 0 -31772 Simple 3833910 - . Benign 2 2 not specified;not provided;Cardiomyopathy 2015-02-25 -8.4 4.0 Benign/Likely benign 1 -31777 Simple 199474703 T . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 8;Primary familial hypertrophic cardiomyopathy;not provided 2015-08-01 5.4 4.5 Likely pathogenic 1 -31778 Simple 199474707 T . Uncertain significance 2 3 not specified;not provided;Hypertrophic cardiomyopathy;Increased left ventricular wall thickness 2017-08-08 -0.84 1.0 Uncertain significance 0 -31779 Simple 199474708 C . Uncertain significance 2 2 not specified;not provided 2016-01-25 -0.45 3.5 Uncertain significance 0 -31780 Simple 139794067 C . Pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-05-01 28.8 1.2 Pathogenic 0 -31781 Simple 199474709 A . Benign/Likely benign 2 3 not specified;not provided;Hypertrophic cardiomyopathy 2016-11-03 -7.8 4.0 Likely benign 1 -31786 Simple 7687613 G . Benign/Likely benign 2 5 not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-08 -21.6 2.6 Benign/Likely benign 0 -31788 Simple 17851524 G . Benign 2 4 not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-02 -19.2 2.75 Benign/Likely benign 1 -31793 Simple 11596653 C . Benign 2 5 not specified;not provided;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-08-08 -24.6 2.6 Benign 0 -31794 Simple 10997948 A . Benign 2 3 not specified;not provided;Cardiovascular phenotype 2015-06-12 -14.4 3.0 Benign/Likely benign 1 -31795 Simple 2673794 C . Benign 2 3 not specified;not provided;Cardiovascular phenotype 2015-06-12 -14.4 3.0 Benign/Likely benign 1 -31796 Simple 2673793 T . Benign 2 3 not specified;not provided;Cardiovascular phenotype 2015-06-12 -14.4 3.0 Benign/Likely benign 1 -31797 Simple 10997975 A . Benign 2 4 not specified;not provided;Cardiovascular phenotype 2015-06-16 -18.6 3.25 Benign/Likely benign 1 -31798 Simple 7916821 A . Benign 2 4 not specified;not provided;Cardiovascular phenotype 2015-06-16 -18.6 3.25 Benign/Likely benign 1 -31800 Simple 7079481 A . Benign 2 4 not specified;not provided;Cardiovascular phenotype 2015-06-16 -18.6 3.25 Benign/Likely benign 1 -31803 Simple 61854624 A . Benign 2 3 not specified;not provided;Cardiovascular phenotype 2015-06-12 -14.4 3.0 Benign/Likely benign 1 -31804 Simple 10823148 G . Benign 2 4 not specified;not provided;Cardiovascular phenotype 2015-06-16 -18.6 3.25 Benign/Likely benign 1 -31805 Simple 71535754 T . Benign/Likely benign 2 4 not specified;not provided;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-10-02 -14.7 0.5 Benign/Likely benign 0 -31806 Simple 71584491 A . Benign 2 4 not specified;not provided;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-08-08 -20.4 2.25 Benign/Likely benign 1 -31808 Simple 3814182 G . Benign 2 4 not specified;not provided;Cardiovascular phenotype 2015-06-12 -18.6 3.25 Benign/Likely benign 1 -31809 Simple 62620248 A . Benign 2 5 not specified;not provided;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-08-07 -24.6 2.6 Benign 0 -31826 Simple 74143022 G . Benign 2 4 not specified;not provided;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-08-09 -20.4 2.25 Benign/Likely benign 1 -31827 Simple 74143030 A . Benign 2 5 not specified;not provided;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-08-08 -24.6 2.6 Benign 0 -31831 Simple 199476414 A . Uncertain significance 2 3 not specified;not provided;Dilated cardiomyopathy 1KK 2017-05-30 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -31836 Simple 144764983 T . Benign 2 3 not specified;not provided;Dilated cardiomyopathy 1KK 2017-07-17 -15.6 2.0 Benign/Likely benign 1 -31838 Simple 11944325 T . Benign 2 3 Primary dilated cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2017-07-26 -15.6 2.0 Benign/Likely benign 1 -31839 Simple 62347360 A . Benign 2 3 Primary dilated cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2017-07-26 -15.6 2.0 Benign/Likely benign 1 -31849 Simple 4904 T . Benign/Likely benign 2 2 not specified;not provided;Osteogenesis Imperfecta, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -31855 Simple 9636153 C . Benign/Likely benign 2 6 Familial restrictive cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Nemaline Myopathy, Recessive 2016-06-14 -20.4 1.1666666666666667 Benign/Likely benign 0 -31863 Simple 11669534 A . Benign/Likely benign 2 4 not specified;not provided;Nemaline Myopathy, Recessive 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -31865 Simple 112562759 C . Benign/Likely benign 2 8 Familial restrictive cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -30.0 2.25 Benign 1 -31871 Simple 16927166 C . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Arthrogryposis multiplex congenita distal;not specified;not provided 2016-06-14 -6.0 1.0 Likely benign 1 -31872 Simple 4727 T . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Arthrogryposis multiplex congenita distal;not specified;not provided 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -31877 Simple 199476306 T . Likely pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2016-11-26 5.7 1.5 Likely pathogenic 0 -31884 Simple 199476317 A . Pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1Y;not provided 2017-11-10 17.4 1.0 Pathogenic 0 -31888 Simple 1071646 A . Benign/Likely benign 2 5 not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -18.0 3.8 Benign/Likely benign 0 -31898 Simple 199476322 G . Uncertain significance 2 2 not specified;not provided 2017-11-07 -0.54 1.5 Uncertain significance 0 -31946 Simple 387907208 A . Pathogenic 2 2 Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O 2017-07-11 11.4 1.0 Pathogenic/Likely pathogenic 1 -31947 Simple 387907209 T . Pathogenic 2 2 Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O;not provided 2017-03-31 11.4 1.0 Pathogenic/Likely pathogenic 1 -35470 Simple 398124641 A . Pathogenic 2 4 Brown-Vialetto-Van Laere syndrome 2;not provided 2017-07-28 22.8 1.25 Pathogenic 0 -35505 Simple 387907218 A . Pathogenic 2 2 3-Methylglutaconic aciduria type 2;not provided 2017-03-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -35537 Simple 387907231 T . Pathogenic/Likely pathogenic 2 2 Ulna and fibula absence of with severe limb deficiency;not provided 2016-03-15 8.4 1.5 Pathogenic/Likely pathogenic 0 -35604 Simple 61748766 T . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;Neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -10.5 2.25 Benign/Likely benign 0 -35611 Simple 193922400 T . Pathogenic/Likely pathogenic 2 2 Transient neonatal diabetes mellitus 2;Neonatal diabetes mellitus 2014-10-30 6.3 4.5 Likely pathogenic 1 -35616 Simple 137852676 T . Pathogenic/Likely pathogenic 2 2 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;Familial hyperinsulinism 2014-06-07 3.9 4.5 Uncertain significance 3 -35617 Simple 193922402 A . Pathogenic/Likely pathogenic 2 2 Persistent hyperinsulinemic hypoglycemia of infancy;Familial hyperinsulinism 2015-01-29 5.4 4.5 Likely pathogenic 1 -35619 Simple 193922404 A . Uncertain significance 2 2 Neonatal diabetes mellitus;not specified 2016-11-18 -0.44999999999999996 3.5 Uncertain significance 0 -35623 Simple 193922408 T . Likely pathogenic 2 2 Permanent neonatal diabetes mellitus;Neonatal diabetes mellitus 2017-04-04 4.5 3.0 Likely pathogenic 0 -35626 Simple 35857705 - . Likely benign 2 4 Hypertrichotic osteochondrodysplasia;Cardiomyopathy;Familial atrial fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -10.5 2.25 Benign/Likely benign 1 -35627 Simple 61688134 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1O;Myocardial infarction;Cardiomyopathy;not specified;Cardiovascular phenotype 2017-08-03 -23.4 3.0 Benign/Likely benign 0 -35628 Simple 144537241 A . Benign 2 4 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1O;not specified;Cardiovascular phenotype 2017-08-04 -19.8 2.5 Benign/Likely benign 1 -35630 Simple 139408145 T . Benign/Likely benign 2 7 Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O;Cardiomyopathy;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-28 -28.2 2.0 Benign 1 -35632 Simple 35404804 A . Benign 2 5 Dilated cardiomyopathy 1O;Cardiomyopathy;not specified;Cardiovascular phenotype 2017-07-20 -22.2 3.8 Benign/Likely benign 1 -35633 Simple 150303433 G . Benign 2 3 Dilated cardiomyopathy 1O;Cardiomyopathy;not specified 2017-07-20 -13.8 3.0 Benign/Likely benign 1 -35635 Simple 58386780 A . Benign 2 4 Dilated cardiomyopathy 1O;Cardiomyopathy;not specified 2017-07-10 -16.2 4.5 Benign/Likely benign 1 -35640 Simple 193922096 A . Likely benign 2 2 Adrenoleukodystrophy 2017-02-06 -4.5 3.5 Likely benign 0 -35642 Simple 193922097 A . Pathogenic 2 2 Adrenoleukodystrophy 2014-02-03 7.2 5.0 Likely pathogenic 2 -35644 Simple 3816245 T . Benign 2 2 Familial aortopathy;not specified 2013-03-21 -7.2 5.0 Likely benign 2 -35648 Simple 193922634 T . Likely benign 2 3 Cardiomyopathy;not specified 2015-10-21 -6.0 4.333333333333333 Likely benign 0 -35649 Simple 34975493 A . Benign/Likely benign 2 7 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-02 -27.0 3.2857142857142856 Benign 1 -35650 Simple 193922635 T . Uncertain significance 2 5 Familial hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;not specified;Cardiovascular phenotype 2017-07-21 -1.44 0.8 Uncertain significance 0 -35652 Simple 394105 C . Benign 2 2 Severe combined immunodeficiency due to ADA deficiency;Severe combined immunodeficiency disease 2017-07-12 -9.0 3.0 Benign/Likely benign 1 -35653 Simple 61737144 T . Benign/Likely benign 2 5 Severe combined immunodeficiency due to ADA deficiency;Severe combined immunodeficiency disease;not specified 2017-04-13 -21.6 2.6 Benign/Likely benign 0 -35655 Simple 193922703 T . Pathogenic/Likely pathogenic 2 2 Immunodeficiency with hyper IgM type 2;not provided 2017-02-07 7.5 3.5 Likely pathogenic 1 -35657 Simple 61737072 C . Benign 2 2 Polyglandular autoimmune syndrome, type 1;not specified 2017-08-07 -10.2 2.0 Benign/Likely benign 1 -35659 Simple 144359012 A . Benign/Likely benign 2 3 Polyglandular autoimmune syndrome, type 1;not specified 2017-07-31 -10.5 2.3333333333333335 Benign/Likely benign 0 -35661 Simple 7281600 A . Benign/Likely benign 2 2 Polyglandular autoimmune syndrome, type 1 2017-06-29 -7.5 3.0 Likely benign 1 -35668 Simple 34397615 T . Benign/Likely benign 2 3 Polyglandular autoimmune syndrome, type 1 2017-08-11 -9.6 3.3333333333333335 Benign/Likely benign 0 -35686 Simple 35336373 G . Benign/Likely benign 2 3 Cardiac arrhythmia;Long QT syndrome 2017-07-26 -12.0 2.3333333333333335 Benign/Likely benign 0 -35689 Simple 143404578 A . Likely benign 2 2 Cardiac arrhythmia;Long QT syndrome 2016-06-14 -4.5 3.5 Likely benign 0 -35690 Simple 28377576 C . Benign/Likely benign 2 4 Cardiac arrhythmia;Long QT syndrome;not specified;Cardiovascular phenotype 2016-06-14 -14.100000000000001 3.25 Benign/Likely benign 0 -35701 Simple 1801243 C . Benign/Likely benign 2 6 Wilson disease;not specified 2016-10-10 -27.0 2.6666666666666665 Benign 1 -35702 Simple 1801244 G . Benign/Likely benign 2 5 Wilson disease;not specified 2016-10-10 -24.0 2.0 Benign 1 -35704 Simple 114449708 G . Benign 2 3 Wilson disease;not specified 2017-08-08 -14.4 2.6666666666666665 Benign/Likely benign 1 -35705 Simple 193922102 C . Pathogenic/Likely pathogenic 2 2 Wilson disease 2013-02-08 5.1 5.5 Likely pathogenic 1 -35707 Simple 1061472 C . Benign 2 6 Wilson disease;not specified 2016-10-10 -30.0 2.6666666666666665 Benign 0 -35708 Simple 732774 T . Benign/Likely benign 2 5 Wilson disease;not specified 2016-10-10 -26.4 2.2 Benign 1 -35709 Simple 7325983 G . Benign/Likely benign 2 6 Wilson disease;not specified 2016-10-10 -25.8 3.0 Benign 1 -35710 Simple 72552255 A . Pathogenic 2 6 Wilson disease 2017-05-25 31.8 1.8333333333333333 Pathogenic 0 -35713 Simple 1801246 T . Benign/Likely benign 2 6 Wilson disease;not specified 2016-11-23 -24.6 3.3333333333333335 Benign 1 -35714 Simple 1801247 T . Benign/Likely benign 2 6 Wilson disease;not specified 2016-12-06 -25.2 3.1666666666666665 Benign 1 -35715 Simple 74085888 A . Benign/Likely benign 2 3 Wilson disease;not specified 2017-04-04 -10.5 2.3333333333333335 Benign/Likely benign 0 -35716 Simple 1801248 T . Benign/Likely benign 2 5 Wilson disease;not specified 2016-10-11 -21.0 3.0 Benign/Likely benign 0 -35718 Simple 76163470 A . Benign/Likely benign 2 4 Wilson disease;not specified 2016-12-04 -17.7 3.0 Benign/Likely benign 0 -35720 Simple 1801249 G . Benign/Likely benign 2 4 Wilson disease;not specified 2016-10-10 -23.4 1.25 Benign/Likely benign 0 -35721 Simple 193922106 A . Likely benign 2 2 Wilson disease 2014-08-26 -3.9 4.5 Uncertain significance 2 -35723 Simple 11840224 A . Benign/Likely benign 2 2 Wilson disease;not specified 2017-07-26 -6.0 3.0 Likely benign 1 -35724 Simple 7334118 C . Benign/Likely benign 2 6 Wilson disease;not specified 2017-08-17 -30.0 1.6666666666666667 Benign 1 -35725 Simple 193922107 A . Pathogenic/Likely pathogenic 2 4 Wilson disease;not provided 2017-05-18 14.4 2.5 Pathogenic/Likely pathogenic 0 -35727 Simple 2282057 A . Benign 2 6 Wilson disease;not specified 2016-10-10 -30.0 2.6666666666666665 Benign 0 -35728 Simple 193922109 A . Pathogenic/Likely pathogenic 2 7 Wilson disease;not specified;not provided 2017-06-09 33.0 2.0 Pathogenic 1 -35729 Simple 193922110 T . Likely pathogenic 2 3 Wilson disease;not provided 2016-07-31 6.9 3.3333333333333335 Likely pathogenic 0 -35731 Simple 116091486 T . Benign/Likely benign 2 3 Wilson disease;not specified 2017-08-08 -15.0 2.3333333333333335 Benign/Likely benign 0 -35732 Simple 73202048 T . Benign 2 6 Wilson disease;not specified 2017-07-12 -29.4 2.6666666666666665 Benign 0 -35734 Simple 193922100 T . Uncertain significance 2 2 Wilson disease 2016-06-14 -0.44999999999999996 3.5 Uncertain significance 0 -35736 Simple 184868522 G . Uncertain significance 2 4 Wilson disease;not specified 2017-04-27 -1.17 1.0 Uncertain significance 0 -35742 Simple 193922116 - . Pathogenic/Likely pathogenic 2 2 Nephrogenic diabetes insipidus;not provided 2016-11-22 7.5 3.5 Likely pathogenic 1 -35756 Simple 77019529 T . Benign/Likely benign 2 2 Bardet-Biedl syndrome 2016-06-14 -6.0 3.5 Likely benign 1 -35767 Simple 34419050 T . Benign/Likely benign 2 5 Cardiac arrhythmia;Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-04 -21.0 1.8 Benign/Likely benign 0 -35768 Simple 55792866 A . Benign/Likely benign 2 3 Cardiac arrhythmia;Timothy syndrome;Brugada syndrome;not specified 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -35769 Simple 114036394 T . Benign/Likely benign 2 3 Cardiac arrhythmia;Timothy syndrome;Brugada syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -35776 Simple 12493789 G . Benign/Likely benign 2 7 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-08-22 -36.3 1.8571428571428572 Benign 1 -35788 Simple 193922433 A . Likely pathogenic 2 3 Familial hypocalciuric hypercalcemia;not provided 2017-03-10 6.0 4.0 Likely pathogenic 0 -35798 Simple 121909260 G . Likely pathogenic 2 2 Familial hypocalciuric hypercalcemia;not provided 2016-04-04 4.5 3.5 Likely pathogenic 0 -35799 Simple 9869985 A . Benign 2 3 Familial hypocalciuric hypercalcemia;not specified 2017-07-13 -13.2 3.3333333333333335 Benign/Likely benign 1 -35810 Simple 193922618 AATCAATC . Uncertain significance 2 2 Severe combined immunodeficiency disease;Severe Combined Immune Deficiency 2016-06-14 -0.44999999999999996 3.5 Uncertain significance 0 -35812 Simple 193922135 T . Pathogenic 2 2 Immunodeficiency with hyper IgM type 1;not specified 2016-12-05 9.0 3.5 Pathogenic/Likely pathogenic 1 -35820 Simple 79074685 A . Likely benign 2 1 Cystic fibrosis;not specified 2011-08-18 . 6.0 . 0 -35822 Simple 121908805 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -35823 Simple 139573311 C . Pathogenic 3 3 Cystic fibrosis 2017-03-17 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -35826 Simple 1800094 G . Benign/Likely benign 2 5 Cystic fibrosis;Hereditary pancreatitis;not specified 2017-07-03 -21.6 2.6 Benign/Likely benign 0 -35828 Simple 193922503 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -35830 Simple 1800097 A . Uncertain significance 2 4 Cystic fibrosis;not specified 2017-08-02 -0.99 2.25 Uncertain significance 0 -35831 Simple 193922505 - . Pathogenic 3 2 Cystic fibrosis;not provided 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -35833 Simple 121908759 A . Pathogenic 2 3 Cystic fibrosis;Hereditary pancreatitis;not provided 2016-09-01 18.0 1.0 Pathogenic 0 -35836 Simple 121908812 - . Pathogenic 3 3 Cystic fibrosis 2017-03-17 18.0 1.0 Pathogenic 0 -35837 Simple 121908799 G . Pathogenic 3 5 Cystic fibrosis;Hereditary pancreatitis;not provided 2017-03-17 30.0 1.0 Pathogenic 0 -35838 Simple 1131692276 AA . Pathogenic 3 7 Cystic fibrosis;Hereditary pancreatitis;not provided 2017-03-17 37.8 1.8571428571428572 Pathogenic 0 -35846 Simple 74467662 C . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.6 0.5 Pathogenic/Likely pathogenic 1 -35849 Simple 193922510 TT . Pathogenic 3 2 Cystic fibrosis 2017-03-17 8.1 3.0 Likely pathogenic 2 -35853 Simple 1800109 A . Benign/Likely benign 2 6 Cystic fibrosis;not specified 2017-07-24 -24.3 2.8333333333333335 Benign 1 -35854 Simple 386134230 A . Likely pathogenic 2 2 Cystic fibrosis 2016-01-29 5.1 2.5 Likely pathogenic 0 -35857 Simple 121908797 A . Pathogenic 3 4 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 20.4 2.5 Pathogenic 0 -35860 Simple 1800112 C . Benign/Likely benign 2 5 Cystic fibrosis;not specified;not provided 2017-08-03 -18.3 1.6 Benign/Likely benign 0 -35864 Simple 76151804 G . Pathogenic 3 3 Cystic fibrosis 2017-03-17 17.4 1.3333333333333333 Pathogenic 0 -35866 Simple 78769542 A . Pathogenic/Likely pathogenic 2 4 Cystic fibrosis;Hereditary pancreatitis;Congenital bilateral absence of the vas deferens 2015-06-01 18.6 2.25 Pathogenic 1 -35867 Simple 75541969 C . Pathogenic/Likely pathogenic 2 11 Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Hereditary pancreatitis;Congenital bilateral absence of the vas deferens;not specified;not provided 2017-07-05 63.0 0.6363636363636364 Pathogenic 1 -35868 Simple 121908747 - . Pathogenic 4 4 Cystic fibrosis;not specified 2004-03-03 21.75 4.0 Pathogenic 0 -35869 Simple 1800121 G . Likely benign 2 3 Cystic fibrosis;not specified 2017-03-07 -6.9 3.0 Likely benign 0 -35871 Simple 121908783 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -35876 Simple 397515289 CAGAGT . Uncertain significance 2 2 Hereditary pancreatitis;not specified 2016-12-15 -0.44999999999999996 3.5 Uncertain significance 0 -35881 Simple 193922525 A . Pathogenic/Likely pathogenic, drug response 3 2 Cystic fibrosis;ivacaftor response - Efficacy 2017-03-17 9.6 0.5 Pathogenic/Likely pathogenic 0 -35883 Simple 148878126 A . Likely benign 2 2 Cystic fibrosis 2017-06-20 -4.5 3.0 Likely benign 0 -35889 Simple 386134231 GATTGATT . Benign/Likely benign 2 2 Cystic fibrosis;not specified 2016-08-02 -4.5 3.5 Likely benign 1 -35890 Simple 193922532 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -35908 Simple 193922145 A . Pathogenic/Likely pathogenic 2 2 Osteogenesis imperfecta type I;Osteogenesis imperfecta 2015-10-20 6.9 4.0 Likely pathogenic 1 -35916 Simple 193922151 - . Pathogenic/Likely pathogenic 2 2 Osteogenesis imperfecta;not provided 2017-06-09 7.5 3.0 Likely pathogenic 1 -35920 Simple 72653173 A . Pathogenic 2 3 Osteogenesis imperfecta type I;Osteogenesis imperfecta;not provided 2017-05-25 15.0 2.3333333333333335 Pathogenic 0 -35922 Simple 34940368 A . Benign/Likely benign 2 6 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Osteogenesis imperfecta;Ehlers-Danlos syndrome, type 7A;not provided;Osteogenesis Imperfecta, Dominant 2017-06-14 -22.5 1.6666666666666667 Benign/Likely benign 0 -35926 Simple 138078016 A . Benign/Likely benign 2 2 Osteogenesis imperfecta type I;Osteogenesis imperfecta 2017-03-08 -7.5 3.0 Likely benign 1 -35936 Simple 139726213 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;Osteogenesis imperfecta 2017-06-21 -7.5 3.0 Likely benign 1 -35940 Simple 193229878 A . Likely benign 2 2 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;Osteogenesis imperfecta 2017-03-30 -4.5 3.0 Likely benign 0 -35941 Simple 141688356 T . Benign/Likely benign 2 2 Osteogenesis imperfecta;not specified 2016-11-25 -7.5 3.5 Likely benign 1 -35945 Simple 62001059 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, procollagen proteinase deficient;Osteogenesis imperfecta type I;Osteogenesis imperfecta;Osteogenesis Imperfecta, Dominant 2017-06-10 -13.5 2.0 Benign/Likely benign 0 -35948 Simple 34691365 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, procollagen proteinase deficient;Osteogenesis imperfecta type I;Osteogenesis imperfecta;Osteogenesis Imperfecta, Dominant 2017-06-16 -13.5 2.0 Benign/Likely benign 0 -35957 Simple 72656387 A . Pathogenic 2 2 Osteogenesis imperfecta;not provided 2014-11-17 7.8 4.5 Likely pathogenic 2 -35960 Simple 34511999 T . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, procollagen proteinase deficient;Osteogenesis imperfecta type I;Osteogenesis imperfecta;not specified;Osteogenesis Imperfecta, Dominant 2017-07-10 -18.9 2.0 Benign/Likely benign 0 -35961 Simple 2271679 A . Benign 2 4 Ehlers-Danlos syndrome, type 4;Familial aortopathy;not specified 2016-06-14 -16.8 4.0 Benign/Likely benign 1 -35963 Simple 114299724 C . Benign 2 1 Familial aortopathy;not specified 2015-06-04 . 5.0 . 0 -35964 Simple 41263773 A . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 4;Familial aortopathy;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-04 -24.3 2.2 Benign 1 -35968 Simple 34834015 T . Benign 2 1 Chronic granulomatous disease, X-linked;not specified 2011-08-18 . 6.0 . 0 -35975 Simple 35080474 A . Benign/Likely benign 2 2 Chronic granulomatous disease, X-linked 2017-06-30 -7.5 3.0 Likely benign 1 -35978 Simple 193922534 T . Uncertain significance 2 2 Congenital adrenal hyperplasia;not specified 2016-11-22 -0.44999999999999996 3.5 Uncertain significance 0 -35985 Simple 5293 A . Benign/Likely benign 2 3 Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -35987 Simple 9657022 A . Benign/Likely benign 2 3 Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -35991 Simple 193922542 G . Uncertain significance 2 2 Congenital adrenal hyperplasia;not specified 2017-04-05 -0.44999999999999996 3.0 Uncertain significance 0 -35994 Simple 193922545 G . Benign/Likely benign 2 1 Congenital adrenal hyperplasia;not specified 2011-08-18 . 6.0 . 0 -35995 Simple 193922546 T . Benign/Likely benign 2 1 Congenital adrenal hyperplasia;not specified 2011-08-18 . 6.0 . 0 -35999 Simple 35441642 C . Benign/Likely benign 2 3 Histiocytic medullary reticulosis;Severe combined immunodeficiency disease;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -36000 Simple 7076862 A . Benign 2 3 Histiocytic medullary reticulosis;Severe combined immunodeficiency disease;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -36001 Simple 75882680 C . Benign 2 10 Myofibrillar myopathy 1;Cardiomyopathy;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-04 -49.8 2.6 Benign 0 -36002 Simple 1318299 G . Benign 2 11 Myofibrillar myopathy 1;Cardiomyopathy;not specified;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-12 -55.2 2.5454545454545454 Benign 0 -36003 Simple 2017800 C . Benign 2 11 Myofibrillar myopathy 1;Cardiomyopathy;not specified;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-12 -55.2 2.5454545454545454 Benign 0 -36004 Simple 144242114 C . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 11;Cardiomyopathy;not specified 2017-06-30 -15.0 2.3333333333333335 Benign/Likely benign 1 -36006 Simple 61731921 T . Benign/Likely benign 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-18 -21.6 2.8 Benign/Likely benign 0 -36010 Simple 2230235 A . Benign/Likely benign 2 7 Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2017-07-27 -26.4 3.0 Benign 1 -36011 Simple 34417028 C . Benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 10;Cardiomyopathy;not specified 2017-07-18 -18.0 3.25 Benign/Likely benign 1 -36012 Simple 34065672 T . Benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 10;Cardiomyopathy;not specified 2017-07-18 -18.0 3.25 Benign/Likely benign 1 -36013 Simple 8095704 C . Benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;Cardiac arrhythmia;not specified 2017-08-04 -9.6 2.5 Benign/Likely benign 1 -36019 Simple 28763962 C . Benign/Likely benign 2 9 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy;not specified;Cardiomyopathy, ARVC 2017-08-04 -31.2 2.888888888888889 Benign 1 -36020 Simple 80325569 A . Benign/Likely benign 2 11 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-21 -43.2 2.1818181818181817 Benign 1 -36021 Simple 28763968 A . Benign/Likely benign 2 8 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-11 -30.0 2.125 Benign 1 -36025 Simple 145362059 G . Benign/Likely benign 2 9 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-06-12 -29.7 1.8888888888888888 Benign 1 -36027 Simple 111817603 A . Benign 2 2 Cardiomyopathy;not specified 2014-09-02 -8.4 4.0 Benign/Likely benign 1 -36028 Simple 76713874 A . Benign 2 2 Cardiomyopathy;not specified 2015-06-04 -8.4 4.0 Benign/Likely benign 1 -36029 Simple 117571555 A . Benign/Likely benign 2 4 Left ventricular noncompaction 1;Cardiomyopathy;not specified;Left ventricular noncompaction cardiomyopathy 2017-07-10 -16.8 2.5 Benign/Likely benign 0 -36031 Simple 142721902 T . Benign 2 3 Dilated cardiomyopathy 1J;Cardiomyopathy;not specified;Cardiovascular phenotype 2017-08-04 -15.0 2.3333333333333335 Benign/Likely benign 1 -36033 Simple 112289537 - . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2016-10-25 7.5 3.5 Likely pathogenic 1 -36041 Simple 112366266 A . Benign/Likely benign 2 14 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-28 -51.6 1.9285714285714286 Benign 1 -36042 Simple 193922185 A . Pathogenic/Likely pathogenic 2 3 Marfan syndrome;not specified;not provided 2016-09-19 10.2 3.0 Pathogenic/Likely pathogenic 0 -36044 Simple 140603 A . Benign 2 4 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-07-12 -19.8 2.5 Benign/Likely benign 1 -36049 Simple 193921256 T . Pathogenic/Likely pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2017-05-18 12.3 3.0 Pathogenic/Likely pathogenic 0 -36062 Simple 193922196 - . Benign/Likely benign 2 5 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-06-21 -23.7 2.4 Benign/Likely benign 0 -36064 Simple 193922198 - . Pathogenic/Likely pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-03-15 9.0 5.0 Pathogenic/Likely pathogenic 0 -36065 Simple 140598 C . Benign 2 8 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;FNB1 POLYMORPHISM;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-22 -40.2 2.75 Benign 0 -36071 Simple 148147223 T . Benign/Likely benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-11 -47.4 1.7692307692307692 Benign 1 -36072 Simple 140637 G . Benign/Likely benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-17 -45.6 2.076923076923077 Benign 1 -36074 Simple 61730054 C . Uncertain significance 2 4 Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;Acromicric dysplasia;Geleophysic dysplasia 2;not specified;Marfan lipodystrophy syndrome 2017-05-23 -0.84 4.0 Uncertain significance 0 -36075 Simple 193922204 T . Pathogenic/Likely pathogenic 2 5 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-07-14 18.9 1.8 Pathogenic 1 -36076 Simple 193922205 T . Likely pathogenic 2 2 Marfan syndrome 2011-08-18 3.0 8.0 Uncertain significance 2 -36078 Simple 111401431 A . Pathogenic 2 8 Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;Acromicric dysplasia;Geleophysic dysplasia 2;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD);Marfan lipodystrophy syndrome;Aortic aneurysm, ascending, and dissection 2017-06-27 39.6 3.0 Pathogenic 0 -36082 Simple 113871094 A . Pathogenic 2 6 Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;Acromicric dysplasia;Geleophysic dysplasia 2;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD);Marfan lipodystrophy syndrome 2017-07-11 30.0 2.3333333333333335 Pathogenic 0 -36084 Simple 113115949 C . Benign/Likely benign 2 15 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-28 -57.0 1.9333333333333333 Benign 1 -36085 Simple 111671429 C . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2015-09-09 6.9 4.0 Likely pathogenic 1 -36097 Simple 113577372 A . Benign 2 3 Marfan syndrome;not specified 2016-12-04 -16.2 2.0 Benign/Likely benign 1 -36098 Simple 193922221 G . Likely benign 2 2 Marfan syndrome;not specified 2016-04-26 -4.5 3.5 Likely benign 0 -36103 Simple 111844882 A . Benign/Likely benign 2 14 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-28 -51.6 1.9285714285714286 Benign 1 -36107 Simple 193922228 G . Pathogenic/Likely pathogenic 2 7 Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;Acromicric dysplasia;Geleophysic dysplasia 2;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Thoracic aortic Aneurysm and dissection (TAAD);Marfan lipodystrophy syndrome 2017-07-04 30.6 1.7142857142857142 Pathogenic 1 -36108 Simple 363835 A . Benign/Likely benign 2 14 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-18 -54.0 1.5714285714285714 Benign 1 -36113 Simple 193922231 A . Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2016-02-17 -4.2 4.0 Likely benign 0 -36119 Simple 193922236 T . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2012-11-27 5.1 5.5 Likely pathogenic 1 -36121 Simple 193922238 A . Likely benign 2 2 Marfan syndrome;not specified 2016-07-26 -4.5 3.5 Likely benign 0 -36128 Simple 146120912 A . Benign/Likely benign 2 14 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-01-18 -52.5 1.7142857142857142 Benign 1 -36129 Simple 193922244 T . Uncertain significance 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-01-23 -0.6599999999999999 3.6666666666666665 Uncertain significance 0 -36132 Simple 363847 G . Benign/Likely benign 2 14 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-11 -50.7 1.7142857142857142 Benign 1 -36133 Simple 12324002 G . Benign/Likely benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-26 -49.8 1.4615384615384615 Benign 1 -36135 Simple 193922702 T . Pathogenic 2 2 Autosomal dominant hypophosphatemic rickets 2013-12-05 7.2 5.0 Likely pathogenic 2 -36136 Simple 146967918 A . Benign/Likely benign 2 3 Cardiomyopathy;not specified;Walker-Warburg congenital muscular dystrophy 2016-12-12 -10.2 3.0 Benign/Likely benign 0 -36138 Simple 41313301 G . Benign/Likely benign 2 4 Cardiomyopathy;not specified;Walker-Warburg congenital muscular dystrophy 2017-08-02 -16.5 2.75 Benign/Likely benign 0 -36140 Simple 41277795 G . Benign/Likely benign 2 4 Cardiomyopathy;not specified;Walker-Warburg congenital muscular dystrophy 2017-08-02 -16.5 2.75 Benign/Likely benign 0 -36143 Simple 193922247 C . Likely pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-10-10 3.9 4.5 Uncertain significance 2 -36145 Simple 193922248 T . Likely pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified 2017-03-28 4.5 3.0 Likely pathogenic 0 -36147 Simple 193922249 C . Likely benign 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified 2017-01-24 -4.5 3.5 Likely benign 0 -36148 Simple 12000481 A . Benign 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified 2015-11-06 -8.4 4.0 Benign/Likely benign 1 -36158 Simple 1055607 A . Benign/Likely benign 2 6 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified;Galactosemia 2017-06-29 -29.4 1.8333333333333333 Benign 1 -36160 Simple 61735982 C . Benign/Likely benign 2 5 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified;Galactosemia 2017-06-29 -26.4 1.0 Benign 1 -36166 Simple 193922254 - . Pathogenic/Likely pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2016-02-11 6.9 4.0 Likely pathogenic 1 -36180 Simple 193922268 G . Likely pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2016-12-22 4.5 3.5 Likely pathogenic 0 -36182 Simple 193921338 A . Likely pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2015-12-03 4.2 4.0 Likely pathogenic 0 -36200 Simple 193922283 A . Likely pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2016-08-17 4.5 3.5 Likely pathogenic 0 -36205 Simple 193922287 A . Pathogenic/Likely pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2017-06-27 7.5 3.0 Likely pathogenic 1 -36209 Simple 193922289 T . Pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2016-04-04 9.0 3.5 Pathogenic/Likely pathogenic 1 -36213 Simple 149412035 A . Benign/Likely benign 2 6 Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young, type 2;not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Transient Neonatal Diabetes, Recessive 2016-06-14 -19.5 1.8333333333333333 Benign/Likely benign 0 -36218 Simple 193922297 G . Pathogenic/Likely pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2015-04-22 6.9 4.0 Likely pathogenic 1 -36235 Simple 142817246 T . Benign/Likely benign 2 7 Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young, type 2;not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Transient Neonatal Diabetes, Recessive 2017-05-12 -22.2 1.7142857142857142 Benign/Likely benign 0 -36237 Simple 193922314 - . Likely pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2017-11-02 4.5 3.0 Likely pathogenic 0 -36238 Simple 144723656 C . Pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2015-03-05 8.4 4.0 Pathogenic/Likely pathogenic 1 -36242 Simple 193922318 A . Benign/Likely benign 2 2 Maturity-onset diabetes of the young, type 2;not specified 2017-04-28 -7.5 3.0 Likely benign 1 -36243 Simple 148311934 T . Pathogenic 2 4 Maturity-onset diabetes of the young, type 2;not provided 2017-10-11 21.0 1.75 Pathogenic 0 -36256 Simple 193922329 A . Pathogenic/Likely pathogenic 2 3 Maturity-onset diabetes of the young, type 2;not provided 2016-06-14 12.9 3.0 Pathogenic/Likely pathogenic 0 -36258 Simple 193922331 G . Likely pathogenic 2 3 Maturity-onset diabetes of the young, type 2;Diabetes mellitus, gestational;not provided 2017-04-06 6.6 3.3333333333333335 Likely pathogenic 0 -36261 Simple 193922334 C . Uncertain significance 2 2 Maturity-onset diabetes of the young, type 2;not specified 2016-08-10 -0.44999999999999996 3.5 Uncertain significance 0 -36263 Simple 193922335 A . Pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2017-10-30 9.0 3.0 Pathogenic/Likely pathogenic 1 -36269 Simple 145764627 G . Benign/Likely benign 2 2 Maturity-onset diabetes of the young, type 2;not specified 2015-09-08 -6.9 4.0 Likely benign 1 -36273 Simple 4988496 A . Benign/Likely benign 2 3 Idiopathic growth hormone deficiency;not specified;Isolated Growth Hormone Deficiency 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -36274 Simple 4988498 T . Benign/Likely benign 2 2 Idiopathic growth hormone deficiency;Isolated Growth Hormone Deficiency 2016-06-14 -6.0 3.5 Likely benign 1 -36275 Simple 4988499 G . Benign/Likely benign 2 2 Idiopathic growth hormone deficiency;Isolated Growth Hormone Deficiency 2016-06-14 -6.0 3.5 Likely benign 1 -36276 Simple 740336 T . Benign/Likely benign 2 2 Idiopathic growth hormone deficiency;Isolated Growth Hormone Deficiency 2016-06-14 -6.0 3.5 Likely benign 1 -36277 Simple 3751385 G . Benign 2 6 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -33.0 1.8333333333333333 Benign 0 -36278 Simple 7329857 A . Benign 2 6 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -33.0 1.8333333333333333 Benign 0 -36280 Simple 2071225 A . Benign 2 6 Fabry disease;Cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2017-06-19 -30.6 2.3333333333333335 Benign 0 -36281 Simple 63750681 G . Uncertain significance 2 2 beta Thalassemia;not specified 2016-11-15 -0.44999999999999996 3.5 Uncertain significance 0 -36285 Simple 33941377 T . Pathogenic/Likely pathogenic 2 2 beta Thalassemia;Beta thalassemia intermedia;not provided 2017-04-20 7.5 3.0 Likely pathogenic 1 -36292 Simple 34305195 G . Pathogenic/Likely pathogenic 2 2 beta Thalassemia;not provided 2017-06-08 7.5 3.0 Likely pathogenic 1 -36298 Simple 397515291 C . Uncertain significance 2 2 beta Thalassemia;not specified 2017-06-22 -0.44999999999999996 3.0 Uncertain significance 0 -36303 Simple 34282684 - . Pathogenic/Likely pathogenic 2 2 Beta thalassemia major;not provided 2017-06-30 7.5 3.0 Likely pathogenic 1 -36306 Simple 193922555 - . Pathogenic/Likely pathogenic 2 3 beta Thalassemia;Beta thalassemia major;not provided 2017-07-10 11.4 3.0 Pathogenic/Likely pathogenic 0 -36308 Simple 35699606 CC . Pathogenic 2 5 beta^0^ Thalassemia;beta Thalassemia;not provided;HBB-Related Disorders 2017-02-27 25.8 2.4 Pathogenic 0 -36309 Simple 34937014 TT . Pathogenic/Likely pathogenic 2 2 beta Thalassemia;not provided 2017-06-30 7.5 3.0 Likely pathogenic 1 -36310 Simple 33941849 G . Pathogenic/Likely pathogenic 2 3 beta^0^ Thalassemia;Beta-thalassemia, lermontov type;beta Thalassemia;not specified;not provided 2017-07-10 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -36311 Simple 34227486 T . Uncertain significance 2 2 beta Thalassemia;not specified 2017-06-20 -0.44999999999999996 3.0 Uncertain significance 0 -36312 Simple 35328027 C . Pathogenic/Likely pathogenic 2 2 Beta thalassemia intermedia;not specified 2017-06-22 7.5 3.0 Likely pathogenic 1 -36315 Simple 193922557 G . Likely benign 2 2 beta Thalassemia;not specified 2017-01-12 -4.5 3.5 Likely benign 0 -36316 Simple 1609812 A . Benign 2 2 beta Thalassemia;not specified 2015-05-15 -8.4 4.0 Benign/Likely benign 1 -36324 Simple 33935673 C . Uncertain significance 2 2 beta Thalassemia;not specified 2016-11-11 -0.44999999999999996 3.5 Uncertain significance 0 -36327 Simple 113082294 G . Likely benign 2 2 beta Thalassemia;not specified 2016-11-08 -4.5 3.5 Likely benign 0 -36331 Simple 34029390 G . Benign/Likely benign 2 3 beta Thalassemia;not specified 2017-06-07 -10.5 2.3333333333333335 Benign/Likely benign 0 -36332 Simple 33978907 G . Pathogenic 2 3 beta Thalassemia;Beta thalassemia intermedia;not specified;not provided 2017-06-30 15.0 2.0 Pathogenic 0 -36334 Simple 33956879 G . Pathogenic 2 2 beta Thalassemia;not provided 2017-06-14 9.0 3.0 Pathogenic/Likely pathogenic 1 -36337 Simple 33960103 T . Likely pathogenic 2 2 beta Thalassemia;not provided 2017-04-03 4.5 3.0 Likely pathogenic 0 -36343 Simple 61737145 T . Benign/Likely benign 2 3 Maturity-onset diabetes of the young, type 1;not specified 2017-07-12 -12.0 2.3333333333333335 Benign/Likely benign 0 -36345 Simple 147638455 G . Uncertain significance 2 3 Maturity-onset diabetes of the young, type 1;not specified 2017-05-31 -0.72 2.6666666666666665 Uncertain significance 0 -36351 Simple 113308087 C . Benign/Likely benign 2 3 Maturity-onset diabetes of the young, type 1;not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant 2016-06-14 -7.5 2.6666666666666665 Likely benign 1 -36357 Simple 139591750 G . Benign/Likely benign 2 2 Maturity-onset diabetes of the young, type 1;not specified 2015-05-22 -7.5 2.5 Likely benign 1 -36359 Simple 6031592 T . Benign/Likely benign 2 2 Maturity-onset diabetes of the young, type 1;not specified 2016-03-17 -4.5 3.5 Likely benign 1 -36371 Simple 17175350 G . Benign/Likely benign 2 2 Disseminated atypical mycobacterial infection;Interferon gamma receptor deficiency 2017-07-25 -7.5 3.0 Likely benign 1 -36376 Simple 4986958 G . Benign 2 2 Interferon gamma receptor deficiency;Immunodeficiency 28 2017-08-07 -9.0 3.0 Benign/Likely benign 1 -36384 Simple 193922346 A . Pathogenic/Likely pathogenic 2 2 X-linked severe combined immunodeficiency;not provided 2015-03-30 6.9 4.0 Likely pathogenic 1 -36386 Simple 193922348 G . Pathogenic/Likely pathogenic 2 2 X-linked severe combined immunodeficiency 2013-08-27 5.7 5.0 Likely pathogenic 1 -36389 Simple 137852508 A . Pathogenic 2 2 X-linked severe combined immunodeficiency;not provided 2016-09-29 9.0 3.5 Pathogenic/Likely pathogenic 1 -36396 Simple 193922645 T . Likely pathogenic 2 2 Severe combined immunodeficiency disease;not provided 2015-11-23 4.2 4.0 Likely pathogenic 0 -36399 Simple 5505 A . Benign/Likely benign 2 4 Segawa syndrome, autosomal recessive;Neonatal diabetes mellitus;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant/Recessive 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -36400 Simple 5507 A . Benign 2 1 Neonatal diabetes mellitus;not specified 2011-08-18 . 6.0 . 0 -36404 Simple 28509441 A . Benign/Likely benign 2 4 Maturity-onset diabetes of the young, type 4;not specified 2016-03-04 -15.9 3.75 Benign/Likely benign 0 -36416 Simple 193922362 A . Pathogenic/Likely pathogenic 2 2 Severe combined immunodeficiency disease;not provided 2016-08-23 7.5 3.5 Likely pathogenic 1 -36418 Simple 35458530 A . Benign 2 3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;Severe combined immunodeficiency disease;not specified 2017-07-31 -12.6 3.6666666666666665 Benign/Likely benign 1 -36419 Simple 2230589 A . Benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;Severe combined immunodeficiency disease;not specified 2017-07-31 -9.6 2.5 Benign/Likely benign 1 -36420 Simple 3212717 - . Benign 2 2 Severe combined immunodeficiency disease;not specified 2017-03-15 -9.0 3.0 Benign/Likely benign 1 -36422 Simple 55778349 C . Benign/Likely benign 2 4 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;Severe combined immunodeficiency disease;not specified;not provided 2017-07-24 -20.4 1.0 Benign/Likely benign 0 -36423 Simple 193922364 - . Pathogenic/Likely pathogenic 2 2 Severe combined immunodeficiency disease;not provided 2016-08-23 7.5 3.5 Likely pathogenic 1 -36424 Simple 116772523 A . Benign/Likely benign 2 4 Cardiac arrhythmia;Naxos disease;not specified;Cardiomyopathy, ARVC 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -36425 Simple 2230407 A . Benign/Likely benign 2 7 Cardiac arrhythmia;Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-07-27 -27.6 2.857142857142857 Benign 1 -36428 Simple 1805120 A . Benign/Likely benign 2 3 Cardiac arrhythmia;Long QT syndrome;not specified;Cardiovascular phenotype 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -36430 Simple 41282930 C . Benign/Likely benign 2 6 Neonatal diabetes mellitus;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive;Monogenic diabetes 2016-06-14 -20.1 2.5 Benign/Likely benign 0 -36431 Simple 80356611 T . Pathogenic/Likely pathogenic 2 2 Neonatal diabetes mellitus;not provided 2016-08-30 7.5 3.5 Likely pathogenic 1 -36434 Simple 7221086 T . Benign 2 6 Andersen Tawil syndrome;Cardiac arrhythmia;Short QT syndrome 3;short QT syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype 2017-08-01 -32.4 1.8333333333333333 Benign 0 -36436 Simple 11024034 C . Benign/Likely benign 2 8 Cardiac arrhythmia;short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2016-06-14 -25.2 2.625 Benign 1 -36437 Simple 1800172 A . Benign/Likely benign 2 8 Cardiac arrhythmia;short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-08-15 -30.6 1.375 Benign 1 -36438 Simple 34150427 A . Benign/Likely benign 2 8 Cardiac arrhythmia;short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-07-18 -30.0 1.5 Benign 1 -36440 Simple 193922648 - . Benign/Likely benign 2 2 Danon disease;Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;not specified 2015-05-20 -5.1 5.5 Likely benign 1 -36441 Simple 193922649 - . Likely pathogenic 2 2 Danon disease;Primary familial hypertrophic cardiomyopathy 2011-08-18 3.0 7.0 Uncertain significance 2 -36442 Simple 45555240 A . Benign 2 3 Myofibrillar myopathy, ZASP-related;Cardiomyopathy;not specified 2016-05-01 -12.0 5.333333333333333 Benign/Likely benign 1 -36443 Simple 45459491 T . Benign 2 3 Myofibrillar myopathy, ZASP-related;Cardiomyopathy;not specified 2016-04-29 -12.0 5.333333333333333 Benign/Likely benign 1 -36444 Simple 142625982 A . Benign/Likely benign 2 3 Myofibrillar myopathy, ZASP-related;Cardiomyopathy;not specified 2016-03-10 -9.9 3.3333333333333335 Benign/Likely benign 0 -36445 Simple 45618633 A . Benign 2 4 Myofibrillar myopathy, ZASP-related;Cardiomyopathy;not specified 2017-08-02 -16.2 4.75 Benign/Likely benign 1 -36447 Simple 45592139 T . Benign/Likely benign 2 8 Myofibrillar myopathy, ZASP-related;Cardiomyopathy;not specified;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-26 -31.2 2.25 Benign 1 -36449 Simple 34423165 G . Benign/Likely benign 2 9 Myofibrillar myopathy, ZASP-related;Cardiomyopathy;not specified;not provided;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-02 -31.8 2.111111111111111 Benign 1 -36450 Simple 193922566 A . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia;not provided 2017-04-11 19.2 1.8333333333333333 Pathogenic 1 -36455 Simple 193922567 A . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia;not provided 2017-08-21 35.4 1.5714285714285714 Pathogenic 1 -36458 Simple 193922569 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia;not provided 2017-06-02 13.5 2.3333333333333335 Pathogenic/Likely pathogenic 0 -36463 Simple 193922571 A . Likely pathogenic 2 4 Familial hypercholesterolemia 2016-12-16 10.2 2.5 Pathogenic/Likely pathogenic 1 -36473 Simple 386134243 T . Pathogenic/Likely pathogenic 2 5 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome;Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;Charcot-Marie-Tooth disease type 2B1;Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Heart-hand syndrome, Slovenian type;Hutchinson-Gilford syndrome;Familial partial lipodystrophy 2;Mandibuloacral dysostosis;Limb-girdle muscular dystrophy, type 1B;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;not provided 2017-06-15 21.9 2.0 Pathogenic 1 -36474 Simple 534807 A . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified;not provided 2013-09-19 -5.7 7.0 Likely benign 1 -36477 Simple 80356813 A . Benign/Likely benign 2 6 Charcot-Marie-Tooth disease, type 2;Cardiomyopathy;not specified;Cardiovascular phenotype 2017-07-05 -21.6 2.0 Benign/Likely benign 0 -36479 Simple 11549668 T . Benign/Likely benign 2 17 Primary dilated cardiomyopathy;Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;not provided;Familial partial lipodystrophy;Cardiovascular phenotype;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -57.6 1.7647058823529411 Benign 1 -36480 Simple 11264444 T . Benign 2 16 Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Emery-Dreifuss muscular dystrophy;Cardiomyopathy;Mandibuloacral dysplasia;not specified;not provided;Familial partial lipodystrophy;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-11-29 -88.8 1.75 Benign 0 -36484 Simple 138281308 T . Uncertain significance 2 2 Obesity;Monogenic diabetes 2015-10-16 -0.42000000000000004 4.0 Uncertain significance 0 -36492 Simple 193922678 T . Uncertain significance 2 3 Rett syndrome;not specified 2016-06-17 -0.75 2.6666666666666665 Uncertain significance 0 -36500 Simple 224208 T . Benign/Likely benign 2 3 Familial Mediterranean fever;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -36501 Simple 76464258 A . Benign 2 2 Familial Mediterranean fever;not specified 2017-07-18 -12.0 0.5 Benign/Likely benign 1 -36503 Simple 224206 G . Benign/Likely benign 2 3 Familial Mediterranean fever;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -36504 Simple 77380520 A . Benign 2 4 Familial Mediterranean fever;not specified 2017-07-18 -19.8 2.5 Benign/Likely benign 1 -36505 Simple 1231122 T . Benign 2 4 Familial Mediterranean fever;not specified 2016-02-17 -18.6 3.25 Benign/Likely benign 1 -36507 Simple 28940580 G . Pathogenic 2 6 Familial Mediterranean fever;Familial mediterranean fever, autosomal dominant;not specified;not provided 2017-06-26 31.8 1.6666666666666667 Pathogenic 0 -36508 Simple 2234939 T . Benign/Likely benign 2 2 Familial Mediterranean fever;not specified 2017-08-07 -7.5 3.0 Likely benign 1 -36509 Simple 224225 G . Benign/Likely benign 2 4 Familial Mediterranean fever;not specified 2016-06-14 -16.8 2.75 Benign/Likely benign 0 -36510 Simple 224224 C . Benign/Likely benign 2 5 Familial Mediterranean fever;not specified 2016-06-14 -19.8 3.4 Benign/Likely benign 0 -36511 Simple 224223 T . Benign/Likely benign 2 4 Familial Mediterranean fever;not specified 2016-06-14 -16.8 2.75 Benign/Likely benign 0 -36512 Simple 224222 T . Benign/Likely benign 2 4 Familial Mediterranean fever;not specified 2016-06-14 -16.8 2.75 Benign/Likely benign 0 -36515 Simple 224213 A . Benign/Likely benign 2 3 Familial Mediterranean fever;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -36516 Simple 11466016 A . Uncertain significance 2 2 Familial Mediterranean fever;not specified 2016-04-14 -0.44999999999999996 3.5 Uncertain significance 0 -36523 Simple 386134249 T . Likely pathogenic 2 5 Multiple endocrine neoplasia, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-05-15 12.9 2.0 Pathogenic/Likely pathogenic 1 -36525 Simple 386134250 C . Pathogenic/Likely pathogenic 2 4 Multiple endocrine neoplasia, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-03-30 16.5 1.75 Pathogenic 1 -36526 Simple 386134251 - . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided 2017-05-25 13.8 3.0 Pathogenic/Likely pathogenic 1 -36539 Simple 193922367 A . Benign 3 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2016-04-20 -26.4 2.2 Benign 0 -36540 Simple 63750540 T . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 31.62 1.8333333333333333 Pathogenic 0 -36541 Simple 41562513 A . Benign 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -22.62 4.0 Benign/Likely benign 1 -36542 Simple 9876116 G . Benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -28.02 3.3333333333333335 Benign 0 -36545 Simple 35045067 G . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.581 1.8333333333333333 Uncertain significance 0 -36546 Simple 1800146 T . Benign 3 9 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -44.22 2.7777777777777777 Benign 0 -36547 Simple 2020873 T . Benign 3 11 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -45.12 2.909090909090909 Benign 0 -36549 Simple 193922366 - . Benign 3 4 Lynch syndrome;not specified;not provided 2013-09-05 -16.62 3.0 Benign/Likely benign 1 -36550 Simple 63751221 T . Pathogenic 3 9 Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 47.22 1.7777777777777777 Pathogenic 0 -36551 Simple 4647245 G . Benign 3 2 Lynch syndrome 2013-09-05 -7.62 5.0 Likely benign 2 -36552 Simple 4647246 G . Benign 3 2 Lynch syndrome;not specified 2013-09-05 -7.62 5.0 Likely benign 2 -36553 Simple 193922370 A . Pathogenic 3 2 Lynch syndrome 2013-09-05 7.62 5.0 Likely pathogenic 2 -36554 Simple 121909453 T . Benign 2 3 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-12-21 -15.0 2.6666666666666665 Benign/Likely benign 1 -36555 Simple 4647258 C . Benign 3 4 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2014-10-10 -17.880000000000003 2.5 Benign/Likely benign 1 -36556 Simple 55658850 T . Likely benign 3 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -7.710000000000001 3.0 Likely benign 0 -36557 Simple 1799977 G . Benign 3 10 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 -45.42 2.9 Benign 0 -36558 Simple 35908749 A . Likely benign 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -17.61 2.6 Benign/Likely benign 1 -36559 Simple 138705565 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -36560 Simple 2020872 G . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.101 1.5 Uncertain significance 0 -36561 Simple 63750245 T . Pathogenic 3 2 Lynch syndrome 2013-09-05 7.62 5.0 Likely pathogenic 2 -36562 Simple 17224360 C . Benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -38.82 2.875 Benign 0 -36564 Simple 2347794 A . Benign 3 2 Lynch syndrome 2013-09-05 -7.62 5.0 Likely benign 2 -36565 Simple 187525243 T . Likely benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -29.91 2.4285714285714284 Benign 2 -36566 Simple 12998837 T . Benign 3 10 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -42.42 3.5 Benign 0 -36567 Simple 3732183 A . Benign 3 10 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -43.62 3.3 Benign 0 -36568 Simple 61756466 C . Benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -34.62 2.7142857142857144 Benign 0 -36569 Simple 63750393 - . Pathogenic 3 7 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 37.62 1.8571428571428572 Pathogenic 0 -36570 Simple 61756467 G . Likely benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -26.61 2.857142857142857 Benign 2 -36571 Simple 2303428 C . Benign 3 9 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -37.62 3.6666666666666665 Benign 0 -36572 Simple 63749932 T . Pathogenic 3 9 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 47.82 1.8888888888888888 Pathogenic 0 -36573 Simple 2303426 G . Benign 3 10 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -44.82 2.9 Benign 0 -36575 Simple 193922373 A . Likely benign 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.45 1.8 Uncertain significance 2 -36576 Simple 35898375 A . Benign 3 9 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -38.4 2.6666666666666665 Benign 0 -36577 Simple 17217772 G . Benign 3 8 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -31.32 2.625 Benign 0 -36578 Simple 193922374 G . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -36579 Simple 193922375 GG . Pathogenic/Likely pathogenic 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-07-21 12.9 2.6666666666666665 Pathogenic/Likely pathogenic 0 -36580 Simple 193922376 T . Pathogenic 3 11 Lynch syndrome I;Colorectal cancer, hereditary, nonpolyposis, type 1;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 57.42 2.090909090909091 Pathogenic 0 -36581 Simple 1042821 A . Benign 3 10 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -47.82 2.4 Benign 0 -36582 Simple 2020908 G . Benign 3 11 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -54.42 2.1818181818181817 Benign 0 -36583 Simple 3136333 T . Benign 2 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-11 -28.2 3.0 Benign 0 -36584 Simple 1042820 A . Benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -35.22 3.125 Benign 0 -36585 Simple 2020913 C . Benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -34.62 3.125 Benign 0 -36586 Simple 193922342 G . Benign/Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -12.9 2.3333333333333335 Benign/Likely benign 0 -36587 Simple 1800932 G . Benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -35.22 3.125 Benign 0 -36589 Simple 2020910 A . Benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -34.02 3.25 Benign 0 -36592 Simple 3136363 - . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.381 5.0 Uncertain significance 0 -36593 Simple 193922343 - . Pathogenic 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.02 1.3333333333333333 Pathogenic 0 -36594 Simple 3136367 G . Benign 3 2 Lynch syndrome;not specified 2013-09-05 -7.62 5.0 Likely benign 2 -36595 Simple 2229018 T . Benign/Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-26 -9.0 2.0 Benign/Likely benign 0 -36596 Simple 41294988 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.401 1.4 Uncertain significance 0 -36597 Simple 1800935 C . Benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -32.22 2.7142857142857144 Benign 0 -36598 Simple 193922344 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -36599 Simple 1800937 T . Benign 3 9 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -36.42 3.7777777777777777 Benign 0 -36600 Simple 193922345 G . Likely benign 2 2 Lynch syndrome;not specified 2016-09-23 -4.5 3.5 Likely benign 0 -36601 Simple 193922377 T . Uncertain significance 2 4 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-06-20 -1.08 1.5 Uncertain significance 0 -36603 Simple 193922378 A . Benign/Likely benign 2 3 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-05-04 -11.4 1.3333333333333333 Benign/Likely benign 0 -36604 Simple 36211723 T . Pathogenic/Likely pathogenic 2 7 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-10-12 23.7 2.142857142857143 Pathogenic 1 -36605 Simple 187830361 G . Pathogenic/Likely pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-11 15.9 2.0 Pathogenic 1 -36609 Simple 193922382 A . Likely benign 2 4 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-09-11 -11.4 0.75 Benign/Likely benign 1 -36611 Simple 193922383 T . Pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-04-27 18.0 3.25 Pathogenic 0 -36615 Simple 193922386 T . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided 2016-11-09 12.3 3.3333333333333335 Pathogenic/Likely pathogenic 0 -36616 Simple 12931799 A . Benign/Likely benign 2 6 Familial aortopathy;Thoracic aortic aneurysm and aortic dissection;not specified 2016-08-21 -24.6 3.3333333333333335 Benign 1 -36617 Simple 148682361 T . Benign/Likely benign 2 3 Aortic aneurysm, familial thoracic 4;Familial aortopathy;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-21 -13.2 1.6666666666666667 Benign/Likely benign 0 -36619 Simple 193922630 A . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 6;Aortic aneurysm, familial thoracic 4;Familial aortopathy;not specified 2017-06-26 -24.3 1.8 Benign 1 -36620 Simple 112990531 T . Benign/Likely benign 2 3 Aortic aneurysm, familial thoracic 4;Familial aortopathy;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-31 -9.9 2.0 Benign/Likely benign 0 -36621 Simple 11648119 T . Benign/Likely benign 2 7 Aortic aneurysm, familial thoracic 4;Familial aortopathy;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2017-08-16 -30.0 2.2857142857142856 Benign 1 -36625 Simple 34839877 A . Benign/Likely benign 2 6 Familial aortopathy;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-06-14 -21.6 3.3333333333333335 Benign/Likely benign 0 -36629 Simple 150081280 C . Likely benign 2 5 Familial hypertrophic cardiomyopathy 14;Cardiomyopathy;not specified;Cardiovascular phenotype 2017-09-11 -12.9 2.0 Benign/Likely benign 1 -36634 Simple 78107039 A . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;Cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-04 -30.0 1.5714285714285714 Benign 1 -36641 Simple 141764279 T . Uncertain significance 3 8 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 -9.78 1.625 Benign/Likely benign 3 -36642 Simple 193922390 T . Likely pathogenic 3 7 Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2016-12-15 18.99 2.142857142857143 Pathogenic 2 -36646 Simple 2233261 T . Benign 2 5 Familial hypertrophic cardiomyopathy 10;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2017-08-10 -21.6 4.2 Benign/Likely benign 1 -36647 Simple 193922452 A . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 2016-06-14 -0.44999999999999996 3.5 Uncertain significance 0 -36649 Simple 76530988 A . Benign/Likely benign 2 4 Cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2016-06-14 -13.2 4.25 Benign/Likely benign 0 -36650 Simple 55807353 A . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 1;Cardiomyopathy;not specified 2017-07-11 -10.2 2.6666666666666665 Benign/Likely benign 0 -36651 Simple 6060980 G . Benign/Likely benign 2 4 Cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2016-06-14 -13.8 4.0 Benign/Likely benign 0 -36654 Simple 41293106 T . Benign 2 3 Familial hypertrophic cardiomyopathy 1;Cardiomyopathy;not specified 2017-07-23 -14.4 2.6666666666666665 Benign/Likely benign 1 -36657 Simple 72554029 G . Benign/Likely benign 2 4 Atrial septal defect 7 with or without atrioventricular conduction defects;not specified 2017-08-04 -13.5 1.75 Benign/Likely benign 0 -36658 Simple 72554028 T . Benign/Likely benign 2 7 Atrial septal defect 7 with or without atrioventricular conduction defects;Atrial septal defect;not specified 2017-08-08 -32.4 2.4285714285714284 Benign 1 -36663 Simple 5064 A . Benign 2 1 Cardiac arrhythmia;not specified 2011-08-18 . 6.0 . 0 -36665 Simple 386134263 A . Pathogenic/Likely pathogenic 2 2 Congenital adrenal hypoplasia, X-linked 2017-09-20 7.5 3.0 Likely pathogenic 1 -36666 Simple 45448095 T . Benign/Likely benign 2 4 Familial hypobetalipoproteinemia;Familial hypercholesterolemia 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -36668 Simple 28362269 T . Benign 2 1 Familial hypercholesterolemia;not specified 2011-08-18 . 6.0 . 0 -36669 Simple 11583680 T . Benign/Likely benign 2 7 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-22 -31.8 1.8571428571428572 Benign 1 -36670 Simple 505151 A . Benign/Likely benign 2 7 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-22 -31.8 1.8571428571428572 Benign 1 -36671 Simple 11800231 A . Benign/Likely benign 2 5 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-22 -20.4 2.0 Benign/Likely benign 0 -36672 Simple 2483205 T . Benign/Likely benign 2 6 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-22 -26.4 1.8333333333333333 Benign 1 -36678 Simple 193922459 C . Likely pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2016-07-26 4.5 3.5 Likely pathogenic 0 -36680 Simple 193922672 T . Pathogenic/Likely pathogenic 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-07-17 19.8 1.5 Pathogenic 1 -36684 Simple 185681814 C . Uncertain significance 2 2 Cardiomyopathy;not specified 2017-06-21 -0.44999999999999996 3.0 Uncertain significance 0 -36685 Simple 1805321 A . Benign 3 8 Lynch syndrome I;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 -39.42 2.125 Benign 0 -36686 Simple 2228006 T . Benign 3 6 Lynch syndrome;not specified;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 -28.62 3.0 Benign 0 -36687 Simple 55954143 A . Benign 3 6 Lynch syndrome;not specified 2013-09-05 -27.42 2.0 Benign 0 -36688 Simple 1805325 G . Benign 3 9 Lynch syndrome I;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -44.82 2.6666666666666665 Benign 0 -36689 Simple 17420802 C . Benign 3 8 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -36.09 2.375 Benign 0 -36690 Simple 10000 G . Benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -37.62 2.5 Benign 0 -36691 Simple 1802683 G . Benign 3 6 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 -29.82 2.0 Benign 0 -36692 Simple 62456182 C . Benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -28.02 3.3333333333333335 Benign 0 -36693 Simple 1805319 C . Benign 3 9 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -42.42 2.4444444444444446 Benign 0 -36698 Simple 193922697 T . Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 6;Cardiomyopathy 2017-02-09 4.5 3.5 Likely pathogenic 0 -36699 Simple 2233784 T . Likely benign 2 2 Pituitary hormone deficiency, combined;Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 -4.5 3.5 Likely benign 0 -36708 Simple 61736914 T . Benign 3 10 Metachondromatosis;Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardiovascular phenotype 2017-04-18 -44.4 1.9 Benign 0 -36709 Simple 184804143 A . Benign 3 5 Noonan syndrome;not specified;not provided;Rasopathy 2017-04-18 -24.3 0.8 Benign 0 -36711 Simple 34357808 G . Benign/Likely benign 2 4 Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;Severe combined immunodeficiency disease;Severe Combined Immune Deficiency 2017-08-04 -13.5 2.0 Benign/Likely benign 0 -36714 Simple 193922464 T . Pathogenic/Likely pathogenic 2 2 Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;Severe combined immunodeficiency disease 2016-01-13 6.9 4.0 Likely pathogenic 1 -36715 Simple 4151030 A . Benign/Likely benign 2 5 Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;Severe combined immunodeficiency disease;not specified;not provided;Severe Combined Immune Deficiency 2017-08-07 -21.0 1.8 Benign/Likely benign 0 -36718 Simple 193922573 T . Likely pathogenic 2 2 Severe combined immunodeficiency disease;not provided 2015-12-21 4.2 4.0 Likely pathogenic 0 -36723 Simple 145633958 A . Benign/Likely benign 2 5 Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hirschsprung disease;not specified;not provided;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia 2017-08-07 -24.0 1.6 Benign 1 -36729 Simple 138073811 T . Benign/Likely benign 2 5 Cardiomyopathy;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-08-07 -20.7 2.4 Benign/Likely benign 0 -36730 Simple 193922621 T . Benign/Likely benign 2 3 Cardiac arrhythmia;not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-04-06 -10.2 2.6666666666666665 Benign/Likely benign 0 -36732 Simple 141528541 G . Benign/Likely benign 2 3 Cardiomyopathy;not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -36733 Simple 112864477 T . Benign 2 4 Cardiomyopathy;not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-22 -18.0 3.25 Benign/Likely benign 1 -36735 Simple 790897 G . Benign/Likely benign 2 4 Cardiomyopathy;not specified;not provided;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-06-16 -15.0 2.0 Benign/Likely benign 0 -36736 Simple 78281932 A . Benign/Likely benign 2 5 Cardiomyopathy;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-15 -20.4 2.0 Benign/Likely benign 0 -36737 Simple 17686573 T . Benign/Likely benign 2 6 Cardiomyopathy;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-05 -25.8 2.0 Benign 1 -36738 Simple 147479514 G . Benign/Likely benign 2 4 Cardiomyopathy;not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-08 -15.6 1.75 Benign/Likely benign 0 -36741 Simple 11331089 - . Benign/Likely benign 2 3 Cardiomyopathy;not specified 2014-11-12 -9.9 4.666666666666667 Benign/Likely benign 0 -36746 Simple 41315858 A . Benign/Likely benign 2 8 Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-17 -35.4 2.25 Benign 1 -36747 Simple 3766871 A . Benign/Likely benign 2 7 Cardiomyopathy;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-15 -28.8 2.5714285714285716 Benign 1 -36748 Simple 72549416 T . Benign/Likely benign 2 6 Cardiomyopathy;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-18 -22.8 2.0 Benign/Likely benign 0 -36749 Simple 143906555 T . Benign/Likely benign 2 5 Cardiac arrhythmia;not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-21 -19.8 2.2 Benign/Likely benign 0 -36750 Simple 34967813 G . Benign/Likely benign 2 7 Cardiomyopathy;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -26.400000000000002 3.2857142857142856 Benign 1 -36751 Simple 7580482 C . Benign/Likely benign 2 4 Familial hemiplegic migraine type 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Familial hemiplegic migraine;Seizure Disorders;not specified 2017-04-15 -23.4 1.0 Benign/Likely benign 0 -36752 Simple 6432860 G . Benign/Likely benign 2 4 Familial hemiplegic migraine type 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Familial hemiplegic migraine;Seizure Disorders;Generalized epilepsy with febrile seizures plus;not specified 2017-04-15 -23.4 1.0 Benign/Likely benign 0 -36753 Simple 2298771 T . Benign/Likely benign 2 4 Familial hemiplegic migraine;Seizure Disorders;Generalized epilepsy with febrile seizures plus;not specified 2016-06-14 -21.6 2.0 Benign/Likely benign 0 -36754 Simple 36031496 G . Benign/Likely benign 2 8 Familial hemiplegic migraine type 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy 2017-08-07 -33.0 2.625 Benign 1 -36756 Simple 67486287 C . Benign 2 2 Cardiac arrhythmia;not specified 2013-07-22 -8.4 4.0 Benign/Likely benign 1 -36759 Simple 193922725 A . Likely benign 2 2 Cardiac arrhythmia;Brugada syndrome 2017-04-28 -4.5 3.0 Likely benign 0 -36760 Simple 41258454 A . Benign 2 4 Cardiomyopathy;Brugada syndrome;not specified 2017-08-04 -17.4 3.5 Benign/Likely benign 1 -36761 Simple 41311123 T . Benign/Likely benign 2 5 Cardiomyopathy;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-05 -21.0 3.8 Benign/Likely benign 0 -36763 Simple 45548237 A . Benign/Likely benign 2 5 Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-15 -22.5 2.4 Benign/Likely benign 0 -36766 Simple 193922727 T . Benign/Likely benign 2 3 Cardiomyopathy;Brugada syndrome;not specified 2017-06-21 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -36770 Simple 386134266 GAAGAAGAAGAA . Benign/Likely benign 2 2 Pheochromocytoma;not specified 2017-08-22 -6.0 3.0 Likely benign 1 -36771 Simple 193922392 C . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy, type 2F;Cardiomyopathy;not specified 2017-08-09 -14.4 3.0 Benign/Likely benign 0 -36772 Simple 11748588 C . Benign/Likely benign 2 6 Limb-girdle muscular dystrophy, type 2F;Delta-sarcoglycanopathy;Cardiomyopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-25 -23.4 2.1666666666666665 Benign/Likely benign 0 -36776 Simple 142306835 T . Benign/Likely benign 2 1 Short stature, idiopathic, X-linked;not specified 2013-10-21 . 4.0 . 0 -36779 Simple 141634296 T . Uncertain significance 2 3 Hereditary pancreatitis;not specified 2017-04-03 -0.75 2.3333333333333335 Uncertain significance 0 -36780 Simple 193922659 - . Pathogenic 2 2 Hereditary pancreatitis;not specified 2017-06-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -36781 Simple 35877720 G . Benign/Likely benign 2 5 Hereditary pancreatitis;not specified;not provided 2017-08-15 -19.5 1.4 Benign/Likely benign 0 -36784 Simple 193922717 T . Pathogenic/Likely pathogenic 2 2 Hyperimmunoglobulin E syndrome;Autoimmune disease, multisystem, infantile-onset, 1 2014-10-30 6.3 4.5 Likely pathogenic 1 -36787 Simple 17882035 C . Benign/Likely benign 2 2 Hyperimmunoglobulin E syndrome;Hyper-IgE syndrome 2016-06-14 -6.0 3.5 Likely benign 1 -36795 Simple 17847497 G . Likely benign 2 2 Maturity-onset diabetes of the young, type 3;Maturity-onset diabetes of the young 2016-06-14 -4.5 3.5 Likely benign 0 -36814 Simple 193922592 G . Pathogenic/Likely pathogenic 2 2 Maturity-onset diabetes of the young, type 3;not provided 2016-09-19 7.5 3.5 Likely pathogenic 1 -36818 Simple 80051981 A . Benign 2 2 Maturity-onset diabetes of the young, type 3;not specified 2015-06-19 -8.4 4.0 Benign/Likely benign 1 -36832 Simple 137853245 G . Likely pathogenic 2 2 Maturity-onset diabetes of the young, type 3;not provided 2016-10-26 4.5 3.5 Likely pathogenic 0 -36841 Simple 140781855 A . Benign/Likely benign 2 3 Familial hypoplastic, glomerulocystic kidney;not specified 2016-08-17 -7.5 2.6666666666666665 Likely benign 1 -36842 Simple 386134268 G . Uncertain significance 2 2 Familial hypoplastic, glomerulocystic kidney;not specified 2017-02-14 -0.44999999999999996 3.5 Uncertain significance 0 -36847 Simple 59527848 A . Benign 2 2 Familial hypoplastic, glomerulocystic kidney;not specified 2014-07-10 -7.8 4.5 Likely benign 2 -36852 Simple 139107479 A . Benign/Likely benign 2 4 Familial hypoplastic, glomerulocystic kidney;not specified 2016-08-08 -15.9 2.5 Benign/Likely benign 0 -36853 Simple 144249535 A . Likely benign 2 1 Familial hypoplastic, glomerulocystic kidney;not specified 2011-08-18 . 6.0 . 0 -36855 Simple 145750370 C . Likely benign 2 3 Familial hypoplastic, glomerulocystic kidney;not specified 2016-05-25 -7.2 3.0 Likely benign 0 -36857 Simple 7861780 C . Benign/Likely benign 2 8 Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-14 -29.4 2.375 Benign 1 -36864 Simple 193922663 C . Likely benign 2 2 Loeys-Dietz syndrome;not specified 2015-12-02 -4.2 4.0 Likely benign 0 -36865 Simple 2228047 G . Benign 2 8 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-05 -39.0 3.125 Benign 0 -36867 Simple 1155705 G . Benign 2 7 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-08-15 -33.6 3.5714285714285716 Benign 0 -36869 Simple 193922666 T . Benign/Likely benign 2 6 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-02-21 -18.3 2.1666666666666665 Benign/Likely benign 0 -36871 Simple 113745859 T . Benign/Likely benign 2 3 Cardiomyopathy;not specified;Cardiomyopathy, ARVC 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -36872 Simple 193922707 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy, ARVC 2016-06-14 -0.44999999999999996 3.5 Uncertain significance 0 -36873 Simple 113449357 T . Benign/Likely benign 2 6 Arrhythmogenic right ventricular cardiomyopathy, type 5;Cardiomyopathy;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-11 -25.8 2.8333333333333335 Benign 1 -36874 Simple 35761089 C . Benign/Likely benign 2 6 Loeys-Dietz syndrome 2;Cardiomyopathy;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-10 -27.0 2.5 Benign 1 -36875 Simple 35998138 G . Benign/Likely benign 2 6 Loeys-Dietz syndrome 2;Cardiomyopathy;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-10 -27.0 2.5 Benign 1 -36876 Simple 35645287 G . Benign/Likely benign 2 6 Loeys-Dietz syndrome 2;Cardiomyopathy;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-10 -27.0 2.5 Benign 1 -36877 Simple 35969221 G . Benign/Likely benign 2 6 Loeys-Dietz syndrome 2;Cardiomyopathy;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-28 -27.0 2.5 Benign 1 -36878 Simple 56063729 G . Benign/Likely benign 2 4 Common variable immunodeficiency 2;not specified;Common Variable Immune Deficiency, Dominant 2017-07-21 -16.5 2.0 Benign/Likely benign 0 -36879 Simple 8072293 T . Benign 2 4 Common variable immunodeficiency 2;not specified;Common Variable Immune Deficiency, Dominant 2016-12-08 -21.0 2.25 Benign/Likely benign 1 -36881 Simple 7252610 C . Benign/Likely benign 2 5 Primary familial hypertrophic cardiomyopathy;Primary ciliary dyskinesia;not specified;Nemaline Myopathy, Recessive 2016-06-14 -17.4 3.6 Benign/Likely benign 0 -36883 Simple 193922409 T . Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2015-12-24 4.2 4.0 Likely pathogenic 0 -36884 Simple 45490292 T . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;Primary familial hypertrophic cardiomyopathy;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-08-17 -23.1 2.142857142857143 Benign/Likely benign 0 -36890 Simple 121918076 A . Pathogenic/Likely pathogenic 2 2 Amyloidogenic transthyretin amyloidosis;not provided 2017-02-27 7.5 3.5 Likely pathogenic 1 -36892 Simple 36204272 C . Benign 2 3 Cardiomyopathy;not specified 2016-04-04 -14.4 3.0 Benign/Likely benign 1 -36896 Simple 140766884 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1W;Cardiomyopathy;not specified;Cardiovascular phenotype 2017-08-09 -18.3 3.0 Benign/Likely benign 0 -36897 Simple 56314318 A . Benign/Likely benign 2 6 Dilated cardiomyopathy 1W;Cardiomyopathy;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-07 -24.6 3.3333333333333335 Benign 1 -36898 Simple 56413529 C . Benign/Likely benign 2 6 Dilated cardiomyopathy 1W;Cardiomyopathy;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-11 -24.6 3.3333333333333335 Benign 1 -36899 Simple 193922608 T . Likely pathogenic 2 3 Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 7.5 2.3333333333333335 Likely pathogenic 0 -36900 Simple 193922609 C . Pathogenic/Likely pathogenic 2 3 Von Hippel-Lindau syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-12 9.9 3.0 Pathogenic/Likely pathogenic 0 -36901 Simple 61758376 C . Benign/Likely benign 2 7 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-11 -31.2 1.8571428571428572 Benign 1 -36906 Simple 193922614 A . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome 2016-04-06 -4.5 3.5 Likely benign 0 -37038 Simple 1800693 C . Benign/Likely benign, risk factor 2 3 not specified;Multiple sclerosis, susceptibility to, 5;Familial Periodic Fever 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -37039 Simple 387907267 A . Pathogenic/Likely pathogenic 2 6 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-11-03 33.0 1.3333333333333333 Pathogenic 1 -37042 Simple 369698072 T . Pathogenic 2 2 Short stature, optic nerve atrophy, and Pelger-Huet anomaly;not provided 2017-09-13 12.0 0.0 Pathogenic/Likely pathogenic 1 -37089 Simple 207482230 T . Pathogenic 2 2 Neuropathy, hereditary motor and sensory, Okinawa type;not provided 2016-02-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -37102 Simple 79658334 A . Pathogenic/Likely pathogenic 2 8 Congenital central hypoventilation;Hirschsprung disease 1;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 47.4 0.5 Pathogenic 1 -37107 Simple 80356537 T . Pathogenic 2 6 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss;Dystonia 12;Alternating hemiplegia of childhood 2;not provided 2017-05-18 31.8 2.0 Pathogenic 0 -37108 Simple 387907281 T . Pathogenic 2 2 Dystonia 12;Alternating hemiplegia of childhood 2;not provided 2017-10-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -37110 Simple 398122887 T . Pathogenic 2 2 Dystonia 12;Seizure Disorders;Alternating hemiplegia of childhood 2;not provided;Hemiplegia 2016-10-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -37123 Simple 1050828 T . drug response 3 8 Favism, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD ASAHI;not specified;not provided;chlorproguanil and dapsone response - Toxicity/ADR . 44.4 1.375 . 0 -37134 Simple 150726175 A . Pathogenic/Likely pathogenic 2 3 Leber congenital amaurosis 9;Leber congenital amaurosis;not provided 2017-08-09 15.0 0.3333333333333333 Pathogenic 1 -37203 Simple 5030872 A . Pathogenic, other 2 2 Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD MALAGA;not specified 2017-05-24 9.6 3.0 Pathogenic/Likely pathogenic 1 -37255 Simple 151344631 A . Pathogenic 2 2 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-04-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -37261 Simple 387907306 A . Pathogenic 2 1 Shprintzen-Goldberg syndrome;not provided 2015-02-01 . 3.0 . 0 -37262 Simple 387907306 T . Pathogenic 2 1 Shprintzen-Goldberg syndrome 2017-06-15 . 0.0 . 0 -37340 Simple 1695 G . drug response 3 0 cyclophosphamide and epirubicin response - Efficacy, Toxicity/ADR;fluorouracil and oxaliplatin response - Efficacy;Platinum compounds response - Toxicity/ADR;Colorectal Neoplasms . . . . 0 -37344 Simple 9934438 A . drug response 3 1 Warfarin response;acenocoumarol response - Dosage;phenprocoumon response - Dosage;warfarin response - Dosage;Vitamin K-Dependent Clotting Factors . . 1.0 . 0 -37345 Simple 1800595 C . Benign/Likely benign 2 1 Thrombophilia due to activated protein C resistance;not specified 2016-06-14 . 1.0 . 0 -37346 Simple 4149056 C . drug response 3 2 Rotor syndrome;not specified;not provided;cerivastatin response - Toxicity/ADR;hmg coa reductase inhibitors response - Toxicity/ADR;pravastatin response - Metabolism/PK;rosuvastatin response - Other;simvastatin response - Toxicity/ADR;hmg coa reductase inhibitors response - Toxicity/ADR, Metabolism/PK . -12.0 0.5 . 0 -37359 Simple 111033693 T . Pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided 2016-10-27 10.2 2.5 Pathogenic/Likely pathogenic 1 -37375 Simple 186964570 A . Benign 3 14 Familial hypertrophic cardiomyopathy 1;Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-15 -37.77 1.8571428571428572 Benign 0 -37376 Simple 397507177 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-03-21 11.4 1.0 Pathogenic/Likely pathogenic 1 -37377 Simple 397507178 TT . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-04-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -37378 Simple 397507179 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-23 -0.6 1.0 Uncertain significance 0 -37379 Simple 201120953 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-04 -0.6 0.0 Uncertain significance 0 -37382 Simple 2230017 T . Benign/Likely benign 2 6 Nijmegen breakage syndrome-like disorder;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-15 -26.4 2.0 Benign 1 -37383 Simple 199802777 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -37384 Simple 28903094 T . Benign/Likely benign 2 5 Familial cancer of breast;Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -17.4 2.6 Benign/Likely benign 0 -37385 Simple 148269640 T . Benign/Likely benign 2 4 Familial cancer of breast;Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-08-11 -16.2 2.25 Benign/Likely benign 0 -37386 Simple 80357618 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -37387 Simple 80357774 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-04-22 18.0 1.3333333333333333 Pathogenic 0 -37388 Simple 80356961 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -1.17 0.75 Uncertain significance 0 -37390 Simple 56056711 T . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -16.95 1.8 Benign/Likely benign 1 -37391 Simple 80357612 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -37398 Simple 397507184 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-28 -1.2 0.25 Uncertain significance 0 -37401 Simple 80357597 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37402 Simple 80356863 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.74 0.8333333333333334 Uncertain significance 0 -37404 Simple 80358158 A . Pathogenic 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-12 34.2 1.0 Pathogenic 0 -37406 Simple 80357969 - . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 51.6 1.3333333333333333 Pathogenic 0 -37409 Simple 273897659 C . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -37411 Simple 397507187 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -1.14 1.0 Uncertain significance 0 -37412 Simple 80357637 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -37413 Simple 80357801 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -37415 Simple 80357010 A . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 44.4 1.875 Pathogenic 0 -37416 Simple 28897676 A . Benign 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer 2015-08-10 -37.980000000000004 1.9 Benign 0 -37417 Simple 80357888 - . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome;Dysgerminoma;DYSGERMINOMA 2016-04-22 52.8 1.1111111111111112 Pathogenic 0 -37418 Simple 80357908 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 1.75 Pathogenic 0 -37423 Simple 56012641 G . Benign 3 13 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -44.910000000000004 2.1538461538461537 Benign 0 -37425 Simple 80357600 - . Pathogenic 3 7 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 42.0 0.7142857142857143 Pathogenic 0 -37426 Simple 80356898 A . Pathogenic 3 12 Breast-ovarian cancer, familial 1;Ovarian cancer;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome;Breast carcinoma;Ovarian neoplasm 2016-04-22 67.2 1.5 Pathogenic 0 -37428 Simple 397507192 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -37431 Simple 397507193 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -37434 Simple 397507194 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -37435 Simple 80357526 - . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 59.4 0.9 Pathogenic 0 -37436 Simple 80357355 A . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.2 1.4285714285714286 Pathogenic 0 -37438 Simple 80357522 - . Pathogenic 3 12 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 63.93 1.0 Pathogenic 0 -37439 Simple 397507195 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37441 Simple 80357250 A . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.68 1.8333333333333333 Benign/Likely benign 1 -37444 Simple 80357688 - . Pathogenic 3 11 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 63.6 1.0 Pathogenic 0 -37445 Simple 80357880 AA . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.0 Pathogenic 0 -37446 Simple 80358042 T . Pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-10 28.200000000000003 1.4 Pathogenic 0 -37449 Simple 80358061 C . Pathogenic 2 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-12 52.2 2.1 Pathogenic 0 -37450 Simple 80358163 C . Pathogenic 2 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 55.2 1.6 Pathogenic 0 -37451 Simple 80357233 C . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.8 1.125 Pathogenic 0 -37452 Simple 80357147 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.8999999999999999 0.0 Uncertain significance 0 -37453 Simple 80356875 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -37454 Simple 4986845 C . Benign 3 11 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Prostate cancer 2015-08-10 -43.44 2.3636363636363638 Benign 0 -37455 Simple 397507196 G . Benign/Likely benign 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -11.7 1.0 Benign/Likely benign 0 -37456 Simple 80357654 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 27.6 2.0 Pathogenic 0 -37457 Simple 397507197 AAAA . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -37459 Simple 80357583 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 23.4 1.5 Pathogenic 0 -37461 Simple 80357194 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-21 -0.87 1.3333333333333333 Uncertain significance 0 -37462 Simple 80357786 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -37466 Simple 80357664 - . Pathogenic 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 55.2 1.3 Pathogenic 0 -37467 Simple 397507200 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37468 Simple 397507201 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-09-11 -0.78 2.3333333333333335 Uncertain significance 0 -37469 Simple 80357524 - . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.375 Pathogenic 0 -37471 Simple 80357669 - . Pathogenic 3 12 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 67.2 1.5 Pathogenic 0 -37472 Simple 80357970 - . Pathogenic 3 11 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 62.4 1.4545454545454546 Pathogenic 0 -37473 Simple 28897683 T . Benign 3 13 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -47.88 2.076923076923077 Benign 0 -37474 Simple 80357607 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -37475 Simple 80357131 A . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 34.2 1.6666666666666667 Pathogenic 0 -37476 Simple 80356927 C . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.44 1.1666666666666667 Benign/Likely benign 1 -37477 Simple 80356925 C . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 1.1666666666666667 Pathogenic 0 -37478 Simple 80357251 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 26.7 1.4 Pathogenic 0 -37479 Simple 80356874 A . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -21.21 1.2857142857142858 Benign/Likely benign 1 -37480 Simple 80357170 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -37481 Simple 80357596 - . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 48.6 1.3333333333333333 Pathogenic 0 -37482 Simple 397507202 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-07-28 -0.5700000000000001 1.5 Uncertain significance 0 -37483 Simple 80357717 ATAT . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 38.1 1.2857142857142858 Pathogenic 0 -37484 Simple 80357035 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -37486 Simple 80357127 A . Uncertain significance 2 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-23 -2.28 1.0 Uncertain significance 0 -37489 Simple 4986847 G . Benign 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -37.44 1.25 Benign 0 -37490 Simple 80356941 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -1.17 1.0 Uncertain significance 0 -37491 Simple 80357832 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.4285714285714286 Pathogenic 0 -37493 Simple 80357115 C . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 49.2 1.8888888888888888 Pathogenic 0 -37495 Simple 397507207 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.5 Pathogenic 0 -37501 Simple 80358051 C . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 0 -37502 Simple 397507208 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -37507 Simple 80357459 T . Benign 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -28.71 2.125 Benign 0 -37509 Simple 80357161 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -37510 Simple 80357271 C . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.14 1.5 Benign/Likely benign 1 -37512 Simple 397507210 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37513 Simple 397507211 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-05-08 -0.48 3.0 Uncertain significance 0 -37516 Simple 80357635 - . Pathogenic 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 55.8 1.1 Pathogenic 0 -37517 Simple 397507213 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -37521 Simple 397507214 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37522 Simple 41293449 G . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -27.990000000000002 2.2857142857142856 Benign 0 -37523 Simple 80357701 - . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 56.4 1.4 Pathogenic 0 -37524 Simple 397507215 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.5 Pathogenic 0 -37525 Simple 80357334 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-05-20 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -37526 Simple 80357945 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -37528 Simple 80357405 C . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 23.4 1.25 Pathogenic 0 -37529 Simple 80357018 A . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 47.4 0.875 Pathogenic 0 -37530 Simple 80357808 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -37531 Simple 80357509 - . Pathogenic 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.8 1.125 Pathogenic 0 -37532 Simple 397507216 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -37533 Simple 80357980 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -37534 Simple 80357729 TT . Pathogenic 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 51.0 1.4444444444444444 Pathogenic 0 -37535 Simple 80357902 TT . Pathogenic 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 58.2 1.0 Pathogenic 0 -37539 Simple 397507217 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -37540 Simple 80357162 C . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -37542 Simple 80357609 - . Pathogenic 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 73.8 1.3076923076923077 Pathogenic 0 -37543 Simple 28897688 A . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -29.64 1.8571428571428572 Benign 0 -37544 Simple 80357520 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.5 Pathogenic 0 -37545 Simple 80357848 TT . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -37546 Simple 80357579 - . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 58.2 1.2 Pathogenic 0 -37547 Simple 397507218 G . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.2 Pathogenic 0 -37548 Simple 397507219 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-02-12 -0.51 2.5 Uncertain significance 0 -37550 Simple 397507220 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -37553 Simple 80357842 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 41.4 1.0 Pathogenic 0 -37554 Simple 80357254 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -37556 Simple 80357318 A . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 0.8333333333333334 Pathogenic 0 -37558 Simple 397507224 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37559 Simple 80357021 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -37560 Simple 80357711 - . Pathogenic 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 73.8 1.3076923076923077 Pathogenic 0 -37562 Simple 397507225 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.17 0.75 Uncertain significance 0 -37564 Simple 374192364 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-06-08 -0.72 3.0 Uncertain significance 0 -37565 Simple 80358178 T . Pathogenic/Likely pathogenic 2 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-09 29.400000000000002 1.4285714285714286 Pathogenic 1 -37567 Simple 80358070 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2015-08-10 . 2.0 . 0 -37568 Simple 80357804 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -37569 Simple 80357259 A . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.8 1.25 Pathogenic 0 -37570 Simple 80357787 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 0.75 Pathogenic 0 -37572 Simple 80357071 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -37574 Simple 273900724 T . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-29 24.6 1.4 Pathogenic 1 -37578 Simple 80357981 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.2 Pathogenic 0 -37579 Simple 80357977 - . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -37580 Simple 80356991 T . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -14.34 1.4 Benign/Likely benign 1 -37581 Simple 80356991 A . Pathogenic 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 56.4 1.4 Pathogenic 0 -37582 Simple 397507228 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.87 1.0 Uncertain significance 0 -37583 Simple 80356827 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -37584 Simple 80358027 T . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 56.94 1.3 Pathogenic 0 -37586 Simple 397507229 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -37588 Simple 273900730 AA . Pathogenic 3 7 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.2 2.2857142857142856 Pathogenic 0 -37589 Simple 80357916 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37590 Simple 397507230 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37592 Simple 397507231 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -37593 Simple 397507232 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -37594 Simple 397507233 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-10-19 -1.1400000000000001 1.25 Uncertain significance 0 -37595 Simple 80357854 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -37596 Simple 80358063 T . Pathogenic 2 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-18 40.2 0.7142857142857143 Pathogenic 0 -37598 Simple 80357389 A . Pathogenic 2 11 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-01 62.4 1.2727272727272727 Pathogenic 0 -37602 Simple 397507236 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -37604 Simple 80356988 T . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-16 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -37605 Simple 80356988 G . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-10-02 7.800000000000001 2.5 Likely pathogenic 1 -37607 Simple 80357433 C . Pathogenic 3 14 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 81.6 1.1428571428571428 Pathogenic 0 -37608 Simple 80357887 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 35.4 1.1666666666666667 Pathogenic 0 -37609 Simple 80357641 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -37611 Simple 80359888 - . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -1.44 1.0 Uncertain significance 0 -37615 Simple 80356968 G . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.14 1.5 Benign/Likely benign 1 -37616 Simple 80359876 . . Pathogenic 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 57.0 1.3 Pathogenic 0 -37618 Simple 80358162 A . Pathogenic 2 2 Breast-ovarian cancer, familial 1 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -37619 Simple 80358087 G . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-17 20.4 0.8 Pathogenic 1 -37620 Simple 80358086 G . Pathogenic/Likely pathogenic 2 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-31 39.3 1.25 Pathogenic 1 -37621 Simple 80357314 G . Benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -17.34 1.25 Benign/Likely benign 1 -37623 Simple 80357580 - . Pathogenic 3 11 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 61.8 1.5454545454545454 Pathogenic 0 -37624 Simple 80357623 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 34.8 1.1666666666666667 Pathogenic 0 -37626 Simple 397507239 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37629 Simple 80358053 T . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 43.74 1.875 Pathogenic 0 -37630 Simple 80358053 A . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-08-02 11.4 1.5 Pathogenic/Likely pathogenic 0 -37631 Simple 80358089 G . Pathogenic/Likely pathogenic 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-17 23.7 1.8333333333333333 Pathogenic 1 -37632 Simple 80187739 T . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-08-29 11.100000000000001 1.6666666666666667 Pathogenic/Likely pathogenic 0 -37633 Simple 80187739 G . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-12-05 21.6 1.8 Pathogenic 1 -37634 Simple 397507240 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2016-12-02 -0.84 1.6666666666666667 Uncertain significance 0 -37635 Simple 397507241 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-26 -0.78 2.3333333333333335 Uncertain significance 0 -37638 Simple 80356860 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 23.04 1.4 Pathogenic 0 -37639 Simple 397507243 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-31 -0.5700000000000001 1.5 Uncertain significance 0 -37640 Simple 28897696 A . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer 2017-08-02 -1.77 0.6666666666666666 Uncertain significance 0 -37642 Simple 80358094 G . Pathogenic 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-07-09 22.200000000000003 1.75 Pathogenic 0 -37643 Simple 80358137 G . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-08-10 22.14 2.0 Pathogenic 0 -37644 Simple 80357867 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 41.4 1.0 Pathogenic 0 -37645 Simple 80357347 A . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 42.0 0.8571428571428571 Pathogenic 0 -37647 Simple 80358069 C . Pathogenic/Likely pathogenic 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-10 26.400000000000002 1.5 Pathogenic 1 -37650 Simple 397507245 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-07 -0.87 1.3333333333333333 Uncertain significance 0 -37651 Simple 80357925 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37654 Simple 80358150 T . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 54.54 1.7 Pathogenic 0 -37655 Simple 80357886 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37656 Simple 80357463 C . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-08-10 25.740000000000002 1.6 Pathogenic 0 -37657 Simple 80357590 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 38.4 1.7142857142857142 Pathogenic 0 -37658 Simple 80357284 T . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 47.4 1.125 Pathogenic 0 -37660 Simple 80357069 A . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 34.74 1.1666666666666667 Pathogenic 0 -37661 Simple 56187033 C . Benign 3 13 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -47.61 2.1538461538461537 Benign 0 -37662 Simple 397507249 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37663 Simple 80357055 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -37669 Simple 80357558 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -37671 Simple 397507250 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -37673 Simple 80358145 T . Pathogenic/Likely pathogenic 2 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-30 36.6 1.4285714285714286 Pathogenic 1 -37674 Simple 80358047 T . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-03 32.4 1.3333333333333333 Pathogenic 0 -37675 Simple 80358014 A . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -35.94 1.5714285714285714 Benign 0 -37677 Simple 397507252 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-05-05 -0.6 0.5 Uncertain significance 0 -37684 Simple 80357090 T . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -33.54 2.4285714285714284 Benign 0 -37686 Simple 80358033 G . Benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -5.999999999999999 0.7777777777777778 Likely benign 2 -37689 Simple 55680408 C . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -10.41 1.0 Benign/Likely benign 1 -37691 Simple 80357783 TT . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 56.4 1.5 Pathogenic 0 -37693 Simple 80357941 - . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.125 Pathogenic 0 -37695 Simple 80357747 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 39.6 1.5714285714285714 Pathogenic 0 -37697 Simple 80357321 C . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.5 Pathogenic 0 -37698 Simple 80357724 - . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 48.6 1.4444444444444444 Pathogenic 0 -37699 Simple 273902788 - . Benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-08-10 -17.94 1.0 Benign/Likely benign 1 -37701 Simple 56328013 C . Benign 3 7 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -28.98 1.5714285714285714 Benign 0 -37707 Simple 80357443 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37708 Simple 80357844 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -37710 Simple 80359872 . . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -37712 Simple 80357292 T . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.8 1.125 Pathogenic 0 -37719 Simple 80358387 G . Benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -25.44 1.5 Benign 0 -37721 Simple 397507261 T . Benign/Likely benign 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -16.2 1.8 Benign/Likely benign 0 -37724 Simple 80359260 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.0 Pathogenic 0 -37725 Simple 80359261 TT . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 44.4 0.875 Pathogenic 0 -37726 Simple 397507262 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37729 Simple 397507264 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-16 -0.5700000000000001 1.5 Uncertain significance 0 -37730 Simple 397507265 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -37731 Simple 80359271 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 24.0 1.0 Pathogenic 0 -37732 Simple 397507266 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37733 Simple 80359272 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.1666666666666667 Pathogenic 0 -37734 Simple 4987046 G . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -80.94 2.1176470588235294 Benign 0 -37735 Simple 80359273 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 41.4 1.0 Pathogenic 0 -37736 Simple 80359276 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 43.5 1.25 Pathogenic 0 -37737 Simple 80359277 - . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 61.2 1.5454545454545454 Pathogenic 0 -37738 Simple 56403624 G . Benign 3 12 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -44.88 2.1666666666666665 Benign 0 -37739 Simple 80358431 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-03 -1.47 1.2 Uncertain significance 0 -37747 Simple 397507271 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-22 -0.5700000000000001 1.5 Uncertain significance 0 -37748 Simple 397507272 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -37749 Simple 276174810 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -0.87 1.0 Uncertain significance 0 -37751 Simple 80358454 C . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -19.740000000000002 1.4 Benign/Likely benign 1 -37752 Simple 397507274 A . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.17 0.5 Uncertain significance 0 -37753 Simple 80358457 C . Benign 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -37.14 1.1111111111111112 Benign 0 -37754 Simple 80359302 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.125 Pathogenic 0 -37756 Simple 276174813 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 52.8 1.1111111111111112 Pathogenic 0 -37759 Simple 80358464 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -37762 Simple 80359306 AA . Pathogenic 3 13 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 72.0 1.6153846153846154 Pathogenic 0 -37763 Simple 80359307 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 46.2 1.125 Pathogenic 0 -37764 Simple 80358474 A . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.125 Pathogenic 0 -37765 Simple 397507278 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37766 Simple 397507278 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -37768 Simple 80358479 T . Benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -32.04 1.875 Benign 0 -37769 Simple 80359316 - . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 61.8 1.5454545454545454 Pathogenic 0 -37770 Simple 28897712 G . Benign 3 14 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -58.14 2.0714285714285716 Benign 0 -37771 Simple 397507279 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -37773 Simple 80359318 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -37774 Simple 80359322 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 0.8333333333333334 Pathogenic 0 -37776 Simple 276174819 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Neoplasm of the breast 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37777 Simple 397507282 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -37778 Simple 397507283 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.41 1.2 Uncertain significance 0 -37779 Simple 80358499 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -0.54 1.5 Uncertain significance 0 -37784 Simple 80358504 G . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.2857142857142858 Pathogenic 0 -37786 Simple 397507285 G . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -37787 Simple 397507286 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.6 0.75 Pathogenic 0 -37788 Simple 397507287 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-02 -0.81 2.0 Uncertain significance 0 -37793 Simple 80359335 AA . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 44.4 1.625 Pathogenic 0 -37795 Simple 397507290 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -37796 Simple 397507291 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -37799 Simple 80358529 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -37800 Simple 397507293 A . Uncertain significance 1 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-14 . 1.0 . 0 -37804 Simple 80358532 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -37806 Simple 397507295 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -1.47 0.8 Uncertain significance 0 -37807 Simple 397507296 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.47 1.0 Uncertain significance 0 -37809 Simple 397507298 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -37811 Simple 80359365 G . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 48.0 0.875 Pathogenic 0 -37812 Simple 80358544 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.8 Pathogenic 0 -37814 Simple 397507300 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 31.2 1.6666666666666667 Pathogenic 0 -37817 Simple 55638633 G . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -30.240000000000002 1.5714285714285714 Benign 0 -37818 Simple 80358550 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -37819 Simple 80358557 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.1666666666666667 Pathogenic 0 -37820 Simple 41293477 G . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 40.8 1.2857142857142858 Pathogenic 0 -37824 Simple 80359371 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 24.0 1.25 Pathogenic 0 -37826 Simple 80359373 - . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 63.0 1.0909090909090908 Pathogenic 0 -37827 Simple 397507304 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -37830 Simple 80359380 TT . Pathogenic 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 49.2 1.2222222222222223 Pathogenic 0 -37833 Simple 28897719 T . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -28.740000000000002 0.8571428571428571 Benign 0 -37834 Simple 397507305 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -37836 Simple 369294255 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -37840 Simple 80358588 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -37841 Simple 200808363 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-02 -0.87 1.0 Uncertain significance 0 -37846 Simple 80359388 - . Pathogenic 3 12 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome;Inborn genetic diseases 2016-04-22 64.5 1.6666666666666667 Pathogenic 0 -37848 Simple 397507310 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -0.87 1.0 Uncertain significance 0 -37852 Simple 28897722 G . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -25.11 1.7142857142857142 Benign 0 -37853 Simple 80359398 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 29.4 1.4 Pathogenic 0 -37855 Simple 80359401 - . Pathogenic 3 7 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.2 1.5714285714285714 Pathogenic 0 -37856 Simple 80359403 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 40.2 1.2857142857142858 Pathogenic 0 -37857 Simple 397507315 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.81 1.6666666666666667 Uncertain significance 0 -37858 Simple 397507316 - . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-12 -0.6 1.0 Uncertain significance 0 -37859 Simple 80359405 - . Pathogenic 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 68.4 1.4166666666666667 Pathogenic 0 -37860 Simple 397507317 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -37862 Simple 80359412 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 51.6 1.3333333333333333 Pathogenic 0 -37863 Simple 41293485 A . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-01-12 -75.18 1.9411764705882353 Benign 0 -37866 Simple 80358636 A . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -17.01 1.8 Benign/Likely benign 1 -37867 Simple 80358638 T . Pathogenic 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 63.6 1.2727272727272727 Pathogenic 0 -37868 Simple 397507319 - . Uncertain significance 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.74 1.0 Uncertain significance 0 -37869 Simple 397507320 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided 2016-04-22 24.0 1.0 Pathogenic 0 -37872 Simple 80359418 - . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-03-16 11.4 1.0 Pathogenic/Likely pathogenic 1 -37873 Simple 397507321 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -37875 Simple 397507322 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 27.0 1.0 Pathogenic 0 -37876 Simple 80359425 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.8 1.25 Pathogenic 0 -37877 Simple 80359426 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -37878 Simple 80358657 A . Benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -19.740000000000002 1.25 Benign/Likely benign 1 -37880 Simple 397507323 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 39.0 0.8571428571428571 Pathogenic 0 -37882 Simple 397507324 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.6 0.5 Uncertain significance 0 -37884 Simple 397507325 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37885 Simple 276174843 A . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 41.4 1.0 Pathogenic 0 -37886 Simple 55969723 G . Benign 3 12 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -46.14 1.6666666666666667 Benign 0 -37887 Simple 28897726 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.47 0.8 Uncertain significance 0 -37889 Simple 80358663 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 0.8333333333333334 Pathogenic 0 -37890 Simple 397507327 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -37891 Simple 80359438 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -37892 Simple 80359439 TT . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 54.6 1.3 Pathogenic 0 -37893 Simple 80358667 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -37894 Simple 397507328 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37897 Simple 397507330 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-03 -0.8999999999999999 1.0 Uncertain significance 0 -37898 Simple 117187202 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-21 -1.44 1.0 Uncertain significance 0 -37899 Simple 397507331 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.8571428571428572 Pathogenic 0 -37900 Simple 80358674 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -37901 Simple 397507332 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -37902 Simple 397507333 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 34.8 1.3333333333333333 Pathogenic 0 -37904 Simple 80359448 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 41.4 1.0 Pathogenic 0 -37905 Simple 397507334 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.3333333333333333 Pathogenic 0 -37906 Simple 80359452 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.6 Pathogenic 0 -37909 Simple 397507336 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -0.87 1.0 Uncertain significance 0 -37910 Simple 28897728 A . Benign 3 15 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer 2015-08-10 -52.74 1.6 Benign 0 -37912 Simple 80359460 AA . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.1666666666666667 Pathogenic 0 -37913 Simple 80359461 - . Pathogenic 3 12 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 64.8 1.3333333333333333 Pathogenic 0 -37915 Simple 80359462 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 54.0 0.6666666666666666 Pathogenic 0 -37916 Simple 377639990 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -1.2 0.5 Uncertain significance 0 -37919 Simple 80359464 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 40.8 1.4285714285714286 Pathogenic 0 -37920 Simple 368952892 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-12-16 -0.8999999999999999 1.0 Uncertain significance 0 -37923 Simple 81002853 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 23.34 1.0 Pathogenic 0 -37926 Simple 200582465 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.41 1.2 Uncertain significance 0 -37929 Simple 80359470 - . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 64.8 1.0909090909090908 Pathogenic 0 -37933 Simple 397507344 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -37935 Simple 80359473 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 58.2 1.2 Pathogenic 0 -37936 Simple 80358721 G . Pathogenic 3 16 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 89.4 1.4375 Pathogenic 0 -37938 Simple 397507346 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -37939 Simple 80359477 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 32.4 1.3333333333333333 Pathogenic 0 -37940 Simple 80359478 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.0 Pathogenic 0 -37942 Simple 56087561 C . Benign 3 14 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -46.71 1.7142857142857142 Benign 0 -37943 Simple 80359480 AA . Pathogenic 3 14 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 76.8 1.3571428571428572 Pathogenic 0 -37944 Simple 200265692 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 18.0 1.0 Pathogenic 0 -37949 Simple 80359492 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 47.4 1.0 Pathogenic 0 -37950 Simple 55639415 T . Benign 3 13 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -43.08 1.9230769230769231 Benign 0 -37951 Simple 80359493 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.8 1.25 Pathogenic 0 -37954 Simple 80359499 TT . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 63.6 1.1818181818181819 Pathogenic 0 -37955 Simple 80359501 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -37956 Simple 80359503 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 48.0 0.5 Pathogenic 0 -37957 Simple 80359505 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 0.6666666666666666 Pathogenic 0 -37958 Simple 80358755 A . Benign 3 14 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -59.94 1.7857142857142858 Benign 0 -37959 Simple 80359507 - . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 61.8 1.4545454545454546 Pathogenic 0 -37960 Simple 80359508 AA . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 58.8 1.0 Pathogenic 0 -37961 Simple 80359509 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -37963 Simple 80359512 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 41.4 1.1428571428571428 Pathogenic 0 -37965 Simple 397507351 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -37967 Simple 80359515 AA . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 39.0 1.5714285714285714 Pathogenic 0 -37969 Simple 138489917 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.6 0.0 Uncertain significance 0 -37970 Simple 397507353 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -37973 Simple 80358777 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -1.2 0.5 Uncertain significance 0 -37974 Simple 397507354 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.1099999999999999 1.5 Uncertain significance 0 -37975 Simple 80359520 - . Pathogenic 3 15 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 85.2 1.3333333333333333 Pathogenic 0 -37976 Simple 397507355 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -37977 Simple 80359524 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -37978 Simple 397507356 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -37979 Simple 80358783 T . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.2857142857142858 Pathogenic 0 -37980 Simple 80359526 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.375 Pathogenic 0 -37981 Simple 397507357 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 26.7 1.0 Pathogenic 0 -37984 Simple 80358785 A . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 52.8 0.8888888888888888 Pathogenic 0 -37985 Simple 80358789 A . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.1666666666666667 Pathogenic 0 -37986 Simple 397507359 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -0.84 1.3333333333333333 Uncertain significance 0 -37987 Simple 397507360 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.14 1.25 Uncertain significance 0 -37988 Simple 80359527 AA . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 47.4 0.875 Pathogenic 0 -37989 Simple 41293497 G . Pathogenic 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Medulloblastoma;Wilms tumor 1;Breast-ovarian cancer, familial 1;Malignant tumor of prostate;Tracheoesophageal fistula;Pancreatic cancer 2;Glioma susceptibility 3;Ovarian cancer;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 84.6 1.3333333333333333 Pathogenic 0 -37990 Simple 55875643 G . Benign 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -36.75 1.6 Benign 0 -37993 Simple 80359533 - . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 61.8 1.4545454545454546 Pathogenic 0 -37996 Simple 56253082 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -37997 Simple 79538375 G . Benign 3 14 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -65.34 1.8571428571428572 Benign 0 -37998 Simple 80359538 - . Pathogenic 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 52.2 1.1111111111111112 Pathogenic 0 -37999 Simple 80359541 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.25 Pathogenic 0 -38000 Simple 80358810 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -38001 Simple 80359543 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 49.2 1.4444444444444444 Pathogenic 0 -38002 Simple 375064902 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 20.4 1.5 Pathogenic 0 -38007 Simple 80358824 A . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 51.0 1.4444444444444444 Pathogenic 0 -38009 Simple 28897737 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -1.47 0.8 Uncertain significance 0 -38010 Simple 28897738 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.47 0.8 Uncertain significance 0 -38011 Simple 80358831 T . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -38013 Simple 397507362 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -38015 Simple 80359554 GG . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 52.8 1.1111111111111112 Pathogenic 0 -38016 Simple 80358840 T . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 55.2 1.3 Pathogenic 0 -38019 Simple 80358852 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -38022 Simple 80358853 T . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -19.740000000000002 1.2 Benign/Likely benign 1 -38024 Simple 397507365 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-01 -1.14 1.25 Uncertain significance 0 -38025 Simple 143806921 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-08-19 -0.6 1.0 Uncertain significance 0 -38026 Simple 80358859 G . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.2 Pathogenic 0 -38027 Simple 80358862 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.0 Uncertain significance 0 -38028 Simple 34309943 A . Benign 3 12 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -56.94 2.25 Benign 0 -38029 Simple 276174868 C . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 1.0 Pathogenic 0 -38033 Simple 397507367 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.77 0.3333333333333333 Uncertain significance 0 -38035 Simple 80358871 C . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 13.8 1.3333333333333333 Pathogenic/Likely pathogenic 0 -38037 Simple 35029074 A . Benign 3 17 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -77.64 1.9411764705882353 Benign 0 -38038 Simple 397507369 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -38039 Simple 80358874 G . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -24.84 1.6666666666666667 Benign 0 -38041 Simple 80359577 AA . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 41.4 0.8571428571428571 Pathogenic 0 -38043 Simple 80359584 - . Pathogenic 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 62.4 1.4545454545454546 Pathogenic 0 -38044 Simple 397507371 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -38045 Simple 80358879 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-02-15 -0.6 1.0 Uncertain significance 0 -38046 Simple 80359590 TT . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.2 Pathogenic 0 -38047 Simple 80359596 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 50.4 0.7777777777777778 Pathogenic 0 -38048 Simple 80359598 - . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 63.6 1.0909090909090908 Pathogenic 0 -38050 Simple 80359601 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -38053 Simple 397507373 AA . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.0 Pathogenic 0 -38059 Simple 80359613 CC . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 29.4 1.4 Pathogenic 0 -38060 Simple 80359616 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 58.8 0.9 Pathogenic 0 -38061 Simple 373546450 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -1.2 0.75 Uncertain significance 0 -38062 Simple 397507375 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -38064 Simple 80358899 G . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -30.84 1.4285714285714286 Benign 0 -38065 Simple 397507376 TT . Benign/Likely benign 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-02 -14.4 1.3333333333333333 Benign/Likely benign 0 -38069 Simple 81002811 A . Benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.14 1.75 Benign/Likely benign 1 -38070 Simple 56272235 G . Benign 3 12 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -55.74 2.25 Benign 0 -38071 Simple 397507378 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -38072 Simple 80358913 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.6666666666666666 Pathogenic 0 -38074 Simple 80359628 - . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 15.0 1.3333333333333333 Pathogenic 0 -38075 Simple 80359629 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 38.4 1.1428571428571428 Pathogenic 0 -38076 Simple 80358920 T . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 42.0 0.5714285714285714 Pathogenic 0 -38078 Simple 397507380 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.5 0.4 Uncertain significance 0 -38079 Simple 80359630 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 45.6 1.5 Pathogenic 0 -38082 Simple 80359636 - . Pathogenic 3 13 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 72.6 1.6153846153846154 Pathogenic 0 -38085 Simple 276174889 G . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 34.8 1.3333333333333333 Pathogenic 0 -38086 Simple 55977008 A . Benign 3 15 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -59.04 2.0 Benign 0 -38089 Simple 397507385 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -38090 Simple 397507386 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -38091 Simple 80359648 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -38093 Simple 80359649 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -38094 Simple 80359650 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -38095 Simple 80359651 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-04-22 18.0 1.0 Pathogenic 0 -38098 Simple 80358970 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-09 -0.87 1.0 Uncertain significance 0 -38099 Simple 80358972 T . Pathogenic 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Medulloblastoma;Wilms tumor 1;Breast-ovarian cancer, familial 1;Malignant tumor of prostate;Tracheoesophageal fistula;Pancreatic cancer 2;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 74.4 1.3076923076923077 Pathogenic 0 -38101 Simple 80359657 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -38102 Simple 28897744 T . Benign 3 11 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -42.24 1.4545454545454546 Benign 0 -38103 Simple 80359659 - . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 63.0 1.2727272727272727 Pathogenic 0 -38105 Simple 80359664 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 1.1666666666666667 Pathogenic 0 -38106 Simple 80359662 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -38108 Simple 80358987 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.2 0.25 Uncertain significance 0 -38110 Simple 397507389 A . Pathogenic 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 52.74 1.0 Pathogenic 0 -38111 Simple 397507390 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -38112 Simple 80358992 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-24 -0.54 1.5 Uncertain significance 0 -38113 Simple 80359672 - . Pathogenic 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 50.4 1.4444444444444444 Pathogenic 0 -38116 Simple 80359004 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.6 Pathogenic 0 -38119 Simple 80359677 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 35.4 1.0 Pathogenic 0 -38121 Simple 397507393 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-17 -0.51 2.5 Uncertain significance 0 -38122 Simple 80359011 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 26.4 2.2 Pathogenic 0 -38124 Simple 80359013 A . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 0.8333333333333334 Pathogenic 0 -38125 Simple 80359013 C . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 49.44 1.0909090909090908 Pathogenic 0 -38126 Simple 80359686 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 52.8 0.8888888888888888 Pathogenic 0 -38128 Simple 397507395 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -38129 Simple 80359025 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -38132 Simple 81002874 C . Pathogenic 2 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-30 45.6 1.125 Pathogenic 0 -38138 Simple 80359052 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.1400000000000001 1.25 Uncertain significance 0 -38141 Simple 41293513 G . Pathogenic 3 6 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 34.14 1.5 Pathogenic 0 -38142 Simple 80359065 T . Benign 3 9 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -43.14 1.8888888888888888 Benign 0 -38143 Simple 397507396 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -38146 Simple 80359704 TT . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -38148 Simple 397507400 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -38149 Simple 80359705 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 58.2 1.1 Pathogenic 0 -38151 Simple 28897750 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -38153 Simple 80359706 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -38154 Simple 81002837 A . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2015-10-02 12.0 3.0 Pathogenic/Likely pathogenic 0 -38157 Simple 80359083 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -0.84 1.3333333333333333 Uncertain significance 0 -38159 Simple 397507402 C . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -38164 Simple 397507404 A . Pathogenic/Likely pathogenic 2 8 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-05 40.2 1.0 Pathogenic 1 -38166 Simple 80359712 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -38167 Simple 397507406 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.6 0.5 Pathogenic 0 -38169 Simple 80359718 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 51.6 1.1111111111111112 Pathogenic 0 -38170 Simple 80359720 TT . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 35.4 1.3333333333333333 Pathogenic 0 -38177 Simple 397507409 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 22.8 1.75 Pathogenic 0 -38178 Simple 397507410 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.1666666666666667 Pathogenic 0 -38179 Simple 397507411 T . Pathogenic 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 27.0 1.0 Pathogenic 0 -38183 Simple 81002812 A . Uncertain significance 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-15 27.87 1.4285714285714286 Pathogenic 3 -38188 Simple 142040996 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-06-19 -0.54 2.0 Uncertain significance 0 -38190 Simple 276174913 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-09-08 16.8 2.0 Pathogenic 0 -38192 Simple 80359730 - . Pathogenic 3 13 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 76.2 1.0 Pathogenic 0 -38193 Simple 45469092 T . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -33.54 1.5714285714285714 Benign 0 -38195 Simple 80359732 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -38196 Simple 80359733 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -38197 Simple 80359146 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -38198 Simple 81002882 T . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 41.34 1.0 Pathogenic 0 -38202 Simple 397507416 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-27 -0.84 1.3333333333333333 Uncertain significance 0 -38203 Simple 397507417 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -1.41 1.2 Uncertain significance 0 -38204 Simple 80359741 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 59.4 1.0 Pathogenic 0 -38207 Simple 80359159 T . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.2 1.4285714285714286 Pathogenic 0 -38208 Simple 397507419 AA . Pathogenic 3 13 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 72.6 1.6153846153846154 Pathogenic 0 -38209 Simple 397507420 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -38210 Simple 80359164 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -1.35 1.6 Uncertain significance 0 -38213 Simple 80359167 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -38215 Simple 28897756 A . Pathogenic 2 11 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Medulloblastoma;Wilms tumor 1;Breast-ovarian cancer, familial 1;Malignant tumor of prostate;Tracheoesophageal fistula;Pancreatic cancer 2;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-24 61.2 1.4545454545454546 Pathogenic 0 -38218 Simple 201561974 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-05-10 -0.54 2.0 Uncertain significance 0 -38220 Simple 55933907 A . Benign 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -36.24 1.6 Benign 0 -38221 Simple 397507422 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 53.7 1.4 Pathogenic 0 -38223 Simple 80359190 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.14 1.25 Uncertain significance 0 -38225 Simple 80359752 AA . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 60.0 1.2727272727272727 Pathogenic 0 -38226 Simple 397507424 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -38227 Simple 41293521 C . Benign 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -35.01 2.0 Benign 0 -38228 Simple 80359200 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -38229 Simple 80359200 G . Pathogenic 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 57.6 1.2 Pathogenic 0 -38230 Simple 28897758 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -1.2 0.25 Uncertain significance 0 -38232 Simple 56204128 C . Uncertain significance 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-09 -1.65 1.3333333333333333 Uncertain significance 0 -38235 Simple 80359211 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.6 Pathogenic 0 -38236 Simple 397507427 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2014-06-04 -0.42 4.0 Uncertain significance 0 -38238 Simple 397507428 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.87 0.6666666666666666 Uncertain significance 0 -38239 Simple 80359759 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -38240 Simple 80359763 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 52.8 0.8888888888888888 Pathogenic 0 -38244 Simple 81002803 C . Benign/Likely benign 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-03-29 -6.0 0.0 Likely benign 1 -38246 Simple 397507430 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -38249 Simple 80359771 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.2 Pathogenic 0 -38252 Simple 80359229 C . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -27.84 1.4285714285714286 Benign 0 -38253 Simple 80359230 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 9.6 0.5 Pathogenic/Likely pathogenic 1 -38255 Simple 80359233 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-01-25 -0.54 2.0 Uncertain significance 0 -38260 Simple 80359775 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.125 Pathogenic 0 -38261 Simple 397507435 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-27 -1.1099999999999999 1.5 Uncertain significance 0 -38263 Simple 11571831 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -1.17 0.5 Uncertain significance 0 -38264 Simple 397507436 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-26 -0.81 2.0 Uncertain significance 0 -38265 Simple 80359254 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-01-30 -0.87 1.3333333333333333 Uncertain significance 0 -38266 Simple 11571833 T . Benign 3 18 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-02-16 -90.24000000000001 1.7222222222222223 Benign 0 -38267 Simple 397507437 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -38284 Simple 77939446 T . Pathogenic/Likely pathogenic 2 2 Multiple endocrine neoplasia, type 2;MEN2A and Unclassified;not specified 2017-07-11 9.0 0.5 Pathogenic/Likely pathogenic 0 -38290 Simple 146015592 A . Pathogenic 2 3 Biotinidase deficiency;not provided 2016-05-25 15.0 2.6666666666666665 Pathogenic 0 -38339 Simple 202247791 ACGTGTTCACGTGTTC . Pathogenic 2 3 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy;not provided 2017-03-26 17.4 1.0 Pathogenic 0 -38355 Simple 267607258 A . Pathogenic 2 2 Navajo neurohepatopathy;not provided;MPV17-Related Disorders 2017-05-31 12.0 0.5 Pathogenic/Likely pathogenic 1 -38363 Simple 202003805 T . Pathogenic 2 2 Hereditary pancreatitis;not specified 2017-05-12 12.0 0.0 Pathogenic/Likely pathogenic 1 -38394 Simple 2266782 A . Benign 2 1 Trimethylaminuria;not specified 2016-06-14 . 1.0 . 0 -38395 Simple 2266780 G . Benign 2 1 Trimethylaminuria;not specified 2016-06-14 . 1.0 . 0 -38439 Simple 281864930 - . Pathogenic 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2017-01-03 38.400000000000006 1.8571428571428572 Pathogenic 0 -38458 Simple 281865120 A . Pathogenic/Likely pathogenic 2 2 Spastic ataxia Charlevoix-Saguenay type;not provided 2016-09-30 9.0 1.0 Pathogenic/Likely pathogenic 0 -38480 Simple 121908767 - . Pathogenic 2 4 Cystic fibrosis;Hereditary pancreatitis 2016-07-01 18.6 3.25 Pathogenic 0 -38493 Simple 121908746 - . Pathogenic 4 3 Cystic fibrosis 2004-03-03 15.75 5.333333333333333 Pathogenic 0 -38494 Simple 77188391 T . Pathogenic 4 5 Cystic fibrosis;Hereditary pancreatitis 2004-03-03 27.75 3.6 Pathogenic 0 -38497 Simple 80224560 A . Pathogenic 4 7 Cystic fibrosis;Hereditary pancreatitis;not specified;not provided 2004-03-03 37.35 3.2857142857142856 Pathogenic 0 -38570 Simple 35034250 T . Benign/Likely benign 2 3 Biotinidase deficiency;not specified 2017-04-18 -14.7 1.0 Benign/Likely benign 0 -38593 Simple 35145938 T . Benign/Likely benign 2 4 Biotinidase deficiency;not specified;not provided 2017-06-14 -18.6 2.0 Benign/Likely benign 0 -38601 Simple 76262710 A . Pathogenic 2 2 MEN2A and FMTC;not provided;Hereditary cancer-predisposing syndrome 2017-05-23 12.0 0.5 Pathogenic/Likely pathogenic 1 -38612 Simple 75030001 T . Pathogenic 2 3 Multiple endocrine neoplasia, type 2;MEN2A and FMTC;not provided;Hereditary cancer-predisposing syndrome 2017-07-21 18.0 0.0 Pathogenic 0 -38726 Simple 121908789 TT . Pathogenic 3 3 Cystic fibrosis 2017-03-17 18.0 1.0 Pathogenic 0 -38728 Simple 121908761 A . Pathogenic 3 3 Cystic fibrosis;not provided 2017-03-17 18.0 0.6666666666666666 Pathogenic 0 -38730 Simple 77284892 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -38733 Simple 121908757 C . Pathogenic, drug response 3 2 Cystic fibrosis;ivacaftor response - Efficacy 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -38735 Simple 121908779 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -38798 Simple 28934585 T . Benign/Likely benign 2 6 Very long chain acyl-CoA dehydrogenase deficiency;not specified;not provided 2017-08-04 -28.8 2.0 Benign 1 -38799 Simple 78756941 T . Pathogenic 4 8 Cystic fibrosis;Hereditary pancreatitis 2004-03-03 43.35 3.125 Pathogenic 0 -38833 Simple 79660178 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -38850 Simple 35516286 C . Benign/Likely benign 2 4 Cystic fibrosis;not specified 2017-08-14 -18.6 1.75 Benign/Likely benign 0 -38865 Simple 61749895 T . Benign/Likely benign 2 1 Propionic acidemia;not specified 2017-05-08 . 0.0 . 0 -38870 Simple 138149179 T . Pathogenic 2 2 Propionic acidemia 2013-07-03 7.2 5.0 Likely pathogenic 2 -38875 Simple 397507445 TAGAGCACAGGA . Pathogenic 2 3 Propionic acidemia;not provided 2017-07-03 16.8 1.0 Pathogenic 0 -38903 Simple 1800472 A . Benign 2 1 not specified 2015-07-24 . 2.0 . 0 -38906 Simple 71647809 G . Benign/Likely benign 2 1 Spondylocostal dysostosis 2;Jarcho-Levin syndrome;not specified 2016-06-14 . 1.0 . 0 -38967 Simple 2269529 C . Benign 2 4 MYH9 related disorders;not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -39015 Simple 601314 C . Benign 2 4 Autosomal recessive cutis laxa type IA;Cutis laxa, recessive;not specified 2016-09-29 -21.6 2.0 Benign/Likely benign 1 -39022 Simple 397507447 A . Pathogenic 2 2 I cell disease;GNPTAB-Related Disorders 2016-06-14 9.6 3.0 Pathogenic/Likely pathogenic 1 -39107 Simple 33963617 A . Benign 2 6 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita autosomal dominant;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-08-18 -33.6 1.3333333333333333 Benign 0 -39119 Simple 33954691 A . Benign 2 5 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita autosomal dominant;not specified;Dyskeratosis Congenita, Recessive 2016-08-08 -27.6 1.8 Benign 0 -39126 Simple 2736098 T . Benign 2 6 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita autosomal dominant;not specified;Dyskeratosis Congenita, Recessive 2016-08-08 -33.6 1.6666666666666667 Benign 0 -39372 Simple 2070075 T . Benign/Likely benign, other 2 4 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;Galactosemia;not provided 2017-05-08 -16.8 2.5 Benign/Likely benign 0 -39419 Simple 397514494 T . Pathogenic/Likely pathogenic 2 2 Distal spinal muscular atrophy, congenital nonprogressive;Charcot-Marie-Tooth disease type 2C;not provided;Neuromuscular Diseases 2016-12-02 8.7 1.5 Pathogenic/Likely pathogenic 0 -39444 Simple 45546039 T . Pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1E;Brugada syndrome;not provided;Congenital long QT syndrome 2017-03-22 16.2 1.6666666666666667 Pathogenic 0 -39516 Simple 36210737 A . Pathogenic 3 4 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 20.4 2.5 Pathogenic 0 -39537 Simple 398122905 - . Pathogenic/Likely pathogenic 2 2 Autosomal recessive congenital ichthyosis 1;not provided;Congenital ichthyosiform erythroderma 2017-01-09 9.0 1.0 Pathogenic/Likely pathogenic 0 -39546 Simple 199766569 C . Pathogenic 2 4 Autosomal recessive congenital ichthyosis 2;not provided;Congenital ichthyosiform erythroderma;Ichthyosis 2016-06-14 22.2 1.75 Pathogenic 0 -39555 Simple 199473693 . . Pathogenic 2 4 Ectopia lentis et pupillae;Ectopia lentis, isolated autosomal recessive;not provided 2017-08-01 22.8 1.25 Pathogenic 0 -39577 Simple 148234606 C . Pathogenic 2 2 Brown-Vialetto-Van Laere syndrome 2;not provided 2017-10-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -39581 Simple 398123009 T . Pathogenic/Likely pathogenic 2 7 Multiple congenital anomalies;Schuurs-hoeijmakers syndrome;not provided;Inborn genetic diseases 2017-08-07 40.2 1.0 Pathogenic 1 -39593 Simple 397515402 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2016-10-26 10.2 2.5 Pathogenic/Likely pathogenic 1 -39594 Simple 397515403 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 14;not provided 2017-10-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -39595 Simple 397515404 A . Pathogenic 2 3 Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-04-22 16.2 1.6666666666666667 Pathogenic 0 -39599 Simple 397515407 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-07-31 12.0 0.5 Pathogenic/Likely pathogenic 1 -39614 Simple 62645748 A . Pathogenic/Likely pathogenic 2 2 Retinitis pigmentosa 12;Leber congenital amaurosis 8;not provided;Retinal dystrophy 2017-03-16 12.0 0.5 Pathogenic/Likely pathogenic 0 -39670 Simple 398123323 AA . Pathogenic 2 2 Macrocephaly/autism syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-12-01 12.0 1.0 Pathogenic/Likely pathogenic 1 -39679 Simple 375168720 C . Pathogenic 2 2 Obesity;Spastic paraplegia 54, autosomal recessive;Generalized epilepsy;Global developmental delay 2016-11-28 12.0 1.0 Pathogenic/Likely pathogenic 1 -39703 Simple 587776932 A . Pathogenic/Likely pathogenic 2 2 Megalencephaly cutis marmorata telangiectatica congenita;not provided 2016-06-17 8.1 2.5 Likely pathogenic 1 -39710 Simple 397515415 A . Pathogenic 2 3 Cornelia de Lange syndrome 5;not provided 2017-03-09 16.8 1.3333333333333333 Pathogenic 0 -39749 Simple 397514577 A . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Ataxia-telangiectasia variant;Hereditary cancer-predisposing syndrome 2017-08-01 9.0 0.5 Pathogenic/Likely pathogenic 0 -39758 Simple 267607277 G . Pathogenic/Likely pathogenic 2 2 Catecholaminergic polymorphic ventricular tachycardia type 1;Ventricular tachycardia, catecholaminergic polymorphic, 4;Long QT syndrome 14 2016-09-20 9.0 1.0 Pathogenic/Likely pathogenic 0 -39760 Simple 397514581 T . Pathogenic/Likely pathogenic 2 2 Early infantile epileptic encephalopathy 7;not provided 2016-12-06 8.1 2.5 Likely pathogenic 1 -39776 Simple 398122828 T . Pathogenic 2 2 Marshall syndrome;not provided 2017-12-19 11.4 1.0 Pathogenic/Likely pathogenic 1 -39787 Simple 376103091 A . Pathogenic/Likely pathogenic 2 2 Combined oxidative phosphorylation deficiency 12;not provided 2017-05-22 9.0 0.5 Pathogenic/Likely pathogenic 0 -39789 Simple 201842633 T . Pathogenic/Likely pathogenic 2 2 Combined oxidative phosphorylation deficiency 12;not provided 2017-12-09 9.0 0.5 Pathogenic/Likely pathogenic 0 -39808 Simple 587776934 A . Pathogenic/Likely pathogenic 2 2 Megalencephaly cutis marmorata telangiectatica congenita;Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1;not provided;Inborn genetic diseases 2017-05-12 10.2 2.0 Pathogenic/Likely pathogenic 0 -39822 Simple 200799769 T . Pathogenic 2 2 Joubert syndrome 20;not provided;Meckel syndrome, type 11 2017-05-20 11.4 1.0 Pathogenic/Likely pathogenic 1 -39827 Simple 201431517 A . Pathogenic/Likely pathogenic 2 5 Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency;Short stature;Combined oxidative phosphorylation deficiency 15;not provided;Abnormal facial shape;Poor speech;Decreased activity of cytochrome C oxidase in muscle tissue;Inability to walk by childhood/adolescence;Decreased activity of mitochondrial complex I 2017-05-31 24.6 1.4 Pathogenic 1 -39837 Simple 397515426 A . Pathogenic 2 2 Pontocerebellar hypoplasia type 8;not provided 2017-05-23 10.8 1.5 Pathogenic/Likely pathogenic 1 -40044 Simple 397514632 A . Pathogenic/Likely pathogenic, risk factor 2 2 Colorectal cancer 10 2017-07-11 9.0 0.5 Pathogenic/Likely pathogenic 0 -40046 Simple 483352909 C . Pathogenic, risk factor 2 3 not provided;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-17 18.0 0.6666666666666666 Pathogenic 0 -40093 Simple 397514641 T . Pathogenic/Likely pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-09-07 18.0 0.0 Pathogenic 1 -40166 Simple 121908529 A . Pathogenic/Likely pathogenic 2 4 Primary hyperoxaluria, type I;not provided 2017-08-22 20.4 1.0 Pathogenic 1 -40190 Simple 121909005 G . Pathogenic, drug response 3 3 Cystic fibrosis;not provided;ivacaftor response - Efficacy 2017-06-08 18.0 0.6666666666666666 Pathogenic 0 -40250 Simple 199473679 - . Pathogenic/Likely pathogenic 2 2 Cerebroretinal microangiopathy with calcifications and cysts 1;Dyskeratosis congenita;Cerebroretinal microangiopathy with calcifications and cysts 2017-06-05 8.7 1.0 Pathogenic/Likely pathogenic 0 -40333 Simple 397507454 T . Benign 3 4 Noonan syndrome with multiple lentigines;Noonan syndrome;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-18 -15.6 0.75 Benign/Likely benign 1 -40335 Simple 397507456 T . Benign 3 3 not specified;Rasopathy 2017-04-03 -12.84 1.3333333333333333 Benign/Likely benign 1 -40337 Simple 371877084 A . Benign/Likely benign 2 9 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-07-25 -35.1 1.7777777777777777 Benign 1 -40346 Simple 397507465 G . Pathogenic 3 3 not provided;Cardio-facio-cutaneous syndrome 2017-04-03 15.6 2.3333333333333335 Pathogenic 0 -40347 Simple 397507466 G . Pathogenic/Likely pathogenic 2 4 Cardiofaciocutaneous syndrome 1;Lung cancer;Noonan syndrome 1;LEOPARD syndrome 3;Noonan syndrome 7;not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-05-18 12.9 2.5 Pathogenic/Likely pathogenic 0 -40348 Simple 397507466 A . Pathogenic/Likely pathogenic 2 2 Noonan syndrome with multiple lentigines;not provided;Cardio-facio-cutaneous syndrome 2012-08-22 5.4 5.0 Likely pathogenic 1 -40351 Simple 397507469 T . Pathogenic/Likely pathogenic 2 2 not provided;Rasopathy 2015-01-02 6.6 3.5 Likely pathogenic 1 -40360 Simple 145035762 C . Benign 3 8 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-03 -36.0 1.5 Benign 0 -40361 Simple 6959000 C . Benign 2 1 not specified 2015-01-15 . 5.0 . 0 -40362 Simple 56101602 T . Benign 3 7 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-18 -29.4 1.7142857142857142 Benign 0 -40363 Simple 56216404 C . Benign 3 7 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-18 -28.8 1.8571428571428572 Benign 0 -40364 Simple 121913348 A . Pathogenic/Likely pathogenic 2 1 Non-small cell lung cancer;Rasopathy;Neoplasm of the breast;Neoplasm 2016-05-13 . 2.0 . 0 -40366 Simple 397507473 G . Pathogenic 2 2 not provided;Cardio-facio-cutaneous syndrome 2016-12-07 9.0 4.5 Pathogenic/Likely pathogenic 1 -40370 Simple 397507475 G . Pathogenic/Likely pathogenic 2 2 not provided;Cardio-facio-cutaneous syndrome 2014-10-06 5.4 4.5 Likely pathogenic 1 -40371 Simple 397507476 G . Pathogenic/Likely pathogenic 2 2 not provided 2015-07-23 6.300000000000001 3.5 Likely pathogenic 1 -40374 Simple 180177039 A . Pathogenic/Likely pathogenic 2 2 not provided;Cardio-facio-cutaneous syndrome 2014-09-24 6.6 3.5 Likely pathogenic 1 -40380 Simple 397507479 T . Likely pathogenic 3 5 not specified;not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-03 10.53 1.2 Pathogenic/Likely pathogenic 1 -40383 Simple 397507480 C . Likely pathogenic 2 2 not provided;Cardio-facio-cutaneous syndrome 2015-07-22 4.5 3.5 Likely pathogenic 0 -40387 Simple 397507483 A . Pathogenic 3 4 Multiple myeloma;Adenocarcinoma of lung;not provided;Rasopathy;Glioblastoma;Transitional cell carcinoma of the bladder;Cardio-facio-cutaneous syndrome 2017-04-03 19.8 2.75 Pathogenic 0 -40391 Simple 9648696 C . Benign 3 7 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-18 -36.0 3.0 Benign 0 -40393 Simple 3789806 G . Benign 2 2 not specified;not provided;Rasopathy 2016-04-25 -11.4 1.5 Benign/Likely benign 1 -40399 Simple 56046546 C . Benign 3 7 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-18 -32.4 1.1428571428571428 Benign 0 -40400 Simple 397507488 ACCACC . Benign/Likely benign 2 7 not specified;not provided;Rasopathy;Noonan-Like Syndrome Disorder 2017-07-13 -25.8 1.2857142857142858 Benign 1 -40415 Simple 150550899 C . Uncertain significance 2 2 not specified;Rasopathy 2016-10-24 -0.6 1.0 Uncertain significance 0 -40419 Simple 146517083 A . Benign/Likely benign 2 5 not specified;not provided;Rasopathy;Noonan-Like Syndrome Disorder 2017-07-17 -20.1 1.0 Benign/Likely benign 0 -40422 Simple 140725852 A . Uncertain significance 2 2 not specified;Rasopathy 2017-07-14 -0.5700000000000001 1.0 Uncertain significance 0 -40424 Simple 149533467 A . Benign 2 3 not specified;Rasopathy 2017-07-31 -13.2 3.3333333333333335 Benign/Likely benign 1 -40425 Simple 141710973 A . Likely benign 2 2 not specified;Rasopathy 2016-09-02 -4.8 3.0 Likely benign 0 -40428 Simple 397507499 G . Uncertain significance 2 2 not specified;Rasopathy 2017-07-31 -0.48 2.5 Uncertain significance 0 -40431 Simple 12628 G . Benign 3 4 not specified;not provided;Rasopathy 2017-04-03 -19.8 3.75 Benign/Likely benign 1 -40432 Simple 41258054 T . Benign 2 2 not specified 2013-08-21 -7.800000000000001 4.5 Likely benign 2 -40435 Simple 727503093 T . Likely pathogenic 3 2 Costello syndrome;Non-small cell lung cancer 2017-04-03 5.699999999999999 1.5 Likely pathogenic 0 -40437 Simple 138272051 G . Benign 3 4 Costello syndrome;not specified;Rasopathy 2017-04-03 -15.9 0.5 Benign/Likely benign 1 -40439 Simple 587782949 C . Uncertain significance 3 2 Pulmonic stenosis;Costello syndrome;Supravalvar aortic stenosis;not specified 2017-04-03 -0.51 2.5 Uncertain significance 0 -40440 Simple 575789207 T . Benign 3 2 Costello syndrome;Rasopathy 2017-04-18 -9.6 0.0 Benign/Likely benign 1 -40441 Simple 111352454 A . Benign 3 3 Costello syndrome;not specified;Rasopathy 2017-04-18 -15.6 2.0 Benign/Likely benign 1 -40442 Simple 397517140 C . Benign 3 2 not specified;Rasopathy 2017-04-18 -8.1 4.0 Likely benign 2 -40446 Simple 140060409 T . Benign 3 3 Costello syndrome;not specified;Rasopathy 2017-04-18 -16.2 1.6666666666666667 Benign/Likely benign 1 -40448 Simple 397517144 A . Benign 3 3 Costello syndrome;not specified;Rasopathy 2017-04-18 -9.78 2.0 Benign/Likely benign 1 -40452 Simple 727503110 C . Pathogenic 3 6 Noonan syndrome 3;Noonan syndrome;not specified;not provided;Rasopathy;Cardiofaciocutaneous syndrome 2 2017-04-03 30.9 1.5 Pathogenic 0 -40454 Simple 104894366 A . Pathogenic 3 4 Noonan syndrome;not provided;Rasopathy 2017-04-03 20.4 2.5 Pathogenic 0 -40464 Simple 12313763 T . Benign/Likely benign 2 5 Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-08-04 -20.4 2.8 Benign/Likely benign 0 -40470 Simple 121913237 A . Pathogenic/Likely pathogenic 2 2 Malignant melanoma of skin;Multiple myeloma;Acute myeloid leukemia;Noonan syndrome;Myelodysplastic syndrome;not provided;Malignant melanoma;Colorectal Neoplasms;Adenocarcinoma of stomach;Malignant neoplasm of body of uterus 2016-05-31 6.0 6.5 Likely pathogenic 1 -40476 Simple 143020946 T . Benign/Likely benign 2 3 not specified;Rasopathy 2015-04-16 -7.800000000000001 4.333333333333333 Likely benign 1 -40482 Simple 397507501 G . Pathogenic 2 4 Noonan syndrome;not provided;Rasopathy 2016-06-23 20.400000000000002 2.5 Pathogenic 0 -40484 Simple 397507503 T . Likely pathogenic 3 3 Noonan syndrome;not provided 2017-04-03 8.1 2.0 Likely pathogenic 0 -40486 Simple 397507505 C . Pathogenic 2 5 Noonan syndrome 1;Noonan syndrome;not provided;Rasopathy 2016-12-05 29.4 1.2 Pathogenic 0 -40487 Simple 397507505 G . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-03-11 16.8 1.3333333333333333 Pathogenic 0 -40488 Simple 397507506 A . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-04-06 16.2 1.3333333333333333 Pathogenic 0 -40489 Simple 397507506 G . Pathogenic/Likely pathogenic 2 4 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome;not provided 2017-05-18 19.2 2.0 Pathogenic 1 -40490 Simple 397507507 A . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided 2015-01-15 9.6 3.0 Pathogenic/Likely pathogenic 0 -40493 Simple 397507509 C . Pathogenic 2 4 Noonan syndrome 1;Noonan syndrome;not provided;Rasopathy 2017-11-02 23.4 0.75 Pathogenic 0 -40495 Simple 397507510 A . Pathogenic 2 4 Noonan syndrome 1;LEOPARD syndrome 1;not provided;Rasopathy 2017-08-01 21.6 1.25 Pathogenic 0 -40498 Simple 397507511 C . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-08-21 16.8 1.3333333333333333 Pathogenic 0 -40499 Simple 397507512 C . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided 2017-03-22 8.1 2.0 Likely pathogenic 1 -40500 Simple 121918453 C . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided 2013-02-04 5.4 5.0 Likely pathogenic 1 -40502 Simple 397507514 T . Pathogenic 2 2 Noonan syndrome;not provided;Rasopathy 2016-10-11 11.4 1.5 Pathogenic/Likely pathogenic 1 -40503 Simple 397507514 C . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-07-29 15.0 2.3333333333333335 Pathogenic 0 -40504 Simple 397507515 G . Uncertain significance 3 3 not specified;Rasopathy 2017-04-03 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -40506 Simple 397507517 C . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-10-03 17.4 0.6666666666666666 Pathogenic 0 -40507 Simple 397507518 A . Pathogenic 2 2 Noonan syndrome;not provided 2016-03-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -40511 Simple 146749153 C . Likely benign 3 2 not specified;Rasopathy 2017-04-18 -3.57 1.0 Uncertain significance 2 -40512 Simple 397507520 T . Pathogenic 2 3 not provided;Rasopathy 2016-10-10 16.8 1.6666666666666667 Pathogenic 0 -40513 Simple 397507520 C . Pathogenic 3 9 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome;not specified;not provided;Rasopathy 2017-04-03 51.6 1.1111111111111112 Pathogenic 0 -40515 Simple 397507522 T . Benign/Likely benign 2 2 Rasopathy;Cardiovascular phenotype 2017-02-13 -5.7 1.5 Likely benign 1 -40516 Simple 41304351 C . Benign 3 4 Noonan syndrome;not specified;Rasopathy 2017-04-03 -21.6 3.25 Benign/Likely benign 1 -40518 Simple 397507523 G . Pathogenic/Likely pathogenic 2 4 not specified;not provided;Rasopathy 2017-06-13 17.4 0.5 Pathogenic 1 -40520 Simple 397507525 T . Pathogenic 3 3 Noonan syndrome;not provided;Rasopathy 2017-04-03 18.0 1.0 Pathogenic 0 -40522 Simple 376607329 A . Pathogenic 3 6 Noonan syndrome 1;Noonan syndrome;not specified;not provided;Rasopathy 2017-04-03 26.43 1.0 Pathogenic 0 -40523 Simple 397507527 T . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided 2016-08-09 8.4 2.0 Pathogenic/Likely pathogenic 0 -40525 Simple 397507529 G . Pathogenic 2 4 Noonan syndrome 1;not provided;Rasopathy 2016-12-21 21.6 2.0 Pathogenic 0 -40526 Simple 397507530 G . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided 2016-04-07 8.7 1.5 Pathogenic/Likely pathogenic 0 -40528 Simple 397507531 C . Pathogenic 2 4 Noonan syndrome;not provided;Rasopathy 2017-10-26 21.0 2.0 Pathogenic 0 -40530 Simple 187389813 C . Benign 3 3 Noonan syndrome;not specified;Rasopathy 2017-04-03 -12.78 2.0 Benign/Likely benign 1 -40531 Simple 144391508 C . Benign 2 1 Noonan syndrome;not specified 2014-05-29 . 5.0 . 0 -40532 Simple 41279090 T . Benign 2 1 Noonan syndrome;not specified 2014-05-29 . 5.0 . 0 -40533 Simple 121918463 G . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2015-06-13 13.8 3.3333333333333335 Pathogenic/Likely pathogenic 1 -40534 Simple 117730996 T . Benign 2 0 not specified;Rasopathy . . . . 0 -40535 Simple 121918455 C . Pathogenic 2 2 Noonan syndrome;not provided 2016-11-04 9.0 3.5 Pathogenic/Likely pathogenic 1 -40536 Simple 201787206 G . Benign 3 6 not specified;Rasopathy;Cardiovascular phenotype 2017-04-03 -21.24 1.5 Benign/Likely benign 1 -40538 Simple 369739920 C . Benign/Likely benign 2 1 not specified;Rasopathy 2016-01-29 . 2.0 . 0 -40539 Simple 397507533 T . Benign/Likely benign 2 1 Rasopathy 2015-12-06 . 2.0 . 0 -40541 Simple 397507534 A . Benign 3 2 not specified;Rasopathy 2017-04-18 -6.869999999999999 1.0 Likely benign 2 -40542 Simple 12301915 A . Benign/Likely benign 2 7 Metachondromatosis;Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy 2017-07-31 -27.6 2.7142857142857144 Benign 1 -40546 Simple 121918468 T . Pathogenic 2 2 Noonan syndrome with multiple lentigines;not provided 2014-02-08 7.2 6.0 Likely pathogenic 2 -40547 Simple 397507537 C . Pathogenic 2 2 not provided;Rasopathy 2017-06-29 11.4 1.0 Pathogenic/Likely pathogenic 1 -40549 Simple 397507539 A . Pathogenic 2 3 Noonan syndrome;not provided 2015-09-11 14.4 3.0 Pathogenic/Likely pathogenic 1 -40550 Simple 397507539 T . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-02-02 16.8 1.6666666666666667 Pathogenic 0 -40551 Simple 397507540 A . Pathogenic 2 2 Noonan syndrome;not provided 2017-05-17 11.4 1.0 Pathogenic/Likely pathogenic 1 -40552 Simple 397507540 T . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-10-17 15.0 2.0 Pathogenic 0 -40553 Simple 397507541 T . Pathogenic 2 2 LEOPARD syndrome 1;not provided;Rasopathy 2017-07-14 10.8 1.5 Pathogenic/Likely pathogenic 1 -40554 Simple 397507542 T . Pathogenic 2 4 Noonan syndrome 1;LEOPARD syndrome 1;not provided;Rasopathy 2017-02-15 22.2 1.75 Pathogenic 0 -40555 Simple 397507543 A . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2016-12-25 15.600000000000001 2.3333333333333335 Pathogenic 0 -40556 Simple 121918458 G . Pathogenic 2 2 not provided;Rasopathy 2017-02-01 10.2 2.5 Pathogenic/Likely pathogenic 1 -40557 Simple 397507544 T . Pathogenic 2 2 Noonan syndrome;not provided 2017-07-10 10.2 2.0 Pathogenic/Likely pathogenic 1 -40558 Simple 397507545 C . Pathogenic 2 5 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome;not provided;Rasopathy 2017-07-13 28.8 1.0 Pathogenic 0 -40559 Simple 397507545 A . Pathogenic 2 4 Noonan syndrome;not provided;Rasopathy 2017-07-31 21.0 1.75 Pathogenic 0 -40561 Simple 397507546 A . Pathogenic 2 2 not provided;Rasopathy 2017-01-25 10.8 2.0 Pathogenic/Likely pathogenic 1 -40562 Simple 397507547 G . Pathogenic 3 8 Noonan syndrome;not specified;not provided;Rasopathy;Cardiovascular phenotype 2017-04-03 45.0 1.375 Pathogenic 0 -40563 Simple 397507548 C . Pathogenic 2 4 Noonan syndrome with multiple lentigines;LEOPARD syndrome 1;not provided;Rasopathy 2017-06-19 22.2 1.5 Pathogenic 0 -40566 Simple 397507549 G . Pathogenic 2 4 LEOPARD syndrome 1;not provided;Rasopathy 2017-02-03 20.4 2.5 Pathogenic 0 -40567 Simple 397507550 C . Pathogenic 3 3 LEOPARD syndrome 1;not provided;Rasopathy 2017-04-03 13.5 2.0 Pathogenic/Likely pathogenic 1 -40570 Simple 148176616 T . Benign 3 7 Noonan syndrome;not specified;not provided;Rasopathy;Cardiovascular phenotype 2017-04-03 -23.1 1.5714285714285714 Benign/Likely benign 1 -40574 Simple 61761285 C . Benign/Likely benign 2 3 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -40583 Simple 397516824 C . Likely benign 3 3 not specified;Rasopathy 2017-04-03 -6.3 1.0 Likely benign 0 -40585 Simple 192632236 T . Benign 3 6 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy 2017-04-03 -22.8 1.3333333333333333 Benign/Likely benign 1 -40588 Simple 184022679 C . Benign 3 4 not specified;Rasopathy 2017-04-03 -15.78 1.5 Benign/Likely benign 1 -40597 Simple 148759910 C . Likely benign 2 3 not specified;Rasopathy;Cardiovascular phenotype 2016-11-02 -8.1 2.0 Likely benign 0 -40599 Simple 397516826 A . Pathogenic 3 3 Noonan syndrome;not provided;Rasopathy 2017-04-03 12.3 4.0 Pathogenic/Likely pathogenic 1 -40600 Simple 727505017 G . Likely pathogenic 3 4 Primary familial hypertrophic cardiomyopathy;Noonan syndrome;not provided;Rasopathy;Malignant melanoma 2017-04-03 16.2 1.75 Pathogenic 2 -40601 Simple 3730271 T . Pathogenic 3 3 Noonan syndrome;not provided;Rasopathy 2017-04-03 12.0 3.3333333333333335 Pathogenic/Likely pathogenic 1 -40605 Simple 121434594 C . Pathogenic/Likely pathogenic 2 4 Noonan syndrome 5;Primary familial hypertrophic cardiomyopathy;Noonan syndrome;not provided 2016-06-27 18.0 2.5 Pathogenic 1 -40606 Simple 397516828 C . Pathogenic 2 3 Noonan syndrome 5;Noonan syndrome;not provided 2016-02-17 15.0 2.6666666666666665 Pathogenic 0 -40607 Simple 397516830 C . Likely pathogenic 3 3 Noonan syndrome;not provided;Rasopathy 2017-04-03 9.0 3.0 Pathogenic/Likely pathogenic 1 -40609 Simple 5746219 G . Likely benign 3 5 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy 2017-04-18 -9.6 0.8 Benign/Likely benign 1 -40611 Simple 5746220 A . Benign 3 6 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy 2017-04-18 -28.2 1.3333333333333333 Benign 0 -40612 Simple 370243307 G . Uncertain significance 3 5 not specified;Rasopathy;Cardiovascular phenotype 2017-04-03 -5.67 1.8 Likely benign 2 -40613 Simple 397516813 G . Likely pathogenic 3 4 Noonan syndrome;not provided;Rasopathy 2017-04-03 15.6 2.0 Pathogenic 2 -40614 Simple 730880382 A . Uncertain significance 3 3 not specified;not provided;Rasopathy 2017-04-03 -0.9299999999999999 0.3333333333333333 Uncertain significance 0 -40618 Simple 397516815 C . Pathogenic/Likely pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-06-20 11.4 1.0 Pathogenic/Likely pathogenic 0 -40620 Simple 114687276 T . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -40621 Simple 5746244 G . Benign 3 2 not provided;Rasopathy 2017-04-18 -9.6 0.0 Benign/Likely benign 1 -40625 Simple 147475396 G . Benign/Likely benign 2 3 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -40626 Simple 3730296 C . Benign 3 6 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardiovascular phenotype 2017-04-18 -26.4 2.1666666666666665 Benign 0 -40627 Simple 141791080 C . Benign 3 6 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardiovascular phenotype 2017-04-18 -18.6 1.0 Benign/Likely benign 1 -40628 Simple 144876026 T . Benign 3 6 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardiovascular phenotype 2017-04-18 -29.4 1.0 Benign 0 -40632 Simple 72819758 C . Benign/Likely benign 2 2 Noonan syndrome-like disorder with loose anagen hair 1;not specified 2016-06-14 -6.0 3.5 Likely benign 1 -40634 Simple 398124252 T . Uncertain significance 3 3 not specified;Rasopathy 2017-04-03 -0.72 3.0 Uncertain significance 0 -40635 Simple 397517231 C . Benign 3 3 not specified;Rasopathy 2017-04-03 -15.3 0.6666666666666666 Benign/Likely benign 1 -40637 Simple 730881019 G . Uncertain significance 2 2 not specified 2017-03-30 -0.48 2.5 Uncertain significance 0 -40638 Simple 201795589 G . Benign/Likely benign 2 2 Noonan syndrome-like disorder with loose anagen hair 1;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -40640 Simple 139592595 A . Benign 3 5 not specified;Rasopathy 2017-04-03 -17.1 1.4 Benign/Likely benign 1 -40641 Simple 150565592 C . Benign 3 5 not specified;Rasopathy 2017-04-03 -16.8 2.0 Benign/Likely benign 1 -40643 Simple 7609455 G . Benign 3 6 Noonan syndrome;not specified;Rasopathy;Gingival fibromatosis 2017-04-18 -25.8 2.6666666666666665 Benign 0 -40646 Simple 201352584 C . Uncertain significance 2 3 not specified;not provided;Rasopathy 2017-07-10 -0.8999999999999999 0.0 Uncertain significance 0 -40649 Simple 397517164 T . Pathogenic 3 4 Noonan syndrome;not provided;Rasopathy 2017-04-03 20.7 1.0 Pathogenic 0 -40651 Simple 397517172 C . Pathogenic 3 4 Noonan syndrome;not provided;Rasopathy 2017-04-03 24.0 0.5 Pathogenic 0 -40654 Simple 397517174 C . Uncertain significance 2 2 not specified;Rasopathy 2016-08-22 -0.54 2.0 Uncertain significance 0 -40655 Simple 55980502 A . Benign 3 6 Noonan syndrome;not specified;Rasopathy;Gingival fibromatosis 2017-04-18 -21.6 1.6666666666666667 Benign/Likely benign 1 -40660 Simple 139290271 G . Benign 3 6 not specified;not provided;Rasopathy 2017-04-03 -15.72 1.8333333333333333 Benign/Likely benign 1 -40662 Simple 137852813 G . Pathogenic 3 7 Noonan syndrome 4;Noonan syndrome;not provided;Rasopathy 2017-04-03 40.8 1.0 Pathogenic 0 -40665 Simple 141390073 T . Benign 3 6 Noonan syndrome;not specified;not provided;Rasopathy;Gingival fibromatosis 2017-04-03 -26.4 2.0 Benign 0 -40669 Simple 397517147 T . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-02-28 15.0 3.0 Pathogenic 0 -40673 Simple 727504295 T . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-08-11 13.8 3.0 Pathogenic/Likely pathogenic 1 -40678 Simple 397517149 G . Pathogenic 3 4 Noonan syndrome;not provided 2017-04-03 21.6 1.75 Pathogenic 0 -40680 Simple 397517153 G . Pathogenic 2 2 Noonan syndrome;not provided;Rasopathy 2017-07-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -40682 Simple 397517154 G . Pathogenic 2 4 Noonan syndrome;not provided;Rasopathy 2017-03-26 22.2 1.5 Pathogenic 0 -40683 Simple 397517154 T . Pathogenic 2 3 Noonan syndrome 4;Noonan syndrome;not provided 2017-05-15 15.0 2.3333333333333335 Pathogenic 0 -40684 Simple 267607079 A . Pathogenic 2 4 Gingival fibromatosis 1;Noonan syndrome 4;Noonan syndrome;not provided;Rasopathy 2017-05-18 19.8 3.25 Pathogenic 0 -40686 Simple 200786705 C . Likely benign 3 3 not specified;Rasopathy 2017-04-18 -6.3 1.0 Likely benign 0 -40687 Simple 553331572 T . Benign 3 2 Rasopathy 2017-04-18 -12.6 0.5 Benign/Likely benign 1 -40692 Simple 56219475 A . Benign 3 5 not specified;Rasopathy 2017-04-18 -25.2 3.4 Benign 0 -40697 Simple 140811086 T . Benign 3 7 Noonan syndrome;not specified;not provided;Rasopathy;Gingival fibromatosis 2017-04-03 -32.4 2.0 Benign 0 -40698 Simple 200794965 G . Likely benign 3 3 not specified;Rasopathy 2017-04-18 -3.84 1.3333333333333333 Uncertain significance 2 -40699 Simple 397517156 A . Pathogenic/Likely pathogenic 2 3 Noonan syndrome 4;Noonan syndrome;not provided 2017-06-21 12.6 2.0 Pathogenic/Likely pathogenic 0 -40702 Simple 142004123 T . Benign 3 5 not specified;Rasopathy 2017-04-03 -18.54 1.2 Benign/Likely benign 1 -40706 Simple 397517159 T . Pathogenic 3 5 Noonan syndrome;not provided;Rasopathy 2017-04-03 27.6 1.8 Pathogenic 0 -40708 Simple 149092581 T . Benign 3 5 not specified;Rasopathy 2017-04-18 -22.2 2.8 Benign/Likely benign 1 -40710 Simple 730880340 CC . Benign/Likely benign 2 3 Noonan syndrome;not specified;Cardio-facio-cutaneous syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -40713 Simple 35462677 T . Benign 3 3 not specified;Rasopathy 2017-04-18 -15.6 2.3333333333333335 Benign/Likely benign 1 -40714 Simple 145364368 G . Benign 3 4 not specified;Rasopathy 2017-04-18 -18.3 2.0 Benign/Likely benign 1 -40716 Simple 8192671 C . Benign 3 5 Noonan syndrome;not specified;Rasopathy 2017-04-03 -21.6 3.4 Benign/Likely benign 1 -40717 Simple 189695571 C . Benign 2 2 not specified 2013-01-02 -7.2 5.0 Likely benign 2 -40726 Simple 141565234 T . Uncertain significance 2 3 Noonan syndrome 4;not specified;Rasopathy 2017-03-16 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -40729 Simple 375550588 T . Uncertain significance 2 2 Noonan syndrome 4;Rasopathy 2017-08-01 -0.6 0.5 Uncertain significance 0 -40738 Simple 77796976 G . Benign/Likely benign 2 3 Noonan syndrome;not specified;Cardio-facio-cutaneous syndrome 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -40739 Simple 377720622 T . Likely benign 2 2 not specified;Rasopathy 2017-02-14 -5.4 2.0 Likely benign 0 -40747 Simple 397516793 C . Likely pathogenic 3 2 Cardio-facio-cutaneous syndrome 2017-05-09 6.9 2.5 Likely pathogenic 0 -40754 Simple 17586159 A . Benign 3 3 not specified;Rasopathy 2017-05-09 -15.6 3.3333333333333335 Benign/Likely benign 1 -40756 Simple 144080051 T . Benign 3 3 not specified;Rasopathy 2017-05-09 -11.7 1.6666666666666667 Benign/Likely benign 1 -40758 Simple 146869577 T . Benign 3 5 Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-05-09 -22.8 1.2 Benign/Likely benign 1 -40760 Simple 41306345 T . Benign 3 4 Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-05-09 -15.6 2.75 Benign/Likely benign 1 -40762 Simple 150841154 T . Benign 3 5 Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-05-09 -16.8 1.4 Benign/Likely benign 1 -40769 Simple 730880517 C . Pathogenic/Likely pathogenic 2 2 Cardiofaciocutaneous syndrome 1;not provided 2013-04-02 5.7 4.5 Likely pathogenic 1 -40770 Simple 8157 A . Benign 3 4 not specified;Rasopathy 2017-05-09 -21.0 3.0 Benign/Likely benign 1 -40779 Simple 397516790 C . Likely pathogenic 3 3 Rasopathy;Cardio-facio-cutaneous syndrome 2017-05-09 5.85 2.6666666666666665 Likely pathogenic 0 -40781 Simple 727504317 A . Pathogenic 3 4 Non-small cell lung cancer;not provided;Rasopathy;Cardiofaciocutaneous syndrome 3;Malignant melanoma;Cardio-facio-cutaneous syndrome 2017-05-09 23.4 1.0 Pathogenic 0 -40782 Simple 148656020 T . Benign/Likely benign 2 3 not specified;Rasopathy 2017-06-30 -9.3 2.3333333333333335 Benign/Likely benign 0 -40786 Simple 202220799 A . Uncertain significance 3 4 not specified;Rasopathy 2017-05-09 -1.08 1.75 Uncertain significance 0 -40787 Simple 200918323 T . Benign 3 1 Rasopathy 2017-05-09 . 0.0 . 0 -40793 Simple 10424722 G . Benign 3 3 not specified;Rasopathy 2017-05-09 -15.6 3.0 Benign/Likely benign 1 -40794 Simple 10424545 A . Benign 2 1 not specified 2012-06-13 . 5.0 . 0 -40802 Simple 139404261 A . Benign 3 3 not specified;Rasopathy 2017-05-09 -15.0 1.3333333333333333 Benign/Likely benign 1 -40808 Simple 201435249 T . Benign 3 5 not specified;not provided;Rasopathy 2017-05-09 -21.6 1.8 Benign/Likely benign 1 -40811 Simple 148291450 A . Benign 3 3 not specified;Rasopathy 2017-05-09 -14.1 3.0 Benign/Likely benign 1 -40813 Simple 727504382 T . Likely pathogenic 3 3 not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-05-09 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 1 -40816 Simple 10250 T . Benign 3 2 not specified;Rasopathy 2017-05-09 -9.6 5.0 Benign/Likely benign 1 -40824 Simple 539555837 C . Likely benign 3 2 not specified;Rasopathy 2017-05-09 -3.57 1.0 Uncertain significance 2 -40825 Simple 145934142 A . Benign 3 2 not specified;Rasopathy 2017-05-09 -8.1 4.0 Likely benign 2 -40826 Simple 142307980 A . Benign 3 3 not specified;Rasopathy 2017-05-09 -15.0 1.3333333333333333 Benign/Likely benign 1 -40827 Simple 11539506 A . Benign 3 3 not specified;Rasopathy 2017-05-09 -15.6 2.6666666666666665 Benign/Likely benign 1 -40828 Simple 150369301 T . Uncertain significance 2 2 not specified 2017-03-10 -0.54 1.5 Uncertain significance 0 -40832 Simple 200371894 A . Benign 3 4 not specified;Rasopathy 2017-05-09 -23.4 1.0 Benign/Likely benign 1 -40835 Simple 350911 C . Benign 2 2 not specified;not provided 2015-11-20 -9.0 3.5 Benign/Likely benign 1 -40840 Simple 143275018 A . Benign/Likely benign 2 2 not specified;Rasopathy 2016-08-08 -6.0 3.5 Likely benign 1 -40842 Simple 730880514 T . Uncertain significance 2 2 not specified;Rasopathy 2017-06-03 -0.6 0.0 Uncertain significance 0 -40843 Simple 144383241 A . Benign 3 5 not specified;Rasopathy 2017-05-09 -26.7 1.0 Benign 0 -40846 Simple 144850779 A . Benign 3 3 not specified;Rasopathy 2017-05-09 -11.1 2.6666666666666665 Benign/Likely benign 1 -40987 Simple 61739916 C . Benign/Likely benign 2 2 Multiple epiphyseal dysplasia 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -40999 Simple 1800291 C . Benign 2 2 Hereditary factor VIII deficiency disease;not specified;Hemophilia A, FVIII Deficiency 2016-10-11 -12.0 1.0 Benign/Likely benign 1 -41000 Simple 1800292 G . Benign 2 2 Hereditary factor VIII deficiency disease;not specified;Hemophilia A, FVIII Deficiency 2016-11-21 -12.0 1.0 Benign/Likely benign 1 -41001 Simple 1800297 C . Benign 2 2 Hereditary factor VIII deficiency disease;not specified;Hemophilia A, FVIII Deficiency 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -41003 Simple 397507553 - . Pathogenic 2 2 Fanconi anemia;Fanconi anemia, complementation group A;not specified;not provided 2017-07-26 12.0 0.0 Pathogenic/Likely pathogenic 1 -41022 Simple 281865128 G . Pathogenic/Likely pathogenic 2 4 Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I;not provided 2017-05-18 20.1 1.25 Pathogenic 1 -41044 Simple 74863634 A . Benign/Likely benign 2 4 Carney complex, type 1;Carney complex;Hereditary cancer-predisposing syndrome;Acrodysostosis 2017-08-03 -15.0 0.75 Benign/Likely benign 0 -41046 Simple 3841514 TT . Benign/Likely benign 2 3 Carney complex;not specified;Hereditary cancer-predisposing syndrome;Acrodysostosis 2016-11-25 -15.0 1.0 Benign/Likely benign 0 -41047 Simple 3730349 A . Benign/Likely benign 2 5 Carney complex, type 1;Carney complex;not specified;Hereditary cancer-predisposing syndrome;Acrodysostosis 2017-11-06 -21.0 0.6 Benign/Likely benign 0 -41065 Simple 312262868 - . Pathogenic 2 2 Oral-facial-digital syndrome;not provided 2017-06-09 9.6 2.5 Pathogenic/Likely pathogenic 1 -41088 Simple 145300245 A . Benign 2 3 Joubert syndrome;Oral-facial-digital syndrome;not specified 2017-06-23 -16.2 1.6666666666666667 Benign/Likely benign 1 -41153 Simple 312262858 - . Pathogenic 2 2 Oral-facial-digital syndrome;not provided 2017-08-14 10.2 2.0 Pathogenic/Likely pathogenic 1 -41221 Simple 1801582 G . Benign/Likely benign 2 2 Parkinson disease 2;not specified;Parkinson Disease, Juvenile 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -41222 Simple 1801334 T . Benign 2 1 Parkinson disease 2;not specified 2017-07-27 . 0.0 . 0 -41223 Simple 1801474 T . Benign/Likely benign 2 1 Parkinson disease 2;not specified;Parkinson Disease, Juvenile 2016-06-14 . 1.0 . 0 -41233 Simple 139425890 A . Pathogenic/Likely pathogenic 2 3 Inclusion body myopathy 2;Nonaka myopathy 2016-06-14 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -41236 Simple 58982919 C . Pathogenic 2 2 Charcot-Marie-Tooth disease, demyelinating, type 1f;Charcot-Marie-Tooth disease type 2E;not provided 2017-03-29 12.0 0.0 Pathogenic/Likely pathogenic 1 -41271 Simple 3759871 G . Benign/Likely benign 2 3 Spastic paraplegia 11, autosomal recessive;not specified;Spastic Paraplegia, Recessive 2017-04-13 -17.4 1.0 Benign/Likely benign 0 -41285 Simple 312262737 A . Pathogenic/Likely pathogenic 2 3 Spastic paraplegia 11, autosomal recessive;not provided;Spastic Paraplegia, Recessive 2016-11-01 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -41286 Simple 312262738 AA . Pathogenic 2 2 Spastic paraplegia 11, autosomal recessive;not provided 2016-09-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -41305 Simple 36014111 T . Benign/Likely benign 2 4 Spastic paraplegia 11, autosomal recessive;not specified;Spastic Paraplegia, Recessive 2017-08-04 -21.0 0.5 Benign/Likely benign 0 -41348 Simple 312262782 - . Pathogenic 2 2 Spastic paraplegia 11, autosomal recessive;not provided 2017-05-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -41357 Simple 80338869 A . Benign 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2017-08-09 -12.0 0.5 Benign/Likely benign 1 -41366 Simple 80338868 T . Benign/Likely benign 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2017-07-25 -9.0 0.0 Benign/Likely benign 0 -41370 Simple 3751526 C . Benign/Likely benign 2 5 Legius syndrome;not specified 2016-06-14 -23.400000000000002 2.2 Benign/Likely benign 0 -41371 Simple 7182445 A . Benign/Likely benign 2 4 Legius syndrome;not specified 2016-06-14 -17.400000000000002 2.5 Benign/Likely benign 0 -41377 Simple 55741253 A . Benign/Likely benign 2 3 Spondylocostal dysostosis 1, autosomal recessive;Jarcho-Levin syndrome;not specified;Syndactyly 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -41378 Simple 8107127 G . Benign 2 4 Spondylocostal dysostosis 1, autosomal recessive;Jarcho-Levin syndrome;not specified;Syndactyly 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -41379 Simple 1110627 C . Benign 2 3 Spondylocostal dysostosis 1, autosomal recessive;Jarcho-Levin syndrome;not specified;Syndactyly 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -41442 Simple 397507507 T . Pathogenic/Likely pathogenic 2 2 not provided 2016-11-16 6.6 3.0 Likely pathogenic 1 -41445 Simple 71645935 A . Benign/Likely benign 2 6 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2016-06-14 -17.7 3.1666666666666665 Benign/Likely benign 0 -41446 Simple 121913364 G . Pathogenic 2 3 not provided;Rasopathy 2016-04-12 15.600000000000001 2.3333333333333335 Pathogenic 0 -41447 Simple 371976102 C . Benign 3 4 not specified;Rasopathy 2017-04-18 -20.1 1.25 Benign/Likely benign 1 -41449 Simple 1137282 G . Benign 3 6 Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-03 -27.0 2.5 Benign 0 -41450 Simple 1980869 C . Benign 2 1 not specified 2013-03-18 . 4.0 . 0 -41452 Simple 7179118 A . Benign 2 2 not specified 2015-10-15 -10.8 2.0 Benign/Likely benign 1 -41453 Simple 7180446 A . Benign/Likely benign 2 5 Legius syndrome;not specified 2016-11-18 -23.400000000000002 2.2 Benign/Likely benign 0 -41500 Simple 33974176 T . Benign/Likely benign 2 10 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-15 -42.9 2.4 Benign 1 -41501 Simple 199740875 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-01 -1.2 0.75 Uncertain significance 0 -41504 Simple 200089324 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-21 -1.2 0.25 Uncertain significance 0 -41508 Simple 199775075 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-05-23 -1.2 0.75 Uncertain significance 0 -41510 Simple 201375478 G . Uncertain significance 2 8 Desmoid disease, hereditary;Carcinoma of colon;Familial adenomatous polyposis 1;Neoplasm of stomach;not specified;not provided;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome 2017-10-24 -2.25 1.125 Uncertain significance 0 -41514 Simple 2229995 A . Benign/Likely benign 2 8 Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-11 -37.800000000000004 2.375 Benign 1 -41515 Simple 200406572 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 -1.17 0.75 Uncertain significance 0 -41516 Simple 72541816 G . Benign/Likely benign 2 8 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-10 -34.2 1.875 Benign 1 -41518 Simple 137854580 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2016-07-22 -0.5700000000000001 1.5 Uncertain significance 0 -41522 Simple 200339830 T . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-23 -1.5 0.2 Uncertain significance 0 -41524 Simple 201764637 A . Uncertain significance 2 7 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 -2.07 0.7142857142857143 Uncertain significance 0 -41529 Simple 202161017 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-01-22 -0.87 1.3333333333333333 Uncertain significance 0 -41530 Simple 143796828 T . Uncertain significance 2 6 Desmoid disease, hereditary;Carcinoma of colon;Familial adenomatous polyposis 1;Neoplasm of stomach;not specified;not provided;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome 2017-10-13 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -41531 Simple 386833393 - . Uncertain significance 2 2 not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 -0.54 1.5 Uncertain significance 0 -41532 Simple 200794097 G . Uncertain significance 2 7 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 -1.92 1.2857142857142858 Uncertain significance 0 -41535 Simple 201727026 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-03-23 -1.2 0.75 Uncertain significance 0 -41540 Simple 1801426 G . Benign 3 19 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-01-12 -94.98 2.3684210526315788 Benign 0 -41541 Simple 41293475 T . Benign 3 14 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -51.24 1.8571428571428572 Benign 0 -41544 Simple 11571653 G . Benign 3 9 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-01-12 -38.28 2.2222222222222223 Benign 0 -41545 Simple 1799944 G . Benign 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-01-12 -79.68 2.1333333333333333 Benign 0 -41546 Simple 80358600 T . Benign 3 15 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -71.04 1.8 Benign 0 -41547 Simple 202230438 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -41548 Simple 28897721 A . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -29.64 1.7142857142857142 Benign 0 -41549 Simple 28897727 T . Benign 3 18 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -80.04 2.2777777777777777 Benign 0 -41553 Simple 80359516 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -41556 Simple 4987117 T . Benign 3 19 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-01-12 -93.18 2.210526315789474 Benign 0 -41558 Simple 1799954 T . Benign 3 20 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -95.04 1.9 Benign 0 -41561 Simple 55953736 G . Benign 3 18 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer 2016-09-28 -75.0 2.0555555555555554 Benign 0 -41562 Simple 4986860 G . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-01-12 -82.38 2.0 Benign 0 -41564 Simple 28897747 T . Benign 3 17 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -66.24 2.235294117647059 Benign 0 -41565 Simple 28897749 A . Benign/Likely benign 2 18 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-21 -80.7 2.0555555555555554 Benign 1 -41567 Simple 766173 C . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-01-12 -67.08 2.3846153846153846 Benign 0 -41569 Simple 4987047 T . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-01-12 -79.08 2.6470588235294117 Benign 0 -41570 Simple 11571769 A . Benign 3 22 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-28 -107.7 2.1363636363636362 Benign 0 -41571 Simple 139052578 A . Uncertain significance 2 4 not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-12 -1.2 0.75 Uncertain significance 0 -41572 Simple 11571831 A . Benign 3 16 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-01-12 -78.18 1.875 Benign 0 -41577 Simple 146179135 G . Uncertain significance 2 4 Melanoma-pancreatic cancer syndrome;not specified;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-03 -1.2 0.25 Uncertain significance 0 -41578 Simple 6413464 A . Benign/Likely benign 2 6 Melanoma-pancreatic cancer syndrome;not specified;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-15 -30.0 1.5 Benign 1 -41580 Simple 3731249 T . Benign 2 7 Melanoma-pancreatic cancer syndrome;not specified;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-14 -36.6 2.142857142857143 Benign 0 -41582 Simple 201532589 A . Uncertain significance 2 2 Fumarase deficiency;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -41584 Simple 201502246 G . Uncertain significance 2 2 Fumarase deficiency;not provided;Hereditary cancer-predisposing syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -41587 Simple 201892477 T . Uncertain significance 2 2 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-15 -0.5700000000000001 1.5 Uncertain significance 0 -41588 Simple 63751005 C . Likely benign 3 9 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -28.71 2.111111111111111 Benign 2 -41590 Simple 3136334 G . Uncertain significance 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -7.101 1.1666666666666667 Likely benign 2 -41593 Simple 142254875 T . Uncertain significance 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -10.131 1.0 Benign/Likely benign 3 -41594 Simple 201191389 G . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-05 -0.87 1.0 Uncertain significance 0 -41596 Simple 3211299 T . Benign 3 9 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -36.72 2.111111111111111 Benign 0 -41599 Simple 3822214 C . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Chronic myeloid leukemia;Mastocytosis;Partial albinism;not specified;not provided 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -41608 Simple 200690492 G . Uncertain significance 2 3 Renal cell carcinoma, papillary, 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -41611 Simple 33917957 G . Benign 2 5 Renal cell carcinoma, papillary, 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-11 -26.4 2.0 Benign 0 -41627 Simple 55985569 T . Benign/Likely benign 2 6 Renal cell carcinoma, papillary, 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-17 -21.3 1.3333333333333333 Benign/Likely benign 0 -41632 Simple 63750447 A . Benign 3 9 Lynch syndrome I;Adenocarcinoma of lung;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Adenocarcinoma of stomach;Hereditary nonpolyposis colon cancer 2013-09-05 -41.82 2.111111111111111 Benign 0 -41633 Simple 63750361 A . Uncertain significance 3 6 Lynch syndrome II;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -7.041 1.5 Likely benign 2 -41634 Simple 41294980 A . Benign 3 8 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -31.02 2.125 Benign 0 -41635 Simple 63751684 T . Likely benign 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -14.31 1.1666666666666667 Benign/Likely benign 1 -41636 Simple 63750876 G . Likely benign 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -20.01 1.3333333333333333 Benign/Likely benign 1 -41637 Simple 55907433 G . Likely benign 3 9 Endometrial carcinoma;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -40.11 1.6666666666666667 Benign 2 -41638 Simple 63751225 C . Uncertain significance 3 4 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -6.531 1.0 Likely benign 2 -41639 Simple 35831931 A . Benign 3 7 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -31.02 2.4285714285714284 Benign 0 -41640 Simple 2308317 A . Benign 3 11 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -52.32 2.1818181818181817 Benign 0 -41641 Simple 17224367 T . Benign 3 8 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -33.42 2.0 Benign 0 -41644 Simple 63749910 C . Likely benign 3 7 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.81 1.0 Likely benign 0 -41645 Simple 201118107 G . Uncertain significance 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -7.101 1.1666666666666667 Likely benign 2 -41646 Simple 41295288 G . Uncertain significance 3 4 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -14.031 1.75 Benign/Likely benign 3 -41650 Simple 63750466 A . Uncertain significance 3 5 Lynch syndrome I;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-03-01 -6.831 1.0 Likely benign 2 -41651 Simple 34136999 T . Uncertain significance 3 7 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -15.531 0.8571428571428571 Benign/Likely benign 3 -41661 Simple 2227968 A . Benign/Likely benign 2 4 Gorlin syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-03 -16.8 1.25 Benign/Likely benign 0 -41663 Simple 357564 A . Benign 2 6 Gorlin syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2016-06-14 -34.2 1.5 Benign 0 -41670 Simple 200302954 G . Uncertain significance 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-21 -0.87 1.0 Uncertain significance 0 -41673 Simple 112306990 A . Benign/Likely benign 2 10 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-11 -46.2 1.2 Benign 1 -41674 Simple 201336602 G . Uncertain significance 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-12 -0.5700000000000001 1.5 Uncertain significance 0 -41677 Simple 143474365 G . Uncertain significance 2 2 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-27 -0.5700000000000001 1.0 Uncertain significance 0 -41680 Simple 200572531 T . Uncertain significance 2 2 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-25 -0.5700000000000001 1.0 Uncertain significance 0 -41682 Simple 202004587 A . Uncertain significance 2 6 Endometrial carcinoma;Macrocephaly/autism syndrome;Meningioma, familial;Squamous cell carcinoma of the head and neck;Bannayan-Riley-Ruvalcaba syndrome;Malignant tumor of prostate;Thyroid cancer, follicular;VACTERL association with hydrocephalus;Glioma susceptibility 2;PTEN hamartoma tumor syndrome;Cowden syndrome 1;Cutaneous malignant melanoma 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-14 -1.74 0.6666666666666666 Uncertain significance 0 -41685 Simple 148992508 T . Uncertain significance 2 2 Retinoblastoma;not provided;Hereditary cancer-predisposing syndrome 2017-04-09 -0.6 0.5 Uncertain significance 0 -41693 Simple 200827913 T . Uncertain significance 2 2 Tuberous sclerosis 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-10 -0.54 2.0 Uncertain significance 0 -41700 Simple 1073123 G . Benign/Likely benign 2 8 Lymphangiomyomatosis;Tuberous sclerosis 1;Malignant tumor of urinary bladder;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-12 -41.4 2.125 Benign 1 -41701 Simple 63750685 C . Uncertain significance 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -20.301 2.6666666666666665 Benign/Likely benign 3 -41702 Simple 1805323 T . Benign 3 8 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -39.42 2.125 Benign 0 -41703 Simple 2228007 C . Benign 3 9 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -39.72 2.5555555555555554 Benign 0 -41704 Simple 74902811 A . Benign 3 8 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -37.92 1.75 Benign 0 -41705 Simple 63750668 A . Likely benign 3 10 Lynch syndrome I;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -42.51 2.5 Benign 2 -41706 Simple 63750055 T . Likely benign 3 8 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -30.81 2.25 Benign 2 -41707 Simple 1805318 A . Benign 3 8 Lynch syndrome I;Hereditary nonpolyposis colorectal cancer type 4;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-10-10 -41.28 2.375 Benign 0 -41708 Simple 1805324 T . Benign 3 9 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -43.62 2.3333333333333335 Benign 0 -41713 Simple 63750123 C . Likely benign 3 12 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-10-10 -51.480000000000004 1.9166666666666667 Benign 2 -41716 Simple 10254120 T . Benign 3 7 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 -32.82 2.5714285714285716 Benign 0 -41717 Simple 201811667 T . Uncertain significance 2 2 not specified;not provided;Hereditary cancer-predisposing syndrome 2016-10-06 -0.5700000000000001 1.5 Uncertain significance 0 -41718 Simple 201395630 A . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 4;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-29 -1.2 0.75 Uncertain significance 0 -41719 Simple 201375580 T . Uncertain significance 2 2 Lynch syndrome;not specified;not provided 2016-12-06 -0.5700000000000001 1.5 Uncertain significance 0 -41720 Simple 201921616 T . Uncertain significance 2 3 not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -41725 Simple 1800725 A . Benign/Likely benign 2 8 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-14 -42.6 1.25 Benign 1 -41729 Simple 1800729 A . Benign/Likely benign 2 9 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-11 -39.0 1.2222222222222223 Benign 1 -41730 Simple 45517203 A . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-21 -17.4 1.0 Benign/Likely benign 0 -41734 Simple 45466493 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 -14.4 0.6666666666666666 Benign/Likely benign 0 -41736 Simple 45517319 A . Benign/Likely benign 2 8 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-27 -39.0 1.25 Benign 1 -41737 Simple 45517320 T . Benign/Likely benign 2 8 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-21 -32.7 2.0 Benign 1 -41738 Simple 45517323 A . Benign/Likely benign 2 7 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-18 -33.9 1.2857142857142858 Benign 1 -41740 Simple 45517333 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -41741 Simple 45474795 T . Benign/Likely benign 2 6 Tuberous sclerosis 2;Autism spectrum disorders;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-14 -26.7 1.6666666666666667 Benign 1 -41745 Simple 9209 C . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 -22.5 1.4 Benign/Likely benign 0 -41746 Simple 45517419 A . Benign/Likely benign 2 9 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-03 -42.9 1.6666666666666667 Benign 1 -41754 Simple 200229669 A . Uncertain significance 2 6 MYH-associated polyposis;Pilomatrixoma;Carcinoma of colon;Neoplasm of stomach;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-24 -1.77 0.6666666666666666 Uncertain significance 0 -41755 Simple 140118273 A . Benign/Likely benign 2 10 MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-15 -51.3 1.8 Benign 1 -41756 Simple 3219496 T . Benign/Likely benign 2 7 MYH-associated polyposis;Carcinoma of colon;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 -29.4 0.7142857142857143 Benign 1 -41757 Simple 3219497 T . Benign/Likely benign 2 5 MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-21 -22.2 2.2 Benign/Likely benign 0 -41758 Simple 200747973 C . Uncertain significance 2 3 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-05-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -41760 Simple 3219484 T . Benign/Likely benign 2 7 MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-20 -32.4 2.4285714285714284 Benign 1 -41761 Simple 200495564 A . Pathogenic/Likely pathogenic 2 5 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-08-14 26.7 0.8 Pathogenic 1 -41767 Simple 3219489 G . Benign 2 7 MYH-associated polyposis;Carcinoma of colon;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-10 -39.0 1.5714285714285714 Benign 0 -41770 Simple 201585157 T . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;not provided;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.0 Uncertain significance 0 -41773 Simple 201210474 C . Benign/Likely benign 2 5 Pheochromocytoma;Paragangliomas 3;not specified;not provided 2017-02-12 -16.5 1.6 Benign/Likely benign 0 -41776 Simple 201286421 T . Pathogenic 2 3 Paragangliomas 3;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-09-25 18.0 0.0 Pathogenic 0 -41777 Simple 200851392 G . Uncertain significance 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;not provided;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2016-06-10 -0.6 1.0 Uncertain significance 0 -41780 Simple 113849804 A . Uncertain significance 2 6 Juvenile polyposis syndrome;Hereditary mixed polyposis syndrome 2;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -41781 Simple 201345248 G . Uncertain significance 2 3 Juvenile polyposis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8999999999999999 0.0 Uncertain significance 0 -41782 Simple 11528010 A . Benign 2 5 Juvenile polyposis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-07-10 -28.8 1.2 Benign 0 -41786 Simple 201511530 A . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-14 -1.5 0.6 Uncertain significance 0 -41794 Simple 35597368 C . Benign 2 2 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified;not provided 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -41797 Simple 36035373 A . Benign/Likely benign 2 4 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 -14.7 1.0 Benign/Likely benign 0 -41803 Simple 1799950 C . Benign 3 16 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Ductal breast carcinoma 2015-08-10 -79.14 2.375 Benign 0 -41805 Simple 28897677 T . Benign 3 14 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -58.14 1.9285714285714286 Benign 0 -41806 Simple 55650082 T . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -19.44 1.4 Benign/Likely benign 1 -41807 Simple 45564238 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-05-18 -1.4100000000000001 1.6 Uncertain significance 0 -41808 Simple 4986850 T . Benign 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -73.74 2.466666666666667 Benign 0 -41809 Simple 80357467 G . Benign 3 12 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -44.34 2.25 Benign 0 -41810 Simple 56082113 C . Benign 3 15 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -68.64 2.4 Benign 0 -41811 Simple 41286300 A . Benign 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -42.54 2.1 Benign 0 -41812 Simple 799917 A . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -67.14 1.9230769230769231 Benign 0 -41813 Simple 202004680 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-01-06 -0.8999999999999999 1.0 Uncertain significance 0 -41814 Simple 1800704 T . Benign 3 11 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -44.64 2.0 Benign 0 -41815 Simple 16941 C . Benign 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -60.54 2.1666666666666665 Benign 0 -41816 Simple 80357201 A . Benign 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -39.24 2.2 Benign 0 -41817 Simple 2227945 C . Benign 3 14 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -57.54 2.642857142857143 Benign 0 -41818 Simple 16942 C . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -66.54 2.076923076923077 Benign 0 -41821 Simple 28897689 C . Benign 3 19 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -86.04 1.8421052631578947 Benign 0 -41823 Simple 55971303 T . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -25.98 1.5714285714285714 Benign 0 -41825 Simple 80357470 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-14 -1.2 0.5 Uncertain significance 0 -41826 Simple 1800744 A . Benign 3 13 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -64.14 2.3846153846153846 Benign 0 -41827 Simple 1799966 C . Benign 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -74.04 2.1333333333333333 Benign 0 -41828 Simple 4986854 G . Benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -44.94 1.6666666666666667 Benign 0 -41829 Simple 200432771 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 -0.6 1.0 Uncertain significance 0 -41830 Simple 1799967 T . Benign 3 16 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -73.71000000000001 2.125 Benign 0 -41832 Simple 80356858 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-27 -0.5700000000000001 1.5 Uncertain significance 0 -41835 Simple 28897675 C . Benign 3 14 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer 2015-08-10 -53.61 1.9285714285714286 Benign 0 -41842 Simple 145170911 A . Uncertain significance 2 6 Congenital central hypoventilation;Hirschsprung disease 1;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-20 -1.71 1.0 Uncertain significance 0 -41843 Simple 199718928 C . Uncertain significance 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not provided;Hereditary cancer-predisposing syndrome 2017-03-23 -1.2 0.75 Uncertain significance 0 -41854 Simple 607969 T . Benign/Likely benign 2 9 Multiple endocrine neoplasia, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia 2017-08-22 -41.7 1.4444444444444444 Benign 1 -41855 Simple 374659656 G . Uncertain significance 2 5 Multiple endocrine neoplasia, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome;Hyperparathyroidism;Multiple endocrine neoplasia 2017-05-05 -1.5 0.8 Uncertain significance 0 -41912 Simple 387907329 A . Pathogenic 2 2 Seizures;not provided;Neurodegeneration with brain iron accumulation 5;Hypoplasia of the corpus callosum;Absent speech;Delayed speech and language development;Global developmental delay;Delayed gross motor development 2017-10-03 10.8 1.5 Pathogenic/Likely pathogenic 1 -42016 Simple 61755320 T . Pathogenic/Likely pathogenic 2 9 Spastic paraplegia 7;Hereditary spastic paraplegia;not provided;Spastic Paraplegia, Recessive 2017-09-12 46.2 0.8888888888888888 Pathogenic 1 -42018 Simple 201540674 A . Pathogenic/Likely pathogenic 2 3 Idiopathic fibrosing alveolitis, chronic form;not provided;Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 2017-09-25 14.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -42035 Simple 150518260 A . Pathogenic/Likely pathogenic 2 6 Limb-girdle muscular dystrophy, type 2E;Beta-sarcoglycanopathy;not provided 2017-06-16 31.5 1.1666666666666667 Pathogenic 1 -42066 Simple 367543036 T . Pathogenic/Likely pathogenic 2 2 Bloom syndrome 2017-04-05 5.7 1.0 Likely pathogenic 1 -42067 Simple 367543028 T . Pathogenic 2 3 Bloom syndrome;not provided 2017-09-07 17.4 1.0 Pathogenic 0 -42071 Simple 367543024 - . Pathogenic 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -42076 Simple 367543014 - . Pathogenic 2 5 Bloom syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-05 29.4 1.0 Pathogenic 0 -42175 Simple 6628 T . Benign 2 2 Lissencephaly 1;not specified;Lissencephaly/Subcortical Band Heterotopia 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -42217 Simple 111033325 A . Benign/Likely benign 2 2 not specified;not provided 2016-12-29 -8.4 1.5 Benign/Likely benign 0 -42222 Simple 111033326 A . Benign 2 2 not specified;not provided 2016-11-16 -10.8 2.0 Benign/Likely benign 1 -42238 Simple 2229992 C . Benign, other 2 7 Familial colorectal cancer;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-10 -38.4 1.7142857142857142 Benign 0 -42239 Simple 351771 A . Benign, other 2 8 Familial colorectal cancer;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-10 -44.4 1.625 Benign 0 -42240 Simple 397515732 AA . Likely pathogenic 2 2 Familial adenomatous polyposis 1 2016-04-28 4.8 3.0 Likely pathogenic 0 -42242 Simple 41115 A . Benign, other 2 7 Familial colorectal cancer;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-10 -38.4 1.7142857142857142 Benign 0 -42243 Simple 42427 A . Benign, other 2 7 Familial colorectal cancer;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-10 -38.4 1.7142857142857142 Benign 0 -42244 Simple 34506289 A . Benign/Likely benign 2 8 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-15 -37.8 1.625 Benign 1 -42245 Simple 866006 G . Benign, other 2 7 Familial colorectal cancer;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-10 -38.4 1.7142857142857142 Benign 0 -42247 Simple 465899 A . Benign, other 2 7 Familial colorectal cancer;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-10 -38.4 1.7142857142857142 Benign 0 -42248 Simple 397515734 T . Pathogenic 2 4 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-05-08 21.0 1.75 Pathogenic 0 -42249 Simple 2229994 T . Benign/Likely benign 2 8 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-17 -37.8 2.375 Benign 1 -42250 Simple 35043160 G . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-21 -31.2 2.7142857142857144 Benign 1 -42253 Simple 397515737 T . Uncertain significance 2 2 not specified 2017-03-17 -0.44999999999999996 3.0 Uncertain significance 0 -42259 Simple 146934311 C . Benign/Likely benign 2 10 3-Methylglutaconic aciduria type 2;Endocardial fibroelastosis;not specified;Dilated cardiomyopathy 3B;not provided;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype 2017-07-31 -40.800000000000004 2.1 Benign 1 -42261 Simple 397515744 G . Uncertain significance 2 5 3-Methylglutaconic aciduria type 2;Endocardial fibroelastosis;not specified;Dilated cardiomyopathy 3B;Left ventricular noncompaction cardiomyopathy 2016-06-14 -1.47 1.2 Uncertain significance 0 -42262 Simple 370536414 A . Likely benign 2 2 not specified 2016-07-14 -4.5 4.5 Likely benign 0 -42270 Simple 35902788 A . Benign/Likely benign 2 7 3-Methylglutaconic aciduria type 2;Endocardial fibroelastosis;not specified;Dilated cardiomyopathy 3B;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype 2017-08-04 -23.7 1.7142857142857142 Benign/Likely benign 0 -42271 Simple 200537612 T . Benign 2 4 Emery-Dreifuss muscular dystrophy 1, X-linked;not specified 2017-07-25 -20.4 2.25 Benign/Likely benign 1 -42274 Simple 143447675 T . Benign 2 4 Emery-Dreifuss muscular dystrophy 1, X-linked;not specified 2017-05-16 -19.8 2.5 Benign/Likely benign 1 -42277 Simple 397515752 G . Likely benign 2 2 not specified 2016-04-14 -4.5 4.0 Likely benign 0 -42283 Simple 397515756 C . Pathogenic 2 2 Marfan syndrome;not provided 2015-09-09 8.4 5.5 Pathogenic/Likely pathogenic 1 -42284 Simple 397515757 T . Pathogenic 2 4 Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;Acromicric dysplasia;Geleophysic dysplasia 2;Thoracic aortic aneurysm and aortic dissection;not provided;Marfan lipodystrophy syndrome 2017-10-05 22.8 1.0 Pathogenic 0 -42285 Simple 113812345 A . Pathogenic 2 5 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-11 26.4 2.2 Pathogenic 0 -42287 Simple 25398 A . Benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-15 -71.4 2.0 Benign 0 -42293 Simple 397515763 C . Uncertain significance 2 2 not specified 2014-01-18 -0.36 5.0 Uncertain significance 0 -42295 Simple 25403 A . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2016-01-14 5.7 6.5 Likely pathogenic 1 -42297 Simple 25458 G . Benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2016-08-15 -70.2 2.3076923076923075 Benign 0 -42298 Simple 140606 G . Benign/Likely benign 2 12 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-05-10 -36.0 1.5 Benign 1 -42299 Simple 199625633 T . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-04-24 -0.54 1.5 Uncertain significance 0 -42307 Simple 25404 T . Pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-05-22 15.6 2.0 Pathogenic 0 -42311 Simple 397515775 T . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2015-05-07 6.9 5.5 Likely pathogenic 1 -42319 Simple 140590 A . Benign/Likely benign 2 11 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-08 -37.8 1.8181818181818181 Benign 1 -42320 Simple 140591 T . Benign/Likely benign 2 12 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-12 -39.0 1.5 Benign 1 -42321 Simple 140954477 T . Uncertain significance 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-03-13 -0.75 3.3333333333333335 Uncertain significance 0 -42324 Simple 397515784 C . Pathogenic/Likely pathogenic 2 2 Marfan syndrome 2017-08-01 7.5 5.0 Likely pathogenic 1 -42327 Simple 397515786 T . Pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-11 9.0 4.0 Pathogenic/Likely pathogenic 1 -42330 Simple 140587 A . Benign/Likely benign 2 9 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-17 -42.0 2.7777777777777777 Benign 1 -42337 Simple 80344206 C . Benign/Likely benign 2 12 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-18 -45.0 1.3333333333333333 Benign 1 -42338 Simple 200125037 T . Uncertain significance 2 2 not specified 2014-10-30 -0.39 6.0 Uncertain significance 0 -42344 Simple 397515797 G . Likely pathogenic 2 2 Marfan syndrome;not provided 2014-01-18 3.9000000000000004 4.5 Uncertain significance 2 -42351 Simple 397515802 G . Pathogenic 2 2 Marfan syndrome 2016-10-06 10.8 2.0 Pathogenic/Likely pathogenic 1 -42355 Simple 201273753 C . Uncertain significance 2 5 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-01 -1.41 1.0 Uncertain significance 0 -42358 Simple 397515806 A . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-02-14 -0.54 2.0 Uncertain significance 0 -42363 Simple 397515810 T . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-06-19 7.5 4.5 Likely pathogenic 1 -42365 Simple 397515812 A . Pathogenic/Likely pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2018-01-05 13.5 3.3333333333333335 Pathogenic/Likely pathogenic 0 -42366 Simple 111231312 A . Pathogenic 2 4 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-30 23.4 0.75 Pathogenic 0 -42368 Simple 148024160 A . Benign/Likely benign 2 2 not specified 2016-06-28 -8.4 2.0 Benign/Likely benign 0 -42372 Simple 397515814 T . Likely pathogenic 2 2 Marfan syndrome;not provided 2016-06-24 4.5 5.5 Likely pathogenic 0 -42373 Simple 113905529 A . Pathogenic 2 2 Marfan syndrome;not provided 2017-02-13 9.6 3.0 Pathogenic/Likely pathogenic 1 -42381 Simple 140649 T . Benign/Likely benign 2 7 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-17 -31.8 3.142857142857143 Benign 1 -42382 Simple 113249837 A . Pathogenic 2 4 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2017-06-08 19.8 2.5 Pathogenic 0 -42384 Simple 397515822 A . Likely benign 2 10 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2017-08-10 -28.5 1.8 Benign 2 -42385 Simple 111929350 T . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2014-08-12 6.6 4.0 Likely pathogenic 1 -42392 Simple 371560107 T . Benign/Likely benign 2 11 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-06-14 -36.9 1.5454545454545454 Benign 1 -42393 Simple 363807 A . Pathogenic 2 2 Marfan syndrome;not provided 2013-07-02 7.2 7.0 Likely pathogenic 2 -42394 Simple 193922219 T . Pathogenic 2 3 Marfan syndrome;Ectopia lentis;not provided;Arachnodactyly;Ischemic stroke;Aortic root dilatation;Dissecting aortic aneurysm;Melanoma;Severe Myopia 2017-03-20 15.600000000000001 2.0 Pathogenic 0 -42399 Simple 397515832 C . Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-04-08 -4.8 3.0 Likely benign 0 -42401 Simple 111687884 A . Pathogenic 2 4 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-02-24 20.4 2.5 Pathogenic 0 -42407 Simple 113001196 A . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2016-07-29 7.8 3.0 Likely pathogenic 1 -42408 Simple 363824 G . Benign/Likely benign 2 14 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-04-27 -48.9 1.7142857142857142 Benign 1 -42410 Simple 397515839 A . Likely benign 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-12-06 -7.5 2.6666666666666665 Likely benign 0 -42412 Simple 363836 G . Benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-21 -72.0 2.0 Benign 0 -42413 Simple 363830 T . Benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-21 -72.0 2.0 Benign 0 -42417 Simple 397515843 A . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-06-09 -4.2 6.0 Likely benign 0 -42420 Simple 397515846 - . Pathogenic 2 2 Marfan syndrome;not provided 2014-03-12 7.8 5.0 Likely pathogenic 2 -42429 Simple 397515854 T . Pathogenic 2 2 Marfan syndrome;not provided 2014-12-01 7.8 7.0 Likely pathogenic 2 -42433 Simple 363838 G . Benign 2 12 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-21 -67.2 1.8333333333333333 Benign 0 -42434 Simple 141133182 T . Uncertain significance 2 4 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-04-10 -1.14 1.25 Uncertain significance 0 -42435 Simple 397515858 T . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2014-11-20 -3.9 5.0 Uncertain significance 2 -42437 Simple 143055643 G . Benign/Likely benign 2 4 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-07-05 -15.3 2.5 Benign/Likely benign 0 -42438 Simple 397515859 T . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2013-05-02 5.7 6.0 Likely pathogenic 1 -42439 Simple 145105768 T . Uncertain significance 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2016-06-14 -2.55 1.6666666666666667 Uncertain significance 0 -42444 Simple 138574576 A . Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-27 -6.3 4.0 Likely benign 0 -42449 Simple 3027585 T . Benign/Likely benign 2 4 Fabry disease;not specified;Hypertrophic cardiomyopathy 2016-06-14 -15.6 2.0 Benign/Likely benign 0 -42452 Simple 397515869 C . Likely benign 2 2 not specified 2016-11-30 -5.7 1.5 Likely benign 0 -42453 Simple 146177035 A . Benign/Likely benign 2 3 Fabry disease;not specified 2016-10-08 -12.9 3.6666666666666665 Benign/Likely benign 0 -42456 Simple 397515870 T . Pathogenic/Likely pathogenic 2 2 Fabry disease 2016-03-08 7.8 2.0 Likely pathogenic 1 -42458 Simple 201655854 - . Benign 2 2 not specified 2016-07-20 -9.0 4.0 Benign/Likely benign 1 -42460 Simple 397515872 G . Likely benign 2 2 Fabry disease;not specified 2017-05-17 -5.7 1.0 Likely benign 0 -42463 Simple 200744672 A . Likely benign 2 2 not specified 2017-01-12 -4.8 3.0 Likely benign 0 -42465 Simple 151208856 A . Benign/Likely benign 2 3 Fabry disease;not specified 2017-05-30 -8.7 3.0 Benign/Likely benign 0 -42466 Simple 151195362 T . Benign/Likely benign 2 3 Fabry disease;not specified 2017-06-20 -16.2 1.6666666666666667 Benign/Likely benign 0 -42467 Simple 55708305 T . Benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -28.62 2.1666666666666665 Benign 0 -42468 Simple 56371757 T . Benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -28.62 2.1666666666666665 Benign 0 -42469 Simple 397515875 C . Pathogenic/Likely pathogenic 2 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-12 7.5 3.0 Likely pathogenic 1 -42470 Simple 3136351 T . Likely benign 3 9 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -35.01 2.4444444444444446 Benign 2 -42471 Simple 2020911 T . Benign 3 8 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -37.620000000000005 2.625 Benign 0 -42472 Simple 267608094 T . Pathogenic 3 7 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 35.82 1.7142857142857142 Pathogenic 0 -42473 Simple 1801140 G . Benign 2 4 Arteriohepatic dysplasia;not specified;Cardiovascular phenotype;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -20.4 2.75 Benign/Likely benign 1 -42474 Simple 56225585 A . Benign 2 4 Alagille syndrome 1;Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2017-08-01 -21.0 2.0 Benign/Likely benign 1 -42475 Simple 35761929 C . Benign/Likely benign 2 4 Arteriohepatic dysplasia;not specified;Cardiovascular phenotype 2016-06-14 -16.8 3.0 Benign/Likely benign 0 -42476 Simple 1051415 T . Benign/Likely benign 2 3 Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -9.0 3.0 Benign/Likely benign 0 -42477 Simple 114048678 A . Benign/Likely benign 2 5 Alagille syndrome 1;Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2017-03-10 -21.0 1.8 Benign/Likely benign 0 -42478 Simple 1051421 A . Benign 2 4 Arteriohepatic dysplasia;not specified;Cardiovascular phenotype;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -42480 Simple 6040067 T . Benign/Likely benign 2 3 Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -42481 Simple 1801138 A . Benign/Likely benign 2 4 Arteriohepatic dysplasia;not specified;not provided;Cardiovascular phenotype;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -42482 Simple 10485741 C . Benign/Likely benign 2 3 Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -9.0 3.0 Benign/Likely benign 0 -42483 Simple 45575136 A . Benign/Likely benign 2 5 Alagille syndrome 1;Arteriohepatic dysplasia;not specified;Cardiovascular phenotype;Isolated Nonsyndromic Congenital Heart Disease 2017-08-12 -22.8 1.2 Benign/Likely benign 0 -42484 Simple 28730756 G . Benign/Likely benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2017-07-20 -30.6 1.375 Benign 1 -42485 Simple 28730758 T . Benign/Likely benign 2 6 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2016-06-14 -18.6 1.6666666666666667 Benign/Likely benign 0 -42486 Simple 17215465 T . Benign/Likely benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2017-08-17 -30.0 1.5 Benign 1 -42488 Simple 1057128 A . Benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2016-06-14 -42.0 2.25 Benign 0 -42489 Simple 11601907 T . Benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2016-06-14 -41.4 2.375 Benign 0 -42490 Simple 28730752 A . Benign 2 7 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-08-21 -39.6 1.4285714285714286 Benign 0 -42491 Simple 150711844 T . Benign/Likely benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-07-04 -28.2 1.875 Benign 1 -42492 Simple 75813654 A . Likely benign 2 4 Long QT syndrome;not specified;not provided 2017-07-10 -10.8 1.5 Benign/Likely benign 1 -42493 Simple 28730754 T . Benign/Likely benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2017-08-05 -30.6 1.375 Benign 1 -42496 Simple 63751049 C . Benign 3 9 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -26.04 1.6666666666666667 Benign 0 -42497 Simple 397515879 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-26 -7.5 2.3333333333333335 Likely benign 0 -42498 Simple 397515880 A . Likely benign 2 3 not specified;Cardiovascular phenotype 2016-07-21 -6.6 3.6666666666666665 Likely benign 0 -42499 Simple 397515881 T . Uncertain significance 2 2 not specified 2016-08-11 -0.44999999999999996 3.5 Uncertain significance 0 -42501 Simple 397515883 T . Uncertain significance 2 2 not specified 2016-08-05 -0.48 3.0 Uncertain significance 0 -42503 Simple 397515885 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-05-30 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -42505 Simple 397515887 C . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-04-04 -0.44999999999999996 3.0 Uncertain significance 0 -42506 Simple 11570076 A . Benign/Likely benign 2 9 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-21 -32.7 2.7777777777777777 Benign 1 -42511 Simple 397515891 C . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-13 11.4 1.0 Pathogenic/Likely pathogenic 0 -42512 Simple 397515892 G . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-12-13 -0.44999999999999996 4.0 Uncertain significance 0 -42513 Simple 397515893 T . Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 2016-10-18 5.7 1.5 Likely pathogenic 0 -42514 Simple 397515894 - . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-01-27 16.8 1.6666666666666667 Pathogenic 0 -42516 Simple 368770848 A . Uncertain significance 2 4 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-06-26 -1.05 2.0 Uncertain significance 0 -42520 Simple 371167525 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-28 -0.48 2.5 Uncertain significance 0 -42521 Simple 377292092 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-12 -5.4 1.5 Likely benign 0 -42525 Simple 397515897 G . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2017-08-10 9.0 3.0 Pathogenic/Likely pathogenic 1 -42532 Simple 397515903 T . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2015-08-24 10.8 2.0 Pathogenic/Likely pathogenic 1 -42533 Simple 375347534 T . Uncertain significance 2 4 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-04-13 -0.99 2.5 Uncertain significance 0 -42537 Simple 397515905 C . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-05-13 22.8 1.2 Pathogenic 1 -42541 Simple 397515907 T . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-14 27.0 1.4 Pathogenic 1 -42545 Simple 11570082 T . Benign/Likely benign 2 4 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-07-31 -12.9 2.25 Benign/Likely benign 0 -42547 Simple 397515910 C . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy 2015-08-27 8.100000000000001 2.0 Likely pathogenic 1 -42552 Simple 397515913 T . Likely benign 2 2 not specified 2016-07-29 -5.7 1.5 Likely benign 0 -42554 Simple 369096037 T . Likely benign 2 2 not specified 2017-05-30 -5.4 1.5 Likely benign 0 -42556 Simple 397515916 A . Pathogenic/Likely pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-27 22.5 1.2 Pathogenic 1 -42562 Simple 397515922 T . Uncertain significance 2 8 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-03-02 -2.25 1.625 Uncertain significance 0 -42563 Simple 397515923 T . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy 2017-06-29 -1.08 1.75 Uncertain significance 0 -42564 Simple 397515924 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-10-18 -0.75 2.6666666666666665 Uncertain significance 0 -42565 Simple 397515925 - . Pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-01-24 22.2 1.75 Pathogenic 0 -42567 Simple 374852831 T . Benign 2 4 not specified;Hypertrophic cardiomyopathy 2017-04-27 -20.4 2.25 Benign/Likely benign 1 -42568 Simple 397515926 - . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2016-09-06 10.2 2.5 Pathogenic/Likely pathogenic 1 -42570 Simple 397515928 G . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-02-18 -0.48 3.0 Uncertain significance 0 -42573 Simple 372371774 C . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2017-07-27 -0.44999999999999996 3.0 Uncertain significance 0 -42577 Simple 377225516 G . Uncertain significance 2 5 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2016-06-27 -1.38 1.8 Uncertain significance 0 -42579 Simple 397515932 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-06-25 -4.8 3.0 Likely benign 0 -42580 Simple 397515933 - . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2017-09-06 9.0 3.0 Pathogenic/Likely pathogenic 1 -42581 Simple 397515934 - . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-04-17 13.8 3.0 Pathogenic/Likely pathogenic 1 -42582 Simple 397515935 T . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-27 15.600000000000001 2.0 Pathogenic 0 -42584 Simple 377227442 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-30 -5.7 1.0 Likely benign 0 -42585 Simple 397515937 C . Pathogenic 2 7 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-09-14 38.4 1.2857142857142858 Pathogenic 0 -42587 Simple 397515939 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2016-10-21 -0.78 2.3333333333333335 Uncertain significance 0 -42588 Simple 1800565 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-07-31 -0.75 2.6666666666666665 Uncertain significance 0 -42590 Simple 397515941 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2013-09-19 -0.39 4.5 Uncertain significance 0 -42595 Simple 397515946 G . Likely benign 2 2 not specified 2016-11-01 -4.5 4.0 Likely benign 0 -42596 Simple 397515947 - . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-11-06 17.4 0.6666666666666666 Pathogenic 0 -42597 Simple 397515948 TT . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 2015-07-29 8.4 4.5 Pathogenic/Likely pathogenic 1 -42602 Simple 397515952 - . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy 2012-06-19 6.6 5.5 Likely pathogenic 2 -42605 Simple 397515954 A . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided 2014-06-10 12.6 4.0 Pathogenic/Likely pathogenic 1 -42607 Simple 397515956 A . Uncertain significance 2 4 Familial hypertrophic cardiomyopathy 4;not specified;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy 2017-05-23 -0.96 2.75 Uncertain significance 0 -42608 Simple 199893357 A . Uncertain significance 2 5 not specified;not provided;Hypertrophic cardiomyopathy 2017-06-26 -1.17 2.8 Uncertain significance 0 -42610 Simple 112738974 T . Pathogenic 2 3 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-01-26 15.0 2.6666666666666665 Pathogenic 0 -42611 Simple 112738974 A . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-05-16 15.0 2.3333333333333335 Pathogenic 0 -42613 Simple 111729952 C . Pathogenic/Likely pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-20 25.2 1.4 Pathogenic 1 -42614 Simple 397515959 A . Likely benign 2 2 not specified 2016-08-01 -4.8 3.0 Likely benign 0 -42615 Simple 397515960 CC . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype 2014-06-16 13.2 3.6666666666666665 Pathogenic/Likely pathogenic 1 -42618 Simple 368104687 T . Uncertain significance 2 5 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not specified;Left ventricular noncompaction 10 2017-05-22 -1.23 2.6 Uncertain significance 0 -42619 Simple 397515963 CC . Pathogenic 2 9 Familial hypertrophic cardiomyopathy 1;Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-12 49.2 1.5555555555555556 Pathogenic 0 -42622 Simple 397515965 T . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-31 16.8 1.3333333333333333 Pathogenic 0 -42624 Simple 201040413 A . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2016-06-21 -9.3 3.3333333333333335 Benign/Likely benign 0 -42625 Simple 397515966 AA . Pathogenic/Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-10-05 19.5 1.5 Pathogenic 1 -42627 Simple 3729952 A . Benign/Likely benign 2 9 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-25 -35.4 2.5555555555555554 Benign 1 -42631 Simple 376936056 T . Uncertain significance 2 2 not specified 2017-08-01 -0.44999999999999996 3.5 Uncertain significance 0 -42632 Simple 397515970 AA . Pathogenic 2 2 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy 2015-05-30 8.4 4.0 Pathogenic/Likely pathogenic 1 -42635 Simple 397515973 - . Pathogenic 2 2 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;Cardiomyopathy 2012-02-10 6.0 6.0 Likely pathogenic 2 -42636 Simple 397515974 C . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided 2017-09-06 10.2 2.0 Pathogenic/Likely pathogenic 0 -42638 Simple 3729953 A . Benign/Likely benign 2 7 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-17 -26.4 3.142857142857143 Benign 1 -42639 Simple 397515975 AGA . Pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-29 22.8 1.0 Pathogenic 0 -42641 Simple 397515977 - . Pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-10-09 20.4 2.25 Pathogenic 0 -42644 Simple 376395543 C . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-27 16.8 1.3333333333333333 Pathogenic 1 -42645 Simple 11570097 A . Benign/Likely benign 2 7 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-24 -25.5 2.2857142857142856 Benign 1 -42646 Simple 397515979 GG . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2012-05-23 5.4 5.0 Likely pathogenic 1 -42650 Simple 397515982 T . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-08-31 17.4 0.6666666666666666 Pathogenic 1 -42651 Simple 372628478 T . Uncertain significance 2 2 not specified 2017-04-03 -0.44999999999999996 3.0 Uncertain significance 0 -42653 Simple 3729936 A . Benign/Likely benign 2 4 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -42654 Simple 397515983 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-02-07 -0.5700000000000001 1.5 Uncertain significance 0 -42656 Simple 397515985 T . Uncertain significance 2 4 Primary familial hypertrophic cardiomyopathy;Brugada syndrome;not specified;Hypertrophic cardiomyopathy 2017-04-18 -1.05 2.0 Uncertain significance 0 -42658 Simple 367980215 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-04-12 -4.8 2.5 Likely benign 0 -42662 Simple 397515989 C . Likely benign 2 2 not specified;Cardiovascular phenotype 2012-08-09 -3.3 5.5 Uncertain significance 2 -42663 Simple 397515990 - . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy 2017-06-15 25.8 2.0 Pathogenic 1 -42665 Simple 373056282 A . Uncertain significance 2 3 Primary familial hypertrophic cardiomyopathy;not specified 2017-08-11 -0.78 2.0 Uncertain significance 0 -42669 Simple 397515992 A . Pathogenic 2 4 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-06-15 22.2 1.25 Pathogenic 0 -42671 Simple 397515994 A . Uncertain significance 2 6 not specified;Hypertrophic cardiomyopathy;Paroxysmal atrial fibrillation;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-06-05 -1.65 1.6666666666666667 Uncertain significance 0 -42674 Simple 377283955 A . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-06-08 -9.9 2.0 Benign/Likely benign 0 -42676 Simple 3729799 A . Benign/Likely benign 2 4 not specified;Hypertrophic cardiomyopathy 2017-07-26 -13.8 3.25 Benign/Likely benign 0 -42677 Simple 397515997 - . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy 2012-02-14 4.5 6.5 Likely pathogenic 1 -42679 Simple 368180702 T . Uncertain significance 2 3 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-03-15 -0.75 2.6666666666666665 Uncertain significance 0 -42680 Simple 397515999 A . Uncertain significance 2 2 not specified 2017-01-18 -0.51 2.5 Uncertain significance 0 -42681 Simple 397516000 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 1;not specified 2015-03-11 -0.42000000000000004 4.0 Uncertain significance 0 -42689 Simple 397516004 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-02-10 -4.2 4.5 Likely benign 0 -42690 Simple 397516005 A . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided 2015-12-08 13.200000000000001 3.6666666666666665 Pathogenic/Likely pathogenic 1 -42691 Simple 113358486 C . Pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-08-07 22.8 1.0 Pathogenic 0 -42692 Simple 397516006 T . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 2017-03-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -42693 Simple 397516007 GG . Pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-11 26.4 1.8 Pathogenic 0 -42694 Simple 397516008 A . Pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-09-27 27.0 1.6 Pathogenic 0 -42696 Simple 397516010 A . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided 2017-06-08 11.7 3.0 Pathogenic/Likely pathogenic 0 -42700 Simple 1052373 T . Benign/Likely benign 2 8 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-03-25 -30.0 3.125 Benign 1 -42701 Simple 397516013 T . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 2017-03-26 9.0 3.0 Pathogenic/Likely pathogenic 1 -42704 Simple 397516015 G . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy 2017-09-12 -1.02 2.25 Uncertain significance 0 -42705 Simple 397516016 A . Uncertain significance 2 3 not specified;not provided 2017-01-05 -0.6599999999999999 4.0 Uncertain significance 0 -42706 Simple 373746463 G . Pathogenic/Likely pathogenic 2 6 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-09-13 33.6 1.0 Pathogenic 1 -42707 Simple 373746463 A . Pathogenic/Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Cardiovascular phenotype 2017-10-12 12.6 2.75 Pathogenic/Likely pathogenic 0 -42710 Simple 375116558 G . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-08-06 -0.5700000000000001 1.5 Uncertain significance 0 -42711 Simple 370890951 G . Likely benign 2 4 not specified;Hypertrophic cardiomyopathy;Cardiac arrest;Cardiovascular phenotype 2017-08-03 -11.7 0.5 Benign/Likely benign 1 -42712 Simple 187705120 G . Uncertain significance 2 2 not specified 2015-06-29 -0.45 3.5 Uncertain significance 0 -42713 Simple 373519667 T . Uncertain significance 2 5 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-11-07 -1.3499999999999999 1.8 Uncertain significance 0 -42714 Simple 397516019 ATAAATAA . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2013-05-29 7.2 5.0 Likely pathogenic 2 -42717 Simple 397516022 A . Pathogenic/Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-07-01 16.8 2.75 Pathogenic 1 -42718 Simple 397516023 - . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2017-04-20 9.0 3.0 Pathogenic/Likely pathogenic 1 -42722 Simple 117354682 T . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-22 -1.02 2.25 Uncertain significance 0 -42726 Simple 397516029 GG . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy 2015-02-05 6.6 3.5 Likely pathogenic 1 -42727 Simple 397516030 - . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-06-28 16.8 1.0 Pathogenic 0 -42728 Simple 397516031 T . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided 2016-08-22 13.8 3.6666666666666665 Pathogenic/Likely pathogenic 1 -42729 Simple 397516032 - . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2017-06-27 9.6 2.5 Pathogenic/Likely pathogenic 1 -42730 Simple 368221517 A . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2015-08-19 -9.9 2.6666666666666665 Benign/Likely benign 0 -42731 Simple 397516033 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2015-11-10 -0.54 2.0 Uncertain significance 0 -42735 Simple 397516037 A . Pathogenic/Likely pathogenic 2 6 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-08-04 28.5 2.1666666666666665 Pathogenic 1 -42737 Simple 397516038 - . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 2017-08-07 8.7 1.0 Pathogenic/Likely pathogenic 0 -42739 Simple 202147520 T . Uncertain significance 2 3 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-07-11 -0.87 1.0 Uncertain significance 0 -42741 Simple 397516040 - . Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2017-02-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -42742 Simple 397514751 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-07-03 -0.75 2.6666666666666665 Uncertain significance 0 -42744 Simple 397516042 A . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy 2017-05-18 22.2 1.6 Pathogenic 1 -42746 Simple 397516044 T . Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided 2017-02-15 7.2 3.0 Likely pathogenic 0 -42747 Simple 397516045 G . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2018-01-18 7.8 2.5 Likely pathogenic 1 -42748 Simple 397516046 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-12-30 -4.5 4.0 Likely benign 0 -42751 Simple 397516049 TT . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2016-01-25 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -42754 Simple 397516051 T . Uncertain significance 2 2 not specified 2015-02-05 -0.39 5.0 Uncertain significance 0 -42755 Simple 397516052 - . Pathogenic/Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-01-25 19.8 2.75 Pathogenic 1 -42756 Simple 373946195 G . Uncertain significance 2 3 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-03-26 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -42758 Simple 3729986 T . Benign/Likely benign 2 9 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-01-23 -33.6 3.5555555555555554 Benign 1 -42760 Simple 3218719 A . Benign/Likely benign 2 7 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-21 -26.4 3.0 Benign 1 -42763 Simple 11570050 - . Benign/Likely benign 2 7 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-11-10 -25.8 2.5714285714285716 Benign 1 -42765 Simple 397516057 G . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 2017-03-17 6.6 2.5 Likely pathogenic 1 -42768 Simple 11570051 A . Benign/Likely benign 2 7 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-22 -26.4 3.0 Benign 1 -42769 Simple 371842442 A . Likely benign 2 2 not specified 2017-11-07 -4.5 3.0 Likely benign 0 -42771 Simple 397516059 AA . Pathogenic/Likely pathogenic 2 4 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-05-26 23.4 1.0 Pathogenic 1 -42774 Simple 397516061 A . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2017-05-23 9.0 3.5 Pathogenic/Likely pathogenic 1 -42775 Simple 202139499 G . Uncertain significance 2 4 Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2017-10-13 -1.1099999999999999 1.5 Uncertain significance 0 -42776 Simple 397516062 C . Uncertain significance 2 2 not specified 2015-03-13 -0.51 2.5 Uncertain significance 0 -42778 Simple 397516064 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-22 -5.7 1.0 Likely benign 0 -42783 Simple 397516067 T . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Cardiovascular phenotype 2017-08-25 15.0 2.3333333333333335 Pathogenic 0 -42784 Simple 397516068 G . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-06-07 14.7 1.0 Pathogenic/Likely pathogenic 0 -42785 Simple 397516069 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-03-07 -0.5700000000000001 1.5 Uncertain significance 0 -42786 Simple 3729989 C . Benign/Likely benign 2 9 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -31.8 3.888888888888889 Benign 1 -42788 Simple 397516071 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-11-11 -0.54 2.0 Uncertain significance 0 -42789 Simple 375525278 A . Benign/Likely benign 2 2 not specified 2016-02-22 -7.2 3.5 Likely benign 1 -42790 Simple 397516072 T . Pathogenic/Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-27 13.2 3.5 Pathogenic/Likely pathogenic 0 -42791 Simple 397516073 T . Pathogenic/Likely pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-10-30 27.6 1.2 Pathogenic 1 -42792 Simple 397516074 T . Pathogenic/Likely pathogenic 2 8 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-09-20 43.8 1.5 Pathogenic 1 -42793 Simple 11570058 A . Benign/Likely benign 2 7 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -23.4 3.857142857142857 Benign/Likely benign 0 -42794 Simple 397516075 A . Uncertain significance 2 3 not specified 2016-07-27 -0.69 3.3333333333333335 Uncertain significance 0 -42796 Simple 397516077 T . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy 2016-01-01 5.1 2.5 Likely pathogenic 1 -42797 Simple 147315081 T . Benign 2 5 not specified;Hypertrophic cardiomyopathy;Personal and/or Family History of Cardiomyopathy 2017-10-25 -24.0 2.6 Benign 0 -42798 Simple 375774648 G . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2014-06-01 -0.42 4.0 Uncertain significance 0 -42801 Simple 397516080 - . Pathogenic/Likely pathogenic 2 4 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-28 20.4 2.25 Pathogenic 1 -42802 Simple 373204728 T . Uncertain significance 2 2 not specified 2017-09-13 -0.51 2.0 Uncertain significance 0 -42806 Simple 397516082 C . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-06-01 15.6 1.6666666666666667 Pathogenic 0 -42807 Simple 397516083 T . Pathogenic/Likely pathogenic 2 6 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy 2017-08-22 30.900000000000002 1.3333333333333333 Pathogenic 1 -42809 Simple 374326087 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-11-26 -4.5 4.0 Likely benign 0 -42810 Simple 374326087 G . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-06-10 -12.9 2.3333333333333335 Benign/Likely benign 0 -42812 Simple 369900803 A . Likely benign 2 2 not specified 2016-07-13 -4.5 5.5 Likely benign 0 -42813 Simple 34580776 T . Benign/Likely benign 2 7 Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-05 -30.3 3.142857142857143 Benign 1 -42816 Simple 200129563 A . Likely benign 2 8 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-06-19 -23.7 1.0 Benign/Likely benign 1 -42817 Simple 34803781 A . Benign 3 12 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -44.7 2.3333333333333335 Benign 0 -42819 Simple 735712 A . Benign 3 10 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -54.6 2.4 Benign 0 -42821 Simple 735711 T . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -58.2 2.6363636363636362 Benign 0 -42822 Simple 397516089 T . Likely pathogenic 3 4 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1S;Cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 20.1 1.25 Pathogenic 2 -42823 Simple 2231126 A . Benign 3 10 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -55.2 2.3 Benign 0 -42827 Simple 376160714 T . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-02-07 -0.54 2.0 Uncertain significance 0 -42833 Simple 397516096 T . Likely benign 2 1 not specified 2009-02-03 . 9.0 . 0 -42838 Simple 397516101 T . Pathogenic 3 4 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 18.0 2.75 Pathogenic 0 -42840 Simple 397516103 G . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-01-27 -0.8099999999999999 2.0 Uncertain significance 0 -42843 Simple 45508293 A . Benign 3 3 not specified;Hypertrophic cardiomyopathy 2016-12-15 -15.0 1.3333333333333333 Benign/Likely benign 1 -42853 Simple 2069543 C . Benign 3 12 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -63.3 2.0 Benign 0 -42854 Simple 397516115 T . Likely benign 2 2 not specified 2016-01-05 -4.2 5.0 Likely benign 0 -42863 Simple 201860580 T . Likely benign 2 8 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-07-25 -22.8 1.375 Benign/Likely benign 1 -42864 Simple 3729816 A . Benign 3 12 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -44.1 2.0833333333333335 Benign 0 -42868 Simple 200668471 A . Likely benign 2 8 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-11-04 -22.8 1.5 Benign/Likely benign 1 -42869 Simple 2069540 A . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -58.8 2.1818181818181817 Benign 0 -42874 Simple 397516127 A . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Congenital myopathy with fiber type disproportion;Dilated cardiomyopathy 1S;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;Scapuloperoneal myopathy, MYH7-related;not provided;Hypertrophic cardiomyopathy 2017-08-31 22.8 1.2 Pathogenic 1 -42875 Simple 371898076 T . Pathogenic 3 7 Familial hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Dilated cardiomyopathy 1S;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;Scapuloperoneal myopathy, MYH7-related;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 36.9 1.5714285714285714 Pathogenic 0 -42880 Simple 397516132 T . Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2014-05-23 4.5 3.5 Likely pathogenic 0 -42884 Simple 145738465 T . Benign 3 5 not specified;Hypertrophic cardiomyopathy 2016-12-15 -22.5 1.8 Benign/Likely benign 1 -42885 Simple 121913630 C . Pathogenic 3 4 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 22.2 2.0 Pathogenic 0 -42890 Simple 121913632 T . Pathogenic/Likely pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-04-20 19.2 2.0 Pathogenic 1 -42900 Simple 376754645 T . Uncertain significance 3 15 Familial hypertrophic cardiomyopathy 1;Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -23.58 1.3333333333333333 Benign/Likely benign 3 -42901 Simple 3218716 T . Pathogenic/Likely pathogenic 2 8 Familial hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Congenital myopathy with fiber type disproportion;Dilated cardiomyopathy 1S;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;Scapuloperoneal myopathy, MYH7-related;not provided;Hypertrophic cardiomyopathy 2017-07-18 35.4 1.75 Pathogenic 1 -42908 Simple 397516151 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-07-27 -4.8 3.0 Likely benign 0 -42910 Simple 397516153 A . Pathogenic 3 3 Familial hypertrophic cardiomyopathy 1;Familial restrictive cardiomyopathy 2016-12-15 15.0 3.0 Pathogenic 0 -42911 Simple 45560638 T . Benign 3 6 not specified;Hypertrophic cardiomyopathy 2016-12-15 -21.54 2.1666666666666665 Benign/Likely benign 1 -42912 Simple 397516154 T . Uncertain significance 2 2 not specified;Familial cardiomyopathy 2015-09-02 -0.48 3.0 Uncertain significance 0 -42913 Simple 397516155 - . Likely pathogenic 3 4 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 5.279999999999999 3.0 Likely pathogenic 0 -42915 Simple 144291282 T . Benign 3 5 not specified;Hypertrophic cardiomyopathy 2016-12-15 -20.04 2.8 Benign/Likely benign 1 -42918 Simple 148560996 A . Benign 3 4 not specified;Hypertrophic cardiomyopathy 2016-12-15 -15.6 2.25 Benign/Likely benign 1 -42920 Simple 199915408 A . Likely benign 2 2 not specified 2016-11-29 -6.0 1.0 Likely benign 0 -42922 Simple 397516161 C . Pathogenic 3 7 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 29.43 1.1428571428571428 Pathogenic 0 -42923 Simple 397516162 C . Uncertain significance 2 2 not specified 2016-12-06 -0.51 2.5 Uncertain significance 0 -42931 Simple 36211716 A . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -43.2 1.2727272727272727 Benign 0 -42933 Simple 397516171 T . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Cardiovascular phenotype 2017-03-24 12.9 2.3333333333333335 Pathogenic/Likely pathogenic 0 -42934 Simple 397516172 - . Likely pathogenic 3 3 Primary familial hypertrophic cardiomyopathy;not provided 2016-12-15 10.5 2.3333333333333335 Pathogenic/Likely pathogenic 1 -42937 Simple 397516175 A . Uncertain significance 2 2 not specified 2017-10-31 -0.48 2.5 Uncertain significance 0 -42939 Simple 142573531 A . Benign 3 4 not specified;Hypertrophic cardiomyopathy 2016-12-15 -18.3 4.0 Benign/Likely benign 1 -42940 Simple 147727900 T . Benign/Likely benign 2 2 not specified 2016-04-13 -7.5 4.5 Likely benign 1 -42941 Simple 145532615 G . Benign 3 14 Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Increased left ventricular wall thickness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -28.74 1.4285714285714286 Benign 0 -42942 Simple 7157716 G . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -58.8 2.5454545454545454 Benign 0 -42944 Simple 140245862 A . Benign 3 12 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-15 -42.54 1.5833333333333333 Benign 0 -42945 Simple 145379951 A . Benign 3 12 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -38.91 1.4166666666666667 Benign 0 -42946 Simple 45540831 T . Benign 3 11 Familial hypertrophic cardiomyopathy 1;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 -50.4 1.8181818181818181 Benign 0 -42948 Simple 397516178 A . Uncertain significance 2 2 not specified 2017-03-16 -0.54 1.5 Uncertain significance 0 -42949 Simple 138294643 T . Benign 3 9 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-15 -33.3 1.0 Benign 0 -42950 Simple 397516179 T . Uncertain significance 3 6 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 1.5 0.6666666666666666 Uncertain significance 0 -42952 Simple 36211408 A . Benign 3 5 not specified;Hypertrophic cardiomyopathy 2016-12-15 -19.2 2.4 Benign/Likely benign 1 -42953 Simple 45478699 A . Uncertain significance 3 5 Familial hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1S;not specified;Hypertrophic cardiomyopathy 2016-12-15 -1.47 1.4 Uncertain significance 0 -42956 Simple 45504498 GG . Benign 3 13 Familial hypertrophic cardiomyopathy 1;Myosin storage myopathy;Paroxysmal familial ventricular fibrillation 1;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -50.7 2.230769230769231 Benign 0 -42957 Simple 45554236 T . Benign 3 12 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -41.910000000000004 1.75 Benign 0 -42958 Simple 397516182 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2016-11-29 -0.84 1.6666666666666667 Uncertain significance 0 -42959 Simple 199552354 T . Uncertain significance 3 5 not specified;not provided;Hypertrophic cardiomyopathy 2016-12-15 -3.3000000000000003 1.8 Uncertain significance 0 -42962 Simple 149439730 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-28 -0.5700000000000001 1.0 Uncertain significance 0 -42965 Simple 397516187 T . Uncertain significance 3 4 Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified;not provided 2016-12-15 9.27 2.5 Pathogenic/Likely pathogenic 3 -42968 Simple 397516190 - . Likely pathogenic 3 3 Primary dilated cardiomyopathy;Ebstein's anomaly;Cardiovascular phenotype 2016-12-15 8.1 2.3333333333333335 Likely pathogenic 0 -42969 Simple 397516191 A . Likely benign 2 1 not specified 2014-01-19 . 4.0 . 0 -42970 Simple 377745688 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-06-20 -0.84 1.0 Uncertain significance 0 -42974 Simple 149103761 A . Benign 3 4 not specified;Hypertrophic cardiomyopathy 2016-12-15 -14.31 2.75 Benign/Likely benign 1 -42976 Simple 397516195 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2016-11-08 -0.8099999999999999 2.0 Uncertain significance 0 -42977 Simple 45467397 A . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;not provided;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-15 -34.71 1.5454545454545454 Benign 0 -42979 Simple 45501694 C . Benign 3 5 not specified;Hypertrophic cardiomyopathy 2016-12-15 -20.7 4.2 Benign/Likely benign 1 -42980 Simple 144420313 A . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-15 -36.51 2.0 Benign 0 -42983 Simple 3729820 A . Benign/Likely benign 2 8 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -23.1 2.0 Benign/Likely benign 0 -42985 Simple 372727092 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-23 -0.87 1.0 Uncertain significance 0 -42986 Simple 397516198 T . Uncertain significance 2 2 not specified 2016-02-17 -0.54 2.0 Uncertain significance 0 -42987 Simple 397516199 A . Uncertain significance 2 2 not specified 2017-10-23 -0.51 2.0 Uncertain significance 0 -42988 Simple 144465613 T . Benign 3 4 not specified;Hypertrophic cardiomyopathy 2016-12-15 -20.1 1.75 Benign/Likely benign 1 -42992 Simple 397516201 A . Likely pathogenic 3 5 Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2016-12-15 14.55 1.8 Pathogenic/Likely pathogenic 1 -42993 Simple 397516202 T . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided 2017-02-24 20.1 2.6 Pathogenic 1 -42999 Simple 371552806 T . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy 2017-04-28 -1.02 2.25 Uncertain significance 0 -43000 Simple 397516205 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-09-21 -4.8 3.0 Likely benign 0 -43001 Simple 3729821 T . Benign/Likely benign 2 9 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Dilated Cardiomyopathy, Dominant 2017-07-26 -30.9 1.3333333333333333 Benign 1 -43002 Simple 397516206 C . Uncertain significance 2 2 not specified 2015-02-05 -0.44999999999999996 3.5 Uncertain significance 0 -43003 Simple 145213771 A . Likely pathogenic 3 3 Primary familial hypertrophic cardiomyopathy;not specified 2016-12-15 2.76 1.6666666666666667 Uncertain significance 2 -43005 Simple 397516208 T . Uncertain significance 3 3 not specified;not provided 2016-12-15 2.43 1.6666666666666667 Uncertain significance 0 -43006 Simple 397516209 T . Likely pathogenic 3 8 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 31.2 1.5 Pathogenic 2 -43007 Simple 45560242 A . Likely benign 2 8 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -22.2 2.25 Benign/Likely benign 1 -43010 Simple 202205780 T . Benign/Likely benign 2 4 not specified;Hypertrophic cardiomyopathy 2017-07-27 -16.2 3.0 Benign/Likely benign 0 -43011 Simple 370093487 A . Uncertain significance 3 3 not specified 2016-12-15 -4.680000000000001 3.6666666666666665 Likely benign 2 -43012 Simple 201307101 A . Likely benign 3 10 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-12-15 -8.1 1.9 Likely benign 0 -43013 Simple 397516212 A . Pathogenic/Likely pathogenic 2 1 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy 2013-03-21 . 4.0 . 0 -43014 Simple 397516213 A . Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-01-12 -7.2 3.6666666666666665 Likely benign 0 -43018 Simple 397516217 A . Uncertain significance 2 2 not specified 2014-06-04 -0.44999999999999996 3.5 Uncertain significance 0 -43019 Simple 61737803 A . Benign 3 5 not specified;Hypertrophic cardiomyopathy 2016-12-15 -22.8 2.6 Benign/Likely benign 1 -43020 Simple 3729823 C . Benign 3 13 Familial hypertrophic cardiomyopathy 1;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -59.7 2.3076923076923075 Benign 0 -43023 Simple 397516220 - . Pathogenic 2 2 Myopathy, distal, 1;not provided;Hypertrophic cardiomyopathy 2017-06-03 11.4 1.0 Pathogenic/Likely pathogenic 1 -43027 Simple 2754155 G . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -41.1 2.0 Benign 0 -43029 Simple 397516225 A . Uncertain significance 3 3 not specified;Cardiovascular phenotype 2016-12-15 -0.84 2.0 Uncertain significance 0 -43031 Simple 200601164 T . Benign 3 2 not specified 2016-12-15 -8.1 3.5 Likely benign 2 -43032 Simple 7140196 A . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -43.2 1.7272727272727273 Benign 0 -43035 Simple 146858930 T . Benign 3 5 not specified;Hypertrophic cardiomyopathy 2016-12-15 -22.8 2.6 Benign/Likely benign 1 -43037 Simple 142034311 A . Benign/Likely benign 2 9 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-08-08 -28.8 1.2222222222222223 Benign 1 -43038 Simple 45500700 A . Benign 3 10 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-15 -36.3 1.6 Benign 0 -43041 Simple 397516230 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-09-18 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -43042 Simple 397516231 A . Uncertain significance 2 2 not specified 2017-05-09 -0.51 2.0 Uncertain significance 0 -43043 Simple 397516232 A . Uncertain significance 2 2 not specified 2017-04-11 -0.54 1.5 Uncertain significance 0 -43044 Simple 141122361 T . Uncertain significance 3 5 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2016-12-15 -3.87 1.2 Uncertain significance 0 -43045 Simple 151113658 A . Benign/Likely benign 2 2 not specified 2015-04-16 -7.2 3.5 Likely benign 1 -43046 Simple 373509029 A . Likely benign 2 2 not specified 2016-03-31 -4.8 3.0 Likely benign 0 -43047 Simple 397516233 A . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 1;not specified 2017-03-09 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -43048 Simple 374289523 A . Benign 3 3 not specified;Hypertrophic cardiomyopathy 2016-12-15 -14.1 2.6666666666666665 Benign/Likely benign 1 -43052 Simple 397516235 T . Uncertain significance 2 2 not specified 2013-09-25 -0.39 4.5 Uncertain significance 0 -43056 Simple 3729830 T . Benign 3 10 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -55.2 2.3 Benign 0 -43059 Simple 397516241 T . Uncertain significance 3 4 not specified;Hypertrophic cardiomyopathy 2016-12-15 -1.1400000000000001 1.75 Uncertain significance 0 -43063 Simple 397516245 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-08-04 -0.87 1.0 Uncertain significance 0 -43065 Simple 201171029 C . Benign/Likely benign 2 4 not specified;Hypertrophic cardiomyopathy 2017-07-13 -16.8 2.5 Benign/Likely benign 0 -43069 Simple 397516248 T . Likely pathogenic 3 6 Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;Cardiomyopathy;not provided;Left ventricular noncompaction cardiomyopathy 2016-12-15 24.9 1.6666666666666667 Pathogenic 2 -43071 Simple 142844109 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-10 -4.5 4.0 Likely benign 0 -43072 Simple 3729831 A . Likely benign 2 8 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-07-31 -22.8 1.375 Benign/Likely benign 1 -43073 Simple 143362532 T . Uncertain significance 2 4 not specified;not provided;Hypertrophic cardiomyopathy 2017-07-27 -1.05 1.75 Uncertain significance 0 -43074 Simple 377473156 T . Likely benign 2 2 not specified 2015-07-23 -4.2 6.0 Likely benign 0 -43076 Simple 45520836 T . Uncertain significance 3 3 not specified 2016-12-15 -0.9 1.0 Uncertain significance 0 -43082 Simple 187073962 G . Uncertain significance 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -22.02 1.5454545454545454 Benign/Likely benign 3 -43085 Simple 397516253 G . Likely pathogenic 3 2 Primary dilated cardiomyopathy 2016-12-15 5.4 2.5 Likely pathogenic 0 -43086 Simple 200728597 A . Benign 3 3 not specified;Hypertrophic cardiomyopathy 2016-12-15 -18.0 1.0 Benign/Likely benign 1 -43088 Simple 397516254 T . Likely pathogenic 3 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1S;Myopathy, distal, 1 2016-12-15 8.7 1.5 Pathogenic/Likely pathogenic 1 -43089 Simple 397516255 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2013-05-24 -0.36 5.0 Uncertain significance 0 -43090 Simple 397516256 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-03-10 -0.51 2.0 Uncertain significance 0 -43092 Simple 2069541 C . Benign 3 12 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -45.9 1.9166666666666667 Benign 0 -43093 Simple 397516258 G . Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-04-19 5.1 2.0 Likely pathogenic 0 -43096 Simple 397516261 T . Uncertain significance 2 2 not specified 2017-05-08 -0.54 1.5 Uncertain significance 0 -43097 Simple 397516262 G . Uncertain significance 2 2 not specified 2016-01-04 -0.42000000000000004 4.0 Uncertain significance 0 -43099 Simple 397516263 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-08-01 -0.87 1.0 Uncertain significance 0 -43103 Simple 2069542 A . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -58.8 2.5454545454545454 Benign 0 -43106 Simple 397516269 G . Pathogenic 3 3 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided 2016-12-15 16.8 1.6666666666666667 Pathogenic 0 -43107 Simple 369286647 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-04-11 -5.4 1.5 Likely benign 0 -43109 Simple 397516271 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-01-01 -0.48 3.0 Uncertain significance 0 -43113 Simple 368699342 A . Benign/Likely benign 2 4 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-07-28 -12.9 3.0 Benign/Likely benign 0 -43115 Simple 397516275 G . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-05-31 -1.05 2.0 Uncertain significance 0 -43116 Simple 2231124 A . Benign 3 10 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-12-15 -39.0 1.9 Benign 0 -43117 Simple 372731424 G . Uncertain significance 2 5 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2016-09-13 -1.29 2.4 Uncertain significance 0 -43124 Simple 143852164 A . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2016-04-30 -0.5700000000000001 1.5 Uncertain significance 0 -43125 Simple 201780962 T . Benign/Likely benign 2 2 not specified 2012-04-11 -4.8 5.5 Likely benign 1 -43126 Simple 367761724 T . Likely benign 2 2 not specified 2016-03-15 -5.7 1.5 Likely benign 0 -43128 Simple 145520567 T . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy 2017-07-25 -1.05 2.0 Uncertain significance 0 -43129 Simple 2233264 A . Benign/Likely benign 2 4 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-07-31 -17.4 3.5 Benign/Likely benign 0 -43130 Simple 147584015 G . Benign/Likely benign 2 4 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-04 -15.0 2.25 Benign/Likely benign 0 -43131 Simple 377026344 A . Uncertain significance 2 2 not specified 2013-10-25 -0.39 4.5 Uncertain significance 0 -43134 Simple 45629132 A . Likely benign 2 2 not specified 2016-03-02 -5.4 2.0 Likely benign 0 -43141 Simple 111033221 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.6 3.0 Benign/Likely benign 0 -43142 Simple 2276278 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.6 3.4 Benign/Likely benign 0 -43147 Simple 201332147 A . Likely benign 2 2 not specified 2016-02-05 -5.4 2.0 Likely benign 0 -43153 Simple 111033228 T . Benign/Likely benign 2 6 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -22.8 2.1666666666666665 Benign/Likely benign 0 -43161 Simple 35429535 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -14.4 2.4 Benign/Likely benign 0 -43169 Simple 111033201 T . Pathogenic/Likely pathogenic 2 4 Deafness, autosomal recessive 2;Usher syndrome, type 1;not provided;Usher syndrome 2017-11-06 16.2 1.5 Pathogenic 1 -43170 Simple 35641839 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -43175 Simple 111033290 A . Likely pathogenic 2 2 Usher syndrome, type 1;not provided 2017-11-10 4.5 5.0 Likely pathogenic 0 -43180 Simple 201203036 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.17 1.25 Uncertain significance 0 -43183 Simple 148343670 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.3 2.0 Benign/Likely benign 0 -43185 Simple 140559111 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.05 2.5 Uncertain significance 0 -43186 Simple 111033437 A . Uncertain significance 2 2 not specified 2015-03-20 -0.48 3.0 Uncertain significance 0 -43188 Simple 78072361 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -16.8 2.4 Benign/Likely benign 0 -43189 Simple 1052032 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.05 2.25 Uncertain significance 0 -43192 Simple 111033471 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -43193 Simple 199575418 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.05 2.5 Uncertain significance 0 -43194 Simple 200641606 C . Uncertain significance 2 2 not specified 2014-12-19 -0.48 3.0 Uncertain significance 0 -43195 Simple 56023295 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -16.2 3.4 Benign/Likely benign 0 -43199 Simple 111033507 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-10-10 -15.0 2.0 Benign/Likely benign 0 -43200 Simple 35963362 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.75 Benign/Likely benign 0 -43201 Simple 116892396 T . Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -10.5 2.5 Benign/Likely benign 1 -43203 Simple 397516299 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.08 2.0 Uncertain significance 0 -43205 Simple 376688581 A . Uncertain significance 2 2 not specified 2016-01-08 -0.51 2.5 Uncertain significance 0 -43206 Simple 199897298 T . Likely pathogenic 2 2 Usher syndrome, type 1;not provided 2017-05-03 5.7 1.0 Likely pathogenic 0 -43207 Simple 111033223 . . Benign 2 2 not specified 2015-09-19 -9.0 3.5 Benign/Likely benign 1 -43218 Simple 111033178 A . Pathogenic/Likely pathogenic 2 3 Usher syndrome, type 1;not provided;Usher syndrome 2017-02-28 12.0 3.0 Pathogenic/Likely pathogenic 0 -43220 Simple 111033391 A . Uncertain significance 2 2 not specified 2017-07-28 -0.54 1.5 Uncertain significance 0 -43223 Simple 111033347 - . Pathogenic/Likely pathogenic 2 3 Deafness, autosomal recessive 2;Usher syndrome, type 1;Usher syndrome 2016-11-02 9.0 2.6666666666666665 Pathogenic/Likely pathogenic 0 -43224 Simple 41298131 C . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.14 1.5 Uncertain significance 0 -43225 Simple 78871677 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-23 -18.0 2.2 Benign/Likely benign 0 -43226 Simple 2276285 T . Benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -21.0 2.75 Benign/Likely benign 1 -43231 Simple 73495790 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.5 Benign/Likely benign 0 -43233 Simple 78996818 T . Benign/Likely benign 2 6 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -22.2 2.5 Benign/Likely benign 0 -43242 Simple 56174006 T . Benign/Likely benign 2 6 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -20.4 2.8333333333333335 Benign/Likely benign 0 -43245 Simple 111033259 CA . Pathogenic/Likely pathogenic 2 2 Usher syndrome, type 1 2016-02-01 5.7 4.0 Likely pathogenic 1 -43246 Simple 72933642 G . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -43248 Simple 111033183 T . Benign/Likely benign 2 6 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-28 -22.8 2.3333333333333335 Benign/Likely benign 0 -43250 Simple 111033511 T . Uncertain significance 2 2 not specified 2017-01-05 -0.44999999999999996 3.5 Uncertain significance 0 -43251 Simple 41298745 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -43252 Simple 12420129 T . Benign/Likely benign 2 6 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -20.4 3.3333333333333335 Benign/Likely benign 0 -43254 Simple 41298747 T . Benign/Likely benign 2 6 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2017-08-30 -20.4 2.0 Benign/Likely benign 0 -43255 Simple 200207753 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -43257 Simple 7927472 T . Benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -25.8 3.2 Benign 0 -43258 Simple 1052030 C . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -25.8 3.4 Benign 1 -43264 Simple 111033174 T . Pathogenic 2 2 Usher syndrome, type 1;not provided 2017-01-25 9.6 3.0 Pathogenic/Likely pathogenic 1 -43265 Simple 80033599 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -43268 Simple 181573957 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -18.0 2.0 Benign/Likely benign 0 -43269 Simple 2276288 T . Benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -25.8 3.2 Benign 0 -43272 Simple 34477144 A . Benign/Likely benign 2 2 not specified 2016-03-24 -7.2 2.5 Likely benign 1 -43274 Simple 77625410 G . Benign/Likely benign 2 7 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2017-02-17 -27.0 2.7142857142857144 Benign 1 -43276 Simple 111033477 A . Benign/Likely benign 2 6 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -20.1 2.1666666666666665 Benign/Likely benign 0 -43277 Simple 370062187 A . Likely benign 2 2 not specified 2016-11-09 -4.8 3.0 Likely benign 0 -43279 Simple 114157944 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -43282 Simple 397516317 T . Pathogenic 2 2 Usher syndrome, type 1;not provided 2016-05-17 9.0 4.0 Pathogenic/Likely pathogenic 1 -43283 Simple 113075052 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -43290 Simple 111033504 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-10-10 -15.0 2.0 Benign/Likely benign 0 -43293 Simple 45450893 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -16.2 3.0 Benign/Likely benign 0 -43294 Simple 111033215 A . Pathogenic/Likely pathogenic 2 2 Usher syndrome, type 1;not provided 2016-01-25 8.100000000000001 2.0 Likely pathogenic 1 -43296 Simple 2276293 G . Benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -21.0 3.25 Benign/Likely benign 1 -43297 Simple 2276291 C . Benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -21.0 2.75 Benign/Likely benign 1 -43300 Simple 111033192 T . Pathogenic/Likely pathogenic 2 2 Usher syndrome, type 1;MYO7A-Related Disorders 2016-06-14 6.0 4.5 Likely pathogenic 1 -43302 Simple 111033476 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -18.0 2.0 Benign/Likely benign 0 -43303 Simple 1320703 T . Benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -25.8 3.2 Benign 0 -43304 Simple 948962 A . Benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -25.8 3.4 Benign 0 -43305 Simple 142293185 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -17.4 2.2 Benign/Likely benign 0 -43307 Simple 762666 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.75 Benign/Likely benign 0 -43315 Simple 1320702 A . Benign 2 1 not specified 2009-06-23 . 8.0 . 0 -43316 Simple 112564978 C . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -43317 Simple 111033209 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -16.2 2.8 Benign/Likely benign 0 -43322 Simple 200313391 A . Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2017-04-11 -13.5 2.0 Benign/Likely benign 1 -43323 Simple 41298757 T . Benign/Likely benign 2 6 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-08-25 -22.2 3.0 Benign/Likely benign 0 -43324 Simple 11237123 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-08-25 -18.0 2.8 Benign/Likely benign 0 -43327 Simple 111033283 A . Pathogenic 2 3 Deafness, autosomal dominant 11;Deafness, autosomal recessive 2;Usher syndrome, type 1 2017-05-18 13.8 3.0 Pathogenic/Likely pathogenic 1 -43328 Simple 1132036 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.75 Benign/Likely benign 0 -43331 Simple 111033230 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -16.2 3.0 Benign/Likely benign 0 -43332 Simple 883224 A . Benign 2 1 not specified 2009-06-23 . 8.0 . 0 -43334 Simple 34517202 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -17.4 2.2 Benign/Likely benign 0 -43338 Simple 111033231 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -17.4 2.4 Benign/Likely benign 0 -43342 Simple 111033503 TGCCCACATTTTTGCCCACATTTT . Benign 2 2 not specified;not provided 2015-08-26 -10.8 2.0 Benign/Likely benign 1 -43343 Simple 762667 C . Benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -25.8 3.2 Benign 0 -43344 Simple 35689081 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -43345 Simple 111033285 G . Pathogenic 2 2 Usher syndrome, type 1;not provided 2016-10-19 9.6 3.0 Pathogenic/Likely pathogenic 1 -43355 Simple 200757725 C . Benign/Likely benign 2 2 not specified 2013-05-20 -6.0 4.5 Likely benign 1 -43356 Simple 375159661 T . Uncertain significance 2 2 not specified 2016-06-01 -0.48 3.0 Uncertain significance 0 -43362 Simple 73617692 T . Benign/Likely benign 2 8 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -22.8 2.75 Benign/Likely benign 0 -43364 Simple 3729710 T . Benign/Likely benign 2 8 Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2017-08-08 -28.5 2.5 Benign 1 -43366 Simple 3729711 A . Benign/Likely benign 2 5 Primary ciliary dyskinesia;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-15 -20.4 2.8 Benign/Likely benign 0 -43369 Simple 397516343 A . Likely benign 2 2 not specified 2017-03-30 -4.8 2.5 Likely benign 0 -43370 Simple 202086705 A . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-04-21 -13.5 2.0 Benign/Likely benign 0 -43371 Simple 3729836 T . Benign/Likely benign 2 7 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -24.6 3.0 Benign 1 -43375 Simple 184709702 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-09-10 -0.51 2.5 Uncertain significance 0 -43379 Simple 373130533 T . Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-01-31 -7.5 3.0 Likely benign 0 -43381 Simple 397516347 T . Pathogenic/Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-09-15 13.8 1.5 Pathogenic/Likely pathogenic 0 -43384 Simple 397516349 T . Pathogenic/Likely pathogenic 2 6 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-09-29 24.3 2.0 Pathogenic 1 -43388 Simple 397516353 A . Pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;Familial hypertrophic cardiomyopathy 7;not provided;Hypertrophic cardiomyopathy 2017-11-08 27.6 1.4 Pathogenic 0 -43389 Simple 397516354 T . Pathogenic/Likely pathogenic 2 6 Dilated cardiomyopathy 2A;Familial restrictive cardiomyopathy 1;Dilated cardiomyopathy 1FF;Primary familial hypertrophic cardiomyopathy;Familial hypertrophic cardiomyopathy 7;not provided;Hypertrophic cardiomyopathy 2017-07-05 28.2 1.5 Pathogenic 1 -43391 Simple 3729841 T . Benign/Likely benign 2 5 Primary ciliary dyskinesia;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-01-30 -20.4 4.0 Benign/Likely benign 0 -43392 Simple 397516355 T . Pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2014-09-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -43395 Simple 397516357 T . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-08-17 15.0 2.0 Pathogenic 0 -43396 Simple 397516358 G . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2015-11-12 -0.45 3.5 Uncertain significance 0 -43399 Simple 397516361 T . Benign/Likely benign 2 2 not specified 2014-09-22 -6.3 5.5 Likely benign 1 -43400 Simple 200153031 AA . Benign/Likely benign 2 2 not specified;Cardiomyopathy 2015-08-27 -7.800000000000001 2.5 Likely benign 1 -43401 Simple 115805892 C . Benign 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-08-04 -9.0 3.0 Benign/Likely benign 1 -43403 Simple 104894501 T . Uncertain significance 2 2 not specified 2013-09-27 -0.39 4.5 Uncertain significance 0 -43405 Simple 17850194 T . Benign/Likely benign 2 5 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-07-25 -21.0 2.0 Benign/Likely benign 0 -43412 Simple 397516367 A . Uncertain significance 2 2 not specified 2015-02-05 -0.39 5.0 Uncertain significance 0 -43414 Simple 397516369 G . Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2016-12-09 4.8 3.0 Likely pathogenic 0 -43416 Simple 377061868 C . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-24 -4.8 2.5 Likely benign 0 -43420 Simple 397516373 A . Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-06-07 4.5 3.0 Likely pathogenic 0 -43424 Simple 397516376 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-06-28 -0.87 1.0 Uncertain significance 0 -43425 Simple 199476313 C . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-31 -4.5 5.0 Likely benign 0 -43430 Simple 144700226 G . Benign 2 2 not specified 2015-05-20 -10.2 2.5 Benign/Likely benign 1 -43443 Simple 397516391 A . Uncertain significance 2 2 not specified 2014-09-19 -0.42 4.0 Uncertain significance 0 -43444 Simple 397516391 C . Uncertain significance 2 3 not specified 2016-09-08 -0.72 3.0 Uncertain significance 0 -43445 Simple 199476320 G . Uncertain significance 2 2 not specified 2012-07-13 -0.32999999999999996 6.5 Uncertain significance 0 -43448 Simple 397516394 G . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-06-27 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -43452 Simple 143948820 - . Benign 2 2 not specified 2016-06-27 -10.2 2.5 Benign/Likely benign 1 -43454 Simple 267607159 A . Uncertain significance 2 4 Amyloidogenic transthyretin amyloidosis;not specified 2017-07-19 -1.08 1.5 Uncertain significance 0 -43457 Simple 199474808 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 10;not specified 2017-05-16 -4.8 2.5 Likely benign 0 -43460 Simple 368851472 A . Benign/Likely benign 2 2 Familial hypertrophic cardiomyopathy 10;not specified 2017-05-12 -7.8 2.5 Likely benign 1 -43468 Simple 199742269 T . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 10;not specified 2016-06-13 -12.3 4.666666666666667 Benign/Likely benign 0 -43469 Simple 199572927 T . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 10;not specified 2017-08-18 -8.7 4.666666666666667 Benign/Likely benign 0 -43472 Simple 139794370 A . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 10;not specified 2017-06-19 -11.1 1.6666666666666667 Benign/Likely benign 0 -43473 Simple 375667565 A . Uncertain significance 2 3 Cardiomyopathy;not specified 2016-10-05 -0.75 2.6666666666666665 Uncertain significance 0 -43474 Simple 12301951 A . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-06-14 -6.0 3.5 Likely benign 1 -43476 Simple 374328118 C . Likely benign 2 2 Familial hypertrophic cardiomyopathy 10;not specified 2016-10-26 -4.8 3.0 Likely benign 0 -43477 Simple 397516405 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 10;not specified 2017-07-28 -4.8 2.5 Likely benign 0 -43478 Simple 149078011 G . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 10;not specified 2017-08-08 -0.51 2.0 Uncertain significance 0 -43487 Simple 17154282 G . Benign/Likely benign 2 3 Pendred's syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -43489 Simple 10234822 C . Benign 2 1 not specified;not provided 2016-07-08 . 1.0 . 0 -43492 Simple 111033243 C . Likely benign 2 2 not specified 2016-03-21 -5.7 1.5 Likely benign 0 -43494 Simple 397516413 - . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-06-04 6.0 4.0 Likely pathogenic 1 -43496 Simple 111033305 A . Pathogenic 2 5 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not specified;not provided 2017-07-01 28.2 1.4 Pathogenic 0 -43498 Simple 111033220 T . Pathogenic 2 4 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2017-07-01 21.6 1.25 Pathogenic 0 -43500 Simple 111033311 C . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2015-01-08 5.4 6.0 Likely pathogenic 1 -43501 Simple 111033306 - . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2015-10-26 7.800000000000001 2.5 Likely pathogenic 1 -43504 Simple 397516416 T . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2014-03-27 5.4 4.5 Likely pathogenic 1 -43507 Simple 375576481 T . Benign 2 3 not specified;not provided 2017-01-24 -16.2 2.0 Benign/Likely benign 1 -43508 Simple 397516418 G . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-04-13 6.6 3.0 Likely pathogenic 1 -43509 Simple 77407094 T . Benign/Likely benign 2 2 Pendred's syndrome;not specified 2014-10-17 -6.0 4.0 Likely benign 1 -43510 Simple 111033308 A . Pathogenic/Likely pathogenic 2 3 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2017-03-30 11.4 3.0 Pathogenic/Likely pathogenic 0 -43511 Simple 111033316 G . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not specified;not provided 2017-03-02 12.0 1.0 Pathogenic/Likely pathogenic 0 -43513 Simple 77944876 G . Benign 2 3 not specified 2016-04-07 -14.4 3.0 Benign/Likely benign 1 -43516 Simple 111033312 A . Pathogenic 2 3 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2017-07-01 16.8 1.3333333333333333 Pathogenic 0 -43518 Simple 397516420 C . Pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2016-03-29 9.6 3.0 Pathogenic/Likely pathogenic 1 -43522 Simple 111033200 G . Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-01-08 4.2 6.0 Likely pathogenic 0 -43524 Simple 111033423 T . Likely benign 2 2 Pendred's syndrome;not specified 2014-10-17 -3.9 4.5 Uncertain significance 2 -43525 Simple 55638457 C . Benign/Likely benign 2 4 not specified;not provided 2016-09-15 -19.2 1.75 Benign/Likely benign 0 -43526 Simple 17154335 G . Benign/Likely benign 2 5 Pendred's syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2017-11-02 -18.0 2.4 Benign/Likely benign 0 -43531 Simple 111033240 G . Likely benign 2 2 not specified 2017-01-10 -5.7 1.5 Likely benign 0 -43540 Simple 143708308 G . Benign/Likely benign 2 2 not specified 2016-05-31 -6.6 3.0 Likely benign 1 -43543 Simple 142723249 T . Likely benign 2 2 not specified 2015-08-25 -4.5 3.5 Likely benign 0 -43544 Simple 17154353 A . Benign/Likely benign 2 3 Pendred's syndrome;not specified 2016-09-14 -11.4 3.6666666666666665 Benign/Likely benign 0 -43546 Simple 150597240 T . Uncertain significance 2 3 Pendred's syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.78 2.3333333333333335 Uncertain significance 0 -43551 Simple 111033241 - . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-11-04 8.4 1.5 Pathogenic/Likely pathogenic 0 -43560 Simple 35045430 T . Benign 2 2 not specified 2016-05-05 -9.0 3.5 Benign/Likely benign 1 -43563 Simple 397516430 A . Pathogenic/Likely pathogenic 2 3 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-09-20 11.4 3.6666666666666665 Pathogenic/Likely pathogenic 0 -43566 Simple 111033256 A . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-07-15 8.4 2.0 Pathogenic/Likely pathogenic 0 -43567 Simple 397516432 C . Pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not specified 2016-11-23 9.0 4.0 Pathogenic/Likely pathogenic 1 -43570 Simple 111033304 C . Benign/Likely benign 2 2 Pendred's syndrome;not specified 2015-05-14 -7.800000000000001 2.5 Likely benign 1 -43574 Simple 36039758 T . Benign/Likely benign 2 3 Pendred's syndrome;not specified 2016-08-03 -11.4 3.3333333333333335 Benign/Likely benign 0 -43577 Simple 1042077 G . Benign/Likely benign 2 4 Cystic fibrosis;not specified 2016-10-10 -18.6 2.0 Benign/Likely benign 0 -43579 Simple 1805171 - . Benign 2 2 not specified 2016-10-10 -11.4 1.5 Benign/Likely benign 1 -43582 Simple 2071307 A . Benign 2 3 not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -43583 Simple 61734583 G . Likely benign 2 3 not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2016-06-14 -7.5 2.6666666666666665 Likely benign 0 -43584 Simple 41350445 T . Benign/Likely benign 2 4 Supravalvar aortic stenosis;not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2017-07-11 -13.8 1.75 Benign/Likely benign 0 -43585 Simple 41511151 A . Likely benign 2 5 Supravalvar aortic stenosis;not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2017-05-17 -13.8 1.4 Benign/Likely benign 1 -43586 Simple 397516433 G . Pathogenic 2 2 Supravalvar aortic stenosis;not provided 2016-02-24 8.4 4.0 Pathogenic/Likely pathogenic 1 -43589 Simple 397516435 A . Pathogenic 2 6 Li-Fraumeni syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-11 33.0 1.6666666666666667 Pathogenic 0 -43590 Simple 397516436 A . Pathogenic 2 4 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 22.2 1.25 Pathogenic 0 -43591 Simple 1800372 C . Benign/Likely benign 2 8 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -42.0 1.5 Benign 1 -43595 Simple 397516439 C . Pathogenic/Likely pathogenic 2 2 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-15 9.0 0.5 Pathogenic/Likely pathogenic 0 -43596 Simple 61751580 G . Benign/Likely benign 2 4 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -14.7 3.25 Benign/Likely benign 0 -43600 Simple 397516441 G . Pathogenic/Likely pathogenic 2 2 Von Hippel-Lindau syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-28 9.0 0.0 Pathogenic/Likely pathogenic 0 -43603 Simple 5030817 A . Pathogenic 2 2 Von Hippel-Lindau syndrome 2015-05-26 8.4 4.5 Pathogenic/Likely pathogenic 1 -43607 Simple 1800793 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -43609 Simple 5745635 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -43611 Simple 5745687 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Mixed 2016-08-16 -12.6 2.3333333333333335 Benign/Likely benign 0 -43613 Simple 45580032 T . Benign/Likely benign 2 6 Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -17.7 2.1666666666666665 Benign/Likely benign 0 -43615 Simple 141837529 C . Likely benign 2 2 not specified 2015-11-03 -5.1 2.5 Likely benign 0 -43616 Simple 397516449 G . Uncertain significance 2 5 Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.41 1.6 Uncertain significance 0 -43617 Simple 3729845 T . Benign/Likely benign 2 7 Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -24.0 3.0 Benign 1 -43620 Simple 397516451 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2015-09-26 -0.42000000000000004 4.5 Uncertain significance 0 -43627 Simple 397516456 A . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided 2017-08-23 24.900000000000002 1.6 Pathogenic 1 -43628 Simple 397516457 T . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided 2017-05-11 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -43632 Simple 3729547 A . Benign/Likely benign 2 7 Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -24.0 3.0 Benign 1 -43636 Simple 397516463 A . Pathogenic/Likely pathogenic 2 4 Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided;Cardiovascular phenotype 2017-07-11 17.1 1.25 Pathogenic 1 -43637 Simple 397516464 T . Pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-09-13 10.8 1.5 Pathogenic/Likely pathogenic 1 -43641 Simple 35914325 G . Benign/Likely benign 2 8 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-27 -28.2 2.375 Benign 1 -43648 Simple 397516470 - . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy 2017-06-08 12.9 2.6666666666666665 Pathogenic/Likely pathogenic 0 -43649 Simple 397516471 T . Likely pathogenic 2 3 Primary dilated cardiomyopathy;Left ventricular noncompaction 6;not provided 2016-10-03 7.8 2.3333333333333335 Likely pathogenic 0 -43652 Simple 45533739 - . Benign/Likely benign 2 7 Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -24.0 3.142857142857143 Benign 1 -43654 Simple 201270895 G . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.36 5.5 Uncertain significance 0 -43655 Simple 397516474 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2016-04-06 -5.1 2.5 Likely benign 0 -43657 Simple 397516475 A . Uncertain significance 2 5 Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.3499999999999999 2.2 Uncertain significance 0 -43659 Simple 45578238 - . Pathogenic 2 5 Primary dilated cardiomyopathy;Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Primary familial hypertrophic cardiomyopathy;not provided;Cardiovascular phenotype 2017-10-18 27.6 1.2 Pathogenic 0 -43660 Simple 397516477 C . Likely benign 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-08-11 -5.7 1.0 Likely benign 0 -43662 Simple 397516479 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 1;not specified 2015-06-04 -0.48 3.0 Uncertain significance 0 -43668 Simple 397516481 A . Likely benign 2 3 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-07-31 -7.5 3.3333333333333335 Likely benign 0 -43669 Simple 3730238 C . Benign/Likely benign 2 9 Primary familial hypertrophic cardiomyopathy;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -31.8 3.3333333333333335 Benign 1 -43670 Simple 397516482 A . Uncertain significance 2 2 not specified 2017-08-09 -0.44999999999999996 3.0 Uncertain significance 0 -43671 Simple 397516483 C . Uncertain significance 2 2 not specified 2014-09-26 -0.44999999999999996 3.5 Uncertain significance 0 -43678 Simple 397516485 C . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-10 -4.8 2.5 Likely benign 0 -43689 Simple 149757320 T . Benign/Likely benign 2 2 not specified 2015-09-22 -6.9 4.5 Likely benign 1 -43693 Simple 7133258 C . Benign 2 2 not specified 2013-06-24 -7.800000000000001 4.5 Likely benign 2 -43697 Simple 397516497 A . Uncertain significance 2 2 not specified 2014-08-19 -0.44999999999999996 3.5 Uncertain significance 0 -43698 Simple 72751287 G . Benign/Likely benign 2 5 Catecholaminergic polymorphic ventricular tachycardia type 1;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-10-12 -20.4 2.0 Benign/Likely benign 0 -43699 Simple 2797441 T . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -19.8 2.4 Benign/Likely benign 0 -43702 Simple 2685301 T . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -19.2 2.6 Benign/Likely benign 0 -43710 Simple 368844286 T . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-05-26 -16.2 1.75 Benign/Likely benign 0 -43711 Simple 192323827 T . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -43712 Simple 397516505 T . Benign/Likely benign 2 2 not specified 2015-12-04 -6.9 4.0 Likely benign 1 -43715 Simple 78939657 T . Benign/Likely benign 2 6 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-15 -25.8 2.0 Benign 1 -43716 Simple 790889 C . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -43717 Simple 56226196 T . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-08 -20.4 2.0 Benign/Likely benign 0 -43718 Simple 375021201 A . Uncertain significance 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-10-20 -1.08 1.75 Uncertain significance 0 -43720 Simple 397516508 C . Likely pathogenic 2 2 not provided;Catecholaminergic polymorphic ventricular tachycardia 2013-12-27 4.2 4.0 Likely pathogenic 0 -43722 Simple 201829896 T . Likely benign 2 3 not specified;not provided 2017-10-06 -6.9 3.0 Likely benign 0 -43723 Simple 369917806 A . Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-28 -7.8 2.0 Likely benign 0 -43727 Simple 57360419 T . Benign 2 3 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-07-27 -15.0 2.3333333333333335 Benign/Likely benign 1 -43728 Simple 3765097 T . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -18.6 2.8 Benign/Likely benign 0 -43730 Simple 115854664 A . Benign/Likely benign 2 7 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-10 -30.6 2.142857142857143 Benign 1 -43731 Simple 790901 G . Benign/Likely benign 2 5 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -16.8 3.4 Benign/Likely benign 0 -43732 Simple 790900 C . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -43733 Simple 78369334 A . Benign/Likely benign 2 6 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-21 -25.2 2.1666666666666665 Benign 1 -43737 Simple 55683196 - . Benign/Likely benign 2 2 not specified 2012-04-18 -5.1 5.5 Likely benign 1 -43740 Simple 41267519 G . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -43741 Simple 397516515 G . Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-17 -7.5 2.3333333333333335 Likely benign 0 -43742 Simple 75206601 T . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-21 -21.0 1.8 Benign/Likely benign 0 -43746 Simple 114303476 T . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-14 -20.4 2.0 Benign/Likely benign 0 -43747 Simple 369442980 T . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2015-12-12 -0.75 2.6666666666666665 Uncertain significance 0 -43749 Simple 397516519 - . Benign/Likely benign 2 2 not specified 2012-04-07 -5.1 5.5 Likely benign 1 -43750 Simple 16835270 A . Benign/Likely benign 2 6 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-21 -24.6 2.3333333333333335 Benign 1 -43751 Simple 146129084 C . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-04-12 -10.5 1.6666666666666667 Benign/Likely benign 0 -43752 Simple 2045955 C . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -43753 Simple 72549414 T . Benign/Likely benign 2 7 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-21 -28.2 2.7142857142857144 Benign 1 -43755 Simple 116098815 G . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-09 -20.4 2.0 Benign/Likely benign 0 -43756 Simple 376225470 A . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-05 -13.5 1.6666666666666667 Benign/Likely benign 0 -43758 Simple 78165942 T . Benign/Likely benign 2 5 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-26 -19.2 2.4 Benign/Likely benign 0 -43759 Simple 371157868 T . Uncertain significance 2 2 not specified 2017-01-09 -0.5700000000000001 1.5 Uncertain significance 0 -43763 Simple 2253273 G . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -19.2 2.6 Benign/Likely benign 0 -43764 Simple 138064129 C . Benign/Likely benign 2 5 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-26 -22.2 1.4 Benign/Likely benign 0 -43765 Simple 79457258 A . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-01-31 -0.72 3.0 Uncertain significance 0 -43770 Simple 72549415 T . Benign/Likely benign 2 6 not specified;not provided;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-08-18 -27.0 2.5 Benign 1 -43774 Simple 397516527 T . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-11-08 -0.72 3.0 Uncertain significance 0 -43775 Simple 185715460 A . Uncertain significance 2 3 not specified 2016-11-10 -0.81 2.0 Uncertain significance 0 -43777 Simple 143603583 G . Benign 2 3 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-06-27 -15.6 2.0 Benign/Likely benign 1 -43778 Simple 199821105 T . Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-01-07 -10.5 2.25 Benign/Likely benign 1 -43782 Simple 56229512 G . Benign/Likely benign 2 6 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-17 -24.6 2.3333333333333335 Benign 1 -43786 Simple 3841805 - . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -43787 Simple 201916326 A . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-05-04 -23.4 1.0 Benign/Likely benign 0 -43789 Simple 397516534 CC . Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-10-11 -7.8 2.3333333333333335 Likely benign 0 -43790 Simple 10925391 C . Benign/Likely benign 2 5 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -18.0 3.0 Benign/Likely benign 0 -43791 Simple 7546045 T . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -43792 Simple 7522981 C . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-08 -21.0 1.8 Benign/Likely benign 0 -43795 Simple 79811945 A . Benign/Likely benign 2 6 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-31 -26.4 1.8333333333333333 Benign 1 -43797 Simple 147060179 T . Benign/Likely benign 2 5 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-27 -20.4 2.0 Benign/Likely benign 0 -43798 Simple 397516537 C . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-09-26 -9.6 3.0 Benign/Likely benign 0 -43800 Simple 114534505 A . Benign/Likely benign 2 6 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-06-27 -24.0 2.5 Benign 1 -43801 Simple 397516539 A . Pathogenic/Likely pathogenic 2 2 not provided;Catecholaminergic polymorphic ventricular tachycardia 2014-12-12 6.9 3.5 Likely pathogenic 1 -43802 Simple 397516540 T . Benign/Likely benign 2 3 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2016-09-02 -10.5 2.6666666666666665 Benign/Likely benign 0 -43805 Simple 3820216 G . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-15 -21.0 1.8 Benign/Likely benign 0 -43810 Simple 10925392 C . Benign/Likely benign 2 5 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-07 -19.2 2.4 Benign/Likely benign 0 -43816 Simple 1759122 T . Benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-02 -18.0 3.25 Benign/Likely benign 1 -43817 Simple 10754602 A . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -43819 Simple 707189 C . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -19.2 2.6 Benign/Likely benign 0 -43820 Simple 79862521 A . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-04 -21.0 1.8 Benign/Likely benign 0 -43821 Simple 116601686 C . Benign/Likely benign 2 6 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-04 -24.0 2.5 Benign 1 -43824 Simple 397516549 TT . Benign/Likely benign 2 2 not specified 2014-04-30 -6.6 4.0 Likely benign 1 -43827 Simple 684923 T . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -19.2 2.6 Benign/Likely benign 0 -43829 Simple 376788358 G . Uncertain significance 2 2 not specified 2017-03-09 -0.44999999999999996 3.0 Uncertain significance 0 -43832 Simple 148246251 GG . Benign/Likely benign 2 6 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-15 -22.8 2.8333333333333335 Benign/Likely benign 0 -43833 Simple 144876996 T . Benign/Likely benign 2 6 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-08 -25.2 2.1666666666666665 Benign 1 -43834 Simple 16835237 C . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -43836 Simple 2797436 G . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -19.2 2.6 Benign/Likely benign 0 -43837 Simple 60777199 A . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-05 -15.0 2.0 Benign/Likely benign 0 -43839 Simple 371931287 C . Benign/Likely benign 2 3 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-07-03 -10.5 2.3333333333333335 Benign/Likely benign 0 -43840 Simple 184218219 G . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-09-18 -13.8 1.5 Benign/Likely benign 0 -43841 Simple 190537182 A . Benign/Likely benign 2 5 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-18 -18.6 2.6 Benign/Likely benign 0 -43843 Simple 299099 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -43847 Simple 1185246 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -43848 Simple 12484441 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -43850 Simple 144634857 A . Benign/Likely benign 2 3 not specified 2016-03-01 -9.0 3.0 Benign/Likely benign 0 -43851 Simple 7284476 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -43853 Simple 191589773 T . Likely benign 2 2 not specified 2016-03-16 -4.8 3.0 Likely benign 0 -43854 Simple 8140207 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -43855 Simple 8140958 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -43856 Simple 28450766 T . Benign 2 2 not specified 2015-07-22 -9.0 3.5 Benign/Likely benign 1 -43860 Simple 56016429 G . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -43861 Simple 34655947 - . Benign 2 1 not specified 2012-11-20 . 5.0 . 0 -43862 Simple 11704996 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -43866 Simple 4821708 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -43867 Simple 61737841 C . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -43870 Simple 17304212 G . Benign 2 1 not specified 2011-04-26 . 6.0 . 0 -43871 Simple 17304212 T . Benign 2 1 not specified 2011-04-26 . 6.0 . 0 -43872 Simple 200502817 G . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2017-02-24 -0.87 1.3333333333333333 Uncertain significance 0 -43873 Simple 79399438 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -43875 Simple 113445294 A . Benign/Likely benign 2 5 Myofibrillar myopathy, ZASP-related;not specified;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -15.0 2.0 Benign/Likely benign 0 -43879 Simple 76615432 C . Benign/Likely benign 2 7 Myofibrillar myopathy, ZASP-related;not specified;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-11 -27.0 1.4285714285714286 Benign 1 -43882 Simple 397516559 - . Benign/Likely benign 2 2 not specified 2015-07-14 -6.9 4.0 Likely benign 1 -43883 Simple 71019410 - . Likely benign 2 2 not specified 2016-04-29 -4.5 3.5 Likely benign 0 -43884 Simple 144445130 A . Benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-07-10 -16.2 1.6666666666666667 Benign/Likely benign 1 -43886 Simple 57655409 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -43887 Simple 78136490 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -43888 Simple 10213360 C . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -43890 Simple 55868272 T . Benign/Likely benign 2 4 Supravalvar aortic stenosis;not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2017-07-26 -15.0 2.0 Benign/Likely benign 0 -43893 Simple 1150181 T . Uncertain significance 2 2 not specified 2017-07-10 -0.51 2.0 Uncertain significance 0 -43899 Simple 35956798 A . Benign/Likely benign 2 6 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-07 -24.0 3.0 Benign 1 -43902 Simple 34785693 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2017-08-10 -16.5 2.75 Benign/Likely benign 0 -43908 Simple 80257412 A . Benign/Likely benign 2 7 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-27 -28.8 2.5714285714285716 Benign 1 -43910 Simple 397516569 T . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2016-08-16 -4.8 3.0 Likely benign 0 -43912 Simple 368107695 T . Benign 2 2 not specified 2013-12-31 -7.800000000000001 4.5 Likely benign 2 -43914 Simple 142142718 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-01-11 -0.44999999999999996 4.0 Uncertain significance 0 -43915 Simple 35997569 G . Benign/Likely benign 2 8 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-26 -34.2 2.875 Benign 1 -43916 Simple 397516571 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-03-21 -0.48 2.5 Uncertain significance 0 -43920 Simple 146164600 A . Uncertain significance 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-08-03 -0.75 2.3333333333333335 Uncertain significance 0 -43921 Simple 144680712 A . Benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-06-28 -14.4 2.6666666666666665 Benign/Likely benign 1 -43922 Simple 397516572 G . Uncertain significance 2 2 not specified 2014-07-09 -0.44999999999999996 3.5 Uncertain significance 0 -43923 Simple 202135204 T . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2015-10-28 -4.5 3.5 Likely benign 0 -43924 Simple 144122893 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2017-07-24 -16.8 2.5 Benign/Likely benign 0 -43926 Simple 370677725 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2016-07-15 -0.5700000000000001 1.5 Uncertain significance 0 -43927 Simple 200469353 A . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-02-23 -0.48 3.0 Uncertain significance 0 -43928 Simple 397516574 T . Uncertain significance 2 2 not specified 2017-09-08 -0.44999999999999996 3.0 Uncertain significance 0 -43929 Simple 397516575 T . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2016-01-25 -4.5 3.5 Likely benign 0 -43930 Simple 397516576 T . Likely benign 2 2 not specified 2016-11-28 -4.8 3.0 Likely benign 0 -43933 Simple 12063382 A . Benign/Likely benign 2 5 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -18.0 3.4 Benign/Likely benign 0 -43935 Simple 397516578 T . Likely benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-08-11 -7.5 2.3333333333333335 Likely benign 0 -43940 Simple 141219516 T . Benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-05-20 -13.8 3.0 Benign/Likely benign 1 -43942 Simple 139489232 A . Uncertain significance 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-09-18 -0.84 1.0 Uncertain significance 0 -43943 Simple 2288599 C . Benign/Likely benign 2 6 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-27 -24.6 2.6666666666666665 Benign 1 -43948 Simple 116464082 A . Benign 2 4 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2017-07-27 -18.6 3.0 Benign/Likely benign 1 -43950 Simple 2288601 G . Benign/Likely benign 2 4 not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -12.6 3.25 Benign/Likely benign 0 -43952 Simple 145411160 T . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-05-18 -4.5 4.0 Likely benign 0 -43956 Simple 3827478 C . Benign/Likely benign 2 3 Danon disease;not specified;Hypertrophic cardiomyopathy 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -43960 Simple 139459217 C . Likely benign 2 2 not specified 2016-03-08 -5.4 2.0 Likely benign 0 -43968 Simple 373230569 G . Benign 2 2 not specified 2014-09-26 -7.8 4.5 Likely benign 2 -43972 Simple 397516594 T . Likely benign 2 2 Dilated cardiomyopathy 1DD;not specified 2016-05-28 -4.8 3.0 Likely benign 0 -43974 Simple 376936285 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1DD;not specified 2017-06-14 -9.0 3.0 Benign/Likely benign 0 -43975 Simple 7077757 T . Benign/Likely benign 2 3 not specified;Dilated Cardiomyopathy, Dominant 2016-06-14 -9.6 4.0 Benign/Likely benign 0 -43977 Simple 12572941 C . Benign/Likely benign 2 3 not specified;Dilated Cardiomyopathy, Dominant 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -43979 Simple 138436392 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype 2017-06-23 -22.8 2.4 Benign/Likely benign 0 -43981 Simple 74339620 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-27 -22.8 2.2 Benign/Likely benign 0 -43984 Simple 397516599 T . Uncertain significance 2 2 not specified 2016-09-09 -0.54 2.0 Uncertain significance 0 -43986 Simple 375798246 A . Uncertain significance 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1DD;not specified 2017-06-14 -0.87 1.0 Uncertain significance 0 -43988 Simple 1417635 T . Benign 2 4 Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype 2017-08-02 -20.4 2.25 Benign/Likely benign 1 -43991 Simple 376071070 A . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2016-03-10 -0.5700000000000001 1.5 Uncertain significance 0 -43996 Simple 397516605 C . Likely benign 2 2 not specified;Cardiovascular phenotype 2015-12-11 -4.5 3.5 Likely benign 0 -43997 Simple 397516606 C . Uncertain significance 2 3 Dilated cardiomyopathy 1DD;not specified 2016-10-10 -0.78 2.3333333333333335 Uncertain significance 0 -43999 Simple 397516608 G . Uncertain significance 2 2 Cardiomyopathy;not specified 2017-08-07 -0.48 2.5 Uncertain significance 0 -44003 Simple 75858380 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-27 -22.8 2.2 Benign/Likely benign 0 -44004 Simple 188054898 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1DD;not specified;Dilated Cardiomyopathy, Dominant 2017-07-28 -24.0 1.8 Benign 1 -44009 Simple 116908219 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype 2017-06-20 -14.7 0.75 Benign/Likely benign 0 -44012 Simple 7070640 C . Benign/Likely benign 2 3 not specified;Dilated Cardiomyopathy, Dominant 2016-06-14 -9.6 4.0 Benign/Likely benign 0 -44016 Simple 942077 C . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -15.0 3.5 Benign/Likely benign 0 -44020 Simple 7908490 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-10 -22.2 2.4 Benign/Likely benign 0 -44022 Simple 397516622 A . Uncertain significance 2 4 Dilated cardiomyopathy 1DD;not specified;Dilated Cardiomyopathy, Dominant 2017-09-15 -1.05 1.75 Uncertain significance 0 -44023 Simple 183130427 G . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2017-07-27 -0.48 2.5 Uncertain significance 0 -44025 Simple 61735268 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-04 -22.2 2.4 Benign/Likely benign 0 -44028 Simple 201148126 A . Uncertain significance 2 6 Dilated cardiomyopathy 1DD;not specified;Dilated Cardiomyopathy, Dominant 2017-08-03 -1.74 0.8333333333333334 Uncertain significance 0 -44029 Simple 35141404 A . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-16 -21.0 3.0 Benign/Likely benign 0 -44030 Simple 397516625 A . Uncertain significance 2 2 not specified 2014-03-04 -0.39 4.5 Uncertain significance 0 -44032 Simple 201855435 C . Uncertain significance 2 2 not specified 2017-03-13 -0.48 2.5 Uncertain significance 0 -44037 Simple 139441645 T . Benign 2 2 not specified 2016-02-11 -9.0 3.5 Benign/Likely benign 1 -44040 Simple 61741195 A . Benign 2 2 not specified 2014-12-16 -8.4 4.0 Benign/Likely benign 1 -44042 Simple 12272086 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -44043 Simple 34498817 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44044 Simple 11666328 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44046 Simple 61734424 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44049 Simple 73061136 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44050 Simple 61731838 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44051 Simple 77895476 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44052 Simple 181055215 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -44055 Simple 378811 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44056 Simple 1651553 G . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44057 Simple 12981413 T . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44059 Simple 200351672 A . Benign/Likely benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -44060 Simple 3745503 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44061 Simple 138987081 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -44062 Simple 3745504 A . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44063 Simple 930086 C . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44065 Simple 8106196 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -44066 Simple 78192108 T . Benign/Likely benign 2 3 Deafness, autosomal dominant 4;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -44067 Simple 76579307 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -44068 Simple 11669191 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -44070 Simple 680446 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44071 Simple 34796700 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44072 Simple 45591233 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44073 Simple 34773557 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44075 Simple 3745509 A . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44076 Simple 190695624 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44077 Simple 200878464 A . Uncertain significance 2 2 not specified;not provided 2016-08-31 -0.51 2.5 Uncertain significance 0 -44078 Simple 73932457 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44079 Simple 4801822 A . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44081 Simple 590722 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44082 Simple 41309506 C . Benign 2 2 not specified 2014-03-03 -7.800000000000001 4.5 Likely benign 2 -44083 Simple 113831133 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -44084 Simple 219779 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -44087 Simple 117560775 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -44088 Simple 219780 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -44090 Simple 17062695 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44091 Simple 2309428 A . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44092 Simple 41277901 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44094 Simple 12340440 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44095 Simple 34774441 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44096 Simple 111723895 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44097 Simple 72709079 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44098 Simple 11788754 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44099 Simple 111595785 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44100 Simple 41305539 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -44102 Simple 374523970 T . Likely benign 2 1 not specified 2012-04-30 . 5.0 . 0 -44105 Simple 2282336 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44106 Simple 2095876 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44107 Simple 140442228 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44111 Simple 10823829 C . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -18.6 2.8 Benign/Likely benign 0 -44112 Simple 74608315 A . Benign 2 3 not specified 2014-11-07 -13.2 3.6666666666666665 Benign/Likely benign 1 -44113 Simple 7903475 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -44114 Simple 143282422 A . Benign/Likely benign 2 4 not specified;not provided 2017-09-07 -14.4 2.0 Benign/Likely benign 0 -44116 Simple 115745871 T . Benign/Likely benign 2 2 not specified 2016-04-11 -6.6 3.0 Likely benign 1 -44119 Simple 112571971 T . Likely benign 2 3 not specified 2016-08-19 -7.5 2.6666666666666665 Likely benign 0 -44120 Simple 34693310 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44122 Simple 34616847 C . Benign 2 1 not specified 2013-02-19 . 5.0 . 0 -44123 Simple 143414291 A . Benign 2 2 not specified 2015-01-23 -8.4 4.0 Benign/Likely benign 1 -44124 Simple 807022 G . Benign 2 2 not specified 2014-07-02 -8.4 4.0 Benign/Likely benign 1 -44125 Simple 397516634 . . Likely benign 2 2 not specified 2015-02-20 -4.5 3.5 Likely benign 0 -44126 Simple 200896335 GCTGCGGCTGCG . Benign 2 3 not specified 2015-02-05 -13.2 3.6666666666666665 Benign/Likely benign 1 -44127 Simple 111287837 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44129 Simple 807023 G . Benign 2 2 not specified 2014-07-02 -8.4 4.0 Benign/Likely benign 1 -44132 Simple 2295769 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44135 Simple 2236277 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44137 Simple 16832645 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44139 Simple 34883204 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44140 Simple 34284625 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44141 Simple 2877561 C . Benign 2 2 not specified 2014-07-02 -8.4 4.0 Benign/Likely benign 1 -44142 Simple 142243054 T . Benign/Likely benign 2 2 not specified 2014-11-21 -8.4 4.0 Benign/Likely benign 0 -44145 Simple 3915061 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44146 Simple 11549220 T . Benign 2 3 not specified 2015-11-09 -12.600000000000001 4.0 Benign/Likely benign 1 -44147 Simple 9910792 T . Benign 2 3 not specified 2016-03-07 -15.0 2.6666666666666665 Benign/Likely benign 1 -44148 Simple 11549222 A . Benign/Likely benign 2 2 Deafness, autosomal dominant 20;not specified;Baraitser-Winter Syndrome 2 2017-05-10 -9.6 2.5 Benign/Likely benign 0 -44149 Simple 143851458 G . Benign/Likely benign 2 3 not specified 2017-05-10 -11.7 1.0 Benign/Likely benign 0 -44150 Simple 1139405 A . Benign/Likely benign 2 3 not specified 2016-11-10 -15.0 2.6666666666666665 Benign/Likely benign 0 -44151 Simple 1135989 A . Benign/Likely benign 2 2 not specified 2015-10-28 -9.0 3.5 Benign/Likely benign 0 -44152 Simple 28730712 G . Benign/Likely benign 2 5 Neural tube defect;Caudal dysgenesis syndrome;not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-02 -18.6 1.6 Benign/Likely benign 0 -44153 Simple 77775029 A . Benign/Likely benign 2 5 Neural tube defect;Caudal dysgenesis syndrome;not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-02 -18.6 1.6 Benign/Likely benign 0 -44155 Simple 72554069 - . Uncertain significance 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-10-29 -1.1099999999999999 1.75 Uncertain significance 0 -44157 Simple 7413162 A . Benign/Likely benign 2 7 Neural tube defect;Caudal dysgenesis syndrome;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 -27.0 2.4285714285714284 Benign 1 -44159 Simple 28730711 G . Benign/Likely benign 2 5 Neural tube defect;Caudal dysgenesis syndrome;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 -17.4 2.2 Benign/Likely benign 0 -44160 Simple 4074536 C . Benign 2 4 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 -18.6 3.25 Benign/Likely benign 1 -44162 Simple 10801999 T . Benign/Likely benign 2 6 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-08-02 -25.2 3.0 Benign 1 -44163 Simple 9428083 G . Benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 -9.0 3.5 Benign/Likely benign 1 -44166 Simple 199939582 A . Likely benign 2 2 not specified 2016-05-09 -4.8 3.0 Likely benign 0 -44167 Simple 146333579 C . Uncertain significance 2 4 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-08-08 -1.05 1.75 Uncertain significance 0 -44171 Simple 397516644 A . Uncertain significance 2 2 not specified;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.51 2.5 Uncertain significance 0 -44172 Simple 8059269 T . Benign/Likely benign 2 2 not specified;Dilated Cardiomyopathy, Dominant 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -44177 Simple 2234933 A . Uncertain significance 2 3 Primary familial hypertrophic cardiomyopathy;not specified;Dilated Cardiomyopathy, Dominant 2016-11-16 -0.75 2.6666666666666665 Uncertain significance 0 -44178 Simple 397516648 T . Likely benign 2 2 not specified;Dilated Cardiomyopathy, Dominant 2017-06-22 -4.8 2.5 Likely benign 0 -44185 Simple 397516654 C . Pathogenic/Likely pathogenic 2 2 Hypohidrotic X-linked ectodermal dysplasia;Tooth agenesis, selective, X-linked, 1 2017-07-18 7.5 3.0 Likely pathogenic 1 -44190 Simple 397516659 C . Pathogenic 2 2 not provided;Hypohidrotic ectodermal dysplasia 2017-09-21 9.0 3.0 Pathogenic/Likely pathogenic 1 -44193 Simple 397516662 T . Pathogenic 2 2 not provided;Hypohidrotic ectodermal dysplasia 2016-06-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -44200 Simple 397516668 . . Pathogenic 2 2 not provided;Hypohidrotic ectodermal dysplasia 2016-05-19 9.6 3.0 Pathogenic/Likely pathogenic 1 -44202 Simple 397516670 . . Pathogenic 2 3 Hypohidrotic X-linked ectodermal dysplasia;not provided;Hypohidrotic ectodermal dysplasia 2017-06-22 15.0 2.3333333333333335 Pathogenic 0 -44204 Simple 10579679 - . Benign 2 2 not specified 2015-11-24 -8.4 4.0 Benign/Likely benign 1 -44205 Simple 397516672 T . Pathogenic 2 2 not provided;Hypohidrotic ectodermal dysplasia 2015-04-22 10.8 2.0 Pathogenic/Likely pathogenic 1 -44207 Simple 2296765 T . Benign 2 1 not specified 2011-07-22 . 6.0 . 0 -44211 Simple 397516677 A . Pathogenic 2 2 not provided;Hypohidrotic ectodermal dysplasia 2016-04-04 10.2 2.5 Pathogenic/Likely pathogenic 1 -44219 Simple 397516685 T . Pathogenic/Likely pathogenic 2 2 Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection;not provided 2017-11-06 9.0 0.0 Pathogenic/Likely pathogenic 0 -44220 Simple 77794859 A . Benign/Likely benign 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -44221 Simple 45498896 A . Benign/Likely benign 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -44222 Simple 2072462 T . Benign 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44223 Simple 78140305 G . Benign/Likely benign 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -44225 Simple 2266918 T . Benign 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44227 Simple 17853498 C . Benign 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44228 Simple 11681642 C . Benign 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44229 Simple 114234874 A . Benign/Likely benign 2 3 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -44230 Simple 116139984 T . Benign/Likely benign 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -44231 Simple 17720303 T . Benign 2 3 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44233 Simple 2228387 T . Benign 2 7 Alpha-B crystallinopathy;not specified;Dilated cardiomyopathy 1II;Posterior polar cataract;Cardiovascular phenotype;Myofibrillar Myopathy, Dominant 2017-08-08 -37.2 2.0 Benign 0 -44234 Simple 11603779 C . Benign 2 7 Alpha-B crystallinopathy;not specified;Posterior polar cataract;Cardiovascular phenotype;Myofibrillar Myopathy, Dominant 2017-07-21 -37.2 2.0 Benign 0 -44237 Simple 226045 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44239 Simple 4252582 A . Benign 2 6 Alpha-B crystallinopathy;not specified;Dilated cardiomyopathy 1II;Posterior polar cataract;Myofibrillar Myopathy, Dominant 2017-07-28 -33.0 1.6666666666666667 Benign 0 -44240 Simple 226052 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44241 Simple 14122 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -44242 Simple 12920 C . Benign 2 9 Myofibrillar myopathy 1;not specified;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-12 -46.8 2.6666666666666665 Benign 0 -44243 Simple 61731508 T . Benign/Likely benign 2 7 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-01 -26.4 1.7142857142857142 Benign 1 -44245 Simple 1058284 A . Benign 2 9 Myofibrillar myopathy 1;not specified;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-12 -48.0 2.4444444444444446 Benign 0 -44246 Simple 368901105 A . Benign 2 4 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-07-19 -19.8 2.5 Benign/Likely benign 1 -44252 Simple 73991549 A . Benign/Likely benign 2 10 Myofibrillar myopathy 1;not specified;not provided;Muscular dystrophy, limb-girdle, type 2r;Dilated cardiomyopathy;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-07 -41.4 1.9 Benign 1 -44254 Simple 372825868 T . Uncertain significance 2 5 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-07-11 -1.41 1.2 Uncertain significance 0 -44256 Simple 397516692 A . Uncertain significance 2 4 Dilated cardiomyopathy 1I;Dilated cardiomyopathy 1F;Myofibrillar myopathy 1;Scapuloperoneal syndrome, neurogenic, Kaeser type;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-07-05 -1.1099999999999999 1.25 Uncertain significance 0 -44258 Simple 34365369 A . Benign/Likely benign 2 9 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-07 -48.0 2.111111111111111 Benign 1 -44260 Simple 62636495 T . Pathogenic 2 4 Primary dilated cardiomyopathy;Myofibrillar myopathy 1;not provided 2015-07-22 17.4 3.75 Pathogenic 0 -44261 Simple 397516695 A . Uncertain significance 2 3 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-05-02 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -44262 Simple 111828114 T . Benign/Likely benign 2 9 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-09 -48.6 2.0 Benign 1 -44263 Simple 111548596 A . Benign 2 6 Myofibrillar myopathy 1;not specified;Scapuloperoneal weakness;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -31.2 2.3333333333333335 Benign 0 -44268 Simple 397516698 A . Pathogenic/Likely pathogenic 2 3 Dilated cardiomyopathy 1I;Myofibrillar myopathy 1 2016-06-23 14.1 2.0 Pathogenic/Likely pathogenic 0 -44270 Simple 147327878 T . Uncertain significance 2 4 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-04-27 -1.08 1.75 Uncertain significance 0 -44271 Simple 150370918 T . Benign/Likely benign 2 8 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-31 -33.6 1.375 Benign 1 -44272 Simple 1058261 T . Benign 2 9 Myofibrillar myopathy 1;not specified;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-12 -46.8 2.6666666666666665 Benign 0 -44273 Simple 397516699 - . Benign/Likely benign 2 6 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-05-31 -23.4 1.0 Benign/Likely benign 0 -44274 Simple 34337334 A . Uncertain significance 2 5 Myofibrillar myopathy 1;not specified;not provided;Muscular dystrophy, limb-girdle, type 2r;Cardiovascular phenotype 2017-08-02 -1.41 1.4 Uncertain significance 0 -44277 Simple 139326669 G . Benign/Likely benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype 2017-07-11 -15.3 2.5 Benign/Likely benign 0 -44284 Simple 140850369 T . Benign/Likely benign 2 2 not specified 2014-05-29 -6.6 4.0 Likely benign 1 -44286 Simple 397516703 - . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2014-09-15 7.199999999999999 3.0 Likely pathogenic 1 -44288 Simple 368257724 A . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.39 4.5 Uncertain significance 0 -44289 Simple 202057770 T . Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2016-04-05 -7.5 2.6666666666666665 Likely benign 0 -44290 Simple 35743180 C . Benign/Likely benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-06-19 -17.7 2.25 Benign/Likely benign 0 -44295 Simple 79241126 A . Benign/Likely benign 2 6 Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -25.200000000000003 3.1666666666666665 Benign 1 -44296 Simple 80073511 T . Benign/Likely benign 2 7 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2017-08-15 -28.2 2.142857142857143 Benign 1 -44297 Simple 74578148 T . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-06-08 -13.2 3.3333333333333335 Benign/Likely benign 1 -44300 Simple 2278792 A . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2016-06-14 -18.6 3.6 Benign/Likely benign 0 -44302 Simple 1042769 G . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2016-06-14 -18.6 3.6 Benign/Likely benign 0 -44303 Simple 78310842 C . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-06-08 -13.2 3.3333333333333335 Benign/Likely benign 1 -44304 Simple 16962093 C . Benign/Likely benign 2 6 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2017-07-14 -23.4 2.6666666666666665 Benign/Likely benign 0 -44305 Simple 180695545 T . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2016-10-26 -12.6 3.0 Benign/Likely benign 0 -44306 Simple 2230232 G . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-08-05 -13.8 3.0 Benign/Likely benign 1 -44308 Simple 79229040 G . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-06-08 -11.7 3.3333333333333335 Benign/Likely benign 0 -44312 Simple 11542379 T . Benign/Likely benign 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2017-08-05 -20.4 2.6 Benign/Likely benign 0 -44315 Simple 1791235 C . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2016-06-14 -14.4 3.5 Benign/Likely benign 0 -44316 Simple 373542380 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -44318 Simple 372174546 A . Uncertain significance 2 6 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype 2017-06-05 -1.68 1.3333333333333333 Uncertain significance 0 -44319 Simple 191143292 G . Benign/Likely benign 2 8 Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular dysplasia, familial 1;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype 2017-08-01 -29.400000000000002 2.625 Benign 1 -44321 Simple 397516709 C . Pathogenic/Likely pathogenic 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular cardiomyopathy;not provided;Cardiovascular phenotype 2017-05-17 19.5 1.5 Pathogenic 1 -44322 Simple 11876289 A . Benign/Likely benign 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2017-08-15 -19.8 2.2 Benign/Likely benign 0 -44329 Simple 2230233 T . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2016-06-14 -14.4 3.5 Benign/Likely benign 0 -44330 Simple 185821167 A . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-11-06 -0.87 0.6666666666666666 Uncertain significance 0 -44331 Simple 2230234 G . Benign/Likely benign 2 6 not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2016-06-14 -24.0 3.3333333333333335 Benign 1 -44333 Simple 3729855 T . Benign 2 2 not specified;Atrioventricular septal defect 4 2017-07-31 -9.0 3.0 Benign/Likely benign 1 -44335 Simple 55788387 A . Benign/Likely benign 2 2 not specified;Atrioventricular septal defect 4 2017-08-01 -7.5 3.0 Likely benign 1 -44339 Simple 73538515 C . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-07-26 -13.8 3.0 Benign/Likely benign 1 -44341 Simple 369658574 T . Uncertain significance 2 2 not specified 2015-05-01 -0.51 2.5 Uncertain significance 0 -44342 Simple 3752580 A . Benign 2 2 not specified;Dilated cardiomyopathy 1JJ 2017-06-19 -9.6 2.5 Benign/Likely benign 1 -44343 Simple 6917763 A . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-08-03 -13.2 3.3333333333333335 Benign/Likely benign 1 -44348 Simple 1050348 G . Benign 2 3 not specified 2013-11-22 -11.4 4.666666666666667 Benign/Likely benign 1 -44349 Simple 138153075 A . Likely benign 2 4 not specified;not provided;Dilated cardiomyopathy 1JJ 2017-08-28 -10.8 1.5 Benign/Likely benign 1 -44350 Simple 150809897 T . Likely benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2016-10-18 -7.2 3.0 Likely benign 0 -44351 Simple 3752577 G . Benign 2 2 not specified 2013-11-20 -7.2 5.0 Likely benign 2 -44354 Simple 78871662 G . Benign 2 2 not specified 2014-03-10 -7.8 4.5 Likely benign 2 -44356 Simple 144850734 A . Benign/Likely benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2016-10-25 -13.5 2.0 Benign/Likely benign 0 -44357 Simple 397516720 A . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2014-09-29 -0.44999999999999996 3.5 Uncertain significance 0 -44359 Simple 397516722 A . Likely benign 2 2 not specified 2015-11-03 -4.5 3.5 Likely benign 0 -44362 Simple 77901141 A . Benign/Likely benign 2 2 not specified 2017-10-27 -6.6 2.5 Likely benign 1 -44366 Simple 35605307 C . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 1JJ;Cardiovascular phenotype 2017-06-27 -18.0 2.5 Benign/Likely benign 0 -44367 Simple 397516726 A . Likely benign 2 2 not specified;Dilated cardiomyopathy 1JJ 2016-06-21 -4.8 3.0 Likely benign 0 -44368 Simple 35349917 T . Benign 2 4 not specified;Dilated cardiomyopathy 1JJ 2017-07-26 -17.4 3.5 Benign/Likely benign 1 -44370 Simple 145648026 T . Likely benign 2 2 not specified 2016-11-28 -4.8 3.0 Likely benign 0 -44371 Simple 200595773 T . Benign/Likely benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-09-25 -13.8 1.0 Benign/Likely benign 0 -44374 Simple 41289902 T . Benign 2 5 not specified;Dilated cardiomyopathy 1JJ 2017-08-08 -21.6 3.6 Benign/Likely benign 1 -44375 Simple 2032568 A . Benign 2 2 not specified 2013-11-22 -7.2 5.0 Likely benign 2 -44376 Simple 2032567 T . Benign 2 3 not specified 2013-11-22 -11.4 4.666666666666667 Benign/Likely benign 1 -44377 Simple 1050349 C . Benign 2 3 not specified 2013-11-22 -12.0 4.333333333333333 Benign/Likely benign 1 -44381 Simple 34753919 A . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-07-03 -14.4 2.6666666666666665 Benign/Likely benign 1 -44382 Simple 200189282 A . Uncertain significance 2 2 not specified;not provided 2016-03-02 -0.48 3.0 Uncertain significance 0 -44383 Simple 35042032 G . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-07-03 -14.4 2.6666666666666665 Benign/Likely benign 1 -44384 Simple 75058449 A . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-07-26 -14.4 2.6666666666666665 Benign/Likely benign 1 -44385 Simple 79008328 C . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-07-21 -13.8 3.0 Benign/Likely benign 1 -44386 Simple 116361180 A . Benign 2 2 not specified 2014-03-25 -8.4 4.0 Benign/Likely benign 1 -44387 Simple 77367833 G . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2016-11-03 -14.4 3.0 Benign/Likely benign 1 -44392 Simple 11757455 A . Benign 2 3 not specified 2013-12-10 -11.4 4.666666666666667 Benign/Likely benign 1 -44393 Simple 12110554 C . Benign 2 4 not specified;Dilated cardiomyopathy 1JJ 2017-07-10 -18.6 3.0 Benign/Likely benign 1 -44395 Simple 369887291 A . Likely benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-08-04 -8.4 1.3333333333333333 Benign/Likely benign 1 -44396 Simple 35679345 A . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-08-03 -13.2 3.3333333333333335 Benign/Likely benign 1 -44397 Simple 191447048 A . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 1JJ;Cardiovascular phenotype 2017-05-04 -14.4 1.0 Benign/Likely benign 0 -44398 Simple 397516733 A . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1JJ 2017-03-03 -0.54 2.0 Uncertain significance 0 -44400 Simple 148517180 T . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-07-28 -14.4 2.6666666666666665 Benign/Likely benign 1 -44401 Simple 1050353 T . Benign 2 2 not specified 2014-01-08 -7.800000000000001 4.5 Likely benign 2 -44403 Simple 202131320 C . Uncertain significance 2 3 not specified;not provided 2015-05-04 -0.69 3.3333333333333335 Uncertain significance 0 -44405 Simple 3734290 G . Benign 2 2 not specified 2014-01-08 -7.2 5.0 Likely benign 2 -44406 Simple 3734289 C . Benign 2 2 not specified 2013-11-22 -7.800000000000001 4.5 Likely benign 2 -44407 Simple 61742228 A . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-07-16 -13.2 3.3333333333333335 Benign/Likely benign 1 -44408 Simple 3734292 T . Benign 2 4 not specified;Dilated cardiomyopathy 1JJ 2017-08-11 -18.0 3.25 Benign/Likely benign 1 -44409 Simple 2072021 A . Benign 2 2 not specified 2013-11-20 -7.2 5.0 Likely benign 2 -44411 Simple 17073495 A . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-08-04 -14.4 2.6666666666666665 Benign/Likely benign 1 -44412 Simple 186498011 C . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-08-04 -15.6 2.0 Benign/Likely benign 1 -44413 Simple 143580603 G . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-07-09 -14.4 2.6666666666666665 Benign/Likely benign 1 -44416 Simple 12097 A . Benign/Likely benign 2 6 Danon disease;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-06-14 -22.8 3.8333333333333335 Benign/Likely benign 0 -44423 Simple 397516740 T . Pathogenic 2 2 Danon disease;not provided 2017-04-06 11.4 1.0 Pathogenic/Likely pathogenic 1 -44429 Simple 138374063 C . Uncertain significance 2 2 Danon disease;not specified 2017-06-16 -0.48 2.5 Uncertain significance 0 -44434 Simple 145169006 T . Benign/Likely benign 2 4 Danon disease;not specified 2017-08-09 -14.7 0.75 Benign/Likely benign 0 -44437 Simple 141541387 C . Benign/Likely benign 2 5 Danon disease;not specified;Cardiovascular phenotype 2017-07-24 -18.3 1.8 Benign/Likely benign 0 -44445 Simple 73219144 A . Benign/Likely benign 2 6 Danon disease;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-08 -26.4 1.8333333333333333 Benign 1 -44448 Simple 61742472 C . Benign/Likely benign 2 5 Familial hypertrophic cardiomyopathy 14;not specified 2017-07-13 -21.6 1.8 Benign/Likely benign 0 -44450 Simple 61742470 A . Benign/Likely benign 2 5 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-07-25 -18.0 1.8 Benign/Likely benign 0 -44451 Simple 61731179 A . Benign/Likely benign 2 6 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-09-27 -23.4 2.0 Benign/Likely benign 0 -44453 Simple 145447555 A . Benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-03-03 -9.6 3.0 Benign/Likely benign 1 -44455 Simple 28711516 T . Benign/Likely benign 2 8 Atrial septal defect;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-07-22 -32.4 2.375 Benign 1 -44459 Simple 146591697 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2016-09-01 -4.8 3.0 Likely benign 0 -44460 Simple 28730774 A . Benign/Likely benign 2 5 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-07-06 -20.1 2.4 Benign/Likely benign 0 -44461 Simple 76202964 A . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-07 -29.4 1.7142857142857142 Benign 1 -44464 Simple 200817451 G . Likely benign 2 2 not specified 2017-01-05 -4.8 3.0 Likely benign 0 -44467 Simple 115845031 T . Benign 2 5 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-06-23 -25.8 2.2 Benign 0 -44469 Simple 376682837 A . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 14;not specified 2017-07-11 -0.78 2.0 Uncertain significance 0 -44471 Simple 141704264 A . Benign/Likely benign 2 6 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-08-04 -24.0 1.6666666666666667 Benign 1 -44472 Simple 144907522 A . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 14;not specified 2017-06-27 -12.9 2.0 Benign/Likely benign 0 -44474 Simple 140596256 T . Uncertain significance 2 6 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.74 1.3333333333333333 Uncertain significance 0 -44475 Simple 145274612 T . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-18 -28.8 1.8571428571428572 Benign 1 -44476 Simple 368497504 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-07-11 -4.8 2.5 Likely benign 0 -44479 Simple 144957142 T . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 14;not specified 2017-06-23 -11.7 1.0 Benign/Likely benign 0 -44480 Simple 365990 G . Benign/Likely benign 2 6 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -21.6 2.5 Benign/Likely benign 0 -44482 Simple 376002621 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-04-06 -0.48 2.5 Uncertain significance 0 -44483 Simple 28730771 T . Benign/Likely benign 2 6 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -21.6 2.5 Benign/Likely benign 0 -44484 Simple 28730770 T . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-20 -29.4 1.7142857142857142 Benign 1 -44486 Simple 373345984 A . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-28 -29.4 1.7142857142857142 Benign 1 -44487 Simple 149369904 C . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-28 -30.0 1.5714285714285714 Benign 1 -44489 Simple 147871745 A . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-28 -30.0 1.5714285714285714 Benign 1 -44492 Simple 34935550 G . Benign/Likely benign 2 6 Familial hypertrophic cardiomyopathy 14;not specified;not provided;Cardiovascular phenotype 2017-07-13 -27.900000000000002 1.5 Benign 1 -44493 Simple 201804323 T . Likely benign 2 3 Familial hypertrophic cardiomyopathy 14;not specified 2017-06-19 -8.7 1.0 Benign/Likely benign 1 -44494 Simple 115742584 G . Benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-03-03 -9.6 3.0 Benign/Likely benign 1 -44495 Simple 17277970 T . Benign/Likely benign 2 6 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-10-03 -23.4 2.0 Benign/Likely benign 0 -44499 Simple 397516766 - . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-07-28 -31.2 1.2857142857142858 Benign 1 -44500 Simple 78891557 T . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-08 -30.0 1.5714285714285714 Benign 1 -44501 Simple 451794 T . Benign/Likely benign 2 5 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -17.4 2.2 Benign/Likely benign 0 -44504 Simple 2277474 T . Benign/Likely benign 2 6 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -21.6 2.5 Benign/Likely benign 0 -44506 Simple 111638554 A . Benign/Likely benign 2 6 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-07 -24.0 1.6666666666666667 Benign 1 -44507 Simple 2277473 T . Benign/Likely benign 2 5 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -18.0 2.0 Benign/Likely benign 0 -44510 Simple 8022522 A . Benign/Likely benign 2 4 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -44511 Simple 58949384 A . Benign/Likely benign 2 6 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-07-11 -24.0 1.6666666666666667 Benign 1 -44512 Simple 74039310 T . Benign 2 4 Familial hypertrophic cardiomyopathy 14;not specified 2017-06-23 -19.8 2.5 Benign/Likely benign 1 -44515 Simple 34855944 T . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-08 -30.0 1.5714285714285714 Benign 1 -44516 Simple 142539180 T . Benign/Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2016-06-20 -7.5 3.5 Likely benign 1 -44517 Simple 142983918 T . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-07-24 -4.8 2.5 Likely benign 0 -44519 Simple 200751434 C . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.39 4.5 Uncertain significance 0 -44520 Simple 45574136 A . Benign/Likely benign 2 8 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-08 -33.6 2.0 Benign 1 -44521 Simple 142823394 T . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-05-10 -12.3 2.3333333333333335 Benign/Likely benign 0 -44522 Simple 61742476 G . Benign/Likely benign 2 8 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-08 -33.6 2.0 Benign 1 -44523 Simple 397516772 C . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2016-09-23 -0.48 3.0 Uncertain significance 0 -44524 Simple 61742474 A . Benign 2 3 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-08-07 -15.0 2.3333333333333335 Benign/Likely benign 1 -44526 Simple 178640 G . Benign/Likely benign 2 6 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -22.8 2.1666666666666665 Benign/Likely benign 0 -44528 Simple 382872 A . Benign/Likely benign 2 5 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -17.4 2.2 Benign/Likely benign 0 -44529 Simple 77416370 T . Benign/Likely benign 2 4 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-05-23 -16.8 1.75 Benign/Likely benign 0 -44532 Simple 8004990 A . Benign/Likely benign 2 5 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -17.4 2.2 Benign/Likely benign 0 -44533 Simple 397516775 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-04-26 -0.44999999999999996 3.0 Uncertain significance 0 -44537 Simple 79143968 T . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-28 -30.0 1.5714285714285714 Benign 1 -44541 Simple 142027794 T . Benign/Likely benign 2 4 Familial hypertrophic cardiomyopathy 14;not specified 2017-06-27 -18.6 2.0 Benign/Likely benign 0 -44543 Simple 397516779 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2016-12-15 -4.5 3.5 Likely benign 0 -44544 Simple 434273 C . Benign/Likely benign 2 4 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -44546 Simple 17091623 T . Benign/Likely benign 2 7 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-08 -30.0 1.5714285714285714 Benign 1 -44548 Simple 56001030 A . Benign/Likely benign 2 4 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.0 2.25 Benign/Likely benign 0 -44549 Simple 145751072 A . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -44550 Simple 3752462 C . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44551 Simple 2413396 T . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44552 Simple 9622375 A . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -44553 Simple 8137674 G . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -44554 Simple 143801000 A . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -44555 Simple 9619601 G . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44556 Simple 41279999 G . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44558 Simple 875725 C . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44559 Simple 710181 C . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44560 Simple 113698937 A . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -44561 Simple 145429636 A . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44562 Simple 76368635 A . Benign/Likely benign 2 4 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -44563 Simple 11549907 A . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44565 Simple 2269530 A . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44566 Simple 5756130 T . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44569 Simple 145139708 C . Likely benign 2 4 not specified;not provided;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2017-06-14 -11.7 1.0 Benign/Likely benign 1 -44570 Simple 56327920 C . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -44571 Simple 141686520 - . Benign 2 4 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -44572 Simple 80050551 A . Benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -44573 Simple 140588099 T . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -44578 Simple 145623013 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1P;not specified 2017-06-27 -10.5 2.0 Benign/Likely benign 0 -44579 Simple 6885298 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44580 Simple 397516784 - . Pathogenic 2 5 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1P;Arrhythmogenic right ventricular cardiomyopathy, type 9;Cardiomyopathy;not provided;Cardiovascular phenotype 2017-08-25 27.6 1.2 Pathogenic 0 -44583 Simple 28994879 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -44586 Simple 397516788 - . Benign 3 6 Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-05-09 -19.5 1.5 Benign/Likely benign 1 -44588 Simple 397516791 G . Likely pathogenic 3 3 not specified;not provided;Cardio-facio-cutaneous syndrome 2017-05-09 6.12 2.0 Likely pathogenic 0 -44589 Simple 144166521 T . Benign 3 4 not specified;Rasopathy 2017-05-09 -19.2 1.75 Benign/Likely benign 1 -44590 Simple 148968935 T . Benign 3 3 not specified;Rasopathy 2017-05-09 -15.0 1.0 Benign/Likely benign 1 -44592 Simple 371652992 G . Benign 3 3 not specified;Rasopathy 2017-05-09 -15.6 2.6666666666666665 Benign/Likely benign 1 -44596 Simple 201247699 C . Uncertain significance 2 2 not specified 2016-02-20 -0.51 2.5 Uncertain significance 0 -44597 Simple 397516796 A . Uncertain significance 2 2 not specified;Rasopathy 2016-06-28 -0.44999999999999996 4.0 Uncertain significance 0 -44599 Simple 397516797 T . Likely benign 3 4 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;not specified;not provided;Rasopathy 2017-04-03 -3.9899999999999998 3.0 Uncertain significance 2 -44602 Simple 397516800 T . Benign/Likely benign 2 2 not specified;Rasopathy 2017-07-09 -8.4 1.0 Benign/Likely benign 0 -44603 Simple 397516801 G . Pathogenic/Likely pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-02-03 11.100000000000001 1.6666666666666667 Pathogenic/Likely pathogenic 0 -44608 Simple 372736227 G . Likely benign 3 6 Metachondromatosis;Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy 2017-04-18 -7.14 1.3333333333333333 Likely benign 0 -44613 Simple 397516809 T . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided 2015-09-29 7.800000000000001 2.5 Likely pathogenic 1 -44614 Simple 397507527 A . Likely pathogenic 2 2 Noonan syndrome;not provided 2016-11-21 5.7 1.5 Likely pathogenic 0 -44615 Simple 397516810 G . Pathogenic 2 2 Noonan syndrome;not provided 2017-02-02 9.0 3.5 Pathogenic/Likely pathogenic 1 -44623 Simple 3730297 A . Benign 3 5 not specified;Rasopathy;Cardiovascular phenotype 2017-04-18 -23.4 3.4 Benign/Likely benign 1 -44624 Simple 397516818 C . Uncertain significance 2 2 not specified 2016-02-01 -0.42000000000000004 5.0 Uncertain significance 0 -44625 Simple 202103447 AA . Benign/Likely benign 2 4 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy 2016-06-14 -16.2 1.75 Benign/Likely benign 0 -44629 Simple 397516823 G . Likely benign 2 2 not specified;Rasopathy 2017-03-23 -4.5 3.0 Likely benign 0 -44634 Simple 397516829 T . Pathogenic 2 2 Noonan syndrome;not provided 2017-03-03 10.8 2.0 Pathogenic/Likely pathogenic 1 -44641 Simple 2746462 T . Benign 2 7 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -37.2 2.0 Benign 0 -44642 Simple 397516833 G . Pathogenic/Likely pathogenic 2 6 Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-05-02 31.8 1.5 Pathogenic 1 -44646 Simple 397516836 T . Pathogenic/Likely pathogenic 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2016-12-15 7.8 3.0 Likely pathogenic 1 -44647 Simple 35215598 TGTG . Benign 2 8 Roussy-Lévy syndrome;Pheochromocytoma;Congenital hypomyelinating neuropathy;not specified;Hereditary cancer-predisposing syndrome;Charcot-Marie-Tooth, Type 1;Charcot-Marie-Tooth, Intermediate 2016-06-14 -45.6 1.5 Benign 0 -44648 Simple 693441 C . Benign 2 2 Pheochromocytoma;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44649 Simple 17113461 G . Benign 2 2 Pheochromocytoma;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44650 Simple 9919552 T . Benign/Likely benign 2 5 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;not specified;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-08-21 -26.4 2.0 Benign 1 -44652 Simple 2228048 T . Benign 2 6 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -29.4 3.5 Benign 0 -44658 Simple 11466512 A . Benign 2 7 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-08-15 -35.4 2.5714285714285716 Benign 0 -44661 Simple 2229102 G . Benign 2 7 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-05 -36.6 2.7142857142857144 Benign 0 -44662 Simple 11838270 G . Benign/Likely benign 2 6 Loeys-Dietz syndrome 2;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-08 -26.400000000000002 2.6666666666666665 Benign 1 -44663 Simple 80325832 G . Benign/Likely benign 2 6 Loeys-Dietz syndrome 2;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-06-23 -27.0 2.5 Benign 1 -44666 Simple 12316677 A . Benign/Likely benign 2 5 Loeys-Dietz syndrome 2;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-04 -22.8 2.2 Benign/Likely benign 0 -44667 Simple 17459334 G . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -20.400000000000002 3.2 Benign/Likely benign 0 -44669 Simple 138295270 A . Uncertain significance 2 4 not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.05 2.25 Uncertain significance 0 -44672 Simple 200016687 C . Likely benign 2 2 not specified 2016-12-27 -5.1 2.5 Likely benign 0 -44673 Simple 139700737 A . Likely benign 2 5 Loeys-Dietz syndrome 2;not specified;not provided;Cardiovascular phenotype 2017-08-14 -13.5 1.4 Benign/Likely benign 1 -44674 Simple 114074541 T . Benign 2 3 Loeys-Dietz syndrome 2;not specified 2017-05-07 -15.6 2.0 Benign/Likely benign 1 -44676 Simple 114939776 C . Benign/Likely benign 2 6 Loeys-Dietz syndrome 2;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-06-23 -27.0 2.5 Benign 1 -44678 Simple 145066209 G . Benign/Likely benign 2 2 not specified 2016-02-22 -7.5 3.0 Likely benign 1 -44681 Simple 397516847 A . Uncertain significance 2 2 not specified 2013-01-21 -0.36 5.0 Uncertain significance 0 -44683 Simple 397516849 T . Uncertain significance 2 2 not specified;not provided 2016-09-30 -0.5700000000000001 1.5 Uncertain significance 0 -44688 Simple 7124801 T . Benign/Likely benign 2 6 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-02 -24.0 3.0 Benign 1 -44691 Simple 397516854 C . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2015-07-23 -0.45 3.5 Uncertain significance 0 -44695 Simple 45582433 C . Benign/Likely benign 2 6 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-08 -24.6 2.6666666666666665 Benign 1 -44696 Simple 13451 T . Benign/Likely benign 2 6 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -24.0 3.3333333333333335 Benign 1 -44705 Simple 45458802 T . Benign 2 6 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2017-07-31 -28.2 3.0 Benign 0 -44706 Simple 45578741 T . Benign/Likely benign 2 9 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-08-08 -41.7 2.111111111111111 Benign 1 -44708 Simple 374886575 T . Uncertain significance 2 4 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified;not provided 2017-05-03 -1.02 2.25 Uncertain significance 0 -44709 Simple 1053651 C . Benign/Likely benign 2 8 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -30.6 2.75 Benign 1 -44711 Simple 397516863 A . Uncertain significance 2 2 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified 2017-07-31 -0.48 2.5 Uncertain significance 0 -44713 Simple 397516865 G . Uncertain significance 2 2 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified 2017-06-23 -0.48 2.5 Uncertain significance 0 -44716 Simple 111033460 T . Likely benign 2 7 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2017-05-09 -20.4 1.1428571428571428 Benign/Likely benign 1 -44717 Simple 9578260 A . Benign 2 10 Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;not provided;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-08-15 -54.6 1.9 Benign 0 -44718 Simple 397516866 T . Benign/Likely benign 2 1 not specified 2015-05-27 . 2.0 . 0 -44720 Simple 397516868 T . Likely benign 2 6 Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -44721 Simple 148136545 T . Benign/Likely benign 2 8 Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -29.4 1.75 Benign 1 -44725 Simple 111033297 A . Pathogenic 2 4 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;not specified 2017-05-18 21.0 1.75 Pathogenic 0 -44728 Simple 111033451 A . Likely pathogenic 2 2 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness 2015-01-21 3.9 5.5 Uncertain significance 2 -44732 Simple 111033218 C . Benign/Likely benign 2 8 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2017-05-09 -26.4 1.625 Benign 1 -44735 Simple 111033299 T . Pathogenic/Likely pathogenic 2 7 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, X-linked 2;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment;not provided 2017-05-18 28.5 2.2857142857142856 Pathogenic 1 -44736 Simple 111033204 - . Pathogenic 2 4 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;not provided 2016-05-13 18.6 4.5 Pathogenic 0 -44737 Simple 111033253 - . Pathogenic 2 9 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment;not provided 2017-06-12 48.0 1.7777777777777777 Pathogenic 0 -44738 Simple 397516873 . . Pathogenic/Likely pathogenic 2 4 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;not provided 2017-03-07 15.6 1.75 Pathogenic 1 -44742 Simple 111033295 A . Pathogenic/Likely pathogenic 2 6 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;Hearing impairment 2017-05-09 21.0 2.8333333333333335 Pathogenic 1 -44743 Simple 111033188 T . Benign/Likely benign 2 7 Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -19.5 1.7142857142857142 Benign/Likely benign 0 -44744 Simple 397516874 A . Pathogenic 2 2 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness 2014-03-27 7.8 5.0 Likely pathogenic 2 -44745 Simple 111033196 T . Benign/Likely benign 2 6 Deafness, autosomal recessive 1A;not specified;Nonsyndromic Hearing Loss, Dominant 2017-05-09 -28.2 2.3333333333333335 Benign 1 -44749 Simple 76434661 T . Pathogenic/Likely pathogenic 2 10 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, X-linked 2;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment;not provided 2017-05-18 40.8 1.6 Pathogenic 1 -44751 Simple 111033225 T . Uncertain significance 2 2 Deafness, autosomal recessive 1A;not specified 2017-05-09 -0.51 2.0 Uncertain significance 0 -44752 Simple 111033217 G . Pathogenic/Likely pathogenic 2 4 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;not provided 2017-05-09 15.6 1.75 Pathogenic 1 -44753 Simple 111033420 T . Likely pathogenic 2 2 Nonsyndromic hearing loss and deafness;not provided 2017-12-28 4.5 4.0 Likely pathogenic 0 -44754 Simple 111033186 T . Benign/Likely benign 2 7 Deafness, autosomal recessive 1A;not specified;Nonsyndromic Hearing Loss, Dominant 2017-05-09 -30.0 2.4285714285714284 Benign 1 -44761 Simple 111033335 GAATGTCATGAACACTG . Pathogenic 2 2 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness 2015-04-27 9.0 3.5 Pathogenic/Likely pathogenic 1 -44762 Simple 76838169 G . Benign 2 3 Deafness, autosomal recessive 1A;not specified;Nonsyndromic Hearing Loss, Recessive 2017-05-09 -15.6 2.0 Benign/Likely benign 1 -44763 Simple 111033294 C . Pathogenic 2 6 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, X-linked 2;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment 2017-06-16 31.2 2.0 Pathogenic 0 -44764 Simple 375599392 G . Uncertain significance 2 2 Deafness, autosomal recessive 1A;not specified 2017-05-09 -0.48 2.5 Uncertain significance 0 -44765 Simple 111033194 G . Uncertain significance 2 2 not specified 2016-12-20 -0.5700000000000001 1.5 Uncertain significance 0 -44766 Simple 111033190 T . Pathogenic 2 3 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness 2016-08-03 16.8 1.6666666666666667 Pathogenic 0 -44769 Simple 35562371 T . Benign 2 2 Dilated cardiomyopathy 1J;not specified 2017-08-04 -9.6 2.5 Benign/Likely benign 1 -44770 Simple 35863035 C . Benign 2 2 Dilated cardiomyopathy 1J;not specified 2017-08-04 -9.6 2.5 Benign/Likely benign 1 -44771 Simple 397516879 G . Likely benign 2 2 Dilated cardiomyopathy 1J;not specified 2015-10-21 -4.5 3.5 Likely benign 0 -44772 Simple 17854076 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1J;not specified;Cardiovascular phenotype 2017-06-19 -10.8 2.0 Benign/Likely benign 0 -44773 Simple 9493627 A . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -19.2 2.6 Benign/Likely benign 0 -44774 Simple 3858339 G . Benign 2 7 Myofibrillar myopathy, BAG3-related;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-06-02 -35.4 2.4285714285714284 Benign 0 -44776 Simple 3858340 T . Benign 2 8 Myofibrillar myopathy, BAG3-related;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-06-02 -39.6 2.625 Benign 0 -44777 Simple 196295 G . Benign 2 7 Myofibrillar myopathy, BAG3-related;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-06-02 -35.4 2.4285714285714284 Benign 0 -44780 Simple 35434411 A . Benign/Likely benign 2 9 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-07 -41.4 2.0 Benign 1 -44781 Simple 143752613 A . Benign/Likely benign 2 5 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-26 -21.0 1.8 Benign/Likely benign 0 -44783 Simple 2234962 C . Benign 2 7 not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -33.6 3.0 Benign 0 -44784 Simple 61756328 A . Benign/Likely benign 2 8 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-06-30 -27.6 1.375 Benign 1 -44785 Simple 139438727 GGCGGC . Benign/Likely benign 2 6 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-27 -25.2 2.1666666666666665 Benign 1 -44786 Simple 74157690 T . Benign/Likely benign 2 5 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-04 -20.4 2.0 Benign/Likely benign 0 -44788 Simple 143335467 C . Benign 3 5 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-18 -17.4 1.6 Benign/Likely benign 1 -44789 Simple 397516883 T . Uncertain significance 2 3 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Cardiovascular phenotype 2017-04-11 -0.78 2.0 Uncertain significance 0 -44791 Simple 140737221 G . Benign/Likely benign 2 3 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-04-03 -13.200000000000001 2.3333333333333335 Benign/Likely benign 0 -44794 Simple 397516885 T . Likely benign 2 2 not specified;Rasopathy 2016-09-04 -4.5 3.5 Likely benign 0 -44798 Simple 397516888 A . Likely benign 2 2 not specified 2016-06-08 -4.8 3.0 Likely benign 0 -44809 Simple 184144181 T . Benign/Likely benign 2 5 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Cardio-facio-cutaneous syndrome 2016-06-14 -15.6 2.2 Benign/Likely benign 0 -44811 Simple 397516895 T . Pathogenic/Likely pathogenic 2 2 not provided;Cardio-facio-cutaneous syndrome 2017-08-18 6.0 3.0 Likely pathogenic 1 -44821 Simple 397516899 - . Benign/Likely benign 2 6 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-07-11 -22.2 1.6666666666666667 Benign/Likely benign 0 -44825 Simple 201507202 C . Benign 3 7 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-18 -28.2 1.5714285714285714 Benign 0 -44826 Simple 61730029 G . Likely benign 3 2 not specified;Rasopathy 2017-04-18 -4.8 4.0 Likely benign 0 -44827 Simple 138333692 A . Benign 3 5 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-18 -17.4 1.6 Benign/Likely benign 1 -44831 Simple 397516904 G . Likely pathogenic 2 3 not provided;Cardio-facio-cutaneous syndrome 2016-06-14 8.1 2.0 Likely pathogenic 0 -44833 Simple 397516906 C . Likely benign 3 4 not specified;Rasopathy 2017-04-03 -8.1 1.75 Likely benign 0 -44834 Simple 397516907 A . Benign 3 3 not specified;Rasopathy 2017-04-03 -7.02 2.6666666666666665 Likely benign 2 -44837 Simple 2277923 C . Benign 2 4 not specified 2014-04-17 -16.2 4.25 Benign/Likely benign 1 -44838 Simple 397516910 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -44839 Simple 71535705 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -44840 Simple 17149912 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -44841 Simple 61731036 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -44842 Simple 754553 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -44843 Simple 754554 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -44844 Simple 876305 C . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -44845 Simple 754555 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -44846 Simple 11970787 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -44847 Simple 12540919 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -44848 Simple 55735863 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -6.6 3.0 Likely benign 1 -44850 Simple 11558732 A . Benign/Likely benign 2 8 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Cardiomyopathy, ARVC 2016-09-16 -26.7 1.75 Benign 1 -44851 Simple 397516912 C . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-11-24 -0.48 3.0 Uncertain significance 0 -44854 Simple 73375345 T . Benign/Likely benign 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-03-18 -12.3 3.0 Benign/Likely benign 0 -44855 Simple 36087964 C . Benign 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2016-06-14 -27.6 1.8 Benign 0 -44857 Simple 397516916 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-12-14 -0.45 3.5 Uncertain significance 0 -44861 Simple 35820473 A . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-05 -26.1 1.1428571428571428 Benign 1 -44863 Simple 200443042 T . Likely benign 2 2 not specified 2015-12-17 -4.2 4.0 Likely benign 0 -44869 Simple 145650440 G . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-07-22 -0.51 2.5 Uncertain significance 0 -44873 Simple 139071827 T . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-06-27 -22.5 1.5714285714285714 Benign/Likely benign 0 -44875 Simple 140965835 A . Uncertain significance 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-07-12 -0.78 2.0 Uncertain significance 0 -44877 Simple 1016835 A . Benign 2 6 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -32.4 2.0 Benign 0 -44878 Simple 146407262 C . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-08-04 -25.8 1.8571428571428572 Benign 1 -44879 Simple 56148603 T . Benign/Likely benign 2 6 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-08-17 -21.0 1.6666666666666667 Benign/Likely benign 0 -44886 Simple 2064217 T . Benign 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2016-06-14 -27.0 2.8 Benign 0 -44890 Simple 149929637 T . Likely benign 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-04-18 -4.5 4.0 Likely benign 0 -44893 Simple 28763964 A . Benign/Likely benign 2 8 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-21 -30.6 2.0 Benign 1 -44895 Simple 141120358 A . Benign/Likely benign 2 4 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-06-13 -15.6 2.5 Benign/Likely benign 0 -44898 Simple 397516934 T . Likely benign 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-10-20 -7.8 1.6666666666666667 Likely benign 0 -44899 Simple 148478829 C . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-07-31 -22.8 1.4285714285714286 Benign/Likely benign 0 -44900 Simple 77758574 T . Benign/Likely benign 2 9 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Cardiomyopathy, ARVC 2017-06-30 -34.8 1.6666666666666667 Benign 1 -44902 Simple 113028223 C . Benign/Likely benign 2 3 not specified 2013-12-10 -7.800000000000001 4.666666666666667 Likely benign 1 -44907 Simple 140029036 A . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-08-15 -24.6 1.7142857142857142 Benign 1 -44908 Simple 113902911 T . Benign/Likely benign 2 8 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiomyopathy, ARVC 2017-08-21 -28.8 1.875 Benign 1 -44911 Simple 372881903 T . Likely benign 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-08-06 -7.5 2.6666666666666665 Likely benign 0 -44912 Simple 193197554 A . Likely benign 2 1 not specified 2013-01-30 . 5.0 . 0 -44914 Simple 397516940 T . Pathogenic/Likely pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-08-07 14.7 1.0 Pathogenic/Likely pathogenic 0 -44915 Simple 2076299 G . Benign 2 7 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -37.2 2.142857142857143 Benign 0 -44917 Simple 28763967 T . Benign/Likely benign 2 10 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Sudden unexplained death;Cardiomyopathy, ARVC 2017-08-08 -36.3 2.0 Benign 1 -44918 Simple 145796901 G . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-12-15 -0.48 3.0 Uncertain significance 0 -44919 Simple 28763966 A . Benign 2 8 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-08 -42.6 2.0 Benign 0 -44921 Simple 191778417 A . Likely benign 2 4 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified;not provided 2017-02-07 -10.8 2.0 Benign/Likely benign 1 -44922 Simple 397516943 T . Pathogenic/Likely pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-06-20 14.7 1.0 Pathogenic/Likely pathogenic 0 -44925 Simple 6929069 A . Benign 2 7 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;not provided;Cardiomyopathy, ARVC 2016-07-22 -37.2 2.7142857142857144 Benign 0 -44930 Simple 397516947 T . Uncertain significance 2 2 not specified 2017-03-31 -0.48 2.5 Uncertain significance 0 -44931 Simple 146617683 A . Uncertain significance 2 2 not specified 2017-07-11 -0.5700000000000001 1.0 Uncertain significance 0 -44938 Simple 28763969 C . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-08-01 -22.8 2.142857142857143 Benign/Likely benign 0 -44941 Simple 149070106 A . Benign/Likely benign 2 6 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-08-03 -20.4 1.1666666666666667 Benign/Likely benign 0 -44946 Simple 397516955 A . Pathogenic/Likely pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;not provided 2017-10-30 14.7 0.6666666666666666 Pathogenic/Likely pathogenic 0 -44947 Simple 2076300 T . Benign 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2016-06-14 -27.0 2.8 Benign 0 -44949 Simple 375327581 G . Uncertain significance 2 2 not specified 2017-01-06 -0.48 3.0 Uncertain significance 0 -44950 Simple 78843072 C . Likely benign 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2016-06-14 -13.8 1.8 Benign/Likely benign 1 -44951 Simple 2806234 A . Benign/Likely benign 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-06-30 -10.5 1.6666666666666667 Benign/Likely benign 0 -44953 Simple 397516957 A . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-01-07 -22.5 1.7142857142857142 Benign/Likely benign 0 -44957 Simple 35379048 A . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-06-30 -26.4 1.7142857142857142 Benign 1 -44961 Simple 11558731 A . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-17 -27.0 1.5714285714285714 Benign 1 -44963 Simple 34884895 A . Benign/Likely benign 2 8 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-08-04 -30.0 2.125 Benign 1 -44967 Simple 2744380 C . Benign 2 10 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-01 -55.2 1.5 Benign 0 -44971 Simple 151029175 T . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-07-28 -25.2 2.0 Benign 1 -44973 Simple 397516969 C . Likely benign 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-05-01 -7.8 2.0 Likely benign 0 -44974 Simple 397516970 T . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.39 4.5 Uncertain significance 0 -44977 Simple 138872423 G . Uncertain significance 2 2 not specified 2015-02-05 -0.44999999999999996 3.5 Uncertain significance 0 -44978 Simple 397516973 A . Likely pathogenic 2 2 Primary dilated cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy 2014-12-01 4.5 3.5 Likely pathogenic 0 -44981 Simple 368193211 A . Uncertain significance 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-02-08 -0.8099999999999999 2.0 Uncertain significance 0 -44995 Simple 61742642 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2017-01-05 -12.6 2.3333333333333335 Benign/Likely benign 0 -45001 Simple 35544003 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45002 Simple 2361293 C . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -45006 Simple 1046116 G . Benign/Likely benign 2 4 Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -15.0 4.5 Benign/Likely benign 0 -45009 Simple 397516985 G . Uncertain significance 2 2 not specified 2015-06-11 -0.45 3.5 Uncertain significance 0 -45010 Simple 397516986 A . Pathogenic/Likely pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-10-18 11.7 2.6666666666666665 Pathogenic/Likely pathogenic 0 -45011 Simple 397516987 T . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2013-02-20 5.4 5.0 Likely pathogenic 1 -45016 Simple 372827156 A . Pathogenic/Likely pathogenic 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-07-27 20.1 1.25 Pathogenic 1 -45022 Simple 397516994 G . Pathogenic/Likely pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy;not provided;Cardiovascular phenotype 2017-06-08 10.5 2.6666666666666665 Pathogenic/Likely pathogenic 0 -45027 Simple 397516996 - . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-08-17 7.8 2.5 Likely pathogenic 1 -45028 Simple 397516997 - . Pathogenic/Likely pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-07-03 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -45029 Simple 144536197 C . Benign/Likely benign 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;not provided;Cardiovascular phenotype 2017-07-24 -16.5 1.6 Benign/Likely benign 0 -45030 Simple 201210997 T . Benign/Likely benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiovascular phenotype 2017-07-26 -15.6 2.25 Benign/Likely benign 0 -45032 Simple 397516999 C . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2016-07-26 -0.48 3.0 Uncertain significance 0 -45035 Simple 147240502 C . Benign/Likely benign 2 8 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-07-17 -31.200000000000003 2.125 Benign 1 -45038 Simple 397517003 T . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-05-30 7.8 2.5 Likely pathogenic 1 -45040 Simple 200009796 AA . Benign/Likely benign 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-07-21 -23.7 2.2 Benign/Likely benign 0 -45043 Simple 146708884 A . Benign/Likely benign 2 8 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-07-24 -35.1 2.5 Benign 1 -45044 Simple 397517007 A . Likely benign 2 2 not specified 2016-06-28 -4.5 4.0 Likely benign 0 -45046 Simple 397517009 - . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2016-06-28 7.5 4.0 Likely pathogenic 1 -45047 Simple 397517010 AA . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;Cardiovascular phenotype 2016-01-02 7.5 3.0 Likely pathogenic 1 -45048 Simple 397517011 G . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2016-11-28 -0.44999999999999996 3.5 Uncertain significance 0 -45049 Simple 397517012 A . Pathogenic 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-08-18 19.2 2.75 Pathogenic 0 -45052 Simple 397517014 A . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-07-27 -10.5 1.6666666666666667 Benign/Likely benign 0 -45053 Simple 146144731 T . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-06-19 -10.5 2.6666666666666665 Benign/Likely benign 0 -45056 Simple 199583774 A . Uncertain significance 2 3 Primary dilated cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-06-13 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -45057 Simple 75909145 A . Benign/Likely benign 2 6 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-21 -25.8 2.8333333333333335 Benign 1 -45060 Simple 397517018 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-04-07 -0.54 1.5 Uncertain significance 0 -45062 Simple 397517020 T . Uncertain significance 2 2 not specified 2016-06-08 -0.54 2.0 Uncertain significance 0 -45063 Simple 397517021 C . Pathogenic 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided;Cardiovascular phenotype 2017-06-03 27.0 1.6 Pathogenic 0 -45064 Simple 74072938 A . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiomyopathy, ARVC 2017-08-21 -12.0 2.3333333333333335 Benign/Likely benign 0 -45067 Simple 112592855 C . Benign/Likely benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-08-11 -17.400000000000002 2.75 Benign/Likely benign 0 -45069 Simple 142362933 G . Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-07-13 -4.8 2.5 Likely benign 0 -45070 Simple 149968852 G . Benign/Likely benign 2 3 not specified;Cardiomyopathy, ARVC 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -45074 Simple 397517024 AA . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-05-17 -0.78 2.0 Uncertain significance 0 -45079 Simple 141438322 G . Uncertain significance 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;not provided;Cardiovascular phenotype 2017-03-15 -1.05 2.0 Uncertain significance 0 -45084 Simple 143004808 T . Benign/Likely benign 2 10 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Cardiovascular phenotype;Dysplasia, arrhythmogenic right ventricular;Cardiomyopathy, ARVC 2017-08-21 -39.300000000000004 2.2 Benign 1 -45085 Simple 62001016 A . Benign/Likely benign 2 6 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiomyopathy, ARVC 2017-08-07 -23.7 2.6666666666666665 Benign/Likely benign 0 -45086 Simple 3748279 T . Benign/Likely benign 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-18 -18.9 3.4 Benign/Likely benign 0 -45089 Simple 61729381 A . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-06-05 -12.0 2.0 Benign/Likely benign 0 -45090 Simple 61729382 T . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-03-22 -14.4 2.6666666666666665 Benign/Likely benign 1 -45092 Simple 142636176 T . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-08-21 -14.4 2.6666666666666665 Benign/Likely benign 1 -45093 Simple 192662552 C . Benign/Likely benign 2 6 Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-09 -21.9 2.1666666666666665 Benign/Likely benign 0 -45094 Simple 115324990 T . Benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-16 -19.8 2.5 Benign/Likely benign 1 -45095 Simple 200062984 C . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-05 -13.2 2.5 Benign/Likely benign 0 -45101 Simple 34287852 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45102 Simple 55925184 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45103 Simple 55964611 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45104 Simple 2361660 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45105 Simple 4660468 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45106 Simple 55737429 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45107 Simple 12117176 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45108 Simple 12143503 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45109 Simple 143965233 T . Benign/Likely benign 2 2 not specified 2015-06-18 -7.2 3.5 Likely benign 1 -45110 Simple 41277907 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -45119 Simple 147406419 C . Likely benign 3 3 not specified;Rasopathy 2017-04-18 -11.1 1.3333333333333333 Benign/Likely benign 1 -45124 Simple 112445441 A . drug response 3 0 Non-small cell lung cancer;Colorectal Neoplasms;Neoplasm of the thyroid gland;cetuximab response - Dosage;panitumumab response - Dosage . . . . 0 -45127 Simple 397517042 C . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided 2014-06-02 6.9 3.5 Likely pathogenic 1 -45129 Simple 397517043 - . Benign 3 5 not specified;not provided;Rasopathy 2017-04-03 -16.14 1.0 Benign/Likely benign 1 -45130 Simple 12606 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45133 Simple 61732664 C . Benign/Likely benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -45134 Simple 2273857 G . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.0 Benign/Likely benign 0 -45136 Simple 144031818 G . Benign/Likely benign 2 3 not specified 2015-08-10 -11.1 3.3333333333333335 Benign/Likely benign 0 -45137 Simple 3831003 - . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45138 Simple 111033431 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -45140 Simple 11756446 T . Benign/Likely benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2017-02-16 -15.0 2.75 Benign/Likely benign 0 -45144 Simple 55662069 T . Benign/Likely benign 2 2 not specified 2015-10-20 -8.100000000000001 2.0 Likely benign 1 -45146 Simple 60970824 A . Benign/Likely benign 2 1 not specified 2015-07-21 . 2.0 . 0 -45147 Simple 2295936 T . Benign 2 1 not specified 2009-06-19 . 8.0 . 0 -45151 Simple 55905349 A . Benign 2 1 not specified 2012-03-16 . 5.0 . 0 -45154 Simple 9443199 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -45155 Simple 114970874 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45159 Simple 41269323 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -45160 Simple 146461956 G . Benign/Likely benign 2 5 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -19.2 1.8 Benign/Likely benign 0 -45163 Simple 201507590 A . Uncertain significance 2 5 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2017-01-24 -1.44 1.4 Uncertain significance 0 -45164 Simple 12210963 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -45167 Simple 144038082 C . Likely benign 2 2 not specified 2016-11-16 -5.4 2.0 Likely benign 0 -45169 Simple 368171271 C . Benign/Likely benign 2 2 not specified 2014-09-22 -6.3 4.5 Likely benign 1 -45171 Simple 140261885 A . Likely benign 2 2 not specified 2016-08-05 -5.7 1.5 Likely benign 0 -45178 Simple 148695567 T . Benign 2 2 Familial hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5;not specified 2017-03-20 -9.0 3.0 Benign/Likely benign 1 -45179 Simple 397517062 T . Likely benign 2 3 Familial hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5;not specified 2016-11-07 -7.2 3.3333333333333335 Likely benign 0 -45181 Simple 145023222 A . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5;not specified 2017-04-14 -8.7 3.0 Benign/Likely benign 0 -45192 Simple 138347995 C . Likely benign 2 2 Familial hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5;not specified 2016-08-03 -4.5 5.5 Likely benign 0 -45194 Simple 2307493 G . Benign/Likely benign 2 8 Familial hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5;Atrial septal defect;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-21 -29.4 1.625 Benign 1 -45197 Simple 397517077 - . Pathogenic/Likely pathogenic 2 3 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;Rasopathy 2017-04-13 9.6 2.6666666666666665 Pathogenic/Likely pathogenic 0 -45198 Simple 201747825 T . Benign/Likely benign 2 4 not specified;Rasopathy;Noonan-Like Syndrome Disorder 2017-06-05 -12.0 2.25 Benign/Likely benign 0 -45199 Simple 397517078 TT . Likely benign 2 2 not specified;Noonan-Like Syndrome Disorder 2016-06-14 -4.8 3.0 Likely benign 0 -45201 Simple 2229072 A . Benign/Likely benign 2 4 not specified;Rasopathy;Noonan-Like Syndrome Disorder 2017-07-28 -16.2 2.75 Benign/Likely benign 0 -45202 Simple 61755280 C . Benign/Likely benign 2 4 not specified;Rasopathy;Noonan-Like Syndrome Disorder 2017-05-02 -13.8 3.0 Benign/Likely benign 0 -45203 Simple 2227988 T . Benign/Likely benign 2 5 not specified;Rasopathy;Noonan-Like Syndrome Disorder 2017-08-03 -19.8 2.6 Benign/Likely benign 0 -45208 Simple 1893177 T . Benign 2 4 not specified;Rasopathy;Noonan-Like Syndrome Disorder 2017-08-22 -18.6 3.0 Benign/Likely benign 1 -45209 Simple 2227987 C . Benign/Likely benign 2 4 not specified;Rasopathy;Noonan-Like Syndrome Disorder 2017-07-28 -16.2 2.75 Benign/Likely benign 0 -45210 Simple 397517082 G . Uncertain significance 2 3 not specified 2015-12-24 -0.72 3.0 Uncertain significance 0 -45211 Simple 77284821 G . Benign 2 5 not specified;not provided;Rasopathy;Noonan-Like Syndrome Disorder 2017-08-08 -24.6 2.6 Benign 0 -45212 Simple 2074913 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -45215 Simple 2302102 A . Benign/Likely benign 2 3 Deafness, autosomal dominant 1;not specified;Seizures, cortical blindness, and microcephaly syndrome;Nonsyndromic Hearing Loss, Mixed 2017-07-31 -12.6 2.0 Benign/Likely benign 0 -45271 Simple 1050171 A . Benign/Likely benign 2 1 Lung cancer;not specified 2016-06-14 . 1.0 . 0 -45298 Simple 111372582 A . Likely benign 2 2 Costello syndrome;not specified 2017-03-20 -4.5 3.5 Likely benign 0 -45300 Simple 200747280 A . Likely benign 2 2 Costello syndrome;not specified 2017-06-12 -4.5 3.0 Likely benign 0 -45301 Simple 397517139 A . Likely benign 2 2 Costello syndrome;not specified 2017-06-01 -4.5 4.0 Likely benign 0 -45302 Simple 146440188 G . Likely benign 2 2 Costello syndrome;not specified 2017-04-19 -4.5 3.0 Likely benign 0 -45303 Simple 397517141 A . Uncertain significance 2 2 Costello syndrome;not specified 2016-02-04 -0.48 3.0 Uncertain significance 0 -45305 Simple 397517143 T . Likely benign 3 4 Costello syndrome;not specified;Rasopathy 2017-04-03 -12.0 2.75 Benign/Likely benign 1 -45306 Simple 17546153 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -45307 Simple 4759043 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -45311 Simple 17119344 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -45314 Simple 612969 G . Benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -45315 Simple 536069 G . Benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -45316 Simple 143730090 A . Benign/Likely benign 2 2 not specified 2015-07-09 -7.2 3.5 Likely benign 1 -45319 Simple 10502247 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45322 Simple 520805 C . Benign/Likely benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -45323 Simple 586473 C . Benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -45325 Simple 61291716 G . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45329 Simple 12275038 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45330 Simple 7130952 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45331 Simple 33981325 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45332 Simple 77628498 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45334 Simple 34963131 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45335 Simple 142948530 T . Benign/Likely benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -45336 Simple 526433 A . Benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -45338 Simple 2155369 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45339 Simple 35507522 G . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45340 Simple 516678 G . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45341 Simple 73599492 G . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45342 Simple 143302176 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -45343 Simple 145155424 G . Benign 3 9 Noonan syndrome;not specified;not provided;Rasopathy;Gingival fibromatosis 2017-04-18 -34.8 2.888888888888889 Benign 0 -45344 Simple 397517146 C . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided 2017-08-10 7.8 2.5 Likely pathogenic 1 -45345 Simple 397517150 G . Pathogenic 2 3 Noonan syndrome;not provided;Rasopathy 2017-07-28 16.8 1.0 Pathogenic 0 -45348 Simple 371314838 T . Uncertain significance 2 2 Noonan syndrome;not specified 2014-10-01 -0.48 3.0 Uncertain significance 0 -45350 Simple 186640807 C . Benign 3 5 not specified;not provided;Rasopathy 2017-04-18 -22.8 2.6 Benign/Likely benign 1 -45351 Simple 397517157 C . Uncertain significance 2 3 not specified;Rasopathy 2017-06-12 -0.87 1.0 Uncertain significance 0 -45362 Simple 201982464 C . Benign 3 7 Noonan syndrome;not specified;Rasopathy;Gingival fibromatosis 2017-04-18 -23.04 1.5714285714285714 Benign/Likely benign 1 -45363 Simple 397517167 AGAG . Benign/Likely benign 2 2 not specified;Rasopathy 2014-04-07 -6.6 4.0 Likely benign 1 -45364 Simple 201085754 C . Likely benign 3 3 not specified;Rasopathy 2017-04-03 -6.54 1.3333333333333333 Likely benign 0 -45367 Simple 371408734 T . Likely benign 3 2 not specified;Rasopathy 2017-04-18 -3.4499999999999997 4.0 Uncertain significance 2 -45368 Simple 367693130 C . Uncertain significance 2 3 not specified;Rasopathy 2017-04-10 -0.75 3.0 Uncertain significance 0 -45374 Simple 143962515 C . Benign 3 5 Noonan syndrome;not specified;Rasopathy;Gingival fibromatosis 2017-04-18 -10.049999999999999 2.2 Benign/Likely benign 1 -45379 Simple 397517180 A . Pathogenic 2 2 Noonan syndrome;not provided 2017-08-23 10.2 2.0 Pathogenic/Likely pathogenic 1 -45380 Simple 149408382 A . Benign 2 4 Dilated cardiomyopathy 1O;not specified 2017-07-11 -19.8 2.5 Benign/Likely benign 1 -45381 Simple 143481916 T . Uncertain significance 2 3 Noonan syndrome;not specified;Gingival fibromatosis 2016-06-14 -0.75 2.6666666666666665 Uncertain significance 0 -45382 Simple 145455570 A . Uncertain significance 2 2 not specified 2017-08-17 -0.44999999999999996 3.0 Uncertain significance 0 -45384 Simple 4762720 C . Benign/Likely benign 2 5 Hypertrichotic osteochondrodysplasia;not specified;Familial atrial fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -16.2 2.6 Benign/Likely benign 0 -45386 Simple 10770865 G . Benign/Likely benign 2 6 Hypertrichotic osteochondrodysplasia;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -22.2 2.3333333333333335 Benign/Likely benign 0 -45390 Simple 76458291 T . Benign 2 3 Dilated cardiomyopathy 1O;not specified 2017-06-26 -16.2 1.6666666666666667 Benign/Likely benign 1 -45391 Simple 61001398 A . Benign/Likely benign 2 7 Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-27 -28.2 2.2857142857142856 Benign 1 -45395 Simple 200349671 A . Uncertain significance 2 2 not specified 2017-01-17 -0.44999999999999996 3.5 Uncertain significance 0 -45396 Simple 397517186 T . Uncertain significance 2 2 not specified 2016-03-02 -0.42000000000000004 4.0 Uncertain significance 0 -45397 Simple 148174226 T . Likely benign 2 4 Dilated cardiomyopathy 1O;not specified;not provided 2017-05-03 -10.2 2.25 Benign/Likely benign 1 -45399 Simple 185235724 G . Benign/Likely benign 2 4 Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O;Brugada syndrome;not specified 2017-08-01 -14.4 0.75 Benign/Likely benign 0 -45401 Simple 74067815 A . Likely benign 2 3 Dilated cardiomyopathy 1O;not specified 2017-01-06 -7.8 2.3333333333333335 Likely benign 0 -45402 Simple 697250 G . Benign/Likely benign 2 6 Hypertrichotic osteochondrodysplasia;not specified;Familial atrial fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -20.400000000000002 2.3333333333333335 Benign/Likely benign 0 -45403 Simple 145561881 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1O;not specified 2016-08-30 -10.5 2.0 Benign/Likely benign 0 -45405 Simple 11835804 G . Benign/Likely benign 2 6 Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O;not specified;Familial atrial fibrillation;Dilated Cardiomyopathy, Dominant 2017-08-07 -22.8 2.1666666666666665 Benign/Likely benign 0 -45408 Simple 370712530 A . Benign/Likely benign 2 2 not specified 2015-03-20 -7.2 3.5 Likely benign 1 -45409 Simple 147895473 T . Benign 2 5 Dilated cardiomyopathy 1O;not specified 2017-07-31 -23.4 3.0 Benign/Likely benign 1 -45411 Simple 145005748 T . Likely benign 2 2 Dilated cardiomyopathy 1O;not specified 2016-02-09 -4.5 3.5 Likely benign 0 -45414 Simple 397517190 G . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2015-06-03 -0.45 3.5 Uncertain significance 0 -45415 Simple 368079660 G . Likely benign 2 2 Dilated cardiomyopathy 1O;not specified 2016-01-17 -4.2 5.0 Likely benign 0 -45419 Simple 3759236 T . Benign/Likely benign 2 6 Hypertrichotic osteochondrodysplasia;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -21.6 2.5 Benign/Likely benign 0 -45420 Simple 138356189 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1O;not specified 2017-06-22 -12.6 2.0 Benign/Likely benign 0 -45421 Simple 200986421 T . Likely benign 2 2 not specified 2016-01-19 -4.5 3.5 Likely benign 0 -45422 Simple 193922684 - . Benign/Likely benign 2 3 Dilated cardiomyopathy 1O;Cardiomyopathy;not specified 2017-07-20 -9.6 3.3333333333333335 Benign/Likely benign 0 -45424 Simple 139127928 G . Benign 2 3 Dilated cardiomyopathy 1O;not specified 2017-07-10 -14.4 2.6666666666666665 Benign/Likely benign 1 -45425 Simple 116996553 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -21.6 1.8 Benign/Likely benign 0 -45428 Simple 56072215 T . Benign/Likely benign 2 6 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -21.6 3.3333333333333335 Benign/Likely benign 0 -45430 Simple 71530904 A . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -45431 Simple 1801206 T . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -19.8 2.75 Benign/Likely benign 0 -45432 Simple 35218685 A . Benign/Likely benign 2 3 not specified 2015-06-25 -9.9 2.6666666666666665 Benign/Likely benign 0 -45433 Simple 71539646 T . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -13.2 3.0 Benign/Likely benign 0 -45434 Simple 1801208 A . Benign/Likely benign 2 5 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -18.0 3.0 Benign/Likely benign 0 -45436 Simple 114152068 T . Benign/Likely benign 2 5 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -20.4 2.2 Benign/Likely benign 0 -45437 Simple 1801214 T . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -19.8 2.75 Benign/Likely benign 0 -45438 Simple 2230719 T . Benign/Likely benign 2 5 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -17.4 3.2 Benign/Likely benign 0 -45439 Simple 1805069 A . Benign/Likely benign 2 8 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant;Monogenic diabetes 2016-06-17 -34.800000000000004 2.5 Benign 1 -45440 Simple 2230720 T . Benign/Likely benign 2 7 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant;Monogenic diabetes 2016-06-14 -27.6 3.0 Benign 1 -45442 Simple 734312 A . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -19.8 2.75 Benign/Likely benign 0 -45445 Simple 71530907 T . Benign/Likely benign 2 5 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2017-02-02 -22.8 1.4 Benign/Likely benign 0 -45448 Simple 71530908 T . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -45449 Simple 372928810 T . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -45451 Simple 75096624 A . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -45452 Simple 2230721 A . Benign/Likely benign 2 5 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -17.4 3.2 Benign/Likely benign 0 -45453 Simple 141328044 A . Benign/Likely benign 2 6 not specified;not provided;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2017-05-15 -23.4 1.8333333333333333 Benign/Likely benign 0 -45455 Simple 1046314 A . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -19.8 2.75 Benign/Likely benign 0 -45456 Simple 1046316 G . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -19.8 2.75 Benign/Likely benign 0 -45457 Simple 141225426 T . Benign 2 2 not specified 2014-04-17 -8.4 4.0 Benign/Likely benign 1 -45458 Simple 199533137 A . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -12.3 2.5 Benign/Likely benign 0 -45459 Simple 9998519 T . Benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -45460 Simple 1801213 G . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -45462 Simple 115561278 G . Benign 2 2 not specified 2014-04-17 -8.4 4.0 Benign/Likely benign 1 -45463 Simple 1801212 A . Benign 2 4 not specified;WFS1-Related Spectrum Disorders 2016-06-14 -18.0 3.5 Benign/Likely benign 1 -45468 Simple 17849079 T . Benign/Likely benign 2 2 not specified;Cowden syndrome 2017-08-07 -7.8 2.5 Likely benign 1 -45471 Simple 703089 C . Benign 2 2 not specified 2013-11-22 -7.800000000000001 4.5 Likely benign 2 -45472 Simple 4025981 C . Benign 2 2 not specified 2014-01-17 -7.800000000000001 4.5 Likely benign 2 -45473 Simple 140734883 G . Benign 2 3 Primary dilated cardiomyopathy;not specified 2016-05-11 -16.2 2.0 Benign/Likely benign 1 -45474 Simple 71578938 C . Benign 2 3 Primary dilated cardiomyopathy;not specified 2017-05-16 -14.4 2.6666666666666665 Benign/Likely benign 1 -45475 Simple 41277370 G . Benign 2 2 not specified 2014-01-17 -7.800000000000001 4.5 Likely benign 2 -45476 Simple 114918858 A . Benign 2 4 Primary dilated cardiomyopathy;not specified 2017-05-03 -19.8 2.5 Benign/Likely benign 1 -45478 Simple 397517203 C . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2017-07-24 -7.8 2.5 Likely benign 1 -45479 Simple 202112717 C . Likely benign 2 3 Primary dilated cardiomyopathy;not specified 2017-06-19 -8.7 0.6666666666666666 Benign/Likely benign 1 -45480 Simple 373699154 T . Benign/Likely benign 2 2 not specified 2015-04-13 -7.2 3.5 Likely benign 1 -45481 Simple 145770601 G . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2017-05-02 -0.48 2.5 Uncertain significance 0 -45482 Simple 397517204 C . Benign/Likely benign 2 2 not specified 2014-05-23 -6.6 4.0 Likely benign 1 -45483 Simple 41277376 T . Benign/Likely benign 2 2 not specified 2015-10-22 -7.5 2.5 Likely benign 1 -45484 Simple 10491056 G . Benign 2 2 not specified 2013-11-22 -7.800000000000001 4.5 Likely benign 2 -45487 Simple 79718972 C . Benign 2 3 Primary dilated cardiomyopathy;not specified 2017-07-31 -14.4 2.6666666666666665 Benign/Likely benign 1 -45488 Simple 4748728 T . Benign 2 2 not specified 2016-12-19 -9.6 3.0 Benign/Likely benign 1 -45489 Simple 1006363 T . Benign 2 2 not specified 2013-12-09 -7.800000000000001 4.5 Likely benign 2 -45490 Simple 74120667 G . Benign 2 2 Primary dilated cardiomyopathy;not specified 2017-06-05 -9.6 2.5 Benign/Likely benign 1 -45491 Simple 114875104 A . Uncertain significance 2 2 not specified 2017-07-14 -0.48 2.5 Uncertain significance 0 -45493 Simple 71535732 C . Benign 2 4 Primary dilated cardiomyopathy;not specified 2017-08-04 -19.2 2.75 Benign/Likely benign 1 -45494 Simple 143930021 C . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified 2017-06-12 -11.7 1.0 Benign/Likely benign 0 -45495 Simple 57918610 AA . Benign/Likely benign 2 4 Primary dilated cardiomyopathy;Cardiomyopathy;not specified 2017-08-08 -17.4 2.75 Benign/Likely benign 0 -45496 Simple 143584663 A . Likely benign 2 3 Primary dilated cardiomyopathy;not specified 2017-07-25 -8.7 0.6666666666666666 Benign/Likely benign 1 -45497 Simple 2296614 C . Benign 2 2 not specified 2014-01-17 -7.800000000000001 4.5 Likely benign 2 -45498 Simple 71578983 C . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified 2017-07-24 -11.4 1.0 Benign/Likely benign 0 -45500 Simple 2296610 T . Benign 2 3 Primary dilated cardiomyopathy;not specified 2017-07-27 -13.8 3.0 Benign/Likely benign 1 -45502 Simple 35277762 C . Benign/Likely benign 2 3 not specified 2016-06-07 -8.4 3.3333333333333335 Benign/Likely benign 0 -45504 Simple 111033338 T . Benign/Likely benign 2 4 Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1b;Deafness, autosomal dominant 3b;Hidrotic ectodermal dysplasia syndrome;not specified 2017-05-18 -16.8 2.75 Benign/Likely benign 0 -45506 Simple 397517206 A . Likely pathogenic 2 2 Nonsyndromic hearing loss and deafness;not provided 2016-08-17 4.5 3.5 Likely pathogenic 0 -45509 Simple 150209221 G . Benign/Likely benign 2 2 Myofibrillar myopathy, ZASP-related;not specified 2016-04-04 -9.6 3.0 Benign/Likely benign 0 -45511 Simple 45539535 A . Likely benign 2 4 Myofibrillar myopathy, ZASP-related;not specified;not provided 2017-07-21 -10.5 1.75 Benign/Likely benign 1 -45512 Simple 139834701 A . Benign 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-06-14 -9.6 2.5 Benign/Likely benign 1 -45518 Simple 397517213 T . Likely benign 2 2 not specified 2016-12-05 -4.8 3.0 Likely benign 0 -45520 Simple 146265188 A . Benign/Likely benign 2 4 Myofibrillar myopathy, ZASP-related;not specified;not provided 2017-06-21 -15.0 2.5 Benign/Likely benign 0 -45522 Simple 139709036 A . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.39 4.5 Uncertain significance 0 -45524 Simple 45591834 A . Benign/Likely benign 2 4 Myofibrillar myopathy, ZASP-related;not specified 2017-07-26 -17.1 2.5 Benign/Likely benign 0 -45526 Simple 45579241 A . Benign 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-08-04 -9.0 3.0 Benign/Likely benign 1 -45530 Simple 3740343 A . Benign/Likely benign 2 7 Myofibrillar myopathy, ZASP-related;not specified;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-07 -25.2 2.4285714285714284 Benign 1 -45531 Simple 45581435 T . Likely benign 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-08-04 -4.5 3.0 Likely benign 0 -45538 Simple 45578640 T . Benign/Likely benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-07-25 -14.4 3.0 Benign/Likely benign 0 -45542 Simple 45613039 A . Benign/Likely benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-07-10 -14.4 1.0 Benign/Likely benign 0 -45544 Simple 35507268 A . Benign/Likely benign 2 6 Myofibrillar myopathy, ZASP-related;not specified 2017-07-27 -22.2 2.3333333333333335 Benign/Likely benign 0 -45547 Simple 45543741 A . Benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-07-26 -13.8 3.3333333333333335 Benign/Likely benign 1 -45548 Simple 45543741 T . Benign 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-06-27 -9.0 5.0 Benign/Likely benign 1 -45550 Simple 45531131 A . Benign 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-08-02 -9.0 4.5 Benign/Likely benign 1 -45551 Simple 139922045 A . Uncertain significance 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-05-26 -0.84 1.0 Uncertain significance 0 -45552 Simple 45563234 A . Likely benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-07-31 -8.4 1.3333333333333333 Benign/Likely benign 1 -45554 Simple 144509718 T . Benign/Likely benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2016-09-20 -10.8 2.3333333333333335 Benign/Likely benign 0 -45555 Simple 45521338 T . Uncertain significance 2 3 not specified;not provided 2017-01-06 -0.69 3.3333333333333335 Uncertain significance 0 -45561 Simple 140347820 A . Benign/Likely benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2016-03-03 -10.8 2.0 Benign/Likely benign 0 -45566 Simple 140949805 A . Benign/Likely benign 2 2 not specified 2016-01-28 -6.300000000000001 3.5 Likely benign 1 -45567 Simple 9727773 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -45568 Simple 41279678 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -45570 Simple 12069435 G . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -45572 Simple 112935966 A . Benign 2 2 not specified 2016-06-07 -9.6 3.0 Benign/Likely benign 1 -45573 Simple 144140265 T . Benign/Likely benign 2 4 Danon disease;not specified;not provided 2017-08-02 -18.3 2.0 Benign/Likely benign 0 -45574 Simple 115083446 T . Benign 2 2 not specified 2015-07-02 -9.600000000000001 3.0 Benign/Likely benign 1 -45577 Simple 71579355 C . Benign 2 5 Dilated cardiomyopathy 1W;not specified;Cardiovascular phenotype 2017-07-21 -25.2 2.4 Benign 0 -45579 Simple 2229507 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1W;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-07 -21.6 3.2 Benign/Likely benign 0 -45580 Simple 2228373 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1W;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-07 -21.6 3.2 Benign/Likely benign 0 -45583 Simple 150120464 A . Benign 2 4 Dilated cardiomyopathy 1W;not specified;Cardiovascular phenotype 2017-07-20 -19.2 2.75 Benign/Likely benign 1 -45584 Simple 138566234 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1W;not specified 2017-07-27 -10.5 2.0 Benign/Likely benign 0 -45585 Simple 150402791 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1W;not specified 2017-08-04 -9.6 2.6666666666666665 Benign/Likely benign 0 -45591 Simple 397517236 C . Uncertain significance 2 3 not specified;not provided 2013-07-12 -0.57 5.0 Uncertain significance 0 -45595 Simple 767809 A . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -15.0 3.5 Benign/Likely benign 0 -45596 Simple 373010557 G . Uncertain significance 2 2 Dilated cardiomyopathy 1W;Dilated cardiomyopathy 1S;not specified 2017-06-27 -0.54 1.5 Uncertain significance 0 -45598 Simple 140308982 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1W;not specified 2017-05-16 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -45599 Simple 16931179 T . Benign/Likely benign 2 6 Dilated cardiomyopathy 1W;not specified;not provided;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-11 -23.7 2.8333333333333335 Benign/Likely benign 0 -45600 Simple 2131956 G . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -15.0 3.5 Benign/Likely benign 0 -45603 Simple 150595117 T . Uncertain significance 2 5 Dilated cardiomyopathy 1W;Familial hypertrophic cardiomyopathy 15;not specified;Cardiovascular phenotype 2017-05-23 -1.38 1.6 Uncertain significance 0 -45604 Simple 138619320 T . Likely benign 2 2 Dilated cardiomyopathy 1W;not specified 2017-06-27 -4.8 2.5 Likely benign 0 -45612 Simple 199562976 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1W;not specified 2016-10-23 -9.6 3.0 Benign/Likely benign 0 -45619 Simple 56264452 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1W;not specified 2017-07-31 -13.5 1.6666666666666667 Benign/Likely benign 0 -45620 Simple 139312390 T . Uncertain significance 2 3 Dilated cardiomyopathy 1W;not specified;not provided 2016-03-13 -0.69 3.3333333333333335 Uncertain significance 0 -45622 Simple 61731180 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1W;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-27 -21.6 2.6 Benign/Likely benign 0 -45623 Simple 397517247 T . Uncertain significance 2 2 Dilated cardiomyopathy 1W;not specified 2016-09-14 -0.44999999999999996 4.0 Uncertain significance 0 -45625 Simple 28730751 G . Benign 2 4 ANKRD1-related dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-05-28 -21.0 2.0 Benign/Likely benign 1 -45629 Simple 116511484 T . Benign/Likely benign 2 2 not specified 2014-05-16 -6.6 4.0 Likely benign 1 -45630 Simple 114435632 A . Benign/Likely benign 2 4 ANKRD1-related dilated cardiomyopathy;not specified;Dilated cardiomyopathy 2017-07-26 -15.9 1.5 Benign/Likely benign 0 -45632 Simple 58762441 - . Benign 2 2 Cardiomyopathy;not specified 2013-03-06 -7.800000000000001 4.5 Likely benign 2 -45633 Simple 137914723 T . Benign/Likely benign 2 5 ANKRD1-related dilated cardiomyopathy;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-24 -24.0 1.8 Benign 1 -45635 Simple 397517251 A . Benign/Likely benign 2 3 ANKRD1-related dilated cardiomyopathy;not specified 2017-02-22 -11.7 1.3333333333333333 Benign/Likely benign 0 -45639 Simple 35550482 A . Benign/Likely benign 2 6 ANKRD1-related dilated cardiomyopathy;not specified;Dilated cardiomyopathy;Cardiovascular phenotype 2017-08-08 -24.3 1.6666666666666667 Benign 1 -45644 Simple 2297815 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.8 3.25 Benign/Likely benign 0 -45647 Simple 4978584 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -18.6 3.2 Benign/Likely benign 0 -45650 Simple 4979387 G . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.5 Benign/Likely benign 0 -45654 Simple 79572315 A . Benign 2 2 not specified 2014-11-07 -7.8 4.5 Likely benign 2 -45660 Simple 2274160 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.8 3.25 Benign/Likely benign 0 -45661 Simple 12339210 C . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 3.75 Benign/Likely benign 0 -45663 Simple 942519 G . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.0 2.75 Benign/Likely benign 0 -45666 Simple 201690920 T . Uncertain significance 2 2 not specified 2016-01-19 -0.54 2.0 Uncertain significance 0 -45669 Simple 34963246 A . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -45671 Simple 56204273 A . Benign/Likely benign 2 3 not specified;not provided 2017-08-23 -10.8 3.0 Benign/Likely benign 0 -45672 Simple 2274159 G . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -45674 Simple 2274158 T . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -45684 Simple 113234987 T . Benign/Likely benign 2 5 Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Cardiovascular phenotype;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -16.8 2.4 Benign/Likely benign 0 -45687 Simple 200429988 G . Benign/Likely benign 2 3 Glycogen storage disease of heart, lethal congenital;not specified 2017-03-25 -12.0 3.0 Benign/Likely benign 0 -45689 Simple 77902041 A . Benign/Likely benign 2 5 Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -15.6 2.8 Benign/Likely benign 0 -45693 Simple 147349145 T . Uncertain significance 2 2 Glycogen storage disease of heart, lethal congenital;Primary familial hypertrophic cardiomyopathy;not specified 2017-02-20 -0.5700000000000001 1.5 Uncertain significance 0 -45695 Simple 370257703 C . Uncertain significance 2 2 not specified 2014-07-23 -0.42 4.0 Uncertain significance 0 -45697 Simple 397517264 T . Uncertain significance 2 6 Glycogen storage disease of heart, lethal congenital;Primary familial hypertrophic cardiomyopathy;not specified;Wolff-Parkinson-White syndrome;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2017-02-01 -1.74 1.3333333333333333 Uncertain significance 0 -45699 Simple 111627309 A . Benign/Likely benign 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2017-07-27 -7.8 2.5 Likely benign 1 -45700 Simple 373649956 T . Benign/Likely benign 2 3 Glycogen storage disease of heart, lethal congenital;not specified 2016-09-28 -9.6 3.0 Benign/Likely benign 0 -45702 Simple 28763998 G . Benign/Likely benign 2 6 Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Cardiovascular phenotype;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2017-08-07 -22.8 2.5 Benign/Likely benign 0 -45705 Simple 397517267 A . Uncertain significance 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2016-10-04 -0.51 2.5 Uncertain significance 0 -45706 Simple 138167675 T . Benign 2 4 Glycogen storage disease of heart, lethal congenital;not specified;Cardiovascular phenotype 2017-07-06 -19.2 2.75 Benign/Likely benign 1 -45708 Simple 182750960 A . Uncertain significance 2 2 not specified 2016-02-23 -0.45 3.5 Uncertain significance 0 -45709 Simple 144384573 T . Benign/Likely benign 2 7 Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Cardiovascular phenotype;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2017-08-22 -30.0 1.5714285714285714 Benign 1 -45711 Simple 148791216 A . Likely benign 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2016-06-18 -5.7 1.5 Likely benign 0 -45713 Simple 397517268 A . Likely benign 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2017-04-08 -4.5 4.5 Likely benign 0 -45714 Simple 397517269 T . Uncertain significance 2 2 not specified 2016-12-16 -0.54 2.0 Uncertain significance 0 -45715 Simple 139579816 C . Uncertain significance 2 2 not specified 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -45716 Simple 142808871 T . Uncertain significance 2 2 not specified 2012-10-04 -0.32999999999999996 6.0 Uncertain significance 0 -45717 Simple 397517270 A . Uncertain significance 2 7 Glycogen storage disease of heart, lethal congenital;Arrhythmogenic right ventricular cardiomyopathy, type 9;Familial hypertrophic cardiomyopathy 6;Wolff-Parkinson-White pattern;not specified;Hypertrophic cardiomyopathy;Wolff-Parkinson-White syndrome;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2017-07-13 -1.95 1.5714285714285714 Uncertain significance 0 -45721 Simple 141804012 A . Benign/Likely benign 2 3 not specified;Cardiovascular phenotype 2017-03-14 -11.1 1.6666666666666667 Benign/Likely benign 0 -45722 Simple 373000537 A . Benign/Likely benign 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2016-08-18 -7.5 5.5 Likely benign 1 -45724 Simple 397517274 A . Uncertain significance 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2017-03-17 -0.48 2.5 Uncertain significance 0 -45727 Simple 116605521 A . Benign/Likely benign 2 6 Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Cardiovascular phenotype;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2017-08-08 -22.8 2.0 Benign/Likely benign 0 -45729 Simple 397517277 C . Uncertain significance 2 4 Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -1.08 2.0 Uncertain significance 0 -45730 Simple 140001300 A . Benign 2 3 Glycogen storage disease of heart, lethal congenital;not specified;Cardiovascular phenotype 2017-07-27 -14.4 2.6666666666666665 Benign/Likely benign 1 -45733 Simple 201240745 C . Uncertain significance 2 2 not specified 2017-05-01 -0.48 2.5 Uncertain significance 0 -45737 Simple 201876556 A . Likely benign 2 2 not specified 2016-12-05 -5.7 1.5 Likely benign 0 -45742 Simple 79230542 A . Benign/Likely benign 2 2 not specified 2014-10-16 -8.4 4.0 Benign/Likely benign 0 -45744 Simple 854800 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-11-23 -12.6 2.3333333333333335 Benign/Likely benign 0 -45748 Simple 2072652 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45750 Simple 2072653 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45751 Simple 854778 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45753 Simple 854777 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -45754 Simple 2272571 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45758 Simple 2955379 C . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -45759 Simple 16960959 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45761 Simple 854772 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -45763 Simple 200355614 G . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -45767 Simple 712272 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45769 Simple 861278 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45770 Simple 373922407 A . Likely benign 2 1 not specified 2012-04-30 . 5.0 . 0 -45772 Simple 199900657 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -45773 Simple 140029076 T . Benign/Likely benign 2 3 not specified;not provided 2017-08-23 -11.4 2.6666666666666665 Benign/Likely benign 0 -45774 Simple 8077577 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -45775 Simple 62073604 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45778 Simple 397517288 AA . Benign 2 2 not specified 2015-03-03 -8.4 4.0 Benign/Likely benign 1 -45780 Simple 76757102 C . Benign/Likely benign 2 6 not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-29 -25.5 2.3333333333333335 Benign 1 -45782 Simple 117556704 G . Benign/Likely benign 2 5 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-29 -23.4 2.0 Benign/Likely benign 0 -45783 Simple 200077093 T . Uncertain significance 2 3 not specified;not provided 2014-10-06 -0.6599999999999999 3.6666666666666665 Uncertain significance 0 -45786 Simple 112369914 TT . Benign 2 2 not specified 2015-03-03 -7.8 4.5 Likely benign 2 -45787 Simple 17049982 T . Benign/Likely benign 2 5 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-07-26 -22.8 2.2 Benign/Likely benign 0 -45791 Simple 11014875 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45792 Simple 3824699 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45793 Simple 3824698 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45794 Simple 3824697 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45796 Simple 35379457 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45797 Simple 3817420 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45798 Simple 3817419 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45800 Simple 146511800 C . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -45801 Simple 41279908 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45803 Simple 33947968 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45804 Simple 3758449 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45806 Simple 34918608 A . Benign 2 2 not specified 2015-09-14 -9.0 3.5 Benign/Likely benign 1 -45807 Simple 16926628 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45808 Simple 3740232 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45809 Simple 3740231 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45811 Simple 1999240 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45817 Simple 12257119 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45818 Simple 56316209 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -45823 Simple 3824700 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -45824 Simple 3852673 T . Benign 2 3 Pheochromocytoma;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -45825 Simple 10281879 A . Benign 2 4 not specified;Cardiomyopathy, dilated, 2b 2017-08-01 -19.2 2.75 Benign/Likely benign 1 -45826 Simple 143082866 G . Benign/Likely benign 2 2 not specified 2015-07-16 -7.800000000000001 2.5 Likely benign 1 -45828 Simple 141932124 A . Benign/Likely benign 2 5 not specified;Cardiomyopathy, dilated, 2b;Cardiovascular phenotype 2017-05-16 -21.9 1.6 Benign/Likely benign 0 -45829 Simple 34768413 T . Benign 2 3 not specified;Cardiomyopathy, dilated, 2b 2017-08-02 -13.8 3.0 Benign/Likely benign 1 -45830 Simple 201627219 T . Benign/Likely benign 2 2 not specified 2014-04-14 -6.9 3.5 Likely benign 1 -45832 Simple 2230408 A . Benign/Likely benign 2 6 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-07-31 -26.4 1.8333333333333333 Benign 1 -45833 Simple 369507567 T . Uncertain significance 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-04-26 -0.48 2.5 Uncertain significance 0 -45837 Simple 149926974 C . Benign/Likely benign 2 5 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-07-13 -21.0 1.8 Benign/Likely benign 0 -45838 Simple 73983658 T . Benign/Likely benign 2 4 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiomyopathy, ARVC 2017-08-10 -15.6 1.75 Benign/Likely benign 0 -45842 Simple 143043662 T . Benign/Likely benign 2 5 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;not provided;Cardiovascular phenotype 2017-08-06 -23.4 1.8 Benign/Likely benign 0 -45843 Simple 116666639 C . Benign/Likely benign 2 4 Naxos disease;not specified;Cardiomyopathy, ARVC 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -45844 Simple 138366708 C . Benign/Likely benign 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-10-27 -9.6 1.6666666666666667 Benign/Likely benign 0 -45845 Simple 7405731 G . Benign/Likely benign 2 4 Naxos disease;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -45846 Simple 141295561 A . Benign/Likely benign 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-05-19 -9.0 3.0 Benign/Likely benign 0 -45847 Simple 151178348 A . Uncertain significance 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Left ventricular noncompaction cardiomyopathy 2017-04-11 -0.87 1.0 Uncertain significance 0 -45848 Simple 200976464 T . Benign/Likely benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-04-06 -8.7 1.0 Benign/Likely benign 0 -45850 Simple 17850807 A . Benign/Likely benign 2 5 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-08 -21.0 1.8 Benign/Likely benign 0 -45851 Simple 41283425 T . Benign/Likely benign 2 7 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-01 -27.6 2.142857142857143 Benign 1 -45852 Simple 113317262 T . Benign/Likely benign 2 4 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype 2017-02-19 -14.7 3.0 Benign/Likely benign 0 -45854 Simple 35297577 A . Benign/Likely benign 2 4 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype 2017-06-21 -14.4 3.25 Benign/Likely benign 0 -45855 Simple 201313464 C . Likely benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2016-05-20 -4.8 3.0 Likely benign 0 -45857 Simple 34890640 A . Benign 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-08-02 -13.8 3.0 Benign/Likely benign 1 -45867 Simple 62622410 A . Benign/Likely benign 2 3 not specified 2016-11-04 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -45872 Simple 1227049 C . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -45875 Simple 10999947 A . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -45882 Simple 61732490 G . Benign 2 1 not specified 2011-10-05 . 6.0 . 0 -45890 Simple 200649500 T . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -45893 Simple 3752752 C . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -45896 Simple 3752751 C . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -45897 Simple 76601590 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -17.4 3.6 Benign/Likely benign 0 -45906 Simple 74702249 A . Benign 2 2 not specified 2015-07-07 -9.600000000000001 3.0 Benign/Likely benign 1 -45908 Simple 143179070 A . Benign 2 2 not specified 2015-04-21 -10.2 2.5 Benign/Likely benign 1 -45912 Simple 200632520 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.08 2.0 Uncertain significance 0 -45923 Simple 80028391 A . Benign 2 2 not specified 2016-11-11 -9.0 3.5 Benign/Likely benign 1 -45924 Simple 73275848 T . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -45925 Simple 111033488 A . Benign 2 2 not specified 2013-11-13 -8.4 4.0 Benign/Likely benign 1 -45927 Simple 41281316 A . Benign 2 2 not specified 2013-09-23 -7.2 6.0 Likely benign 2 -45928 Simple 3802720 C . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -45929 Simple 397517327 T . Pathogenic 2 2 Usher syndrome, type 1D;not provided 2015-06-30 9.0 3.5 Pathogenic/Likely pathogenic 1 -45931 Simple 149073355 G . Benign/Likely benign 2 2 not specified 2015-10-20 -6.9 3.0 Likely benign 1 -45934 Simple 201877610 A . Uncertain significance 2 2 not specified 2017-03-31 -0.54 1.5 Uncertain significance 0 -45936 Simple 41281318 T . Benign 2 2 not specified 2015-09-22 -9.600000000000001 3.0 Benign/Likely benign 1 -45937 Simple 1227065 G . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.0 Benign/Likely benign 0 -45940 Simple 3802719 A . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -45942 Simple 12218559 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -17.4 3.6 Benign/Likely benign 0 -45943 Simple 397517329 T . Pathogenic 2 2 Usher syndrome, type 1D;not provided 2016-12-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -45944 Simple 56181447 A . Benign 2 2 not specified;not provided 2013-02-14 -6.6 6.5 Likely benign 2 -45945 Simple 12218564 C . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -17.4 3.6 Benign/Likely benign 0 -45949 Simple 10999978 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.5 Benign/Likely benign 0 -45955 Simple 1227051 A . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -45957 Simple 41281330 A . Benign 2 2 not specified 2013-11-20 -7.2 5.5 Likely benign 2 -45960 Simple 17712523 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.0 2.75 Benign/Likely benign 0 -45965 Simple 10762480 T . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -17.4 3.6 Benign/Likely benign 0 -45971 Simple 372822465 A . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.75 3.0 Uncertain significance 0 -45974 Simple 111033480 A . Benign 2 1 not specified 2014-10-19 . 3.0 . 0 -45976 Simple 74145660 G . Benign/Likely benign 2 3 not specified;not provided 2015-05-20 -13.200000000000001 3.6666666666666665 Benign/Likely benign 0 -45978 Simple 3802711 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 3.75 Benign/Likely benign 0 -45980 Simple 111033491 A . Uncertain significance 2 2 not specified 2014-08-20 -0.39 5.5 Uncertain significance 0 -45982 Simple 2394839 G . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -45985 Simple 148632119 T . Benign 2 2 not specified 2015-08-26 -10.2 2.5 Benign/Likely benign 1 -45997 Simple 11592462 G . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.5 Benign/Likely benign 0 -46001 Simple 367928692 A . Pathogenic 2 3 Usher syndrome, type 1D;not provided 2016-09-27 16.2 2.0 Pathogenic 0 -46002 Simple 10466026 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -16.8 3.8 Benign/Likely benign 0 -46006 Simple 201887949 A . Benign 2 2 not specified 2015-11-23 -10.8 2.0 Benign/Likely benign 1 -46008 Simple 111033492 T . Likely benign 2 2 not specified 2016-01-22 -5.4 2.0 Likely benign 0 -46013 Simple 111033494 A . Benign 2 2 not specified 2014-09-03 -9.6 3.0 Benign/Likely benign 1 -46016 Simple 76463072 T . Benign/Likely benign 2 2 not specified 2016-10-20 -6.0 3.5 Likely benign 1 -46017 Simple 74144963 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.0 Benign/Likely benign 0 -46019 Simple 41281334 A . Benign/Likely benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -18.0 3.4 Benign/Likely benign 0 -46020 Simple 56013867 C . Benign 2 2 not specified 2016-01-27 -9.0 3.5 Benign/Likely benign 1 -46021 Simple 201434373 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.08 2.0 Uncertain significance 0 -46022 Simple 146819206 A . Benign/Likely benign 2 3 not specified 2017-11-09 -13.8 1.3333333333333333 Benign/Likely benign 0 -46025 Simple 4747193 G . Benign 2 1 not specified 2009-06-12 . 8.0 . 0 -46026 Simple 4747194 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 3.75 Benign/Likely benign 0 -46028 Simple 4747195 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 3.75 Benign/Likely benign 0 -46029 Simple 370983472 A . Likely pathogenic 2 2 Usher syndrome, type 1D;not provided 2017-06-09 5.1 2.0 Likely pathogenic 0 -46032 Simple 41281336 A . Uncertain significance 2 2 not specified 2016-04-12 -0.51 2.5 Uncertain significance 0 -46034 Simple 10823849 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 3.75 Benign/Likely benign 0 -46036 Simple 114819374 C . Benign/Likely benign 2 2 not specified;not provided 2017-04-11 -6.0 3.0 Likely benign 1 -46040 Simple 202052174 A . Uncertain significance 2 3 not specified 2017-04-11 -0.87 1.0 Uncertain significance 0 -46042 Simple 7902757 T . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -46058 Simple 11000009 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.5 Benign/Likely benign 0 -46059 Simple 11000010 T . Benign 2 2 not specified 2014-06-26 -7.8 5.5 Likely benign 2 -46062 Simple 45522532 A . Benign 2 2 not specified 2013-05-12 -7.800000000000001 4.5 Likely benign 2 -46067 Simple 76114420 T . Benign 2 2 not specified 2015-01-21 -9.6 3.0 Benign/Likely benign 1 -46068 Simple 11818398 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 3.75 Benign/Likely benign 0 -46071 Simple 11000013 A . Benign/Likely benign 2 7 Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -33.0 2.0 Benign 1 -46072 Simple 45583140 C . Benign/Likely benign 2 8 Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;not provided;Atypical Gaucher Disease;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -37.2 2.25 Benign 1 -46076 Simple 111033536 T . Uncertain significance 2 2 not specified 2016-11-30 -0.54 2.0 Uncertain significance 0 -46079 Simple 140463385 C . Benign/Likely benign 2 6 Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease 2016-06-14 -19.8 2.1666666666666665 Benign/Likely benign 0 -46080 Simple 2290021 A . Benign/Likely benign 2 9 Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -42.0 2.3333333333333335 Benign 1 -46081 Simple 55717455 T . Benign/Likely benign 2 7 Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease 2016-06-14 -22.8 2.142857142857143 Benign/Likely benign 0 -46082 Simple 73277900 T . Benign 2 5 Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease 2016-06-14 -27.0 2.2 Benign 0 -46083 Simple 199689484 A . Likely benign 2 3 Erythrokeratodermia variabilis;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -7.8 2.3333333333333335 Likely benign 0 -46084 Simple 41310442 T . Benign 2 3 Erythrokeratodermia variabilis;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -46085 Simple 61744512 T . Benign/Likely benign 2 3 Erythrokeratodermia variabilis;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -46087 Simple 35983826 T . Benign 2 4 Erythrokeratodermia variabilis;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -46088 Simple 1805063 T . Benign/Likely benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -18.6 2.0 Benign/Likely benign 0 -46089 Simple 13047838 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -46090 Simple 73372256 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -46091 Simple 4920100 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -46094 Simple 111033261 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -46102 Simple 56264519 T . Likely pathogenic 2 6 Deafness, autosomal recessive 8;Nonsyndromic hearing loss and deafness;not provided 2017-05-18 16.8 1.3333333333333333 Pathogenic 2 -46105 Simple 928302 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 4.5 Likely benign 1 -46107 Simple 45598239 T . Benign 2 3 not specified 2016-01-08 -13.2 4.0 Benign/Likely benign 1 -46114 Simple 201632198 A . Pathogenic/Likely pathogenic 2 5 Deafness, autosomal recessive 8;Nonsyndromic hearing loss and deafness;not provided;Nonsyndromic Hearing Loss, Recessive 2017-05-18 23.4 2.0 Pathogenic 1 -46115 Simple 35227181 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 6.0 Likely benign 1 -46119 Simple 147231991 T . Pathogenic/Likely pathogenic 2 4 Deafness, autosomal recessive 8;Nonsyndromic hearing loss and deafness;not provided;Nonsyndromic Hearing Loss, Recessive 2016-06-14 14.7 1.25 Pathogenic/Likely pathogenic 0 -46121 Simple 8130564 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 4.5 Likely benign 1 -46122 Simple 2839501 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 6.0 Likely benign 1 -46124 Simple 138768408 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -46125 Simple 225431 A . Benign 2 1 not specified 2010-10-20 . 7.0 . 0 -46126 Simple 34966432 TATA . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-08-26 -12.0 4.333333333333333 Benign/Likely benign 0 -46129 Simple 2839500 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 6.0 Likely benign 1 -46133 Simple 115489719 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -46138 Simple 36083134 A . Benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiovascular phenotype 2017-08-03 -21.0 2.0 Benign/Likely benign 1 -46148 Simple 4685076 T . Benign/Likely benign 2 7 not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -27.0 4.285714285714286 Benign 1 -46149 Simple 397517385 A . Uncertain significance 2 2 not specified 2014-09-09 -0.42 4.0 Uncertain significance 0 -46150 Simple 2340917 C . Benign/Likely benign 2 7 not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -27.6 3.7142857142857144 Benign 1 -46151 Simple 397517386 G . Uncertain significance 2 2 not specified 2016-07-06 -0.44999999999999996 3.5 Uncertain significance 0 -46152 Simple 201916031 A . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified 2017-06-19 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -46153 Simple 35028636 T . Benign/Likely benign 2 6 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-07-31 -25.2 3.0 Benign 1 -46154 Simple 35100587 T . Benign/Likely benign 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-15 -21.6 3.2 Benign/Likely benign 0 -46155 Simple 199526104 C . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified 2017-07-18 -0.75 2.3333333333333335 Uncertain significance 0 -46162 Simple 368089478 C . Uncertain significance 2 2 not specified 2017-05-12 -0.44999999999999996 4.0 Uncertain significance 0 -46163 Simple 12954874 C . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -15.600000000000001 3.25 Benign/Likely benign 0 -46165 Simple 183614856 A . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;Cardiovascular phenotype 2017-06-23 -15.0 2.3333333333333335 Benign/Likely benign 1 -46170 Simple 201845641 C . Uncertain significance 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;not provided 2017-04-13 -1.05 2.0 Uncertain significance 0 -46178 Simple 1893963 C . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -15.600000000000001 4.25 Benign/Likely benign 0 -46179 Simple 61731921 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2015-12-19 -0.45 3.5 Uncertain significance 0 -46181 Simple 377700521 T . Uncertain significance 2 2 not specified;Cardiomyopathy, ARVC 2016-06-14 -0.48 3.0 Uncertain significance 0 -46183 Simple 147109895 T . Uncertain significance 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;Cardiovascular phenotype 2017-07-04 -1.2 0.75 Uncertain significance 0 -46184 Simple 61731920 A . Benign/Likely benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2017-08-14 -17.7 2.25 Benign/Likely benign 0 -46190 Simple 373305929 C . Uncertain significance 2 2 not specified 2015-06-10 -0.42000000000000004 4.5 Uncertain significance 0 -46191 Simple 868333 C . Benign/Likely benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-21 -17.4 3.0 Benign/Likely benign 0 -46193 Simple 397517401 AA . Likely benign 2 2 not specified 2016-08-10 -4.8 3.0 Likely benign 0 -46199 Simple 397517406 C . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2012-07-20 5.4 5.0 Likely pathogenic 1 -46203 Simple 35717505 TAATAA . Benign/Likely benign 2 3 Cardiomyopathy;not specified;Cardiomyopathy, ARVC 2016-06-14 -8.7 3.6666666666666665 Benign/Likely benign 0 -46211 Simple 6584410 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -46214 Simple 189993760 T . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -46218 Simple 3735709 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -46220 Simple 34332949 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -46223 Simple 377675706 A . Likely benign 3 2 not specified;Rasopathy 2017-05-09 -7.5 2.0 Likely benign 0 -46226 Simple 192389729 A . Benign 3 3 not specified;Rasopathy 2017-05-09 -15.6 2.3333333333333335 Benign/Likely benign 1 -46227 Simple 374807671 T . Likely benign 2 2 not specified 2015-10-22 -5.1 2.5 Likely benign 0 -46228 Simple 369681843 G . Benign 3 4 not specified;Rasopathy 2017-05-09 -15.0 1.0 Benign/Likely benign 1 -46229 Simple 150942310 A . Benign/Likely benign 2 2 not specified 2014-08-28 -6.9 3.5 Likely benign 1 -46230 Simple 148437150 T . Likely benign 2 2 not specified 2016-04-28 -4.5 5.5 Likely benign 0 -46232 Simple 373579939 A . Uncertain significance 2 3 not specified;Rasopathy 2017-03-03 -0.6599999999999999 3.6666666666666665 Uncertain significance 0 -46235 Simple 369925884 A . Benign 3 2 not specified;Rasopathy 2017-05-09 -12.0 1.0 Benign/Likely benign 1 -46237 Simple 17851657 A . Benign 3 3 not specified;not provided;Rasopathy 2017-05-09 -12.6 5.0 Benign/Likely benign 1 -46239 Simple 150833333 A . Benign 3 4 not specified;Rasopathy 2017-05-09 -14.1 3.5 Benign/Likely benign 1 -46240 Simple 200874968 A . Benign/Likely benign 2 2 not specified 2014-07-31 -6.6 3.5 Likely benign 1 -46241 Simple 372898071 A . Likely benign 2 2 not specified 2016-10-06 -4.5 5.0 Likely benign 0 -46242 Simple 138873805 T . Uncertain significance 3 3 not specified;Rasopathy 2017-05-09 -3.93 3.6666666666666665 Uncertain significance 0 -46243 Simple 397517417 A . Likely benign 2 1 not specified 2008-08-18 . 9.0 . 0 -46244 Simple 10067636 C . Benign 2 3 not specified 2014-06-18 -12.6 4.0 Benign/Likely benign 1 -46248 Simple 2366928 A . Benign/Likely benign 2 2 not specified 2015-01-21 -7.8 5.0 Likely benign 1 -46249 Simple 41311343 C . Benign/Likely benign 2 4 not specified;not provided 2017-06-14 -15.6 3.0 Benign/Likely benign 0 -46251 Simple 116184119 G . Benign/Likely benign 2 2 not specified;not provided 2017-08-02 -6.6 2.5 Likely benign 1 -46252 Simple 17624033 G . Benign/Likely benign 2 3 not specified;not provided 2017-07-11 -13.2 3.3333333333333335 Benign/Likely benign 0 -46253 Simple 75480336 T . Benign/Likely benign 2 2 not specified 2016-11-07 -9.6 3.0 Benign/Likely benign 0 -46256 Simple 34894132 CC . Benign 2 2 not specified 2015-11-22 -9.0 3.5 Benign/Likely benign 1 -46257 Simple 10062026 A . Benign/Likely benign 2 2 not specified 2015-11-22 -8.4 4.5 Benign/Likely benign 0 -46258 Simple 2438349 T . Benign/Likely benign 2 2 not specified 2015-11-22 -8.4 5.0 Benign/Likely benign 0 -46259 Simple 199839743 A . Benign/Likely benign 2 4 not specified;not provided 2016-12-15 -13.2 3.25 Benign/Likely benign 0 -46262 Simple 2460169 A . Benign/Likely benign 2 3 not specified;not provided 2016-06-23 -15.0 2.6666666666666665 Benign/Likely benign 0 -46264 Simple 35092519 A . Benign/Likely benign 2 3 not specified 2017-06-23 -12.6 4.0 Benign/Likely benign 0 -46265 Simple 74632023 T . Benign/Likely benign 2 2 not specified 2016-02-08 -6.300000000000001 3.5 Likely benign 1 -46266 Simple 2438358 G . Benign/Likely benign 2 2 not specified 2013-04-04 -7.800000000000001 4.5 Likely benign 1 -46267 Simple 41311745 T . Benign/Likely benign 2 4 not specified 2017-06-26 -15.9 3.5 Benign/Likely benign 0 -46268 Simple 17554631 G . Benign/Likely benign 2 2 not specified 2016-02-26 -8.4 4.5 Benign/Likely benign 0 -46269 Simple 62000408 C . Benign/Likely benign 2 2 not specified 2014-03-21 -9.0 3.5 Benign/Likely benign 0 -46270 Simple 41304892 A . Benign 2 4 not specified 2015-05-22 -18.0 3.5 Benign/Likely benign 1 -46271 Simple 79464236 G . Benign/Likely benign 2 2 not specified 2013-05-20 -7.800000000000001 4.5 Likely benign 1 -46273 Simple 61731030 G . Benign 2 2 not specified 2015-12-08 -9.0 3.5 Benign/Likely benign 1 -46274 Simple 7729495 C . Benign/Likely benign 2 2 not specified 2013-05-02 -7.800000000000001 4.5 Likely benign 1 -46276 Simple 367826825 T . Uncertain significance 2 2 not specified 2015-07-15 -0.45 3.5 Uncertain significance 0 -46282 Simple 2438374 G . Benign/Likely benign 2 2 not specified 2013-03-06 -7.2 5.0 Likely benign 1 -46283 Simple 41304884 G . Benign 2 3 not specified 2013-08-27 -12.0 4.333333333333333 Benign/Likely benign 1 -46284 Simple 3763073 T . Benign/Likely benign 2 2 not specified 2013-02-27 -6.6 6.0 Likely benign 1 -46285 Simple 2438378 A . Benign/Likely benign 2 2 not specified 2014-07-15 -8.4 4.0 Benign/Likely benign 0 -46286 Simple 6889939 C . Benign/Likely benign 2 2 not specified;not provided 2015-08-26 -9.0 3.5 Benign/Likely benign 0 -46288 Simple 41303350 G . Benign/Likely benign 2 3 not specified;not provided 2016-09-13 -11.4 3.0 Benign/Likely benign 0 -46290 Simple 200789563 T . Uncertain significance 2 3 not specified;not provided 2017-04-30 -0.84 1.3333333333333333 Uncertain significance 0 -46291 Simple 2247870 A . Benign/Likely benign 2 1 not specified 2010-09-02 . 7.0 . 0 -46296 Simple 61749567 C . Benign 2 2 not specified;not provided 2015-06-04 -9.0 3.5 Benign/Likely benign 1 -46297 Simple 142011700 A . Benign/Likely benign 2 3 not specified;not provided 2017-02-22 -9.9 2.6666666666666665 Benign/Likely benign 0 -46298 Simple 77469944 G . Benign/Likely benign 2 3 not specified 2015-07-02 -14.4 3.0 Benign/Likely benign 0 -46299 Simple 7726023 C . Benign/Likely benign 2 2 not specified 2016-09-28 -9.0 3.5 Benign/Likely benign 0 -46300 Simple 13158963 A . Benign/Likely benign 2 3 not specified 2016-02-26 -12.600000000000001 4.666666666666667 Benign/Likely benign 0 -46304 Simple 9293547 C . Benign 2 2 not specified 2014-03-06 -8.4 4.0 Benign/Likely benign 1 -46305 Simple 2366773 T . Benign/Likely benign 2 2 not specified 2013-05-09 -7.2 5.0 Likely benign 1 -46307 Simple 73181640 A . Benign 2 2 not specified 2013-04-30 -7.800000000000001 4.5 Likely benign 2 -46308 Simple 78625945 A . Benign 2 3 not specified;not provided 2016-12-30 -15.6 2.3333333333333335 Benign/Likely benign 1 -46310 Simple 950692 G . Benign/Likely benign 2 2 not specified 2013-03-05 -7.2 5.5 Likely benign 1 -46313 Simple 2366777 T . Benign/Likely benign 2 2 not specified 2014-07-21 -7.8 4.5 Likely benign 1 -46314 Simple 61753944 T . Benign/Likely benign 2 2 not specified 2014-03-21 -8.4 4.0 Benign/Likely benign 0 -46315 Simple 80069610 G . Benign/Likely benign 2 2 not specified 2015-08-12 -9.0 3.5 Benign/Likely benign 0 -46317 Simple 147062294 G . Benign/Likely benign 2 2 not specified 2016-06-27 -6.6 3.0 Likely benign 1 -46318 Simple 188772875 G . Uncertain significance 2 3 not specified;not provided 2017-09-11 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -46319 Simple 16868935 G . Benign/Likely benign 2 3 not specified;not provided 2017-02-22 -13.2 2.0 Benign/Likely benign 0 -46321 Simple 41311333 G . Benign/Likely benign 2 3 not specified 2017-06-14 -10.8 3.0 Benign/Likely benign 0 -46326 Simple 149459739 C . Benign 2 2 not specified 2015-09-28 -8.4 4.0 Benign/Likely benign 1 -46327 Simple 61740119 G . Benign/Likely benign 2 3 not specified 2014-04-21 -10.2 4.0 Benign/Likely benign 0 -46329 Simple 17543819 T . Benign/Likely benign 2 2 not specified;not provided 2013-01-14 -6.6 6.0 Likely benign 1 -46330 Simple 199873924 G . Benign/Likely benign 2 2 not specified 2016-05-26 -6.6 3.0 Likely benign 1 -46331 Simple 72782753 G . Benign/Likely benign 2 3 not specified 2015-05-18 -11.1 3.3333333333333335 Benign/Likely benign 0 -46334 Simple 41303346 A . Benign/Likely benign 2 2 not specified 2013-04-12 -7.800000000000001 4.5 Likely benign 1 -46335 Simple 10067298 G . Benign 2 2 not specified 2013-06-06 -7.800000000000001 4.5 Likely benign 2 -46337 Simple 137853919 T . Benign/Likely benign 2 3 not specified;not provided 2015-01-23 -10.5 4.0 Benign/Likely benign 0 -46339 Simple 17544552 T . Benign/Likely benign 2 2 not specified;not provided 2013-01-14 -6.6 6.0 Likely benign 1 -46341 Simple 61745498 A . Benign/Likely benign 2 3 not specified 2017-02-16 -14.4 3.0 Benign/Likely benign 0 -46342 Simple 41302834 A . Benign/Likely benign 2 3 not specified;not provided 2016-11-07 -11.4 3.0 Benign/Likely benign 0 -46343 Simple 4916684 A . Benign/Likely benign 2 2 not specified 2014-06-26 -7.8 5.0 Likely benign 1 -46344 Simple 41303352 G . Benign/Likely benign 2 3 not specified 2014-04-25 -11.4 5.0 Benign/Likely benign 0 -46345 Simple 4916685 T . Benign/Likely benign 2 2 not specified 2014-06-22 -7.8 5.0 Likely benign 1 -46346 Simple 16868972 T . Benign/Likely benign 2 3 not specified 2014-04-25 -11.4 5.0 Benign/Likely benign 0 -46347 Simple 142013761 T . Benign/Likely benign 2 3 not specified;not provided 2017-02-27 -11.4 3.0 Benign/Likely benign 0 -46350 Simple 16868974 T . Benign/Likely benign 2 3 not specified 2015-12-16 -13.200000000000001 3.6666666666666665 Benign/Likely benign 0 -46352 Simple 190981860 A . Benign 2 2 not specified 2016-02-07 -10.8 2.0 Benign/Likely benign 1 -46354 Simple 200055351 C . Benign 2 2 not specified 2015-10-16 -10.8 2.0 Benign/Likely benign 1 -46356 Simple 10037067 G . Benign/Likely benign 2 1 not specified 2010-03-23 . 7.0 . 0 -46358 Simple 10040165 A . Benign/Likely benign 2 1 not specified 2009-06-19 . 8.0 . 0 -46360 Simple 2366926 G . Benign/Likely benign 2 1 not specified 2007-03-16 . 10.0 . 0 -46361 Simple 111033470 A . Benign 2 2 not specified;not provided 2016-02-21 -10.8 2.0 Benign/Likely benign 1 -46363 Simple 111033452 T . Benign/Likely benign 2 2 not specified 2015-07-20 -6.300000000000001 3.5 Likely benign 1 -46364 Simple 111033429 T . Benign/Likely benign 2 2 not specified 2013-05-13 -7.800000000000001 4.5 Likely benign 1 -46365 Simple 16876822 A . Benign/Likely benign 2 1 not specified 2009-06-26 . 8.0 . 0 -46366 Simple 111033430 G . Benign 2 1 not specified 2013-06-06 . 4.0 . 0 -46367 Simple 148932387 C . Benign 2 2 not specified 2016-06-13 -9.6 3.0 Benign/Likely benign 1 -46368 Simple 77791584 T . Benign/Likely benign 2 2 not specified 2013-04-30 -7.2 5.0 Likely benign 1 -46376 Simple 75191159 G . Benign 2 1 not specified 2013-06-06 . 4.0 . 0 -46377 Simple 201733037 T . Benign/Likely benign 2 3 not specified 2017-06-05 -11.4 2.6666666666666665 Benign/Likely benign 0 -46379 Simple 1878878 G . Benign/Likely benign 2 1 not specified 2009-06-19 . 8.0 . 0 -46380 Simple 79915053 G . Benign/Likely benign 2 3 not specified;not provided 2016-10-27 -14.4 3.0 Benign/Likely benign 0 -46381 Simple 201214794 A . Likely benign 2 3 not specified;not provided 2016-09-15 -8.1 2.0 Likely benign 0 -46382 Simple 139278305 T . Benign/Likely benign 2 2 not specified;not provided 2017-06-12 -6.6 2.5 Likely benign 1 -46384 Simple 116446814 T . Benign 2 2 not specified 2016-01-14 -9.0 3.5 Benign/Likely benign 1 -46387 Simple 16869016 T . Benign/Likely benign 2 2 not specified 2014-04-29 -7.8 6.5 Likely benign 1 -46389 Simple 111033530 A . Benign/Likely benign 2 2 not specified 2013-04-12 -7.2 5.0 Likely benign 1 -46390 Simple 6880570 G . Benign/Likely benign 2 2 not specified 2013-01-08 -6.6 6.5 Likely benign 1 -46396 Simple 201586455 C . Benign/Likely benign 2 4 not specified 2015-11-23 -16.2 3.25 Benign/Likely benign 0 -46397 Simple 377585302 C . Benign/Likely benign 2 2 not specified 2014-12-19 -7.199999999999999 3.0 Likely benign 1 -46400 Simple 73175207 A . Benign/Likely benign 2 2 not specified 2014-02-10 -7.2 5.0 Likely benign 1 -46404 Simple 200792658 A . Uncertain significance 2 3 not specified;not provided 2017-04-30 -0.84 1.3333333333333333 Uncertain significance 0 -46406 Simple 199499672 A . Uncertain significance 2 2 not specified 2015-10-20 -0.45 3.5 Uncertain significance 0 -46407 Simple 16869032 A . Benign/Likely benign 2 2 not specified 2013-01-08 -6.6 6.0 Likely benign 1 -46408 Simple 16869039 T . Benign/Likely benign 2 2 not specified 2015-10-08 -10.2 2.5 Benign/Likely benign 0 -46409 Simple 16869042 G . Benign/Likely benign 2 3 not specified 2016-01-05 -13.8 3.6666666666666665 Benign/Likely benign 0 -46410 Simple 148123045 A . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.39 4.5 Uncertain significance 0 -46411 Simple 77320474 A . Benign 2 3 Left ventricular noncompaction 1;not specified 2017-07-26 -14.4 2.6666666666666665 Benign/Likely benign 1 -46413 Simple 397517443 A . Likely benign 2 3 Left ventricular noncompaction 1;not specified 2017-07-31 -7.8 1.6666666666666667 Likely benign 0 -46416 Simple 1617318 A . Benign 2 3 not specified;Left ventricular noncompaction cardiomyopathy 2016-06-14 -13.2 3.6666666666666665 Benign/Likely benign 1 -46417 Simple 192561043 T . Benign/Likely benign 2 2 not specified 2015-03-20 -7.5 2.5 Likely benign 1 -46418 Simple 9959365 A . Benign 2 2 not specified 2014-06-03 -8.4 4.0 Benign/Likely benign 1 -46420 Simple 138590000 C . Benign 2 2 not specified 2014-03-14 -7.8 4.5 Likely benign 2 -46423 Simple 147759402 T . Benign 2 3 Left ventricular noncompaction 1;not specified 2017-05-07 -14.4 2.6666666666666665 Benign/Likely benign 1 -46424 Simple 146923532 G . Benign/Likely benign 2 4 Left ventricular noncompaction 1;not specified;Left ventricular noncompaction cardiomyopathy 2017-07-22 -17.4 2.25 Benign/Likely benign 0 -46425 Simple 368000651 A . Likely benign 2 3 Left ventricular noncompaction 1;not specified 2017-03-09 -7.5 2.3333333333333335 Likely benign 0 -46426 Simple 11877640 T . Benign 2 3 Left ventricular noncompaction 1;not specified 2017-07-31 -14.4 2.6666666666666665 Benign/Likely benign 1 -46427 Simple 397517447 T . Likely benign 2 2 not specified;Left ventricular noncompaction cardiomyopathy 2016-06-14 -5.4 2.0 Likely benign 0 -46428 Simple 114170541 T . Benign 2 3 Left ventricular noncompaction 1;not specified 2017-06-27 -14.4 2.6666666666666665 Benign/Likely benign 1 -46429 Simple 61737438 T . Benign 2 3 Left ventricular noncompaction 1;not specified 2017-06-27 -15.0 2.3333333333333335 Benign/Likely benign 1 -46430 Simple 41274310 C . Benign/Likely benign 2 4 Left ventricular noncompaction 1;not specified;Left ventricular noncompaction cardiomyopathy 2017-07-25 -16.5 1.5 Benign/Likely benign 0 -46432 Simple 397517448 C . Uncertain significance 2 3 Left ventricular noncompaction 1;not specified;Left ventricular noncompaction cardiomyopathy 2016-10-09 -0.78 2.3333333333333335 Uncertain significance 0 -46434 Simple 111033436 A . Benign 2 2 not specified 2013-08-14 -7.2 5.5 Likely benign 2 -46436 Simple 10825269 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.8 3.25 Benign/Likely benign 0 -46439 Simple 7921598 G . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -46440 Simple 4935502 G . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -46441 Simple 150509146 T . Uncertain significance 2 2 not specified 2017-06-01 -0.54 1.5 Uncertain significance 0 -46444 Simple 41274636 C . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.5 Benign/Likely benign 0 -46447 Simple 61730754 T . Benign 2 1 not specified 2011-12-07 . 6.0 . 0 -46450 Simple 375855445 G . Uncertain significance 2 2 not specified 2016-10-28 -0.5700000000000001 1.5 Uncertain significance 0 -46456 Simple 2135720 T . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -46459 Simple 139087859 C . Likely benign 2 2 not specified 2015-12-21 -4.2 4.0 Likely benign 0 -46464 Simple 202033121 A . Pathogenic/Likely pathogenic 2 3 Deafness, autosomal recessive 23;Usher syndrome, type 1D;Usher syndrome, type 1F 2017-05-18 11.4 3.0 Pathogenic/Likely pathogenic 0 -46466 Simple 111739360 A . Benign 2 3 not specified 2016-10-10 -14.4 3.0 Benign/Likely benign 1 -46467 Simple 143570915 T . Benign/Likely benign 2 2 not specified 2016-08-03 -8.4 1.5 Benign/Likely benign 0 -46472 Simple 75248212 T . Benign 2 2 not specified 2013-06-01 -7.800000000000001 4.5 Likely benign 2 -46476 Simple 7089209 A . Benign 2 1 not specified 2010-10-29 . 7.0 . 0 -46477 Simple 61731387 T . Benign/Likely benign 2 4 not specified;not provided 2017-02-24 -14.1 2.75 Benign/Likely benign 0 -46482 Simple 10825114 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.5 Benign/Likely benign 0 -46492 Simple 58461416 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -14.4 2.75 Benign/Likely benign 0 -46499 Simple 111033463 T . Benign/Likely benign 2 3 Usher syndrome, type 1F;not specified 2015-10-30 -10.5 2.3333333333333335 Benign/Likely benign 0 -46500 Simple 114137983 A . Benign/Likely benign 2 2 not specified 2015-07-10 -6.300000000000001 3.5 Likely benign 1 -46502 Simple 112097891 T . Benign/Likely benign 2 2 not specified 2017-06-05 -6.0 3.0 Likely benign 1 -46504 Simple 11004439 C . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -46506 Simple 191736346 A . Benign/Likely benign 2 2 not specified 2015-10-09 -7.800000000000001 2.5 Likely benign 1 -46507 Simple 79854148 C . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.8 3.0 Benign/Likely benign 0 -46509 Simple 145232643 A . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -46511 Simple 10740579 A . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -46518 Simple 6089088 T . Benign/Likely benign 2 4 Familial hypertrophic cardiomyopathy 1;not specified;Hypertrophic cardiomyopathy 2017-07-31 -16.8 2.5 Benign/Likely benign 0 -46519 Simple 397517472 A . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 1;not specified 2017-09-15 -0.87 1.0 Uncertain significance 0 -46523 Simple 115398036 A . Benign/Likely benign 2 4 Familial hypertrophic cardiomyopathy 1;not specified;Hypertrophic cardiomyopathy 2017-06-21 -16.8 2.5 Benign/Likely benign 0 -46527 Simple 3746597 T . Benign 2 2 Familial hypertrophic cardiomyopathy 1;not specified 2017-06-21 -9.6 2.5 Benign/Likely benign 1 -46528 Simple 6058469 C . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -46531 Simple 74377241 A . Benign/Likely benign 2 2 not specified 2015-04-24 -7.2 3.5 Likely benign 1 -46532 Simple 368367319 C . Likely benign 2 2 not specified 2017-10-05 -4.8 2.5 Likely benign 0 -46535 Simple 149375325 A . Likely benign 2 3 Long QT syndrome;not specified 2017-11-08 -7.8 1.6666666666666667 Likely benign 0 -46536 Simple 139985460 T . Benign/Likely benign 2 5 Long QT syndrome;not specified;Cardiovascular phenotype 2017-08-08 -16.8 2.8 Benign/Likely benign 0 -46537 Simple 376749605 A . Likely benign 2 2 Long QT syndrome;not specified 2017-08-04 -4.8 2.5 Likely benign 0 -46538 Simple 4362222 T . Benign 2 2 not specified;Rasopathy 2014-01-17 -7.800000000000001 4.5 Likely benign 2 -46540 Simple 200970347 T . Likely benign 2 2 not specified 2016-02-25 -4.2 4.5 Likely benign 0 -46545 Simple 34561376 A . Benign/Likely benign 2 3 Bartter's syndrome;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -46546 Simple 78904893 A . Benign/Likely benign 2 3 Bartter's syndrome;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -46553 Simple 33938617 A . Benign/Likely benign 2 3 Bartter syndrome type 4;Bartter's syndrome;not specified 2017-06-02 -12.6 2.0 Benign/Likely benign 0 -46554 Simple 2744507 T . Benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-10-03 -39.6 1.5714285714285714 Benign 0 -46555 Simple 3129201 G . Benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -39.6 1.5714285714285714 Benign 0 -46557 Simple 41266697 A . Benign/Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-05-05 -21.6 1.4285714285714286 Benign/Likely benign 0 -46558 Simple 1799908 A . Benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -39.6 1.5714285714285714 Benign 0 -46559 Simple 117237998 T . Benign/Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -23.4 1.8571428571428572 Benign/Likely benign 0 -46560 Simple 970901 T . Benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -45.6 1.5 Benign 0 -46561 Simple 2855430 A . Benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-10-03 -45.0 1.625 Benign 0 -46562 Simple 2229785 G . Benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -45.0 1.625 Benign 0 -46563 Simple 397517477 - . Benign/Likely benign 2 3 not specified 2017-08-28 -11.4 2.6666666666666665 Benign/Likely benign 0 -46564 Simple 2855436 G . Benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -39.6 1.5714285714285714 Benign 0 -46565 Simple 1799910 T . Benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -39.6 1.5714285714285714 Benign 0 -46566 Simple 2855437 A . Benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -45.6 1.5 Benign 0 -46567 Simple 2229784 T . Benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-10-06 -39.6 1.5714285714285714 Benign 0 -46568 Simple 2229792 A . Benign/Likely benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-10-05 -30.6 1.5 Benign 1 -46569 Simple 9277934 T . Benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -39.6 1.5714285714285714 Benign 0 -46570 Simple 1799907 T . Benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -45.0 1.625 Benign 0 -46571 Simple 8113232 A . Benign 2 2 not specified 2016-02-26 -9.0 3.5 Benign/Likely benign 1 -46572 Simple 10426399 T . Benign 2 2 not specified 2016-03-21 -9.6 3.0 Benign/Likely benign 1 -46573 Simple 193212275 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-09-12 -0.51 2.5 Uncertain significance 0 -46574 Simple 147293964 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-03-24 -13.5 2.0 Benign/Likely benign 0 -46575 Simple 397517478 A . Uncertain significance 2 2 not specified 2015-12-22 -0.54 2.0 Uncertain significance 0 -46576 Simple 72647846 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -44.4 2.25 Benign 1 -46578 Simple 34819099 T . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-02 -21.6 3.6 Benign/Likely benign 1 -46579 Simple 115985443 T . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-09 -25.5 2.6666666666666665 Benign 1 -46580 Simple 183336802 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-25 -13.2 2.0 Benign/Likely benign 0 -46581 Simple 45447891 A . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-26 -22.5 3.5 Benign/Likely benign 0 -46582 Simple 2291310 T . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -40.8 2.8333333333333335 Benign 1 -46584 Simple 202017278 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-12-24 -0.75 2.6666666666666665 Uncertain significance 0 -46585 Simple 55906845 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-23 -0.51 2.0 Uncertain significance 0 -46586 Simple 2742347 T . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -40.8 2.8333333333333335 Benign 1 -46587 Simple 56128843 G . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -43.8 2.3333333333333335 Benign 1 -46588 Simple 373378672 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-14 -0.78 2.0 Uncertain significance 0 -46589 Simple 184307461 A . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-05 -8.7 1.0 Benign/Likely benign 1 -46590 Simple 2742348 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46591 Simple 72648923 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-08-03 -21.3 3.0 Benign/Likely benign 0 -46592 Simple 184740744 T . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -52.2 1.6153846153846154 Benign 1 -46593 Simple 373875040 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -23.1 2.2 Benign/Likely benign 0 -46595 Simple 72648927 C . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-03 -52.2 1.8461538461538463 Benign 1 -46596 Simple 369933152 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-20 -0.69 3.0 Uncertain significance 0 -46598 Simple 72648929 T . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-19 -33.9 1.5 Benign 1 -46602 Simple 201185434 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-24 -14.1 1.5 Benign/Likely benign 0 -46604 Simple 72648931 C . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-29 -25.8 2.2 Benign 0 -46605 Simple 200052202 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-29 -0.48 3.0 Uncertain significance 0 -46606 Simple 72648932 T . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -35.4 2.0 Benign 1 -46607 Simple 12993099 G . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.0 2.5 Benign 1 -46608 Simple 66839174 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -19.2 1.75 Benign/Likely benign 0 -46609 Simple 375179152 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -23.7 2.0 Benign/Likely benign 0 -46611 Simple 368897883 G . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -22.5 1.6 Benign/Likely benign 0 -46612 Simple 72648935 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -39.0 2.272727272727273 Benign 1 -46616 Simple 371026448 C . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -23.1 2.2 Benign/Likely benign 0 -46617 Simple 72648939 C . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -44.1 2.0 Benign 1 -46619 Simple 10200398 A . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-28 -25.8 2.0 Benign 0 -46623 Simple 141687561 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-21 -15.9 2.0 Benign/Likely benign 0 -46625 Simple 72648943 A . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-22 -1.1400000000000001 1.0 Uncertain significance 0 -46626 Simple 200692495 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-24 -14.1 1.5 Benign/Likely benign 0 -46629 Simple 72647848 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -37.2 1.7 Benign 1 -46631 Simple 72648944 C . Benign/Likely benign 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -33.0 1.4444444444444444 Benign 1 -46636 Simple 376012117 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-01-30 -0.45 3.5 Uncertain significance 0 -46637 Simple 375032616 T . Likely benign 2 2 not specified 2017-07-21 -4.8 2.5 Likely benign 0 -46638 Simple 66523653 A . Benign/Likely benign 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -31.8 1.6666666666666667 Benign 1 -46639 Simple 370684491 G . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -23.7 2.0 Benign/Likely benign 0 -46640 Simple 191692293 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-16 -11.1 1.6666666666666667 Benign/Likely benign 0 -46641 Simple 72647851 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -39.0 2.272727272727273 Benign 1 -46642 Simple 369544339 G . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -1.41 1.2 Uncertain significance 0 -46647 Simple 397517488 T . Uncertain significance 2 2 not specified 2013-01-07 -0.32999999999999996 5.5 Uncertain significance 0 -46649 Simple 72648950 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-10 -40.2 2.090909090909091 Benign 1 -46651 Simple 72648951 C . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -41.4 1.9090909090909092 Benign 1 -46653 Simple 72648953 T . Benign/Likely benign 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-08-09 -25.5 1.1428571428571428 Benign 1 -46655 Simple 72648954 C . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -44.4 2.25 Benign 1 -46656 Simple 11888217 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46662 Simple 397517492 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-25 -13.5 2.0 Benign/Likely benign 0 -46663 Simple 397517493 T . Uncertain significance 2 2 not specified 2016-12-21 -0.44999999999999996 3.5 Uncertain significance 0 -46664 Simple 16866475 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-27 -22.8 3.2 Benign/Likely benign 0 -46665 Simple 373842558 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -23.7 2.0 Benign/Likely benign 0 -46666 Simple 28626194 T . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-06-10 -24.6 2.6 Benign 0 -46668 Simple 202108224 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -13.2 2.25 Benign/Likely benign 0 -46672 Simple 17355460 T . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-08 -21.6 3.6 Benign/Likely benign 1 -46673 Simple 397517495 T . Uncertain significance 2 2 not specified 2017-09-06 -0.51 2.0 Uncertain significance 0 -46674 Simple 369993514 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-10 -9.9 2.6666666666666665 Benign/Likely benign 0 -46677 Simple 17355446 A . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.0 2.5 Benign 1 -46679 Simple 114626713 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-28 -18.0 3.25 Benign/Likely benign 1 -46680 Simple 72648960 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -45.0 2.1666666666666665 Benign 1 -46681 Simple 72648962 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -44.4 2.25 Benign 1 -46682 Simple 72648964 T . Benign/Likely benign 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-04 -29.7 2.857142857142857 Benign 1 -46685 Simple 147081804 G . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-16 -8.1 2.0 Likely benign 1 -46686 Simple 191057824 T . Uncertain significance 2 2 not specified 2016-08-30 -0.48 3.0 Uncertain significance 0 -46687 Simple 35683768 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -43.8 2.3333333333333335 Benign 1 -46689 Simple 397517497 T . Likely pathogenic 2 3 Primary dilated cardiomyopathy;Muscular dystrophy;not provided 2017-06-18 7.2 2.6666666666666665 Likely pathogenic 0 -46690 Simple 187925021 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-03 -43.8 1.6666666666666667 Benign 1 -46693 Simple 34562585 C . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-08 -22.2 3.4 Benign/Likely benign 0 -46695 Simple 16866473 G . Benign/Likely benign 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -28.8 2.3333333333333335 Benign 1 -46696 Simple 397517500 A . Uncertain significance 2 2 not specified 2014-02-21 -0.39 4.5 Uncertain significance 0 -46698 Simple 12693166 G . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46699 Simple 183482849 T . Uncertain significance 2 2 not specified 2017-05-03 -0.54 1.5 Uncertain significance 0 -46702 Simple 16866469 G . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -34.8 2.1 Benign 1 -46704 Simple 187182557 A . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-24 -17.4 0.6666666666666666 Benign/Likely benign 1 -46705 Simple 72648970 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -39.0 2.272727272727273 Benign 1 -46706 Simple 397517502 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-11 -0.48 3.0 Uncertain significance 0 -46708 Simple 16866467 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-27 -22.8 3.2 Benign/Likely benign 0 -46710 Simple 2562830 G . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46712 Simple 72648971 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-12 -15.3 2.5 Benign/Likely benign 0 -46713 Simple 17452588 A . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-20 -54.6 1.6153846153846154 Benign 1 -46714 Simple 2562831 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -46715 Simple 72648972 C . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-06-06 -26.7 2.3333333333333335 Benign 1 -46716 Simple 73038337 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-04 -21.9 2.8 Benign/Likely benign 0 -46719 Simple 144032104 T . Uncertain significance 2 2 not specified 2016-06-28 -0.48 3.0 Uncertain significance 0 -46722 Simple 201766927 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-31 -21.3 3.0 Benign/Likely benign 0 -46723 Simple 200598509 A . Uncertain significance 2 4 not specified;not provided 2017-04-19 -0.9299999999999999 3.0 Uncertain significance 0 -46724 Simple 199576800 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-02 -4.8 3.0 Likely benign 0 -46726 Simple 72648976 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-26 -16.8 3.75 Benign/Likely benign 1 -46727 Simple 182425565 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -16.8 2.75 Benign/Likely benign 0 -46728 Simple 397517505 A . Benign/Likely benign 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -26.4 1.25 Benign 1 -46729 Simple 397517506 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-13 -0.48 2.5 Uncertain significance 0 -46731 Simple 16866465 G . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -46732 Simple 397517507 T . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2015-02-03 -0.69 3.3333333333333335 Uncertain significance 0 -46734 Simple 72648978 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -39.6 2.272727272727273 Benign 1 -46739 Simple 72648980 C . Benign/Likely benign 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-06-19 -25.8 3.2857142857142856 Benign 1 -46740 Simple 377762626 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-08 -0.44999999999999996 3.5 Uncertain significance 0 -46741 Simple 72648981 T . Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-10 -10.5 2.0 Benign/Likely benign 1 -46742 Simple 72648982 C . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -39.0 2.272727272727273 Benign 1 -46743 Simple 72648983 T . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -35.4 2.0 Benign 1 -46744 Simple 397517511 T . Uncertain significance 2 2 not specified 2014-07-08 -0.42 4.0 Uncertain significance 0 -46745 Simple 72648984 C . Benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-02 -31.200000000000003 2.1666666666666665 Benign 0 -46747 Simple 116378128 A . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-31 -14.4 2.6666666666666665 Benign/Likely benign 1 -46748 Simple 397517512 G . Likely benign 2 2 not specified 2017-10-16 -4.5 3.0 Likely benign 0 -46749 Simple 397517513 C . Uncertain significance 2 2 not specified 2017-10-16 -0.48 2.5 Uncertain significance 0 -46750 Simple 2627043 T . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -40.8 2.8333333333333335 Benign 1 -46751 Simple 397517514 T . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-13 -8.7 1.3333333333333333 Benign/Likely benign 1 -46753 Simple 371819104 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -15.0 2.75 Benign/Likely benign 0 -46754 Simple 201432372 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -14.4 1.25 Benign/Likely benign 0 -46755 Simple 374570732 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-18 -9.3 3.0 Benign/Likely benign 0 -46756 Simple 13390491 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -46757 Simple 138362885 C . Likely benign 2 2 not specified 2016-12-22 -4.8 3.0 Likely benign 0 -46758 Simple 72648986 T . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -46.8 2.6153846153846154 Benign 1 -46761 Simple 199619070 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-12 -0.44999999999999996 3.0 Uncertain significance 0 -46763 Simple 2562832 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -43.8 2.3333333333333335 Benign 1 -46766 Simple 2742329 G . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.6 2.4 Benign 1 -46769 Simple 10183237 A . Benign/Likely benign 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -24.6 2.125 Benign 1 -46773 Simple 2562836 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -46774 Simple 6715406 T . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -46775 Simple 16866457 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -37.2 2.090909090909091 Benign 1 -46776 Simple 2562838 C . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -46777 Simple 12693164 C . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46778 Simple 200088963 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-31 -16.8 1.75 Benign/Likely benign 0 -46782 Simple 72648990 A . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-18 -1.1400000000000001 1.25 Uncertain significance 0 -46784 Simple 2562839 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46786 Simple 13398235 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46788 Simple 397517519 - . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-09 -13.8 1.0 Benign/Likely benign 0 -46789 Simple 71393436 ACAAAACAAA . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.6 1.5 Benign 1 -46791 Simple 376982715 G . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-05 -1.08 1.75 Uncertain significance 0 -46792 Simple 61232800 C . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -39.6 2.1818181818181817 Benign 1 -46796 Simple 368297438 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-12 -0.78 2.0 Uncertain significance 0 -46797 Simple 369313128 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-25 -4.8 3.0 Likely benign 0 -46798 Simple 397517523 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2013-01-13 -0.32999999999999996 5.5 Uncertain significance 0 -46800 Simple 182355009 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-23 -15.9 2.25 Benign/Likely benign 0 -46805 Simple 35813871 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46808 Simple 72648998 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -39.0 2.272727272727273 Benign 1 -46810 Simple 200917885 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -1.98 1.5714285714285714 Uncertain significance 0 -46811 Simple 201121983 T . Uncertain significance 2 3 not specified;not provided 2013-06-24 -0.6 4.333333333333333 Uncertain significance 0 -46812 Simple 2742332 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -43.8 2.3333333333333335 Benign 1 -46814 Simple 397517530 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-29 -0.48 3.0 Uncertain significance 0 -46816 Simple 200049911 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-25 -5.7 1.0 Likely benign 0 -46817 Simple 72649002 T . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-07-27 -24.0 3.0 Benign 1 -46818 Simple 4893852 G . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46819 Simple 72650003 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -41.4 1.9090909090909092 Benign 1 -46822 Simple 143352892 G . Benign 2 2 not specified 2015-02-25 -8.4 4.0 Benign/Likely benign 1 -46823 Simple 2742343 G . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.6 2.4 Benign 1 -46824 Simple 370962244 A . Uncertain significance 2 3 not specified 2015-07-28 -0.75 2.6666666666666665 Uncertain significance 0 -46825 Simple 2742344 T . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.6 2.4 Benign 1 -46826 Simple 72650006 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -43.2 2.4166666666666665 Benign 1 -46831 Simple 74324101 C . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-16 -19.2 2.75 Benign/Likely benign 1 -46834 Simple 147524531 A . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-31 -24.0 2.8 Benign 0 -46835 Simple 199848546 C . Benign/Likely benign 2 2 not specified 2014-01-20 -6.0 4.5 Likely benign 1 -46836 Simple 367901929 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-20 -7.8 2.5 Likely benign 1 -46837 Simple 200593368 A . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-24 -2.82 1.5 Uncertain significance 0 -46838 Simple 397517532 AA . Benign/Likely benign 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-02-16 -30.3 1.7777777777777777 Benign 1 -46844 Simple 73038324 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -44.4 2.25 Benign 1 -46848 Simple 72650019 T . Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-06 -13.200000000000001 2.0 Benign/Likely benign 1 -46849 Simple 6749719 G . Uncertain significance 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-27 -0.72 2.6666666666666665 Uncertain significance 0 -46851 Simple 55892860 G . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -36.6 1.8 Benign 1 -46852 Simple 2042995 C . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46858 Simple 200213832 C . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-12 -1.05 2.0 Uncertain significance 0 -46859 Simple 2244492 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46861 Simple 369265969 T . Benign/Likely benign 2 2 not specified 2015-03-18 -7.5 2.5 Likely benign 1 -46863 Simple 72650028 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -40.2 2.090909090909091 Benign 1 -46865 Simple 79232842 T . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-03 -19.2 2.75 Benign/Likely benign 1 -46866 Simple 16866434 C . Benign/Likely benign 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -25.8 1.875 Benign 1 -46868 Simple 72650030 A . Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-26 -10.8 1.75 Benign/Likely benign 1 -46870 Simple 375742678 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-10-23 -13.5 1.75 Benign/Likely benign 0 -46874 Simple 116676813 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-03 -39.6 2.1818181818181817 Benign 1 -46875 Simple 397517542 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-03 -7.5 3.0 Likely benign 1 -46876 Simple 148231130 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-08 -13.8 3.0 Benign/Likely benign 0 -46877 Simple 72650032 G . Benign/Likely benign 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-05-26 -31.5 1.7142857142857142 Benign 1 -46878 Simple 73973137 A . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-31 -23.4 3.0 Benign/Likely benign 1 -46881 Simple 397517544 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-25 -0.48 3.0 Uncertain significance 0 -46883 Simple 72650035 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-05-16 -0.6599999999999999 3.3333333333333335 Uncertain significance 0 -46884 Simple 115744476 C . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-02 -21.0 3.2 Benign/Likely benign 0 -46885 Simple 56310516 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-10 -36.0 1.9 Benign 1 -46886 Simple 36051007 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -46887 Simple 72650039 G . Benign/Likely benign 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-28 -32.4 1.5555555555555556 Benign 1 -46888 Simple 72650040 G . Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-17 -10.2 2.25 Benign/Likely benign 1 -46890 Simple 190604150 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-01-07 -11.4 3.5 Benign/Likely benign 0 -46891 Simple 72650042 C . Benign 2 2 not specified 2013-04-26 -7.800000000000001 4.5 Likely benign 2 -46892 Simple 148269839 C . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-14 -1.08 1.75 Uncertain significance 0 -46894 Simple 35112591 T . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.0 2.5 Benign 1 -46895 Simple 376874956 T . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.25 1.625 Uncertain significance 0 -46897 Simple 375714279 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-03 -4.8 2.5 Likely benign 0 -46900 Simple 397517548 . . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-23 -0.54 2.0 Uncertain significance 0 -46902 Simple 74930148 T . Benign/Likely benign 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -25.8 1.875 Benign 1 -46905 Simple 397517551 A . Likely benign 2 2 not specified 2017-07-10 -4.8 2.5 Likely benign 0 -46906 Simple 201167067 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-25 -19.2 2.0 Benign/Likely benign 0 -46907 Simple 55863869 G . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.0 2.5 Benign 1 -46911 Simple 59887778 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-31 -45.6 2.0833333333333335 Benign 1 -46913 Simple 72647868 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -0.78 2.0 Uncertain significance 0 -46915 Simple 200992277 A . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-08-11 -1.02 2.25 Uncertain significance 0 -46916 Simple 192464868 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-23 -18.6 2.25 Benign/Likely benign 0 -46917 Simple 73038314 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -40.2 2.090909090909091 Benign 1 -46918 Simple 397517553 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-28 -12.9 2.5 Benign/Likely benign 0 -46919 Simple 397517554 G . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-02 -22.5 1.2 Benign/Likely benign 0 -46924 Simple 201035457 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-18 -1.17 1.0 Uncertain significance 0 -46929 Simple 72650066 C . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -45.6 2.0833333333333335 Benign 1 -46930 Simple 72650067 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -21.0 2.0 Benign/Likely benign 1 -46932 Simple 139512154 . . Benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-04 -28.2 3.0 Benign 0 -46936 Simple 370597107 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-22 -12.0 1.75 Benign/Likely benign 0 -46940 Simple 141768043 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-26 -4.5 3.5 Likely benign 0 -46942 Simple 193191368 G . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-11 -17.4 1.0 Benign/Likely benign 1 -46946 Simple 55847232 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -39.6 2.1818181818181817 Benign 1 -46950 Simple 369128249 G . Benign/Likely benign 2 2 not specified 2015-06-27 -7.2 3.5 Likely benign 1 -46951 Simple 140002940 G . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-21 -24.6 2.4 Benign 0 -46952 Simple 2288563 C . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -43.8 2.3333333333333335 Benign 1 -46954 Simple 150612172 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-18 -36.0 1.9 Benign 1 -46956 Simple 369623392 G . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-01-24 -1.1099999999999999 1.75 Uncertain significance 0 -46959 Simple 16866425 C . Benign/Likely benign 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -28.2 2.4444444444444446 Benign 1 -46960 Simple 397517568 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-14 -0.51 2.0 Uncertain significance 0 -46963 Simple 6723526 C . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -39.0 2.3636363636363638 Benign 1 -46964 Simple 397517571 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-18 -0.5700000000000001 1.5 Uncertain significance 0 -46968 Simple 56034831 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -39.0 2.272727272727273 Benign 1 -46969 Simple 373491468 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-09 -1.05 2.0 Uncertain significance 0 -46970 Simple 16866423 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -41.4 1.9090909090909092 Benign 1 -46971 Simple 12471771 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -41.1 2.4166666666666665 Benign 1 -46972 Simple 181189778 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-07 -1.05 1.75 Uncertain significance 0 -46973 Simple 10497520 C . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -42.0 2.6666666666666665 Benign 1 -46977 Simple 397517577 C . Uncertain significance 2 2 not specified 2015-06-05 -0.48 3.0 Uncertain significance 0 -46981 Simple 372609980 A . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -16.2 1.6666666666666667 Benign/Likely benign 1 -46982 Simple 144668626 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-08-11 -23.7 2.2 Benign/Likely benign 0 -46983 Simple 114331773 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -39.6 2.1818181818181817 Benign 1 -46985 Simple 2291308 C . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.0 2.5 Benign 1 -46987 Simple 17354992 T . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-28 -54.0 1.6923076923076923 Benign 1 -46990 Simple 61004744 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -36.0 1.9 Benign 1 -46993 Simple 2303829 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -39.6 2.1818181818181817 Benign 1 -46995 Simple 397517583 G . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -46998 Simple 397517585 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-02 -0.48 3.0 Uncertain significance 0 -46999 Simple 147703145 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-17 -9.6 2.6666666666666665 Benign/Likely benign 0 -47000 Simple 200042932 T . Uncertain significance 2 2 not specified 2017-03-31 -0.51 2.0 Uncertain significance 0 -47001 Simple 1552280 A . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -42.0 2.6666666666666665 Benign 1 -47002 Simple 145520397 A . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-10 -19.5 2.6666666666666665 Benign/Likely benign 0 -47004 Simple 397517587 T . Likely pathogenic 2 2 Primary dilated cardiomyopathy 2014-10-08 4.5 3.5 Likely pathogenic 0 -47005 Simple 397517588 G . Uncertain significance 2 2 not specified 2015-06-29 -0.45 3.5 Uncertain significance 0 -47011 Simple 114145817 T . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -36.0 1.9 Benign 1 -47014 Simple 55757622 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -36.0 1.9 Benign 1 -47017 Simple 397517590 C . Uncertain significance 2 2 not specified 2017-01-20 -0.44999999999999996 3.5 Uncertain significance 0 -47018 Simple 36021856 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-18 -46.8 1.9166666666666667 Benign 1 -47022 Simple 2288565 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-27 -39.0 1.4 Benign 1 -47026 Simple 72677244 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -38.4 2.3636363636363638 Benign 1 -47028 Simple 146163169 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -20.400000000000002 2.25 Benign/Likely benign 1 -47030 Simple 202094100 A . Uncertain significance 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-09-18 -3.15 1.2727272727272727 Uncertain significance 0 -47031 Simple 74321406 G . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-18 -36.6 1.8 Benign 1 -47032 Simple 16866531 C . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -39.0 2.272727272727273 Benign 1 -47034 Simple 138506461 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-04 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -47035 Simple 2115558 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -39.0 2.272727272727273 Benign 1 -47037 Simple 36043230 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -38.4 2.3636363636363638 Benign 1 -47038 Simple 376917681 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-24 -12.6 3.0 Benign/Likely benign 0 -47039 Simple 397517598 A . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-12 -7.8 2.0 Likely benign 0 -47040 Simple 72647875 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-31 -39.6 2.1818181818181817 Benign 1 -47043 Simple 374672630 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2016-09-12 -12.0 3.25 Benign/Likely benign 0 -47046 Simple 72647876 G . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-25 -27.6 3.1666666666666665 Benign 1 -47049 Simple 142317580 G . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -52.2 1.6153846153846154 Benign 1 -47050 Simple 719202 C . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -37.2 1.7 Benign 1 -47053 Simple 16866412 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -43.2 2.4166666666666665 Benign 1 -47056 Simple 2288566 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -39.6 2.1818181818181817 Benign 1 -47059 Simple 139789997 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-01 -15.3 2.75 Benign/Likely benign 0 -47063 Simple 719201 A . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.0 2.5 Benign 1 -47065 Simple 2303831 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -39.6 2.1818181818181817 Benign 1 -47068 Simple 73036398 G . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -35.4 2.0 Benign 1 -47069 Simple 370352450 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-21 -15.9 2.0 Benign/Likely benign 0 -47072 Simple 2303832 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -43.8 2.3333333333333335 Benign 1 -47074 Simple 72646809 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -39.6 2.1818181818181817 Benign 1 -47076 Simple 397517613 C . Likely benign 2 2 not specified 2016-10-27 -4.8 3.0 Likely benign 0 -47077 Simple 377169251 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2013-05-29 -0.39 4.5 Uncertain significance 0 -47078 Simple 72647877 C . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -39.0 2.272727272727273 Benign 1 -47080 Simple 397517615 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-18 -0.5700000000000001 1.5 Uncertain significance 0 -47081 Simple 371155050 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-29 -15.9 2.25 Benign/Likely benign 0 -47084 Simple 376932266 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-28 -0.44999999999999996 3.0 Uncertain significance 0 -47086 Simple 2303834 G . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-31 -14.4 2.6666666666666665 Benign/Likely benign 1 -47088 Simple 138240658 G . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-05 -9.6 2.5 Benign/Likely benign 1 -47090 Simple 368265962 C . Uncertain significance 2 2 not specified 2015-06-05 -0.48 3.0 Uncertain significance 0 -47091 Simple 370135374 G . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-05 -1.08 1.75 Uncertain significance 0 -47093 Simple 116142642 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-03 -0.48 3.0 Uncertain significance 0 -47096 Simple 201450276 T . Likely benign 2 2 not specified 2016-06-13 -4.5 3.5 Likely benign 0 -47098 Simple 12476289 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -47101 Simple 72646819 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-06 -0.72 2.6666666666666665 Uncertain significance 0 -47102 Simple 368272978 T . Likely benign 2 2 not specified 2017-10-26 -4.8 2.5 Likely benign 0 -47104 Simple 397517622 A . Uncertain significance 2 2 not specified 2014-03-28 -0.39 4.5 Uncertain significance 0 -47105 Simple 146608896 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-20 -18.0 2.5 Benign/Likely benign 0 -47108 Simple 201194435 A . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Dilated cardiomyopathy 1S;not specified 2017-05-26 -1.08 1.75 Uncertain significance 0 -47109 Simple 370888932 T . Uncertain significance 2 3 not specified 2015-10-07 -0.69 3.3333333333333335 Uncertain significance 0 -47110 Simple 1001238 C . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -47111 Simple 72646827 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-08 -15.6 3.5 Benign/Likely benign 0 -47115 Simple 397517626 TT . Likely pathogenic 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G 2017-04-27 5.1 2.0 Likely pathogenic 0 -47116 Simple 148299739 A . Benign/Likely benign 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-23 -25.8 1.375 Benign 1 -47118 Simple 200001206 G . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-03-21 -0.9299999999999999 3.0 Uncertain significance 0 -47120 Simple 35833641 G . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -47123 Simple 72646832 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-26 -16.2 3.25 Benign/Likely benign 0 -47124 Simple 72646833 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-26 -20.4 3.4 Benign/Likely benign 0 -47126 Simple 397517630 C . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-07-20 -1.26 2.4 Uncertain significance 0 -47128 Simple 114711705 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-25 -19.2 2.0 Benign/Likely benign 0 -47133 Simple 189818369 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-11 -11.7 1.0 Benign/Likely benign 0 -47136 Simple 2288569 T . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 2.75 Benign 1 -47137 Simple 201840554 G . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-26 -14.4 2.6666666666666665 Benign/Likely benign 1 -47140 Simple 191066933 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-28 -12.6 2.0 Benign/Likely benign 0 -47142 Simple 2303836 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -39.0 2.272727272727273 Benign 1 -47144 Simple 397517641 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-18 -0.5700000000000001 1.5 Uncertain significance 0 -47147 Simple 397517643 - . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;not provided 2016-08-10 10.8 2.3333333333333335 Pathogenic/Likely pathogenic 0 -47148 Simple 72646840 A . Benign/Likely benign 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-04 -31.5 1.7142857142857142 Benign 1 -47152 Simple 16866406 A . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -47154 Simple 374163882 T . Uncertain significance 2 2 not specified 2015-06-12 -0.51 2.5 Uncertain significance 0 -47158 Simple 75686037 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -36.6 1.8 Benign 1 -47159 Simple 201487340 T . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-02 -15.0 2.3333333333333335 Benign/Likely benign 1 -47160 Simple 77351975 T . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-09-28 -24.6 2.4 Benign 0 -47161 Simple 397517645 A . Likely benign 2 2 not specified 2016-11-07 -4.5 3.5 Likely benign 0 -47162 Simple 72646843 G . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-17 -24.6 2.4 Benign 0 -47166 Simple 150725992 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-17 -0.72 2.6666666666666665 Uncertain significance 0 -47168 Simple 141973925 T . Benign/Likely benign 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-11 -26.4 2.142857142857143 Benign 1 -47170 Simple 2163009 C . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -47173 Simple 202012910 G . Uncertain significance 2 3 not specified;not provided 2017-09-06 -0.69 3.0 Uncertain significance 0 -47174 Simple 72647878 G . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-29 -24.6 2.6 Benign 0 -47175 Simple 72646846 A . Likely pathogenic 2 8 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2017-10-02 22.200000000000003 1.625 Pathogenic 2 -47178 Simple 72647843 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -40.2 2.090909090909091 Benign 1 -47179 Simple 1560221 G . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -47180 Simple 72646847 G . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-27 -18.0 3.25 Benign/Likely benign 1 -47181 Simple 397517651 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -0.75 2.3333333333333335 Uncertain significance 0 -47182 Simple 72646848 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-06-30 -14.7 2.6 Benign/Likely benign 0 -47186 Simple 397517652 T . Uncertain significance 2 2 not specified 2017-09-28 -0.48 2.5 Uncertain significance 0 -47189 Simple 72646851 T . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-09-28 -24.6 2.4 Benign 0 -47191 Simple 72646852 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -15.3 2.25 Benign/Likely benign 0 -47195 Simple 140914855 T . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-08 -1.23 2.8 Uncertain significance 0 -47199 Simple 199598302 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-03 -36.3 1.4 Benign 1 -47202 Simple 201285872 T . Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-23 -10.200000000000001 2.25 Benign/Likely benign 1 -47205 Simple 72646857 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -41.4 1.9090909090909092 Benign 1 -47209 Simple 2042996 A . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -42.6 2.5833333333333335 Benign 1 -47216 Simple 72646861 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -43.8 2.3333333333333335 Benign 1 -47218 Simple 13021201 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -38.4 2.3636363636363638 Benign 1 -47220 Simple 397517661 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2013-03-11 -0.36 5.0 Uncertain significance 0 -47223 Simple 55948748 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -39.6 2.1818181818181817 Benign 1 -47224 Simple 72646864 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-18 -10.200000000000001 2.3333333333333335 Benign/Likely benign 0 -47225 Simple 200825430 G . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-18 -21.0 2.2 Benign/Likely benign 0 -47226 Simple 397517662 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-11-24 -0.45 3.5 Uncertain significance 0 -47227 Simple 4894029 C . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -47228 Simple 62618736 T . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -35.4 2.0 Benign 1 -47231 Simple 149668487 C . Benign/Likely benign 2 2 not specified 2014-05-05 -6.3 4.5 Likely benign 1 -47233 Simple 72646868 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-19 -1.05 2.25 Uncertain significance 0 -47235 Simple 372814670 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-27 -4.8 3.0 Likely benign 0 -47240 Simple 200971254 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-08 -13.2 1.75 Benign/Likely benign 0 -47247 Simple 2303838 T . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 2.75 Benign 1 -47249 Simple 372388682 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-24 -0.44999999999999996 3.5 Uncertain significance 0 -47250 Simple 4145333 G . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 2.75 Benign 1 -47255 Simple 2288570 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -40.2 2.090909090909091 Benign 1 -47258 Simple 144295295 G . Uncertain significance 2 2 not specified 2016-06-07 -0.48 3.0 Uncertain significance 0 -47261 Simple 397517673 A . Benign/Likely benign 2 2 not specified 2015-11-30 -7.2 3.5 Likely benign 1 -47263 Simple 10497517 G . Benign/Likely benign 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -28.2 2.4444444444444446 Benign 1 -47264 Simple 397517675 T . Uncertain significance 2 2 not specified 2017-05-24 -0.48 2.5 Uncertain significance 0 -47269 Simple 368301580 G . Uncertain significance 2 2 not specified;not provided 2013-11-01 -0.39 4.5 Uncertain significance 0 -47271 Simple 72646881 C . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -35.4 2.0 Benign 1 -47272 Simple 72646883 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -16.8 2.75 Benign/Likely benign 0 -47274 Simple 67041405 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-03 -33.0 2.1 Benign 1 -47275 Simple 72646885 C . Benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-09 -30.6 2.3333333333333335 Benign 0 -47276 Simple 115658240 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-25 -36.6 1.8 Benign 1 -47282 Simple 397517682 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-25 -0.51 2.5 Uncertain significance 0 -47283 Simple 397517683 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-24 -0.44999999999999996 3.5 Uncertain significance 0 -47284 Simple 397517684 T . Likely benign 2 2 not specified 2016-09-02 -4.5 3.5 Likely benign 0 -47286 Simple 370771532 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-04-03 -0.51 2.0 Uncertain significance 0 -47288 Simple 148210834 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-03 -4.8 2.5 Likely benign 0 -47289 Simple 72646890 G . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-07 -21.9 2.6 Benign/Likely benign 0 -47290 Simple 55801134 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -39.6 2.1818181818181817 Benign 1 -47291 Simple 397517687 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-07-10 -0.48 3.0 Uncertain significance 0 -47293 Simple 12464787 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -47295 Simple 377220635 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-13 -4.8 3.0 Likely benign 0 -47298 Simple 55677134 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-24 -39.3 1.9090909090909092 Benign 1 -47301 Simple 397517689 A . Pathogenic/Likely pathogenic 2 4 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;not provided 2017-01-27 18.9 2.0 Pathogenic 1 -47303 Simple 397517690 T . Uncertain significance 2 3 not specified 2015-10-07 -0.69 3.3333333333333335 Uncertain significance 0 -47304 Simple 72646893 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -40.2 2.090909090909091 Benign 1 -47305 Simple 10164753 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -47306 Simple 72646894 C . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -40.2 2.090909090909091 Benign 1 -47307 Simple 397517691 G . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-02 -22.200000000000003 1.5 Benign/Likely benign 1 -47313 Simple 200471370 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-11 -0.69 3.0 Uncertain significance 0 -47314 Simple 374712231 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-03 -0.78 2.0 Uncertain significance 0 -47315 Simple 397517693 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-25 -0.48 2.5 Uncertain significance 0 -47318 Simple 56201325 C . Benign/Likely benign 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-07-27 -38.7 1.75 Benign 1 -47321 Simple 189768015 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -15.600000000000001 2.0 Benign/Likely benign 0 -47328 Simple 373527654 C . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-25 -1.02 2.0 Uncertain significance 0 -47329 Simple 744426 A . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -40.8 2.8333333333333335 Benign 1 -47333 Simple 744427 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -39.0 2.272727272727273 Benign 1 -47334 Simple 138787974 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-28 -43.8 1.8333333333333333 Benign 1 -47338 Simple 56151652 C . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-31 -21.0 3.2 Benign/Likely benign 0 -47339 Simple 6732060 G . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -47340 Simple 397517701 T . Uncertain significance 2 2 not specified 2017-01-20 -0.54 2.0 Uncertain significance 0 -47342 Simple 397517703 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-09 -0.48 3.0 Uncertain significance 0 -47347 Simple 3813243 T . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -47.4 2.5384615384615383 Benign 1 -47348 Simple 201095164 A . Uncertain significance 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-02-07 -2.4899999999999998 1.7777777777777777 Uncertain significance 0 -47349 Simple 3813245 G . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -48.0 2.4615384615384617 Benign 1 -47355 Simple 55857909 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -16.5 1.75 Benign/Likely benign 0 -47356 Simple 3813246 C . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -44.4 2.25 Benign 1 -47359 Simple 56018860 C . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -48.6 2.3846153846153846 Benign 1 -47362 Simple 397517712 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-01 -0.48 2.5 Uncertain significance 0 -47364 Simple 149127072 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-12 -10.8 2.3333333333333335 Benign/Likely benign 0 -47365 Simple 75031300 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-06-05 -21.3 3.0 Benign/Likely benign 0 -47367 Simple 12463674 G . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -40.2 2.9166666666666665 Benign 1 -47368 Simple 72648205 T . Uncertain significance 2 2 not specified;not provided;Cardiovascular phenotype 2015-11-13 -0.45 3.5 Uncertain significance 0 -47369 Simple 370367786 T . Uncertain significance 2 2 not specified 2014-02-28 -0.39 4.5 Uncertain significance 0 -47370 Simple 3731744 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -43.2 2.4166666666666665 Benign 1 -47373 Simple 3731745 G . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -48.6 2.3846153846153846 Benign 1 -47374 Simple 55861600 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -39.6 2.1818181818181817 Benign 1 -47375 Simple 56044609 T . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-21 -28.2 2.8333333333333335 Benign 1 -47377 Simple 4894048 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -47379 Simple 10185798 T . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-28 -36.0 1.9 Benign 1 -47380 Simple 56307213 G . Benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-09 -26.400000000000002 3.5 Benign 0 -47382 Simple 3731746 A . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 2.75 Benign 1 -47383 Simple 72648208 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-29 -10.8 2.3333333333333335 Benign/Likely benign 0 -47386 Simple 369941201 T . Uncertain significance 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-09-07 -1.6199999999999999 1.8333333333333333 Uncertain significance 0 -47390 Simple 79926414 T . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -35.4 2.0 Benign 1 -47391 Simple 201069672 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-02 -15.0 2.75 Benign/Likely benign 0 -47392 Simple 3813247 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -43.8 2.3333333333333335 Benign 1 -47394 Simple 114908705 G . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-18 -18.6 3.0 Benign/Likely benign 1 -47395 Simple 72648212 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-12 -15.3 2.5 Benign/Likely benign 0 -47396 Simple 397517720 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -0.48 2.5 Uncertain significance 0 -47398 Simple 182126530 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-27 -14.4 3.0 Benign/Likely benign 0 -47399 Simple 56181243 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -38.4 2.090909090909091 Benign 1 -47402 Simple 56214710 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -44.4 2.25 Benign 1 -47405 Simple 56365600 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -44.4 2.25 Benign 1 -47407 Simple 56137800 C . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-19 -39.3 1.5454545454545454 Benign 1 -47409 Simple 376037252 G . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -47410 Simple 55933739 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -39.6 2.1818181818181817 Benign 1 -47411 Simple 201958805 G . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-24 -2.58 1.3333333333333333 Uncertain significance 0 -47413 Simple 199629314 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-03 -36.3 1.4 Benign 1 -47416 Simple 55634791 A . Uncertain significance 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-08-16 -2.55 1.5555555555555556 Uncertain significance 0 -47418 Simple 11896637 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -39.6 2.1818181818181817 Benign 1 -47419 Simple 56309296 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -44.4 2.25 Benign 1 -47420 Simple 2291306 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -38.4 2.4545454545454546 Benign 1 -47423 Simple 184643087 T . Uncertain significance 2 3 not specified 2016-08-17 -0.75 2.6666666666666665 Uncertain significance 0 -47425 Simple 3829746 C . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -40.8 2.8333333333333335 Benign 1 -47428 Simple 200775919 G . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-18 -2.79 1.6 Uncertain significance 0 -47429 Simple 2366751 G . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -47430 Simple 148067743 G . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-10-12 -2.52 1.6666666666666667 Uncertain significance 0 -47432 Simple 200450022 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-21 -1.05 2.0 Uncertain significance 0 -47433 Simple 56057221 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -44.4 2.25 Benign 1 -47434 Simple 397517726 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-11-24 -0.45 3.5 Uncertain significance 0 -47436 Simple 73036373 C . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -35.4 2.0 Benign 1 -47437 Simple 200350579 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -21.9 1.4 Benign/Likely benign 0 -47442 Simple 200843338 T . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-05 -2.4899999999999998 1.6666666666666667 Uncertain significance 0 -47444 Simple 146590898 C . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-26 -17.4 3.5 Benign/Likely benign 1 -47448 Simple 201688358 T . Uncertain significance 2 2 not specified 2015-08-21 -0.48 3.0 Uncertain significance 0 -47451 Simple 56142888 G . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 2.75 Benign 1 -47452 Simple 56310931 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-09 -15.0 3.75 Benign/Likely benign 0 -47454 Simple 200709344 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-11 -0.48 2.5 Uncertain significance 0 -47457 Simple 55972010 C . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -36.6 1.8 Benign 1 -47458 Simple 397517735 T . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;not provided 2017-05-16 14.1 1.3333333333333333 Pathogenic/Likely pathogenic 0 -47460 Simple 12621078 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -40.2 2.090909090909091 Benign 1 -47461 Simple 147207100 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Abnormality of neuronal migration 2017-07-27 -4.5 3.0 Likely benign 1 -47463 Simple 375198596 G . Uncertain significance 2 3 not specified 2016-12-13 -0.72 3.0 Uncertain significance 0 -47467 Simple 72648229 G . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -36.0 1.9 Benign 1 -47470 Simple 191482653 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-31 -41.1 1.8333333333333333 Benign 1 -47472 Simple 73036368 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-11-30 -1.02 2.5 Uncertain significance 0 -47473 Simple 183013408 T . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-03-31 -2.58 1.3333333333333333 Uncertain significance 0 -47474 Simple 55940667 G . Uncertain significance 2 4 not specified;not provided;Cardiovascular phenotype 2014-07-08 -0.84 4.0 Uncertain significance 0 -47475 Simple 9808377 G . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 2.75 Benign 1 -47476 Simple 9808036 T . Benign/Likely benign 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -28.2 2.4444444444444446 Benign 1 -47479 Simple 200899806 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-04-14 -0.69 3.0 Uncertain significance 0 -47480 Simple 190406444 C . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -16.2 1.6666666666666667 Benign/Likely benign 1 -47481 Simple 371612136 A . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-10 -15.0 2.3333333333333335 Benign/Likely benign 1 -47482 Simple 376679796 T . Likely benign 2 2 not specified 2015-10-02 -4.800000000000001 3.0 Likely benign 0 -47488 Simple 77853750 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -36.6 1.8 Benign 1 -47490 Simple 397517743 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2015-10-28 -0.45 3.5 Uncertain significance 0 -47491 Simple 397517744 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-03-07 -0.48 3.0 Uncertain significance 0 -47493 Simple 397517746 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -0.44999999999999996 3.0 Uncertain significance 0 -47494 Simple 142891278 T . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -20.400000000000002 2.25 Benign/Likely benign 1 -47495 Simple 397517747 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -0.48 2.5 Uncertain significance 0 -47499 Simple 370479059 G . Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-07 -10.8 1.75 Benign/Likely benign 1 -47503 Simple 11887722 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -44.4 2.25 Benign 1 -47504 Simple 11897366 C . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.0 2.5 Benign 1 -47505 Simple 397517752 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-26 -4.8 3.0 Likely benign 0 -47507 Simple 193022702 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-24 -15.9 2.0 Benign/Likely benign 0 -47508 Simple 145133144 A . Likely benign 2 2 not specified 2016-06-10 -5.1 2.5 Likely benign 0 -47511 Simple 72648244 C . Benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-31 -29.400000000000002 2.6666666666666665 Benign 0 -47515 Simple 56145100 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -40.2 2.090909090909091 Benign 1 -47516 Simple 144922355 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-28 -18.0 3.25 Benign/Likely benign 1 -47517 Simple 72648245 C . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-10 -15.3 2.4 Benign/Likely benign 0 -47518 Simple 201400267 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-03-15 -1.02 2.25 Uncertain significance 0 -47519 Simple 747122 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -47521 Simple 16866391 C . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -43.2 2.4166666666666665 Benign 1 -47522 Simple 201019681 C . Uncertain significance 2 2 not specified 2015-02-13 -0.48 3.0 Uncertain significance 0 -47523 Simple 33917087 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-04 -21.6 3.6 Benign/Likely benign 0 -47524 Simple 397517755 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -0.48 2.5 Uncertain significance 0 -47525 Simple 77968867 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-25 -17.1 3.0 Benign/Likely benign 0 -47526 Simple 368427408 G . Uncertain significance 2 2 not specified 2015-07-10 -0.45 3.5 Uncertain significance 0 -47527 Simple 2306636 T . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -47528 Simple 397517756 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -0.78 2.0 Uncertain significance 0 -47530 Simple 3731748 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -47531 Simple 202096200 G . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.39 4.5 Uncertain significance 0 -47532 Simple 35445420 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -39.6 2.1818181818181817 Benign 1 -47535 Simple 397517758 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2014-08-25 7.199999999999999 3.0 Likely pathogenic 1 -47537 Simple 67665715 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -39.6 2.1818181818181817 Benign 1 -47538 Simple 200345129 A . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.36 5.0 Uncertain significance 0 -47539 Simple 181104321 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-08-04 -12.9 2.3333333333333335 Benign/Likely benign 0 -47540 Simple 373502790 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-29 -4.8 3.0 Likely benign 0 -47542 Simple 397517759 C . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.16 2.0 Uncertain significance 0 -47543 Simple 141357723 T . Uncertain significance 2 2 not specified 2013-09-30 -0.39 4.5 Uncertain significance 0 -47547 Simple 72648257 C . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -44.4 2.25 Benign 1 -47549 Simple 376403373 T . Uncertain significance 2 4 not specified 2016-10-28 -1.02 2.5 Uncertain significance 0 -47550 Simple 140663434 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -20.400000000000002 2.25 Benign/Likely benign 1 -47551 Simple 373182578 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-21 -12.6 2.6666666666666665 Benign/Likely benign 0 -47553 Simple 368243641 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-03-30 -19.2 2.8 Benign/Likely benign 0 -47558 Simple 72648260 A . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -36.0 1.9 Benign 1 -47560 Simple 397517762 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-19 -4.8 3.0 Likely benign 0 -47563 Simple 372773283 T . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-25 -20.4 2.25 Benign/Likely benign 1 -47564 Simple 375640847 A . Uncertain significance 2 3 not specified 2015-07-28 -0.75 2.6666666666666665 Uncertain significance 0 -47565 Simple 397517763 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-03-28 -0.48 3.0 Uncertain significance 0 -47566 Simple 62621236 G . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -47569 Simple 376039623 T . Uncertain significance 2 2 not specified 2017-08-11 -0.48 2.5 Uncertain significance 0 -47571 Simple 4894045 C . Benign/Likely benign 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -28.8 2.3333333333333335 Benign 1 -47573 Simple 72648266 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-25 -10.5 2.3333333333333335 Benign/Likely benign 0 -47574 Simple 56027402 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -40.2 2.090909090909091 Benign 1 -47575 Simple 141431591 G . Benign/Likely benign 2 2 not specified 2017-01-04 -7.8 3.0 Likely benign 1 -47582 Simple 373206096 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-20 -14.1 1.3333333333333333 Benign/Likely benign 0 -47583 Simple 397517768 T . Uncertain significance 2 2 not specified 2016-12-20 -0.48 3.0 Uncertain significance 0 -47585 Simple 397517770 T . Uncertain significance 2 2 not specified 2014-08-22 -0.44999999999999996 3.5 Uncertain significance 0 -47586 Simple 3731749 T . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 2.75 Benign 1 -47590 Simple 3731750 A . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -33.0 2.5 Benign 1 -47591 Simple 397517772 A . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -1.95 1.7142857142857142 Uncertain significance 0 -47594 Simple 2288325 T . Benign/Likely benign 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -24.6 2.125 Benign 1 -47595 Simple 72648270 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -39.0 2.272727272727273 Benign 1 -47597 Simple 397517775 T . Uncertain significance 2 2 not specified 2017-03-31 -0.51 2.0 Uncertain significance 0 -47600 Simple 149001703 C . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-08-01 -20.7 2.0 Benign/Likely benign 0 -47601 Simple 368487246 T . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-25 -20.4 2.25 Benign/Likely benign 1 -47602 Simple 11900987 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-14 -15.3 2.0 Benign/Likely benign 0 -47605 Simple 141150066 G . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-10 -7.8 2.5 Likely benign 1 -47607 Simple 375361462 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-03-30 -19.2 2.8 Benign/Likely benign 0 -47608 Simple 368877793 G . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-03 -1.02 2.25 Uncertain significance 0 -47609 Simple 200544701 C . Uncertain significance 2 2 not specified 2017-02-07 -0.44999999999999996 3.5 Uncertain significance 0 -47610 Simple 4894028 T . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -47611 Simple 78814506 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-20 -21.9 2.8 Benign/Likely benign 0 -47613 Simple 77257306 G . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-18 -18.6 3.0 Benign/Likely benign 1 -47614 Simple 72647886 C . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-06-29 -27.3 2.6666666666666665 Benign 1 -47617 Simple 371531675 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-18 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -47621 Simple 72648278 T . Uncertain significance 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-22 -3.21 1.0909090909090908 Uncertain significance 0 -47624 Simple 55742743 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -39.6 2.1818181818181817 Benign 1 -47625 Simple 55675869 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -40.2 2.090909090909091 Benign 1 -47627 Simple 397517783 T . Uncertain significance 2 2 not specified 2015-12-22 -0.54 2.0 Uncertain significance 0 -47628 Simple 72629779 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-02 -40.8 2.0 Benign 1 -47629 Simple 2278196 T . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -43.2 2.4166666666666665 Benign 1 -47630 Simple 373366126 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-10 -0.75 2.6666666666666665 Uncertain significance 0 -47631 Simple 77483833 A . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-18 -7.5 3.0 Likely benign 1 -47632 Simple 368168812 G . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-25 -20.4 2.25 Benign/Likely benign 1 -47634 Simple 201554140 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-02 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -47639 Simple 34924609 T . Benign/Likely benign 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-08 -27.6 2.4285714285714284 Benign 1 -47640 Simple 114267234 A . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-02 -13.8 3.0 Benign/Likely benign 1 -47642 Simple 56376197 C . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -40.2 2.090909090909091 Benign 1 -47645 Simple 144963736 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-25 -17.400000000000002 2.75 Benign/Likely benign 0 -47648 Simple 4893853 C . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -47649 Simple 397517786 G . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-03-02 -0.99 2.75 Uncertain significance 0 -47650 Simple 2857265 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.2 2.6363636363636362 Benign 1 -47651 Simple 140664731 A . Uncertain significance 2 2 not specified 2016-12-28 -0.54 2.0 Uncertain significance 0 -47655 Simple 3731752 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -43.2 2.4166666666666665 Benign 1 -47659 Simple 72629785 A . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-16 -28.8 2.0 Benign 1 -47660 Simple 33997263 C . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2014-07-08 -0.63 4.0 Uncertain significance 0 -47661 Simple 2291312 C . Benign/Likely benign 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -32.4 2.6 Benign 1 -47663 Simple 3829747 T . Benign/Likely benign 2 13 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -46.800000000000004 2.6923076923076925 Benign 1 -47664 Simple 397517788 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-06 -0.48 3.0 Uncertain significance 0 -47670 Simple 72629787 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-26 -40.2 2.090909090909091 Benign 1 -47673 Simple 202011992 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-26 -0.75 2.3333333333333335 Uncertain significance 0 -47675 Simple 68080670 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-03 -42.0 1.8181818181818181 Benign 1 -47677 Simple 56375087 G . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-16 -40.8 2.0 Benign 1 -47678 Simple 72647845 A . Benign/Likely benign 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-06-29 -29.7 2.857142857142857 Benign 1 -47679 Simple 397517792 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-24 -0.75 2.6666666666666665 Uncertain significance 0 -47681 Simple 3829748 A . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -38.4 2.4545454545454546 Benign 1 -47684 Simple 56308529 G . Benign/Likely benign 2 13 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -48.6 2.3846153846153846 Benign 1 -47686 Simple 55634230 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-24 -0.48 3.0 Uncertain significance 0 -47688 Simple 397517795 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-27 -0.54 1.5 Uncertain significance 0 -47689 Simple 3813250 C . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -37.8 2.5454545454545454 Benign 1 -47690 Simple 200782068 A . Uncertain significance 2 3 not specified;not provided 2014-12-11 -0.63 4.0 Uncertain significance 0 -47692 Simple 2291311 T . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -40.8 2.8333333333333335 Benign 1 -47693 Simple 55865284 T . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -40.2 2.090909090909091 Benign 1 -47694 Simple 3829749 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -39.0 2.272727272727273 Benign 1 -47697 Simple 56365812 G . Uncertain significance 2 2 not specified 2014-07-08 -0.42 4.0 Uncertain significance 0 -47699 Simple 56324595 T . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-08 -26.400000000000002 3.5 Benign 1 -47700 Simple 16866380 A . Benign/Likely benign 2 11 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -39.0 2.272727272727273 Benign 1 -47701 Simple 67254537 A . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype 2013-06-24 -13.200000000000001 4.75 Benign/Likely benign 0 -47702 Simple 66961115 A . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype 2013-06-24 -13.200000000000001 4.75 Benign/Likely benign 0 -47703 Simple 16866538 A . Benign/Likely benign 2 12 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 2.75 Benign 1 -47704 Simple 56207956 G . Benign/Likely benign 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -28.2 2.4444444444444446 Benign 1 -47706 Simple 6725673 G . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -36.0 1.9 Benign 1 -47707 Simple 4894043 C . Benign/Likely benign 2 11 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -36.6 2.727272727272727 Benign 1 -47712 Simple 55842557 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-16 -46.8 1.9166666666666667 Benign 1 -47713 Simple 369896045 A . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-26 -7.8 3.0 Likely benign 1 -47715 Simple 116604145 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-25 -20.4 2.25 Benign/Likely benign 1 -47717 Simple 200497615 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-05 -1.08 1.25 Uncertain significance 0 -47718 Simple 16866378 G . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -43.2 2.4166666666666665 Benign 1 -47723 Simple 55832587 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -20.400000000000002 2.25 Benign/Likely benign 0 -47727 Simple 189445085 A . Uncertain significance 2 2 not specified 2015-01-09 -0.48 3.0 Uncertain significance 0 -47728 Simple 200284932 G . Benign/Likely benign 2 2 not specified 2015-08-27 -7.2 3.5 Likely benign 1 -47729 Simple 141407971 A . Benign/Likely benign 2 2 not specified 2014-07-08 -6.6 4.0 Likely benign 1 -47730 Simple 140804168 A . Benign/Likely benign 2 2 not specified 2015-03-11 -7.5 2.5 Likely benign 1 -47731 Simple 72647896 C . Benign 2 3 not specified 2014-04-14 -12.6 4.0 Benign/Likely benign 1 -47733 Simple 922986 C . Benign 2 2 not specified 2014-01-21 -7.2 5.0 Likely benign 2 -47735 Simple 922985 G . Benign 2 3 not specified 2014-01-21 -11.4 4.666666666666667 Benign/Likely benign 1 -47736 Simple 922984 C . Benign 2 3 not specified 2014-01-21 -11.4 4.666666666666667 Benign/Likely benign 1 -47738 Simple 116593093 C . Benign 2 3 not specified 2015-03-20 -14.4 3.0 Benign/Likely benign 1 -47740 Simple 397517804 A . Uncertain significance 2 2 not specified 2015-09-15 -0.48 3.0 Uncertain significance 0 -47741 Simple 72647897 G . Likely benign 2 2 not specified;not provided 2015-08-06 -4.800000000000001 3.0 Likely benign 0 -47742 Simple 143253411 T . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-09 -20.4 2.25 Benign/Likely benign 1 -47743 Simple 10803917 G . Benign 2 2 not specified 2014-01-21 -7.2 5.0 Likely benign 2 -47749 Simple 72648903 T . Benign 2 3 not specified 2014-02-10 -12.0 4.333333333333333 Benign/Likely benign 1 -47753 Simple 142304137 C . Uncertain significance 2 3 not specified;Syncope;Hypertrophic cardiomyopathy 2015-10-29 -0.75 2.6666666666666665 Uncertain significance 0 -47755 Simple 146470872 G . Benign 2 2 not specified 2014-04-14 -7.8 4.5 Likely benign 2 -47756 Simple 72648904 A . Benign 2 2 not specified 2014-01-13 -7.2 5.0 Likely benign 2 -47757 Simple 78457662 G . Benign 2 3 not specified 2014-02-12 -12.0 4.333333333333333 Benign/Likely benign 1 -47758 Simple 72648905 A . Benign 2 2 not specified 2014-02-12 -7.800000000000001 4.5 Likely benign 2 -47759 Simple 147884688 T . Benign 2 3 not specified 2014-10-08 -12.0 4.333333333333333 Benign/Likely benign 1 -47763 Simple 72648906 C . Benign 2 2 not specified 2014-01-21 -7.800000000000001 4.5 Likely benign 2 -47764 Simple 140909116 C . Benign 2 3 not specified 2014-12-17 -13.8 3.3333333333333335 Benign/Likely benign 1 -47765 Simple 149748934 A . Likely benign 2 4 Distal myopathy Markesbery-Griggs type;not specified;not provided 2017-08-01 -10.8 1.75 Benign/Likely benign 1 -47766 Simple 75785339 C . Benign 2 3 not specified 2014-01-21 -12.0 4.333333333333333 Benign/Likely benign 1 -47767 Simple 374783099 C . Uncertain significance 2 2 not specified;not provided 2014-12-17 -0.44999999999999996 3.5 Uncertain significance 0 -47769 Simple 139669372 G . Benign 2 2 not specified 2013-12-09 -7.2 5.0 Likely benign 2 -47773 Simple 150615457 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-08-11 -12.9 2.3333333333333335 Benign/Likely benign 0 -47775 Simple 72648907 T . Benign 2 3 not specified 2013-11-20 -11.4 4.666666666666667 Benign/Likely benign 1 -47776 Simple 72648908 C . Benign 2 2 not specified 2014-01-30 -7.800000000000001 4.5 Likely benign 2 -47777 Simple 72648909 A . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.42 4.0 Uncertain significance 0 -47781 Simple 61233923 G . Benign 2 2 not specified 2014-01-21 -7.800000000000001 4.5 Likely benign 2 -47782 Simple 72648910 T . Benign 2 2 not specified 2014-03-05 -8.4 4.0 Benign/Likely benign 1 -47786 Simple 66677602 A . Benign 2 3 not specified 2013-11-22 -12.0 4.333333333333333 Benign/Likely benign 1 -47787 Simple 72648911 A . Benign 2 2 not specified 2014-01-21 -7.800000000000001 4.5 Likely benign 2 -47789 Simple 150017914 C . Uncertain significance 2 2 not specified 2014-09-08 -0.39 4.5 Uncertain significance 0 -47791 Simple 186841908 T . Benign/Likely benign 2 2 not specified 2015-08-27 -8.100000000000001 2.0 Likely benign 1 -47802 Simple 72648915 T . Benign 2 3 not specified 2014-01-21 -12.0 4.333333333333333 Benign/Likely benign 1 -47803 Simple 16866489 G . Benign 2 2 not specified 2014-12-19 -8.4 4.0 Benign/Likely benign 1 -47804 Simple 16866488 G . Benign 2 2 not specified 2014-11-07 -8.4 4.0 Benign/Likely benign 1 -47807 Simple 2627037 A . Benign 2 3 not specified 2013-06-24 -10.8 5.0 Benign/Likely benign 1 -47810 Simple 397517826 - . Uncertain significance 2 2 not specified;Left ventricular noncompaction cardiomyopathy 2015-04-15 -0.45 3.5 Uncertain significance 0 -47812 Simple 55853696 C . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -18.6 3.0 Benign/Likely benign 1 -47813 Simple 397517827 A . Uncertain significance 2 2 not specified 2016-12-07 -0.48 3.0 Uncertain significance 0 -47814 Simple 33971253 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-08 -17.4 3.5 Benign/Likely benign 1 -47816 Simple 55895721 A . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -13.2 3.3333333333333335 Benign/Likely benign 1 -47818 Simple 377114166 A . Uncertain significance 2 2 not specified 2014-07-15 -0.42 4.0 Uncertain significance 0 -47819 Simple 397517829 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-12 -0.48 3.0 Uncertain significance 0 -47821 Simple 80136515 A . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-21 -24.0 2.8 Benign 0 -47822 Simple 192857526 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-25 -13.5 1.6666666666666667 Benign/Likely benign 0 -47823 Simple 34070843 C . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-09 -17.4 3.5 Benign/Likely benign 1 -47824 Simple 2742357 G . Benign 2 2 not specified 2012-10-19 -7.2 5.0 Likely benign 2 -47826 Simple 34618570 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -27.0 1.8 Benign 1 -47827 Simple 370912401 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-11-17 -0.78 2.0 Uncertain significance 0 -47828 Simple 374631591 G . Uncertain significance 2 2 not specified;not provided 2016-01-04 -0.45 3.5 Uncertain significance 0 -47829 Simple 199652066 G . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-05-24 -16.2 2.0 Benign/Likely benign 0 -47830 Simple 746578 T . Benign 2 2 not specified 2012-10-31 -7.2 5.0 Likely benign 2 -47831 Simple 746578 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2015-11-12 -18.0 3.5 Benign/Likely benign 1 -47832 Simple 199560188 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-05-24 -16.2 2.0 Benign/Likely benign 0 -47834 Simple 375347596 C . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-05-24 -25.2 2.3333333333333335 Benign 1 -47835 Simple 200431386 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-05-24 -19.2 2.0 Benign/Likely benign 0 -47836 Simple 1883084 A . Benign 2 2 not specified 2012-10-19 -7.2 5.0 Likely benign 2 -47837 Simple 370604524 G . Benign/Likely benign 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-05-24 -25.2 2.3333333333333335 Benign 1 -47838 Simple 2562829 G . Benign 2 3 not specified 2013-06-24 -11.4 4.666666666666667 Benign/Likely benign 1 -47839 Simple 115532048 T . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -18.0 3.25 Benign/Likely benign 1 -47840 Simple 1883085 G . Benign 2 3 not specified 2013-06-24 -11.4 4.666666666666667 Benign/Likely benign 1 -47841 Simple 55857742 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-08-11 -23.7 2.2 Benign/Likely benign 0 -47844 Simple 201200682 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -15.6 2.25 Benign/Likely benign 0 -47846 Simple 72955213 T . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-08 -17.4 3.5 Benign/Likely benign 1 -47847 Simple 57389274 A . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-02 -16.8 3.75 Benign/Likely benign 1 -47848 Simple 79466278 G . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -16.8 1.3333333333333333 Benign/Likely benign 1 -47850 Simple 72955212 A . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-08 -13.2 3.3333333333333335 Benign/Likely benign 1 -47852 Simple 7585334 T . Benign 2 3 not specified 2013-06-24 -10.8 5.0 Benign/Likely benign 1 -47860 Simple 17058153 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -47863 Simple 34532421 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -47869 Simple 1796993 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -47870 Simple 376040866 - . Benign/Likely benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -47873 Simple 11143384 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -47874 Simple 2589615 T . Benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.0 3.3333333333333335 Benign/Likely benign 1 -47882 Simple 11110359 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -47883 Simple 11568546 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -47884 Simple 11568528 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -47885 Simple 11568542 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -47886 Simple 397517843 A . Uncertain significance 2 3 Primary familial hypertrophic cardiomyopathy;not specified 2015-09-22 -0.6900000000000001 3.3333333333333335 Uncertain significance 0 -47887 Simple 200067011 T . Uncertain significance 2 4 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;Cardiomyopathy;not specified 2016-06-04 -0.9 3.5 Uncertain significance 0 -47889 Simple 397517845 C . Likely benign 2 2 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified 2017-02-08 -4.8 3.0 Likely benign 0 -47894 Simple 397517849 GGAGGA . Uncertain significance 2 2 not specified 2017-05-11 -0.48 2.5 Uncertain significance 0 -47897 Simple 199738750 G . Uncertain significance 2 2 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;Cardiomyopathy;not specified 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -47906 Simple 35117963 A . Benign/Likely benign 2 6 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-07-31 -25.2 2.1666666666666665 Benign 1 -47908 Simple 201447781 A . Uncertain significance 2 3 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified 2017-04-11 -0.78 2.0 Uncertain significance 0 -47911 Simple 1166698 A . Benign/Likely benign 2 5 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -18.0 3.0 Benign/Likely benign 0 -47912 Simple 375544798 G . Benign/Likely benign 2 2 not specified 2015-08-19 -7.2 3.5 Likely benign 1 -47914 Simple 200753280 G . Uncertain significance 2 7 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-06-16 -2.01 1.2857142857142858 Uncertain significance 0 -47916 Simple 10163657 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -47918 Simple 187658135 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -47926 Simple 2086005 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -47928 Simple 36086089 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -47930 Simple 188119157 A . Pathogenic/Likely pathogenic 2 2 Nonsyndromic hearing loss and deafness;not provided 2017-03-31 6.6 2.5 Likely pathogenic 1 -47931 Simple 397517861 A . Uncertain significance 2 2 not specified 2017-08-23 -0.48 2.5 Uncertain significance 0 -47934 Simple 1893566 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -47940 Simple 75949023 T . Benign 2 3 not specified;not provided 2016-06-29 -17.4 1.3333333333333333 Benign/Likely benign 1 -47944 Simple 59128481 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -47949 Simple 1377016 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -47951 Simple 74316327 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -47952 Simple 215901 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -47954 Simple 78970023 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -47955 Simple 16972658 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -47959 Simple 397517867 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -47962 Simple 10578999 - . Benign 2 3 not specified 2015-11-23 -13.8 3.3333333333333335 Benign/Likely benign 1 -47966 Simple 397517871 C . Likely benign 2 2 Legius syndrome;not specified 2017-06-05 -4.8 2.5 Likely benign 0 -47968 Simple 376134678 G . Likely benign 2 2 Legius syndrome;not specified 2017-05-11 -5.1 2.0 Likely benign 0 -47969 Simple 115970207 G . Benign/Likely benign 2 3 Legius syndrome;not specified 2017-08-01 -12.6 2.0 Benign/Likely benign 0 -47970 Simple 144764225 T . Benign 2 3 Legius syndrome;not specified 2017-05-26 -17.4 1.0 Benign/Likely benign 1 -47971 Simple 75157409 C . Benign/Likely benign 2 2 not specified 2016-02-05 -6.300000000000001 3.5 Likely benign 1 -47972 Simple 2041027 A . Benign 2 1 not specified 2009-06-24 . 8.0 . 0 -47973 Simple 2240488 C . Benign 2 1 not specified 2009-06-24 . 8.0 . 0 -47974 Simple 11024318 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.5 Benign/Likely benign 0 -47976 Simple 2240487 C . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -47982 Simple 17776775 A . Benign 2 4 not specified 2016-05-25 -18.6 3.75 Benign/Likely benign 1 -47989 Simple 76769358 G . Benign 2 2 not specified 2013-05-08 -7.800000000000001 4.5 Likely benign 2 -47990 Simple 146451547 A . Likely pathogenic 2 2 Deafness, autosomal recessive 18;Nonsyndromic hearing loss and deafness 2016-04-08 5.1 2.5 Likely pathogenic 0 -47995 Simple 17703528 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -13.2 3.5 Benign/Likely benign 0 -47997 Simple 10832796 A . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -48002 Simple 397517877 T . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -48003 Simple 1064074 G . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -48006 Simple 2072232 G . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.3333333333333335 Benign/Likely benign 0 -48008 Simple 10832795 G . Benign 2 1 not specified 2009-06-24 . 8.0 . 0 -48009 Simple 56165709 T . Benign 2 3 not specified 2016-09-19 -13.8 3.3333333333333335 Benign/Likely benign 1 -48014 Simple 41282942 A . Benign 2 2 not specified 2015-09-22 -9.0 3.5 Benign/Likely benign 1 -48030 Simple 397517888 TGGATGGA . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2016-02-10 7.800000000000001 2.5 Likely pathogenic 1 -48031 Simple 397517889 T . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided 2017-06-28 14.4 1.0 Pathogenic/Likely pathogenic 0 -48032 Simple 57508089 T . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy;Charcot-Marie-Tooth disease, type 2;not provided 2016-12-24 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -48035 Simple 61094188 T . Uncertain significance 2 5 Catecholaminergic polymorphic ventricular tachycardia type 1;Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy;not specified;not provided 2017-06-22 -1.29 2.0 Uncertain significance 0 -48037 Simple 505058 C . Benign/Likely benign 2 19 Charcot-Marie-Tooth disease type 2B1;Hutchinson-Gilford syndrome;Limb-girdle muscular dystrophy, type 1B;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Mandibuloacral dysplasia;not specified;not provided;Familial partial lipodystrophy;Cardiovascular phenotype;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-27 -103.2 2.0526315789473686 Benign 1 -48040 Simple 397517894 T . Likely benign 2 2 not specified 2017-08-29 -4.5 4.0 Likely benign 0 -48041 Simple 58013325 CC . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided 2016-11-06 12.0 1.0 Pathogenic/Likely pathogenic 0 -48044 Simple 80356812 A . Benign/Likely benign 2 14 Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;Familial partial lipodystrophy;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-25 -43.8 1.2142857142857142 Benign 1 -48045 Simple 201583907 A . Uncertain significance 2 5 Charcot-Marie-Tooth disease, type 2;not specified;not provided;Cardiovascular phenotype 2017-08-03 -1.38 1.6 Uncertain significance 0 -48046 Simple 56984562 T . Pathogenic 2 6 Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided;Cardiovascular phenotype 2017-08-16 33.6 1.5 Pathogenic 0 -48048 Simple 4641 T . Benign/Likely benign 2 17 Charcot-Marie-Tooth disease type 2B1;Hutchinson-Gilford syndrome;Limb-girdle muscular dystrophy, type 1B;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Mandibuloacral dysplasia;not specified;not provided;Familial partial lipodystrophy;Cardiovascular phenotype;Mandibuloacral dysplasia with type A lipodystrophy;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-26 -99.6 1.1764705882352942 Benign 1 -48049 Simple 56657623 A . Uncertain significance 2 2 not specified;not provided 2015-04-29 -0.45 3.5 Uncertain significance 0 -48055 Simple 117939448 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 2;not specified 2017-05-23 -10.5 2.3333333333333335 Benign/Likely benign 0 -48062 Simple 41313880 T . Benign/Likely benign 2 10 Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy;not specified;not provided;Dilated cardiomyopathy;Cardiovascular phenotype 2017-08-10 -37.5 2.1 Benign 1 -48064 Simple 397517902 C . Uncertain significance 2 3 not specified 2017-09-14 -0.84 1.3333333333333333 Uncertain significance 0 -48065 Simple 397517903 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2016-03-05 -0.5700000000000001 1.5 Uncertain significance 0 -48066 Simple 80356805 T . Benign/Likely benign 2 6 Charcot-Marie-Tooth disease, type 2;not specified 2017-08-15 -30.0 2.3333333333333335 Benign 1 -48070 Simple 61195471 A . Pathogenic 2 2 Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;not provided 2017-07-14 9.0 3.0 Pathogenic/Likely pathogenic 1 -48071 Simple 12117552 A . Benign/Likely benign 2 17 Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;not provided;Familial partial lipodystrophy;Cardiovascular phenotype;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -54.6 1.8823529411764706 Benign 1 -48074 Simple 60682848 T . Pathogenic 2 5 Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;Limb-girdle muscular dystrophy, type 1B;Charcot-Marie-Tooth disease, type 2;not provided 2017-07-25 24.0 2.6 Pathogenic 0 -48076 Simple 397517906 T . Likely pathogenic 2 2 Primary dilated cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-07-25 5.7 1.0 Likely pathogenic 0 -48080 Simple 58978449 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-05-09 7.5 3.0 Likely pathogenic 1 -48084 Simple 267607593 C . Pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2015-08-19 8.4 4.5 Pathogenic/Likely pathogenic 1 -48086 Simple 80356809 A . Benign/Likely benign 2 14 Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;not provided;Familial partial lipodystrophy;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 1.5714285714285714 Benign 1 -48088 Simple 538089 C . Benign/Likely benign 2 18 Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;not provided;Familial partial lipodystrophy;Cardiovascular phenotype;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-26 -97.2 2.0 Benign 1 -48093 Simple 56816490 A . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided 2017-01-23 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -48095 Simple 397517915 - . Pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-05-12 9.6 2.5 Pathogenic/Likely pathogenic 1 -48096 Simple 267607554 T . Pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2016-09-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -48098 Simple 59301204 A . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-07-28 8.1 2.0 Likely pathogenic 1 -48101 Simple 4738118 A . Benign 2 3 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified 2016-06-14 -15.0 3.0 Benign/Likely benign 1 -48105 Simple 117149407 A . Benign/Likely benign 2 3 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -48107 Simple 10103397 G . Benign 2 3 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified 2016-06-14 -15.0 3.0 Benign/Likely benign 1 -48108 Simple 1445404 C . Benign 2 3 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified 2016-06-14 -15.0 3.0 Benign/Likely benign 1 -48109 Simple 1445398 C . Benign 2 3 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified 2016-06-14 -15.0 3.0 Benign/Likely benign 1 -48110 Simple 77808502 G . Benign/Likely benign 2 4 Delta-sarcoglycanopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -48111 Simple 7725121 T . Benign/Likely benign 2 4 Delta-sarcoglycanopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -48114 Simple 13170573 G . Benign 2 4 Delta-sarcoglycanopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -48117 Simple 45559835 A . Benign/Likely benign 2 8 Limb-girdle muscular dystrophy, type 2F;Delta-sarcoglycanopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -31.8 2.625 Benign 1 -48119 Simple 397517922 T . Likely benign 2 2 not specified 2016-03-29 -4.5 3.5 Likely benign 0 -48120 Simple 10071079 A . Benign/Likely benign 2 5 Limb-girdle muscular dystrophy, type 2F;Delta-sarcoglycanopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -18.6 1.6 Benign/Likely benign 0 -48122 Simple 397517924 - . Benign/Likely benign 2 6 Limb-girdle muscular dystrophy, type 2F;not specified;not provided 2017-08-28 -25.5 2.1666666666666665 Benign 1 -48124 Simple 187204080 A . Benign 2 3 not specified 2015-11-13 -13.200000000000001 3.6666666666666665 Benign/Likely benign 1 -48125 Simple 1801193 C . Benign 2 8 Limb-girdle muscular dystrophy, type 2F;Delta-sarcoglycanopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-13 -39.0 3.125 Benign 0 -48126 Simple 139897506 C . Uncertain significance 2 2 not specified 2015-04-01 -0.51 2.5 Uncertain significance 0 -48130 Simple 111033465 C . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;not provided 2017-04-11 -16.8 2.5 Benign/Likely benign 0 -48131 Simple 111033466 T . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -48134 Simple 201644674 T . Benign/Likely benign 2 2 not specified 2015-09-22 -7.5 2.5 Likely benign 1 -48139 Simple 145448362 A . Uncertain significance 2 2 not specified;not provided 2017-01-25 -0.51 2.5 Uncertain significance 0 -48145 Simple 397517932 - . Pathogenic/Likely pathogenic 2 2 Usher syndrome, type 3A 2014-12-02 5.4 4.5 Likely pathogenic 1 -48146 Simple 374963432 T . Pathogenic/Likely pathogenic 2 2 Usher syndrome, type 3A 2014-06-27 5.4 4.5 Likely pathogenic 1 -48147 Simple 3796242 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -13.2 4.0 Benign/Likely benign 0 -48148 Simple 111033422 G . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Retinitis Pigmentosa, Dominant 2016-06-14 -13.2 3.0 Benign/Likely benign 0 -48150 Simple 211043 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48151 Simple 364519 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48152 Simple 147604673 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48153 Simple 11542549 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48154 Simple 35380043 T . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48155 Simple 188384 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48156 Simple 2028572 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48157 Simple 2028573 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48158 Simple 2028574 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48159 Simple 4677728 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48160 Simple 4677729 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48161 Simple 293813 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48167 Simple 116525289 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -48169 Simple 61746568 A . Benign 2 2 not specified 2016-02-29 -8.4 4.0 Benign/Likely benign 1 -48176 Simple 139954767 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -48188 Simple 111033427 C . Benign 2 2 not specified 2015-10-08 -10.2 2.5 Benign/Likely benign 1 -48189 Simple 143141993 G . Likely benign 2 2 not specified 2015-12-22 -5.4 2.0 Likely benign 0 -48201 Simple 201745796 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.44999999999999996 3.5 Uncertain significance 0 -48203 Simple 2272068 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 5.5 Likely benign 1 -48205 Simple 4997760 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 5.5 Likely benign 1 -48206 Simple 73920285 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -48221 Simple 111033478 T . Likely benign 2 1 not specified 2013-05-15 . 4.0 . 0 -48222 Simple 116314622 T . Benign/Likely benign 2 2 not specified 2016-02-11 -6.9 3.0 Likely benign 1 -48223 Simple 73920284 G . Benign/Likely benign 2 2 not specified 2016-02-26 -6.9 6.0 Likely benign 1 -48225 Simple 41288773 C . Benign 2 1 not specified 2011-06-09 . 6.0 . 0 -48234 Simple 80214437 T . Benign 2 1 not specified 2011-06-09 . 6.0 . 0 -48235 Simple 142284613 A . Uncertain significance 2 2 not specified 2017-08-23 -0.5700000000000001 1.0 Uncertain significance 0 -48236 Simple 140454738 A . Uncertain significance 2 2 not specified 2014-12-09 -0.39 5.0 Uncertain significance 0 -48244 Simple 200283244 T . Uncertain significance 2 2 not specified 2016-09-19 -0.54 2.0 Uncertain significance 0 -48248 Simple 111033393 A . Likely benign 2 2 not specified 2016-07-26 -5.1 2.5 Likely benign 0 -48249 Simple 76712142 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 4.0 Likely benign 1 -48253 Simple 199766465 G . Pathogenic/Likely pathogenic 2 2 Deafness, autosomal recessive 9;Nonsyndromic hearing loss and deafness;not provided 2016-05-13 4.8 3.0 Likely pathogenic 1 -48259 Simple 111033349 T . Likely pathogenic 2 1 Nonsyndromic hearing loss and deafness;not provided 2014-06-19 . 3.0 . 0 -48262 Simple 111033329 T . Benign 2 1 not specified 2011-02-24 . 7.0 . 0 -48273 Simple 55639868 A . Benign 2 2 not specified 2015-11-23 -9.0 3.5 Benign/Likely benign 1 -48274 Simple 55886964 A . Benign 2 1 not specified 2008-03-28 . 9.0 . 0 -48279 Simple 6791924 A . Benign/Likely benign 2 12 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;not provided;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-08-21 -46.2 1.5833333333333333 Benign 1 -48280 Simple 41312433 T . Benign/Likely benign 2 11 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -37.8 2.090909090909091 Benign 1 -48281 Simple 369253900 A . Benign/Likely benign 2 3 Brugada syndrome;not specified 2016-05-29 -10.200000000000001 2.6666666666666665 Benign/Likely benign 0 -48282 Simple 41313699 A . Benign/Likely benign 2 10 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-08-04 -36.0 1.4 Benign 1 -48284 Simple 144511230 A . Benign/Likely benign 2 6 Brugada syndrome 1;Long QT syndrome 3;Brugada syndrome;not specified;not provided;Cardiovascular phenotype 2017-07-21 -29.400000000000002 2.1666666666666665 Benign 1 -48286 Simple 41313691 T . Benign/Likely benign 2 8 Brugada syndrome 1;Long QT syndrome 3;Long QT syndrome;Brugada syndrome;not specified;not provided;Cardiovascular phenotype 2017-08-14 -34.8 2.5 Benign 1 -48287 Simple 45624133 G . Benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-17 -14.4 2.6666666666666665 Benign/Likely benign 1 -48289 Simple 1805124 C . Benign/Likely benign 2 11 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;not provided;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -39.0 1.9090909090909092 Benign 1 -48293 Simple 41313681 A . Benign/Likely benign 2 5 Brugada syndrome;not specified;not provided 2017-08-22 -15.3 2.2 Benign/Likely benign 0 -48294 Simple 199473157 T . Uncertain significance 2 2 Primary dilated cardiomyopathy;Cardiomyopathy;Brugada syndrome;not specified;Congenital long QT syndrome 2017-03-07 -0.5700000000000001 1.0 Uncertain significance 0 -48296 Simple 41260344 A . Benign/Likely benign 2 10 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-08-17 -33.6 1.8 Benign 1 -48297 Simple 7430407 C . Benign/Likely benign 2 10 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -33.6 1.9 Benign 1 -48298 Simple 1805125 A . Benign/Likely benign 2 5 Brugada syndrome;not specified;not provided;Cardiovascular phenotype 2017-08-18 -20.400000000000002 3.4 Benign/Likely benign 0 -48301 Simple 45533640 A . Benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-07-27 -16.8 1.3333333333333333 Benign/Likely benign 1 -48302 Simple 377173580 T . Benign/Likely benign 2 2 not specified 2015-05-22 -7.2 3.5 Likely benign 1 -48303 Simple 397517954 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2015-11-30 -4.5 3.5 Likely benign 0 -48304 Simple 41315495 A . Benign/Likely benign 2 10 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-08-21 -36.0 1.4 Benign 1 -48306 Simple 41311087 T . Uncertain significance 2 2 not specified;Congenital long QT syndrome 2017-01-12 -0.54 2.0 Uncertain significance 0 -48307 Simple 1805126 G . Benign/Likely benign 2 11 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -37.8 2.090909090909091 Benign 1 -48309 Simple 369058100 T . Uncertain significance 2 2 Brugada syndrome 1;not specified 2017-02-09 -0.51 2.5 Uncertain significance 0 -48311 Simple 13324293 A . Benign/Likely benign 2 11 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-08-14 -40.2 1.6363636363636365 Benign 1 -48312 Simple 397517956 T . Uncertain significance 2 4 Brugada syndrome;not specified;Cardiovascular phenotype 2017-01-21 -1.05 2.25 Uncertain significance 0 -48313 Simple 199473638 A . Uncertain significance 2 2 not specified;not provided 2016-10-31 -0.48 3.0 Uncertain significance 0 -48314 Simple 397517957 A . Likely benign 2 3 Brugada syndrome;not specified 2016-12-12 -7.5 2.6666666666666665 Likely benign 0 -48315 Simple 41311117 G . Benign/Likely benign 2 7 Brugada syndrome 1;Long QT syndrome 3;Long QT syndrome;Brugada syndrome;not specified;not provided;Cardiovascular phenotype 2017-08-11 -22.8 2.4285714285714284 Benign/Likely benign 0 -48316 Simple 41285129 A . Benign/Likely benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-17 -12.3 2.3333333333333335 Benign/Likely benign 0 -48318 Simple 6599230 C . Benign/Likely benign 2 11 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -39.6 1.8181818181818181 Benign 1 -48320 Simple 11537578 A . Benign 2 2 Primary dilated cardiomyopathy;not specified 2017-08-08 -9.6 2.5 Benign/Likely benign 1 -48321 Simple 199943518 A . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2017-03-30 -7.8 2.5 Likely benign 1 -48322 Simple 139644436 A . Benign 2 2 Primary dilated cardiomyopathy;not specified 2017-06-20 -9.6 2.5 Benign/Likely benign 1 -48324 Simple 397517960 G . Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2017-05-13 -4.5 3.0 Likely benign 0 -48325 Simple 113188481 T . Benign 2 2 Primary dilated cardiomyopathy;not specified 2017-08-04 -9.0 3.0 Benign/Likely benign 1 -48326 Simple 137869171 A . Benign 2 2 Primary dilated cardiomyopathy;not specified 2017-07-31 -9.6 2.5 Benign/Likely benign 1 -48328 Simple 115841332 C . Benign 2 2 Primary dilated cardiomyopathy;not specified 2017-01-17 -9.6 3.0 Benign/Likely benign 1 -48337 Simple 142849754 C . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -48338 Simple 112791865 TCTC . Benign/Likely benign 2 2 not specified 2016-08-03 -7.8 3.0 Likely benign 1 -48339 Simple 7779997 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -48341 Simple 117444825 C . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -48343 Simple 397517964 - . Pathogenic 2 3 Usher syndrome, type 2A;Retinitis pigmentosa 39 2015-10-01 13.8 3.3333333333333335 Pathogenic/Likely pathogenic 1 -48344 Simple 10864198 G . Benign 2 3 not specified 2013-03-06 -10.2 5.333333333333333 Benign/Likely benign 1 -48347 Simple 369522997 G . Likely pathogenic 2 3 Usher syndrome, type 2A;Retinitis pigmentosa 39 2016-08-18 7.8 2.3333333333333335 Likely pathogenic 0 -48357 Simple 111033418 A . Pathogenic/Likely pathogenic 2 2 Usher syndrome, type 2A;not provided 2017-11-07 7.5 4.0 Likely pathogenic 1 -48359 Simple 61276761 T . Benign 2 2 not specified 2014-09-15 -7.8 5.0 Likely benign 2 -48360 Simple 12073994 A . Benign 2 2 not specified 2013-04-04 -7.800000000000001 4.5 Likely benign 2 -48361 Simple 145207584 C . Benign 2 2 not specified 2014-09-15 -7.8 4.5 Likely benign 2 -48372 Simple 12095085 A . Benign 2 2 not specified 2011-08-18 -6.0 8.0 Likely benign 2 -48377 Simple 11120616 A . Benign 2 2 not specified 2013-08-19 -7.2 7.0 Likely benign 2 -48378 Simple 35309576 C . Benign 2 3 not specified 2014-06-26 -12.0 5.666666666666667 Benign/Likely benign 1 -48380 Simple 41303285 T . Benign 2 2 not specified 2014-01-30 -7.2 6.0 Likely benign 2 -48381 Simple 56053654 T . Benign 2 2 not specified 2011-08-12 -6.0 7.0 Likely benign 2 -48384 Simple 61635304 A . Benign 2 2 not specified 2011-08-12 -6.0 7.0 Likely benign 2 -48387 Simple 2820718 T . Benign 2 4 not specified 2016-11-10 -16.8 5.0 Benign/Likely benign 1 -48390 Simple 397517978 C . Pathogenic 2 3 Usher syndrome, type 2A;Retinitis pigmentosa 39;not provided 2016-05-10 15.600000000000001 2.3333333333333335 Pathogenic 0 -48391 Simple 55921307 A . Benign/Likely benign 2 3 not specified 2015-02-20 -9.6 4.333333333333333 Benign/Likely benign 0 -48399 Simple 115884084 G . Benign 2 3 not specified;not provided 2017-04-11 -15.6 2.0 Benign/Likely benign 1 -48402 Simple 148556640 C . Benign/Likely benign 2 3 not specified 2016-11-30 -12.0 2.6666666666666665 Benign/Likely benign 0 -48403 Simple 2797234 C . Benign 2 3 not specified 2015-01-21 -10.8 6.333333333333333 Benign/Likely benign 1 -48412 Simple 111033385 T . Pathogenic/Likely pathogenic 2 4 Usher syndrome, type 2A;Retinitis pigmentosa 39 2016-08-18 18.9 3.5 Pathogenic 1 -48413 Simple 2009923 T . Benign 2 3 not specified 2014-07-22 -10.8 6.333333333333333 Benign/Likely benign 1 -48415 Simple 111033381 A . Benign 2 2 not specified;not provided 2014-07-22 -7.8 5.0 Likely benign 2 -48422 Simple 730254 T . Benign/Likely benign 2 2 not specified 2015-10-29 -5.7 4.0 Likely benign 1 -48423 Simple 78253373 T . Benign 2 3 not specified 2017-04-28 -14.4 2.6666666666666665 Benign/Likely benign 1 -48427 Simple 45549044 T . Benign/Likely benign 2 3 not specified 2016-06-28 -12.0 2.6666666666666665 Benign/Likely benign 0 -48431 Simple 1805050 A . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -12.0 4.5 Benign/Likely benign 0 -48436 Simple 113447586 T . Benign 2 2 not specified 2017-04-28 -9.0 3.0 Benign/Likely benign 1 -48437 Simple 35730265 G . Benign 2 2 not specified 2014-09-22 -7.8 5.5 Likely benign 2 -48438 Simple 41304083 A . Benign 2 3 not specified 2014-05-21 -10.8 5.333333333333333 Benign/Likely benign 1 -48439 Simple 41315587 T . Benign 2 3 not specified 2014-05-21 -10.8 5.333333333333333 Benign/Likely benign 1 -48441 Simple 397517991 T . Benign/Likely benign 2 2 not specified 2015-12-31 -6.300000000000001 3.5 Likely benign 1 -48442 Simple 143275144 G . Uncertain significance 2 2 not specified 2017-10-31 -0.48 2.5 Uncertain significance 0 -48444 Simple 77211159 T . Benign 2 3 not specified 2016-08-02 -12.0 4.666666666666667 Benign/Likely benign 1 -48451 Simple 111033498 A . Benign 2 3 not specified 2016-04-27 -13.8 3.3333333333333335 Benign/Likely benign 1 -48453 Simple 41308435 C . Benign 2 3 not specified 2014-05-21 -10.8 5.333333333333333 Benign/Likely benign 1 -48455 Simple 56038610 A . Benign 2 2 not specified;not provided 2014-01-30 -8.4 4.0 Benign/Likely benign 1 -48459 Simple 57754754 C . Benign 2 2 not specified 2014-04-25 -8.4 4.0 Benign/Likely benign 1 -48462 Simple 111033266 G . Benign 2 3 not specified 2015-05-20 -12.0 4.333333333333333 Benign/Likely benign 1 -48463 Simple 111033435 T . Benign 2 3 not specified 2015-11-23 -12.600000000000001 4.0 Benign/Likely benign 1 -48467 Simple 77792891 G . Benign 2 2 not specified 2011-10-12 -6.0 6.0 Likely benign 2 -48468 Simple 58257972 C . Benign 2 2 not specified 2014-05-21 -7.8 5.0 Likely benign 2 -48469 Simple 199672621 C . Uncertain significance 2 2 not specified;not provided 2017-02-28 -0.44999999999999996 4.0 Uncertain significance 0 -48476 Simple 397518003 C . Pathogenic 2 2 Usher syndrome, type 2A;USH2A-Related Disorders 2016-06-14 9.6 3.0 Pathogenic/Likely pathogenic 1 -48478 Simple 1805048 A . Benign 2 2 not specified;not provided 2011-08-02 -6.0 8.0 Likely benign 2 -48483 Simple 45555435 G . Benign 2 2 not specified 2011-08-25 -6.0 7.0 Likely benign 2 -48484 Simple 696723 G . Benign/Likely benign 2 6 Retinitis pigmentosa-deafness syndrome;not specified;not provided;Retinitis Pigmentosa, Recessive 2017-05-01 -25.2 2.8333333333333335 Benign 1 -48488 Simple 111033481 T . Benign 2 2 not specified 2016-07-12 -9.0 3.5 Benign/Likely benign 1 -48500 Simple 148135241 C . Benign 2 2 not specified 2013-11-19 -7.800000000000001 4.5 Likely benign 2 -48504 Simple 397518014 - . Pathogenic/Likely pathogenic 2 3 Usher syndrome, type 2A;Retinitis pigmentosa 39 2015-12-16 8.4 3.3333333333333335 Pathogenic/Likely pathogenic 0 -48507 Simple 10779261 T . Benign 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -25.2 3.4 Benign 0 -48508 Simple 646094 C . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -13.2 4.0 Benign/Likely benign 0 -48510 Simple 41303257 G . Benign 2 2 not specified 2011-08-02 -6.0 6.5 Likely benign 2 -48515 Simple 56013136 T . Benign 2 2 not specified 2011-07-13 -6.0 7.0 Likely benign 2 -48522 Simple 111033479 T . Likely benign 2 3 not specified 2017-06-01 -6.9 3.0 Likely benign 0 -48525 Simple 56222536 G . Benign 2 2 not specified 2013-01-07 -6.6 7.5 Likely benign 2 -48527 Simple 56110889 T . Benign 2 3 not specified 2015-05-06 -12.600000000000001 5.333333333333333 Benign/Likely benign 1 -48528 Simple 4253963 C . Benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -18.6 4.25 Benign/Likely benign 1 -48556 Simple 56245532 C . Benign 2 2 not specified 2015-02-16 -7.8 4.5 Likely benign 2 -48560 Simple 111033472 A . Benign 2 2 not specified 2017-03-16 -9.0 3.0 Benign/Likely benign 1 -48562 Simple 10864219 G . Benign 2 3 not specified 2014-06-26 -12.0 5.666666666666667 Benign/Likely benign 1 -48563 Simple 373604102 C . Benign/Likely benign 2 2 not specified 2016-07-14 -7.5 3.5 Likely benign 1 -48565 Simple 79444516 G . Benign 2 2 not specified 2015-02-06 -7.8 5.0 Likely benign 2 -48568 Simple 41277212 G . Benign 2 4 not specified;not provided 2016-09-14 -16.8 4.5 Benign/Likely benign 1 -48571 Simple 41277210 T . Benign 2 2 not specified;not provided 2013-10-17 -7.2 6.0 Likely benign 2 -48572 Simple 45500891 T . Benign/Likely benign 2 3 not specified;not provided 2014-09-22 -11.4 5.666666666666667 Benign/Likely benign 0 -48575 Simple 111033508 A . Uncertain significance 2 2 not specified 2016-09-14 -0.51 2.5 Uncertain significance 0 -48576 Simple 200038092 C . Uncertain significance 2 2 Usher syndrome, type 2A;not specified 2016-03-18 -0.48 3.0 Uncertain significance 0 -48584 Simple 12404427 T . Benign 2 3 not specified 2013-04-05 -10.8 6.333333333333333 Benign/Likely benign 1 -48585 Simple 78250390 A . Benign 2 1 not specified;not provided 2012-02-20 . 6.0 . 0 -48586 Simple 370155266 C . Uncertain significance 2 2 not specified 2014-02-18 -0.39 4.5 Uncertain significance 0 -48589 Simple 56385601 G . Benign 2 2 not specified 2015-02-05 -8.4 4.0 Benign/Likely benign 1 -48604 Simple 397518039 C . Pathogenic 2 2 Usher syndrome, type 2A;Retinitis pigmentosa 2015-10-03 8.4 4.0 Pathogenic/Likely pathogenic 1 -48606 Simple 12118814 T . Benign 2 1 not specified 2009-06-24 . 8.0 . 0 -48607 Simple 41277200 A . Benign 2 3 not specified;not provided 2016-07-22 -14.4 3.6666666666666665 Benign/Likely benign 1 -48615 Simple 397518043 TGGCTGGC . Pathogenic 2 5 Usher syndrome, type 2A;Retinitis pigmentosa;Retinitis pigmentosa 39;Usher syndrome 2016-11-08 28.2 1.6 Pathogenic 0 -48618 Simple 56056328 T . Benign 2 3 not specified 2015-04-28 -13.200000000000001 3.6666666666666665 Benign/Likely benign 1 -48620 Simple 41277194 C . Benign 2 2 not specified 2014-05-27 -7.8 5.5 Likely benign 2 -48623 Simple 56032526 C . Benign 2 2 not specified;not provided 2014-05-06 -7.8 5.5 Likely benign 2 -48631 Simple 4129843 C . Benign 2 2 not specified 2011-08-18 -6.0 7.5 Likely benign 2 -48672 Simple 121908749 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -48674 Simple 121908763 G . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -48680 Simple 121908792 A . Pathogenic 3 5 Cystic fibrosis;Hereditary pancreatitis;not provided 2017-03-17 27.0 2.0 Pathogenic 0 -48681 Simple 121908794 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -48684 Simple 121908801 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -48685 Simple 121908796 T . Pathogenic 3 3 Cystic fibrosis 2017-03-17 15.3 1.0 Pathogenic 0 -48688 Simple 77834169 T . Pathogenic 3 3 Cystic fibrosis 2017-03-17 18.0 1.0 Pathogenic 0 -48692 Simple 80282562 A . Pathogenic, drug response 3 3 Cystic fibrosis;not provided;ivacaftor response - Efficacy 2017-05-21 18.0 0.6666666666666666 Pathogenic 0 -48700 Simple 121908772 - . Pathogenic 3 4 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 19.8 2.5 Pathogenic 0 -48708 Simple 79031340 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -48727 Simple 118203483 A . Benign/Likely benign 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -48736 Simple 118203492 C . Benign/Likely benign 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -11.7 1.0 Benign/Likely benign 0 -48737 Simple 80258442 C . Benign/Likely benign 2 4 Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -48751 Simple 118203504 A . Benign/Likely benign 2 6 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-23 -24.0 0.6666666666666666 Benign 1 -48755 Simple 118203335 G . Benign/Likely benign 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -11.4 1.3333333333333333 Benign/Likely benign 0 -48765 Simple 118203515 C . Benign/Likely benign 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-09-27 -9.0 0.0 Benign/Likely benign 0 -48768 Simple 7862221 C . Benign/Likely benign 2 7 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -35.4 2.4285714285714284 Benign 1 -48770 Simple 118203518 A . Benign/Likely benign 2 5 Tuberous sclerosis 1;Focal cortical dysplasia type II;Autism spectrum disorders;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -21.0 1.8 Benign/Likely benign 0 -48791 Simple 118203537 A . Pathogenic 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided 2017-03-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -48796 Simple 118203542 A . Pathogenic 2 4 Lymphangiomyomatosis;Tuberous sclerosis 1;Malignant tumor of urinary bladder;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not provided 2017-05-18 22.8 1.25 Pathogenic 0 -48797 Simple 118203543 T . Benign/Likely benign 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -12.0 0.6666666666666666 Benign/Likely benign 0 -48803 Simple 118203548 G . Uncertain significance 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-09-12 -0.6 0.5 Uncertain significance 0 -48821 Simple 118203567 G . Benign/Likely benign 2 6 Tuberous sclerosis 1;Malignant tumor of urinary bladder;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -25.8 2.0 Benign 1 -48885 Simple 118203631 A . Pathogenic 2 4 Tuberous sclerosis 1;Malignant tumor of urinary bladder;Tuberous sclerosis syndrome;not provided 2017-02-23 21.6 2.0 Pathogenic 0 -48905 Simple 118203645 - . Pathogenic 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided 2017-06-19 11.4 1.0 Pathogenic/Likely pathogenic 1 -48943 Simple 118203682 A . Pathogenic 2 4 Tuberous sclerosis 1;Tuberous sclerosis syndrome;Seizures;not provided;Hereditary cancer-predisposing syndrome;Cardiac rhabdomyoma;Hamartoma 2017-06-30 23.4 1.0 Pathogenic 0 -48948 Simple 11243931 G . Benign 2 1 Tuberous sclerosis syndrome;not specified 2016-04-25 . 1.0 . 0 -48954 Simple 118203692 G . Benign/Likely benign 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-09-22 -9.0 0.0 Benign/Likely benign 0 -48971 Simple 118203707 - . Pathogenic 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;Seizures;not provided;Multiple renal cysts;Cortical tubers 2017-07-21 15.6 2.0 Pathogenic 0 -48972 Simple 118203357 T . Benign/Likely benign 2 4 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -19.8 1.0 Benign/Likely benign 0 -48985 Simple 118203721 T . Benign/Likely benign 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -12.0 0.0 Benign/Likely benign 0 -48991 Simple 118203727 A . Pathogenic 2 2 Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-12-09 10.8 2.0 Pathogenic/Likely pathogenic 1 -48992 Simple 118203728 A . Pathogenic 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-03-04 12.0 1.0 Pathogenic/Likely pathogenic 1 -49006 Simple 4962081 A . Benign/Likely benign 2 7 Lymphangiomyomatosis;Tuberous sclerosis 1;Malignant tumor of urinary bladder;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -36.0 2.2857142857142856 Benign 1 -49008 Simple 45468995 A . Benign/Likely benign 2 8 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -28.8 2.125 Benign 1 -49016 Simple 118203746 T . Benign/Likely benign 2 2 Lymphangiomyomatosis;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified 2017-07-19 -7.8 1.5 Likely benign 1 -49019 Simple 116747861 T . Benign/Likely benign 2 5 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-08-10 -23.4 0.8 Benign/Likely benign 0 -49020 Simple 118203750 T . Uncertain significance 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -49021 Simple 118203751 T . Benign/Likely benign 2 3 Tuberous sclerosis 1;Malignant tumor of urinary bladder;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -11.4 1.3333333333333333 Benign/Likely benign 0 -49024 Simple 35593170 A . Benign/Likely benign 2 6 Tuberous sclerosis 1;Malignant tumor of urinary bladder;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -31.8 2.0 Benign 1 -49054 Simple 118203397 G . Benign/Likely benign 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -14.4 1.0 Benign/Likely benign 0 -49055 Simple 118203398 A . Likely benign 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified 2016-07-28 -6.0 1.0 Likely benign 0 -49057 Simple 118203400 A . Benign/Likely benign 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -12.0 0.0 Benign/Likely benign 0 -49071 Simple 118203414 G . Benign/Likely benign 2 4 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -19.2 1.75 Benign/Likely benign 0 -49072 Simple 118203415 G . Benign/Likely benign 2 6 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -21.9 1.5 Benign/Likely benign 0 -49083 Simple 118203427 A . Pathogenic 2 4 Lymphangiomyomatosis;Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not provided 2017-05-18 22.8 1.25 Pathogenic 0 -49091 Simple 118203434 A . Pathogenic 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-27 16.8 1.0 Pathogenic 0 -49094 Simple 118203436 T . Uncertain significance 2 2 Tuberous sclerosis syndrome;not specified 2015-03-30 -0.51 2.5 Uncertain significance 0 -49120 Simple 118203464 - . Pathogenic 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome 2014-12-18 9.6 3.0 Pathogenic/Likely pathogenic 1 -49130 Simple 118203474 A . Pathogenic 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided 2016-02-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -49135 Simple 118203478 AA . Pathogenic 2 4 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided;Renal insufficiency;Hereditary cancer-predisposing syndrome;Renal cortical cysts;Cortical dysplasia 2016-12-14 22.2 1.75 Pathogenic 0 -49141 Simple 1800742 A . Benign/Likely benign 2 7 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -31.2 2.5714285714285716 Benign 1 -49150 Simple 45478593 T . Benign/Likely benign 2 6 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -26.7 1.6666666666666667 Benign 1 -49151 Simple 137854360 - . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-08-02 12.0 0.0 Pathogenic/Likely pathogenic 1 -49153 Simple 45517169 T . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-05-26 16.2 1.6666666666666667 Pathogenic 0 -49154 Simple 45517170 T . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -22.2 1.0 Benign/Likely benign 0 -49162 Simple 34012042 T . Benign/Likely benign 2 5 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -21.0 2.8 Benign/Likely benign 0 -49163 Simple 45517180 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-23 -15.6 2.0 Benign/Likely benign 0 -49212 Simple 35660529 T . Benign/Likely benign 2 3 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-08 -12.0 0.0 Benign/Likely benign 0 -49214 Simple 13331451 T . Benign 2 3 Tuberous sclerosis syndrome;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -49216 Simple 45517247 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -12.0 0.3333333333333333 Benign/Likely benign 0 -49217 Simple 45485999 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -13.8 1.3333333333333333 Benign/Likely benign 0 -49225 Simple 45482691 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -16.8 1.0 Benign/Likely benign 0 -49229 Simple 45517264 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -12.0 0.3333333333333333 Benign/Likely benign 0 -49240 Simple 45465195 T . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-05-25 18.0 0.6666666666666666 Pathogenic 0 -49241 Simple 45491698 C . Pathogenic/Likely pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2017-05-03 8.7 1.0 Pathogenic/Likely pathogenic 0 -49251 Simple 45478393 A . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-02-06 -5.4 2.0 Likely benign 0 -49257 Simple 45451497 T . Pathogenic 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-09 22.2 1.5 Pathogenic 0 -49271 Simple 45486193 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-10 -11.4 1.0 Benign/Likely benign 0 -49280 Simple 11551373 A . Benign/Likely benign 2 6 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -27.0 2.3333333333333335 Benign 1 -49281 Simple 45517325 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-08-04 -18.0 2.0 Benign/Likely benign 0 -49282 Simple 45462593 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-06-02 -8.7 1.0 Benign/Likely benign 0 -49289 Simple 45438898 A . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -18.0 2.2 Benign/Likely benign 0 -49292 Simple 45487992 A . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -15.9 1.75 Benign/Likely benign 0 -49293 Simple 45517338 G . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.6 0.5 Uncertain significance 0 -49302 Simple 137854239 - . Benign/Likely benign 2 8 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-21 -42.0 1.125 Benign 1 -49304 Simple 137854175 - . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2016-06-21 16.2 2.0 Pathogenic 0 -49317 Simple 45437192 T . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-05-22 -6.0 0.5 Likely benign 0 -49328 Simple 45473598 T . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-02-13 -6.0 1.0 Likely benign 0 -49335 Simple 45517382 G . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-09-25 12.0 0.5 Pathogenic/Likely pathogenic 1 -49367 Simple 45517414 T . Pathogenic 2 2 Tuberous sclerosis syndrome;not provided 2016-12-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -49370 Simple 137854214 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -12.0 0.0 Benign/Likely benign 0 -49382 Simple 45473698 G . Benign/Likely benign 2 8 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -27.3 2.625 Benign 1 -49393 Simple 137853986 AG . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-07-19 -5.4 1.5 Likely benign 0 -49395 Simple 45517141 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -12.0 2.6666666666666665 Benign/Likely benign 0 -49396 Simple 45517150 A . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-07-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -49399 Simple 45442896 A . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -18.0 2.0 Benign/Likely benign 0 -49425 Simple 45517399 A . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-02-20 9.6 3.0 Pathogenic/Likely pathogenic 1 -49431 Simple 1800718 C . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-04-14 -21.0 2.0 Benign/Likely benign 0 -49447 Simple 137853977 - . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2016-10-12 15.6 2.3333333333333335 Pathogenic 0 -49451 Simple 45514196 A . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -18.6 1.8 Benign/Likely benign 0 -49456 Simple 45517392 A . Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -8.7 0.6666666666666666 Benign/Likely benign 1 -49467 Simple 35534817 T . Benign/Likely benign 2 6 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -26.4 2.5 Benign 1 -49471 Simple 45517412 T . Pathogenic 2 6 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 33.6 1.3333333333333333 Pathogenic 0 -49477 Simple 45457095 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-08-21 -12.6 2.0 Benign/Likely benign 0 -49482 Simple 45443002 A . Likely benign 2 1 Tuberous sclerosis syndrome;not specified 2017-04-06 . 0.0 . 0 -49503 Simple 45517331 T . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -17.1 2.6 Benign/Likely benign 0 -49504 Simple 35986575 T . Benign/Likely benign 2 8 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -34.5 2.0 Benign 1 -49513 Simple 45517317 G . Benign/Likely benign 2 2 Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-02-04 -10.2 2.5 Benign/Likely benign 0 -49524 Simple 45517337 T . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-10-19 10.8 1.5 Pathogenic/Likely pathogenic 1 -49526 Simple 45467194 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-07-28 -10.2 2.0 Benign/Likely benign 0 -49530 Simple 45517106 T . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-07-01 -5.4 1.5 Likely benign 0 -49543 Simple 45471697 T . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-07-03 -6.0 0.5 Likely benign 0 -49551 Simple 34870424 T . Benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 -25.8 2.2 Benign 0 -49553 Simple 45487691 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -14.4 1.0 Benign/Likely benign 0 -49565 Simple 45517284 C . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -12.0 0.0 Benign/Likely benign 0 -49568 Simple 137854001 - . Pathogenic 2 2 Tuberous sclerosis syndrome;not provided 2017-04-25 12.0 0.5 Pathogenic/Likely pathogenic 1 -49572 Simple 45517098 T . Benign/Likely benign 2 6 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -27.0 1.6666666666666667 Benign 1 -49573 Simple 13337626 C . Benign/Likely benign 2 5 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -22.2 2.4 Benign/Likely benign 0 -49592 Simple 137854128 - . Likely pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2016-05-30 5.7 1.5 Likely pathogenic 0 -49597 Simple 45517215 C . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -49611 Simple 45517221 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -18.0 2.0 Benign/Likely benign 0 -49626 Simple 45517242 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided 2016-11-07 -15.0 1.0 Benign/Likely benign 0 -49633 Simple 45517174 G . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-06-07 9.6 2.5 Pathogenic/Likely pathogenic 1 -49643 Simple 45469298 T . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-18 18.0 0.6666666666666666 Pathogenic 0 -49646 Simple 45517182 A . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2016-11-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -49660 Simple 137854154 A . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -23.1 1.2 Benign/Likely benign 0 -49662 Simple 13332015 A . Benign/Likely benign 2 1 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2016-06-14 . 1.0 . 0 -49666 Simple 45517155 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -49671 Simple 45517188 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -49674 Simple 45517171 G . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -19.8 1.2 Benign/Likely benign 0 -49685 Simple 45478892 A . Benign/Likely benign 2 8 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-21 -32.7 1.75 Benign 1 -49716 Simple 45512398 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -16.2 1.75 Benign/Likely benign 0 -49718 Simple 45517272 G . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -16.2 1.5 Benign/Likely benign 0 -49725 Simple 137853995 C . Pathogenic/Likely pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2015-09-18 7.5 2.5 Likely pathogenic 1 -49730 Simple 45517212 A . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2016-01-11 10.8 2.0 Pathogenic/Likely pathogenic 1 -49738 Simple 45517099 T . Pathogenic 2 3 Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 18.0 0.3333333333333333 Pathogenic 0 -49739 Simple 36078782 C . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -24.0 1.6 Benign 1 -49740 Simple 36078782 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -13.2 2.0 Benign/Likely benign 0 -49742 Simple 45517172 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-29 -13.8 1.0 Benign/Likely benign 0 -49754 Simple 45517295 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -14.1 1.5 Benign/Likely benign 0 -49770 Simple 45438205 T . Pathogenic 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-09-14 21.0 2.0 Pathogenic 0 -49772 Simple 137854410 T . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-03-08 -0.6 0.5 Uncertain significance 0 -49773 Simple 45517277 A . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -15.6 2.0 Benign/Likely benign 0 -49791 Simple 45491597 G . Likely benign 2 1 Tuberous sclerosis syndrome;not specified 2016-09-29 . 1.0 . 0 -49818 Simple 45517384 T . Benign/Likely benign 2 5 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -23.4 1.8 Benign/Likely benign 0 -49847 Simple 1051771 C . Benign/Likely benign 2 3 Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -49854 Simple 45515893 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-08-11 -19.2 1.5 Benign/Likely benign 0 -49855 Simple 45448994 T . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2016-06-20 -0.5700000000000001 1.5 Uncertain significance 0 -49856 Simple 45517350 T . Uncertain significance 2 2 Tuberous sclerosis syndrome;not provided 2017-05-19 -0.6 0.5 Uncertain significance 0 -49867 Simple 45517409 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -49890 Simple 137853984 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-06-10 -9.0 0.5 Benign/Likely benign 0 -49892 Simple 45443205 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -13.8 1.3333333333333333 Benign/Likely benign 0 -49895 Simple 1748 C . Benign/Likely benign 2 4 Lymphangiomyomatosis;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -19.8 2.75 Benign/Likely benign 0 -49899 Simple 137854000 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-10 -17.1 1.25 Benign/Likely benign 0 -49922 Simple 45466296 A . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2014-10-13 9.0 3.5 Pathogenic/Likely pathogenic 1 -49925 Simple 45517343 C . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2016-11-30 -0.6 1.0 Uncertain significance 0 -49930 Simple 45517395 A . Pathogenic/Likely pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-02 15.0 0.6666666666666666 Pathogenic 1 -49953 Simple 45517113 A . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-07-18 -4.8 2.5 Likely benign 0 -49957 Simple 1800720 T . Benign/Likely benign 2 4 Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Neoplasm of brain;Hereditary cancer-predisposing syndrome 2017-04-14 -20.4 2.25 Benign/Likely benign 0 -49960 Simple 45507199 A . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-05-11 16.8 1.3333333333333333 Pathogenic 0 -49975 Simple 45517416 T . Benign/Likely benign 2 3 Tuberous sclerosis syndrome;not specified 2016-06-14 -9.9 2.3333333333333335 Benign/Likely benign 0 -49976 Simple 13332222 G . Benign 2 1 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-05-08 . 0.0 . 0 -49981 Simple 137854249 - . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2017-06-06 10.8 1.5 Pathogenic/Likely pathogenic 1 -49986 Simple 45517340 T . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2015-11-23 16.200000000000003 2.0 Pathogenic 0 -49995 Simple 45517345 T . Benign/Likely benign 2 1 Tuberous sclerosis syndrome;not specified 2013-09-04 . 4.0 . 0 -50002 Simple 35118875 A . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -18.6 1.75 Benign/Likely benign 0 -50004 Simple 45475501 A . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -19.2 1.6 Benign/Likely benign 0 -50009 Simple 1800748 G . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -21.6 2.6 Benign/Likely benign 0 -50019 Simple 45517354 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -12.6 2.3333333333333335 Benign/Likely benign 0 -50020 Simple 45517311 T . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-01-13 -0.6 1.0 Uncertain significance 0 -50023 Simple 45480591 A . Benign/Likely benign 2 2 Tuberous sclerosis syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -50027 Simple 45517316 G . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-08-11 -12.6 2.0 Benign/Likely benign 0 -50034 Simple 137854391 G . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-07-10 -5.7 1.0 Likely benign 0 -50045 Simple 45468491 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -11.7 0.6666666666666666 Benign/Likely benign 0 -50062 Simple 45466399 A . Benign/Likely benign 2 7 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -32.1 1.1428571428571428 Benign 1 -50068 Simple 45483700 A . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -21.0 2.0 Benign/Likely benign 0 -50076 Simple 137854314 - . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2013-06-18 7.800000000000001 4.5 Likely pathogenic 2 -50116 Simple 137853994 T . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -17.7 0.8 Benign/Likely benign 0 -50131 Simple 45517222 T . Pathogenic 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-10-06 16.8 1.0 Pathogenic 0 -50139 Simple 45517185 T . Benign/Likely benign 2 3 Lymphangiomyomatosis;Tuberous sclerosis syndrome;not specified 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -50148 Simple 45462194 A . Likely pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2016-03-24 5.7 1.5 Likely pathogenic 0 -50164 Simple 45517154 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -8.7 1.0 Benign/Likely benign 0 -50181 Simple 45517162 A . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-02-13 -5.4 2.0 Likely benign 0 -50185 Simple 45446697 A . Likely benign 2 1 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-04-06 . 0.0 . 0 -50189 Simple 45490792 C . Benign/Likely benign 2 6 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -20.1 1.0 Benign/Likely benign 0 -50793 Simple 143739249 T . Pathogenic 2 2 Microcephaly-capillary malformation syndrome;not provided 2015-06-14 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -50935 Simple 368233443 T . Benign/Likely benign 2 2 not specified 2014-07-31 -6.6 3.5 Likely benign 1 -50936 Simple 397517057 T . Uncertain significance 2 9 Familial hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5;Atrial septal defect;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-04 -2.4899999999999998 1.6666666666666667 Uncertain significance 0 -50937 Simple 397517072 A . Uncertain significance 2 2 not specified 2017-10-23 -0.48 2.5 Uncertain significance 0 -50938 Simple 146618055 A . Likely benign 3 3 not specified;Rasopathy 2017-05-09 -10.5 2.0 Benign/Likely benign 1 -50939 Simple 370736371 T . Likely benign 2 2 not specified 2016-07-14 -4.5 5.0 Likely benign 0 -50940 Simple 397517416 T . Benign/Likely benign 2 2 not specified 2015-07-14 -6.9 4.5 Likely benign 1 -50961 Simple 587776982 - . Pathogenic/Likely pathogenic 2 3 not provided;Congenital disorder of deglycosylation 2017-07-25 14.4 1.0 Pathogenic/Likely pathogenic 0 -50962 Simple 201337954 A . Pathogenic 2 3 not provided;Congenital disorder of deglycosylation 2017-08-16 17.4 0.6666666666666666 Pathogenic 0 -51029 Simple 181008242 G . Likely benign 2 2 Cystic fibrosis;not specified 2017-04-04 -6.0 0.5 Likely benign 0 -51031 Simple 73717525 T . Uncertain significance 2 2 Cystic fibrosis;not specified 2017-05-24 -0.6 0.5 Uncertain significance 0 -51033 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -51036 Simple 80358388 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2014-12-24 -0.48 3.0 Uncertain significance 0 -51038 Simple 80358389 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-01 -0.5700000000000001 1.5 Uncertain significance 0 -51041 Simple 80358391 T . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 20.4 1.5 Pathogenic 0 -51043 Simple 28897762 A . Benign 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -64.5 1.6666666666666667 Benign 0 -51045 Simple 41293473 T . Likely benign 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -34.980000000000004 1.4545454545454546 Benign 2 -51046 Simple 80358395 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -51048 Simple 80358396 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -51050 Simple 80358397 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-10-05 -0.54 2.0 Uncertain significance 0 -51054 Simple 276174804 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-12-25 -0.54 2.0 Uncertain significance 0 -51057 Simple 80358404 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-04-20 -0.51 2.0 Uncertain significance 0 -51058 Simple 80359779 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -51059 Simple 80358406 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-14 -0.5700000000000001 1.0 Uncertain significance 0 -51062 Simple 397507570 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -51063 Simple 397507571 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not specified 2016-10-18 15.0 1.3333333333333333 Pathogenic 0 -51064 Simple 80358407 A . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 39.0 1.7142857142857142 Pathogenic 0 -51065 Simple 397507572 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51066 Simple 80358408 T . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -24.84 1.6666666666666667 Benign 0 -51069 Simple 80359263 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51070 Simple 80359264 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -51071 Simple 80359265 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -51072 Simple 80359780 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51073 Simple 80358411 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51074 Simple 397507573 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 29.4 1.4 Pathogenic 0 -51079 Simple 80359781 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51080 Simple 397515635 TTAG . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 53.4 0.7777777777777778 Pathogenic 0 -51081 Simple 80358413 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51083 Simple 276174807 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.8 Benign/Likely benign 1 -51084 Simple 80359267 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -51085 Simple 80358415 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.5 Uncertain significance 0 -51087 Simple 80359268 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51088 Simple 80359270 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51090 Simple 80358417 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.2 0.75 Uncertain significance 0 -51092 Simple 80358419 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51093 Simple 34355306 G . Benign 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -61.980000000000004 1.9166666666666667 Benign 0 -51094 Simple 80359274 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -51095 Simple 80359782 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -51096 Simple 80359275 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51097 Simple 397507577 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51098 Simple 80359278 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51100 Simple 80358420 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -51102 Simple 397507579 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 24.6 2.0 Pathogenic 0 -51105 Simple 80358422 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -1.08 1.75 Uncertain significance 0 -51106 Simple 80358423 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-04-03 -0.5700000000000001 1.5 Uncertain significance 0 -51107 Simple 80358424 A . Benign 3 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -6.24 1.0 Likely benign 2 -51108 Simple 55919657 G . Benign 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -38.7 1.6666666666666667 Benign 0 -51109 Simple 397507582 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-10-18 23.4 1.5 Pathogenic 0 -51110 Simple 397507583 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51111 Simple 80358425 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-17 -0.5700000000000001 1.0 Uncertain significance 0 -51113 Simple 80359283 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 40.8 1.1428571428571428 Pathogenic 0 -51116 Simple 11571641 C . Likely benign 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -46.5 1.7272727272727273 Benign 2 -51117 Simple 11571641 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51118 Simple 80358427 T . Pathogenic 3 7 Breast-ovarian cancer, familial 2;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.1428571428571428 Pathogenic 0 -51119 Simple 397507586 - . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -51120 Simple 80358428 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 0.8333333333333334 Pathogenic 0 -51121 Simple 80358429 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -51128 Simple 80358434 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 31.8 1.1666666666666667 Pathogenic 0 -51129 Simple 80358435 T . Pathogenic 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Medulloblastoma;Wilms tumor 1;Breast-ovarian cancer, familial 1;Malignant tumor of prostate;Tracheoesophageal fistula;Pancreatic cancer 2;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 56.4 1.4545454545454546 Pathogenic 0 -51131 Simple 80358437 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-12-28 -0.48 3.0 Uncertain significance 0 -51134 Simple 80359285 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51135 Simple 397507591 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 0.75 Pathogenic 0 -51136 Simple 80359286 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -51137 Simple 397507592 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51138 Simple 80359287 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51139 Simple 80358438 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51140 Simple 397507593 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51141 Simple 80359289 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51145 Simple 397507594 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51149 Simple 138734772 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51150 Simple 80359291 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51152 Simple 80359292 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51153 Simple 80359783 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -51154 Simple 80359293 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51156 Simple 80359294 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51159 Simple 80358447 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-12 -0.5700000000000001 1.0 Uncertain significance 0 -51161 Simple 80359295 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -51162 Simple 397507598 - . Pathogenic 3 2 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51164 Simple 55986646 A . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -25.8 1.4 Benign 0 -51166 Simple 276174812 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -51167 Simple 80358450 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-08-09 -0.51 2.5 Uncertain significance 0 -51168 Simple 80359297 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 0.75 Pathogenic 0 -51169 Simple 80358451 G . Benign 3 7 Breast-ovarian cancer, familial 2;Carcinoma of male breast;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -28.41 1.4285714285714286 Benign 0 -51170 Simple 80358452 G . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.3333333333333333 Pathogenic 0 -51171 Simple 397507600 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51172 Simple 397507601 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51174 Simple 80358455 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51175 Simple 80358456 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 27.0 0.8 Pathogenic 0 -51176 Simple 80359300 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51177 Simple 80359299 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51179 Simple 201523522 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -51182 Simple 397507604 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 22.8 1.75 Pathogenic 0 -51183 Simple 397507605 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -51184 Simple 80359301 - . Pathogenic 3 6 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 34.8 1.3333333333333333 Pathogenic 0 -51187 Simple 80359303 - . Pathogenic 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 47.4 1.125 Pathogenic 0 -51188 Simple 397507606 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51190 Simple 80359304 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 39.6 1.5714285714285714 Pathogenic 0 -51193 Simple 11571642 C . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -59.88 2.076923076923077 Benign 0 -51194 Simple 80358461 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51195 Simple 80358462 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -0.87 1.0 Uncertain significance 0 -51196 Simple 397507607 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -51198 Simple 80359298 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 14.7 1.6666666666666667 Pathogenic/Likely pathogenic 1 -51199 Simple 80358464 G . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.2 1.2857142857142858 Pathogenic 0 -51200 Simple 80358466 A . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -28.38 1.8571428571428572 Benign 0 -51201 Simple 397507608 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51204 Simple 80359310 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51206 Simple 80358469 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -51208 Simple 80358472 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-04 -1.17 1.0 Uncertain significance 0 -51209 Simple 80358472 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51210 Simple 80358473 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.2 0.25 Uncertain significance 0 -51211 Simple 80359311 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -51212 Simple 80359312 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 24.0 1.25 Pathogenic 0 -51215 Simple 276174815 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -51216 Simple 80358476 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.3333333333333333 Pathogenic 0 -51218 Simple 80358478 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -0.81 1.6666666666666667 Uncertain significance 0 -51220 Simple 80359314 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51221 Simple 80359315 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -51222 Simple 397507613 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51226 Simple 11571652 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51229 Simple 397507616 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -51230 Simple 28897711 T . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -76.2 1.7647058823529411 Benign 0 -51231 Simple 80358482 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-12-16 -0.51 2.5 Uncertain significance 0 -51232 Simple 276174817 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51233 Simple 397507617 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 26.4 2.4 Pathogenic 0 -51234 Simple 28897700 G . Benign 3 7 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -27.3 1.7142857142857142 Benign 0 -51235 Simple 80358483 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2016-08-28 -0.54 2.0 Uncertain significance 0 -51236 Simple 80358484 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-27 -1.14 1.5 Uncertain significance 0 -51237 Simple 80359317 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51238 Simple 80359319 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51239 Simple 80359320 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51240 Simple 80358485 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51242 Simple 80359323 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51243 Simple 80358486 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -0.87 0.6666666666666666 Uncertain significance 0 -51244 Simple 80359324 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -51246 Simple 80358488 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-20 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -51248 Simple 80358490 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -0.84 1.3333333333333333 Uncertain significance 0 -51250 Simple 397507618 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51251 Simple 276174818 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -1.17 1.0 Uncertain significance 0 -51252 Simple 397507619 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -51257 Simple 80358494 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.8 Pathogenic 0 -51258 Simple 28897701 C . Benign 3 14 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -53.64 1.7142857142857142 Benign 0 -51259 Simple 80358495 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -51260 Simple 80359326 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -51261 Simple 397507621 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51265 Simple 80358498 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51266 Simple 80359327 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51267 Simple 397507623 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -51268 Simple 55824746 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-01 -0.6 0.5 Uncertain significance 0 -51269 Simple 114446594 G . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-28 -60.3 1.8461538461538463 Benign 0 -51271 Simple 80359784 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -51274 Simple 80358503 A . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 1.1666666666666667 Pathogenic 0 -51276 Simple 397507625 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51277 Simple 80358505 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-27 -0.87 1.0 Uncertain significance 0 -51278 Simple 56404215 C . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.14 1.6666666666666667 Benign/Likely benign 1 -51281 Simple 80358508 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-25 -0.8999999999999999 1.0 Uncertain significance 0 -51283 Simple 80359329 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -51284 Simple 397507626 AA . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-11-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -51286 Simple 397507627 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.6666666666666666 Pathogenic 0 -51287 Simple 80359330 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51288 Simple 397507628 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51289 Simple 80359331 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51290 Simple 397507629 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51292 Simple 80358512 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -51294 Simple 397507631 G . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-10-18 29.4 1.0 Pathogenic 0 -51295 Simple 276174823 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51298 Simple 80358515 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 34.2 1.5 Pathogenic 0 -51299 Simple 80358516 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 1.75 Pathogenic 0 -51300 Simple 80358517 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-11-22 -0.6 1.0 Uncertain significance 0 -51301 Simple 80358518 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -51302 Simple 11571654 C . Benign 3 11 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -49.8 1.6363636363636365 Benign 0 -51303 Simple 11571654 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51304 Simple 80359333 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51306 Simple 80358520 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-10-28 -0.8999999999999999 1.0 Uncertain significance 0 -51307 Simple 80359334 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.2 Pathogenic 0 -51308 Simple 80359336 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -51310 Simple 397507632 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51313 Simple 276174824 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51315 Simple 397507634 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -51317 Simple 276174825 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 40.8 1.1428571428571428 Pathogenic 0 -51318 Simple 276174826 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1 2016-09-08 23.4 1.5 Pathogenic 0 -51320 Simple 80358525 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.17 0.5 Uncertain significance 0 -51321 Simple 80359339 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51322 Simple 80359340 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 27.0 2.0 Pathogenic 0 -51324 Simple 80359341 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51326 Simple 28897715 A . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -27.54 1.5 Benign 0 -51327 Simple 80359342 - . Pathogenic 3 2 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51330 Simple 80359343 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 50.4 1.6666666666666667 Pathogenic 0 -51331 Simple 397507637 - . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -51332 Simple 80359344 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 1.0 Pathogenic 0 -51334 Simple 145988146 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51335 Simple 145988146 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51336 Simple 397507638 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51337 Simple 80359346 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -51338 Simple 397507639 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51339 Simple 80359345 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51343 Simple 2227943 C . Benign 3 13 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -60.54 2.3846153846153846 Benign 0 -51344 Simple 397507642 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51345 Simple 80359347 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -51347 Simple 80359348 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51348 Simple 80359349 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51349 Simple 28897716 A . Benign/Likely benign 2 12 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -43.8 2.0833333333333335 Benign 1 -51350 Simple 80359350 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51351 Simple 80359353 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51352 Simple 80359354 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51353 Simple 55773834 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -1.5 0.8 Uncertain significance 0 -51355 Simple 80358533 T . Pathogenic 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 51.0 1.5555555555555556 Pathogenic 0 -51356 Simple 80359357 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 23.4 1.5 Pathogenic 0 -51357 Simple 80359358 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.0 Pathogenic 0 -51359 Simple 397507644 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -51362 Simple 80359360 - . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-15 -1.41 1.4 Uncertain significance 0 -51363 Simple 397507645 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51365 Simple 80358538 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-09-08 15.0 1.3333333333333333 Pathogenic 0 -51366 Simple 11571655 A . Benign 3 16 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -61.2 1.875 Benign 0 -51368 Simple 397507646 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -51369 Simple 397507647 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51370 Simple 45525041 A . Benign 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -42.0 1.5454545454545454 Benign 0 -51371 Simple 80359362 - . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2016-12-08 -0.54 2.0 Uncertain significance 0 -51373 Simple 80359363 - . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-05-10 -0.6 0.5 Uncertain significance 0 -51378 Simple 80359365 AA . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.25 Pathogenic 0 -51379 Simple 2227944 T . Benign 3 13 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -62.34 2.1538461538461537 Benign 0 -51382 Simple 80358546 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51385 Simple 80358547 G . Pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 22.2 1.5 Pathogenic 0 -51387 Simple 397507651 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -51388 Simple 397507652 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51389 Simple 80359367 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -51391 Simple 80359368 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51392 Simple 397507654 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51395 Simple 80358552 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51397 Simple 80358554 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.2 0.25 Uncertain significance 0 -51400 Simple 80358556 T . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 53.4 1.0 Pathogenic 0 -51403 Simple 80358559 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -51405 Simple 80359370 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51406 Simple 80358561 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 23.4 1.25 Pathogenic 0 -51412 Simple 79728106 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -51413 Simple 80359372 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 32.7 1.1666666666666667 Pathogenic 0 -51418 Simple 80359374 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 27.0 1.2 Pathogenic 0 -51419 Simple 80359375 - . Pathogenic 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.8 Pathogenic 0 -51420 Simple 397507657 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -51421 Simple 80359377 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -51422 Simple 397507658 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51423 Simple 80358563 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-08-29 -0.6 1.0 Uncertain significance 0 -51426 Simple 397507659 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -51430 Simple 80358568 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-16 -1.71 1.3333333333333333 Uncertain significance 0 -51431 Simple 80358569 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -51434 Simple 80359379 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51435 Simple 36060526 C . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -80.58 1.8235294117647058 Benign 0 -51438 Simple 80358573 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51439 Simple 397507661 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51440 Simple 80359381 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51442 Simple 80359382 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51443 Simple 276174833 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51444 Simple 397507662 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51448 Simple 80358577 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.5 Uncertain significance 0 -51449 Simple 80358578 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -51451 Simple 397507664 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51452 Simple 80359384 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51453 Simple 80358579 G . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.6 Pathogenic 0 -51456 Simple 397507666 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51460 Simple 80358586 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -51461 Simple 118093942 C . Benign 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -39.9 1.5555555555555556 Benign 0 -51463 Simple 56242644 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.75 Uncertain significance 0 -51464 Simple 397507667 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51467 Simple 80358591 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-01-18 -0.81 2.0 Uncertain significance 0 -51468 Simple 397507669 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51469 Simple 397507670 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51470 Simple 80358593 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -51471 Simple 80358594 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -51472 Simple 397507671 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51473 Simple 80358595 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51474 Simple 397507672 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51475 Simple 80358596 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.6 0.5 Uncertain significance 0 -51477 Simple 80358597 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -51478 Simple 80359387 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -51479 Simple 80358598 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.5 Uncertain significance 0 -51480 Simple 80358600 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -1.17 0.75 Uncertain significance 0 -51481 Simple 1799952 A . Benign 3 17 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -73.8 1.7058823529411764 Benign 0 -51485 Simple 80359389 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51486 Simple 397507675 - . Pathogenic/Likely pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-07-01 9.0 1.0 Pathogenic/Likely pathogenic 0 -51488 Simple 80358604 T . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.740000000000002 1.2 Benign/Likely benign 1 -51489 Simple 80359390 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 18.0 1.0 Pathogenic 0 -51491 Simple 397507677 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51493 Simple 80359391 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 45.6 1.375 Pathogenic 0 -51495 Simple 80358609 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-05 -0.54 2.0 Uncertain significance 0 -51497 Simple 397507678 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.0 Pathogenic 0 -51498 Simple 397507679 TAAAAAG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51502 Simple 276174835 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -51503 Simple 80358612 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-20 -0.54 2.0 Uncertain significance 0 -51504 Simple 80359395 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 58.8 1.0 Pathogenic 0 -51505 Simple 80359396 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51506 Simple 80359397 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51508 Simple 80359399 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51509 Simple 80359393 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 23.4 1.25 Pathogenic 0 -51510 Simple 397507681 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51511 Simple 397507682 AT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51512 Simple 80359402 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51514 Simple 80358615 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51515 Simple 56400215 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -51516 Simple 397507683 AA . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -51521 Simple 397507684 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51523 Simple 397507686 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51525 Simple 80358620 G . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 30.0 1.2 Pathogenic 0 -51527 Simple 80358622 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51528 Simple 397507687 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51529 Simple 80358623 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51531 Simple 80358625 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-09 -0.6 1.0 Uncertain significance 0 -51532 Simple 397507688 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51534 Simple 80358626 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -1.17 1.0 Uncertain significance 0 -51536 Simple 80359404 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51537 Simple 56337919 T . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.32 2.0 Benign/Likely benign 1 -51538 Simple 80358627 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-24 -0.5700000000000001 1.0 Uncertain significance 0 -51539 Simple 397507691 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51541 Simple 397507692 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51543 Simple 80359408 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 15.0 1.3333333333333333 Pathogenic 0 -51544 Simple 80359410 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51545 Simple 80359406 - . Pathogenic 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Tumor susceptibility linked to germline BAP1 mutations;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 69.0 1.25 Pathogenic 0 -51546 Simple 80359409 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 24.0 1.0 Pathogenic 0 -51549 Simple 397507694 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51550 Simple 80358631 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-09-08 14.4 2.0 Pathogenic/Likely pathogenic 1 -51551 Simple 80358632 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51552 Simple 397507695 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -51555 Simple 397507697 - . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-30 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -51559 Simple 80359786 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51560 Simple 80359415 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51562 Simple 397507698 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -51564 Simple 80359416 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51566 Simple 397507700 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51569 Simple 80358641 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51570 Simple 276174838 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51573 Simple 80358644 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51574 Simple 80358645 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -0.84 1.0 Uncertain significance 0 -51575 Simple 80358646 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-10-17 -0.5700000000000001 1.5 Uncertain significance 0 -51577 Simple 80358648 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 27.0 1.0 Pathogenic 0 -51578 Simple 397515636 TGCTTGCT . Pathogenic 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 49.8 1.2222222222222223 Pathogenic 0 -51579 Simple 80358650 A . Pathogenic 2 5 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-20 29.4 1.2 Pathogenic 0 -51580 Simple 80358652 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51581 Simple 397507701 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51582 Simple 397507702 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51583 Simple 276174840 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -51584 Simple 80359421 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 36.0 0.8333333333333334 Pathogenic 0 -51585 Simple 80358653 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-17 -0.6 0.5 Uncertain significance 0 -51586 Simple 80358654 C . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -25.14 1.3333333333333333 Benign 0 -51587 Simple 80359423 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51588 Simple 80358656 T . Benign 3 11 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -38.94 1.5454545454545454 Benign 0 -51589 Simple 28897724 A . Benign 3 19 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-29 -83.1 1.6842105263157894 Benign 0 -51590 Simple 80359424 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51591 Simple 80359787 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51592 Simple 56248502 C . Benign 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -69.48 1.8 Benign 0 -51593 Simple 80358658 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -51594 Simple 397507703 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51596 Simple 397507705 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51598 Simple 80359427 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51599 Simple 80358659 T . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.1428571428571428 Pathogenic 0 -51600 Simple 397507707 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51601 Simple 80359428 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51602 Simple 80359430 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -51604 Simple 80359431 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -51605 Simple 1064793785 TTTT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 21.6 2.25 Pathogenic 0 -51608 Simple 80359433 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -51610 Simple 397507711 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51611 Simple 80358661 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-10 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -51612 Simple 80359434 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -51614 Simple 80359435 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51615 Simple 397507712 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51616 Simple 70953664 T . Benign 3 15 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -64.38 1.9333333333333333 Benign 0 -51617 Simple 80359436 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.6 2.2 Pathogenic 0 -51618 Simple 397507713 T . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-18 6.0 0.5 Likely pathogenic 0 -51623 Simple 80358664 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.44 1.0 Uncertain significance 0 -51624 Simple 80359437 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51627 Simple 80358665 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51629 Simple 80359441 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51630 Simple 80358666 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2017-05-31 -0.84 1.3333333333333333 Uncertain significance 0 -51632 Simple 80358669 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-31 -0.51 2.0 Uncertain significance 0 -51633 Simple 80358670 A . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.3333333333333333 Pathogenic 0 -51634 Simple 80359443 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51636 Simple 80358672 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-20 -1.14 1.5 Uncertain significance 0 -51638 Simple 397507715 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -51639 Simple 397507716 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51640 Simple 80359444 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 57.6 1.2 Pathogenic 0 -51641 Simple 397507717 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51642 Simple 80359446 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.6666666666666666 Pathogenic 0 -51643 Simple 397507718 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -51645 Simple 80358676 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.0 Benign/Likely benign 1 -51646 Simple 80359447 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -51649 Simple 397507719 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-04-22 18.0 1.3333333333333333 Pathogenic 0 -51650 Simple 80359449 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.2 Pathogenic 0 -51651 Simple 1064797176 - . Pathogenic/Likely pathogenic 2 3 not specified;not provided 2017-08-22 15.0 0.6666666666666666 Pathogenic 1 -51652 Simple 80359451 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -51653 Simple 80359454 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 56.4 0.9 Pathogenic 0 -51654 Simple 80359453 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51655 Simple 80358680 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -51657 Simple 397507722 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -1.17 1.0 Uncertain significance 0 -51658 Simple 80358682 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -51659 Simple 80358683 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51660 Simple 80358684 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-01 -0.5700000000000001 1.5 Uncertain significance 0 -51661 Simple 80358685 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-03-02 -1.05 2.25 Uncertain significance 0 -51662 Simple 397507723 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51667 Simple 80359456 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51669 Simple 80359457 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.0 Pathogenic 0 -51670 Simple 397507727 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51671 Simple 80359458 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 21.0 1.0 Pathogenic 0 -51672 Simple 397507728 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51676 Simple 56386506 G . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -25.44 1.3333333333333333 Benign 0 -51677 Simple 80359788 T . Likely benign 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -45.87 1.8333333333333333 Benign 2 -51678 Simple 80358692 T . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 44.1 1.25 Pathogenic 0 -51681 Simple 397507732 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51683 Simple 45520945 C . Likely benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -27.54 2.5 Benign 2 -51684 Simple 80359459 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -51686 Simple 397507733 TT . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-07-20 11.4 1.0 Pathogenic/Likely pathogenic 1 -51687 Simple 397507734 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -51690 Simple 41293491 C . Likely benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -28.2 2.125 Benign 2 -51692 Simple 276174845 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -0.87 0.6666666666666666 Uncertain significance 0 -51698 Simple 397507739 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -51699 Simple 80358699 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -51701 Simple 80359463 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 28.2 1.6 Pathogenic 0 -51707 Simple 276174847 TG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51708 Simple 81002797 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-03 12.0 1.5 Pathogenic/Likely pathogenic 1 -51709 Simple 81002797 T . Pathogenic/Likely pathogenic 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-02-28 29.1 1.3333333333333333 Pathogenic 1 -51711 Simple 80358702 A . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2017-07-17 11.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -51713 Simple 397507741 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51714 Simple 397507742 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51715 Simple 80359465 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51717 Simple 80358704 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -51718 Simple 397507743 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51719 Simple 80359466 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -51720 Simple 397507744 GG . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.0 Pathogenic 0 -51721 Simple 80359468 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 45.6 1.375 Pathogenic 0 -51722 Simple 80359789 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -51725 Simple 80359469 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51727 Simple 80358707 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -0.54 1.5 Uncertain significance 0 -51728 Simple 80358708 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -1.14 1.25 Uncertain significance 0 -51730 Simple 80358710 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51731 Simple 80358711 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -51732 Simple 80358711 G . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 57.6 1.4 Pathogenic 0 -51734 Simple 80358712 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -51735 Simple 397507748 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51736 Simple 80358713 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-06-26 -0.5700000000000001 1.5 Uncertain significance 0 -51738 Simple 80358715 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-09-18 -0.5700000000000001 1.5 Uncertain significance 0 -51740 Simple 80358717 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51741 Simple 80358718 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-25 -0.6 0.5 Uncertain significance 0 -51744 Simple 80358719 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51745 Simple 80359472 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -51746 Simple 397507751 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 0.75 Pathogenic 0 -51747 Simple 80359474 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -51748 Simple 397507752 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51750 Simple 80358721 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51751 Simple 80359475 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51752 Simple 397507753 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51757 Simple 80358726 A . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.68 1.6666666666666667 Benign/Likely benign 1 -51761 Simple 276174852 AAA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -51762 Simple 80359481 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51764 Simple 397507757 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51765 Simple 80358732 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.47 0.6 Uncertain significance 0 -51766 Simple 80358733 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-16 -0.87 1.3333333333333333 Uncertain significance 0 -51767 Simple 397507758 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-10-18 22.2 1.75 Pathogenic 0 -51770 Simple 80358735 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -51771 Simple 80358737 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-01-05 -0.6 1.0 Uncertain significance 0 -51773 Simple 276174853 - . Pathogenic 3 6 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 31.8 2.1666666666666665 Pathogenic 0 -51775 Simple 80359484 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 58.2 1.0 Pathogenic 0 -51778 Simple 80359487 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 23.4 1.5 Pathogenic 0 -51779 Simple 276174854 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 42.0 0.7142857142857143 Pathogenic 0 -51780 Simple 80359488 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -51781 Simple 80359489 TT . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 41.4 1.1428571428571428 Pathogenic 0 -51782 Simple 80358740 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51786 Simple 397507762 A . Pathogenic 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2017-05-09 17.4 0.6666666666666666 Pathogenic 0 -51787 Simple 397507762 C . Pathogenic 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2017-03-29 17.4 1.0 Pathogenic 0 -51791 Simple 80359490 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.25 Pathogenic 0 -51794 Simple 80358742 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-19 -0.84 1.3333333333333333 Uncertain significance 0 -51799 Simple 11571623 T . Benign 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -53.88 2.272727272727273 Benign 0 -51800 Simple 81002849 A . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-10-02 15.600000000000001 2.3333333333333335 Pathogenic 0 -51801 Simple 81002858 G . Pathogenic/Likely pathogenic 2 7 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-01 37.8 1.0 Pathogenic 1 -51805 Simple 397507768 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.84 1.3333333333333333 Uncertain significance 0 -51806 Simple 80359491 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51807 Simple 397507769 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51810 Simple 28897702 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-02 -0.54 2.0 Uncertain significance 0 -51812 Simple 397507771 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51813 Simple 28897734 T . Benign 3 20 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-29 -93.9 1.65 Benign 0 -51814 Simple 80359483 - . Pathogenic 3 7 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 40.2 1.5714285714285714 Pathogenic 0 -51815 Simple 397507772 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51816 Simple 397507773 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -51817 Simple 397507774 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51818 Simple 41293469 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.2 0.25 Uncertain significance 0 -51819 Simple 80358746 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51820 Simple 80359494 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 33.6 1.5 Pathogenic 0 -51821 Simple 80359495 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51822 Simple 80359496 - . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 56.4 1.6 Pathogenic 0 -51823 Simple 80359497 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51824 Simple 397507775 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.87 1.0 Uncertain significance 0 -51828 Simple 80358748 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -1.2 0.75 Uncertain significance 0 -51831 Simple 397507777 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -51832 Simple 80358750 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-26 -1.47 0.6 Uncertain significance 0 -51833 Simple 80358751 G . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 34.8 1.1666666666666667 Pathogenic 0 -51835 Simple 80358753 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-28 -0.6 0.5 Uncertain significance 0 -51836 Simple 80358754 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -51838 Simple 276174856 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51840 Simple 80358756 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-24 -0.5700000000000001 1.5 Uncertain significance 0 -51842 Simple 80358757 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -51843 Simple 80359506 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51844 Simple 397507779 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51846 Simple 397507780 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51847 Simple 397507781 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51848 Simple 397507782 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -51850 Simple 80359510 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51851 Simple 80359511 ATAT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 21.6 2.25 Pathogenic 0 -51852 Simple 80358760 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-14 -0.54 2.0 Uncertain significance 0 -51853 Simple 80358761 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -51855 Simple 80358762 A . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -21.84 1.6666666666666667 Benign/Likely benign 1 -51856 Simple 80358763 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51857 Simple 80358764 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-07-08 -0.5700000000000001 1.5 Uncertain significance 0 -51859 Simple 80359791 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.1 1.4 Benign/Likely benign 1 -51862 Simple 80358767 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -51863 Simple 397507785 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -51864 Simple 80359513 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51865 Simple 80358768 T . Benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast carcinoma 2015-08-10 -35.94 1.625 Benign 0 -51866 Simple 80359514 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51869 Simple 397507786 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51871 Simple 80358770 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -1.2 0.5 Uncertain significance 0 -51872 Simple 80359792 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -51877 Simple 80359518 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51878 Simple 80359519 - . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 44.1 1.0 Pathogenic 0 -51879 Simple 397507787 - . Pathogenic 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 27.6 2.0 Pathogenic 0 -51880 Simple 80358778 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51881 Simple 397507788 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.3 3.0 Pathogenic 0 -51882 Simple 80359522 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51884 Simple 397507790 AA . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 34.2 1.5 Pathogenic 0 -51885 Simple 80359523 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -51886 Simple 397507791 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51888 Simple 80358780 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-10-16 -0.51 2.5 Uncertain significance 0 -51890 Simple 276174859 AG . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Tumor susceptibility linked to germline BAP1 mutations;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.375 Pathogenic 0 -51892 Simple 80359525 - . Pathogenic 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 53.4 1.0 Pathogenic 0 -51893 Simple 397507792 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51894 Simple 397507793 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -51897 Simple 276174860 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 22.8 1.75 Pathogenic 0 -51900 Simple 80358790 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 33.0 2.0 Pathogenic 0 -51901 Simple 397507795 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -0.5700000000000001 1.5 Uncertain significance 0 -51902 Simple 80359793 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -51905 Simple 397507796 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51907 Simple 80358794 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -0.51 2.0 Uncertain significance 0 -51910 Simple 397507797 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51911 Simple 80359528 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.4 Pathogenic 0 -51912 Simple 4987048 A . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-01-12 -75.48 1.8823529411764706 Benign 0 -51913 Simple 80358796 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -51914 Simple 80359529 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51916 Simple 80359532 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51917 Simple 80358798 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-01-13 -0.54 2.0 Uncertain significance 0 -51918 Simple 28897736 - . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-11-29 -0.54 2.0 Uncertain significance 0 -51919 Simple 276174863 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-05-05 -0.5700000000000001 1.5 Uncertain significance 0 -51921 Simple 397507798 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-09-28 -0.87 1.3333333333333333 Uncertain significance 0 -51922 Simple 397507799 CT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51923 Simple 397507800 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51924 Simple 397507801 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51926 Simple 397507802 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -51927 Simple 80358803 T . Benign 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -32.64 1.6666666666666667 Benign 0 -51929 Simple 397507803 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -51931 Simple 80359534 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51932 Simple 80359535 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 0.75 Pathogenic 0 -51933 Simple 80358806 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.3333333333333333 Pathogenic 0 -51935 Simple 80359536 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51936 Simple 56253082 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -1.5 0.6 Uncertain significance 0 -51937 Simple 397507805 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51938 Simple 397507806 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51939 Simple 80358807 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51940 Simple 80359537 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 38.4 2.0 Pathogenic 0 -51943 Simple 80358809 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51944 Simple 80359539 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -51945 Simple 80359540 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Malignant tumor of prostate;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51949 Simple 80359542 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51952 Simple 80358814 T . Pathogenic 3 14 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Medulloblastoma;Wilms tumor 1;Malignant tumor of prostate;Tracheoesophageal fistula;Pancreatic cancer 2;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome;BRCA2-Related Disorders 2016-09-08 80.4 1.0714285714285714 Pathogenic 0 -51953 Simple 80359545 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51954 Simple 80358815 A . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 55.2 1.1 Pathogenic 0 -51955 Simple 80358815 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.6666666666666666 Pathogenic 0 -51958 Simple 80358818 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-22 -0.6 1.0 Uncertain significance 0 -51959 Simple 80358818 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-24 -0.8999999999999999 1.0 Uncertain significance 0 -51962 Simple 397507811 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51963 Simple 80359547 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51964 Simple 80358825 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -51968 Simple 397507812 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51969 Simple 80359549 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51971 Simple 397507814 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51972 Simple 80359551 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -51973 Simple 80358828 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 0.8333333333333334 Pathogenic 0 -51976 Simple 276174865 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -51977 Simple 80359552 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -51979 Simple 80358830 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -51981 Simple 397507818 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.5 Pathogenic 0 -51983 Simple 397507819 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51985 Simple 397507820 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51986 Simple 80359553 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -51990 Simple 80358838 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -51991 Simple 80358839 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -0.84 1.6666666666666667 Uncertain significance 0 -51993 Simple 397507823 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -51994 Simple 397507824 GT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51996 Simple 80358842 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -51998 Simple 80358843 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -51999 Simple 80359555 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.0 Pathogenic 0 -52000 Simple 80358844 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -52002 Simple 80359556 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52003 Simple 80359557 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 23.4 1.5 Pathogenic 0 -52005 Simple 397507826 AA . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 33.0 1.8333333333333333 Pathogenic 0 -52006 Simple 397507827 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52007 Simple 80359558 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 39.6 1.5714285714285714 Pathogenic 0 -52008 Simple 397507828 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -52010 Simple 397507829 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -52012 Simple 80358849 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-02-29 -0.54 2.0 Uncertain significance 0 -52013 Simple 80359559 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52014 Simple 397507830 CTTACTTA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -52015 Simple 80359560 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -52016 Simple 80358850 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-24 -0.51 2.5 Uncertain significance 0 -52017 Simple 80358851 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.0 Pathogenic 0 -52018 Simple 80359561 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided 2016-09-08 24.0 1.25 Pathogenic 0 -52019 Simple 80358854 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-01-08 -0.54 2.0 Uncertain significance 0 -52020 Simple 80359562 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -52022 Simple 397507831 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52023 Simple 80358856 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52025 Simple 80359563 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -52027 Simple 80359564 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -52029 Simple 80359565 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52030 Simple 397507833 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52032 Simple 276174866 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -52035 Simple 80359567 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 1.0 Pathogenic 0 -52036 Simple 276174867 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52039 Simple 80358864 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52040 Simple 80358865 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -0.6 0.5 Uncertain significance 0 -52041 Simple 80359570 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52042 Simple 397507836 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52043 Simple 80359571 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -52045 Simple 80359572 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52046 Simple 397507838 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -52047 Simple 80359573 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52048 Simple 80358867 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.5 0.4 Uncertain significance 0 -52050 Simple 397507839 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52052 Simple 80358870 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.4 Pathogenic 0 -52056 Simple 397507841 G . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1 2017-07-17 8.4 1.0 Pathogenic/Likely pathogenic 0 -52058 Simple 80358871 A . Pathogenic 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-02-27 33.6 1.6666666666666667 Pathogenic 0 -52060 Simple 81002820 A . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2015-10-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -52063 Simple 397507842 G . Pathogenic 2 2 Breast-ovarian cancer, familial 2;not provided 2016-02-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -52066 Simple 276174871 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52069 Simple 80359574 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -52071 Simple 80359576 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.2 1.5 Pathogenic 0 -52072 Simple 397507844 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52073 Simple 397507845 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.0 Pathogenic 0 -52075 Simple 80359578 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -52077 Simple 80358875 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52080 Simple 397507849 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -52081 Simple 80359582 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52082 Simple 80359583 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52083 Simple 80358876 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-03-19 -0.51 2.5 Uncertain significance 0 -52085 Simple 80359586 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52086 Simple 397507851 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -52088 Simple 80358877 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -52089 Simple 80359794 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -52090 Simple 397507852 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52091 Simple 397507853 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52094 Simple 80358878 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-25 -0.84 1.6666666666666667 Uncertain significance 0 -52097 Simple 80359589 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -52098 Simple 80359591 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52100 Simple 80359592 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52102 Simple 80359593 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -52104 Simple 397507858 TATA . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 27.6 2.0 Pathogenic 0 -52105 Simple 80359594 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 16.8 2.0 Pathogenic 0 -52106 Simple 80359588 - . Uncertain significance 2 4 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-19 -1.08 1.5 Uncertain significance 0 -52107 Simple 80359595 AA . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 36.0 1.0 Pathogenic 0 -52109 Simple 276174873 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-02-19 -0.51 2.5 Uncertain significance 0 -52111 Simple 80358883 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52112 Simple 397507859 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52113 Simple 397507860 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -52114 Simple 397507861 GACT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52115 Simple 80359599 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52116 Simple 397507862 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52118 Simple 276174874 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52119 Simple 80359600 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52121 Simple 80358884 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -52122 Simple 397507865 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 38.4 2.0 Pathogenic 0 -52125 Simple 397507866 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -52127 Simple 80359603 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Neoplasm of the breast 2016-09-08 23.4 1.5 Pathogenic 0 -52128 Simple 397507867 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52131 Simple 80359607 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 42.0 0.8571428571428571 Pathogenic 0 -52132 Simple 397507869 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -52133 Simple 80359608 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52134 Simple 80358889 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-01 -1.47 1.0 Uncertain significance 0 -52135 Simple 80359610 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52137 Simple 80359611 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52138 Simple 80359609 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -52139 Simple 80359795 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -52140 Simple 397507871 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52143 Simple 80359612 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52145 Simple 80359614 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.2 1.5 Pathogenic 0 -52146 Simple 80359615 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52149 Simple 80358893 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -52150 Simple 80359617 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52151 Simple 397507875 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-24 -1.2 0.5 Uncertain significance 0 -52152 Simple 276174875 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52153 Simple 80359619 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -52154 Simple 80359620 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52155 Simple 80359621 GG . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -52156 Simple 80358894 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-02 -1.1400000000000001 1.5 Uncertain significance 0 -52158 Simple 397507877 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52159 Simple 41293501 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -1.2 0.0 Uncertain significance 0 -52160 Simple 81002796 A . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-01-18 16.200000000000003 2.0 Pathogenic 0 -52161 Simple 81002796 T . Pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-19 21.6 1.75 Pathogenic 0 -52163 Simple 81002885 C . Pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-03-02 23.4 1.25 Pathogenic 0 -52167 Simple 28897742 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-04-01 -0.51 2.5 Uncertain significance 0 -52168 Simple 276174876 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52171 Simple 397507879 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52173 Simple 397507880 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52175 Simple 80359622 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52176 Simple 180670511 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52177 Simple 80359623 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -52178 Simple 80359624 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.1666666666666667 Pathogenic 0 -52180 Simple 80358901 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52181 Simple 80358902 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified 2016-09-30 -0.81 2.0 Uncertain significance 0 -52184 Simple 80358905 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-04-18 -1.05 2.0 Uncertain significance 0 -52186 Simple 397507882 A . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-16 -8.7 1.0 Benign/Likely benign 1 -52192 Simple 80359625 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52196 Simple 397507885 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52197 Simple 397507886 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52202 Simple 80358907 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-06 -0.5700000000000001 1.5 Uncertain significance 0 -52203 Simple 80359626 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -52212 Simple 80358908 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-07 -0.8999999999999999 1.0 Uncertain significance 0 -52213 Simple 80358909 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -0.87 1.0 Uncertain significance 0 -52214 Simple 80358910 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-15 -0.75 2.6666666666666665 Uncertain significance 0 -52216 Simple 80358912 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -1.14 1.25 Uncertain significance 0 -52219 Simple 276174886 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.87 1.0 Uncertain significance 0 -52222 Simple 81002863 G . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2017-05-24 14.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -52226 Simple 80358922 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-19 -1.1400000000000001 1.5 Uncertain significance 0 -52228 Simple 397507888 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52229 Simple 80358924 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-17 -0.87 1.0 Uncertain significance 0 -52232 Simple 80359631 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -52233 Simple 80358926 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-10-15 -0.8999999999999999 1.0 Uncertain significance 0 -52235 Simple 80359632 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -52237 Simple 397507891 C . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-09-15 17.4 1.0 Pathogenic 0 -52239 Simple 81002816 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-09 -0.87 1.3333333333333333 Uncertain significance 0 -52241 Simple 28897743 C . Pathogenic 2 7 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-18 39.0 1.4285714285714286 Pathogenic 0 -52242 Simple 28897743 T . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-11 14.100000000000001 1.25 Pathogenic/Likely pathogenic 0 -52245 Simple 81002823 G . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -52246 Simple 81002823 T . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-03 33.0 1.8571428571428572 Pathogenic 0 -52248 Simple 80358927 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-23 -1.17 1.25 Uncertain significance 0 -52249 Simple 45574331 C . Benign 3 19 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-01-12 -94.98 1.7894736842105263 Benign 0 -52250 Simple 80358928 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.3333333333333333 Pathogenic 0 -52251 Simple 80359634 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.1666666666666667 Pathogenic 0 -52252 Simple 397507892 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52253 Simple 80359635 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52254 Simple 80358929 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.08 1.75 Uncertain significance 0 -52255 Simple 397507893 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52256 Simple 80358930 A . Uncertain significance 2 6 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Medulloblastoma;Wilms tumor 1;Malignant tumor of prostate;Tracheoesophageal fistula;Pancreatic cancer 2;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -1.77 0.5 Uncertain significance 0 -52257 Simple 80358930 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -1.17 0.75 Uncertain significance 0 -52258 Simple 80358934 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -1.3800000000000001 1.6 Uncertain significance 0 -52259 Simple 276174888 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-29 -9.6 1.0 Benign/Likely benign 1 -52261 Simple 80358936 T . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -52267 Simple 397507896 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52270 Simple 397507897 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52271 Simple 80358943 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52273 Simple 276174890 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -52274 Simple 80359796 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -52275 Simple 80359639 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52277 Simple 80358945 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -52278 Simple 397507899 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 0.75 Pathogenic 0 -52279 Simple 80358946 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -52280 Simple 80359797 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -52281 Simple 397507900 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -52286 Simple 397507903 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -52287 Simple 80359641 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 27.0 2.0 Pathogenic 0 -52289 Simple 80359642 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided 2016-09-08 24.0 1.25 Pathogenic 0 -52291 Simple 276174891 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -52293 Simple 80359643 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52295 Simple 397507906 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52296 Simple 80358951 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -52298 Simple 397507907 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.1666666666666667 Pathogenic 0 -52300 Simple 80359644 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -52301 Simple 397507908 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52302 Simple 80359645 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.1666666666666667 Pathogenic 0 -52305 Simple 397507910 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52306 Simple 80358955 T . Benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -13.98 2.25 Benign/Likely benign 1 -52310 Simple 397507911 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52311 Simple 80358959 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52312 Simple 80359646 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-04-22 30.0 1.0 Pathogenic 0 -52314 Simple 397507913 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -52315 Simple 397507914 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -52317 Simple 169547 T . Benign 3 6 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2015-01-12 -34.68 1.1666666666666667 Benign 0 -52319 Simple 397507915 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52320 Simple 397507916 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52322 Simple 80358963 C . Benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -13.74 2.0 Benign/Likely benign 1 -52324 Simple 276174892 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -52333 Simple 80359652 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52334 Simple 80358966 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-09-21 -0.5700000000000001 1.5 Uncertain significance 0 -52338 Simple 397507918 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -52339 Simple 80358971 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52340 Simple 80359653 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52343 Simple 80359654 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52350 Simple 397507919 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -52351 Simple 80359658 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52352 Simple 397507920 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52353 Simple 80358981 T . Pathogenic 3 14 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 80.4 1.2857142857142858 Pathogenic 0 -52354 Simple 80359661 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -52357 Simple 80359663 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52359 Simple 80359665 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52360 Simple 80358988 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-22 -0.6 1.0 Uncertain significance 0 -52361 Simple 397507921 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52362 Simple 397507922 A . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-15 36.0 0.8333333333333334 Pathogenic 0 -52364 Simple 81002843 G . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-04-21 17.4 0.6666666666666666 Pathogenic 0 -52365 Simple 397507923 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -52372 Simple 61754138 A . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -58.38 2.076923076923077 Benign 0 -52373 Simple 397507926 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-03-31 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -52374 Simple 80358990 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.84 1.0 Uncertain significance 0 -52377 Simple 80358993 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52378 Simple 80359669 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52379 Simple 397507928 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52381 Simple 80359673 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 18.0 1.0 Pathogenic 0 -52382 Simple 80359670 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -52383 Simple 397507930 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52385 Simple 397507932 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52386 Simple 80358994 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52387 Simple 397507933 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52388 Simple 80359674 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 21.6 2.25 Pathogenic 0 -52390 Simple 397507934 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52391 Simple 397507935 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52394 Simple 80358997 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52395 Simple 80358998 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 1.75 Pathogenic 0 -52396 Simple 80358999 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52398 Simple 80359001 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-02-09 -0.54 2.0 Uncertain significance 0 -52399 Simple 397507936 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -52401 Simple 80359003 A . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 52.2 1.2222222222222223 Pathogenic 0 -52403 Simple 75096777 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -52404 Simple 80359678 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52405 Simple 80359679 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -52410 Simple 81002809 A . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-10 14.4 1.25 Pathogenic/Likely pathogenic 0 -52418 Simple 81002836 G . Pathogenic/Likely pathogenic 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Ovarian neoplasm 2017-04-01 33.0 1.6666666666666667 Pathogenic 1 -52419 Simple 9590939 G . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -25.08 1.6 Benign 0 -52421 Simple 80359683 AG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52424 Simple 80359010 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-30 -1.2 1.0 Uncertain significance 0 -52425 Simple 397507940 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 18.0 1.0 Pathogenic 0 -52426 Simple 80359685 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 15.0 1.0 Pathogenic 0 -52427 Simple 397507941 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 21.6 2.25 Pathogenic 0 -52428 Simple 276174896 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52429 Simple 397507942 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52430 Simple 80359014 T . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 47.34 1.0 Pathogenic 0 -52431 Simple 397507943 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52432 Simple 80359015 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52433 Simple 80359016 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 15.6 2.6666666666666665 Pathogenic 0 -52437 Simple 81002846 A . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 20.4 0.8 Pathogenic 1 -52438 Simple 81002846 T . Pathogenic 2 2 Breast-ovarian cancer, familial 2 2017-01-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -52439 Simple 80359020 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -0.5700000000000001 1.0 Uncertain significance 0 -52440 Simple 80359688 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 34.2 1.3333333333333333 Pathogenic 0 -52444 Simple 276174898 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -52445 Simple 80359799 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -52446 Simple 80359689 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52452 Simple 81002873 A . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-12-28 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -52455 Simple 80359027 C . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-08-10 11.940000000000001 1.5 Pathogenic/Likely pathogenic 1 -52459 Simple 397507949 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-22 18.0 1.3333333333333333 Pathogenic 0 -52460 Simple 397507950 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52462 Simple 80359031 T . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 34.74 2.0 Pathogenic 0 -52463 Simple 80359800 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.18 1.6 Benign/Likely benign 1 -52464 Simple 80359800 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -52465 Simple 80359032 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52466 Simple 80359033 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -52467 Simple 80359034 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-28 -0.6 0.5 Uncertain significance 0 -52468 Simple 276174900 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -52469 Simple 397507951 AGAAGATAGAAGAT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52470 Simple 80359035 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.5 Pathogenic 0 -52473 Simple 397507952 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -52474 Simple 397507953 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52475 Simple 397507954 G . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-08 14.4 0.6666666666666666 Pathogenic/Likely pathogenic 0 -52476 Simple 397507955 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52477 Simple 80359691 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52478 Simple 80359039 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-22 -0.6 1.0 Uncertain significance 0 -52479 Simple 397507956 AGAG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52481 Simple 80359041 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -52483 Simple 276174901 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52485 Simple 80359043 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -52486 Simple 397507958 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52487 Simple 397507959 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52490 Simple 80359692 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52491 Simple 80359044 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-03-02 -0.48 3.0 Uncertain significance 0 -52492 Simple 397507961 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52493 Simple 80359046 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.6 2.2 Pathogenic 0 -52494 Simple 80359693 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52495 Simple 80359694 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52496 Simple 397507962 TTTT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52498 Simple 397507963 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52499 Simple 80359048 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52501 Simple 80359050 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52502 Simple 80359695 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52504 Simple 80359053 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -1.08 1.75 Uncertain significance 0 -52505 Simple 276174902 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52506 Simple 80359801 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -52508 Simple 80359696 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -52509 Simple 80359056 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -52510 Simple 80359057 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -1.17 0.75 Uncertain significance 0 -52511 Simple 80359058 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52512 Simple 80359059 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -52515 Simple 41293511 C . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 56.34 1.5 Pathogenic 0 -52518 Simple 397507964 GTGGGTGG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52523 Simple 80359068 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 22.8 1.75 Pathogenic 0 -52524 Simple 80359068 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52526 Simple 397507967 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Neoplasm of the breast 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52527 Simple 397507968 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52528 Simple 397507969 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52532 Simple 80359699 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52533 Simple 276174903 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52534 Simple 80359700 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -52535 Simple 80359071 A . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 51.54 1.2 Pathogenic 0 -52536 Simple 80359701 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 34.8 1.5 Pathogenic 0 -52537 Simple 80359703 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-03-09 -0.81 2.0 Uncertain significance 0 -52538 Simple 80359072 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-06 -0.5700000000000001 1.0 Uncertain significance 0 -52540 Simple 397507972 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52541 Simple 397507973 ACAC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52543 Simple 397507975 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52546 Simple 80359073 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -1.2 0.25 Uncertain significance 0 -52548 Simple 397507977 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52556 Simple 80359707 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.3333333333333333 Pathogenic 0 -52557 Simple 80359708 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52559 Simple 80359076 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-31 -1.17 0.5 Uncertain significance 0 -52564 Simple 80359080 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52566 Simple 397507981 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -52567 Simple 80359081 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -0.84 1.3333333333333333 Uncertain significance 0 -52570 Simple 80359084 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -1.14 1.0 Uncertain significance 0 -52573 Simple 276174907 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -52574 Simple 80359709 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52582 Simple 55763607 T . Uncertain significance 2 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -2.04 0.8571428571428571 Uncertain significance 0 -52584 Simple 80359089 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -0.87 0.6666666666666666 Uncertain significance 0 -52585 Simple 80359090 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-02-13 -0.6 1.0 Uncertain significance 0 -52586 Simple 80359091 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-04 -1.2 1.0 Uncertain significance 0 -52587 Simple 80359710 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52589 Simple 80359092 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-11-09 -0.6 0.5 Uncertain significance 0 -52591 Simple 397507987 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52592 Simple 80359094 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.47 0.8 Uncertain significance 0 -52594 Simple 9590940 C . Benign 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -67.98 2.466666666666667 Benign 0 -52595 Simple 80359096 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-03-25 -0.48 3.0 Uncertain significance 0 -52596 Simple 397507988 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52597 Simple 80359711 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -52599 Simple 80359098 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -52602 Simple 81002798 A . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 40.74 1.1428571428571428 Pathogenic 0 -52605 Simple 80359101 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -52606 Simple 11571746 C . Benign/Likely benign 2 12 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -50.7 2.3333333333333335 Benign 1 -52607 Simple 80359102 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -52608 Simple 80359713 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -52609 Simple 80359103 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.2 0.25 Uncertain significance 0 -52611 Simple 80359105 A . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -30.84 1.2857142857142858 Benign 0 -52615 Simple 80359715 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -52616 Simple 80359108 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.41 1.2 Uncertain significance 0 -52617 Simple 80359109 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -0.84 1.6666666666666667 Uncertain significance 0 -52618 Simple 397507991 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52620 Simple 80359717 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52621 Simple 397507992 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52623 Simple 80359112 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -1.5 0.2 Uncertain significance 0 -52624 Simple 80359112 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 15.6 2.6666666666666665 Pathogenic 0 -52626 Simple 80359115 T . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 41.4 1.1428571428571428 Pathogenic 0 -52627 Simple 397507993 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 . 1.0 . 0 -52629 Simple 80359116 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-01-20 -0.5700000000000001 1.5 Uncertain significance 0 -52630 Simple 80359118 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52631 Simple 80359721 TT . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.6 0.8333333333333334 Pathogenic 0 -52632 Simple 80359119 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-02 -0.6 1.0 Uncertain significance 0 -52635 Simple 397507996 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52636 Simple 80359121 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52646 Simple 80359723 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52651 Simple 80359124 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-12-14 -0.54 2.0 Uncertain significance 0 -52656 Simple 80359724 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.5 Pathogenic 0 -52657 Simple 80359725 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52659 Simple 80359722 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -52660 Simple 80359726 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52661 Simple 397508003 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52663 Simple 397508004 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52667 Simple 397508006 A . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-19 16.2 2.0 Pathogenic 0 -52668 Simple 397508007 C . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-09 14.4 0.75 Pathogenic/Likely pathogenic 0 -52671 Simple 80359803 A . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-13 11.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -52673 Simple 80359131 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -1.2 0.25 Uncertain significance 0 -52674 Simple 80359728 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52675 Simple 80359133 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.0 Pathogenic 0 -52676 Simple 80359134 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -52677 Simple 80359135 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -0.6 1.0 Uncertain significance 0 -52678 Simple 80359136 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.08 1.75 Uncertain significance 0 -52679 Simple 397508008 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-16 -0.6 1.0 Uncertain significance 0 -52680 Simple 80359729 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52682 Simple 80359138 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 -0.51 2.0 Uncertain significance 0 -52683 Simple 397508009 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided 2016-09-08 20.4 1.5 Pathogenic 0 -52684 Simple 397508010 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52686 Simple 397508012 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52687 Simple 80359139 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -0.8099999999999999 2.0 Uncertain significance 0 -52688 Simple 397508013 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -52690 Simple 397508015 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52691 Simple 276174912 CT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52694 Simple 80359140 T . Pathogenic 3 10 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 57.6 1.2 Pathogenic 0 -52697 Simple 59004709 A . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.65 1.8571428571428572 Benign/Likely benign 1 -52698 Simple 80359731 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52700 Simple 80359142 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -0.81 1.6666666666666667 Uncertain significance 0 -52701 Simple 397508019 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -52703 Simple 397508020 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-10-18 18.0 1.0 Pathogenic 0 -52704 Simple 80359144 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-22 18.0 1.3333333333333333 Pathogenic 0 -52706 Simple 397508021 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52709 Simple 81002882 A . Pathogenic 2 2 Breast-ovarian cancer, familial 2;not provided 2016-06-06 11.4 1.5 Pathogenic/Likely pathogenic 1 -52711 Simple 81002901 C . Benign 2 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2016-03-27 . 1.0 . 0 -52714 Simple 80359734 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.1428571428571428 Pathogenic 0 -52716 Simple 80359149 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -52717 Simple 397508025 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52718 Simple 397508026 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52719 Simple 80359735 C . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52720 Simple 80359737 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52721 Simple 397508027 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -52722 Simple 397508028 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52723 Simple 80359804 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -52724 Simple 80359151 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52727 Simple 80359739 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52728 Simple 80359154 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -52730 Simple 80359738 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52731 Simple 80359742 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 0.75 Pathogenic 0 -52733 Simple 80359156 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52734 Simple 80359743 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52735 Simple 80359744 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52738 Simple 397508032 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52739 Simple 80359746 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52740 Simple 397508033 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-22 17.4 1.6666666666666667 Pathogenic 0 -52741 Simple 397508034 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52742 Simple 80359159 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -0.84 1.3333333333333333 Uncertain significance 0 -52744 Simple 80359162 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-01 -1.47 1.0 Uncertain significance 0 -52747 Simple 80359747 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52748 Simple 80359748 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52749 Simple 80359163 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52751 Simple 80359165 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.1099999999999999 1.25 Uncertain significance 0 -52752 Simple 397508037 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52754 Simple 81002802 A . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-12-14 17.4 1.3333333333333333 Pathogenic 0 -52759 Simple 81002862 G . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-12-13 16.8 1.6666666666666667 Pathogenic 0 -52762 Simple 80359170 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided 2016-09-08 20.1 1.75 Pathogenic 0 -52763 Simple 45580035 T . Pathogenic 3 12 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 69.54 1.0 Pathogenic 0 -52764 Simple 80359750 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52768 Simple 80359751 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52769 Simple 80359175 A . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 0.8333333333333334 Pathogenic 0 -52771 Simple 397508039 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52773 Simple 80359177 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-01 -0.54 2.0 Uncertain significance 0 -52776 Simple 80359183 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52779 Simple 80359186 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -1.17 0.5 Uncertain significance 0 -52781 Simple 397508040 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52782 Simple 80359805 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -52783 Simple 80359190 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52784 Simple 80359191 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.38 1.6 Uncertain significance 0 -52785 Simple 397508041 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 36.0 1.0 Pathogenic 0 -52788 Simple 80359192 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52790 Simple 11571818 C . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -65.28 2.3076923076923075 Benign 0 -52793 Simple 81002889 C . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-11-21 26.1 1.4 Pathogenic 1 -52797 Simple 80359753 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -52799 Simple 80359195 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-15 -0.5700000000000001 1.0 Uncertain significance 0 -52801 Simple 397508043 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -52802 Simple 80359754 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52803 Simple 80359197 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -52804 Simple 80359806 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -52806 Simple 80359199 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52808 Simple 397508045 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52812 Simple 80359755 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -52813 Simple 80359756 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52814 Simple 80359205 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52816 Simple 397508047 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 1.0 Pathogenic 0 -52817 Simple 276174923 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-01 -1.1400000000000001 1.25 Uncertain significance 0 -52819 Simple 80359207 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52821 Simple 80359757 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52822 Simple 80359208 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2014-11-17 -0.48 3.0 Uncertain significance 0 -52824 Simple 276174924 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -52825 Simple 80359210 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -52826 Simple 80359212 T . Pathogenic 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 95.4 1.4705882352941178 Pathogenic 0 -52828 Simple 397508049 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52829 Simple 80359214 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -52831 Simple 80359760 - . Pathogenic 3 9 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 49.2 1.8888888888888888 Pathogenic 0 -52832 Simple 80359761 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52833 Simple 80359807 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -52834 Simple 80359216 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -1.41 1.2 Uncertain significance 0 -52836 Simple 397508050 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52839 Simple 80359219 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.87 1.0 Uncertain significance 0 -52840 Simple 80359764 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52842 Simple 397508052 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -52843 Simple 397508053 GAATGATC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52844 Simple 276174925 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52845 Simple 80359766 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52846 Simple 397508054 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52847 Simple 80359221 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-20 -0.6 0.5 Uncertain significance 0 -52848 Simple 80359222 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52849 Simple 397508055 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52858 Simple 81002868 C . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2017-04-04 11.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -52860 Simple 80359767 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52861 Simple 80359224 G . Benign 3 6 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -27.84 1.6666666666666667 Benign 0 -52862 Simple 80359769 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 21.6 0.75 Pathogenic 0 -52863 Simple 397508060 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52864 Simple 397508061 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52865 Simple 200598289 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-01-10 -0.81 2.0 Uncertain significance 0 -52866 Simple 397508062 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52867 Simple 80359225 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-13 -0.87 1.3333333333333333 Uncertain significance 0 -52870 Simple 80359770 AA . Pathogenic 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 58.8 1.0 Pathogenic 0 -52871 Simple 397508063 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52873 Simple 80359231 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-06 -0.81 2.0 Uncertain significance 0 -52875 Simple 276174926 CT . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-30 -1.41 0.8 Uncertain significance 0 -52876 Simple 80359234 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -52878 Simple 80359809 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -52879 Simple 11571824 - . Benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2015-01-12 -11.280000000000001 2.0 Benign/Likely benign 1 -52883 Simple 11571830 A . Benign 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -43.08 2.0 Benign 0 -52884 Simple 56177715 T . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -25.89 2.3333333333333335 Benign 0 -52888 Simple 80359772 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 27.6 2.0 Pathogenic 0 -52889 Simple 80359774 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 16.8 2.0 Pathogenic 0 -52890 Simple 80359237 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -52891 Simple 80359238 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -1.2 0.75 Uncertain significance 0 -52894 Simple 80359240 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-13 -1.08 2.0 Uncertain significance 0 -52895 Simple 80359810 C . Likely benign 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -36.57 1.6363636363636365 Benign 2 -52896 Simple 80359811 T . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -22.8 1.4 Benign/Likely benign 1 -52898 Simple 28897706 A . Benign 3 14 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -50.04 2.0 Benign 0 -52900 Simple 397508065 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -52903 Simple 80359244 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-11-25 -0.6 1.0 Uncertain significance 0 -52907 Simple 11571832 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -52908 Simple 11571832 G . Benign 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -35.7 1.875 Benign 0 -52909 Simple 80359776 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52911 Simple 80359247 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2016-09-08 15.0 1.3333333333333333 Pathogenic 0 -52914 Simple 276174930 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-14 -0.6 0.5 Uncertain significance 0 -52916 Simple 4987049 G . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 41.4 1.0 Pathogenic 0 -52917 Simple 4987049 T . Benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -36.6 1.625 Benign 0 -52919 Simple 80359251 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 15.0 1.0 Pathogenic 0 -52922 Simple 80359777 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -52924 Simple 80359778 - . Pathogenic 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 45.6 1.5 Pathogenic 0 -52925 Simple 397508066 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -52929 Simple 199472759 C . Pathogenic 2 2 Long QT syndrome 1;not provided;Congenital long QT syndrome 2017-11-03 12.0 0.0 Pathogenic/Likely pathogenic 1 -52930 Simple 397508068 - . Pathogenic 2 2 Long QT syndrome;not provided 2017-04-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -52946 Simple 397508072 T . Pathogenic 2 2 Long QT syndrome;not provided 2017-03-09 11.4 1.0 Pathogenic/Likely pathogenic 1 -52950 Simple 397508075 T . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided 2017-09-13 12.0 0.0 Pathogenic/Likely pathogenic 0 -52953 Simple 12720458 G . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-12 9.0 0.5 Pathogenic/Likely pathogenic 0 -52955 Simple 199473411 T . Pathogenic 2 3 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-06-13 16.8 1.0 Pathogenic 0 -52961 Simple 199472767 A . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2017-08-08 -0.6 0.5 Uncertain significance 0 -52972 Simple 397508082 CC . Pathogenic 2 2 not provided;Cardiovascular phenotype 2017-09-29 11.4 1.0 Pathogenic/Likely pathogenic 1 -52978 Simple 397508088 CC . Pathogenic 2 2 Long QT syndrome;not provided 2017-02-12 9.6 3.0 Pathogenic/Likely pathogenic 1 -52980 Simple 140452381 T . Uncertain significance 2 4 Long QT syndrome;not specified;not provided;Congenital long QT syndrome 2017-03-07 -1.14 1.25 Uncertain significance 0 -52989 Simple 397508096 G . Pathogenic 2 2 Long QT syndrome;not provided 2017-01-04 12.0 1.0 Pathogenic/Likely pathogenic 1 -52993 Simple 199473479 G . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-03-14 8.7 1.0 Pathogenic/Likely pathogenic 0 -52994 Simple 199472790 G . Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-10-30 6.0 0.0 Likely pathogenic 0 -52996 Simple 397508097 T . Pathogenic 2 3 Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome 2;Long QT syndrome;not provided 2017-08-17 18.0 0.3333333333333333 Pathogenic 0 -53000 Simple 199473480 T . Pathogenic/Likely pathogenic 2 3 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-12 13.8 1.0 Pathogenic/Likely pathogenic 0 -53003 Simple 199472800 A . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-01-09 12.0 1.0 Pathogenic/Likely pathogenic 1 -53006 Simple 199472804 T . Likely pathogenic 2 2 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2016-10-17 6.0 1.0 Likely pathogenic 0 -53007 Simple 199472805 C . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2016-12-13 12.0 1.0 Pathogenic/Likely pathogenic 1 -53009 Simple 199472807 A . Pathogenic/Likely pathogenic 2 2 not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-07-14 8.7 1.0 Pathogenic/Likely pathogenic 0 -53018 Simple 199472815 A . Pathogenic/Likely pathogenic 2 3 Long QT syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-09-06 18.0 0.3333333333333333 Pathogenic 1 -53027 Simple 397508105 CC . Pathogenic 2 2 Long QT syndrome 1;Long QT syndrome;not provided 2017-07-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -53031 Simple 199472676 A . Uncertain significance 2 3 Long QT syndrome 1;Short QT syndrome 2;not specified;Congenital long QT syndrome 2016-12-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -53047 Simple 397508111 A . Pathogenic 2 3 Long QT syndrome;not specified;not provided 2017-06-12 18.0 0.6666666666666666 Pathogenic 0 -53050 Simple 397508112 - . Pathogenic/Likely pathogenic 2 2 not provided;Jervell and Lange-Nielsen syndrome 2016-12-19 8.4 2.0 Pathogenic/Likely pathogenic 0 -53052 Simple 179489 A . Pathogenic 2 3 Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-19 15.6 1.6666666666666667 Pathogenic 0 -53058 Simple 199472696 T . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-06-27 12.0 0.0 Pathogenic/Likely pathogenic 1 -53069 Simple 397508117 GG . Pathogenic 2 2 Jervell and Lange-Nielsen syndrome 1;Long QT syndrome;not provided 2017-05-11 11.4 1.0 Pathogenic/Likely pathogenic 1 -53072 Simple 397508118 - . Pathogenic 2 2 Jervell and Lange-Nielsen syndrome 1;Long QT syndrome;not provided 2016-10-19 12.0 1.0 Pathogenic/Likely pathogenic 1 -53076 Simple 397508120 - . Pathogenic/Likely pathogenic 2 3 Long QT syndrome;not provided;Jervell and Lange-Nielsen syndrome 2017-01-06 13.2 2.3333333333333335 Pathogenic/Likely pathogenic 0 -53086 Simple 199473457 T . Pathogenic/Likely pathogenic 2 3 Long QT syndrome 1;not provided;Congenital long QT syndrome 2017-05-23 15.0 0.6666666666666666 Pathogenic 1 -53087 Simple 199472709 A . Pathogenic 2 2 Atrial fibrillation, familial, 3;Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome 2017-06-20 12.0 0.0 Pathogenic/Likely pathogenic 1 -53090 Simple 199472712 A . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-08-04 9.0 0.5 Pathogenic/Likely pathogenic 0 -53091 Simple 199472713 T . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-08 12.0 0.0 Pathogenic/Likely pathogenic 1 -53100 Simple 199472719 T . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-02 12.0 0.0 Pathogenic/Likely pathogenic 0 -53101 Simple 199472720 A . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-08-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -53108 Simple 199473460 C . Pathogenic/Likely pathogenic 2 3 Long QT syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-09-15 15.0 0.3333333333333333 Pathogenic 1 -53109 Simple 199472726 A . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-20 11.4 1.0 Pathogenic/Likely pathogenic 1 -53115 Simple 199472730 G . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2016-11-14 6.0 3.5 Likely pathogenic 1 -53116 Simple 199472730 T . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-10-27 10.8 1.5 Pathogenic/Likely pathogenic 0 -53124 Simple 120074186 A . Pathogenic 2 2 Long QT syndrome;not provided 2017-04-06 12.0 0.5 Pathogenic/Likely pathogenic 1 -53151 Simple 199472755 T . Pathogenic/Likely pathogenic 2 3 Long QT syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-06-12 16.2 1.6666666666666667 Pathogenic 1 -53152 Simple 199472756 A . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-07-07 12.0 0.0 Pathogenic/Likely pathogenic 0 -53157 Simple 369326781 C . Likely benign 2 2 Cystic fibrosis;not specified 2017-04-07 -5.7 1.0 Likely benign 0 -53158 Simple 397508136 . . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53161 Simple 397508138 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53162 Simple 397508139 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53167 Simple 397508144 C . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53170 Simple 121908774 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 11.399999999999999 1.5 Pathogenic/Likely pathogenic 1 -53190 Simple 397508158 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -53204 Simple 397508168 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 11.399999999999999 1.5 Pathogenic/Likely pathogenic 1 -53211 Simple 397508173 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53212 Simple 397508174 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53213 Simple 397508175 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53214 Simple 397508176 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53222 Simple 397508183 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53233 Simple 397508192 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53238 Simple 151020603 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53242 Simple 397508200 A . Pathogenic 3 4 Cystic fibrosis;not specified;not provided 2017-03-17 22.8 1.0 Pathogenic 0 -53243 Simple 397508201 G . Pathogenic 3 3 Cystic fibrosis 2017-03-17 18.6 0.6666666666666666 Pathogenic 0 -53244 Simple 121908805 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53251 Simple 397508205 - . Pathogenic 3 3 Cystic fibrosis;not provided 2017-03-17 18.6 0.3333333333333333 Pathogenic 0 -53259 Simple 397508211 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53265 Simple 397508216 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53282 Simple 397508227 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53285 Simple 397508230 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53303 Simple 397508243 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53305 Simple 397508243 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53312 Simple 397508247 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53314 Simple 397508249 A . Pathogenic 3 3 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 17.4 1.3333333333333333 Pathogenic 0 -53319 Simple 397508251 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53325 Simple 397508256 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53331 Simple 397508261 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.3 1.0 Pathogenic/Likely pathogenic 1 -53332 Simple 213965 A . Benign 2 2 Cystic fibrosis;not specified 2014-12-12 -9.0 3.5 Benign/Likely benign 1 -53335 Simple 397508263 C . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53338 Simple 397508266 G . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.0 Pathogenic/Likely pathogenic 1 -53339 Simple 397508267 C . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53349 Simple 397508274 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53352 Simple 397508276 G . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53355 Simple 397508279 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53373 Simple 397508295 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53374 Simple 397508296 T . Pathogenic 3 4 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 22.2 1.75 Pathogenic 0 -53376 Simple 121908748 C . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -53379 Simple 397508298 G . Pathogenic 3 3 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 18.6 0.6666666666666666 Pathogenic 0 -53388 Simple 397508303 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53417 Simple 121908780 AGAAA . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53421 Simple 397508325 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -53423 Simple 397508328 G . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53425 Simple 368505753 T . Pathogenic 3 5 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 25.8 1.6 Pathogenic 0 -53427 Simple 397508331 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53434 Simple 397508336 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53440 Simple 121908760 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -53442 Simple 397508343 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53451 Simple 397508350 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53455 Simple 397508353 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53456 Simple 142540482 A . Uncertain significance 2 3 Cystic fibrosis;not specified 2016-12-03 -0.8999999999999999 1.0 Uncertain significance 0 -53471 Simple 121908810 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -53475 Simple 397508360 TT . Pathogenic 3 3 Cystic fibrosis;not provided 2017-03-17 18.0 1.0 Pathogenic 0 -53480 Simple 374946172 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53483 Simple 145449046 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53492 Simple 397508378 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53501 Simple 397508387 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53508 Simple 397508393 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53509 Simple 397508394 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53515 Simple 397508399 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53516 Simple 397508400 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53532 Simple 397508412 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53534 Simple 397508412 G . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.6 0.5 Pathogenic/Likely pathogenic 1 -53535 Simple 397508413 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53549 Simple 121908791 A . Pathogenic 3 3 Cystic fibrosis;not provided 2017-03-17 17.4 1.3333333333333333 Pathogenic 0 -53550 Simple 121909034 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53552 Simple 149790377 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53563 Simple 397508431 AGAG . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53568 Simple 397508435 C . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.6 0.5 Pathogenic/Likely pathogenic 1 -53574 Simple 397508441 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53575 Simple 397508442 T . Pathogenic 3 4 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 22.2 1.75 Pathogenic 0 -53581 Simple 397508445 . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53583 Simple 397508447 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53587 Simple 397508451 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53590 Simple 397508453 C . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53600 Simple 397508461 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53613 Simple 397508470 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53614 Simple 193922515 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53623 Simple 397508477 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53635 Simple 397508485 CC . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53636 Simple 121908781 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -53638 Simple 149279509 G . Uncertain significance 2 2 not specified 2017-04-28 -0.51 2.0 Uncertain significance 0 -53653 Simple 397508499 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53654 Simple 397508500 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53660 Simple 397508505 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53667 Simple 397508510 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53672 Simple 142394380 C . Pathogenic 3 2 Cystic fibrosis;not specified 2017-03-17 6.39 2.0 Likely pathogenic 2 -53685 Simple 202179988 T . Pathogenic/Likely pathogenic 2 2 Cystic fibrosis;Congenital bilateral absence of the vas deferens;not provided 2016-09-29 8.4 1.5 Pathogenic/Likely pathogenic 0 -53688 Simple 186045772 A . Pathogenic/Likely pathogenic 2 2 Cystic fibrosis;not provided 2017-07-13 8.4 1.5 Pathogenic/Likely pathogenic 0 -53690 Simple 139304906 C . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53696 Simple 121908798 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53708 Simple 397508532 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53713 Simple 397508536 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53715 Simple 397508538 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53741 Simple 397508561 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53750 Simple 139729994 A . Pathogenic 3 4 Cystic fibrosis;not specified;not provided 2017-03-17 11.76 1.75 Pathogenic/Likely pathogenic 1 -53777 Simple 397508587 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53779 Simple 121908765 A . Pathogenic 3 4 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 19.2 3.0 Pathogenic 0 -53789 Simple 397508595 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53791 Simple 144781064 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53793 Simple 397508596 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53797 Simple 267606723 A . Pathogenic, drug response 3 1 Cystic fibrosis;ivacaftor response - Efficacy 2017-03-17 . 0.0 . 0 -53805 Simple 397508604 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53828 Simple 146795445 C . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53838 Simple 387906373 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53839 Simple 397508630 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53841 Simple 121908808 TT . Pathogenic 3 3 Cystic fibrosis;not provided 2017-03-17 18.6 0.6666666666666666 Pathogenic 0 -53843 Simple 397508633 TT . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53847 Simple 397508637 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53883 Simple 397508668 AA . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53887 Simple 397508672 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53891 Simple 397508675 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53902 Simple 397508684 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53903 Simple 397508685 AA . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53925 Simple 397508701 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53926 Simple 397508702 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53928 Simple 138642693 C . Benign 2 2 Cystic fibrosis;not specified 2017-04-19 -10.2 2.0 Benign/Likely benign 1 -53929 Simple 372227120 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53930 Simple 372227120 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53933 Simple 397508706 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -53941 Simple 148783445 A . Uncertain significance 2 2 Cystic fibrosis;not specified 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -53947 Simple 374705585 T . Pathogenic 2 3 Cystic fibrosis;Hereditary pancreatitis;not specified 2016-11-08 14.4 3.0 Pathogenic/Likely pathogenic 1 -53948 Simple 121908770 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -53980 Simple 397508740 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53983 Simple 1800079 A . Uncertain significance 2 4 Cystic fibrosis;Congenital bilateral absence of the vas deferens;not specified 2017-10-17 -1.14 1.0 Uncertain significance 0 -53984 Simple 397508742 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -53988 Simple 397508746 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -53991 Simple 121908771 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -53996 Simple 397508750 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -54007 Simple 397508759 T . Pathogenic 3 5 Cystic fibrosis;Hereditary pancreatitis;not specified 2017-03-17 24.599999999999998 1.8 Pathogenic 0 -54010 Simple 397508761 G . Pathogenic 3 3 Cystic fibrosis;not provided 2017-03-17 18.6 0.3333333333333333 Pathogenic 0 -54012 Simple 78440224 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -54014 Simple 121908793 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.0 Pathogenic/Likely pathogenic 1 -54018 Simple 121908802 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.6 0.5 Pathogenic/Likely pathogenic 1 -54026 Simple 121908803 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -54033 Simple 397508775 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -54036 Simple 397508778 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -54040 Simple 397508782 G . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -54055 Simple 191456345 G . Uncertain significance 2 3 Cystic fibrosis;not specified 2017-05-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -54061 Simple 397508796 T . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.5 Pathogenic/Likely pathogenic 1 -54064 Simple 397508799 A . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -54072 Simple 397508805 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -54097 Simple 397508824 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -54099 Simple 41286290 A . Benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -19.740000000000002 1.25 Benign/Likely benign 1 -54100 Simple 67284603 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54101 Simple 397508826 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.6 Pathogenic 0 -54102 Simple 80357569 TT . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 51.6 1.4444444444444444 Pathogenic 0 -54103 Simple 80357750 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -54105 Simple 397508827 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -54107 Simple 80357338 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54108 Simple 80357472 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.6 Pathogenic 0 -54109 Simple 80356908 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 23.4 1.5 Pathogenic 0 -54110 Simple 80356935 T . Pathogenic 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 29.4 1.2 Pathogenic 0 -54113 Simple 41286292 T . Likely benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -29.4 2.0 Benign 2 -54114 Simple 80357215 A . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.2 1.6666666666666667 Pathogenic 0 -54115 Simple 80357796 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54116 Simple 397508830 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54117 Simple 80357836 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -54121 Simple 397508833 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54122 Simple 80359880 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.1666666666666667 Pathogenic 0 -54123 Simple 80357897 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54124 Simple 80357954 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54125 Simple 397508834 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54128 Simple 80357139 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 17.4 1.6666666666666667 Pathogenic 0 -54131 Simple 80356880 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2015-08-10 . 2.0 . 0 -54134 Simple 397508838 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54135 Simple 80357468 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 27.6 2.0 Pathogenic 0 -54137 Simple 273897652 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54140 Simple 80357821 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -54141 Simple 80357949 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -54143 Simple 56128296 C . Benign/Likely benign 2 12 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-30 -52.5 2.5833333333333335 Benign 1 -54144 Simple 397508840 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54145 Simple 80357385 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54146 Simple 1800062 T . Benign 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -55.68 2.5 Benign 0 -54148 Simple 397508841 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54152 Simple 80357164 G . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-08-10 28.740000000000002 1.4 Pathogenic 0 -54154 Simple 80357985 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54155 Simple 273897653 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54157 Simple 80357972 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -54158 Simple 397508845 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54160 Simple 80357068 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -54161 Simple 273897655 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54162 Simple 80357859 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -54164 Simple 80357481 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54166 Simple 80357276 C . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 26.34 1.3333333333333333 Pathogenic 0 -54169 Simple 397508848 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54170 Simple 80357964 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54171 Simple 80357514 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54173 Simple 80357943 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54176 Simple 80357083 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -54177 Simple 80357535 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -54182 Simple 80357809 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54183 Simple 80357417 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -54184 Simple 80357766 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -54186 Simple 80357576 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 24.0 1.0 Pathogenic 0 -54187 Simple 80357346 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54188 Simple 80357528 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54190 Simple 80357794 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -54191 Simple 80357327 T . Pathogenic 3 7 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 39.54 1.7142857142857142 Pathogenic 0 -54194 Simple 80357951 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54197 Simple 80357683 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54199 Simple 80357446 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 26.34 1.4 Pathogenic 0 -54201 Simple 80357570 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54202 Simple 397508854 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.25 Pathogenic 0 -54203 Simple 80356915 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -0.8999999999999999 0.0 Uncertain significance 0 -54204 Simple 80356915 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54205 Simple 80357978 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54207 Simple 397508856 A . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-06-10 11.4 1.5 Pathogenic/Likely pathogenic 1 -54208 Simple 397508857 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided 2016-09-08 24.0 1.0 Pathogenic 0 -54214 Simple 80358085 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-10-13 -0.81 1.6666666666666667 Uncertain significance 0 -54215 Simple 80358158 G . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-28 17.4 1.0 Pathogenic 0 -54217 Simple 80356891 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -54218 Simple 80356891 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54220 Simple 80357181 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-08 -0.8999999999999999 1.0 Uncertain significance 0 -54222 Simple 80357360 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.87 1.0 Uncertain significance 0 -54223 Simple 397508861 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54224 Simple 397508862 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54226 Simple 80357714 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -54227 Simple 62625300 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-07 -1.2 0.5 Uncertain significance 0 -54228 Simple 56046357 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -0.5700000000000001 1.0 Uncertain significance 0 -54229 Simple 80357879 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54230 Simple 80357221 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer 2017-07-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -54232 Simple 80357722 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 33.6 1.6666666666666667 Pathogenic 0 -54234 Simple 397508866 CTTTC . Pathogenic 2 3 Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-04 16.8 1.3333333333333333 Pathogenic 0 -54236 Simple 80357770 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54238 Simple 397508868 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54240 Simple 80356964 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-02-28 -0.87 1.3333333333333333 Uncertain significance 0 -54241 Simple 80357279 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54243 Simple 397508870 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54244 Simple 397508871 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54248 Simple 80357057 C . Benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -14.64 1.0 Benign/Likely benign 1 -54249 Simple 80357057 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -54250 Simple 80357490 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54252 Simple 80357505 TT . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 27.6 1.8 Pathogenic 0 -54253 Simple 80357648 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54254 Simple 80358327 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -54255 Simple 80357489 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.87 1.0 Uncertain significance 0 -54256 Simple 80357682 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54257 Simple 80357304 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54258 Simple 55906931 G . Benign 3 13 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -46.71 2.230769230769231 Benign 0 -54262 Simple 80357167 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 18.0 1.0 Pathogenic 0 -54264 Simple 62625303 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 27.6 1.8 Pathogenic 0 -54266 Simple 397508872 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54268 Simple 80357527 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54271 Simple 397508874 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54275 Simple 80357506 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 23.4 1.25 Pathogenic 0 -54276 Simple 273897662 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54277 Simple 80357445 A . Uncertain significance 2 6 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-13 -1.5899999999999999 2.0 Uncertain significance 0 -54278 Simple 56272539 T . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer 2015-08-10 -22.38 1.8333333333333333 Benign/Likely benign 1 -54279 Simple 80357817 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54280 Simple 397508877 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -54281 Simple 397508878 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54285 Simple 80357782 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54286 Simple 80357427 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -54287 Simple 80357735 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -54289 Simple 80357630 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -54295 Simple 397508885 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-20 -0.51 2.5 Uncertain significance 0 -54297 Simple 80357333 A . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.71 1.0 Uncertain significance 0 -54299 Simple 80356984 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -54301 Simple 80357613 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54303 Simple 142074233 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided 2016-10-18 23.4 1.25 Pathogenic 0 -54305 Simple 397508889 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54306 Simple 80357698 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54307 Simple 80356864 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -54309 Simple 80356893 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -54311 Simple 80356904 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-04-22 18.0 1.0 Pathogenic 0 -54312 Simple 397508891 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54313 Simple 80356952 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -54315 Simple 80359881 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -54318 Simple 80357619 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54322 Simple 397508896 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54328 Simple 80356910 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-12-26 -0.6 1.0 Uncertain significance 0 -54331 Simple 80357640 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -54332 Simple 397508900 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54334 Simple 397508902 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-30 -1.2 0.5 Uncertain significance 0 -54335 Simple 397508903 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 22.2 2.0 Pathogenic 0 -54336 Simple 80357834 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54337 Simple 397508904 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -54341 Simple 80356928 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54343 Simple 80357723 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54346 Simple 80357901 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54348 Simple 55650082 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -54349 Simple 80357471 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-04-22 17.4 1.6666666666666667 Pathogenic 0 -54351 Simple 80357118 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -54352 Simple 80357118 C . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -54353 Simple 80357591 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -54355 Simple 397508908 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54356 Simple 397508909 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54358 Simple 80357220 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54361 Simple 80357585 - . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 45.0 1.625 Pathogenic 0 -54362 Simple 397508911 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54365 Simple 397508912 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 20.4 1.75 Pathogenic 0 -54366 Simple 397508913 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -54367 Simple 80357245 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.47 0.8 Uncertain significance 0 -54368 Simple 80357652 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54369 Simple 80357282 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54371 Simple 56039126 A . Benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -23.82 1.5555555555555556 Benign/Likely benign 1 -54372 Simple 1800064 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54375 Simple 80356950 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54376 Simple 80357516 ACTAACTA . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 39.0 1.7142857142857142 Pathogenic 0 -54377 Simple 80357425 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-25 -0.8999999999999999 1.0 Uncertain significance 0 -54378 Simple 80356838 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-04 -1.2 0.25 Uncertain significance 0 -54379 Simple 80357567 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.0 Pathogenic 0 -54381 Simple 80357086 T . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 48.0 0.75 Pathogenic 0 -54383 Simple 80357932 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -54384 Simple 80356834 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54385 Simple 80356983 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -54388 Simple 80357851 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54389 Simple 80356956 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -1.17 1.0 Uncertain significance 0 -54390 Simple 273897665 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54393 Simple 397508916 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54396 Simple 62625305 G . Likely benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -35.4 2.3333333333333335 Benign 2 -54397 Simple 80357005 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54398 Simple 80357933 - . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 1 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54399 Simple 80357267 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 23.4 1.5 Pathogenic 0 -54400 Simple 55851803 T . Pathogenic/Likely pathogenic 2 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-11-09 36.0 1.4285714285714286 Pathogenic 1 -54401 Simple 80357344 G . Benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -13.74 1.75 Benign/Likely benign 1 -54404 Simple 80357129 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-23 -0.54 2.0 Uncertain significance 0 -54405 Simple 397508919 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54406 Simple 397508920 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54407 Simple 80356907 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -54408 Simple 80356907 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54409 Simple 397508921 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54410 Simple 397508922 - . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 1 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -54411 Simple 80357885 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54412 Simple 80357753 CC . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -54413 Simple 397508923 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54414 Simple 80357869 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not specified 2016-09-08 15.0 1.3333333333333333 Pathogenic 0 -54416 Simple 80357643 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -54417 Simple 80357853 TT . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 52.8 1.2222222222222223 Pathogenic 0 -54419 Simple 397508924 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -54423 Simple 397508926 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54424 Simple 28897679 C . Benign 3 14 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -66.78 2.357142857142857 Benign 0 -54429 Simple 80357922 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54430 Simple 80356889 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -54431 Simple 80357102 A . Benign 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer 2015-08-10 -36.45 1.6 Benign 0 -54433 Simple 80357029 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-17 -0.5700000000000001 1.5 Uncertain significance 0 -54435 Simple 397508929 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54436 Simple 80357391 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -54437 Simple 80357638 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54438 Simple 80357626 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 40.8 1.1428571428571428 Pathogenic 0 -54442 Simple 80357082 A . Pathogenic 3 12 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 69.0 1.0833333333333333 Pathogenic 0 -54443 Simple 397508932 GG . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.25 Pathogenic 0 -54447 Simple 397508934 A . Uncertain significance 2 6 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -1.74 1.0 Uncertain significance 0 -54448 Simple 273898674 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -54449 Simple 397508935 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54451 Simple 80357554 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-04-22 18.0 1.3333333333333333 Pathogenic 0 -54453 Simple 80356835 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54454 Simple 80357773 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -54459 Simple 273898677 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -54460 Simple 80357298 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54461 Simple 4986844 C . Benign 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -53.4 2.0 Benign 0 -54462 Simple 80357814 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -54465 Simple 80358042 A . Pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-06 27.6 1.6 Pathogenic 0 -54467 Simple 80358083 C . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 23.34 1.25 Pathogenic 0 -54469 Simple 80357871 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 28.8 1.4 Pathogenic 0 -54470 Simple 397508939 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -54471 Simple 80356913 T . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-10-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -54472 Simple 80358146 T . Pathogenic 2 1 Breast-ovarian cancer, familial 1;Neoplasm of the breast 2015-11-01 . 2.0 . 0 -54474 Simple 273898678 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -54475 Simple 273898679 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54476 Simple 80357147 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54477 Simple 397508941 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54478 Simple 80357715 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54483 Simple 273898680 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54484 Simple 397508945 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -54485 Simple 80357668 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -54486 Simple 80356912 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-06-03 -0.6 1.0 Uncertain significance 0 -54487 Simple 80357335 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.87 1.0 Uncertain significance 0 -54488 Simple 80357058 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54489 Simple 273898681 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -54490 Simple 397508946 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.5 Pathogenic 0 -54492 Simple 80357426 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54494 Simple 397508949 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -54495 Simple 80357507 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.4 Pathogenic 0 -54496 Simple 80357982 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54497 Simple 80357936 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54498 Simple 80357860 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54499 Simple 80357234 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -54500 Simple 80357793 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54502 Simple 397508951 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -54503 Simple 56329598 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54504 Simple 397508952 - . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 20.7 1.25 Pathogenic 0 -54505 Simple 80357415 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -54506 Simple 80357051 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-28 -1.17 0.75 Uncertain significance 0 -54508 Simple 4986846 G . Benign 3 7 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -30.6 1.5714285714285714 Benign 0 -54509 Simple 80357909 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54510 Simple 80357650 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -54511 Simple 397508953 GG . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54512 Simple 80357114 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-27 -0.5700000000000001 1.0 Uncertain significance 0 -54514 Simple 80357697 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54515 Simple 80357602 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54516 Simple 41286296 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54517 Simple 80357960 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-04-22 15.6 2.6666666666666665 Pathogenic 0 -54519 Simple 80356999 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54521 Simple 80357657 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54523 Simple 397508955 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54524 Simple 80357449 A . Pathogenic 3 6 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.2 1.6666666666666667 Pathogenic 0 -54527 Simple 80357063 T . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 51.6 1.4444444444444444 Pathogenic 0 -54529 Simple 80357209 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -0.5700000000000001 1.0 Uncertain significance 0 -54532 Simple 80357957 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -54533 Simple 80356847 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -3.5999999999999996 0.5 Uncertain significance 2 -54534 Simple 397508958 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54536 Simple 80357725 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -54537 Simple 80357884 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54538 Simple 80357444 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -54540 Simple 80356945 A . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 56.4 1.5 Pathogenic 0 -54543 Simple 397508960 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54544 Simple 80357820 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54545 Simple 397508961 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -54547 Simple 397508963 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54548 Simple 397508964 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.3333333333333333 Pathogenic 0 -54549 Simple 80357739 CC . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -54551 Simple 80357364 A . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-26 -1.71 1.0 Uncertain significance 0 -54552 Simple 80357695 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -54554 Simple 80357546 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54555 Simple 80357850 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54556 Simple 80357203 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -1.38 1.4 Uncertain significance 0 -54557 Simple 80357381 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54558 Simple 80357706 - . Pathogenic 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-02-09 21.0 2.25 Pathogenic 0 -54559 Simple 80357674 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -54560 Simple 80356982 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54561 Simple 55746541 G . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -24.84 1.6666666666666667 Benign 0 -54565 Simple 80357350 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 28.2 1.8 Pathogenic 0 -54567 Simple 28897682 A . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -28.740000000000002 2.3333333333333335 Benign 0 -54568 Simple 397508967 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54569 Simple 397508968 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54570 Simple 80357186 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -54572 Simple 80357598 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 1.0 Pathogenic 0 -54573 Simple 80357679 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54574 Simple 80357799 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54577 Simple 80357631 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54578 Simple 80357800 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54579 Simple 80357740 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54582 Simple 80358331 - . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.2 0.75 Uncertain significance 0 -54584 Simple 80357658 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54585 Simple 397508972 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54586 Simple 397508973 ATGGATACTTATGGATACTT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -54587 Simple 273899686 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54588 Simple 80357863 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54589 Simple 397508974 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54590 Simple 397508975 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54593 Simple 397508976 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-05-02 -0.6 0.5 Uncertain significance 0 -54595 Simple 80356951 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54599 Simple 80357835 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -54600 Simple 80357968 GCGC . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54602 Simple 397508981 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -54604 Simple 80356892 G . Benign 3 14 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -68.64 1.6428571428571428 Benign 0 -54605 Simple 80356832 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54606 Simple 80356832 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54607 Simple 397508983 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Neoplasm of the breast 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -54609 Simple 80357285 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-08-24 -0.54 2.0 Uncertain significance 0 -54610 Simple 80357003 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -54612 Simple 80357756 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -54613 Simple 80356911 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.14 1.25 Uncertain significance 0 -54614 Simple 80357091 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.1400000000000001 1.0 Uncertain significance 0 -54617 Simple 80357962 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54619 Simple 80357948 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54620 Simple 397508986 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.25 Pathogenic 0 -54621 Simple 80357948 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -54622 Simple 80357912 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54625 Simple 397508988 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 30.0 1.0 Pathogenic 0 -54626 Simple 397508989 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54627 Simple 80357513 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54629 Simple 397508990 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 16.8 2.0 Pathogenic 0 -54631 Simple 397508991 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54632 Simple 80357480 A . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -1.71 1.1666666666666667 Uncertain significance 0 -54634 Simple 80357200 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -1.47 1.0 Uncertain significance 0 -54636 Simple 80357659 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54639 Simple 80357518 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54643 Simple 397508996 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54644 Simple 397508997 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54645 Simple 397508998 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54646 Simple 80357636 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 33.0 1.6666666666666667 Pathogenic 0 -54650 Simple 397509000 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54652 Simple 80359879 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54653 Simple 80357899 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -54654 Simple 80357594 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54655 Simple 397509002 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided 2016-04-22 29.4 1.4 Pathogenic 0 -54656 Simple 80357731 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.1666666666666667 Pathogenic 0 -54657 Simple 80356978 A . Pathogenic 3 11 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 61.8 1.1818181818181819 Pathogenic 0 -54658 Simple 80357712 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54659 Simple 80357614 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54660 Simple 80357685 TT . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 22.8 1.5 Pathogenic 0 -54661 Simple 80357605 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 27.6 2.0 Pathogenic 0 -54663 Simple 397509005 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54664 Simple 1800740 C . Likely benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -34.8 1.8888888888888888 Benign 2 -54665 Simple 273899688 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-11 -0.5700000000000001 1.5 Uncertain significance 0 -54667 Simple 80357419 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54668 Simple 80357540 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54670 Simple 80357942 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54673 Simple 80357377 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -54674 Simple 80357703 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -54675 Simple 80357822 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -54677 Simple 80357812 - . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 43.8 2.0 Pathogenic 0 -54678 Simple 80357661 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.5 Pathogenic 0 -54680 Simple 80357256 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified 2016-06-07 -0.54 2.0 Uncertain significance 0 -54681 Simple 80357840 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54683 Simple 80357223 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 30.0 1.2 Pathogenic 0 -54684 Simple 397509012 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54685 Simple 397509013 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54687 Simple 273899689 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54688 Simple 80356851 C . Benign 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -48.48 2.0 Benign 0 -54691 Simple 80357458 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54692 Simple 397509015 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -54693 Simple 80358332 - . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-03-31 -0.5700000000000001 1.5 Uncertain significance 0 -54694 Simple 386134270 G . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 48.0 0.75 Pathogenic 0 -54695 Simple 80357519 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -54696 Simple 397509016 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54697 Simple 80357984 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54700 Simple 397509019 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54701 Simple 80357295 T . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.2857142857142858 Pathogenic 0 -54702 Simple 80357819 - . Pathogenic 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 47.4 1.0 Pathogenic 0 -54703 Simple 80356973 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54709 Simple 80356955 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-24 -0.87 1.3333333333333333 Uncertain significance 0 -54710 Simple 80357559 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-04-22 18.0 1.0 Pathogenic 0 -54712 Simple 80357738 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54713 Simple 80357893 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54715 Simple 397509023 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54716 Simple 80357573 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 15.0 1.3333333333333333 Pathogenic 0 -54718 Simple 80357611 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54719 Simple 80356872 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -54722 Simple 80357497 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -54725 Simple 273899691 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.2 Benign/Likely benign 1 -54726 Simple 80357741 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54729 Simple 80357627 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54730 Simple 397509026 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -54731 Simple 397509027 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54732 Simple 397507206 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 22.8 1.75 Pathogenic 0 -54735 Simple 397509030 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 16.8 2.0 Pathogenic 0 -54737 Simple 80357502 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54738 Simple 80357829 TTTT . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.200000000000003 1.8 Pathogenic 0 -54739 Simple 397509032 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54740 Simple 80356848 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54742 Simple 80357124 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-02 -0.6 1.0 Uncertain significance 0 -54744 Simple 80357991 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-04-22 29.4 1.2 Pathogenic 0 -54747 Simple 80357617 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.1666666666666667 Pathogenic 0 -54748 Simple 80357937 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54749 Simple 80357749 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.6 Pathogenic 0 -54751 Simple 80358116 G . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2015-08-10 . 2.0 . 0 -54753 Simple 273899695 - . Pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-01-20 28.200000000000003 1.6 Pathogenic 0 -54754 Simple 80357168 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54755 Simple 56321129 C . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Prostate cancer 2015-08-10 -28.98 2.4285714285714284 Benign 0 -54756 Simple 273899696 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54757 Simple 80357510 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 41.4 1.1428571428571428 Pathogenic 0 -54758 Simple 80356936 C . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -54760 Simple 80356933 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-12-19 -0.6 1.0 Uncertain significance 0 -54761 Simple 80357020 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -54763 Simple 80357856 TCTCATCTCA . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 51.0 1.4444444444444444 Pathogenic 0 -54764 Simple 80357004 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -54768 Simple 80357647 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.2 1.2857142857142858 Pathogenic 0 -54769 Simple 273899698 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54770 Simple 80357920 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54771 Simple 80357841 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54772 Simple 273899699 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 21.6 2.25 Pathogenic 0 -54773 Simple 397509035 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54776 Simple 80356899 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -54777 Simple 80356899 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -54778 Simple 80356837 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54779 Simple 397509038 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54780 Simple 28897673 C . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -31.740000000000002 2.2857142857142856 Benign 0 -54782 Simple 397509040 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -54786 Simple 397509044 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54789 Simple 80357424 A . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 49.8 1.5555555555555556 Pathogenic 0 -54791 Simple 80357950 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54792 Simple 80357702 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54794 Simple 273899701 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54796 Simple 80357511 CC . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 42.0 0.8571428571428571 Pathogenic 0 -54798 Simple 80357923 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -54799 Simple 80357544 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -54800 Simple 80357263 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -54801 Simple 273899703 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54804 Simple 80357145 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -54805 Simple 80357517 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54806 Simple 80357624 TCTC . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -54807 Simple 80357624 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -54808 Simple 80357006 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54810 Simple 80357006 C . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -54811 Simple 80357858 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54812 Simple 80357172 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-09 -0.78 2.3333333333333335 Uncertain significance 0 -54813 Simple 397509049 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -54815 Simple 80357402 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54816 Simple 397509050 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 33.6 1.6666666666666667 Pathogenic 0 -54817 Simple 397509051 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided 2016-09-08 26.4 1.6 Pathogenic 0 -54818 Simple 80357485 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -54819 Simple 80357533 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -54821 Simple 80357686 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -54823 Simple 80357992 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54824 Simple 80357815 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54826 Simple 80357754 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -54827 Simple 80357604 TT . Pathogenic 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 48.0 0.75 Pathogenic 0 -54829 Simple 80357811 G . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54830 Simple 41293447 T . Benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -39.84 2.111111111111111 Benign 0 -54831 Simple 80356900 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -54832 Simple 80357135 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-21 -0.6 1.0 Uncertain significance 0 -54833 Simple 80357317 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54835 Simple 397509054 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54836 Simple 80357106 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -54837 Simple 80357763 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54838 Simple 80357680 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54839 Simple 80357575 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54841 Simple 80357525 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54842 Simple 397509056 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.25 Pathogenic 0 -54843 Simple 80357692 TT . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -54845 Simple 80357089 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -54846 Simple 397509057 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54847 Simple 80357966 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.6 Pathogenic 0 -54848 Simple 80357421 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -54849 Simple 80357278 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54850 Simple 397509058 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 24.0 1.0 Pathogenic 0 -54851 Simple 273899705 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54852 Simple 80358336 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-04-13 -0.84 1.3333333333333333 Uncertain significance 0 -54854 Simple 397509059 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54855 Simple 80356949 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.87 1.0 Uncertain significance 0 -54856 Simple 80357843 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54858 Simple 80357865 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54859 Simple 80357892 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -54861 Simple 80357828 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Ovarian cancer;not provided 2016-09-08 30.0 0.8 Pathogenic 0 -54862 Simple 80356887 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -0.6 0.5 Uncertain significance 0 -54863 Simple 397509061 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54864 Simple 80357900 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54865 Simple 80357577 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-04-22 17.4 1.6666666666666667 Pathogenic 0 -54866 Simple 80356971 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;not provided 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54867 Simple 80356971 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54868 Simple 80357136 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 30.0 0.8 Pathogenic 0 -54869 Simple 80357329 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-01-07 -0.5700000000000001 1.5 Uncertain significance 0 -54873 Simple 80357228 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.14 1.25 Uncertain significance 0 -54875 Simple 273899706 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54879 Simple 80356843 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54881 Simple 397509066 TA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54882 Simple 80357881 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54883 Simple 80357369 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54885 Simple 397509067 - . Pathogenic 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 56.4 1.4 Pathogenic 0 -54891 Simple 80357484 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-08-10 . 2.0 . 0 -54894 Simple 397509072 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -54895 Simple 273899707 G . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54896 Simple 80357781 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -54901 Simple 397509076 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54902 Simple 80357134 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-04-22 29.4 1.4 Pathogenic 0 -54906 Simple 397509079 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54909 Simple 80357621 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 16.8 2.0 Pathogenic 0 -54913 Simple 80357296 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -54915 Simple 273899709 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54916 Simple 397509081 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not specified 2016-10-18 15.0 1.3333333333333333 Pathogenic 0 -54917 Simple 80356975 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -0.8999999999999999 1.0 Uncertain significance 0 -54918 Simple 80357845 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54920 Simple 397509083 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54921 Simple 80357663 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54922 Simple 80357290 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-03-27 -0.45 3.5 Uncertain significance 0 -54923 Simple 273900710 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54924 Simple 80357531 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54926 Simple 80356944 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-16 -0.87 1.3333333333333333 Uncertain significance 0 -54927 Simple 397509085 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54928 Simple 397509086 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54929 Simple 62625307 A . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 50.4 1.5555555555555556 Pathogenic 0 -54930 Simple 56214134 G . Benign/Likely benign 2 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -41.1 2.1 Benign 1 -54931 Simple 56214134 A . Benign/Likely benign 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -21.0 2.0 Benign/Likely benign 0 -54933 Simple 80356830 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -54935 Simple 55930959 T . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -25.41 1.5714285714285714 Benign 0 -54938 Simple 80357455 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54941 Simple 80357512 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54942 Simple 273900711 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-15 -0.6 0.0 Uncertain significance 0 -54943 Simple 80357571 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54946 Simple 397509090 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54947 Simple 80357589 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54948 Simple 80356923 T . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -27.240000000000002 1.8333333333333333 Benign 0 -54949 Simple 80356923 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 26.4 1.4 Pathogenic 0 -54950 Simple 80357805 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -54953 Simple 273900712 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -1.47 0.8 Uncertain significance 0 -54956 Simple 80356921 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-21 -0.5700000000000001 1.5 Uncertain significance 0 -54957 Simple 80357310 A . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 33.6 1.5 Pathogenic 0 -54958 Simple 273900713 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -1.14 1.25 Uncertain significance 0 -54959 Simple 80357356 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -54960 Simple 80357797 GGAAGGAA . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 36.0 0.8333333333333334 Pathogenic 0 -54961 Simple 80357671 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54962 Simple 397509092 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54966 Simple 397509094 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54967 Simple 397509095 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54968 Simple 80357666 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -54969 Simple 80357552 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54971 Simple 80357448 C . Benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-08-10 -10.74 2.5 Benign/Likely benign 1 -54972 Simple 80357564 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 21.6 2.25 Pathogenic 0 -54975 Simple 273900714 G . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -54978 Simple 80356903 A . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 35.4 1.0 Pathogenic 0 -54981 Simple 80359882 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -54982 Simple 80357037 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -54983 Simple 273900715 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -54984 Simple 80357578 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54985 Simple 80357191 T . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.44 1.5 Benign/Likely benign 1 -54986 Simple 80357099 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-21 -0.6 0.5 Uncertain significance 0 -54987 Simple 28897686 T . Benign 3 11 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -44.04 2.1818181818181817 Benign 0 -54988 Simple 397509098 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54989 Simple 397509099 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54991 Simple 80356852 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.5 Benign/Likely benign 1 -54992 Simple 80357687 AA . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.1666666666666667 Pathogenic 0 -54993 Simple 397509101 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -54994 Simple 80357362 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -0.81 1.6666666666666667 Uncertain significance 0 -54995 Simple 80357986 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54996 Simple 80357645 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -54997 Simple 397509103 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -55001 Simple 397509106 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55002 Simple 80357798 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55004 Simple 80357545 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55005 Simple 80356831 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.5 1.0 Benign/Likely benign 1 -55006 Simple 80357269 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55008 Simple 80357767 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55009 Simple 80357160 G . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -21.54 1.6 Benign/Likely benign 1 -55010 Simple 80357530 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.3333333333333333 Pathogenic 0 -55012 Simple 80357189 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.2 0.25 Uncertain significance 0 -55013 Simple 397509108 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55014 Simple 397509109 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55015 Simple 80357208 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -55016 Simple 397509110 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55017 Simple 80357616 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55021 Simple 273900717 GCCT . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 22.8 1.75 Pathogenic 0 -55022 Simple 80356866 A . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.3333333333333333 Pathogenic 0 -55023 Simple 80357584 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55025 Simple 80357483 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified 2016-07-21 -0.5700000000000001 1.5 Uncertain significance 0 -55026 Simple 397509113 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55030 Simple 80357855 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55031 Simple 273900718 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55032 Simple 80357918 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 28.8 1.6 Pathogenic 0 -55036 Simple 80357213 A . Uncertain significance 1 1 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2014-06-26 . 3.0 . 0 -55039 Simple 80357440 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -55040 Simple 80357038 A . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 31.2 1.3333333333333333 Pathogenic 0 -55041 Simple 56055578 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-11-09 -0.48 3.0 Uncertain significance 0 -55043 Simple 80357646 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55045 Simple 80357461 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -55046 Simple 80356888 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -55047 Simple 397509117 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55048 Simple 397509118 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55049 Simple 80357678 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -55050 Simple 80357207 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -55051 Simple 397509119 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55054 Simple 80357864 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55055 Simple 80357504 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55058 Simple 397509121 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-18 -0.6 1.0 Uncertain significance 0 -55059 Simple 80357343 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -55061 Simple 80357979 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55062 Simple 80357262 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -55063 Simple 397509122 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -55064 Simple 80357413 T . Benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -31.740000000000002 1.2222222222222223 Benign 0 -55065 Simple 80357987 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55066 Simple 80357904 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -55068 Simple 397509123 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55071 Simple 80357568 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55072 Simple 80357475 A . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-14 16.8 1.6666666666666667 Pathogenic 0 -55073 Simple 397509127 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55074 Simple 397509128 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55076 Simple 80356828 C . Likely benign 3 2 Breast-ovarian cancer, familial 1 2017-06-29 -6.0 1.0 Likely benign 0 -55077 Simple 55639854 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -1.17 0.75 Uncertain significance 0 -55082 Simple 80357727 - . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 49.8 1.0 Pathogenic 0 -55083 Simple 397509130 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55085 Simple 80357345 A . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -16.89 2.2 Benign/Likely benign 1 -55086 Simple 397509131 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -55087 Simple 397509132 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55088 Simple 80357779 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55090 Simple 80357178 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -55091 Simple 397509133 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55092 Simple 397509134 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55093 Simple 80358341 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -0.87 1.0 Uncertain significance 0 -55094 Simple 397509135 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55095 Simple 80357709 TT . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -55097 Simple 80356846 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -55098 Simple 80357456 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55099 Simple 80357218 G . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -25.14 1.1666666666666667 Benign 0 -55100 Simple 80357737 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55101 Simple 397509137 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55103 Simple 80358019 C . Pathogenic 2 2 Breast-ovarian cancer, familial 1;not provided 2017-10-19 11.4 1.0 Pathogenic/Likely pathogenic 1 -55104 Simple 397509139 AGATAGAT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55107 Simple 80357691 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55108 Simple 80357397 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55109 Simple 80357816 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55112 Simple 397509141 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 28.8 1.6 Pathogenic 0 -55113 Simple 397509142 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.0 Pathogenic 0 -55114 Simple 80357372 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -55115 Simple 80357565 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -55116 Simple 80357532 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55117 Simple 80357572 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 1.0 Pathogenic 0 -55118 Simple 397509143 CTCT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55120 Simple 397509144 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55121 Simple 80357538 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55124 Simple 80357742 GAGA . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55125 Simple 80357260 A . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 40.2 2.125 Pathogenic 0 -55131 Simple 80356857 T . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-02-19 16.200000000000003 2.0 Pathogenic 0 -55135 Simple 80357011 A . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -55136 Simple 80357649 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55139 Simple 397509151 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -55140 Simple 80357365 A . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -25.14 1.6666666666666667 Benign 0 -55142 Simple 80357765 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55145 Simple 80356989 A . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 57.6 1.4 Pathogenic 0 -55146 Simple 397509152 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55149 Simple 397509154 GG . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -55151 Simple 41293453 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.4 Benign/Likely benign 1 -55154 Simple 80357309 G . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -15.84 2.0 Benign/Likely benign 1 -55155 Simple 80357305 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 22.8 1.75 Pathogenic 0 -55157 Simple 80357079 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -1.47 0.8 Uncertain significance 0 -55159 Simple 397509158 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -55164 Simple 80357790 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55166 Simple 80356856 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -55167 Simple 397509162 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -55168 Simple 80357748 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55170 Simple 397509163 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55171 Simple 80357825 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55172 Simple 397509164 TTCTTTCT . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.4 Pathogenic 0 -55173 Simple 80357067 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55176 Simple 80356840 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.4 1.0 Benign/Likely benign 1 -55178 Simple 80358027 A . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-05-24 16.8 1.3333333333333333 Pathogenic 0 -55182 Simple 80357130 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55183 Simple 80356932 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.5 Pathogenic 0 -55184 Simple 80359885 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -55185 Simple 397509167 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-14 -0.51 2.5 Uncertain significance 0 -55187 Simple 80356997 T . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 48.0 0.75 Pathogenic 0 -55191 Simple 397509171 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55193 Simple 80357022 G . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -19.44 1.6 Benign/Likely benign 1 -55195 Simple 397509172 T . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-06-06 8.4 1.5 Pathogenic/Likely pathogenic 0 -55197 Simple 397509174 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55199 Simple 397509176 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55203 Simple 80356870 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-01 -0.51 2.5 Uncertain significance 0 -55204 Simple 397509179 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55205 Simple 397509180 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55206 Simple 80357126 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-08-23 -0.5700000000000001 1.5 Uncertain significance 0 -55208 Simple 80357148 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -55209 Simple 80357148 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55210 Simple 80358022 C . Benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -43.68 2.3333333333333335 Benign 0 -55213 Simple 80358189 T . Pathogenic/Likely pathogenic 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-01-06 28.8 2.1666666666666665 Pathogenic 1 -55215 Simple 80356953 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55216 Simple 80356953 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -55218 Simple 80357383 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-03-09 -0.51 2.5 Uncertain significance 0 -55219 Simple 80357437 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 21.6 2.25 Pathogenic 0 -55220 Simple 273900736 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55221 Simple 80356885 T . Pathogenic 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 57.6 1.3 Pathogenic 0 -55222 Simple 397509182 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55223 Simple 80357534 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55224 Simple 80357137 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.54 1.5 Uncertain significance 0 -55226 Simple 80356881 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55229 Simple 80357813 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 36.0 0.6666666666666666 Pathogenic 0 -55230 Simple 397509184 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55234 Simple 80357699 AG . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -55235 Simple 55815649 T . Benign 3 10 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -50.64 2.1 Benign 0 -55236 Simple 80357366 A . Pathogenic 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -55237 Simple 80357229 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -55238 Simple 80357915 C . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -55239 Simple 80356992 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -55240 Simple 80357277 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55241 Simple 80357248 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55243 Simple 80357542 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 22.2 2.0 Pathogenic 0 -55244 Simple 80356917 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2014-10-15 -0.48 3.0 Uncertain significance 0 -55245 Simple 28897691 T . Benign 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -38.64 2.375 Benign 0 -55246 Simple 28897691 A . Benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -13.74 2.0 Benign/Likely benign 1 -55247 Simple 80357180 C . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -24.54 2.0 Benign 0 -55249 Simple 273900737 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -1.11 1.5 Uncertain significance 0 -55251 Simple 80357076 A . Uncertain significance 2 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -2.1 0.7142857142857143 Uncertain significance 0 -55252 Simple 80357561 - . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 19.8 1.75 Pathogenic 0 -55253 Simple 80357151 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55254 Simple 80357431 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-05-27 -0.5700000000000001 1.5 Uncertain significance 0 -55256 Simple 80358044 T . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 34.74 1.1666666666666667 Pathogenic 0 -55257 Simple 80357349 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -55258 Simple 397509187 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55260 Simple 397509188 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55262 Simple 56119278 G . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -22.44 1.6 Benign/Likely benign 1 -55263 Simple 397509189 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -55266 Simple 80357045 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -55269 Simple 80357718 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55271 Simple 397509191 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55276 Simple 397509193 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55278 Simple 80357907 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55280 Simple 80357837 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.2 1.6666666666666667 Pathogenic 0 -55281 Simple 397509195 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55290 Simple 80357303 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -55291 Simple 80357352 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -55293 Simple 28897693 C . Benign 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -42.9 2.0 Benign 0 -55294 Simple 80356833 G . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -24.9 1.3333333333333333 Benign 2 -55297 Simple 80356842 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -55299 Simple 397509199 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -55300 Simple 397509200 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55301 Simple 70953660 A . Benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -21.54 2.0 Benign/Likely benign 1 -55302 Simple 80356987 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-02-07 -1.47 1.2 Uncertain significance 0 -55303 Simple 55816927 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-08-18 -0.5700000000000001 1.5 Uncertain significance 0 -55304 Simple 80357708 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55305 Simple 397509201 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55307 Simple 80357158 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-05-12 -0.6 0.5 Uncertain significance 0 -55310 Simple 80356850 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -55311 Simple 200432771 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -55312 Simple 397509203 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55314 Simple 80357048 A . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -27.54 1.5714285714285714 Benign 0 -55317 Simple 397509205 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55318 Simple 80357016 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-09 -0.6 1.0 Uncertain significance 0 -55321 Simple 80357373 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-03 -1.41 1.6 Uncertain significance 0 -55322 Simple 80357653 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 30.0 0.6 Pathogenic 0 -55323 Simple 397509206 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55324 Simple 80357551 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55325 Simple 80357302 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -55326 Simple 80357905 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55327 Simple 397509207 AAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55328 Simple 80357761 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 21.0 1.25 Pathogenic 0 -55329 Simple 80357762 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55334 Simple 397509209 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55338 Simple 80357401 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55339 Simple 28897695 G . Benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -20.34 1.5 Benign/Likely benign 1 -55344 Simple 80358086 C . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-31 22.8 2.4 Pathogenic 1 -55345 Simple 397509212 C . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2015-10-02 10.2 2.5 Pathogenic/Likely pathogenic 0 -55346 Simple 397509213 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-12-19 -0.54 2.0 Uncertain significance 0 -55352 Simple 397509216 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-10 -0.5700000000000001 1.5 Uncertain significance 0 -55353 Simple 80357204 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55354 Simple 80357938 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55355 Simple 80358343 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -55356 Simple 80357894 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55357 Simple 397509217 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55358 Simple 80357896 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.2 1.5714285714285714 Pathogenic 0 -55360 Simple 80357673 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55361 Simple 80356958 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-08-10 . 2.0 . 0 -55363 Simple 80356879 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55364 Simple 80356890 C . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 28.14 1.4 Pathogenic 0 -55365 Simple 80357043 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2015-08-10 11.34 2.0 Pathogenic/Likely pathogenic 1 -55367 Simple 80357133 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 21.6 2.25 Pathogenic 0 -55369 Simple 80357061 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-05-17 -0.51 2.5 Uncertain significance 0 -55371 Simple 397509219 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -0.87 0.6666666666666666 Uncertain significance 0 -55372 Simple 80357672 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55374 Simple 80356853 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -4.14 1.25 Uncertain significance 2 -55377 Simple 1800747 T . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-05-04 10.8 1.0 Pathogenic/Likely pathogenic 0 -55379 Simple 80358066 G . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-01-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -55383 Simple 397509222 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-13 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -55387 Simple 80356896 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.4 Pathogenic 0 -55388 Simple 80357760 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Neoplasm of the breast 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55393 Simple 80357325 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-03 -0.87 1.3333333333333333 Uncertain significance 0 -55394 Simple 80357710 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55395 Simple 55770810 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -55396 Simple 55770810 A . Pathogenic 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 1;Fanconi anemia, complementation group A;Ovarian cancer;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome;Breast and colorectal cancer 2015-08-10 61.74 1.0909090909090908 Pathogenic 0 -55401 Simple 80357608 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55402 Simple 80357553 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 27.0 2.2 Pathogenic 0 -55403 Simple 80356974 C . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 47.4 0.875 Pathogenic 0 -55404 Simple 397509228 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -55405 Simple 80356858 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -55406 Simple 80356860 G . Benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -33.24 1.7777777777777777 Benign 0 -55407 Simple 28897696 T . Pathogenic 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 70.74 1.4615384615384615 Pathogenic 0 -55408 Simple 80357874 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55409 Simple 397509229 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55410 Simple 80357418 T . Pathogenic 3 6 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.0 Pathogenic 0 -55411 Simple 80357997 - . Pathogenic 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 52.2 1.1111111111111112 Pathogenic 0 -55414 Simple 80357222 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2015-08-10 11.34 2.0 Pathogenic/Likely pathogenic 1 -55420 Simple 80356947 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -55421 Simple 80357872 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 39.6 1.4285714285714286 Pathogenic 0 -55422 Simple 80357720 - . Pathogenic 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -55423 Simple 80358094 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-08-10 11.34 2.0 Pathogenic/Likely pathogenic 1 -55428 Simple 3092994 T . Benign 3 2 Familial cancer of breast;Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -10.08 3.0 Benign/Likely benign 1 -55429 Simple 80358137 T . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2017-10-17 11.4 1.0 Pathogenic/Likely pathogenic 1 -55431 Simple 273901746 - . Pathogenic/Likely pathogenic 2 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-26 37.8 1.0 Pathogenic 1 -55432 Simple 41293461 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -55434 Simple 80357239 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -55436 Simple 80357743 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55437 Simple 80357895 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55438 Simple 56195342 C . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -26.34 2.1666666666666665 Benign 0 -55440 Simple 397509233 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55442 Simple 80357291 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55444 Simple 80357730 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55448 Simple 80358004 G . Pathogenic 2 3 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-02-11 14.4 3.0 Pathogenic/Likely pathogenic 1 -55449 Simple 397509236 - . Pathogenic 2 2 Breast-ovarian cancer, familial 1;not provided 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -55450 Simple 273901751 - . Pathogenic 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 21.6 1.75 Pathogenic 0 -55451 Simple 80358079 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-08-10 14.040000000000001 1.25 Pathogenic/Likely pathogenic 1 -55458 Simple 80357496 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -55460 Simple 80357639 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-22 16.8 2.0 Pathogenic 0 -55461 Simple 80356937 T . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-08-10 29.04 1.5 Pathogenic 0 -55469 Simple 80357852 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55473 Simple 80357367 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55477 Simple 80357676 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55480 Simple 80357123 A . Pathogenic 3 12 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 64.8 1.5 Pathogenic 0 -55481 Simple 80357442 T . Benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer 2015-08-10 -31.62 1.5555555555555556 Benign 0 -55485 Simple 80356844 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -55486 Simple 397509245 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55489 Simple 80357432 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55490 Simple 397509247 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55500 Simple 80358099 T . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 14.4 1.0 Pathogenic/Likely pathogenic 0 -55501 Simple 80358099 G . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-10-02 15.0 2.6666666666666665 Pathogenic 0 -55502 Simple 80358099 A . Pathogenic 2 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-12 23.4 1.0 Pathogenic 0 -55506 Simple 80357684 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -55508 Simple 397509255 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55510 Simple 80357281 G . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-08-10 14.34 1.6666666666666667 Pathogenic/Likely pathogenic 1 -55512 Simple 80357758 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55513 Simple 397509257 C . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.65 1.6666666666666667 Uncertain significance 0 -55514 Simple 397509258 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55515 Simple 273901761 T . Likely benign 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -25.2 1.375 Benign 2 -55516 Simple 80357581 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -55520 Simple 397509261 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -55522 Simple 80357428 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -55523 Simple 80357823 GG . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 33.0 1.8333333333333333 Pathogenic 0 -55524 Simple 80357818 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55526 Simple 80357751 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55527 Simple 80358041 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-03 30.0 1.0 Pathogenic 0 -55540 Simple 397509267 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -55542 Simple 397509268 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55543 Simple 80357694 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55544 Simple 80357219 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -55545 Simple 80357012 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-18 -1.65 1.6666666666666667 Uncertain significance 0 -55546 Simple 80356969 A . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.2857142857142858 Pathogenic 0 -55548 Simple 80357065 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-08-10 17.34 1.6666666666666667 Pathogenic 0 -55549 Simple 397509270 CT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55558 Simple 80357838 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55561 Simple 80358092 A . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -32.88 1.8571428571428572 Benign 0 -55563 Simple 397509279 C . Pathogenic/Likely pathogenic 2 2 not provided 2016-09-27 8.7 1.5 Pathogenic/Likely pathogenic 0 -55566 Simple 397509280 C . Likely benign 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2016-12-28 -6.0 1.0 Likely benign 0 -55567 Simple 80358002 C . Pathogenic 2 2 Breast-ovarian cancer, familial 1 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -55568 Simple 80356920 T . Benign 3 7 Breast-ovarian cancer, familial 1;Ovarian cancer;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -24.78 2.0 Benign 0 -55571 Simple 80357934 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -55577 Simple 397509283 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not specified;not provided 2016-10-18 25.8 1.6 Pathogenic 0 -55578 Simple 80357040 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-01 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -55579 Simple 80357946 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55580 Simple 80356962 T . Pathogenic 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 46.2 1.5 Pathogenic 0 -55581 Simple 397509284 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55582 Simple 397509285 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -55583 Simple 80356868 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55584 Simple 397509286 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -55589 Simple 8176316 T . Benign 3 11 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -55.08 2.272727272727273 Benign 0 -55590 Simple 80358030 A . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-04 17.1 1.25 Pathogenic 1 -55591 Simple 80357973 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.1428571428571428 Pathogenic 0 -55593 Simple 397509288 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 15.0 1.3333333333333333 Pathogenic 0 -55596 Simple 80357582 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2016-09-08 15.0 1.3333333333333333 Pathogenic 0 -55601 Simple 41293465 A . Pathogenic 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 60.6 1.8333333333333333 Pathogenic 0 -55602 Simple 80359883 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -55603 Simple 397509291 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55604 Simple 273902776 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-10-25 -1.47 0.6 Uncertain significance 0 -55605 Simple 80356942 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -1.05 2.0 Uncertain significance 0 -55606 Simple 80356942 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55608 Simple 80357307 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -55609 Simple 80356914 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55610 Simple 80357839 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55611 Simple 80357107 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2015-08-10 17.34 1.6666666666666667 Pathogenic 0 -55612 Simple 80357721 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -55616 Simple 80356829 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -55619 Simple 80356977 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55620 Simple 80356873 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 14.4 2.0 Pathogenic/Likely pathogenic 1 -55621 Simple 80356849 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -10.8 2.0 Benign/Likely benign 1 -55622 Simple 397509295 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -55623 Simple 397509296 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55625 Simple 397509297 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55626 Simple 80356841 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -55628 Simple 80357629 TT . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.6 0.6 Pathogenic 0 -55629 Simple 80357336 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55634 Simple 80357322 C . Benign 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -34.74 1.25 Benign 0 -55635 Simple 55688530 T . Benign 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 -55.38 2.6 Benign 0 -55638 Simple 397509299 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55639 Simple 80356845 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -55642 Simple 1799965 A . Benign 3 13 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-29 -54.9 2.076923076923077 Benign 0 -55646 Simple 80357394 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -55649 Simple 273902778 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55655 Simple 273902779 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-07-18 -0.78 2.3333333333333335 Uncertain significance 0 -55656 Simple 80357438 G . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2015-08-10 24.54 1.4285714285714286 Pathogenic 0 -55659 Simple 80357745 - . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -55663 Simple 80358108 G . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-02-14 17.4 1.3333333333333333 Pathogenic 0 -55665 Simple 397509308 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55666 Simple 80357824 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 26.7 1.2 Pathogenic 0 -55667 Simple 80357914 CTCT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -55668 Simple 397509309 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55669 Simple 80357001 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -0.8999999999999999 0.0 Uncertain significance 0 -55670 Simple 62625298 T . Likely benign 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.38 1.125 Benign/Likely benign 1 -55671 Simple 62625298 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -55672 Simple 55975699 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.2 0.25 Uncertain significance 0 -55675 Simple 397509310 GACAGACA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55676 Simple 80357696 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 40.2 1.4285714285714286 Pathogenic 0 -55677 Simple 80357396 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -0.6 0.5 Uncertain significance 0 -55681 Simple 80357700 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55682 Simple 80356865 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-21 -1.32 2.2 Uncertain significance 0 -55683 Simple 397509312 - . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55691 Simple 80356839 A . Likely benign 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -45.6 1.3 Benign 2 -55693 Simple 80357009 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55696 Simple 80357225 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-08-30 -0.87 1.3333333333333333 Uncertain significance 0 -55697 Simple 80357628 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55698 Simple 397509317 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;not specified 2017-06-29 -3.57 1.0 Uncertain significance 2 -55702 Simple 397509320 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -55705 Simple 80357707 - . Pathogenic 2 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2017-11-02 22.200000000000003 1.5 Pathogenic 0 -55707 Simple 80357955 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55708 Simple 201441987 G . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -21.0 1.0 Benign/Likely benign 1 -55709 Simple 397509323 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55713 Simple 80357392 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55714 Simple 80357965 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55721 Simple 80357244 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -1.1099999999999999 1.75 Uncertain significance 0 -55723 Simple 387906563 CCACATGGCTCCACATGGCT . Pathogenic 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 57.6 1.3 Pathogenic 0 -55724 Simple 80357331 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55727 Simple 397509328 A . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -55729 Simple 80357523 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55731 Simple 80357199 C . Benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -16.740000000000002 1.25 Benign/Likely benign 1 -55733 Simple 80357728 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -55735 Simple 80357989 GTAATGAGTAATGA . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome;Rhabdomyosarcoma 2016-10-18 27.6 2.0 Pathogenic 0 -55736 Simple 273902792 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55737 Simple 273902792 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -55738 Simple 397509330 A . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 29.4 1.2 Pathogenic 0 -55739 Simple 80357039 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-27 -0.6 0.5 Uncertain significance 0 -55740 Simple 80357719 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -55742 Simple 80356924 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-02-26 -0.54 2.0 Uncertain significance 0 -55743 Simple 80357103 T . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -21.54 2.2 Benign/Likely benign 1 -55744 Simple 80357670 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 33.6 1.8333333333333333 Pathogenic 0 -55745 Simple 397509331 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 23.4 1.5 Pathogenic 0 -55747 Simple 80356861 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-04-27 -0.5700000000000001 1.0 Uncertain significance 0 -55749 Simple 273903793 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55751 Simple 80357622 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55752 Simple 80357644 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55753 Simple 397509335 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -55754 Simple 80357953 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 0.75 Pathogenic 0 -55755 Simple 397509336 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55757 Simple 397509337 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55758 Simple 397509338 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55759 Simple 80357689 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -55762 Simple 80357211 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55763 Simple 80357555 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55764 Simple 397509339 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55768 Simple 273903794 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -55769 Simple 80357066 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-01-10 -0.8099999999999999 2.0 Uncertain significance 0 -55770 Simple 80357610 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -55771 Simple 1800063 C . Benign 3 9 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -38.1 1.8888888888888888 Benign 0 -55772 Simple 80357772 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-04-22 35.4 0.8333333333333334 Pathogenic 0 -55775 Simple 80357176 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-18 -1.17 0.75 Uncertain significance 0 -55777 Simple 80356836 A . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.25 Benign/Likely benign 1 -55789 Simple 80359281 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -55790 Simple 80358421 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55791 Simple 80359356 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 15.6 2.6666666666666665 Pathogenic 0 -55792 Simple 397509342 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -55795 Simple 181589369 G . Benign 2 1 not specified;Rasopathy 2012-04-02 . 5.0 . 0 -55796 Simple 2510152 T . Benign 2 1 not specified;not provided;Rasopathy 2012-01-09 . 6.0 . 0 -55840 Simple 142371860 T . Pathogenic/Likely pathogenic 2 2 Kartagener syndrome;Primary ciliary dyskinesia;Ciliary dyskinesia, primary, 21 2017-02-28 8.7 1.5 Pathogenic/Likely pathogenic 0 -55847 Simple 147674680 A . Benign/Likely benign, association 2 3 Atrioventricular septal defect;Hypoplastic left heart syndrome 1;Pulmonary atresia with ventricular septal defect;Heterotaxy syndrome;not specified;not provided;Congenital atresia of aortic valve;Congenital atresia of mitral valve;Single Ventricle Defect;Intellectual Disability with Language Impairment and Autistic Features 2016-11-30 -10.8 1.6666666666666667 Benign/Likely benign 0 -55848 Simple 367543286 A . Pathogenic 2 4 Infantile myofibromatosis 1;not provided;Infantile myofibromatosis 2017-04-10 21.6 1.75 Pathogenic 0 -55939 Simple 386833420 - . Pathogenic/Likely pathogenic 2 2 Aspartylglycosaminuria 2015-02-20 7.199999999999999 3.0 Likely pathogenic 1 -55960 Simple 796943858 - . Pathogenic/Likely pathogenic 2 2 Unverricht-Lundborg syndrome;not provided 2016-01-27 8.100000000000001 2.0 Likely pathogenic 1 -56182 Simple 386833634 TT . Pathogenic/Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 1;Neuronal ceroid lipofuscinosis 2016-01-12 7.800000000000001 2.5 Likely pathogenic 1 -56202 Simple 148412181 A . Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 1;not provided 2017-01-30 5.7 1.5 Likely pathogenic 0 -56213 Simple 386833664 A . Pathogenic/Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 1;not provided 2017-01-31 9.0 1.0 Pathogenic/Likely pathogenic 0 -56303 Simple 386833751 - . Pathogenic/Likely pathogenic 2 2 Meckel syndrome type 6;Joubert syndrome 9 2016-05-17 10.8 2.0 Pathogenic/Likely pathogenic 0 -56309 Simple 386833757 TT . Pathogenic/Likely pathogenic 2 2 Meckel syndrome type 6;Joubert syndrome 9;not provided 2016-09-23 10.8 2.0 Pathogenic/Likely pathogenic 0 -56312 Simple 386833760 - . Pathogenic/Likely pathogenic 2 4 Meckel syndrome type 6;Joubert syndrome 9 2016-03-14 20.4 2.5 Pathogenic 1 -56384 Simple 11230683 T . Pathogenic/Likely pathogenic 2 2 Joubert syndrome 2;Meckel syndrome type 2 2015-02-23 6.9 3.5 Likely pathogenic 1 -56406 Simple 386833851 A . Pathogenic/Likely pathogenic 2 2 Baller-Gerold syndrome;Rapadilino syndrome;Rothmund-Thomson syndrome 2017-05-22 9.6 2.5 Pathogenic/Likely pathogenic 0 -56412 Simple 386833856 T . Likely pathogenic 2 2 GRACILE syndrome;not provided 2017-04-13 5.4 1.5 Likely pathogenic 0 -56453 Simple 386833895 A . Pathogenic/Likely pathogenic 2 2 Finnish congenital nephrotic syndrome 2016-06-14 8.4 2.0 Pathogenic/Likely pathogenic 0 -56509 Simple 386833947 - . Likely pathogenic 2 2 Finnish congenital nephrotic syndrome 2017-12-07 5.4 1.5 Likely pathogenic 0 -56536 Simple 386833972 G . Pathogenic/Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 5 2017-06-18 8.4 1.5 Pathogenic/Likely pathogenic 0 -56544 Simple 386833980 A . Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 5;not provided 2016-10-26 5.4 2.0 Likely pathogenic 0 -56582 Simple 138642840 T . Pathogenic/Likely pathogenic 2 7 Muscle eye brain disease;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not provided;POMGNT1-Related Disorders;Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 2016-08-25 40.8 1.2857142857142858 Pathogenic 1 -56604 Simple 386834034 A . Pathogenic/Likely pathogenic 2 2 Muscle eye brain disease;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not provided 2017-06-14 11.4 1.0 Pathogenic/Likely pathogenic 0 -56610 Simple 386834039 A . Pathogenic/Likely pathogenic 2 2 Muscle eye brain disease;not provided 2017-07-20 10.2 2.0 Pathogenic/Likely pathogenic 0 -56617 Simple 386834044 TGCCTGCC . Pathogenic/Likely pathogenic 2 2 Joubert syndrome;Meckel syndrome type 1;MKS1-Related Disorders 2016-06-14 8.4 1.5 Pathogenic/Likely pathogenic 0 -56629 Simple 386834055 AA . Pathogenic/Likely pathogenic 2 2 Cohen syndrome 2016-03-01 7.800000000000001 2.5 Likely pathogenic 1 -56655 Simple 386834078 A . Pathogenic/Likely pathogenic 2 2 Cohen syndrome;not provided 2016-05-05 8.4 2.0 Pathogenic/Likely pathogenic 0 -56683 Simple 180177366 A . Pathogenic/Likely pathogenic 2 3 Cohen syndrome;not provided 2017-07-27 17.4 0.6666666666666666 Pathogenic 1 -56694 Simple 386834113 T . Pathogenic/Likely pathogenic 2 2 Cohen syndrome;not provided 2017-10-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -56729 Simple 386834148 - . Pathogenic/Likely pathogenic 2 2 Meckel syndrome type 4;Joubert syndrome 5 2016-01-04 10.2 2.5 Pathogenic/Likely pathogenic 0 -56739 Simple 386834158 - . Pathogenic/Likely pathogenic 2 4 Leber congenital amaurosis 10;Meckel syndrome type 4;Joubert syndrome 5;Polycystic kidney dysplasia;Abnormality of the kidney;Retinal dystrophy;Cerebellar vermis hypoplasia;Agenesis of cerebellar vermis;Cerebellar cyst;Hyperechogenic kidneys 2016-02-12 20.400000000000002 2.5 Pathogenic 1 -56762 Simple 386834180 C . Pathogenic/Likely pathogenic 2 4 Bardet-Biedl syndrome;COACH syndrome;Joubert syndrome;Joubert syndrome 6;Meckel-Gruber syndrome;Meckel syndrome type 3;Bardet-Biedl syndrome 14;Nephronophthisis 11 2017-05-18 15.9 1.75 Pathogenic 1 -56783 Simple 386834202 - . Pathogenic/Likely pathogenic 2 4 Joubert syndrome 6;Meckel syndrome type 3;not provided;TMEM67-Related Disorders 2017-05-30 18.6 1.75 Pathogenic 1 -56908 Simple 397515333 A . Likely pathogenic 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2016-02-17 8.100000000000001 2.0 Likely pathogenic 0 -57051 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -57122 Simple . . . Uncertain significance 2 2 See cases 2011-08-12 -0.3 6.0 Uncertain significance 0 -57193 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -57427 Simple . . . Pathogenic 2 3 See cases 2011-08-12 9.0 6.0 Pathogenic/Likely pathogenic 1 -57444 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -59068 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -59321 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -60506 Simple 672601334 C . Pathogenic 2 4 Noonan syndrome;not provided;Noonan syndrome 8 2017-08-01 23.4 0.75 Pathogenic 0 -60509 Simple 672601335 G . Pathogenic 2 2 Noonan syndrome;not provided;Noonan syndrome 8 2017-01-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -60511 Simple 397509418 A . Pathogenic 2 3 not provided;Limb-girdle muscular dystrophy, type 2S 2017-12-07 18.0 0.3333333333333333 Pathogenic 0 -60543 Simple 397509425 A . Pathogenic/Likely pathogenic 2 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14;Muscular dystrophy-dystroglycanopathy 2017-05-23 7.2 2.0 Likely pathogenic 1 -60544 Simple 397509426 A . Pathogenic 2 2 not provided;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2017-05-04 10.8 1.5 Pathogenic/Likely pathogenic 1 -60546 Simple 142336618 G . Pathogenic 2 2 not provided;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2017-10-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -60547 Simple 199922550 T . Pathogenic/Likely pathogenic 2 2 not provided;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14;Muscular dystrophy-dystroglycanopathy 2017-10-05 6.0 0.5 Likely pathogenic 1 -60649 Simple 146779325 C . Uncertain significance, other 2 2 Malignant tumor of urinary bladder;Hereditary cancer-predisposing syndrome 2016-09-09 -0.6 1.0 Uncertain significance 0 -60763 Simple 397515453 T . Pathogenic 2 4 SHORT syndrome;not provided;Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 2017-05-18 21.6 1.75 Pathogenic 0 -60775 Simple 398122386 - . Pathogenic 2 2 not provided;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -64624 Simple 143697995 G . Pathogenic/Likely pathogenic 2 2 not provided;Combined oxidative phosphorylation deficiency 16 2014-05-05 7.199999999999999 3.0 Likely pathogenic 1 -64699 Simple 377076733 C . Benign/Likely benign 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -9.0 0.5 Benign/Likely benign 0 -64710 Simple 112384441 A . Benign/Likely benign 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -14.4 1.0 Benign/Likely benign 0 -64759 Simple 149439187 A . Likely benign 2 3 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -8.7 1.0 Benign/Likely benign 1 -64782 Simple 62621221 A . Benign/Likely benign 2 3 Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -64813 Simple 397514862 A . Pathogenic 2 2 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided 2017-05-23 12.0 0.5 Pathogenic/Likely pathogenic 1 -64843 Simple 397514880 A . Benign/Likely benign 2 4 Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -14.7 0.75 Benign/Likely benign 0 -64860 Simple 182849638 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -9.9 2.0 Benign/Likely benign 0 -64868 Simple 45490993 A . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-03-06 -6.0 0.5 Likely benign 0 -64885 Simple 397515297 T . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2015-12-28 10.8 2.0 Pathogenic/Likely pathogenic 1 -64887 Simple 397514912 A . Benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-07-25 -11.4 1.0 Benign/Likely benign 1 -64927 Simple 397514945 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -64938 Simple 375947241 T . Benign 2 1 Tuberous sclerosis syndrome;not specified 2013-03-01 . 5.0 . 0 -64946 Simple 200564575 T . Likely benign 2 1 Tuberous sclerosis syndrome;not specified 2017-06-08 . 0.0 . 0 -64976 Simple 142257684 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -12.0 0.3333333333333333 Benign/Likely benign 0 -64983 Simple 139779505 A . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-23 -17.7 0.75 Benign/Likely benign 0 -64991 Simple 201442542 T . Benign/Likely benign 2 5 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -22.5 1.2 Benign/Likely benign 0 -64997 Simple 397515306 C . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -12.0 0.3333333333333333 Benign/Likely benign 0 -65018 Simple 141285742 A . Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-18 -8.4 1.6666666666666667 Benign/Likely benign 1 -65021 Simple 397515011 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -12.0 0.3333333333333333 Benign/Likely benign 0 -65038 Simple 45517105 A . Pathogenic 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided 2017-08-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -65044 Simple 139630605 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -11.7 1.0 Benign/Likely benign 0 -65059 Simple 137854209 . . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2016-03-28 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -65065 Simple 397515046 A . Uncertain significance 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -65084 Simple 397515063 A . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -65110 Simple 115200071 T . Benign/Likely benign 2 6 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -27.6 1.6666666666666667 Benign 1 -65126 Simple 150397923 A . Benign/Likely benign 2 7 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-09 -32.1 1.7142857142857142 Benign 1 -65127 Simple 370820622 C . Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-04 -9.0 0.6666666666666666 Benign/Likely benign 1 -65136 Simple 397515103 A . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -6.0 0.0 Likely benign 0 -65137 Simple 397515104 G . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -11.7 0.6666666666666666 Benign/Likely benign 0 -65147 Simple 397515314 C . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-02-14 -5.7 1.5 Likely benign 0 -65148 Simple 374145104 T . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2016-07-01 -5.7 1.5 Likely benign 0 -65152 Simple 45444196 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -10.8 1.0 Benign/Likely benign 0 -65170 Simple 35896166 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -13.8 1.3333333333333333 Benign/Likely benign 0 -65195 Simple 397515145 A . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-07-17 -6.0 0.0 Likely benign 0 -65198 Simple 145033857 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -65216 Simple 201206500 A . Uncertain significance 2 2 Tuberous sclerosis 2;Autism spectrum disorders;Hereditary cancer-predisposing syndrome 2016-12-02 -0.6 1.0 Uncertain significance 0 -65229 Simple 397515167 A . Uncertain significance 2 2 Lymphangiomyomatosis;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-16 -0.54 2.0 Uncertain significance 0 -65231 Simple 45517126 A . Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-08 -9.0 0.6666666666666666 Benign/Likely benign 1 -65244 Simple 372045362 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified 2017-07-10 -13.8 1.3333333333333333 Benign/Likely benign 0 -65303 Simple 144997264 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 -8.7 1.0 Benign/Likely benign 0 -65332 Simple 370114027 C . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-02-13 -0.6 1.0 Uncertain significance 0 -65379 Simple 397515285 G . Uncertain significance 2 2 Tuberous sclerosis 2;Autism spectrum disorders;Hereditary cancer-predisposing syndrome 2017-08-08 -0.5700000000000001 1.0 Uncertain significance 0 -65382 Simple 149543046 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -13.2 2.0 Benign/Likely benign 0 -65383 Simple 397515288 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -12.0 0.6666666666666666 Benign/Likely benign 0 -65417 Simple 373740199 T . Pathogenic 2 2 Dyskeratosis congenita;not provided;Dyskeratosis congenita, autosomal dominant, 4 2016-09-26 12.0 1.0 Pathogenic/Likely pathogenic 1 -65449 Simple 112901682 A . Pathogenic/Likely pathogenic 2 2 Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection;not provided 2017-05-22 9.0 0.0 Pathogenic/Likely pathogenic 0 -65477 Simple 397515330 A . Pathogenic 2 4 Thoracic aortic aneurysm and aortic dissection;not provided;Aortic aneurysm, familial thoracic 8 2017-05-17 22.2 1.25 Pathogenic 0 -65500 Simple 182881 T . Benign 2 1 Holoprosencephaly 2;not specified 2017-01-31 . 1.0 . 0 -65505 Simple 78018362 T . Benign 2 1 Holoprosencephaly 2;not specified 2017-07-06 . 0.0 . 0 -65558 Simple 121908077 - . Pathogenic/Likely pathogenic 2 3 Achondrogenesis, type IB;Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;not provided 2016-09-15 13.2 2.3333333333333335 Pathogenic/Likely pathogenic 0 -65559 Simple 78676079 T . Benign/Likely benign 2 10 Achondrogenesis, type IB;Atelosteogenesis type 2;Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;Achondrogenesis;Osteochondrodysplasia;not specified;Atelosteogenesis 2017-07-10 -39.6 1.4 Benign 1 -65560 Simple 3776070 T . Benign 2 7 Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;Achondrogenesis;Osteochondrodysplasia;not specified;Atelosteogenesis 2016-06-14 -40.8 1.2857142857142858 Benign 0 -65562 Simple 397515514 T . Pathogenic 2 2 Thanatophoric dysplasia type 1;not provided;Craniosynostosis 2017-08-11 12.0 0.0 Pathogenic/Likely pathogenic 1 -65634 Simple 12926089 T . Benign/Likely benign 2 2 Osteopetrosis autosomal recessive 4;not specified;Osteopetrosis 2016-06-22 -9.0 1.0 Benign/Likely benign 0 -65644 Simple 80356779 A . Pathogenic 2 3 Carnitine palmitoyltransferase I deficiency;Carnitine palmitoyl transferase 1 deficiency;not provided 2017-09-05 16.8 1.0 Pathogenic 0 -65723 Simple 1129767 A . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -65724 Simple 1129768 C . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -65725 Simple 45450992 T . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 0 -65738 Simple 3812497 C . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -65758 Simple 587778771 CC . Pathogenic 2 7 Dystonia 10;Infantile convulsions and paroxysmal choreoathetosis, familial;Seizures;not provided 2017-07-28 37.2 2.0 Pathogenic 0 -65770 Simple 386834234 T . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease 2016-07-18 7.8 2.0 Likely pathogenic 1 -65771 Simple 386834233 A . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease 2015-11-13 8.100000000000001 2.0 Likely pathogenic 1 -65787 Simple 397515591 A . Pathogenic 2 2 Deafness, autosomal recessive 9;Nonsyndromic hearing loss and deafness;not provided 2016-03-31 11.4 1.5 Pathogenic/Likely pathogenic 1 -65870 Simple 692003 A . Benign/Likely benign 2 2 Cholestanol storage disease;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -65877 Simple 9333633 T . Benign/Likely benign 2 1 Holoprosencephaly 3;not specified 2014-09-17 . 3.0 . 0 -65884 Simple 9333634 A . Benign 2 3 Holoprosencephaly 3;not specified 2017-05-10 -16.8 1.3333333333333333 Benign/Likely benign 1 -65897 Simple 587778809 T . Pathogenic 2 2 Ceroid lipofuscinosis neuronal 7;not provided;Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 10.2 2.5 Pathogenic/Likely pathogenic 1 -65979 Simple 118192124 T . Pathogenic 2 3 Central core disease;not provided;RYR1-Related Disorders 2017-08-22 17.4 1.0 Pathogenic 0 -65981 Simple 118192178 T . Pathogenic/Likely pathogenic 2 3 Central core disease;Malignant hyperthermia, susceptibility to, 1;not provided;RYR1-Related Disorders 2016-12-02 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -65986 Simple 118192181 T . Pathogenic 2 2 Central core disease;not provided 2016-11-21 12.0 1.0 Pathogenic/Likely pathogenic 1 -65988 Simple 118192151 A . Pathogenic/Likely pathogenic 2 2 Central core disease;not provided 2017-01-06 8.7 1.5 Pathogenic/Likely pathogenic 0 -65996 Simple 118192140 T . Pathogenic/Likely pathogenic 2 2 Central core disease;Minicore myopathy with external ophthalmoplegia;not provided;RYR1-Related Disorders 2016-10-29 7.2 2.5 Likely pathogenic 1 -66086 Simple 398122394 G . Pathogenic 2 3 Epileptic encephalopathy, early infantile, 36;not provided 2017-07-13 16.8 1.3333333333333333 Pathogenic 0 -66092 Simple 398123060 G . Pathogenic/Likely pathogenic 2 2 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-11-16 9.0 0.0 Pathogenic/Likely pathogenic 0 -66093 Simple 398123061 A . Pathogenic/Likely pathogenic 2 3 Mitochondrial encephalomyopathy;not provided;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);Global developmental delay;Mitochondrial encephalomyopathy 2017-08-10 11.4 1.0 Pathogenic/Likely pathogenic 0 -66102 Simple 397515498 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -66104 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -66105 Simple . . . Pathogenic 3 1 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 . 0.0 . 0 -66115 Simple 587777057 A . Pathogenic 2 3 not provided;Early infantile epileptic encephalopathy 17;Early infantile epileptic encephalopathy 2017-11-08 18.0 0.3333333333333333 Pathogenic 0 -66198 Simple 4761924 G . Benign 2 1 Epidermolysis bullosa simplex;not specified;not provided 2016-06-14 . 1.0 . 0 -66223 Simple 11549950 C . Benign 2 1 Epidermolysis bullosa simplex;not specified;not provided 2016-06-14 . 1.0 . 0 -66224 Simple 11549949 T . Benign 2 1 Epidermolysis bullosa simplex;not specified;not provided 2016-06-14 . 1.0 . 0 -66234 Simple 11170164 T . Benign 2 1 Epidermolysis bullosa simplex;not specified;not provided 2016-06-14 . 1.0 . 0 -66264 Simple 638907 A . Benign 2 1 Epidermolysis bullosa simplex;not specified;not provided 2016-06-14 . 1.0 . 0 -66275 Simple 641615 T . Benign 2 1 Epidermolysis bullosa simplex;not specified;not provided 2016-06-14 . 1.0 . 0 -66277 Simple 641621 T . Benign 2 1 Epidermolysis bullosa simplex;not specified;not provided 2016-06-14 . 1.0 . 0 -66282 Simple 17852231 G . Benign 2 1 Epidermolysis bullosa simplex;not specified;not provided 2016-06-14 . 1.0 . 0 -66283 Simple 1132948 T . Benign 2 1 Epidermolysis bullosa simplex;not specified;not provided 2016-06-14 . 1.0 . 0 -66401 Simple 267607488 T . Uncertain significance 2 2 not specified;not provided 2016-09-02 -0.5700000000000001 1.5 Uncertain significance 0 -66402 Simple 267607490 T . Pathogenic/Likely pathogenic 2 8 Dilated cardiomyopathy 1I;Myofibrillar myopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Dilated cardiomyopathy 2017-07-27 30.900000000000002 1.625 Pathogenic 1 -66411 Simple 267607499 G . Likely pathogenic 2 2 Myofibrillar myopathy 1;not provided 2017-03-16 5.4 1.5 Likely pathogenic 0 -66412 Simple 267607495 T . Likely pathogenic 2 2 Myofibrillar myopathy 1;not provided 2016-06-30 4.5 4.0 Likely pathogenic 0 -66419 Simple 267607483 G . Pathogenic 2 2 Myofibrillar myopathy;not provided 2017-10-19 10.8 1.5 Pathogenic/Likely pathogenic 1 -66457 Simple 57474185 A . Likely benign 2 3 Alexander's disease;not provided;Inborn genetic diseases 2016-12-29 -8.1 2.0 Likely benign 0 -66512 Simple 60045579 G . Benign/Likely benign 2 2 Alexander's disease;not specified;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -66671 Simple 62636503 T . Pathogenic 2 2 Charcot-Marie-Tooth disease type 2E;not provided 2017-08-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -66676 Simple 57153321 T . Likely benign 2 3 Charcot-Marie-Tooth disease type 2E;not specified;not provided;Charcot-Marie-Tooth, Type 1 2017-07-03 -9.0 0.3333333333333333 Benign/Likely benign 1 -66681 Simple 3832558 - . Benign 2 2 Charcot-Marie-Tooth disease type 2E;not specified;not provided 2017-07-10 -12.0 0.5 Benign/Likely benign 1 -66686 Simple 58907919 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease type 2E;not provided;Charcot-Marie-Tooth, Type 1 2016-09-23 -9.0 1.0 Benign/Likely benign 0 -66695 Simple 62636522 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease type 2E;not specified;not provided 2017-07-04 -9.0 0.0 Benign/Likely benign 0 -66696 Simple 60156239 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease type 2E;not specified;not provided;Charcot-Marie-Tooth, Type 1 2017-07-31 -14.4 1.0 Benign/Likely benign 0 -66762 Simple 267607555 T . Pathogenic 2 2 Familial partial lipodystrophy 2;not provided 2015-08-17 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -66786 Simple 141879453 T . Benign 2 3 Charcot-Marie-Tooth disease, type 2;not specified;not provided 2017-05-30 -17.4 1.0 Benign/Likely benign 1 -66791 Simple 57983345 G . Pathogenic 2 3 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided 2017-05-12 18.0 0.3333333333333333 Pathogenic 0 -66794 Simple 267607563 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified;not provided 2017-08-24 -0.6 0.0 Uncertain significance 0 -66797 Simple 267607606 A . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type 2;not specified;not provided 2017-06-19 -0.87 0.6666666666666666 Uncertain significance 0 -66800 Simple 267607618 T . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided 2016-12-07 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -66801 Simple 61217436 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified;not provided 2016-02-08 -6.300000000000001 3.5 Likely benign 1 -66849 Simple 57629361 A . Pathogenic/Likely pathogenic 2 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Mandibuloacral dysostosis;not provided 2015-06-26 6.9 3.0 Likely pathogenic 1 -66850 Simple 57629361 G . Pathogenic/Likely pathogenic 2 3 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Familial partial lipodystrophy 2;Charcot-Marie-Tooth disease, type 2;not provided 2017-03-21 12.6 2.6666666666666665 Pathogenic/Likely pathogenic 0 -66856 Simple 267607581 G . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1A;Limb-girdle muscular dystrophy;not provided 2013-03-08 5.7 4.5 Likely pathogenic 1 -66862 Simple 267607613 T . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified;not provided 2016-10-20 -0.5700000000000001 1.5 Uncertain significance 0 -66882 Simple 59270054 A . Pathogenic 2 3 Primary dilated cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided 2017-03-25 15.600000000000001 2.0 Pathogenic 0 -66888 Simple 57077886 T . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1A;Familial partial lipodystrophy 2;not provided 2016-02-18 5.4 2.0 Likely pathogenic 1 -66901 Simple 267607570 C . Pathogenic/Likely pathogenic 2 3 Dilated cardiomyopathy 1A;Charcot-Marie-Tooth disease, type 2;not provided 2017-07-03 13.8 2.0 Pathogenic/Likely pathogenic 0 -66908 Simple 59026483 T . Pathogenic 2 3 Dilated cardiomyopathy 1A;Dilated cardiomyopathy 1S;Charcot-Marie-Tooth disease, type 2;not provided 2017-05-16 17.4 1.0 Pathogenic 0 -66931 Simple 59332535 A . Pathogenic 2 4 Dilated cardiomyopathy 1A;Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Charcot-Marie-Tooth disease, type 2;Muscular dystrophy;not provided 2017-06-29 20.400000000000002 2.25 Pathogenic 0 -66955 Simple 59684335 - . Pathogenic 2 3 Dilated cardiomyopathy 1A;Dilated cardiomyopathy 1S;Charcot-Marie-Tooth disease, type 2;not provided 2017-06-29 15.6 2.0 Pathogenic 0 -66960 Simple 60872029 - . Pathogenic 2 3 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Limb-girdle muscular dystrophy, type 1B;Charcot-Marie-Tooth disease, type 2;not provided 2016-12-28 16.8 1.6666666666666667 Pathogenic 0 -66985 Simple 397515486 A . Pathogenic 2 2 Mental retardation 3, X-linked;not provided;Intellectual disability 2015-12-23 10.2 2.5 Pathogenic/Likely pathogenic 1 -66990 Simple 151107532 G . Pathogenic 2 2 Kartagener syndrome;Primary ciliary dyskinesia;Primary ciliary dyskinesia 24 2017-07-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -66994 Simple 397515340 - . Pathogenic 2 2 Ciliary dyskinesia, primary, 12;Kartagener syndrome;Primary ciliary dyskinesia;not provided 2016-12-22 11.4 1.5 Pathogenic/Likely pathogenic 1 -67024 Simple 199473475 T . Uncertain significance 2 2 Long QT syndrome;not specified;not provided 2016-11-18 -0.5700000000000001 1.5 Uncertain significance 0 -67026 Simple 12720449 G . Benign/Likely benign 2 7 Long QT syndrome;not specified;not provided;Cardiovascular phenotype 2017-08-08 -28.5 2.0 Benign 1 -67030 Simple 145229963 A . Uncertain significance 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2017-06-14 -2.4 0.875 Uncertain significance 0 -67042 Simple 199472794 A . Conflicting interpretations of pathogenicity 1 3 Long QT syndrome 1;Long QT syndrome;not specified;Congenital long QT syndrome 2017-03-14 2.43 1.0 Uncertain significance 0 -67043 Simple 199472796 A . Uncertain significance 2 2 not specified;Congenital long QT syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -67047 Simple 199472801 G . Pathogenic/Likely pathogenic 2 2 not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-04-26 8.7 1.0 Pathogenic/Likely pathogenic 0 -67053 Simple 199473482 A . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2017-04-07 -0.6 0.5 Uncertain significance 0 -67057 Simple 34516117 T . Uncertain significance 2 3 Long QT syndrome;not specified;Congenital long QT syndrome;Cardiovascular phenotype 2016-12-05 -0.81 2.0 Uncertain significance 0 -67061 Simple 199472820 A . Uncertain significance 2 2 Long QT syndrome;not specified;not provided 2017-03-22 -0.6 0.5 Uncertain significance 0 -67062 Simple 199473484 A . Uncertain significance 2 2 not specified;Congenital long QT syndrome 2016-10-20 -0.6 1.0 Uncertain significance 0 -67072 Simple 199472687 A . Pathogenic/Likely pathogenic 2 2 Short QT syndrome 2;Long QT syndrome;not provided;Atrial fibrillation 2017-07-31 9.0 0.5 Pathogenic/Likely pathogenic 0 -67075 Simple 143709408 T . Uncertain significance 2 3 Long QT syndrome;not specified;not provided 2017-08-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -67077 Simple 199472692 A . Uncertain significance 2 3 Long QT syndrome;not specified;Congenital long QT syndrome 2017-01-03 -0.8999999999999999 1.0 Uncertain significance 0 -67087 Simple 150172393 T . Uncertain significance 2 2 Long QT syndrome;Congenital long QT syndrome 2015-03-05 -0.51 2.5 Uncertain significance 0 -67099 Simple 199472712 T . Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-05-15 6.0 0.5 Likely pathogenic 0 -67107 Simple 199472725 G . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2017-05-17 -0.6 0.5 Uncertain significance 0 -67116 Simple 199472736 A . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2017-11-08 -0.6 0.0 Uncertain significance 0 -67208 Simple 199472912 T . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2016-12-28 12.0 1.0 Pathogenic/Likely pathogenic 1 -67220 Simple 199472916 A . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-01-19 12.0 1.0 Pathogenic/Likely pathogenic 1 -67225 Simple 199472918 G . Pathogenic 2 4 Long QT syndrome 2;Long QT syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-08-09 22.8 1.25 Pathogenic 0 -67261 Simple 199473428 T . Pathogenic 2 2 Short QT syndrome 1;Long QT syndrome 2;Long QT syndrome;not provided;Congenital long QT syndrome 2017-01-23 12.0 1.0 Pathogenic/Likely pathogenic 1 -67277 Simple 199472934 C . Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2015-11-18 5.4 2.0 Likely pathogenic 0 -67279 Simple 199472936 T . Pathogenic 2 2 Long QT syndrome 2;Long QT syndrome;Congenital long QT syndrome 2017-02-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -67281 Simple 199473522 T . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2016-12-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -67286 Simple 199472941 T . Pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-03-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -67292 Simple 199473524 A . Pathogenic/Likely pathogenic 2 3 Long QT syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-03-28 16.8 1.3333333333333333 Pathogenic 1 -67295 Simple 199472946 C . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2016-07-12 8.4 2.0 Pathogenic/Likely pathogenic 0 -67314 Simple 199472957 G . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2016-07-31 8.4 1.5 Pathogenic/Likely pathogenic 0 -67363 Simple 199473419 C . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-06-30 9.0 0.0 Pathogenic/Likely pathogenic 0 -67385 Simple 199472995 A . Pathogenic/Likely pathogenic 2 2 Long QT syndrome 2;not provided;Congenital long QT syndrome 2017-05-10 8.4 1.0 Pathogenic/Likely pathogenic 0 -67397 Simple 199472999 C . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2016-12-25 7.2 2.5 Likely pathogenic 1 -67407 Simple 199473004 C . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2017-01-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -67419 Simple 41314354 T . Likely benign 2 2 Long QT syndrome;Brugada syndrome;not provided 2017-06-30 -5.1 2.0 Likely benign 0 -67427 Simple 1805123 G . Benign/Likely benign 2 4 Atrial fibrillation;Long QT syndrome;not specified;not provided;Cardiovascular phenotype 2016-06-14 -18.6 2.0 Benign/Likely benign 0 -67428 Simple 199473669 T . Uncertain significance 2 3 Long QT syndrome;not specified;Congenital long QT syndrome 2017-04-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -67429 Simple 199473435 A . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2016-06-23 -0.6 1.0 Uncertain significance 0 -67438 Simple 199473009 G . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -67443 Simple 199473011 T . Pathogenic/Likely pathogenic 2 2 Long QT syndrome 2;not provided;Congenital long QT syndrome 2017-12-09 6.0 3.0 Likely pathogenic 1 -67453 Simple 141117135 T . Likely benign 2 2 Long QT syndrome;not specified;not provided 2017-03-24 -6.0 0.5 Likely benign 0 -67471 Simple 199473544 T . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2016-12-16 -0.6 1.0 Uncertain significance 0 -67480 Simple 151031345 C . Likely benign 2 2 Long QT syndrome;not provided 2015-03-11 -5.1 2.5 Likely benign 0 -67508 Simple 199472866 T . Uncertain significance 2 2 Long QT syndrome 2;Long QT syndrome;Congenital long QT syndrome 2017-06-22 -0.5700000000000001 1.0 Uncertain significance 0 -67527 Simple 199472876 T . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2017-03-07 -0.6 0.5 Uncertain significance 0 -67535 Simple 199472880 T . Uncertain significance 2 2 Long QT syndrome 2;Long QT syndrome;Congenital long QT syndrome 2016-12-24 -0.5700000000000001 1.5 Uncertain significance 0 -67544 Simple 199472884 A . Likely pathogenic 2 2 Long QT syndrome;not provided;Congenital long QT syndrome 2016-06-10 6.0 1.0 Likely pathogenic 0 -67555 Simple 182208896 A . Benign/Likely benign 2 4 Long QT syndrome;Brugada syndrome;not specified;not provided;Brugada syndrome (shorter-than-normal QT interval) 2017-06-19 -15.0 0.75 Benign/Likely benign 0 -67557 Simple 199473392 A . Uncertain significance 2 2 Brugada syndrome;not specified;not provided 2015-06-16 -0.48 3.0 Uncertain significance 0 -67569 Simple 199473653 A . Pathogenic 2 2 Andersen Tawil syndrome;Congenital long QT syndrome 2017-07-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -67585 Simple 199473384 A . Pathogenic 2 3 Andersen Tawil syndrome;not provided;Congenital long QT syndrome 2017-06-22 18.0 0.6666666666666666 Pathogenic 0 -67597 Simple 45570339 G . Benign/Likely benign 2 3 Long QT syndrome;not specified;Congenital long QT syndrome 2017-05-30 -13.2 1.3333333333333333 Benign/Likely benign 0 -67599 Simple 66785829 A . Benign/Likely benign 2 3 Cardiac arrhythmia;Long QT syndrome;not specified;Arrhythmia 2017-07-18 -8.1 3.3333333333333335 Likely benign 1 -67615 Simple 2234916 G . Benign 2 4 Long QT syndrome 6;not specified;not provided;Long QT syndrome, drug-associated;Cardiovascular phenotype 2017-08-06 -18.6 3.0 Benign/Likely benign 1 -67633 Simple 199473097 A . Pathogenic/Likely pathogenic 2 2 Brugada syndrome;not provided;Congenital long QT syndrome 2017-06-14 9.0 0.0 Pathogenic/Likely pathogenic 0 -67651 Simple 72549410 T . Pathogenic 2 3 Long QT syndrome 3;Long QT syndrome;Brugada syndrome;not provided;Congenital long QT syndrome 2017-06-13 15.6 2.0 Pathogenic 0 -67657 Simple 199473113 C . Uncertain significance 2 3 Brugada syndrome;not specified;not provided 2017-08-04 -0.78 2.0 Uncertain significance 0 -67658 Simple 199473571 C . Uncertain significance 2 2 Brugada syndrome;not specified;not provided 2017-08-31 -0.6 0.5 Uncertain significance 0 -67659 Simple 41313697 C . Benign 2 5 Sudden cardiac death;Brugada syndrome;not specified;not provided;Cardiovascular phenotype 2017-07-28 -26.400000000000002 2.0 Benign 0 -67661 Simple 199473114 G . Uncertain significance 2 2 not specified;Congenital long QT syndrome 2017-04-05 -0.54 1.5 Uncertain significance 0 -67682 Simple 184442491 A . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2016-03-31 -0.54 2.0 Uncertain significance 0 -67683 Simple 36210423 T . Benign/Likely benign 2 12 Paroxysmal familial ventricular fibrillation 1;Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;not provided;Congenital long QT syndrome;Sick sinus syndrome;Cardiac arrest;Left ventricular noncompaction cardiomyopathy;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-08-03 -44.1 1.0833333333333333 Benign 1 -67686 Simple 199473128 T . Uncertain significance 2 2 Brugada syndrome;not specified;not provided 2016-11-27 -0.6 1.0 Uncertain significance 0 -67692 Simple 45488304 A . Benign/Likely benign 2 3 Brugada syndrome;not specified;not provided;Long QT syndrome, drug-associated 2017-07-31 -11.4 1.3333333333333333 Benign/Likely benign 0 -67723 Simple 199473153 T . Pathogenic/Likely pathogenic 2 3 Brugada syndrome;not provided;Cardiovascular phenotype 2017-09-25 14.7 0.6666666666666666 Pathogenic/Likely pathogenic 0 -67731 Simple 199473161 A . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Brugada syndrome;not provided;Dilated cardiomyopathy 2017-07-06 14.7 1.0 Pathogenic/Likely pathogenic 0 -67734 Simple 45475899 T . Uncertain significance 2 3 Long QT syndrome 3;Long QT syndrome;Brugada syndrome;not specified;not provided 2017-09-25 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -67740 Simple 199473166 A . Uncertain significance 2 3 Brugada syndrome;not specified;Congenital long QT syndrome 2016-06-23 -0.8999999999999999 1.0 Uncertain significance 0 -67769 Simple 199473182 G . Uncertain significance 2 4 Sudden cardiac death;Brugada syndrome;not specified 2017-07-21 -1.08 1.75 Uncertain significance 0 -67772 Simple 199473183 G . Uncertain significance 2 2 not specified;Congenital long QT syndrome 2017-03-31 -0.51 2.0 Uncertain significance 0 -67780 Simple 199473554 T . Pathogenic 2 2 Brugada syndrome;not provided 2016-05-22 10.8 2.0 Pathogenic/Likely pathogenic 1 -67782 Simple 199473187 A . Uncertain significance 2 2 Brugada syndrome;not specified;Congenital long QT syndrome 2016-12-20 -0.6 1.0 Uncertain significance 0 -67789 Simple 199473192 A . Uncertain significance 2 2 Long QT syndrome;Brugada syndrome;not specified;Congenital long QT syndrome 2017-06-23 -0.6 0.5 Uncertain significance 0 -67795 Simple 199473197 A . Uncertain significance 2 2 Brugada syndrome;not specified;Atrial fibrillation 2016-12-19 -0.6 1.0 Uncertain significance 0 -67801 Simple 41310765 A . Uncertain significance 2 2 Brugada syndrome;not specified;not provided 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -67807 Simple 199473556 A . Pathogenic/Likely pathogenic 2 2 Brugada syndrome 1;Brugada syndrome;not provided 2017-05-24 9.0 0.5 Pathogenic/Likely pathogenic 0 -67820 Simple 199473599 T . Uncertain significance 2 2 Brugada syndrome;not specified 2016-08-22 -0.6 1.0 Uncertain significance 0 -67836 Simple 41313031 A . Benign/Likely benign 2 3 Brugada syndrome;not specified;not provided;Brugada syndrome, lidocaine-induced;Cardiovascular phenotype 2017-07-31 -16.2 1.6666666666666667 Benign/Likely benign 0 -67838 Simple 199473220 A . Likely pathogenic 2 3 Brugada syndrome;not provided;Cardiovascular phenotype 2017-02-24 8.4 1.6666666666666667 Pathogenic/Likely pathogenic 1 -67844 Simple 199473225 A . Pathogenic 2 2 Brugada syndrome;not provided 2016-06-11 10.8 2.0 Pathogenic/Likely pathogenic 1 -67849 Simple 199473605 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-01-26 -0.6 1.0 Uncertain significance 0 -67882 Simple 199473250 G . Uncertain significance 2 2 Brugada syndrome;not specified;Cardiovascular phenotype 2015-08-19 -0.51 2.5 Uncertain significance 0 -67920 Simple 45514691 A . Uncertain significance 2 2 Brugada syndrome;not specified 2016-05-14 -0.51 2.5 Uncertain significance 0 -67924 Simple 199473278 T . Uncertain significance 2 4 Brugada syndrome;not specified;Congenital long QT syndrome;Cardiovascular phenotype 2017-09-01 -1.2 0.25 Uncertain significance 0 -67934 Simple 199473283 T . Pathogenic/Likely pathogenic 2 2 not provided;Congenital long QT syndrome;Cardiovascular phenotype 2017-01-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -67967 Simple 199473305 T . Pathogenic 2 2 Brugada syndrome;not provided 2017-04-24 12.0 0.0 Pathogenic/Likely pathogenic 1 -67980 Simple 199473311 C . Pathogenic 2 2 Brugada syndrome;not provided;Congenital long QT syndrome 2017-03-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -67985 Simple 199473634 A . Uncertain significance 2 2 Long QT syndrome;Brugada syndrome;not specified;Congenital long QT syndrome 2017-04-24 -0.6 0.5 Uncertain significance 0 -68003 Simple 45465995 A . Uncertain significance 2 2 Long QT syndrome;Brugada syndrome;not specified;not provided 2017-04-26 -0.5700000000000001 1.0 Uncertain significance 0 -68018 Simple 199473333 C . Uncertain significance 2 4 Brugada syndrome;not specified;not provided 2017-05-30 -1.02 2.0 Uncertain significance 0 -68020 Simple 145009013 C . Likely benign 2 2 Brugada syndrome;not specified;not provided 2017-06-22 -6.0 0.5 Likely benign 0 -68021 Simple 199473336 T . Uncertain significance 2 2 Brugada syndrome;not specified;not provided 2016-03-31 -0.51 2.5 Uncertain significance 0 -68024 Simple 45489199 C . Likely benign 2 5 Brugada syndrome;not specified;not provided;Cardiovascular phenotype 2017-10-18 -14.4 0.8 Benign/Likely benign 1 -68027 Simple 199473640 A . Uncertain significance 2 2 Long QT syndrome 3;Brugada syndrome;Congenital long QT syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -68039 Simple 199473076 T . Uncertain significance 2 3 Brugada syndrome;not specified;Arrhythmia;Congenital long QT syndrome 2017-06-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -68047 Simple 199473082 A . Likely pathogenic 2 2 Brugada syndrome 1;Brugada syndrome;not provided 2017-02-14 5.7 1.5 Likely pathogenic 0 -68051 Simple 36210420 G . Uncertain significance 2 2 Brugada syndrome;not specified;Torsades de pointes 2017-07-13 -0.6 0.5 Uncertain significance 0 -68058 Simple 199473564 G . Uncertain significance 2 3 Brugada syndrome;not specified 2016-06-16 -0.81 2.0 Uncertain significance 0 -68100 Simple 137853966 - . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2017-05-20 12.0 0.5 Pathogenic/Likely pathogenic 0 -68102 Simple 137853962 T . Likely benign 2 3 Familial hypercholesterolemia;not provided 2016-03-25 -8.4 1.6666666666666667 Benign/Likely benign 1 -68103 Simple 137853965 CC . Pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-11-04 12.0 1.0 Pathogenic/Likely pathogenic 1 -68154 Simple 199476349 T . Pathogenic/Likely pathogenic 2 3 Metachromatic leukodystrophy;not provided 2016-08-09 9.6 2.3333333333333335 Pathogenic/Likely pathogenic 0 -68218 Simple 179363889 T . Pathogenic/Likely pathogenic 2 2 Polyglandular autoimmune syndrome, type 1;not provided 2016-02-25 8.100000000000001 2.0 Likely pathogenic 1 -68222 Simple 179363882 G . Pathogenic 2 2 Polyglandular autoimmune syndrome, type 1;not provided 2015-12-19 10.2 2.5 Pathogenic/Likely pathogenic 1 -68243 Simple 141970914 A . Likely benign 2 1 not specified;not provided 2016-10-25 . 1.0 . 0 -68308 Simple 199474738 A . Pathogenic 2 4 Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-19 23.4 0.75 Pathogenic 0 -68312 Simple 199474762 C . Pathogenic/Likely pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-28 11.7 1.0 Pathogenic/Likely pathogenic 0 -68313 Simple 199474777 A . Uncertain significance 2 2 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -68316 Simple 199474746 A . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-03-10 9.0 0.5 Pathogenic/Likely pathogenic 0 -68323 Simple 199474747 C . Pathogenic/Likely pathogenic 2 4 Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-14 14.7 0.75 Pathogenic/Likely pathogenic 0 -68325 Simple 199474739 T . Uncertain significance 2 2 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.0 Uncertain significance 0 -68330 Simple 199474740 G . Uncertain significance 2 3 Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-06 -0.8999999999999999 0.0 Uncertain significance 0 -68341 Simple 137854556 A . Pathogenic 2 3 Neurofibromatosis, type 1;not provided 2017-10-04 17.4 1.0 Pathogenic 0 -68351 Simple 199474743 G . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -68354 Simple 199474766 G . Uncertain significance 2 2 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-20 -0.5700000000000001 1.0 Uncertain significance 0 -68357 Simple 199474791 C . Likely pathogenic 2 2 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-03 5.4 1.5 Likely pathogenic 0 -68363 Simple 199474793 G . Uncertain significance 2 2 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-03-31 -0.54 1.5 Uncertain significance 0 -68420 Simple 41276886 T . Benign/Likely benign 2 5 Episodic ataxia type 2;not specified;not provided;Epileptic encephalopathy, early infantile, 42 2017-08-11 -25.8 1.2 Benign 1 -68426 Simple 16022 G . Benign/Likely benign 2 3 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified;not provided 2017-04-30 -16.2 1.6666666666666667 Benign/Likely benign 0 -68427 Simple 16023 A . Benign/Likely benign 2 3 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified;not provided 2017-04-30 -16.2 1.6666666666666667 Benign/Likely benign 0 -68428 Simple 16027 T . Benign/Likely benign 2 3 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified;not provided 2017-04-30 -17.4 1.0 Benign/Likely benign 0 -68432 Simple 121908247 T . Pathogenic/Likely pathogenic 2 3 Spinocerebellar ataxia 6;not provided;Global developmental delay;Enlarged cisterna magna;Chronic and progressive ataxia 2017-06-16 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -68440 Simple 121908235 A . Uncertain significance 2 2 Episodic ataxia type 2;not specified 2017-10-06 -0.6 0.0 Uncertain significance 0 -68466 Simple 587778873 GGTGGCATGAGGTGGCATGA . Pathogenic 2 3 Glaucoma, congenital;Irido-corneo-trabecular dysgenesis;not provided 2017-04-20 16.8 1.3333333333333333 Pathogenic 0 -68502 Simple 121917957 T . Pathogenic/Likely pathogenic 2 2 Generalized epilepsy with febrile seizures plus, type 1;Severe myoclonic epilepsy in infancy;not provided 2017-01-16 7.8 2.0 Likely pathogenic 1 -68505 Simple 121917929 A . Pathogenic 2 4 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided;Early infantile epileptic encephalopathy 2017-08-11 21.6 1.75 Pathogenic 0 -68506 Simple 121917927 T . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided 2017-06-14 15.6 2.0 Pathogenic 0 -68523 Simple 121917971 T . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided;Early infantile epileptic encephalopathy 2017-07-17 17.4 1.0 Pathogenic 0 -68527 Simple 121917965 A . Pathogenic 2 4 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Early infantile epileptic encephalopathy 2017-03-28 22.8 1.25 Pathogenic 0 -68528 Simple 121917918 T . Pathogenic 2 5 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided;Early infantile epileptic encephalopathy 2017-03-28 27.6 1.6 Pathogenic 0 -68532 Simple 121917973 G . Uncertain significance 2 3 Severe myoclonic epilepsy in infancy;not specified;Early infantile epileptic encephalopathy 2017-03-09 -0.84 1.3333333333333333 Uncertain significance 0 -68537 Simple 121917986 T . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2016-08-04 10.8 2.0 Pathogenic/Likely pathogenic 1 -68553 Simple 121917993 A . Pathogenic 2 2 not provided;Focal epilepsy 2016-09-29 12.0 1.0 Pathogenic/Likely pathogenic 1 -68557 Simple 121917995 T . Pathogenic/Likely pathogenic 2 3 Severe myoclonic epilepsy in infancy;Epileptic encephalopathy Lennox-Gastaut type;Generalized epilepsy with febrile seizures plus, type 2;Early infantile epileptic encephalopathy 2016-05-27 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -68558 Simple 121917976 T . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2016-11-16 9.6 3.0 Pathogenic/Likely pathogenic 1 -68570 Simple 121917980 T . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2017-08-17 10.8 1.5 Pathogenic/Likely pathogenic 1 -68571 Simple 121917921 A . Pathogenic 2 4 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided 2016-06-02 21.6 2.0 Pathogenic 0 -68578 Simple 121917984 A . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided;Early infantile epileptic encephalopathy 2017-07-24 12.0 0.0 Pathogenic/Likely pathogenic 1 -68579 Simple 121917937 C . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided 2016-04-04 16.2 2.0 Pathogenic 0 -68589 Simple 121918769 T . Benign/Likely benign 2 6 Severe myoclonic epilepsy in infancy;Familial hemiplegic migraine;Seizure Disorders;not specified;not provided;Early infantile epileptic encephalopathy 2017-05-11 -21.6 1.3333333333333333 Benign/Likely benign 0 -68596 Simple 121918733 G . Pathogenic/Likely pathogenic 2 3 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 2015-07-15 10.2 2.3333333333333335 Pathogenic/Likely pathogenic 0 -68598 Simple 121918788 A . Pathogenic/Likely pathogenic 2 3 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided 2017-02-01 10.8 2.3333333333333335 Pathogenic/Likely pathogenic 0 -68604 Simple 121918775 A . Pathogenic 2 4 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided 2016-10-20 20.4 2.5 Pathogenic 0 -68630 Simple 121918741 T . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2017-06-22 10.8 1.5 Pathogenic/Likely pathogenic 1 -68650 Simple 121918777 C . Uncertain significance 2 2 Severe myoclonic epilepsy in infancy;not specified;Early infantile epileptic encephalopathy 2016-12-21 -0.6 1.0 Uncertain significance 0 -68662 Simple 121918751 C . Likely pathogenic 2 2 Severe myoclonic epilepsy in infancy;Seizures;not provided 2017-03-02 5.4 2.0 Likely pathogenic 0 -68668 Simple 121918773 G . Pathogenic 2 2 Severe myoclonic epilepsy in infancy 2016-11-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -68669 Simple 121918793 A . Pathogenic/Likely pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2017-05-01 9.0 0.5 Pathogenic/Likely pathogenic 0 -68671 Simple 121918802 C . Uncertain significance 2 3 not specified;not provided;West syndrome;Early infantile epileptic encephalopathy 2017-04-16 -0.87 1.0 Uncertain significance 0 -68738 Simple 121908200 G . Pathogenic 2 4 Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis;not provided;Inborn genetic diseases 2017-07-11 21.0 1.75 Pathogenic 0 -68745 Simple 1800746 C . Benign/Likely benign 2 5 Neuronal ceroid lipofuscinosis;not specified;not provided 2017-08-10 -24.0 1.8 Benign 1 -68788 Simple 281875323 G . Uncertain significance 2 2 Primary pulmonary hypertension;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-27 -0.6 1.0 Uncertain significance 0 -68849 Simple 121909451 G . Likely benign 3 3 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 -11.91 3.3333333333333335 Benign/Likely benign 1 -68851 Simple 41285099 T . Benign/Likely benign 2 3 Lynch syndrome II;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-13 -10.5 2.0 Benign/Likely benign 0 -69079 Simple 150020550 A . Benign/Likely benign 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-06-15 -12.0 0.6666666666666666 Benign/Likely benign 0 -69635 Simple 145832952 T . Uncertain significance 2 3 Dysferlinopathy;not specified 2017-07-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -71118 Simple 146650273 - . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not provided;Hereditary cancer-predisposing syndrome 2017-08-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -74248 Simple 267599025 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-01-29 -0.48 3.0 Uncertain significance 0 -74312 Simple 149660690 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-21 -0.48 2.5 Uncertain significance 0 -78960 Simple 188224114 A . Benign/Likely benign 2 5 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-04 -23.4 1.0 Benign/Likely benign 0 -79154 Simple 140281678 A . Uncertain significance 2 2 not specified;Spastic Paraplegia, Dominant 2017-10-12 -0.6 0.5 Uncertain significance 0 -79258 Simple 267603712 T . Uncertain significance 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-05-15 -0.6 0.5 Uncertain significance 0 -79628 Simple 141339355 A . Uncertain significance 2 2 not specified 2017-10-27 -0.5700000000000001 1.0 Uncertain significance 0 -80367 Simple 141283741 A . Benign/Likely benign 2 5 Multiple fibrofolliculomas;not specified;Hereditary cancer-predisposing syndrome;Spontaneous pneumothorax 2017-05-01 -17.4 1.2 Benign/Likely benign 0 -82052 Simple 267606317 T . Pathogenic/Likely pathogenic 2 2 Heterotopia;not provided 2016-09-30 6.6 3.0 Likely pathogenic 1 -82616 Simple 62626346 C . Benign/Likely benign, other 2 6 Familial colorectal cancer;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-18 -28.2 2.0 Benign 1 -83234 Simple 80188155 T . Likely benign, other 2 3 Familial colorectal cancer;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-13 -9.0 0.6666666666666666 Benign/Likely benign 1 -83252 Simple 1804197 A . Benign, other 2 1 Familial colorectal cancer;not specified;APC-Associated Polyposis Disorders 2016-06-14 . 1.0 . 0 -88673 Simple 397518413 T . Pathogenic/Likely pathogenic 2 3 Myhre syndrome;Juvenile polyposis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-23 15.0 0.3333333333333333 Pathogenic 1 -88675 Simple 397518423 A . Pathogenic 2 6 not specified;not provided;Immunodeficiency 14 2017-08-07 34.8 1.0 Pathogenic 0 -88732 Simple 397518470 T . Pathogenic/Likely pathogenic 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not provided 2017-06-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -88744 Simple 140291094 G . Pathogenic 2 1 Native American myopathy 2016-10-25 . 1.0 . 0 -88863 Simple 869320683 - . Pathogenic 2 2 Kartagener syndrome;Ciliary dyskinesia, primary, 11;Primary ciliary dyskinesia 2016-11-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -88865 Simple 376103979 G . Pathogenic/Likely pathogenic 2 2 Neurodegeneration with brain iron accumulation 4;not provided;Spastic paraplegia 43, autosomal recessive 2017-05-22 6.0 0.5 Likely pathogenic 1 -88913 Simple 587779352 - . Pathogenic 2 6 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-07-17 33.6 1.1666666666666667 Pathogenic 0 -88914 Simple 587779353 - . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-05-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -88953 Simple 201831933 G . Pathogenic 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not provided 2015-08-28 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -88958 Simple 137853281 - . Pathogenic 2 3 Wilson disease;not provided 2017-08-31 16.8 1.3333333333333333 Pathogenic 0 -88974 Simple 67376798 A . drug response 3 1 Dihydropyrimidine dehydrogenase deficiency;Fluorouracil response;not provided;capecitabine response - Toxicity/ADR;fluorouracil response - Toxicity/ADR;tegafur response - Toxicity/ADR;Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK;capecitabine response - Toxicity/ADR, Metabolism/PK;fluorouracil response - Toxicity/ADR, Metabolism/PK;tegafur response - Toxicity/ADR, Metabolism/PK . . 1.0 . 0 -88975 Simple 55886062 C . drug response 3 2 Dihydropyrimidine dehydrogenase deficiency;not provided;Pyrimidine analogues response - Toxicity/ADR;capecitabine response - Toxicity/ADR;fluorouracil response - Toxicity/ADR;tegafur response - Toxicity/ADR . 9.0 1.0 . 0 -89003 Simple 398122418 A . Pathogenic 2 2 not provided;Schaaf-yang syndrome 2016-05-27 10.2 2.5 Pathogenic/Likely pathogenic 1 -89037 Simple 201544686 A . Pathogenic/Likely pathogenic 2 2 Combined oxidative phosphorylation deficiency 10;not provided 2017-11-08 8.7 1.0 Pathogenic/Likely pathogenic 0 -89042 Simple 587779358 TTT . Pathogenic 2 1 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-05 . 1.0 . 0 -89046 Simple 587779362 TT . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 42.0 0.7142857142857143 Pathogenic 0 -89048 Simple 587779363 - . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -89049 Simple 587779364 CC . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -89052 Simple 587779366 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -1.17 1.0 Uncertain significance 0 -89053 Simple 191253965 G . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-28 -5.999999999999999 1.4 Likely benign 2 -89054 Simple 80359199 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.87 0.6666666666666666 Uncertain significance 0 -89055 Simple . . . Pathogenic 2 3 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-01-03 15.600000000000001 2.3333333333333335 Pathogenic 0 -89058 Simple 587779367 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-05 -0.51 2.5 Uncertain significance 0 -89059 Simple 587779368 A . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.77 0.5 Uncertain significance 0 -89060 Simple 80357455 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2015-06-23 -0.48 3.0 Uncertain significance 0 -89061 Simple . . . Pathogenic 2 2 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-12-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -89063 Simple . . . Pathogenic 2 2 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-10-02 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -89066 Simple . . . Pathogenic 2 2 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-01-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -89067 Simple . . . Pathogenic 2 2 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-11-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -89069 Simple . . . Pathogenic 2 1 Familial cancer of breast;Breast-ovarian cancer, familial 1 2015-10-02 . 2.0 . 0 -89149 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89150 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89151 Simple 587779200 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89152 Simple . . . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89153 Simple 2537742 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89154 Simple 587779201 TTTT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89155 Simple 2020906 A . Uncertain significance 3 3 Lynch syndrome;not specified 2013-09-05 -6.531 1.6666666666666667 Likely benign 2 -89156 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89157 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89158 Simple 41540312 T . Benign 3 2 Lynch syndrome 2013-09-05 -7.62 2.5 Likely benign 2 -89159 Simple 199913053 T . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -8.031 2.6666666666666665 Likely benign 2 -89160 Simple 181096360 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89161 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89162 Simple 3136229 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89163 Simple 3136228 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89164 Simple 565211544 T . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -6.111 2.5 Likely benign 2 -89165 Simple 61753793 C . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.51 1.0 Likely benign 0 -89166 Simple 587779202 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89167 Simple 267608060 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -89168 Simple 63750440 A . Uncertain significance 3 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.431 1.4 Uncertain significance 0 -89169 Simple 267608056 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89170 Simple 63750213 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89171 Simple 587779203 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89172 Simple 587779204 C . Uncertain significance 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 11.169 0.8333333333333334 Pathogenic/Likely pathogenic 3 -89173 Simple 587779205 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.131 1.5 Uncertain significance 0 -89174 Simple 267608077 - . Pathogenic 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 33.42 1.8333333333333333 Pathogenic 0 -89175 Simple 587779206 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89176 Simple 587779207 T . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -4.431 1.0 Likely benign 2 -89177 Simple 267608043 - . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -89178 Simple 63750439 - . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -89179 Simple 587779208 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89180 Simple 34014629 T . Uncertain significance 3 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -9.501 1.2 Benign/Likely benign 3 -89181 Simple 63750026 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89182 Simple 63751452 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89183 Simple 63749971 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89184 Simple 587779209 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89185 Simple 267608055 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89186 Simple 63751405 C . Uncertain significance 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 4.269 2.75 Likely pathogenic 2 -89187 Simple 587779210 C . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.131 1.25 Uncertain significance 0 -89188 Simple 587779211 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89189 Simple 63750741 C . Pathogenic 3 4 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 22.62 1.5 Pathogenic 0 -89190 Simple 267608052 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89191 Simple 369456858 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 1.2 Uncertain significance 0 -89192 Simple 41295268 A . Likely benign 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -3.21 1.25 Uncertain significance 2 -89193 Simple 63750854 TGTG . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -89194 Simple 63750909 T . Pathogenic 3 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.62 1.4 Pathogenic 0 -89195 Simple 61754783 G . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.341 1.8 Uncertain significance 0 -89196 Simple 267608046 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89197 Simple 587779212 T . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 31.62 1.8333333333333333 Pathogenic 0 -89198 Simple 63750897 G . Likely benign 3 9 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -31.11 2.0 Benign 2 -89199 Simple 587779213 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89200 Simple 63751009 G . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.101 1.75 Uncertain significance 0 -89201 Simple 587779214 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89202 Simple 587779215 G . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89203 Simple 63751090 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89204 Simple 587779216 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89205 Simple 587779217 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89206 Simple 267608049 AG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89207 Simple 587779218 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89208 Simple 63751098 C . Likely benign 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -11.31 1.5 Benign/Likely benign 1 -89209 Simple 587779219 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89210 Simple 267608064 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89211 Simple 63749874 - . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 15.42 2.6666666666666665 Pathogenic 0 -89212 Simple 63751172 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89213 Simple 267608076 - . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.02 1.75 Pathogenic 0 -89214 Simple 63751312 T . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89215 Simple 63750595 A . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.771 2.6666666666666665 Uncertain significance 0 -89216 Simple 63749893 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -8.931000000000001 1.75 Benign/Likely benign 3 -89217 Simple 63749973 A . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -7.131 1.1666666666666667 Likely benign 2 -89218 Simple 542838372 T . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.701 1.1666666666666667 Uncertain significance 0 -89219 Simple 41295270 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 1.0 Uncertain significance 0 -89220 Simple 587779220 C . Uncertain significance 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 5.469 1.75 Likely pathogenic 2 -89221 Simple 267608070 T . Likely benign 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -8.31 2.0 Likely benign 0 -89222 Simple 267608045 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89223 Simple 267608050 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89224 Simple 63750735 - . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89225 Simple 587779221 AA . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89226 Simple 201735525 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89227 Simple 63750564 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89228 Simple 63751121 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.401 1.4 Uncertain significance 0 -89229 Simple 63750462 T . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89230 Simple 71539659 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89231 Simple 63749886 T . Uncertain significance 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -22.731 1.7142857142857142 Benign/Likely benign 3 -89232 Simple 267608082 - . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89233 Simple 34938432 C . Uncertain significance 3 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.101 1.2 Uncertain significance 0 -89234 Simple 41294984 T . Likely benign 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.21 1.25 Uncertain significance 2 -89235 Simple 63751167 GTGAGTGA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89236 Simple 587779222 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89237 Simple 555209664 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.131 1.4 Uncertain significance 0 -89238 Simple 63749857 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89239 Simple 587779223 C . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.6666666666666667 Uncertain significance 0 -89240 Simple 587779224 C . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.101 1.75 Uncertain significance 0 -89241 Simple 587779225 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89242 Simple 267608057 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89243 Simple 587779226 CTCT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89244 Simple 63750358 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89245 Simple 587779227 A . Likely pathogenic 3 7 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.71 1.0 Pathogenic 2 -89246 Simple 267608068 A . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.02 1.5 Pathogenic 0 -89247 Simple 63750075 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89248 Simple 587779228 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89249 Simple 587779229 C . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89250 Simple 63750832 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89251 Simple 63750832 G . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 0.8 Uncertain significance 0 -89252 Simple 587779230 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89253 Simple 63751419 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89254 Simple 587779231 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89255 Simple 587779232 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89256 Simple 267608058 - . Pathogenic 3 7 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 37.620000000000005 1.8571428571428572 Pathogenic 0 -89257 Simple 63750304 G . Uncertain significance 3 4 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.25 Uncertain significance 0 -89258 Simple 63750136 AG . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89259 Simple 574358605 A . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -89260 Simple 35552856 C . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.131 1.25 Uncertain significance 0 -89261 Simple 63751442 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89262 Simple 63751127 T . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.02 1.2 Pathogenic 0 -89263 Simple 63751305 T . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -15.831 2.3333333333333335 Benign/Likely benign 3 -89264 Simple 587779233 A . Uncertain significance 3 2 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89265 Simple 63750985 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89266 Simple 63750647 - . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 2.769 2.0 Uncertain significance 0 -89267 Simple 63750138 T . Uncertain significance 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 7.569 1.6 Likely pathogenic 2 -89268 Simple 63749895 A . Likely benign 3 2 Lynch syndrome 2013-09-05 -5.3100000000000005 2.5 Likely benign 0 -89269 Simple 63749895 T . Likely benign 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -24.51 2.0 Benign 2 -89270 Simple 267608067 A . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89271 Simple 587779234 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89272 Simple 63749899 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89273 Simple 587779235 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89274 Simple 267608065 - . Pathogenic 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 21.42 2.0 Pathogenic 0 -89275 Simple 63750637 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89276 Simple 587779236 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89277 Simple 587779237 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89278 Simple 587779238 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.0 Uncertain significance 0 -89279 Simple 61748083 C . Uncertain significance 3 8 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer;Hereditary nonpolyposis colon cancer 2013-09-05 -4.071 1.625 Uncertain significance 0 -89280 Simple 267608071 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -12.231 1.2 Benign/Likely benign 3 -89281 Simple 63751450 G . Uncertain significance 3 8 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer;Hereditary nonpolyposis colon cancer 2013-09-05 -2.301 1.0 Uncertain significance 0 -89282 Simple 587779239 A . Likely benign 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 -5.91 1.5 Likely benign 0 -89283 Simple 587779240 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89284 Simple 267608053 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89285 Simple 63751321 T . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.02 2.0 Pathogenic 0 -89286 Simple 587779241 TT . Pathogenic 3 3 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -89287 Simple 63750389 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89288 Simple 587779242 A . Uncertain significance 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -8.331 2.25 Likely benign 2 -89289 Simple 34374438 T . Uncertain significance 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer;Hereditary nonpolyposis colon cancer 2013-09-05 -4.701 1.0 Likely benign 2 -89290 Simple 587779243 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89291 Simple 190075874 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 1.6 Uncertain significance 0 -89292 Simple 267608030 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89293 Simple 267608031 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89294 Simple 3136245 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89295 Simple 55927047 G . Benign 3 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -10.620000000000001 2.0 Benign/Likely benign 1 -89296 Simple 3136247 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89297 Simple 267608027 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89298 Simple 267608028 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89299 Simple 267608029 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89300 Simple 3136272 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89301 Simple 1800931 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89302 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89303 Simple 63750357 ATTAATTA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89304 Simple 2020912 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.0 Uncertain significance 0 -89305 Simple 63751408 AAAA . Uncertain significance 3 7 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -2.001 1.4285714285714286 Uncertain significance 0 -89306 Simple 2020914 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89307 Simple 267608069 G . Likely benign 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -8.31 1.6666666666666667 Likely benign 0 -89308 Simple 587779244 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89309 Simple 63749889 A . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -89310 Simple 587779245 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89311 Simple 63750904 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89312 Simple 63751017 T . Pathogenic 3 8 Endometrial carcinoma;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 43.62 1.75 Pathogenic 0 -89313 Simple 63750056 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89314 Simple 587779246 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89315 Simple 587779247 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89316 Simple 267608063 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89317 Simple 587779248 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -3.231 2.5 Uncertain significance 0 -89318 Simple 63750140 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89319 Simple 587779249 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89320 Simple 63750940 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89321 Simple 63749919 C . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.531 2.0 Uncertain significance 0 -89322 Simple 63751113 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 2.169 1.25 Uncertain significance 0 -89323 Simple 63750111 G . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89324 Simple 587779250 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -89325 Simple 63750942 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89326 Simple 587779251 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89327 Simple 63751258 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89328 Simple 63750258 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89329 Simple 63749938 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89330 Simple 63750563 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.02 1.5 Pathogenic 0 -89331 Simple 587779252 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89332 Simple 587779253 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89333 Simple 267608073 - . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.701 1.3333333333333333 Uncertain significance 0 -89334 Simple 63751407 - . Pathogenic 3 2 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome 2013-09-05 7.62 5.0 Likely pathogenic 2 -89335 Simple 63750287 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89336 Simple 267608059 T . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 15.420000000000002 2.6666666666666665 Pathogenic 0 -89337 Simple 267608054 T . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.471 3.5 Uncertain significance 0 -89338 Simple 63749999 T . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.62 1.0 Pathogenic 0 -89339 Simple 267608042 - . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.62 1.2 Pathogenic 0 -89340 Simple 63750833 - . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.25 Pathogenic 0 -89341 Simple 267608075 T . Likely benign 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -14.31 1.25 Benign/Likely benign 1 -89342 Simple 587779254 A . Uncertain significance 3 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.401 1.8 Uncertain significance 0 -89343 Simple 3136337 T . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89344 Simple 587779255 T . Likely pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 13.71 2.0 Pathogenic/Likely pathogenic 1 -89345 Simple 2072447 C . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89346 Simple 189672273 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89347 Simple 587779256 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 7.62 2.5 Likely pathogenic 2 -89348 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89349 Simple 63750196 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89350 Simple 267608085 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89351 Simple 63749821 TATA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89352 Simple 63749843 T . Pathogenic 3 9 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 49.620000000000005 1.4444444444444444 Pathogenic 0 -89353 Simple 63750784 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89354 Simple 267608074 T . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89355 Simple 587779257 G . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.471 3.5 Uncertain significance 0 -89356 Simple 267608090 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89357 Simple 63750617 T . Uncertain significance 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 17.769 0.8333333333333334 Pathogenic 3 -89358 Simple 191109849 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.131 0.8 Uncertain significance 0 -89359 Simple 63750998 A . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.131 1.0 Uncertain significance 0 -89360 Simple 63750998 T . Uncertain significance 3 8 Lynch syndrome;Ovarian cancer;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -7.731 0.75 Likely benign 2 -89361 Simple 587779258 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89362 Simple 63750753 G . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.431 1.1666666666666667 Likely benign 2 -89363 Simple 267608078 - . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.02 1.1666666666666667 Pathogenic 0 -89364 Simple 267608087 CC . Pathogenic 3 9 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 48.42 1.6666666666666667 Pathogenic 0 -89365 Simple 267608091 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89366 Simple 587779259 - . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.02 2.3333333333333335 Pathogenic 0 -89367 Simple 267608095 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89368 Simple 63750253 A . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.431 0.8333333333333334 Likely benign 2 -89369 Simple 63750442 T . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.701 1.1666666666666667 Uncertain significance 0 -89370 Simple 267608092 - . Pathogenic 3 3 Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.02 2.0 Pathogenic 0 -89371 Simple 267608093 - . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -89372 Simple 63750377 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89373 Simple 267608088 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89374 Simple 587779260 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89375 Simple 267608084 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89376 Simple 267608086 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89377 Simple . . . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 15.420000000000002 2.6666666666666665 Pathogenic 0 -89378 Simple 587779261 G . Uncertain significance 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.25 Uncertain significance 0 -89379 Simple 587776705 - . Uncertain significance 3 1 Turcot syndrome;Lynch syndrome 2013-09-05 . 4.0 . 0 -89380 Simple 63751063 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89381 Simple 267608089 T . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.7309999999999999 1.0 Uncertain significance 0 -89382 Simple 63750356 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89383 Simple 587779262 C . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -89384 Simple 377746844 - . Uncertain significance 3 4 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -8.211 3.25 Likely benign 2 -89385 Simple 267608097 TT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89386 Simple 267608096 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89387 Simple 370170322 C . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2013-09-05 -3.531 1.6666666666666667 Uncertain significance 0 -89388 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89389 Simple 192614006 T . Benign 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -23.82 3.2 Benign/Likely benign 1 -89390 Simple 587779263 T . Likely pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.71 1.6 Pathogenic 2 -89391 Simple 267608098 G . Likely pathogenic 3 8 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 35.31 0.875 Pathogenic 2 -89392 Simple 63750257 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89393 Simple 587779264 A . Uncertain significance 3 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.441 4.0 Uncertain significance 0 -89394 Simple 587779265 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89395 Simple 398123231 T . Uncertain significance 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -8.631 1.75 Benign/Likely benign 3 -89396 Simple 376799914 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89397 Simple 587779266 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89398 Simple 63751427 CTGCTG . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89399 Simple 587779267 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 21.42 2.25 Pathogenic 0 -89400 Simple 63750252 T . Likely benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -33.51 2.25 Benign 2 -89401 Simple 63751410 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89402 Simple 63749834 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -13.731 2.2 Benign/Likely benign 3 -89403 Simple 63750194 - . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.02 1.5 Pathogenic 0 -89404 Simple 63751327 AA . Pathogenic 3 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 26.22 2.4 Pathogenic 0 -89405 Simple 267608099 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89406 Simple 587779268 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89407 Simple 63750296 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89408 Simple 267608101 GTTTGTTT . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -89409 Simple 267608100 G . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.25 Uncertain significance 0 -89410 Simple 7562048 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89411 Simple 56320267 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89412 Simple 587779269 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89413 Simple 587779270 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89414 Simple 587779271 AA . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.231 2.0 Uncertain significance 0 -89416 Simple 189436849 A . Likely benign 3 1 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome 2014-10-10 . 3.0 . 0 -89417 Simple 267608102 - . Uncertain significance 3 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -2.331 4.0 Uncertain significance 0 -89418 Simple 267608104 TT . Benign 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -11.82 3.6666666666666665 Benign/Likely benign 1 -89419 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89420 Simple 267608108 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89421 Simple 587779272 A . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 1.6666666666666667 Uncertain significance 0 -89422 Simple 63751328 A . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 2.769 2.5 Uncertain significance 0 -89423 Simple 182024561 G . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 2.199 1.75 Uncertain significance 0 -89424 Simple 587779273 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.131 1.0 Uncertain significance 0 -89425 Simple 587779274 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89426 Simple 587779275 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89427 Simple 63750731 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89428 Simple 587779276 T . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -5.631 2.3333333333333335 Likely benign 2 -89429 Simple 2234731 - . Benign 3 2 Lynch syndrome;not specified 2013-09-05 -10.02 3.0 Benign/Likely benign 1 -89430 Simple 587779278 ATCTATCT . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89431 Simple 587779277 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89432 Simple 3136359 C . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89433 Simple 267608106 - . Likely pathogenic 3 1 Lynch syndrome 2014-03-14 . 3.0 . 0 -89434 Simple 587779279 A . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 16.02 2.3333333333333335 Pathogenic 0 -89435 Simple 267608111 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89436 Simple 374071326 . . Likely benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89437 Simple 397515292 . . Uncertain significance 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89439 Simple 587779281 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89440 Simple 267608112 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89441 Simple 63749898 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89442 Simple 63750949 T . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 2.769 2.0 Uncertain significance 0 -89443 Simple 63750370 T . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.7309999999999999 1.0 Uncertain significance 0 -89444 Simple 63750523 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89445 Simple 587779282 T . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.801 2.0 Uncertain significance 0 -89446 Simple 587779283 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -89447 Simple 41295276 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.471 3.5 Uncertain significance 0 -89448 Simple 587779284 - . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.801 2.3333333333333335 Uncertain significance 0 -89449 Simple 587779285 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 2.199 1.75 Uncertain significance 0 -89450 Simple 63749942 - . Likely pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 14.31 1.0 Pathogenic/Likely pathogenic 1 -89451 Simple 63750119 T . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.441 4.0 Uncertain significance 0 -89452 Simple 587779286 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89453 Simple 587779287 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89454 Simple 587779288 ATTAATTA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89455 Simple 63750882 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89456 Simple 587779289 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89457 Simple 375459388 T . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.401 1.1666666666666667 Likely benign 2 -89458 Simple 63751058 G . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.0 Pathogenic 0 -89459 Simple 63750554 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89460 Simple 587779290 C . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.531 2.5 Uncertain significance 0 -89461 Simple 367912290 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.75 Uncertain significance 0 -89462 Simple 587779291 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89463 Simple 267608114 - . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -89464 Simple 3136365 C . Uncertain significance 3 3 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified 2013-09-05 -7.731 3.0 Likely benign 2 -89465 Simple 587779292 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89466 Simple 267608116 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89467 Simple 397897614 TT . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89468 Simple 587779293 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89469 Simple 267608118 AA . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.62 1.5 Pathogenic 0 -89470 Simple 587779294 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89471 Simple 63750262 AATGAATG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89472 Simple 63750139 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89473 Simple 63750143 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.071 2.0 Uncertain significance 0 -89474 Simple 63751319 - . Pathogenic 3 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 25.02 1.8 Pathogenic 0 -89475 Simple 267608128 ATTAATTA . Pathogenic 3 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.62 1.2 Pathogenic 0 -89476 Simple 63750836 T . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.431 1.1666666666666667 Likely benign 2 -89477 Simple 2229018 A . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -14.031 2.0 Benign/Likely benign 3 -89478 Simple 267608130 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89479 Simple 34625968 A . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -20.91 2.1666666666666665 Benign/Likely benign 1 -89480 Simple 587779295 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89481 Simple 587779296 ATCTCCCAATCTCCCA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89482 Simple 267608129 C . Uncertain significance 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.5 Uncertain significance 0 -89483 Simple 267608127 AAGTAAGT . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89484 Simple 61753796 C . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.2010000000000005 2.0 Likely benign 2 -89485 Simple 267608126 TTCATTCA . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -89486 Simple 63750767 . . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 33.42 1.5 Pathogenic 0 -89487 Simple 587779297 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89488 Simple 267608120 - . Pathogenic 3 8 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 46.02 1.125 Pathogenic 0 -89489 Simple 587779298 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89490 Simple 41295278 G . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, early onset;Hereditary nonpolyposis colon cancer 2013-09-05 -4.401 1.0 Likely benign 2 -89491 Simple 267608125 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89492 Simple 587779299 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89493 Simple 777930591 . . Uncertain significance 3 1 Lynch syndrome 2014-02-07 . 4.0 . 0 -89494 Simple 587779300 - . Uncertain significance 3 7 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -2.001 1.4285714285714286 Uncertain significance 0 -89495 Simple 267608124 ATCA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89496 Simple 267608121 GTCAGTCA . Pathogenic 3 7 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 40.62 1.0 Pathogenic 0 -89497 Simple 199594809 T . Likely benign 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.21 1.4 Likely benign 0 -89498 Simple 587779301 ATTTCATTTC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89499 Simple 587779302 AACTAAACTA . Uncertain significance 3 5 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -10.731 2.4 Benign/Likely benign 3 -89500 Simple 267608132 - . Uncertain significance 3 9 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -25.341 2.111111111111111 Benign 3 -89501 Simple 267608131 C . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89502 Simple 267608136 AACTAACT . Uncertain significance 3 2 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome 2013-09-05 -3.231 2.5 Uncertain significance 0 -89503 Simple 587779303 CTGACCTTAACTGACCTTAA . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89504 Simple 587779304 AAGTAAGT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89505 Simple 587779305 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89506 Simple 267608122 A . Pathogenic 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 0.6666666666666666 Pathogenic 0 -89507 Simple 545466048 A . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2013-09-05 -7.431 1.3333333333333333 Likely benign 2 -89508 Simple 267608137 - . Likely benign 3 2 Lynch syndrome;not specified 2013-09-05 -7.710000000000001 3.0 Likely benign 0 -89509 Simple 587779306 - . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.501 3.0 Uncertain significance 0 -89510 Simple 587779307 TTTT . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89511 Simple 587779307 TTTTTT . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89512 Simple 587779307 TTTTTTTT . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89513 Simple 587779310 . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89514 Simple 267608133 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89515 Simple 267608139 AA . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -3.531 1.6666666666666667 Uncertain significance 0 -89516 Simple 267608140 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89517 Simple 267608141 GTCA . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89518 Simple 55740729 GATTGATT . Likely benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -35.91 1.75 Benign 2 -89519 Simple 63750342 A . Pathogenic 3 1 Lynch syndrome I;Lynch syndrome 2013-09-05 . 4.0 . 0 -89520 Simple 63750525 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89521 Simple 2348244 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89522 Simple 1800933 G . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -23.91 2.8333333333333335 Benign/Likely benign 1 -89523 Simple 267608033 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89524 Simple 267608036 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89525 Simple 3136284 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89526 Simple 3136282 A . Benign 3 2 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome 2013-09-05 -10.02 3.0 Benign/Likely benign 1 -89527 Simple 374618432 TGTG . Uncertain significance 3 2 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -89528 Simple 587779312 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89529 Simple 267608034 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89530 Simple 554847828 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89531 Simple 267608035 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89532 Simple 1800934 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89533 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89534 Simple 63749873 G . Pathogenic 3 6 Lynch syndrome I;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 33.42 1.3333333333333333 Pathogenic 0 -89535 Simple 63751030 A . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -5.331 3.0 Likely benign 2 -89536 Simple 587779313 T . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -2.931 3.0 Uncertain significance 0 -89537 Simple 267608037 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89538 Simple 267608038 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 1.6666666666666667 Uncertain significance 0 -89539 Simple 63751077 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89540 Simple 63750664 T . Uncertain significance 3 7 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal / endometrial cancer;Hereditary nonpolyposis colon cancer 2013-09-05 -16.701 1.7142857142857142 Benign/Likely benign 3 -89541 Simple 587779314 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -8.331 2.25 Likely benign 2 -89542 Simple 3136326 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89543 Simple 1800936 T . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89544 Simple 3136329 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89545 Simple 267608025 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -89546 Simple 1800937 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89547 Simple 1800937 G . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89548 Simple 63750471 TT . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.401 1.6 Uncertain significance 0 -89550 Simple 587779315 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89551 Simple 1800938 C . Likely benign 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -11.31 1.5 Benign/Likely benign 1 -89552 Simple 41557217 C . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -20.031 1.5 Benign/Likely benign 3 -89553 Simple 41557217 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89554 Simple 587779316 G . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -3.201 2.6666666666666665 Uncertain significance 0 -89555 Simple 587779317 T . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -89556 Simple 587779318 T . Pathogenic 3 3 Lynch syndrome;not provided 2013-09-05 14.22 3.3333333333333335 Pathogenic/Likely pathogenic 1 -89557 Simple 63750996 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89558 Simple 587779319 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89559 Simple 63750019 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89560 Simple 267608066 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89561 Simple 587779320 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89562 Simple 267608026 T . Uncertain significance 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -12.771 1.5 Benign/Likely benign 3 -89563 Simple 63749980 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.25 Pathogenic 0 -89564 Simple 554884560 G . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 1.6666666666666667 Uncertain significance 0 -89565 Simple 587779321 G . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.531 2.5 Uncertain significance 0 -89566 Simple 267608048 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89567 Simple 267608072 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -89568 Simple 587779322 G . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 2.0 Uncertain significance 0 -89569 Simple 63750552 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89570 Simple 267608062 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89571 Simple 63750878 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 1.4 Uncertain significance 0 -89572 Simple 267608079 AA . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.581 1.8333333333333333 Uncertain significance 0 -89573 Simple 267608051 G . Uncertain significance 3 9 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -2.571 1.2222222222222223 Uncertain significance 0 -89574 Simple 146816935 T . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 25.02 1.4 Pathogenic 0 -89575 Simple 587779323 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89576 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89577 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89578 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89579 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89580 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89581 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89582 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89583 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89584 Simple 587778879 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89585 Simple 10849 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89586 Simple 587778880 G . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -3.231 2.5 Uncertain significance 0 -89587 Simple 587778886 G . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89588 Simple 35032294 G . Likely benign 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -13.11 2.6666666666666665 Benign/Likely benign 1 -89589 Simple 587779001 A . Uncertain significance 3 3 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 11.769 2.0 Pathogenic/Likely pathogenic 3 -89590 Simple 56198082 G . Uncertain significance 3 5 Lynch syndrome;not specified 2013-09-05 -12.801 1.6 Benign/Likely benign 3 -89591 Simple 56198082 T . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.501 3.0 Uncertain significance 0 -89592 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89593 Simple 41285097 T . Uncertain significance 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 0.3690000000000001 2.0 Uncertain significance 0 -89594 Simple 9311149 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89595 Simple 587779020 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89596 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89597 Simple 587779030 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89598 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89599 Simple 104894994 T . Uncertain significance 3 3 Lynch syndrome;not specified;not provided 2013-09-05 -5.931 2.0 Likely benign 2 -89600 Simple 1800734 A . Benign 3 3 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -12.42 2.6666666666666665 Benign/Likely benign 1 -89601 Simple 267607812 T . Likely benign 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -5.3100000000000005 2.0 Likely benign 0 -89602 Simple 63750434 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89603 Simple 63750853 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -89604 Simple 63750677 CC . Pathogenic 3 4 Lynch syndrome II;Lynch syndrome;not provided 2013-09-05 20.22 2.5 Pathogenic 0 -89605 Simple 63751467 G . Uncertain significance 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -4.731 1.0 Likely benign 2 -89606 Simple 63750339 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89607 Simple 63749837 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89608 Simple 587778881 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89609 Simple 63749813 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89610 Simple 63751609 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89611 Simple 3774338 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89612 Simple 267607818 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89613 Simple 267607816 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89614 Simple 55986674 T . Likely benign 3 3 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2014-10-10 -13.44 2.3333333333333335 Benign/Likely benign 1 -89615 Simple 2286939 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89616 Simple 63751715 A . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.62 1.25 Pathogenic 0 -89617 Simple 63751715 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89618 Simple 63751715 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89619 Simple 267607819 A . Pathogenic 3 3 Lynch syndrome;not provided 2013-09-05 14.82 3.0 Pathogenic/Likely pathogenic 1 -89620 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89621 Simple 267607815 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89622 Simple 267607815 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89623 Simple 148615368 - . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89624 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89625 Simple 11129748 G . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89626 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89627 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89628 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -89629 Simple 201541505 A . Benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -10.62 1.3333333333333333 Benign/Likely benign 1 -89630 Simple 267607822 TT . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89631 Simple 63749906 G . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -89632 Simple 587778882 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89633 Simple 587778883 - . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89634 Simple 63751265 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89635 Simple 63750472 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89636 Simple 587778884 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89637 Simple 587778885 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89638 Simple 267607707 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89639 Simple 63749864 G . Uncertain significance 3 3 Lynch syndrome;not specified 2013-09-05 -0.831 2.0 Uncertain significance 0 -89640 Simple 63751012 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89641 Simple 63751012 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89642 Simple 63750715 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89643 Simple 267607824 C . Benign 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -24.42 1.8333333333333333 Benign 0 -89644 Simple 63750305 TATA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89645 Simple 63750580 C . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 14.22 3.3333333333333335 Pathogenic/Likely pathogenic 1 -89646 Simple 63750580 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89647 Simple 587778887 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89648 Simple 587778888 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89649 Simple 63750557 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 1.6666666666666667 Uncertain significance 0 -89650 Simple 587778889 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89651 Simple 267607706 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89652 Simple 63749965 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89653 Simple 63750760 T . Uncertain significance 3 7 Lynch syndrome I;Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2015-11-24 0.9030000000000002 0.8571428571428571 Uncertain significance 0 -89654 Simple 63750430 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89655 Simple 587778890 C . Uncertain significance 3 1 Lynch syndrome I 2015-11-24 . 2.0 . 0 -89656 Simple 267607709 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89657 Simple 587778891 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89658 Simple 267607710 C . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89659 Simple 587778892 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89660 Simple 587778893 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89661 Simple 61751644 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.101 2.0 Uncertain significance 0 -89662 Simple 63751701 A . Likely pathogenic 3 2 Lynch syndrome;not specified;not provided 2013-09-05 2.0100000000000002 2.0 Uncertain significance 2 -89663 Simple 63751701 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89664 Simple 267607711 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89665 Simple 587778895 - . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89666 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89667 Simple . TCCCGGGTTCAAGCGATTCT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89668 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89669 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89670 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89671 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89672 Simple 587778894 T . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89673 Simple 63750749 - . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -89674 Simple 63750483 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89675 Simple 63751485 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89676 Simple 587778896 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89677 Simple 587778897 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89678 Simple 63751015 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89679 Simple 587778898 CC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89680 Simple 587778899 GTCAGCCGTCAGCC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89681 Simple 587778900 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89682 Simple 267607713 C . Pathogenic 3 2 Lynch syndrome I;not provided 2014-10-10 11.280000000000001 2.0 Pathogenic/Likely pathogenic 1 -89683 Simple 63751153 T . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89684 Simple 63751094 G . Uncertain significance 3 1 Lynch syndrome I 2015-03-18 . 2.0 . 0 -89685 Simple 267607823 G . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.531 2.0 Uncertain significance 0 -89686 Simple 63751118 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89687 Simple 63751179 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89688 Simple 587778901 T . Uncertain significance 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.7309999999999999 1.1666666666666667 Uncertain significance 0 -89689 Simple 63750293 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89690 Simple 63750791 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -17.931 1.6 Benign/Likely benign 3 -89691 Simple 63750316 T . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -89692 Simple 63751431 AATCAATC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89693 Simple 63750443 C . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89694 Simple 63751414 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89695 Simple 63750748 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89696 Simple 63750365 A . Benign 3 7 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -19.92 1.0 Benign/Likely benign 1 -89697 Simple 587778903 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89698 Simple 34213726 C . Uncertain significance 3 3 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -3.531 1.6666666666666667 Uncertain significance 0 -89699 Simple 63749845 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89700 Simple 587778904 TGTT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89701 Simple 63749981 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89702 Simple 587778905 TAAA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89703 Simple 587778906 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89704 Simple 63750071 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89705 Simple 63750527 C . Uncertain significance 3 7 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -10.101 1.1428571428571428 Benign/Likely benign 3 -89706 Simple 587778907 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89707 Simple 267607821 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89708 Simple 587778908 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89709 Simple 63750020 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89710 Simple 63749833 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89711 Simple 587778909 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -89712 Simple 63750201 C . Uncertain significance 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -8.331 2.25 Likely benign 2 -89713 Simple 63750713 - . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89714 Simple 587778910 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.231 1.6666666666666667 Likely benign 2 -89715 Simple 267607820 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89716 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89717 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89718 Simple 267607825 A . Likely pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 20.31 1.25 Pathogenic 2 -89719 Simple 267607825 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89720 Simple 587778911 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89721 Simple 267607827 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89722 Simple 7633154 T . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89723 Simple 267607826 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89724 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89725 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89726 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89727 Simple 63751592 - . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.25 Pathogenic 0 -89728 Simple 63751677 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89729 Simple 63750616 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89730 Simple 281864936 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89731 Simple 63751468 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89732 Simple 63750498 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89733 Simple 281864937 - . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89734 Simple 587778912 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89735 Simple 147939838 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89736 Simple 63750482 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89737 Simple 63751083 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89738 Simple 587778913 T . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89739 Simple 587778914 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89740 Simple 587778915 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89741 Simple 587778916 C . Uncertain significance 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -8.631 1.75 Benign/Likely benign 3 -89742 Simple 63750314 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89743 Simple 63750956 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89744 Simple 63749795 T . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 33.42 1.6666666666666667 Pathogenic 0 -89745 Simple 587778917 A . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.801 2.3333333333333335 Uncertain significance 0 -89746 Simple 587778918 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89747 Simple 63749876 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89748 Simple 587778919 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89749 Simple 63750098 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89750 Simple 63751145 A . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 0.8 Uncertain significance 0 -89751 Simple 63750226 G . Uncertain significance 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.671 1.8333333333333333 Uncertain significance 0 -89752 Simple 63750855 - . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89753 Simple 63751031 CC . Pathogenic 3 7 Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 40.02 1.4285714285714286 Pathogenic 0 -89754 Simple 63751435 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89755 Simple 587778920 - . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.531 2.0 Uncertain significance 0 -89756 Simple 63749956 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89757 Simple 63749909 C . Uncertain significance 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 8.229 1.3333333333333333 Likely pathogenic 2 -89758 Simple 587778921 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89759 Simple 63749916 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89760 Simple 267607829 T . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.471 3.5 Uncertain significance 0 -89761 Simple 63749923 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89762 Simple 63751472 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89763 Simple 587778922 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89764 Simple 63750317 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89765 Simple 63751705 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89766 Simple 587778924 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89767 Simple 587778925 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89768 Simple 63751689 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89769 Simple 587778926 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89770 Simple 267607833 A . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -3.231 2.5 Uncertain significance 0 -89771 Simple 267607834 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89772 Simple 267607832 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89773 Simple 3774335 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89774 Simple 267607831 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89775 Simple . . . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89776 Simple 3774332 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89777 Simple 267607838 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89778 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89779 Simple 267607837 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89780 Simple 267607837 C . Likely pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 5.3100000000000005 2.5 Likely pathogenic 0 -89781 Simple 267607837 T . Pathogenic 3 3 Lynch syndrome;not provided 2013-09-05 15.42 2.6666666666666665 Pathogenic 0 -89782 Simple 267607836 C . Likely pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 8.31 2.5 Likely pathogenic 0 -89783 Simple 267607836 G . Pathogenic 3 5 Lynch syndrome II;Lynch syndrome;not provided 2013-09-05 27.42 1.8 Pathogenic 0 -89784 Simple 267607836 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89785 Simple 4678925 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89786 Simple 267607830 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89787 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89788 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89789 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89790 Simple 587778923 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89791 Simple 63751630 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.131 1.25 Uncertain significance 0 -89792 Simple 63751680 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.531 2.0 Uncertain significance 0 -89793 Simple 587778927 - . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -89794 Simple 63750028 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89795 Simple 587778928 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89796 Simple 63751613 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89797 Simple 587778929 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89798 Simple 587778930 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 6.720000000000001 4.0 Likely pathogenic 2 -89799 Simple 587778931 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89800 Simple 63751891 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89801 Simple 63751277 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89802 Simple 587778933 A . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -89803 Simple 267607842 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89804 Simple 267607843 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89805 Simple 587778932 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89806 Simple 63751266 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89807 Simple 63750036 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89808 Simple 63750824 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89809 Simple 63750192 T . Pathogenic 3 2 Lynch syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -89810 Simple 63750511 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89811 Simple 63750511 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89812 Simple 267607840 G . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.701 1.3333333333333333 Uncertain significance 0 -89813 Simple 587778934 TTATATTATA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89814 Simple 63750300 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89815 Simple 63751087 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89816 Simple 63750289 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89817 Simple 587778935 TCTTCT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89818 Simple 63750193 C . Pathogenic 3 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2016-11-03 9.6 0.5 Pathogenic/Likely pathogenic 1 -89819 Simple 63750271 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89820 Simple 587778936 T . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.231 2.0 Uncertain significance 0 -89821 Simple 63751641 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89822 Simple 587778937 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89823 Simple 267607699 AAGT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89824 Simple 587778938 ATTT . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89825 Simple 63751596 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89826 Simple 267607845 A . Likely pathogenic 3 5 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 23.91 2.4 Pathogenic 2 -89827 Simple 267607845 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89828 Simple 41552415 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89829 Simple 267607844 A . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.41100000000000003 4.5 Uncertain significance 0 -89830 Simple 748766 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89831 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89832 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89833 Simple 587778939 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89834 Simple 63751244 T . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89835 Simple 63751081 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89836 Simple 63750059 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89837 Simple 267607847 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89838 Simple 63751393 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89839 Simple 63751460 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89840 Simple 63750464 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89841 Simple 267607849 - . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89842 Simple 63750062 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.431 1.2 Uncertain significance 0 -89843 Simple 267607848 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89844 Simple 267607846 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89845 Simple 63751709 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89846 Simple 63751608 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89847 Simple 63751685 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89848 Simple 267607853 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89849 Simple 267607853 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89850 Simple 267607853 T . Likely pathogenic 3 2 Lynch syndrome II;Lynch syndrome 2013-09-05 5.3100000000000005 2.0 Likely pathogenic 0 -89851 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89852 Simple 267607856 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89853 Simple 267607851 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89854 Simple 267607850 A . Pathogenic 3 2 Lynch syndrome 2013-09-05 4.32 2.5 Likely pathogenic 2 -89855 Simple 587778940 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89856 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89857 Simple 63751657 A . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.62 0.8333333333333334 Pathogenic 0 -89858 Simple 63751657 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89859 Simple 267607854 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89860 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89861 Simple 267607852 G . Likely pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 5.3100000000000005 2.0 Likely pathogenic 0 -89862 Simple 267607852 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89863 Simple 587778941 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -3.531 2.0 Uncertain significance 0 -89864 Simple 267607857 C . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89865 Simple . . . Pathogenic 3 3 Lynch syndrome;not provided 2013-09-05 16.02 2.3333333333333335 Pathogenic 0 -89866 Simple . . . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -89867 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89868 Simple 567838745 C . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -5.931 2.3333333333333335 Likely benign 2 -89869 Simple 63751713 G . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 2.0 Uncertain significance 0 -89870 Simple 63751713 T . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.6666666666666667 Uncertain significance 0 -89871 Simple 63751616 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89872 Simple 587778942 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89873 Simple 587778943 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89874 Simple 63750309 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89875 Simple 267607865 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89876 Simple 63751176 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89877 Simple 63750587 A . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2013-09-05 2.469 1.6666666666666667 Uncertain significance 0 -89878 Simple 63749863 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89879 Simple 367543283 CC . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89880 Simple 587778944 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89881 Simple 587778945 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -89882 Simple 63750575 C . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -89883 Simple 63751486 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89884 Simple 63750016 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89885 Simple 63749979 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89886 Simple 63749868 - . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 28.62 1.2 Pathogenic 0 -89887 Simple 63750375 - . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -89888 Simple 63750035 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89889 Simple 63750604 A . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.62 1.75 Pathogenic 0 -89890 Simple 267607861 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89891 Simple 587778946 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89892 Simple 63750718 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89893 Simple 63750386 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89894 Simple 63751240 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89895 Simple 41295284 A . Likely benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -19.41 1.375 Benign/Likely benign 1 -89896 Simple 587778947 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89897 Simple 267607864 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89898 Simple 587778948 ACATACAT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89899 Simple 63750150 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89900 Simple 63750486 - . Likely pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 5.01 2.0 Likely pathogenic 0 -89901 Simple 63751428 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89902 Simple 63751428 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 20.22 2.5 Pathogenic 0 -89903 Simple 35001569 G . Uncertain significance 3 8 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 -24.831 2.0 Benign 3 -89904 Simple 35001569 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89906 Simple 63750449 C . Benign 3 7 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis 2013-09-05 -22.86 2.4285714285714284 Benign/Likely benign 1 -89907 Simple 63750449 G . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -20.01 1.1666666666666667 Benign/Likely benign 1 -89908 Simple 587778949 TTCTT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89909 Simple 267607866 C . Likely pathogenic 3 3 Lynch syndrome I;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-10-10 5.34 1.3333333333333333 Likely pathogenic 0 -89910 Simple 63749986 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89911 Simple 63750693 C . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -89912 Simple 587778950 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89913 Simple 587778951 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89914 Simple 63751415 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89915 Simple 587778952 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89916 Simple 63751594 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89917 Simple 63750152 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89918 Simple 63751214 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89919 Simple 63750846 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89920 Simple 63750850 A . Uncertain significance 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 5.769 2.0 Likely pathogenic 2 -89921 Simple 587778953 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89922 Simple 63751639 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89923 Simple 63750240 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89924 Simple 587778954 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89925 Simple 267607867 A . Likely pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 5.3100000000000005 2.0 Likely pathogenic 0 -89926 Simple 267607867 T . Likely pathogenic 3 3 Lynch syndrome;not provided 2013-09-05 8.31 2.0 Likely pathogenic 0 -89927 Simple 267607868 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89928 Simple 267607869 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89929 Simple 267607870 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89930 Simple 63751632 A . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -89931 Simple 2308316 G . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -3.231 2.0 Uncertain significance 0 -89932 Simple 267607871 G . Likely pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 12.81 2.25 Pathogenic/Likely pathogenic 1 -89933 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89934 Simple 587778955 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89935 Simple 63751892 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89936 Simple 587778956 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89937 Simple 63751270 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89938 Simple 587778957 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89939 Simple 63751047 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89940 Simple 63750825 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89941 Simple 63750469 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89942 Simple 587778958 GATTACCCCTTCTGGATTACCCCTTCTG . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -89943 Simple 587778959 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89944 Simple 587778960 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89945 Simple 63749792 T . Uncertain significance 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 5.199 2.0 Likely pathogenic 2 -89946 Simple 267607875 T . Uncertain significance 3 2 Lynch syndrome 2013-09-05 2.4690000000000003 3.0 Uncertain significance 0 -89947 Simple 63750952 G . Uncertain significance 3 8 Lynch syndrome I;not specified;not provided;Hereditary cancer-predisposing syndrome;Global developmental delay;Choreoathetosis;Aqueductal stenosis;Hereditary nonpolyposis colon cancer 2016-11-03 0.8700000000000001 0.25 Uncertain significance 0 -89948 Simple 63751255 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89949 Simple 587778961 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89950 Simple 587778962 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89951 Simple 587778963 G . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.501 3.0 Uncertain significance 0 -89952 Simple 63750109 A . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89953 Simple 63750610 T . Pathogenic 3 2 Turcot syndrome;Muir-Torré syndrome;Lynch syndrome II;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89954 Simple 281864938 - . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -89955 Simple 63751465 A . Likely pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 5.01 1.6666666666666667 Likely pathogenic 0 -89956 Simple 63751301 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89957 Simple 63751202 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89958 Simple 267607715 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89959 Simple 63750726 T . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89960 Simple 267607876 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89961 Simple 63750115 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89962 Simple 63751310 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.02 1.75 Pathogenic 0 -89963 Simple 63750131 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89964 Simple 63749900 A . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -7.131 1.0 Likely benign 2 -89965 Simple 63749900 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89966 Simple 63749900 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -89967 Simple 63751200 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89968 Simple 587778964 C . Likely pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 5.3100000000000005 2.0 Likely pathogenic 0 -89969 Simple 267607873 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89970 Simple 63751682 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89971 Simple 63751682 G . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.501 3.0 Uncertain significance 0 -89972 Simple 267607877 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89973 Simple 267607879 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89974 Simple 267607879 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89975 Simple 267607879 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89976 Simple 587778965 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89977 Simple 267607878 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89978 Simple 267607880 GG . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89979 Simple 63751662 A . Likely pathogenic 3 3 Lynch syndrome;not provided 2013-09-05 8.01 2.3333333333333335 Likely pathogenic 0 -89980 Simple 63751662 T . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 21.72 2.0 Pathogenic 0 -89981 Simple 61751642 T . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -23.310000000000002 2.1666666666666665 Benign/Likely benign 1 -89982 Simple 587778966 CC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89983 Simple 2241031 T . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -89984 Simple 267607881 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89985 Simple 267607884 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89986 Simple 267607884 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89987 Simple 267607883 G . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -89988 Simple 267607882 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -89989 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89990 Simple 267607887 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89991 Simple 63750639 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89992 Simple 63750206 A . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 31.62 2.0 Pathogenic 0 -89993 Simple 267607702 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89994 Simple 587778967 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89995 Simple 63750282 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89996 Simple 63750014 T . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -2.631 3.5 Uncertain significance 0 -89997 Simple 63750061 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -89998 Simple 63750740 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -89999 Simple 63750663 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90000 Simple 587778968 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90001 Simple 63750242 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -90002 Simple 63750242 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90003 Simple 587778969 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90004 Simple 587778970 A . Uncertain significance 3 3 Lynch syndrome;not specified 2013-09-05 -0.741 3.0 Uncertain significance 0 -90005 Simple 587778971 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 17.22 2.25 Pathogenic 0 -90006 Simple 63750809 C . Pathogenic 3 4 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2014-10-10 15.78 2.0 Pathogenic 0 -90007 Simple 63750809 G . Uncertain significance 3 5 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.431 1.6 Uncertain significance 0 -90008 Simple 63750281 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90009 Simple 63749867 A . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -90010 Simple 63749867 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -8.931000000000001 1.5 Benign/Likely benign 3 -90011 Simple 63750864 T . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.501 3.0 Uncertain significance 0 -90012 Simple 587778972 C . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.531 2.0 Uncertain significance 0 -90013 Simple 267607886 G . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.5 Uncertain significance 0 -90014 Simple 63751275 T . Pathogenic 3 6 Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 25.02 1.5 Pathogenic 0 -90015 Simple 63751704 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90016 Simple 63750702 G . Benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -31.32 2.0 Benign 0 -90017 Simple 63750420 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90018 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90019 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90020 Simple 267607718 A . Likely pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 17.91 2.0 Pathogenic 2 -90021 Simple 267607718 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90022 Simple 267607719 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90023 Simple 267607722 C . Likely pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 5.3100000000000005 2.5 Likely pathogenic 0 -90024 Simple 9852378 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90025 Simple 63750769 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90026 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90027 Simple 587778974 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90028 Simple . ACATAGTA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90029 Simple 267607717 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90030 Simple 587778973 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90031 Simple 267607716 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90032 Simple 267607720 G . Likely pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.71 2.0 Pathogenic/Likely pathogenic 1 -90033 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90034 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90035 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90036 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90037 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90038 Simple 63749995 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90039 Simple 63750859 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90040 Simple 587778975 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90041 Simple 63751652 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90042 Simple 63750114 A . Likely benign 3 7 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -19.38 1.7142857142857142 Benign/Likely benign 1 -90043 Simple 63750114 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90044 Simple 267607888 A . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -90045 Simple 267607888 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90046 Simple 267607888 T . Likely pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 11.31 2.0 Pathogenic/Likely pathogenic 1 -90047 Simple 587778976 G . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 2.469 1.6666666666666667 Uncertain significance 0 -90048 Simple 63750603 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90049 Simple 63750603 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90050 Simple 147984696 A . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -5.031 3.5 Likely benign 2 -90051 Simple 587778977 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90052 Simple 587778978 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90053 Simple 267607890 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90054 Simple 267607889 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90055 Simple 267607889 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90056 Simple 267607891 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90057 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90058 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90059 Simple 63751651 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90060 Simple 587778979 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90061 Simple 267607723 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90062 Simple 587778980 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90063 Simple 63749829 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90064 Simple 267607909 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90065 Simple 63750561 A . Pathogenic 3 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90066 Simple 63750499 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90067 Simple 63751642 - . Pathogenic 3 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90068 Simple 63751022 A . Pathogenic 3 2 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90069 Simple 587778981 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90070 Simple 587778982 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90071 Simple 587778983 C . Likely pathogenic 3 1 Lynch syndrome 2015-03-18 . 2.0 . 0 -90072 Simple 63750971 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90073 Simple 281864940 CACA . Pathogenic 3 1 Lynch syndrome I;Lynch syndrome 2013-09-05 . 4.0 . 0 -90074 Simple 281864940 ATGTGTTCCACA . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90075 Simple 587778984 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90076 Simple 587778985 G . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 2.0 Uncertain significance 0 -90077 Simple 63751075 TATAAATATAAA . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90078 Simple 587778986 G . Uncertain significance 3 5 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 1.0 Uncertain significance 0 -90079 Simple 63750484 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90080 Simple 63749875 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90081 Simple 138584384 T . Uncertain significance 3 4 Lynch syndrome;not specified 2013-09-05 -1.131 1.75 Uncertain significance 0 -90082 Simple 566928243 A . Uncertain significance 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -10.401 1.2857142857142858 Benign/Likely benign 3 -90083 Simple 267607898 - . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.02 1.5 Pathogenic 0 -90084 Simple 587778987 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90085 Simple 1800149 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90086 Simple 397514684 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90087 Simple 267607906 T . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -90088 Simple 267607903 AACAAACA . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -90089 Simple 587778988 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90090 Simple 267607885 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -4.101 1.8 Uncertain significance 0 -90091 Simple 587778989 AA . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90092 Simple 587778990 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90093 Simple 267607897 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90094 Simple 587778992 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90095 Simple 587778991 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90096 Simple 267607896 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90097 Simple 267607894 C . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 19.62 1.75 Pathogenic 0 -90098 Simple 267607893 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90099 Simple 267607893 G . Uncertain significance 3 3 Lynch syndrome;not provided 2013-09-05 8.469 2.3333333333333335 Pathogenic/Likely pathogenic 3 -90100 Simple 140195825 G . Likely benign 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -17.55 1.5 Benign/Likely benign 1 -90101 Simple 267607907 - . Pathogenic 3 5 Lynch syndrome I;Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-10-10 28.68 1.2 Pathogenic 0 -90102 Simple 267607901 AAAA . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 2.769 2.0 Uncertain significance 0 -90103 Simple 587778993 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90104 Simple 267607904 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90105 Simple 267607900 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90106 Simple 267607895 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90107 Simple 267607892 TGTTTGTT . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 7.62 2.0 Likely pathogenic 2 -90108 Simple 587778995 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90109 Simple 267607892 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90110 Simple 63749859 C . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90111 Simple 587778996 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90112 Simple 63750437 A . Pathogenic 3 5 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 25.02 1.4 Pathogenic 0 -90113 Simple 63750052 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90114 Simple 587778997 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90115 Simple 63749990 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90116 Simple 587778998 G . Pathogenic 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-10-10 16.98 2.1666666666666665 Pathogenic 0 -90117 Simple 267607729 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90118 Simple 63750005 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90119 Simple 587778999 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90120 Simple 63750641 G . Likely pathogenic 3 3 Lynch syndrome 2013-09-05 3.81 3.3333333333333335 Uncertain significance 2 -90121 Simple 63751421 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90122 Simple 587779000 T . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -90123 Simple 267607728 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90124 Simple 11541859 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90125 Simple 63750133 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90126 Simple 41295282 G . Uncertain significance 3 5 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -12.501 1.6 Benign/Likely benign 3 -90127 Simple 63751070 G . Uncertain significance 3 5 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.341 1.8 Uncertain significance 0 -90128 Simple 267607725 A . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.531 2.0 Uncertain significance 0 -90129 Simple 267607725 C . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.501 3.0 Uncertain significance 0 -90130 Simple 63751691 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90131 Simple 267607730 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90132 Simple 63750266 A . Uncertain significance 3 8 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -2.211 1.625 Uncertain significance 0 -90133 Simple 63750266 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90134 Simple 111052004 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90135 Simple 111052004 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90136 Simple 111052004 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90137 Simple 267607726 A . Likely pathogenic 3 3 Lynch syndrome I;not specified;not provided 2014-10-10 5.4 2.3333333333333335 Likely pathogenic 0 -90138 Simple 267607727 A . Uncertain significance 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 4.869 3.0 Likely pathogenic 2 -90139 Simple 267607727 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90140 Simple 4647220 G . Likely benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -32.91 1.875 Benign 2 -90141 Simple 63750453 A . Uncertain significance 3 4 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 4.569 2.5 Likely pathogenic 2 -90142 Simple 267607734 A . Pathogenic 3 2 Lynch syndrome I;Hereditary nonpolyposis colon cancer 2015-11-24 11.940000000000001 1.0 Pathogenic/Likely pathogenic 1 -90143 Simple 267607738 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90144 Simple 267607731 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90145 Simple 267607737 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90146 Simple 4647222 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90147 Simple 267607733 G . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 1.2 Uncertain significance 0 -90148 Simple 267607735 A . Pathogenic 3 1 Lynch syndrome II;Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -90149 Simple 587779002 G . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -3.231 2.5 Uncertain significance 0 -90150 Simple 63751665 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90151 Simple 63751665 T . Likely pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 17.61 1.5 Pathogenic 2 -90152 Simple 1540354 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90153 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90154 Simple 267607736 C . Likely pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 8.31 2.0 Likely pathogenic 0 -90155 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90156 Simple 139620056 A . Benign 3 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -7.62 2.0 Likely benign 2 -90157 Simple 267607732 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90158 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90159 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90160 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90161 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90162 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90163 Simple 587779003 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90164 Simple 63750297 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90165 Simple 63750297 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90166 Simple 63749816 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90167 Simple 63750507 G . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -90168 Simple 587779004 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90169 Simple 63749803 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90170 Simple 587779005 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90171 Simple 63750539 T . Likely pathogenic 3 3 Lynch syndrome 2013-09-05 4.41 2.6666666666666665 Likely pathogenic 0 -90172 Simple 63750559 A . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.771 2.3333333333333335 Uncertain significance 0 -90173 Simple 63750645 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90174 Simple 63750906 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -90175 Simple 267607739 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90176 Simple 63750465 A . Uncertain significance 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.7309999999999999 1.1666666666666667 Uncertain significance 0 -90177 Simple 63750465 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90178 Simple 63750781 G . Uncertain significance 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 11.769 1.75 Pathogenic/Likely pathogenic 3 -90179 Simple 63750658 AAAA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90180 Simple 267607740 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90181 Simple 63750542 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90182 Simple 587779006 - . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90183 Simple 1800144 G . Likely benign 3 7 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -26.01 2.142857142857143 Benign 2 -90184 Simple 200076893 A . Uncertain significance 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.7309999999999999 1.3333333333333333 Uncertain significance 0 -90185 Simple 267607741 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90186 Simple 63751606 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90187 Simple 63751607 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90188 Simple 587779007 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -90189 Simple 587779008 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90190 Simple 63750081 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90191 Simple 267607745 A . Likely pathogenic 3 4 Lynch syndrome;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 14.91 2.5 Pathogenic/Likely pathogenic 1 -90192 Simple 267607742 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90193 Simple 267607742 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90194 Simple 63751595 A . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 5.01 3.0 Likely pathogenic 0 -90195 Simple 267607743 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90196 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90197 Simple 368847278 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90198 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90199 Simple 63750866 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90200 Simple 267607746 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90201 Simple 63750865 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90202 Simple 63751710 GTT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90203 Simple 587779010 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90204 Simple 587779009 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90205 Simple 587779011 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90206 Simple 587779012 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90207 Simple 63750057 CCCA . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90208 Simple 63749818 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90209 Simple 63751124 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90210 Simple 587779013 GAGA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90211 Simple 72481822 A . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 8.769 1.6666666666666667 Pathogenic/Likely pathogenic 3 -90212 Simple 63751052 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90213 Simple 587779014 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90214 Simple 587779015 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90215 Simple 63750977 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90216 Simple 63751045 CC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90217 Simple 63749820 T . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90218 Simple 267607747 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90219 Simple 63751302 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90220 Simple 63750638 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.0 Uncertain significance 0 -90221 Simple 63751131 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90222 Simple 587779016 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90223 Simple 267607750 T . Likely pathogenic 3 4 Lynch syndrome II;Lynch syndrome;not provided 2013-09-05 16.11 2.0 Pathogenic 2 -90224 Simple 267607751 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90225 Simple 587779017 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90226 Simple 267607748 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90227 Simple 4234259 G . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -90228 Simple 267607752 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90229 Simple 369521379 A . Likely pathogenic 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 1.1400000000000001 1.2 Uncertain significance 2 -90230 Simple 267607749 G . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 5.469 1.0 Likely pathogenic 2 -90231 Simple 193922370 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90232 Simple 267607753 G . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 5.01 3.0 Likely pathogenic 0 -90233 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90234 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90235 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90236 Simple 4647255 C . Benign 3 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -10.02 3.0 Benign/Likely benign 1 -90237 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90238 Simple . . . Uncertain significance 3 2 Lynch syndrome 2013-09-05 5.769 2.5 Likely pathogenic 2 -90239 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90240 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90241 Simple 63750891 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90242 Simple 267607758 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90243 Simple 4647256 T . Benign 3 7 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-10-10 -33.480000000000004 2.2857142857142856 Benign 0 -90244 Simple 63749924 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.801 1.5 Likely benign 2 -90245 Simple 267607754 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90246 Simple 267607755 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90247 Simple 587779018 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90248 Simple 267607757 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90249 Simple 267607756 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90250 Simple 63749959 AA . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 15.42 2.6666666666666665 Pathogenic 0 -90251 Simple 63750834 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -90252 Simple 63749944 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90253 Simple 587779019 GA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90254 Simple 63749804 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90255 Simple 63750903 AT . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90256 Simple 63750903 CT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90257 Simple 63750102 G . Uncertain significance 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.7309999999999999 1.0 Uncertain significance 0 -90258 Simple 63750211 G . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 16.02 2.3333333333333335 Pathogenic 0 -90259 Simple 267607765 A . Likely pathogenic 3 2 Lynch syndrome 2013-09-05 8.31 2.5 Likely pathogenic 0 -90260 Simple 267607760 G . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -90261 Simple 267607761 G . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90262 Simple 267607763 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90263 Simple 267607764 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90264 Simple 587779021 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90265 Simple 587779022 A . Likely pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 8.31 2.5 Likely pathogenic 0 -90266 Simple 267607759 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90267 Simple 267607759 G . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -90268 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90269 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90270 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90271 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90272 Simple 63750515 G . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 7.32 3.0 Likely pathogenic 2 -90273 Simple 63751050 T . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.231 2.0 Uncertain significance 0 -90274 Simple 63750648 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 5.799 2.4 Likely pathogenic 2 -90275 Simple 267607766 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90276 Simple 587779023 . . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90277 Simple 63751021 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90278 Simple 63751480 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90279 Simple 63750500 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90280 Simple 267607772 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90281 Simple 267607773 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90282 Simple 587779024 A . Likely pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 5.3100000000000005 2.0 Likely pathogenic 0 -90283 Simple 267607769 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90284 Simple 587779025 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90285 Simple 267607768 A . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 32.82 1.8333333333333333 Pathogenic 0 -90286 Simple 267607768 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90287 Simple 63751653 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90288 Simple 267607770 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90290 Simple 587779027 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90291 Simple 267607767 G . Pathogenic 3 6 Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.62 1.1666666666666667 Pathogenic 0 -90292 Simple 587779028 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90293 Simple 63749887 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -4.131 1.6 Uncertain significance 0 -90294 Simple 63751637 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90295 Simple 587779029 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90296 Simple 63750581 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90297 Simple 63750706 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90298 Simple 63750706 T . Pathogenic 3 1 Lynch syndrome I 2015-11-24 . 2.0 . 0 -90299 Simple 63750908 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90300 Simple 2308317 T . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -90301 Simple 267607775 G . Uncertain significance 3 3 Lynch syndrome;not specified 2013-09-05 -0.801 2.0 Uncertain significance 0 -90302 Simple 267607776 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90303 Simple 4986984 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -14.631 1.2 Benign/Likely benign 3 -90304 Simple 63750380 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90305 Simple 1799977 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90306 Simple 41295280 C . Uncertain significance 3 6 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -10.101 1.1666666666666667 Benign/Likely benign 3 -90307 Simple 63751286 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -90308 Simple 63750385 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90309 Simple 587779031 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90310 Simple 267607774 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90311 Simple 267607778 A . Likely pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 8.31 2.0 Likely pathogenic 0 -90312 Simple 267607778 T . Pathogenic 3 3 Lynch syndrome;not provided 2013-09-05 13.02 2.3333333333333335 Pathogenic/Likely pathogenic 1 -90313 Simple 267607779 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90314 Simple 267607780 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90315 Simple 267607780 G . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.02 1.75 Pathogenic 0 -90316 Simple 267607781 TT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90317 Simple 587779034 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90318 Simple 63751711 A . Pathogenic 3 7 Lynch syndrome II;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 40.62 1.1428571428571428 Pathogenic 0 -90319 Simple 63751711 T . Likely pathogenic 3 5 Lynch syndrome;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 18.21 2.2 Pathogenic 2 -90320 Simple 587779032 AT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90321 Simple 587779033 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90322 Simple 267607784 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90323 Simple 267607784 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90324 Simple 587779035 G . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.31 2.0 Likely pathogenic 0 -90325 Simple 267607785 A . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.531 2.0 Uncertain significance 0 -90326 Simple 267607783 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90327 Simple 587779036 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90328 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90329 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90330 Simple 63750823 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90331 Simple 63750823 T . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90332 Simple 63750822 - . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 14.22 3.3333333333333335 Pathogenic/Likely pathogenic 1 -90333 Simple 63751659 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90334 Simple 63750764 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90335 Simple 63750555 T . Uncertain significance 3 2 Lynch syndrome II;Lynch syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -90336 Simple 63750696 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90337 Simple 63751396 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.82 4.0 Pathogenic/Likely pathogenic 1 -90338 Simple 267607787 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90339 Simple 63750303 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 7.62 2.0 Likely pathogenic 2 -90340 Simple 63750303 T . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.531 2.0 Uncertain significance 0 -90341 Simple 587779037 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90342 Simple 63750948 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90343 Simple 63749838 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90344 Simple 63749839 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90345 Simple 63750819 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90346 Simple 63750514 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90347 Simple 63749827 T . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90348 Simple 63749828 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90349 Simple 63750642 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -3.831 1.5 Uncertain significance 0 -90350 Simple 63751283 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90351 Simple 587779038 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90352 Simple 587779039 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90353 Simple 104894997 C . Uncertain significance 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -90354 Simple 587779040 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90355 Simple 182733777 G . Benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -31.02 2.142857142857143 Benign 0 -90356 Simple 267607789 A . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.02 1.4 Pathogenic 0 -90357 Simple 267607789 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90358 Simple 267607798 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90359 Simple 267607790 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90360 Simple 267607790 C . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.82 4.0 Pathogenic/Likely pathogenic 1 -90361 Simple 267607791 TT . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90362 Simple 267607792 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90363 Simple 267607786 G . Uncertain significance 3 3 Lynch syndrome 2013-09-05 6.969 3.0 Likely pathogenic 2 -90364 Simple 267607771 T . Pathogenic 3 1 Lynch syndrome I 2014-10-10 . 3.0 . 0 -90365 Simple 267607796 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90366 Simple 1558528 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90367 Simple 63751597 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.0 Uncertain significance 0 -90368 Simple 4647269 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90369 Simple 267607795 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90370 Simple 267607795 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90371 Simple 267607797 - . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90372 Simple 267607794 G . Likely pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 17.31 1.25 Pathogenic 2 -90373 Simple 587779041 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90374 Simple 267607788 G . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 7.62 2.5 Likely pathogenic 2 -90375 Simple 587779042 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90376 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90377 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90378 Simple 63751664 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90379 Simple 267607799 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90380 Simple 63751194 A . Likely pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 12.51 3.0 Pathogenic/Likely pathogenic 1 -90381 Simple 63751448 A . Uncertain significance 3 7 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.941 1.4285714285714286 Uncertain significance 0 -90382 Simple 63750650 G . Benign 3 7 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -25.02 1.4285714285714286 Benign 0 -90383 Simple 267607801 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90384 Simple 587779043 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90385 Simple 63751252 G . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -90386 Simple 63751439 AAGCAAGC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90387 Simple 587779044 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90388 Simple 63750792 T . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 13.32 2.0 Pathogenic/Likely pathogenic 1 -90389 Simple 63750938 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90390 Simple 63749950 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90391 Simple 63750360 G . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90392 Simple 587779045 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90393 Simple 63750889 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90394 Simple 63750395 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90395 Simple 63750212 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90396 Simple 63750034 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90397 Simple 63750656 T . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 5.469 1.6666666666666667 Likely pathogenic 2 -90398 Simple 587779046 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90399 Simple 63750814 AA . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90400 Simple 63750421 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90401 Simple 587779047 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90402 Simple 587779048 ACAC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90403 Simple 63750216 G . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90404 Simple 63750517 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90405 Simple 587779049 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90406 Simple 63751707 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90407 Simple 63751707 T . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 1 -90408 Simple 63751598 C . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -90409 Simple 63751598 G . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 14.22 3.3333333333333335 Pathogenic/Likely pathogenic 1 -90410 Simple 372817491 G . Uncertain significance 3 3 Lynch syndrome II;Lynch syndrome;not specified 2013-09-05 -6.231 1.6666666666666667 Likely benign 2 -90411 Simple 267607806 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90412 Simple 370283452 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90413 Simple 267607803 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 5.769 2.0 Likely pathogenic 2 -90414 Simple 267607777 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90415 Simple 63750144 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90416 Simple 63750144 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90417 Simple 587779050 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90418 Simple 267607804 - . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -23.331 2.6666666666666665 Benign/Likely benign 3 -90419 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90420 Simple 201594027 A . Likely benign 3 1 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 . 4.0 . 0 -90421 Simple 267607805 G . Likely pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.71 2.25 Pathogenic/Likely pathogenic 1 -90422 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90423 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90424 Simple 267607802 T . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -19.71 1.1666666666666667 Benign/Likely benign 1 -90425 Simple 104894999 C . Benign 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -90426 Simple 63751620 TCCTGACAGTTTTCCTGACAGTTT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90427 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90428 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90429 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90430 Simple 63750547 G . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90431 Simple 63751620 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90432 Simple 267607809 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90433 Simple 63750736 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90434 Simple 63750736 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90435 Simple 63750489 T . Pathogenic 3 2 Lynch syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -90436 Simple 587779052 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90437 Simple 267607813 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90438 Simple 63750993 G . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.531 2.5 Uncertain significance 0 -90439 Simple 63750993 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90440 Simple 587779053 . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90441 Simple 587779054 A . Pathogenic 3 2 Lynch syndrome I;Hereditary nonpolyposis colon cancer 2014-10-10 4.98 1.5 Likely pathogenic 2 -90442 Simple 63749994 TG . Uncertain significance 3 7 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -7.401 1.2857142857142858 Likely benign 2 -90443 Simple 63750962 GCGC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90444 Simple 267607808 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.401 1.4 Uncertain significance 0 -90445 Simple 63749896 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -11.931000000000001 1.4 Benign/Likely benign 3 -90446 Simple 587779055 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90447 Simple 587779056 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90448 Simple 63750319 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90449 Simple 63751259 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90450 Simple 267607814 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90451 Simple 63749926 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90452 Simple 63750796 A . Uncertain significance 3 8 Lynch syndrome I;Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -5.001 1.125 Likely benign 2 -90453 Simple 63750796 T . Pathogenic 3 3 Lynch syndrome;not provided 2013-09-05 16.62 2.0 Pathogenic 0 -90454 Simple 267607811 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -3.231 2.0 Uncertain significance 0 -90455 Simple 63750286 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90456 Simple 63750268 A . Likely benign 3 7 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -14.61 0.8571428571428571 Benign/Likely benign 1 -90457 Simple 587779057 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90458 Simple 587779058 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -90459 Simple 267607810 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90460 Simple 63751197 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90461 Simple 63750533 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90462 Simple 63750745 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90463 Haplotype . TG ['.|TG', '.|CA'] Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90463 Haplotype . CA ['.|TG', '.|CA'] Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90464 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90465 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90466 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90467 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90468 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90469 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90470 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90471 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90472 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90473 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90474 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90475 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90476 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90477 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90478 Simple 587779059 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90479 Simple 587779060 T . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90480 Simple 17225060 G . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90481 Simple 6544991 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90482 Simple 6720549 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90483 Simple 587779062 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90484 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90485 Simple 2303425 C . Benign 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -12.42 2.6666666666666665 Benign/Likely benign 1 -90486 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90487 Simple 587779115 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90488 Simple 138068023 C . Uncertain significance 3 4 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -6.231 1.75 Likely benign 2 -90489 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90490 Simple 1863332 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90491 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90492 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90493 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90494 Simple 587779182 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90495 Simple 587779187 AA . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90496 Simple . . . Pathogenic 3 1 Lynch syndrome I;Lynch syndrome 2013-09-05 . 4.0 . 0 -90497 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90498 Simple 587779063 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90499 Simple 63750602 T . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.501 3.0 Uncertain significance 0 -90500 Simple 63751062 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90501 Simple 587779064 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90502 Simple 63750778 T . Pathogenic 3 3 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 15.42 2.6666666666666665 Pathogenic 0 -90503 Simple 63751004 A . Uncertain significance 3 3 Lynch syndrome;not specified 2013-09-05 -0.831 2.0 Uncertain significance 0 -90504 Simple 587779065 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90505 Simple 63750703 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90506 Simple 587779066 AA . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90507 Simple 63751147 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90508 Simple 63749879 A . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -90509 Simple 63751027 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90510 Simple 63750396 A . Pathogenic 3 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90511 Simple 63751483 TTTT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90512 Simple 267607939 G . Uncertain significance 3 5 Kidney cancer;Lynch syndrome;not specified;Renal cell carcinoma;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.131 0.8 Uncertain significance 0 -90513 Simple 587779067 G . Pathogenic 3 3 Lynch syndrome I;Hereditary nonpolyposis colon cancer 2014-10-10 14.280000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 1 -90514 Simple 587779067 T . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 1 -90515 Simple 587779068 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90516 Simple 587779069 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90517 Simple 587779070 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90518 Simple 587779071 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90519 Simple 267607940 A . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.75 Pathogenic 0 -90520 Simple 267607940 T . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 6.51 4.0 Likely pathogenic 0 -90521 Simple 4952887 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90522 Simple 267607941 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90523 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90524 Simple 267607944 C . Likely pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 11.31 1.6666666666666667 Pathogenic/Likely pathogenic 1 -90525 Simple 267607944 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90526 Simple 13425206 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90527 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90528 Simple 267607943 C . Pathogenic 3 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2014-10-10 10.08 3.0 Pathogenic/Likely pathogenic 1 -90529 Simple 267607943 G . Likely pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 11.31 1.6666666666666667 Pathogenic/Likely pathogenic 1 -90530 Simple 267607943 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90531 Simple 267607942 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90532 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90533 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90534 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90535 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90536 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90537 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90538 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90539 Simple 63751617 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90540 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90541 Simple 587779072 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -90542 Simple 63751699 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90543 Simple 267607693 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90544 Simple 587779073 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90545 Simple 63749814 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90546 Simple 63751056 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90547 Simple 63750516 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90548 Simple 63750558 T . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 15.42 2.6666666666666665 Pathogenic 0 -90549 Simple 63751219 TATA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90550 Simple 63750267 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90551 Simple 63750039 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90552 Simple 63750496 CC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90553 Simple 267607947 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.101 1.5 Uncertain significance 0 -90554 Simple 63749849 T . Pathogenic 3 5 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.62 1.0 Pathogenic 0 -90555 Simple 587779074 G . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -90556 Simple 564736113 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90557 Simple 587779075 T . Pathogenic 3 7 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 39.42 1.4285714285714286 Pathogenic 0 -90558 Simple 63750302 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90559 Simple 63750611 T . Pathogenic 3 2 Lynch syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -90560 Simple 63751260 A . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -4.071 1.8 Uncertain significance 0 -90561 Simple 63751169 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90562 Simple 63749850 CACA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90563 Simple 63750984 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90564 Simple 63750586 AA . Pathogenic 3 3 Lynch syndrome I;Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -90565 Simple 63751412 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -90566 Simple 63751413 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90567 Simple 63751271 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90568 Simple 63751192 CGACCGAC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90569 Simple 146567853 A . Uncertain significance 3 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.801 1.4 Likely benign 2 -90570 Simple 63750813 G . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2013-09-05 -5.931 2.3333333333333335 Likely benign 2 -90571 Simple 63750813 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90572 Simple 587779076 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90573 Simple 63751142 TT . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.02 2.0 Pathogenic 0 -90574 Simple 63750379 G . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.401 1.4 Uncertain significance 0 -90575 Simple 63750132 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90576 Simple 151244108 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90577 Simple 63750086 - . Pathogenic 3 9 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 50.82 1.2222222222222223 Pathogenic 0 -90578 Simple 587779077 . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90579 Simple 587779078 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -90580 Simple 63751206 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90581 Simple 587779079 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90582 Simple 63751059 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90583 Simple 63750006 A . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -20.01 1.3333333333333333 Benign/Likely benign 1 -90584 Simple 63750006 T . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -90585 Simple 63750228 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90586 Simple 587779080 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90587 Simple 63751712 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90588 Simple 63751667 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90589 Simple 63751650 G . Uncertain significance 3 7 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -10.401 1.4285714285714286 Benign/Likely benign 3 -90590 Simple 267607950 A . Pathogenic 3 5 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 23.82 2.0 Pathogenic 0 -90591 Simple 267607950 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90592 Simple 267607950 T . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 6.51 4.0 Likely pathogenic 0 -90593 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90594 Simple 587779081 TT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90595 Simple 267607953 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90596 Simple 148018406 A . Likely benign 3 2 Lynch syndrome I;Lynch syndrome 2013-09-05 -5.01 3.0 Likely benign 0 -90597 Simple 17217961 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90598 Simple 3771274 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90599 Simple 1981929 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90600 Simple 267607951 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90601 Simple 267607948 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90602 Simple 267607948 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90603 Simple 1981928 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90604 Simple 267607949 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90605 Simple 267607949 G . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90606 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90607 Simple 17036577 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90608 Simple 13408008 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90609 Simple 7607312 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90610 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90611 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90612 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90613 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90614 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90615 Simple . . . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -90616 Simple 63751693 T . Pathogenic 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 20.82 2.5 Pathogenic 0 -90617 Simple 63751626 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90618 Simple 63751646 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90619 Simple 17217723 G . Uncertain significance 3 7 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.731 1.0 Likely benign 2 -90620 Simple 63751315 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90621 Simple 63750894 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90622 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90623 Simple 587779082 - . Uncertain significance 3 4 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 1.8690000000000002 1.75 Uncertain significance 0 -90624 Simple 587779083 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90625 Simple 587779084 C . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 7.02 3.5 Likely pathogenic 2 -90626 Simple 63749931 CC . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90627 Simple 587779085 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90628 Simple 587779086 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 0.8 Uncertain significance 0 -90629 Simple 63750807 AA . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.82 4.0 Pathogenic/Likely pathogenic 1 -90630 Simple 63751217 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90631 Simple 267607696 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90632 Simple 63749920 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90633 Simple 267607955 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90634 Simple 63750285 T . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -2.931 3.0 Uncertain significance 0 -90635 Simple 63750957 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90636 Simple 267607954 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90637 Simple 63751212 G . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -3.531 2.0 Uncertain significance 0 -90638 Simple 63750697 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90639 Simple 63751482 . . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -90640 Simple 63750521 G . Pathogenic 3 3 Lynch syndrome;not provided 2013-09-05 14.219999999999999 3.3333333333333335 Pathogenic/Likely pathogenic 1 -90641 Simple 267607957 A . Likely pathogenic 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 19.11 2.0 Pathogenic 2 -90642 Simple 267607957 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90643 Simple 267607957 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90644 Simple 267607958 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90645 Simple 267607956 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90646 Simple 6741393 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90647 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90648 Simple 587779087 A . Pathogenic 3 1 Lynch syndrome I;Hereditary nonpolyposis colon cancer 2014-10-10 . 3.0 . 0 -90649 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90650 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90651 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90652 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90653 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90654 Simple 33946261 G . Uncertain significance 3 6 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer;Hereditary nonpolyposis colon cancer 2015-11-24 -4.497 0.6666666666666666 Likely benign 2 -90655 Simple 587779088 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90656 Simple 587779089 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90657 Simple 63750384 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -90658 Simple 267607959 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90659 Simple 63751403 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90660 Simple 63751403 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis 2013-09-05 -1.131 1.75 Uncertain significance 0 -90661 Simple 587779090 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90662 Simple 63750615 T . Pathogenic 3 4 Lynch syndrome;not specified;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 22.02 1.75 Pathogenic 0 -90663 Simple 587779091 TCTC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90664 Simple 587779092 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90665 Simple 63750068 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90666 Simple 63750436 AA . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 15.42 2.6666666666666665 Pathogenic 0 -90667 Simple 267607961 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90668 Simple 63749947 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90669 Simple 63750161 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90670 Simple 587776530 - . Pathogenic 3 3 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.02 2.3333333333333335 Pathogenic 0 -90671 Simple 63750986 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90672 Simple 63750334 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90673 Simple 63750644 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90674 Simple 35107951 G . Uncertain significance 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.401 1.1666666666666667 Likely benign 2 -90675 Simple 63750335 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.431 1.0 Uncertain significance 0 -90676 Simple 63750583 CT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90677 Simple 63750936 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90678 Simple 587779093 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90679 Simple 267607960 G . Likely benign 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -18.21 2.4 Benign/Likely benign 1 -90680 Simple 63750362 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90681 Simple 63749963 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90682 Simple 56170584 A . Uncertain significance 3 7 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.971 1.1428571428571428 Uncertain significance 0 -90683 Simple 587779094 CC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90684 Simple 587779095 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -90685 Simple 63751600 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90686 Simple 587779096 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90687 Simple 3771281 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90688 Simple 267607962 G . Pathogenic 3 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90689 Simple 3732182 T . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -90690 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90691 Simple 63750492 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90692 Simple 267607968 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90693 Simple 587779097 T . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90694 Simple 373564353 T . Uncertain significance 3 4 Lynch syndrome I;Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.25 Uncertain significance 0 -90695 Simple 63750352 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90696 Simple 63750780 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90697 Simple 63749930 - . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90698 Simple 63750330 C . Uncertain significance 3 7 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -21.531 2.142857142857143 Benign/Likely benign 3 -90699 Simple 63750224 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90700 Simple 267607966 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90701 Simple 63751207 T . Uncertain significance 3 3 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2015-03-20 -0.837 2.0 Uncertain significance 0 -90702 Simple 63750094 - . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90703 Simple 63750738 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -90704 Simple 63750845 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90705 Simple 63750510 . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90706 Simple 63750104 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90707 Simple 63750029 T . Uncertain significance 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.701 1.1666666666666667 Uncertain significance 0 -90708 Simple 267607965 A . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90709 Simple 587779098 T . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -2.931 3.0 Uncertain significance 0 -90710 Simple 63750675 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90711 Simple 63750662 GAGA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90712 Simple 63750337 - . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.82 4.0 Pathogenic/Likely pathogenic 1 -90713 Simple 267607967 G . Uncertain significance 3 3 Lynch syndrome I;Lynch syndrome;not specified 2013-09-05 -0.801 2.3333333333333335 Uncertain significance 0 -90714 Simple 63750538 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.071 1.75 Uncertain significance 0 -90715 Simple 63750838 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -90716 Simple 63751656 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90717 Simple 63751656 G . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 4.32 2.0 Likely pathogenic 2 -90718 Simple 63751656 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90719 Simple 267607969 A . Likely pathogenic 3 2 Lynch syndrome 2013-09-05 8.31 2.5 Likely pathogenic 0 -90720 Simple 267607969 T . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.31 2.0 Likely pathogenic 0 -90721 Simple 267607972 C . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 7.869 3.0 Likely pathogenic 2 -90722 Simple 267607973 T . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90723 Simple 10183143 C . Benign 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -90724 Simple 63750597 C . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90725 Simple 587779099 GG . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90726 Simple 376235435 C . Uncertain significance 3 3 Lynch syndrome I;Lynch syndrome;not specified 2013-09-05 -6.231 1.6666666666666667 Likely benign 2 -90727 Simple 267607970 A . Pathogenic 3 2 Turcot syndrome;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90728 Simple 267607971 G . Likely pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 8.31 2.0 Likely pathogenic 0 -90729 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90730 Simple 17218356 A . Benign 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -21.42 1.8 Benign/Likely benign 1 -90731 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90732 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90733 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90734 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90735 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90736 Simple 63751120 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90737 Simple 587779101 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90738 Simple 267607694 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90739 Simple 587779100 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90740 Simple 63750432 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90741 Simple 587779102 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90742 Simple 63750087 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90743 Simple 63750633 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90744 Simple 200056411 C . Likely benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -26.61 2.0 Benign 2 -90745 Simple 63750328 A . Uncertain significance 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.701 1.1666666666666667 Uncertain significance 0 -90746 Simple 63750406 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90747 Simple 63750997 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90748 Simple 587779103 TT . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90749 Simple 63751054 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90750 Simple 55778204 G . Benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -19.62 1.0 Benign/Likely benign 1 -90751 Simple 587779104 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90752 Simple 63750737 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90753 Simple 63751149 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90754 Simple 267607913 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90755 Simple 63750474 - . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.02 1.75 Pathogenic 0 -90756 Simple 587779105 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90757 Simple 281864941 GAGA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90758 Simple 587779106 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90759 Simple 267607974 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90760 Simple 63751298 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90761 Simple 63751299 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90762 Simple 587779107 C . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -90763 Simple 63751411 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.0 Pathogenic 0 -90764 Simple 201118107 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90765 Simple 63750112 C . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90766 Simple 587779108 A . Likely pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 11.31 1.6666666666666667 Pathogenic/Likely pathogenic 1 -90767 Simple 267607976 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.82 4.0 Pathogenic/Likely pathogenic 1 -90768 Simple 267607976 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90769 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90770 Simple 17036614 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90771 Simple 63751140 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90772 Simple 587779109 GGAGGA . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90773 Simple 587779110 A . Likely pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 14.31 1.25 Pathogenic/Likely pathogenic 1 -90774 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90775 Simple 17218439 A . Benign 3 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -10.02 3.0 Benign/Likely benign 1 -90776 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90777 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90778 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90779 Simple 63750103 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90780 Simple 63750844 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90781 Simple 267607977 A . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90782 Simple 371614039 G . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.431 0.8333333333333334 Likely benign 2 -90783 Simple 63750200 T . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90784 Simple 63750113 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90785 Simple 267607691 CT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90787 Simple 587779111 AA . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.82 4.0 Pathogenic/Likely pathogenic 1 -90788 Simple 63750495 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90789 Simple 63751236 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90790 Simple 63750657 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90791 Simple 267607985 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90792 Simple 63751129 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90793 Simple 267607978 - . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 2.769 2.0 Uncertain significance 0 -90794 Simple 63750951 T . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 27.42 2.0 Pathogenic 0 -90795 Simple 63750665 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90796 Simple 587779112 - . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -90797 Simple 267607980 A . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.531 2.5 Uncertain significance 0 -90798 Simple 587779113 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90799 Simple 63750493 G . Pathogenic 3 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90800 Simple 267607984 - . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90801 Simple 63749982 G . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.501 3.0 Uncertain significance 0 -90802 Simple 63750312 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90803 Simple 63750806 GTGT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90804 Simple 63750508 T . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.02 1.0 Pathogenic 0 -90805 Simple 63750280 A . Uncertain significance 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 2.529 2.3333333333333335 Uncertain significance 0 -90806 Simple 281864942 GGGG . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -90807 Simple 63750669 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90808 Simple 63750160 - . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 15.42 2.6666666666666665 Pathogenic 0 -90809 Simple 281864942 GG . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90810 Simple 63750626 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90811 Simple 63750203 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90812 Simple 61756468 G . Benign 3 8 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -31.32 2.0 Benign 0 -90813 Simple 63750960 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90814 Simple 587779114 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90815 Simple 63750279 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -90816 Simple 63750893 - . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 2.0 Pathogenic 0 -90817 Simple 267607981 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90818 Simple 587779116 G . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.0 Uncertain significance 0 -90819 Simple 1800152 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90820 Simple 63749946 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90821 Simple 587779117 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90822 Simple 267607982 G . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.25 Uncertain significance 0 -90823 Simple 267607983 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90824 Simple 587779118 ACTTACTT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90825 Simple 63751317 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90826 Simple 587779119 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90827 Simple 587779120 - . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -90828 Simple 587779121 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90829 Simple 587779122 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90830 Simple 63749929 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90831 Simple 63751700 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90832 Simple 267607911 C . Uncertain significance 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.701 1.0 Uncertain significance 0 -90833 Simple 267607911 G . Uncertain significance 3 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.341 1.8 Uncertain significance 0 -90834 Simple 267607911 T . Uncertain significance 3 2 Lynch syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -90835 Simple 267607986 A . Likely pathogenic 3 2 Lynch syndrome I;Lynch syndrome 2013-09-05 5.91 4.5 Likely pathogenic 0 -90836 Simple 267607986 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90837 Simple 267607986 T . Likely pathogenic 3 2 Lynch syndrome 2013-09-05 7.109999999999999 3.5 Likely pathogenic 0 -90838 Simple 267607989 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90839 Simple 267607987 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90840 Simple 587779123 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90841 Simple 587779124 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90842 Simple 587779125 - . Uncertain significance 3 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 2.769 2.5 Uncertain significance 0 -90843 Simple 267607992 AA . Likely benign 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -22.11 1.8333333333333333 Benign/Likely benign 1 -90844 Simple 63751668 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90845 Simple 267607988 C . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 7.710000000000001 3.0 Likely pathogenic 0 -90846 Simple 2059520 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90847 Simple 267607991 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90848 Simple 587779126 TTAATTAA . Uncertain significance 3 1 Lynch syndrome;not specified 2013-09-05 . 4.0 . 0 -90849 Simple 267607990 A . Uncertain significance 3 1 Turcot syndrome;Lynch syndrome 2013-09-05 . 4.0 . 0 -90850 Simple 2303428 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90851 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90852 Simple 63751640 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90853 Simple 63751640 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90854 Simple 63751640 T . Pathogenic 3 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90855 Simple 41294982 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 1.0 Uncertain significance 0 -90856 Simple 63751123 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90857 Simple 63751232 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90858 Simple 587779127 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90859 Simple 63751161 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90860 Simple 63750234 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90861 Simple 267607996 A . Likely pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 5.01 3.0 Likely pathogenic 0 -90862 Simple 267608000 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90863 Simple 587779128 GCC . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90864 Simple 63751089 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90865 Simple 587779129 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90866 Simple 587779130 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90867 Simple 587779131 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90868 Simple 267607995 A . Pathogenic 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -90869 Simple 267607995 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90870 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90871 Simple 63750199 - . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 14.82 3.0 Pathogenic/Likely pathogenic 1 -90872 Simple 587779132 TATATGTTGTGCCATGTGAATATA . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90873 Simple 587779133 C . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 2.169 1.0 Uncertain significance 0 -90874 Simple 63749993 G . Pathogenic 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 13.92 2.25 Pathogenic/Likely pathogenic 1 -90875 Simple 63750790 A . Uncertain significance 3 6 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.701 1.5 Uncertain significance 0 -90876 Simple 587779134 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90877 Simple 63749878 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90878 Simple 63750232 C . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.31 2.0 Likely pathogenic 0 -90879 Simple 587779135 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90880 Simple 63751432 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90881 Simple 267607994 T . Pathogenic 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 5.91 3.5 Likely pathogenic 2 -90882 Simple 63750961 C . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90883 Simple 63750398 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90884 Simple 63750872 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90885 Simple 587779136 G . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 15.42 2.6666666666666665 Pathogenic 0 -90886 Simple 267607915 - . Pathogenic 3 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90887 Simple 587779137 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90888 Simple 267607999 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90889 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90890 Simple 267607916 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90891 Simple 3815865 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90892 Simple 267607914 A . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -90893 Simple 267607917 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90894 Simple 587779138 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90895 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90896 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90897 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90898 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90899 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90900 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90901 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90902 Simple 63750108 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90903 Simple 63750636 T . Pathogenic 3 8 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 42.42 1.75 Pathogenic 0 -90904 Simple 63751453 TT . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -90905 Simple 63750003 C . Likely benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90906 Simple 63750003 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90907 Simple 63751224 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -90908 Simple 63750545 CC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90909 Simple 587779139 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.62 1.5 Pathogenic 0 -90910 Simple 63750810 G . Likely benign 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -20.310000000000002 2.6 Benign/Likely benign 1 -90911 Simple 63750722 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90912 Simple 587779140 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90913 Simple 63750794 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90914 Simple 587779141 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90915 Simple 63749802 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90916 Simple 63750562 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90917 Simple 1800150 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90918 Simple 281864943 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90919 Simple 63750572 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90920 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90921 Simple 267608002 A . Likely pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 11.31 1.3333333333333333 Pathogenic/Likely pathogenic 1 -90922 Simple 267608002 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90923 Simple 4608577 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90924 Simple 4638843 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90925 Simple 267608005 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90926 Simple 267608004 CC . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90927 Simple 267608006 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 2.199 1.75 Uncertain significance 0 -90928 Simple 267607979 T . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.31 2.5 Likely pathogenic 0 -90929 Simple 267608001 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90930 Simple 267608001 T . Likely pathogenic 3 2 Lynch syndrome 2013-09-05 7.109999999999999 3.5 Likely pathogenic 0 -90931 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90932 Simple 63751155 A . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90933 Simple 63751155 G . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 16.02 2.3333333333333335 Pathogenic 0 -90934 Simple 63751156 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90935 Simple 63750403 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90936 Simple 267607690 AATAAT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90937 Simple 587779142 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90938 Simple 267607690 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90939 Simple 63750712 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90940 Simple 63751036 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90941 Simple 267608007 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90942 Simple 63751477 A . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 5.3100000000000005 2.5 Likely pathogenic 0 -90943 Simple 63751119 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 7.62 2.0 Likely pathogenic 2 -90944 Simple 267608009 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90945 Simple 63750042 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.62 1.5 Pathogenic 0 -90946 Simple 63749854 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90947 Simple 63749913 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90948 Simple 587779143 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90949 Simple 63751105 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90950 Simple 63751105 C . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 2.0 Uncertain significance 0 -90951 Simple 63750346 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90952 Simple 63751143 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90953 Simple 63749848 - . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -90954 Simple 63750896 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90955 Simple 63750684 G . Uncertain significance 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.7309999999999999 1.0 Uncertain significance 0 -90956 Simple 63750618 A . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 2.0 Pathogenic 0 -90957 Simple 63750149 AA . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -90958 Simple 41295292 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.071 1.75 Uncertain significance 0 -90959 Simple 63750233 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90960 Simple 63750803 TTTT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90961 Simple 63750803 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90962 Simple 63750463 AA . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.02 2.3333333333333335 Pathogenic 0 -90963 Simple 63749983 - . Pathogenic 3 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90964 Simple 17217716 T . Benign 3 8 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -35.82 2.5 Benign 0 -90965 Simple 201298777 G . Uncertain significance 3 8 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -16.701 2.0 Benign/Likely benign 3 -90966 Simple 63750060 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90967 Simple 587779144 CC . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90968 Simple 41295294 G . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.801 2.3333333333333335 Uncertain significance 0 -90969 Simple 34986638 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90970 Simple 63751079 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90971 Simple 63751018 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90972 Simple 63749841 G . Likely benign 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -8.88 1.3333333333333333 Benign/Likely benign 1 -90973 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90974 Simple 63749917 T . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -90975 Simple 587779145 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90976 Simple 267608010 A . Likely pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.71 1.75 Pathogenic 2 -90977 Simple 267608012 G . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.471 3.5 Uncertain significance 0 -90978 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90979 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90980 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90981 Simple 63751621 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -90982 Simple 63750623 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90983 Simple 63750623 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -90984 Simple 587779146 CATGTTGCAGAGCTCATGTTGCAGAGCT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90985 Simple 63751117 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90986 Simple 63750757 A . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -20.01 1.1666666666666667 Benign/Likely benign 1 -90987 Simple 63751447 - . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -90988 Simple 41295296 C . Uncertain significance 3 7 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -7.401 0.8571428571428571 Likely benign 2 -90989 Simple 63750008 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90990 Simple 63750027 G . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.101 1.6 Uncertain significance 0 -90991 Simple 267608016 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.831 1.25 Uncertain significance 0 -90992 Simple 587779147 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90993 Simple 587779148 - . Pathogenic 3 4 Lynch syndrome I;Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.02 1.75 Pathogenic 0 -90994 Simple 63749975 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90995 Simple 63750571 G . Uncertain significance 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.25 Uncertain significance 0 -90996 Simple 63750857 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90997 Simple 587779149 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -90998 Simple 267608015 A . Uncertain significance 3 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.371 1.8 Uncertain significance 0 -90999 Simple 63750797 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 1.4 Uncertain significance 0 -91000 Simple 63750797 G . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.131 1.0 Uncertain significance 0 -91001 Simple 267607921 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91002 Simple 63751158 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91003 Simple 587779150 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91004 Simple 63749830 T . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -91005 Simple 63750849 A . Pathogenic 3 3 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 2.0 Pathogenic 0 -91006 Simple 63750849 T . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -9.21 1.1666666666666667 Benign/Likely benign 1 -91007 Simple 63750291 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -91008 Simple 63751093 G . Likely benign 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -5.3100000000000005 2.5 Likely benign 0 -91009 Simple 587779151 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91010 Simple 63751400 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91011 Simple 63750709 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91012 Simple 63750795 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91013 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91014 Simple 587779152 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91015 Simple 63751618 - . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 31.02 2.1666666666666665 Pathogenic 0 -91016 Simple 267608019 A . Likely pathogenic 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 14.31 2.0 Pathogenic/Likely pathogenic 1 -91017 Simple 267608019 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91018 Simple 267608021 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91019 Simple 267608017 C . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91020 Simple 267608017 T . Uncertain significance 3 2 Lynch syndrome 2013-09-05 2.4690000000000003 3.0 Uncertain significance 0 -91021 Simple 63751624 A . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 14.52 2.5 Pathogenic/Likely pathogenic 1 -91022 Simple 63751624 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91023 Simple 267608020 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91024 Simple 2042649 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91025 Simple 587779153 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91026 Simple . GAA . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91027 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91028 Simple 63751469 T . Uncertain significance 3 3 Lynch syndrome I;not provided;Hereditary cancer-predisposing syndrome 2015-10-28 8.703 0.6666666666666666 Pathogenic/Likely pathogenic 3 -91029 Simple 267607920 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91030 Simple 63750084 - . Uncertain significance 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2015-10-28 15.302999999999999 2.0 Pathogenic 3 -91031 Simple 63750145 AA . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-10-28 5.703 1.5 Likely pathogenic 2 -91032 Simple 63750409 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91033 Simple 63750808 T . Uncertain significance 3 3 Lynch syndrome I;not provided;Hereditary cancer-predisposing syndrome 2015-10-28 8.403 1.3333333333333333 Pathogenic/Likely pathogenic 3 -91034 Simple 63750350 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91035 Simple 63751007 - . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-10-28 4.503 2.5 Likely pathogenic 2 -91037 Simple 267608022 G . Likely benign 3 4 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-11-24 -6.57 0.75 Likely benign 0 -91038 Simple 267608022 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.831 1.0 Likely benign 2 -91039 Simple 41295182 G . Uncertain significance 3 8 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.941 1.5 Likely benign 2 -91040 Simple 267608024 T . Uncertain significance 3 1 Lynch syndrome I 2015-10-28 . 2.0 . 0 -91041 Simple 587779154 G . Uncertain significance 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.531 1.6666666666666667 Uncertain significance 0 -91042 Simple 55859129 C . Benign 3 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-10-10 -24.48 1.8 Benign 0 -91043 Simple 146421227 A . Uncertain significance 3 2 Lynch syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -0.531 2.0 Uncertain significance 0 -91044 Simple 63751429 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91045 Simple 551060742 T . Uncertain significance 3 8 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2015-10-28 -10.767 0.875 Benign/Likely benign 3 -91046 Simple 63749872 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91047 Simple 587779155 G . Uncertain significance 3 2 Lynch syndrome I;Lynch syndrome 2013-09-05 -0.501 3.0 Uncertain significance 0 -91048 Simple 267608023 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91049 Simple 587779156 AA . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91050 Simple 267607919 - . Benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -19.02 1.5 Benign/Likely benign 1 -91051 Simple 150259097 A . Uncertain significance 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -17.031 2.0 Benign/Likely benign 3 -91052 Simple 150259097 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91053 Simple 63750002 A . Likely benign 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -14.01 1.4 Benign/Likely benign 1 -91054 Simple 63750970 T . Pathogenic 3 4 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 21.42 2.25 Pathogenic 0 -91055 Simple 63751099 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91056 Simple 63750887 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91057 Simple 63750230 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.5 Uncertain significance 0 -91058 Simple 63750589 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91059 Simple 63750318 T . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 15.42 2.6666666666666665 Pathogenic 0 -91060 Simple 587779157 - . Likely pathogenic 3 5 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.11 2.2 Pathogenic/Likely pathogenic 1 -91061 Simple 63751173 G . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 1.6666666666666667 Uncertain significance 0 -91062 Simple 41295286 A . Benign 3 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -20.82 1.8 Benign/Likely benign 1 -91063 Simple 587779158 C . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.0 Uncertain significance 0 -91064 Simple 63751437 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91065 Simple 63751040 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91066 Simple 63751195 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91067 Simple 63750501 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91068 Simple 63750614 GG . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -91069 Simple 587779159 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91070 Simple 63750458 G . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91071 Simple 267607924 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91072 Simple 185555345 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91073 Simple 267607923 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91074 Simple 587779160 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91075 Simple 267607925 A . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 5.3100000000000005 2.0 Likely pathogenic 0 -91076 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91077 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91078 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91079 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91080 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.82 4.0 Pathogenic/Likely pathogenic 1 -91081 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91082 Simple . . . Pathogenic 3 3 Lynch syndrome 2013-09-05 14.22 3.3333333333333335 Pathogenic/Likely pathogenic 1 -91083 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91084 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 8.22 4.5 Likely pathogenic 2 -91085 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91086 Simple 63750210 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91087 Simple 17217772 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91088 Simple 63751227 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91089 Simple 63750924 - . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 30.42 2.5 Pathogenic 0 -91090 Simple 63750704 - . Pathogenic 3 4 Colorectal cancer, hereditary, nonpolyposis, type 1;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.02 1.75 Pathogenic 0 -91091 Simple 63749907 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91092 Simple 61756462 T . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.531 1.6666666666666667 Uncertain significance 0 -91093 Simple 63751290 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91094 Simple 63750408 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91095 Simple 63750401 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91096 Simple 63750910 G . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -91097 Simple 63750124 G . Uncertain significance 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -10.431 1.0 Benign/Likely benign 3 -91098 Simple 587779161 C . Uncertain significance 3 4 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -8.931000000000001 2.0 Benign/Likely benign 3 -91099 Simple 587779162 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91100 Simple 63751065 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.531 1.25 Likely benign 2 -91101 Simple 61756463 A . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -23.61 2.3333333333333335 Benign/Likely benign 1 -91102 Simple 63751226 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91103 Simple 63751426 T . Pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -91104 Simple 63750126 A . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.471 3.5 Uncertain significance 0 -91105 Simple 63750624 A . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 13.620000000000001 1.6666666666666667 Pathogenic/Likely pathogenic 1 -91106 Simple 63750773 C . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.3333333333333333 Uncertain significance 0 -91107 Simple 63750214 A . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.32 2.0 Pathogenic/Likely pathogenic 1 -91108 Simple 63750214 G . Pathogenic 3 1 Lynch syndrome I 2015-03-18 . 2.0 . 0 -91109 Simple 63750582 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -91110 Simple 63750582 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 3.189 3.0 Uncertain significance 0 -91111 Simple 587779163 G . Likely pathogenic 3 1 Lynch syndrome 2014-03-14 . 3.0 . 0 -91112 Simple 63750255 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -15.231 1.0 Benign/Likely benign 3 -91113 Simple 63750966 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91114 Simple 281864943 . . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.041 2.25 Uncertain significance 0 -91115 Simple 63750716 G . Likely benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -22.71 1.3333333333333333 Benign/Likely benign 1 -91116 Simple 63751013 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91117 Simple 63750843 T . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 22.62 1.5 Pathogenic 0 -91118 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91119 Simple 63750902 A . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 2.0 Uncertain significance 0 -91120 Simple 63750933 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91121 Simple 63750070 C . Uncertain significance 3 2 Lynch syndrome 2013-09-05 1.569 4.5 Uncertain significance 0 -91122 Simple 63750070 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91123 Simple 63750069 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91124 Simple 63750705 . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91125 Simple 63751291 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91126 Simple 587779164 - . Pathogenic 3 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -91127 Simple 63750382 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91128 Simple 63750382 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91129 Simple 63750551 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91130 Simple 63750037 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91131 Simple 63750777 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91132 Simple 267607928 - . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91133 Simple 151129360 G . Uncertain significance 3 7 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.9709999999999999 1.1428571428571428 Uncertain significance 0 -91134 Simple 63751444 C . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 11.22 3.0 Pathogenic/Likely pathogenic 1 -91135 Simple 63751444 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91136 Simple 63750088 - . Pathogenic 3 1 Lynch syndrome 2014-10-10 . 3.0 . 0 -91137 Simple 63750821 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91138 Simple 267607927 CT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91139 Simple 587779165 - . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 15.72 2.25 Pathogenic 0 -91140 Simple 1800151 T . Benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -35.82 1.4285714285714286 Benign 0 -91141 Simple 63751326 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91142 Simple 63750682 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91143 Simple 587779166 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91144 Simple 63750786 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91145 Simple 63750327 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91146 Simple 63751110 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91147 Simple 63751136 A . Uncertain significance 3 2 Lynch syndrome;not specified 2013-09-05 -0.471 3.5 Uncertain significance 0 -91148 Simple 587779167 A . Pathogenic 3 1 Lynch syndrome I 2014-10-10 . 3.0 . 0 -91149 Simple 63750574 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91150 Simple 63749984 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91151 Simple 63750995 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91152 Simple 63751622 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91153 Simple 63751695 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91154 Simple 63751274 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91155 Simple 267607689 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -91156 Simple 267607689 T . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 7.710000000000001 3.0 Likely pathogenic 0 -91157 Simple 587779168 G . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -6.531 1.75 Likely benign 2 -91158 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91159 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91160 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91161 Simple 587779169 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91162 Simple 267607930 G . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91163 Simple 267607929 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91164 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91165 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91166 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91167 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91168 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91169 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91170 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91171 Simple 63749936 G . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.531 1.6666666666666667 Uncertain significance 0 -91172 Simple 63751602 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -91173 Simple 587779170 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91174 Simple 587779171 G . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 1.6666666666666667 Uncertain significance 0 -91175 Simple 587779172 TAAT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91176 Simple 587779173 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91177 Simple 63749897 - . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.5 Pathogenic 0 -91178 Simple 63750364 AA . Pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 15.420000000000002 2.6666666666666665 Pathogenic 0 -91179 Simple 587779174 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91180 Simple 63750426 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91181 Simple 368270856 T . Likely benign 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -12.51 2.5 Benign/Likely benign 1 -91182 Simple 281864944 - . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -91183 Simple 281864945 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -91184 Simple 63751288 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91185 Simple 63750488 T . Pathogenic 3 3 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 16.02 2.0 Pathogenic 0 -91186 Simple 63750690 TTA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91187 Simple 587779175 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91188 Simple 587779176 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91189 Simple 63751455 A . Uncertain significance 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.701 1.1666666666666667 Uncertain significance 0 -91190 Simple 63750107 GG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91191 Simple 63750881 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91192 Simple 63750881 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91193 Simple 587779177 C . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91194 Simple 587779178 G . Uncertain significance 3 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -0.831 2.0 Uncertain significance 0 -91195 Simple 63749832 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -91196 Simple 63750347 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -91197 Simple 267607931 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91198 Simple 63751160 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91199 Simple 587779179 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91200 Simple 587779180 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -11.931000000000001 1.6 Benign/Likely benign 3 -91201 Simple 63750329 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91202 Simple 587779181 CTCT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91203 Simple 63749969 C . Uncertain significance 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.531 2.0 Uncertain significance 0 -91204 Simple 63751614 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91205 Simple 267607934 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91206 Simple 267607935 G . Uncertain significance 3 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -6.831 1.0 Likely benign 2 -91207 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91208 Simple 587779183 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91209 Simple 267607932 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91210 Simple 267607933 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91211 Simple 587779184 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91212 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91213 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -91214 Simple . . . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91215 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91216 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91217 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91218 Simple 63749903 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91219 Simple 63749902 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91220 Simple 63750058 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91221 Simple 63751133 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91222 Simple 587779185 - . Pathogenic 3 4 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 22.02 2.0 Pathogenic 0 -91223 Simple 587779186 AT . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91224 Simple 63749840 AA . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91225 Simple 63751246 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -91226 Simple 587779188 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91227 Simple 63751159 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91228 Simple 63750091 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91229 Simple 63749991 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91230 Simple 63750381 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91231 Simple 63750701 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91232 Simple 63750276 T . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 8.82 4.0 Pathogenic/Likely pathogenic 1 -91233 Simple 63750097 T . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 16.62 1.3333333333333333 Pathogenic 0 -91234 Simple 587779189 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91235 Simple 587779190 T . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -91236 Simple 587779191 - . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -91237 Simple 63751115 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91238 Simple 587779192 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91239 Simple 63750934 T . Pathogenic 3 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 1.6666666666666667 Pathogenic 0 -91240 Simple 63750885 ATAT . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -91241 Simple 63749915 T . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91242 Simple 63749914 A . Pathogenic 3 2 Lynch syndrome I;Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -91243 Simple 63751454 A . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -7.131 1.0 Likely benign 2 -91244 Simple 63750046 AGCAGTCAAGCAGTCA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91245 Simple 63750640 C . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 6.720000000000001 4.0 Likely pathogenic 2 -91246 Simple 63750640 G . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -0.831 1.6666666666666667 Uncertain significance 0 -91247 Simple 587779193 T . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 8.31 2.0 Likely pathogenic 0 -91248 Simple 587779196 - . Uncertain significance 3 3 Lynch syndrome;not specified 2013-09-05 -8.931000000000001 2.3333333333333335 Benign/Likely benign 3 -91249 Simple 587779195 G . Likely pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 7.710000000000001 3.0 Likely pathogenic 0 -91250 Simple 587779194 - . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91251 Simple 587779197 A . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91252 Simple 12476364 A . Likely pathogenic 3 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 8.31 2.0 Likely pathogenic 0 -91253 Simple 12476364 C . Likely pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.51 3.3333333333333335 Pathogenic/Likely pathogenic 1 -91254 Simple 587779198 G . Likely pathogenic 3 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 16.71 1.5 Pathogenic 2 -91255 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91256 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.02 3.0 Pathogenic/Likely pathogenic 1 -91257 Simple 63750728 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91258 Simple 63749852 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91259 Simple 63750732 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91260 Simple 63750732 G . Uncertain significance 3 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 -1.341 2.0 Uncertain significance 0 -91261 Simple 63750502 T . Pathogenic 3 1 Lynch syndrome;not provided 2013-09-05 . 4.0 . 0 -91262 Simple 63751044 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91263 Simple 587779199 . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91264 Simple 63750505 A . Likely benign 3 6 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -21.810000000000002 1.8333333333333333 Benign/Likely benign 1 -91265 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91266 Simple 63749945 TT . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91267 Simple 63751107 C . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.431 1.0 Uncertain significance 0 -91268 Simple 63751107 G . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -1.431 1.4 Uncertain significance 0 -91269 Simple 4987189 T . Likely benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -26.01 2.2857142857142856 Benign 2 -91270 Simple 63750630 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91271 Simple 267607938 G . Likely benign 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -5.91 1.25 Likely benign 0 -91272 Simple 63750468 C . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 5.769 2.0 Likely pathogenic 2 -91273 Simple 63750828 A . Pathogenic 3 5 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-11-03 30.6 0.6 Pathogenic 0 -91274 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91275 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91276 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91277 Simple 556089649 G . Benign 3 3 Lynch syndrome;not specified 2013-09-05 -15.42 2.6666666666666665 Benign/Likely benign 1 -91278 Simple 267608145 TT . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91279 Simple 587779325 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91280 Simple 3735296 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91281 Simple 2302336 G . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91282 Simple 77199218 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91283 Simple 78453798 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91284 Simple 1062372 A . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91285 Simple 373211005 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91286 Simple 6976537 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91287 Simple 77137704 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91289 Simple 267608156 AA . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91290 Simple 587779326 TAAA . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.0 Pathogenic/Likely pathogenic 1 -91291 Simple 267608158 T . Likely pathogenic 3 1 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome 2013-09-05 . 4.0 . 0 -91292 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91293 Simple 267608157 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91294 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91295 Simple . . . Pathogenic 3 1 Turcot syndrome;Lynch syndrome 2013-09-05 . 4.0 . 0 -91296 Simple 587779327 . . Pathogenic 3 1 Turcot syndrome;Lynch syndrome 2013-09-05 . 4.0 . 0 -91298 Simple 267608159 - . Uncertain significance 3 1 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome 2013-09-05 . 4.0 . 0 -91299 Simple 587778617 A . Pathogenic 3 6 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 32.82 2.0 Pathogenic 0 -91300 Simple 63750106 TT . Pathogenic 3 1 Turcot syndrome;Lynch syndrome 2013-09-05 . 4.0 . 0 -91301 Simple 121434629 T . Uncertain significance 3 3 Lynch syndrome;not provided;Hereditary nonpolyposis colon cancer 2013-09-05 5.169 2.3333333333333335 Likely pathogenic 2 -91302 Simple 200116037 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91303 Simple 587779328 A . Uncertain significance 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -4.401 1.3333333333333333 Likely benign 2 -91304 Simple 1805320 A . Benign 3 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -28.62 2.1666666666666665 Benign 0 -91305 Simple 368516768 G . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -4.131 0.8 Uncertain significance 0 -91306 Simple 141458772 C . Likely benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -29.310000000000002 2.142857142857143 Benign 2 -91307 Simple 587779329 G . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91308 Simple 587779324 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91309 Simple . CG . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91310 Simple 587779330 TT . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91311 Simple 63750534 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91312 Simple 267608169 A . Pathogenic 3 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 22.62 1.0 Pathogenic 0 -91313 Simple 63750947 T . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.831 1.25 Uncertain significance 0 -91314 Simple 63750477 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91315 Simple 200313585 C . Likely benign 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -14.31 1.0 Benign/Likely benign 1 -91316 Simple 63750793 - . Pathogenic 3 1 Turcot syndrome;Lynch syndrome 2013-09-05 . 4.0 . 0 -91317 Simple 63750250 TT . Pathogenic 3 6 Lynch syndrome I;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 34.02 1.1666666666666667 Pathogenic 0 -91318 Simple 63750490 A . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.62 1.2 Pathogenic 0 -91319 Simple 587779331 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91320 Simple 63751422 A . Pathogenic 3 5 Turcot syndrome;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.62 1.0 Pathogenic 0 -91321 Simple 201451115 A . Pathogenic 3 7 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 40.62 1.0 Pathogenic 0 -91322 Simple 587779332 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91323 Simple 587779333 C . Uncertain significance 3 7 Lynch syndrome I;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 32.769 0.7142857142857143 Pathogenic 3 -91324 Simple 111905775 T . Benign 3 8 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -37.02 2.125 Benign 0 -91325 Simple 587779334 A . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91326 Simple 267608170 T . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91327 Simple 1805326 T . Benign 3 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -23.22 2.4 Benign/Likely benign 1 -91328 Simple 267608161 T . Uncertain significance 3 5 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 17.769 1.0 Pathogenic 3 -91329 Simple 267608172 T . Pathogenic 3 6 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2014-03-14 34.68 1.0 Pathogenic 0 -91330 Simple 587779335 - . Uncertain significance 3 5 Lynch syndrome I;Turcot syndrome;Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2015-11-24 11.103 1.2 Pathogenic/Likely pathogenic 3 -91331 Simple 63750695 - . Pathogenic 3 6 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 32.82 1.8333333333333333 Pathogenic 0 -91332 Simple 587779336 CACA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91333 Simple 267608173 - . Pathogenic 3 3 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 16.62 2.0 Pathogenic 0 -91334 Simple 587779337 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 1.929 1.4 Uncertain significance 0 -91335 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91336 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91337 Simple 142230276 A . Benign 3 7 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -36.42 2.2857142857142856 Benign 0 -91338 Simple 267608160 - . Pathogenic 3 2 Turcot syndrome;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91339 Simple 267608152 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91340 Simple 149202766 A . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.431 1.0 Uncertain significance 0 -91341 Simple . ATTT . Pathogenic 3 2 Lynch syndrome;not provided 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91342 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91343 Simple 587779338 A . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 2.169 1.25 Uncertain significance 0 -91344 Simple 587779339 - . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91345 Simple 587779340 C . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91346 Simple 117831773 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91347 Simple 267608146 G . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91348 Simple 267608174 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91349 Simple 12532895 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91350 Simple 12532895 A . Benign 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2013-09-05 -17.82 2.5 Benign/Likely benign 1 -91351 Simple 63751284 T . Uncertain significance 3 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.401 1.2 Uncertain significance 0 -91352 Simple 63749862 T . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.0 Uncertain significance 0 -91353 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91354 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91355 Simple 371342884 T . Likely benign 3 6 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -25.11 1.8333333333333333 Benign 2 -91356 Simple 2345060 C . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91357 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91358 Simple 63751029 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91359 Simple 587779341 T . Uncertain significance 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 -0.531 2.0 Uncertain significance 0 -91360 Simple 267608148 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91361 Simple 587779342 G . Uncertain significance 3 6 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 1.569 1.1666666666666667 Uncertain significance 0 -91362 Simple 587779343 A . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.02 1.6 Pathogenic 0 -91363 Simple 63750261 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 9.42 3.5 Pathogenic/Likely pathogenic 1 -91364 Simple 267608147 A . Likely pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91365 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91366 Simple 267608150 CTTCACACACA . Pathogenic 3 7 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2013-09-05 38.22 1.8571428571428572 Pathogenic 0 -91367 Simple 587779344 - . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91368 Simple 587779345 C . Uncertain significance 3 5 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -1.401 1.6 Uncertain significance 0 -91369 Simple 267608149 AA . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91370 Simple 267608151 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91371 Simple 2286680 T . Benign 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91372 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91373 Simple . . . Pathogenic 3 2 Lynch syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91374 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91375 Simple 267608154 - . Pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 28.62 1.4 Pathogenic 0 -91376 Simple 63750246 - . Pathogenic 3 5 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 26.82 2.2 Pathogenic 0 -91377 Simple 267608153 A . Likely pathogenic 3 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 17.31 1.2 Pathogenic 2 -91378 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91379 Simple . . . Pathogenic 3 3 Lynch syndrome 2013-09-05 16.02 2.3333333333333335 Pathogenic 0 -91380 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91381 Simple 587779346 C . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91382 Simple 200640585 A . Pathogenic 3 6 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Colorectal cancer, non-polyposis;Hereditary nonpolyposis colon cancer 2013-09-05 34.02 1.1666666666666667 Pathogenic 0 -91383 Simple 143277125 A . Pathogenic 3 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-09-05 10.620000000000001 2.5 Pathogenic/Likely pathogenic 1 -91384 Simple 267608155 T . Uncertain significance 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91385 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91386 Simple 587779347 C . Likely pathogenic 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 14.31 1.3333333333333333 Pathogenic/Likely pathogenic 1 -91387 Simple . . . Pathogenic 3 1 Lynch syndrome 2013-09-05 . 4.0 . 0 -91395 Simple 398122965 T . Pathogenic 2 2 Digitorenocerebral syndrome;not provided 2017-10-30 10.2 2.0 Pathogenic/Likely pathogenic 1 -91398 Simple 398122967 - . Pathogenic 2 4 Epileptic encephalopathy, early infantile, 1;Digitorenocerebral syndrome;not provided;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-05-04 21.6 1.75 Pathogenic 0 -91409 Simple 398122528 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -1.5 0.4 Uncertain significance 0 -91413 Simple 398122531 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91416 Simple 398122533 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -1.1400000000000001 1.0 Uncertain significance 0 -91418 Simple 398122535 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91419 Simple 398122536 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.87 0.6666666666666666 Uncertain significance 0 -91422 Simple 398122538 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.84 1.3333333333333333 Uncertain significance 0 -91423 Simple 398122539 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 23.4 1.5 Pathogenic 0 -91426 Simple 398122541 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91429 Simple 376582345 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-11-20 -0.54 2.0 Uncertain significance 0 -91430 Simple 28897739 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.5 Uncertain significance 0 -91431 Simple 148618542 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.5 0.2 Uncertain significance 0 -91433 Simple 398122544 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-21 -0.5700000000000001 1.5 Uncertain significance 0 -91434 Simple 398122545 TATA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91435 Simple 398122546 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 38.4 1.7142857142857142 Pathogenic 0 -91437 Simple 398122547 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -91438 Simple 398122548 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.5700000000000001 1.0 Uncertain significance 0 -91439 Simple 398122549 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-10-21 -0.54 2.0 Uncertain significance 0 -91442 Simple 398122551 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-11-11 -0.6 1.0 Uncertain significance 0 -91443 Simple 398122552 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -91445 Simple 80359575 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 0.8 Pathogenic 0 -91447 Simple 398122555 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91448 Simple 398122556 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91449 Simple 398122557 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91451 Simple 398122559 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.6666666666666666 Pathogenic 0 -91453 Simple 398122561 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91454 Simple 398122562 TATA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91455 Simple 398122563 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.84 1.0 Uncertain significance 0 -91459 Simple 81002811 C . Likely benign 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -8.4 1.3333333333333333 Benign/Likely benign 1 -91465 Simple 398122572 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-04-21 -0.75 2.6666666666666665 Uncertain significance 0 -91469 Simple 41293505 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -91470 Simple 398122575 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-11-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -91471 Simple 398122576 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91477 Simple 375790538 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.47 0.4 Uncertain significance 0 -91479 Simple 398122583 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -91481 Simple 80359656 AA . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 27.6 0.8 Pathogenic 0 -91482 Simple 80359660 CC . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -91485 Simple 144728108 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-05 -0.54 2.0 Uncertain significance 0 -91489 Simple 398122588 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-04-18 -0.5700000000000001 1.5 Uncertain significance 0 -91491 Simple 398122590 A . Uncertain significance 1 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-08-21 . 2.0 . 0 -91492 Simple 398122591 A . Uncertain significance 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -1.7999999999999998 0.5 Uncertain significance 0 -91497 Simple 398122593 AAAA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91498 Simple 80359018 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -91501 Simple 398122596 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-01 -1.47 0.6 Uncertain significance 0 -91502 Simple 398122597 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-10 -0.5700000000000001 1.5 Uncertain significance 0 -91503 Simple 398122598 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-07-07 -0.5700000000000001 1.0 Uncertain significance 0 -91504 Simple 398122599 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -91506 Simple 398122601 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91508 Simple 398122603 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-27 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -91510 Simple 398122605 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91515 Simple 398122608 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -91516 Simple 398122609 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91517 Simple 398122610 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -91519 Simple 276174918 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -91522 Simple 80359195 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-27 -1.44 1.0 Uncertain significance 0 -91523 Simple 398122612 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91524 Simple 398122613 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-08 -0.6 0.5 Uncertain significance 0 -91529 Simple 398122617 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -91530 Simple 398122618 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -91534 Simple 398122622 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 20.1 1.75 Pathogenic 0 -91535 Simple 398122623 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91536 Simple 398122624 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -91539 Simple 80359875 . . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -91540 Simple 398122627 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -91541 Simple 397507184 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-02-01 -0.48 3.0 Uncertain significance 0 -91543 Simple 398122629 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91544 Simple 80357543 ACAC . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -91545 Simple 398122630 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Neoplasm of the breast 2016-09-08 . 1.0 . 0 -91546 Simple 398122631 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91547 Simple 80358131 G . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-31 21.6 1.8 Pathogenic 1 -91549 Simple 398122632 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91550 Simple 398122633 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91553 Simple 398122635 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91554 Simple 398122636 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -91560 Simple 398122640 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91561 Simple 398122641 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91562 Simple 80356928 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -91563 Simple 398122642 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91567 Simple 398122646 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91568 Simple 398122647 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-05-05 -0.54 1.5 Uncertain significance 0 -91571 Simple 398122650 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91573 Simple 398122651 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -91574 Simple 273898676 - . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-07-05 16.8 1.3333333333333333 Pathogenic 0 -91576 Simple 80357182 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -1.41 1.4 Uncertain significance 0 -91577 Simple 398122653 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -91578 Simple 80357944 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -91581 Simple 398122655 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.5 0.2 Uncertain significance 0 -91582 Simple 80357194 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -91583 Simple 398122656 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -91584 Simple 80356945 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.2 0.25 Uncertain significance 0 -91585 Simple 398122657 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91588 Simple 398122659 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91591 Simple 398122661 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.5 Pathogenic 0 -91592 Simple 28897684 C . Benign 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -28.35 1.5 Benign 0 -91593 Simple 398122662 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-28 -1.2 0.5 Uncertain significance 0 -91595 Simple 398122663 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91596 Simple 398122664 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -91599 Simple 398122667 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91601 Simple 398122669 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91602 Simple 398122670 GAGA . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 30.0 1.2 Pathogenic 0 -91603 Simple 80357876 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 42.0 0.7142857142857143 Pathogenic 0 -91607 Simple 398122673 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91609 Simple 398122674 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91611 Simple 398122676 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -91612 Simple 398122677 - . Pathogenic 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 40.8 1.2857142857142858 Pathogenic 0 -91614 Simple 80357928 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -91617 Simple 80357254 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-20 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -91620 Simple 80357202 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91621 Simple 398122679 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91622 Simple 398122680 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-21 -0.78 2.3333333333333335 Uncertain significance 0 -91623 Simple 398122681 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91628 Simple 398122685 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -91630 Simple 398122686 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-05-12 -0.5700000000000001 1.5 Uncertain significance 0 -91631 Simple 398122687 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 3.25 Pathogenic 0 -91635 Simple 80358035 C . Benign 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -49.44 1.7 Benign 0 -91639 Simple 375639469 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-08 -0.54 1.5 Uncertain significance 0 -91640 Simple 398122692 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -91644 Simple 273901754 - . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-11-01 25.8 1.4 Pathogenic 1 -91646 Simple 398122694 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-16 -0.87 1.0 Uncertain significance 0 -91647 Simple 398122695 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.44 1.0 Uncertain significance 0 -91649 Simple 398122697 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-20 -1.05 2.25 Uncertain significance 0 -91659 Simple 398122704 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-22 -0.6 1.0 Uncertain significance 0 -91664 Simple 398122708 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-18 -0.5700000000000001 1.5 Uncertain significance 0 -91668 Simple 80358018 T . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-26 22.200000000000003 1.4 Pathogenic 1 -91669 Simple 398122709 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -91731 Simple 398122711 A . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 2 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 0 -91732 Simple 80359123 T . Benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -16.740000000000002 1.5 Benign/Likely benign 1 -91733 Simple 398122712 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-27 -0.87 1.0 Uncertain significance 0 -91736 Simple 398122715 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -91737 Simple 80359144 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91738 Simple 398122716 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -0.5700000000000001 1.0 Uncertain significance 0 -91747 Simple 398122723 A . Likely benign 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -11.7 0.75 Benign/Likely benign 1 -91748 Simple 398122724 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-28 -0.8999999999999999 1.0 Uncertain significance 0 -91750 Simple 398122725 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified 2016-06-30 -0.6 1.0 Uncertain significance 0 -91751 Simple 398122726 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -91754 Simple 398122729 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -91755 Simple 397507603 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-11 -1.2 0.5 Uncertain significance 0 -91757 Simple 398122731 G . Likely benign 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -16.2 1.6666666666666667 Benign/Likely benign 1 -91758 Simple 398122732 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -91760 Simple 80358471 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -91761 Simple 398122733 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91762 Simple 398122734 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-09-12 -0.5700000000000001 1.5 Uncertain significance 0 -91764 Simple 398122735 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -91766 Simple 398122737 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91770 Simple 398122741 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91771 Simple 398122742 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -91773 Simple 398122744 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -91775 Simple 80359328 AA . Pathogenic 3 11 Breast-ovarian cancer, familial 2;Malignant tumor of prostate;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 62.4 1.1818181818181819 Pathogenic 0 -91776 Simple 398122746 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -91777 Simple 398122747 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91778 Simple 55646808 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -91779 Simple 398122748 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91780 Simple 398122749 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -91784 Simple 398122752 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -91787 Simple 398122753 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 42.0 0.7142857142857143 Pathogenic 0 -91789 Simple 398122755 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-23 -0.6 1.0 Uncertain significance 0 -91793 Simple 398122758 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.54 1.5 Uncertain significance 0 -91794 Simple 398122759 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -0.87 1.0 Uncertain significance 0 -91797 Simple 398122762 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91798 Simple 398122763 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2 2016-09-08 21.0 1.25 Pathogenic 0 -91805 Simple 398122769 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -91809 Simple 398122772 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -91811 Simple 398122774 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-23 -0.54 1.5 Uncertain significance 0 -91812 Simple 398122775 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -91815 Simple 398122777 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 1.0 Pathogenic 0 -91817 Simple 398122779 G . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2015-10-02 14.4 3.0 Pathogenic/Likely pathogenic 1 -91820 Simple 80358670 G . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.2 1.6 Pathogenic 0 -91822 Simple 398122783 - . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 37.2 1.4285714285714286 Pathogenic 0 -91826 Simple 398122786 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91827 Simple 398122787 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -91829 Simple 398122788 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-11-23 -0.78 2.3333333333333335 Uncertain significance 0 -91830 Simple 398122789 AA . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.5 Pathogenic 0 -91831 Simple 398122790 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -91832 Simple 398122791 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -91833 Simple 398122792 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-15 -1.08 2.0 Uncertain significance 0 -91834 Simple 398122793 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -91839 Simple 398122796 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -92253 Simple 150710061 C . Uncertain significance 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2017-05-09 -0.87 1.0 Uncertain significance 0 -92254 Simple 1061337 G . Benign/Likely benign 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2017-07-19 -14.4 1.0 Benign/Likely benign 0 -92256 Simple 74090724 C . Benign 2 2 not specified 2013-05-29 -7.800000000000001 4.5 Likely benign 2 -92258 Simple 398123072 T . Pathogenic/Likely pathogenic 2 4 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2016-09-23 17.4 2.5 Pathogenic 1 -92259 Simple 2275378 C . Benign/Likely benign 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -92261 Simple 398123074 C . Pathogenic 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2017-03-21 16.2 1.6666666666666667 Pathogenic 0 -92263 Simple 74090726 C . Benign/Likely benign, risk factor 2 5 Medium-chain acyl-coenzyme A dehydrogenase deficiency;MCAD deficiency, modifier of;not specified 2017-06-08 -21.6 2.6 Benign/Likely benign 0 -92266 Simple 78392995 G . Benign/Likely benign 2 5 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2017-07-19 -23.4 1.8 Benign/Likely benign 0 -92267 Simple 373715782 T . Pathogenic/Likely pathogenic 2 5 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified;not provided 2017-07-14 20.7 1.8 Pathogenic 1 -92268 Simple 200724875 A . Pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-10-04 10.2 2.5 Pathogenic/Likely pathogenic 1 -92269 Simple 398123078 - . Uncertain significance 2 2 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -92276 Simple 398123083 A . Pathogenic/Likely pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency 2015-02-25 6.0 4.0 Likely pathogenic 1 -92277 Simple 17671352 C . Benign 2 5 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2016-06-14 -25.8 2.4 Benign 0 -92280 Simple 375806217 C . Uncertain significance 2 2 not specified 2015-12-01 -0.48 3.0 Uncertain significance 0 -92285 Simple 370169077 T . Uncertain significance 2 2 not specified 2016-08-25 -0.51 2.5 Uncertain significance 0 -92286 Simple 369560930 A . Pathogenic/Likely pathogenic 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2017-09-26 11.4 1.0 Pathogenic/Likely pathogenic 0 -92288 Simple 398123090 C . Uncertain significance 2 2 not specified 2016-10-12 -0.51 2.5 Uncertain significance 0 -92290 Simple 398123092 C . Pathogenic 2 4 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2017-08-01 22.2 1.25 Pathogenic 0 -92293 Simple 398123095 C . Uncertain significance 2 2 not specified 2016-09-06 -0.48 3.0 Uncertain significance 0 -92294 Simple 3741055 A . Benign 2 2 Deficiency of acetyl-CoA acetyltransferase;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92295 Simple 3741056 C . Benign 2 2 Deficiency of acetyl-CoA acetyltransferase;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92296 Simple 35188041 A . Benign/Likely benign 2 2 Deficiency of acetyl-CoA acetyltransferase;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -92297 Simple 148639841 G . Pathogenic 2 2 Deficiency of acetyl-CoA acetyltransferase;not provided 2017-08-04 10.2 2.0 Pathogenic/Likely pathogenic 1 -92301 Simple 371675217 A . Pathogenic/Likely pathogenic 2 5 Limb-girdle muscular dystrophy, type 2D;not provided 2017-08-21 24.0 2.0 Pathogenic 1 -92303 Simple 200137051 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2D;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -92305 Simple 192303222 A . Uncertain significance 2 2 not specified 2015-01-31 -0.48 3.0 Uncertain significance 0 -92307 Simple 34241758 C . Benign/Likely benign 2 3 Aspartylglycosaminuria;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -92308 Simple 2228119 C . Benign 2 3 Aspartylglycosaminuria;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -92309 Simple 373865451 T . Uncertain significance 2 2 not specified;not provided 2016-09-30 -0.48 3.0 Uncertain significance 0 -92313 Simple 2229539 C . Benign 2 4 Adrenoleukodystrophy;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -92315 Simple 398123101 - . Benign/Likely benign 2 4 Adrenoleukodystrophy;not specified 2017-07-07 -19.2 1.25 Benign/Likely benign 0 -92316 Simple 41314153 A . Benign 2 3 Adrenoleukodystrophy;not specified 2017-06-05 -18.0 0.6666666666666666 Benign/Likely benign 1 -92320 Simple 398123105 T . Pathogenic 2 2 Adrenoleukodystrophy 2016-10-14 10.2 2.5 Pathogenic/Likely pathogenic 1 -92321 Simple 398123106 T . Pathogenic/Likely pathogenic 2 2 Adrenoleukodystrophy;not provided 2017-06-08 7.2 2.0 Likely pathogenic 1 -92323 Simple 398123108 A . Pathogenic 2 2 Adrenoleukodystrophy;not provided 2016-11-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -92329 Simple 41302176 T . Benign 2 1 not specified 2014-09-03 . 3.0 . 0 -92341 Simple 398123117 T . Pathogenic 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-06-16 15.6 2.3333333333333335 Pathogenic 0 -92342 Simple 398123118 - . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2015-06-02 13.8 3.3333333333333335 Pathogenic/Likely pathogenic 1 -92345 Simple 143927847 A . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-09 -31.8 2.5714285714285716 Benign 1 -92346 Simple 398123121 T . Pathogenic 2 5 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-03-08 27.6 1.6 Pathogenic 0 -92348 Simple 201472075 A . Uncertain significance 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-24 -1.71 1.1666666666666667 Uncertain significance 0 -92349 Simple 147036141 G . Benign/Likely benign 2 8 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-10 -34.8 2.5 Benign 1 -92350 Simple 1065757 T . Benign 2 2 Mucopolysaccharidosis type VI;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -92351 Simple 1071598 T . Benign/Likely benign 2 3 Mucopolysaccharidosis type VI;not specified 2016-06-15 -13.8 1.6666666666666667 Benign/Likely benign 0 -92352 Simple 25414 T . Benign/Likely benign 2 2 Mucopolysaccharidosis type VI;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -92354 Simple 25413 T . Benign 2 2 Mucopolysaccharidosis type VI;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -92357 Simple 72762973 C . Benign/Likely benign 2 2 Mucopolysaccharidosis type VI;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -92358 Simple 75300185 T . Benign/Likely benign 2 4 Argininosuccinate lyase deficiency;not specified;not provided 2017-07-14 -16.8 1.25 Benign/Likely benign 0 -92360 Simple 145138923 A . Pathogenic/Likely pathogenic 2 7 Argininosuccinate lyase deficiency;not provided 2017-09-22 30.0 1.5714285714285714 Pathogenic 1 -92361 Simple 142637046 A . Pathogenic 2 3 Argininosuccinate lyase deficiency;not provided 2017-03-23 16.2 1.6666666666666667 Pathogenic 0 -92362 Simple 398123126 T . Pathogenic 2 3 Argininosuccinate lyase deficiency;not provided 2017-03-28 15.600000000000001 2.0 Pathogenic 0 -92363 Simple 115468878 A . Benign/Likely benign 2 2 not specified 2017-08-31 -6.6 2.5 Likely benign 1 -92364 Simple 12536292 T . Benign/Likely benign 2 2 Argininosuccinate lyase deficiency;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -92369 Simple 10901072 T . Benign/Likely benign 2 3 Citrullinemia type I;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -92370 Simple 652313 G . Benign 2 1 not specified 2014-08-06 . 3.0 . 0 -92372 Simple 192838388 A . Pathogenic/Likely pathogenic 2 4 Citrullinemia type I;not provided 2017-06-16 18.6 1.5 Pathogenic 1 -92374 Simple 398123131 A . Pathogenic/Likely pathogenic 2 2 Citrullinemia type I 2016-09-01 7.2 2.5 Likely pathogenic 1 -92375 Simple 371265106 A . Pathogenic/Likely pathogenic 2 2 Citrullinemia type I 2016-06-01 6.6 3.0 Likely pathogenic 1 -92376 Simple 1057484 C . Benign/Likely benign 2 4 Citrullinemia type I;not specified 2016-08-15 -16.8 2.75 Benign/Likely benign 0 -92382 Simple 2227291 C . Benign 2 5 not specified 2016-08-15 -25.2 2.6 Benign 0 -92384 Simple 4826245 A . Benign 2 2 not specified 2016-02-05 -9.0 3.5 Benign/Likely benign 1 -92385 Simple 144616937 A . Benign 2 2 Menkes kinky-hair syndrome;Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;not specified 2016-11-28 -10.2 2.5 Benign/Likely benign 1 -92386 Simple 187046823 T . Uncertain significance 2 2 not specified;not provided 2016-11-30 -0.48 3.0 Uncertain significance 0 -92387 Simple 398123136 C . Benign/Likely benign 2 2 not specified 2013-02-08 -7.2 5.0 Likely benign 1 -92392 Simple 3815003 C . Benign/Likely benign 2 3 Bloom syndrome;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 0 -92393 Simple 2227935 T . Benign/Likely benign 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-12 -12.6 2.3333333333333335 Benign/Likely benign 0 -92394 Simple 2227933 A . Benign/Likely benign 2 4 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-10 -19.2 1.75 Benign/Likely benign 0 -92395 Simple 2227934 A . Benign/Likely benign 2 4 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-10 -19.2 1.75 Benign/Likely benign 0 -92396 Simple 1063147 T . Benign/Likely benign 2 4 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-10 -19.2 1.75 Benign/Likely benign 0 -92397 Simple 28384991 T . Benign/Likely benign 2 4 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -18.6 1.75 Benign/Likely benign 0 -92404 Simple 28364442 G . Benign/Likely benign 2 5 Limb-girdle muscular dystrophy, type 2A;not specified;not provided;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-01 -21.0 1.6 Benign/Likely benign 0 -92406 Simple 2241827 C . Benign 2 1 not specified 2012-08-24 . 5.0 . 0 -92408 Simple 201892814 G . Uncertain significance 2 3 Limb-girdle muscular dystrophy, type 2A;not specified 2017-10-12 -0.78 1.6666666666666667 Uncertain significance 0 -92416 Simple 117609395 T . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy, type 2A;not specified 2017-08-08 -13.8 1.0 Benign/Likely benign 0 -92417 Simple 17592 G . Benign/Likely benign 2 5 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -21.6 1.6 Benign/Likely benign 0 -92420 Simple 1801449 A . Benign 2 8 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-28 -43.2 1.875 Benign 0 -92422 Simple 1801496 C . Benign/Likely benign 2 6 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-28 -25.8 2.0 Benign 1 -92423 Simple 398123151 A . Pathogenic 2 3 Homocystinuria due to CBS deficiency;not provided 2017-03-16 14.4 2.6666666666666665 Pathogenic/Likely pathogenic 1 -92424 Simple 1801181 A . Benign 2 6 Homocystinuria;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -28.8 3.0 Benign 0 -92426 Simple 234706 A . Benign 2 5 Homocystinuria;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -24.6 2.8 Benign 0 -92427 Simple 398123152 CC . Pathogenic 2 4 Cutaneous malignant melanoma 1;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-08 21.0 2.0 Pathogenic 0 -92428 Simple 2229291 G . Benign/Likely benign 2 5 Carnitine palmitoyltransferase II deficiency, infantile;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL;Carnitine palmitoyltransferase II deficiency;not specified;not provided 2017-08-07 -22.2 1.2 Benign/Likely benign 0 -92429 Simple 1799821 A . Benign 2 3 Carnitine palmitoyltransferase II deficiency;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -92430 Simple 397509431 - . Pathogenic 2 4 Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;Carnitine palmitoyltransferase II deficiency;not provided 2017-03-30 21.0 2.0 Pathogenic 0 -92432 Simple 77565483 A . Benign 2 3 Carnitine palmitoyltransferase II deficiency;not specified 2017-08-04 -15.0 2.3333333333333335 Benign/Likely benign 1 -92433 Simple 1799822 G . Benign/Likely benign 2 4 Carnitine palmitoyltransferase II deficiency, infantile;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL;Carnitine palmitoyltransferase II deficiency;not specified 2017-08-01 -18.6 1.75 Benign/Likely benign 0 -92436 Simple 10012 C . Benign 2 2 not specified;Primary congenital glaucoma 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92437 Simple 1056827 A . Benign 2 2 not specified;Primary congenital glaucoma 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92442 Simple 62027051 C . Benign 2 2 Glutaric aciduria, type 2;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92443 Simple 1801591 A . Benign/Likely benign 2 3 Glutaric aciduria, type 2;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -92444 Simple 33929922 C . Benign/Likely benign 2 3 not specified;Hypertyrosinemia 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -92446 Simple 1370275 A . Benign 2 2 not specified;Hypertyrosinemia 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92448 Simple 398123160 A . Pathogenic 2 2 Hereditary leiomyomatosis and renal cell cancer;not provided 2017-01-17 10.2 2.5 Pathogenic/Likely pathogenic 1 -92451 Simple 200004220 G . Pathogenic/Likely pathogenic 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 16.8 1.5 Pathogenic 1 -92452 Simple 398123163 - . Pathogenic 2 5 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-11-03 28.2 1.2 Pathogenic 0 -92455 Simple 121913121 G . Pathogenic 2 4 Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-07-14 23.4 1.0 Pathogenic 0 -92456 Simple 398123166 C . Pathogenic 2 3 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided 2017-07-31 15.6 2.0 Pathogenic 0 -92457 Simple 398123167 A . Pathogenic 2 2 Fumarase deficiency;not provided 2017-02-28 10.2 2.5 Pathogenic/Likely pathogenic 1 -92458 Simple 398123168 A . Pathogenic/Likely pathogenic 2 3 Hereditary leiomyomatosis and renal cell cancer;not provided 2017-01-17 13.2 2.0 Pathogenic/Likely pathogenic 0 -92459 Simple 1800317 A . Benign/Likely benign 2 3 Glycogen storage disease, type II;not specified 2017-08-01 -13.2 1.6666666666666667 Benign/Likely benign 0 -92460 Simple 41292402 T . Benign/Likely benign 2 2 not specified 2015-02-05 -6.6 3.5 Likely benign 1 -92461 Simple 1800304 A . Benign 2 4 Glycogen storage disease, type II;not specified 2017-08-01 -21.0 2.0 Benign/Likely benign 1 -92462 Simple 2278619 G . Benign/Likely benign 2 2 not specified 2016-09-28 -7.8 2.0 Likely benign 1 -92463 Simple 1800305 T . Benign/Likely benign 2 4 Glycogen storage disease, type II;not specified 2017-08-01 -18.0 2.0 Benign/Likely benign 0 -92464 Simple 2304844 C . Benign 2 1 not specified 2015-02-12 . 3.0 . 0 -92466 Simple 1042396 A . Benign/Likely benign 2 4 Glycogen storage disease, type II;not specified 2017-08-01 -18.0 2.0 Benign/Likely benign 0 -92467 Simple 1800307 A . Benign/Likely benign, other 2 4 Glycogen storage disease, type II;not specified;not provided 2017-08-11 -18.6 2.0 Benign/Likely benign 0 -92468 Simple 2304840 A . Benign/Likely benign 2 2 Glycogen storage disease, type II;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -92470 Simple 2304836 G . Benign 2 1 not specified 2015-02-12 . 3.0 . 0 -92473 Simple 1800310 G . Benign/Likely benign 2 3 Glycogen storage disease, type II;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -92474 Simple 2304832 A . Benign 2 1 not specified 2015-02-12 . 3.0 . 0 -92476 Simple 1126690 A . Benign 2 3 Glycogen storage disease, type II;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -92477 Simple 1800314 A . Benign/Likely benign 2 3 Glycogen storage disease, type II;not specified 2017-08-01 -13.2 1.6666666666666667 Benign/Likely benign 0 -92481 Simple 1042397 A . Benign 2 3 Glycogen storage disease, type II;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -92482 Simple 1800315 T . Benign/Likely benign 2 5 Glycogen storage disease, type II;not specified 2017-08-08 -24.6 1.4 Benign 1 -92483 Simple 398123174 G . Pathogenic 2 2 Glycogen storage disease, type II;not provided 2016-11-09 9.6 3.0 Pathogenic/Likely pathogenic 1 -92484 Simple 1800300 C . Benign 2 5 Glycogen storage disease, type II;Primary ciliary dyskinesia;not specified 2017-08-01 -27.0 1.8 Benign 0 -92485 Simple 3816256 G . Benign 2 3 Glycogen storage disease, type II;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -92486 Simple 1042393 G . Benign 2 4 Glycogen storage disease, type II;not specified 2017-08-01 -21.0 2.0 Benign/Likely benign 1 -92487 Simple 1800301 T . Benign/Likely benign 2 4 Glycogen storage disease, type II;not specified 2017-08-01 -18.0 2.0 Benign/Likely benign 0 -92488 Simple 1042395 A . Benign/Likely benign 2 4 Glycogen storage disease, type II;not specified 2016-06-14 -17.4 2.75 Benign/Likely benign 0 -92489 Simple 3071247 AGCGGGC . Benign 2 3 Glycogen storage disease, type II;not specified 2017-08-01 -16.2 1.6666666666666667 Benign/Likely benign 1 -92490 Simple 1800303 T . Benign/Likely benign 2 4 Glycogen storage disease, type II;not specified 2017-08-01 -18.0 2.0 Benign/Likely benign 0 -92491 Simple 2252455 A . Benign 2 2 Glycogen storage disease, type II;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -92494 Simple 398076 A . Benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92495 Simple 34134328 C . Benign/Likely benign 2 3 Galactosylceramide beta-galactosidase deficiency;not specified;not provided 2017-06-16 -13.2 1.6666666666666667 Benign/Likely benign 0 -92496 Simple 12432149 A . Benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92497 Simple 398607 G . Benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92498 Simple 421466 A . Benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92499 Simple 448805 C . Benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92500 Simple 421262 C . Benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92501 Simple 74337989 T . Benign 2 1 not specified 2013-01-03 . 5.0 . 0 -92502 Simple 11552556 A . Benign/Likely benign 2 3 Galactosylceramide beta-galactosidase deficiency;not specified 2017-03-01 -12.6 2.3333333333333335 Benign/Likely benign 0 -92505 Simple 112992946 G . Benign/Likely benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -92506 Simple 1805078 A . Benign/Likely benign 2 3 Galactosylceramide beta-galactosidase deficiency;not specified 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -92508 Simple 111887056 G . Benign/Likely benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -92509 Simple 34362748 T . Benign/Likely benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -92510 Simple 111976362 T . Benign/Likely benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -92513 Simple 12888666 T . Benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92514 Simple 7211385 T . Benign/Likely benign 2 3 Deficiency of galactokinase;not specified 2017-05-08 -13.8 1.3333333333333333 Benign/Likely benign 0 -92522 Simple 368166217 T . Pathogenic/Likely pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided 2016-03-15 7.2 2.5 Likely pathogenic 1 -92529 Simple 1060218 T . Benign 2 2 not specified;Glutaric acidemia 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92531 Simple 141456457 C . Uncertain significance 2 2 Glutaric aciduria, type 1;not specified 2017-07-31 -0.48 2.5 Uncertain significance 0 -92538 Simple 398123198 - . Pathogenic 2 2 Fabry disease;not provided 2016-07-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -92548 Simple 398123208 T . Pathogenic 2 2 Fabry disease;not provided 2013-05-28 7.800000000000001 4.5 Likely pathogenic 2 -92550 Simple 104894834 A . Pathogenic 2 2 Fabry disease;not provided 2017-03-09 10.2 2.0 Pathogenic/Likely pathogenic 1 -92559 Simple 2071397 C . Benign 2 1 not specified 2016-01-12 . 2.0 . 0 -92570 Simple 398123224 A . Pathogenic 2 2 Fabry disease;not provided 2015-08-04 10.8 2.0 Pathogenic/Likely pathogenic 1 -92574 Simple 398123228 T . Pathogenic 2 3 Fabry disease;not provided 2017-05-30 13.2 3.3333333333333335 Pathogenic/Likely pathogenic 1 -92577 Simple 398123231 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-15 15.0 2.3333333333333335 Pathogenic 0 -92578 Simple 398123232 - . Pathogenic 2 5 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 26.400000000000002 1.8 Pathogenic 0 -92581 Simple 9905402 C . Benign/Likely benign 2 1 not specified;not provided 2016-06-23 . 1.0 . 0 -92582 Simple 3829789 T . Benign 2 1 not specified 2013-08-08 . 4.0 . 0 -92583 Simple 781143 C . Benign 2 1 not specified 2013-10-14 . 4.0 . 0 -92586 Simple 74975849 A . Benign/Likely benign 2 2 Mucopolysaccharidosis type VII;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -92587 Simple 1061361 A . Benign/Likely benign 2 2 Mucopolysaccharidosis type VII;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -92588 Simple 9530 G . Benign 2 3 Mucopolysaccharidosis type VII;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -92596 Simple 11552518 A . Benign 2 4 Mitochondrial trifunctional protein deficiency;not specified;LCHAD Deficiency 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -92597 Simple 2303893 T . Benign 2 3 Mitochondrial trifunctional protein deficiency;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -92599 Simple 151302743 G . Uncertain significance 2 2 Mitochondrial trifunctional protein deficiency;not specified 2016-06-28 -0.6 1.0 Uncertain significance 0 -92600 Simple 1064793144 CTACTA . Benign 2 5 Mitochondrial trifunctional protein deficiency;not specified;not provided 2016-06-14 -26.4 2.2 Benign 0 -92602 Simple 719400 C . Benign 2 3 Deficiency of hydroxymethylglutaryl-CoA lyase;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -92607 Simple 9894254 T . Benign/Likely benign 2 2 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 -7.2 2.5 Likely benign 1 -92609 Simple 62620232 T . Benign 2 1 not specified 2013-10-23 . 4.0 . 0 -92610 Simple 7503034 T . Benign 2 2 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92612 Simple 6565647 G . Benign 2 1 not specified 2013-08-06 . 4.0 . 0 -92617 Simple 113993949 T . Pathogenic 2 2 Mucopolysaccharidosis, MPS-II 2012-09-05 6.6 7.5 Likely pathogenic 2 -92618 Simple 398123249 A . Pathogenic 2 2 Mucopolysaccharidosis, MPS-II 2017-08-14 9.6 2.5 Pathogenic/Likely pathogenic 1 -92619 Simple 1141608 A . Benign 2 2 Mucopolysaccharidosis, MPS-II;not specified 2013-08-08 -7.2 7.0 Likely benign 2 -92624 Simple 6831280 A . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92625 Simple 6836258 C . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92628 Simple 115790973 G . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92630 Simple 73066479 A . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92632 Simple 115929690 T . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92637 Simple 148775298 G . Benign/Likely benign, other 2 0 Mucopolysaccharidosis type I;not specified;not provided 2017-08-08 . . . 0 -92638 Simple 11248061 A . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -92640 Simple 147498923 T . Benign/Likely benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -92641 Simple 3755955 A . Benign/Likely benign 2 3 Mucopolysaccharidosis type I;not specified 2016-11-02 -14.4 1.3333333333333333 Benign/Likely benign 0 -92642 Simple 3755954 T . Benign/Likely benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -92645 Simple 6815946 C . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92646 Simple 6848974 T . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92647 Simple 10902762 A . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -92649 Simple 114806891 T . Benign/Likely benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -92650 Simple 6830825 C . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92651 Simple 10794537 G . Benign 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -92652 Simple 9510701 T . Benign/Likely benign 2 6 Severe autosomal recessive muscular dystrophy of childhood - North African type;Spastic ataxia Charlevoix-Saguenay type;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -23.4 2.0 Benign/Likely benign 0 -92653 Simple 1800350 C . Benign/Likely benign 2 7 Severe autosomal recessive muscular dystrophy of childhood - North African type;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-14 -30.0 2.2857142857142856 Benign 1 -92654 Simple 1800351 G . Benign 2 7 Severe autosomal recessive muscular dystrophy of childhood - North African type;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-14 -36.6 2.142857142857143 Benign 0 -92655 Simple 17314986 A . Benign/Likely benign 2 6 Severe autosomal recessive muscular dystrophy of childhood - North African type;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-14 -27.6 1.5 Benign 1 -92656 Simple 9580603 C . Benign 2 2 not specified 2016-03-22 -10.2 2.5 Benign/Likely benign 1 -92657 Simple 1800353 C . Benign/Likely benign 2 8 Severe autosomal recessive muscular dystrophy of childhood - North African type;Spastic ataxia Charlevoix-Saguenay type;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-13 -39.6 2.0 Benign 1 -92661 Simple 398123263 G . Uncertain significance 2 3 Beta-sarcoglycanopathy;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -92662 Simple 115928999 A . Benign/Likely benign 2 2 Limb-girdle muscular dystrophy, type 2E;not specified 2017-06-06 -7.2 2.0 Likely benign 1 -92669 Simple 222410 A . Benign/Likely benign 2 5 not specified 2016-03-04 -23.1 2.6 Benign/Likely benign 0 -92674 Simple 398123271 AACTGGA . Uncertain significance 2 2 not specified;not provided 2017-06-01 -0.51 2.0 Uncertain significance 0 -92680 Simple 2229385 T . Benign/Likely benign 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;Methylmalonic acidemia;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -92681 Simple 1141321 T . Benign/Likely benign 2 3 Methylmalonic acidemia;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -92684 Simple 144146728 T . Benign 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not specified 2017-07-10 -9.6 2.5 Benign/Likely benign 1 -92685 Simple 8589 C . Benign 2 3 Methylmalonic acidemia;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -92687 Simple 2229384 T . Benign 2 4 Methylmalonic acidemia;not specified 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -92688 Simple 398123278 A . Pathogenic 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided 2016-12-01 9.0 3.5 Pathogenic/Likely pathogenic 1 -92689 Simple 398123279 - . Pathogenic/Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided 2016-11-01 17.7 2.5 Pathogenic 1 -92693 Simple 86312 G . Benign 2 2 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92694 Simple 659497 C . Benign 2 2 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92698 Simple 62637631 A . Benign/Likely benign 2 5 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-11 -19.2 1.4 Benign/Likely benign 0 -92699 Simple 398123283 A . Pathogenic 2 2 not provided 2016-10-28 9.6 3.0 Pathogenic/Likely pathogenic 1 -92700 Simple 61731962 A . Benign/Likely benign 2 4 Niemann-Pick disease type C1;Niemann-Pick disease, type C;not specified 2017-07-18 -15.9 1.75 Benign/Likely benign 0 -92701 Simple 1788799 G . Benign/Likely benign 2 3 Niemann-Pick disease, type C;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -92704 Simple 3745024 A . Benign 2 2 Niemann-Pick disease, type C;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92705 Simple 66620415 G . Benign/Likely benign 2 2 Niemann-Pick disease type C1;not specified 2017-07-27 -8.4 1.0 Benign/Likely benign 0 -92706 Simple 398123284 AA . Pathogenic 2 3 Niemann-Pick disease type C1 2016-08-18 15.6 2.3333333333333335 Pathogenic 0 -92707 Simple 73392120 A . Benign/Likely benign 2 3 Niemann-Pick disease type C1;Niemann-Pick disease, type C;not specified 2017-07-18 -13.2 1.6666666666666667 Benign/Likely benign 0 -92710 Simple 6507717 T . Benign 2 1 not specified 2013-04-05 . 4.0 . 0 -92714 Simple 1805081 C . Benign/Likely benign 2 3 Niemann-Pick disease, type C;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -92717 Simple 145479679 G . Benign/Likely benign 2 1 not specified 2013-10-04 . 4.0 . 0 -92719 Simple 11675767 T . Benign/Likely benign 2 5 Joubert syndrome;Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -29.4 1.2 Benign 1 -92727 Simple 62516092 C . Pathogenic 2 5 Phenylketonuria;not provided 2017-02-28 28.2 1.6 Pathogenic 0 -92729 Simple 62516095 T . Pathogenic 2 3 Phenylketonuria;not provided 2017-05-05 15.0 2.3333333333333335 Pathogenic 0 -92731 Simple 5030857 A . Pathogenic 2 6 Phenylketonuria;not provided 2017-07-14 32.4 1.6666666666666667 Pathogenic 0 -92732 Simple 59326968 G . Benign/Likely benign 2 4 Phenylketonuria;not specified;not provided 2017-07-10 -18.6 1.75 Benign/Likely benign 0 -92734 Simple 199475598 C . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2017-05-18 9.0 2.6666666666666665 Pathogenic/Likely pathogenic 0 -92736 Simple 17842947 G . Benign 2 1 not specified;not provided 2015-12-22 . 2.0 . 0 -92738 Simple 76394784 A . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2017-06-29 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -92742 Simple 62507321 A . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2017-05-18 13.8 1.0 Pathogenic/Likely pathogenic 0 -92744 Simple 199475655 C . Pathogenic 2 3 Phenylketonuria;not provided 2017-07-21 16.2 1.6666666666666667 Pathogenic 0 -92746 Simple 77958223 C . Pathogenic 2 3 Phenylketonuria;not provided 2017-05-02 15.600000000000001 2.0 Pathogenic 0 -92747 Simple 62516109 G . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2016-12-06 12.0 3.0 Pathogenic/Likely pathogenic 0 -92748 Simple 1042503 T . Benign 2 2 Phenylketonuria;not specified;not provided 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92750 Simple 62642939 T . Pathogenic 2 2 Phenylketonuria;not provided 2015-11-17 9.0 3.5 Pathogenic/Likely pathogenic 1 -92751 Simple 5030853 A . Pathogenic 2 6 Phenylketonuria;not provided 2017-08-04 34.2 1.0 Pathogenic 0 -92752 Simple 62514956 T . Pathogenic 2 2 Phenylketonuria;not provided 2016-03-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -92753 Simple 62642935 A . Pathogenic/Likely pathogenic 2 4 Phenylketonuria;not provided 2017-05-26 18.6 1.5 Pathogenic 1 -92755 Simple 1522306 A . Benign 2 1 not specified;not provided 2013-02-22 . 5.0 . 0 -92758 Simple 398123295 T . Pathogenic 2 2 Aniridia 1;not provided 2016-04-19 10.2 2.5 Pathogenic/Likely pathogenic 1 -92761 Simple 35719359 G . Benign/Likely benign 2 4 Propionic acidemia;not specified 2017-04-06 -18.0 2.0 Benign/Likely benign 0 -92765 Simple 4306370 G . Benign 2 1 not specified 2014-06-11 . 3.0 . 0 -92768 Simple 149293844 T . Benign/Likely benign 2 3 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -92770 Simple 398123300 T . Pathogenic/Likely pathogenic 2 2 not provided 2015-10-15 6.300000000000001 3.5 Likely pathogenic 1 -92771 Simple 7058209 A . Benign 2 2 not specified 2012-08-09 -6.6 5.5 Likely benign 2 -92772 Simple 1126565 G . Benign/Likely benign 2 2 not specified 2012-08-09 -6.6 5.5 Likely benign 1 -92773 Simple 147530802 A . Benign/Likely benign 2 3 not specified;not provided 2017-09-18 -13.8 1.3333333333333333 Benign/Likely benign 0 -92774 Simple 138731505 A . Benign/Likely benign 2 2 not specified 2015-07-20 -6.9 3.0 Likely benign 1 -92776 Simple 398123301 - . Pathogenic 2 4 Infantile Refsum's disease;Peroxisome biogenesis disorder 3A;not provided 2017-01-10 22.2 1.75 Pathogenic 0 -92777 Simple 398123302 - . Pathogenic 2 2 not provided 2015-12-17 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -92781 Simple 2274514 T . Benign 2 1 not specified 2013-12-23 . 4.0 . 0 -92782 Simple 11539736 A . Benign/Likely benign 2 2 Zellweger syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -92784 Simple 61752141 G . Benign/Likely benign 2 2 Zellweger syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -92785 Simple 2274515 T . Benign/Likely benign 2 2 Zellweger syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -92786 Simple 1129186 T . Benign 2 2 Zellweger syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92787 Simple 1129187 T . Benign 2 2 Zellweger syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -92789 Simple 9462858 A . Benign 2 2 Zellweger syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -92791 Simple 9986447 G . Benign 2 2 Zellweger syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92792 Simple 17013754 G . Benign/Likely benign 2 3 Polycystic kidney disease, autosomal dominant;not specified 2017-08-02 -14.4 1.0 Benign/Likely benign 0 -92795 Simple 2728118 A . Benign/Likely benign 2 4 Polycystic kidney disease, autosomal dominant;not specified 2016-09-20 -21.0 1.0 Benign/Likely benign 0 -92796 Simple 117078377 A . Benign/Likely benign 2 4 Polycystic kidney disease, autosomal dominant;not specified 2016-06-23 -21.0 1.0 Benign/Likely benign 0 -92798 Simple 1805044 C . Benign/Likely benign 2 4 Polycystic kidney disease, autosomal dominant;not specified 2016-06-14 -20.4 1.25 Benign/Likely benign 0 -92800 Simple 200503569 T . Pathogenic/Likely pathogenic 2 2 Carbohydrate-deficient glycoprotein syndrome type I;not provided 2017-07-05 8.1 2.0 Likely pathogenic 1 -92802 Simple 11074924 C . Benign 2 1 not specified 2015-08-11 . 2.0 . 0 -92803 Simple 34258285 C . Benign/Likely benign 2 4 Congenital disorder of glycosylation;not specified 2016-06-14 -15.0 2.25 Benign/Likely benign 0 -92807 Simple 398123312 GC . Pathogenic/Likely pathogenic 2 2 Carbohydrate-deficient glycoprotein syndrome type I 2014-12-24 6.0 4.0 Likely pathogenic 1 -92808 Simple 11202592 G . Benign/Likely benign 2 6 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -29.4 2.0 Benign 1 -92810 Simple 555895 G . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -92813 Simple 150651961 T . Benign/Likely benign 2 8 PTEN hamartoma tumor syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 -30.3 1.5 Benign 1 -92828 Simple 121913289 - . Pathogenic 2 3 PTEN hamartoma tumor syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal Neoplasms 2016-07-22 16.8 1.6666666666666667 Pathogenic 0 -92831 Simple 34003473 TT . Benign 2 2 PTEN hamartoma tumor syndrome;not specified;not provided 2016-03-18 -10.8 2.0 Benign/Likely benign 1 -92832 Simple 397846349 TTTT . Benign/Likely benign 2 2 not specified;not provided;Hereditary cancer-predisposing syndrome 2014-11-25 -7.199999999999999 3.0 Likely benign 1 -92836 Simple 398123330 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2013-09-09 8.4 4.0 Pathogenic/Likely pathogenic 1 -92838 Simple 149287302 C . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -92839 Simple 398123331 T . Pathogenic 2 4 Retinoblastoma;not provided;Hereditary cancer-predisposing syndrome 2017-05-15 22.2 1.5 Pathogenic 0 -92842 Simple 143105337 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -0.51 2.0 Uncertain significance 0 -92843 Simple 3092904 A . Benign 2 4 Retinoblastoma;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -92844 Simple 187110786 G . Benign/Likely benign 2 4 Retinoblastoma;not specified 2017-11-01 -16.2 1.25 Benign/Likely benign 0 -92845 Simple 3092881 C . Benign/Likely benign 2 3 Retinoblastoma;not specified 2016-12-27 -10.2 2.0 Benign/Likely benign 0 -92846 Simple 7764439 G . Benign/Likely benign 2 8 Patterned dystrophy of retinal pigment epithelium;not specified;Vitelliform macular dystrophy;Fundus albipunctatus;Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant 2016-06-14 -25.2 2.0 Benign 1 -92849 Simple 1801686 T . Benign 2 2 not specified;not provided 2015-01-13 -8.4 4.0 Benign/Likely benign 1 -92850 Simple 144635565 C . Benign 2 3 Primary ciliary dyskinesia;not specified;not provided 2017-07-28 -16.2 1.6666666666666667 Benign/Likely benign 1 -92852 Simple 62635008 C . Benign 2 2 not specified;not provided 2016-03-28 -10.8 2.0 Benign/Likely benign 1 -92853 Simple 62653033 - . Benign 2 3 Primary ciliary dyskinesia;not specified;not provided 2017-08-14 -15.600000000000001 2.0 Benign/Likely benign 1 -92854 Simple 41312104 A . Benign 2 3 Primary ciliary dyskinesia;not specified;not provided 2017-08-14 -15.0 2.3333333333333335 Benign/Likely benign 1 -92855 Simple 1801688 T . Benign 2 2 not specified;not provided 2015-01-13 -9.0 3.5 Benign/Likely benign 1 -92856 Simple 6651585 T . Benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 1 -92859 Simple 61752901 G . Benign 2 3 Leber congenital amaurosis 2;Retinitis pigmentosa 20;not specified;not provided 2017-03-16 -16.2 1.6666666666666667 Benign/Likely benign 1 -92861 Simple 79893125 G . Benign/Likely benign 2 9 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-09 -51.6 1.2222222222222223 Benign 1 -92863 Simple 56342400 T . Benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-04-14 -44.4 1.625 Benign 0 -92864 Simple 2070720 C . Benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-04-14 -44.4 1.625 Benign 0 -92867 Simple 61750120 A . Pathogenic/Likely pathogenic 2 3 Stargardt disease 1;not provided 2016-03-28 14.100000000000001 1.6666666666666667 Pathogenic/Likely pathogenic 0 -92871 Simple 398123339 C . Pathogenic 2 2 Stargardt disease 1;Visual impairment;Central scotoma;Macular degeneration;Retinal atrophy 2016-06-12 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -92872 Simple 398123340 - . Benign 2 2 Ataxia with vitamin E deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -92878 Simple 147106995 A . Benign 2 3 not specified 2016-12-29 -15.0 2.6666666666666665 Benign/Likely benign 1 -92879 Simple 7391874 T . Benign 2 2 not specified 2016-08-22 -10.2 2.5 Benign/Likely benign 1 -92883 Simple 6414612 G . Benign 2 2 not specified 2016-03-02 -9.600000000000001 3.0 Benign/Likely benign 1 -92888 Simple 6692104 C . Benign/Likely benign 2 2 UDPglucose-4-epimerase deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -92889 Simple 760941 T . Benign 2 2 UDPglucose-4-epimerase deficiency;not specified 2016-06-20 -12.0 1.0 Benign/Likely benign 1 -92894 Simple 13093698 G . Benign/Likely benign 2 3 GM1 gangliosidosis;Morquio syndrome;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -92895 Simple 34421970 A . Benign/Likely benign 2 2 not specified 2015-11-23 -10.8 2.0 Benign/Likely benign 0 -92897 Simple 113534264 A . Uncertain significance 2 3 GM1 gangliosidosis;Morquio syndrome;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -92899 Simple 73826339 C . Benign/Likely benign 2 4 Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis;Morquio syndrome;GM1 Gangliosidosis;not specified 2017-06-23 -17.4 1.0 Benign/Likely benign 0 -92902 Simple 77226678 G . Benign 2 3 GM1 gangliosidosis;Morquio syndrome;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -92904 Simple 7637099 A . Benign/Likely benign 2 3 GM1 gangliosidosis;Morquio syndrome;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -92905 Simple 7614776 G . Benign/Likely benign 2 3 GM1 gangliosidosis;Morquio syndrome;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -92909 Simple 34204221 G . Benign/Likely benign 2 4 GM1 gangliosidosis;Morquio syndrome;not specified 2016-09-20 -15.6 2.0 Benign/Likely benign 0 -92914 Simple 79518579 A . Benign/Likely benign 2 3 GM1 gangliosidosis;Morquio syndrome;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -92915 Simple 140568778 - . Benign/Likely benign 2 3 Holocarboxylase synthetase deficiency;not specified 2017-11-06 -12.6 2.0 Benign/Likely benign 0 -92916 Simple 1065758 A . Benign/Likely benign 2 2 Holocarboxylase synthetase deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -92918 Simple 112841948 A . Benign 2 3 not specified;Spastic paraplegia 2017-08-01 -14.4 2.6666666666666665 Benign/Likely benign 1 -92919 Simple 140240430 A . Benign 2 2 not specified 2013-11-18 -8.4 4.0 Benign/Likely benign 1 -92921 Simple 5987174 T . Benign 2 2 not specified 2013-08-01 -8.4 4.0 Benign/Likely benign 1 -92923 Simple 7885771 A . Benign 2 3 not specified;Spastic paraplegia 2017-08-01 -14.4 2.6666666666666665 Benign/Likely benign 1 -92925 Simple 5987173 A . Benign 2 3 not specified;Spastic paraplegia 2017-06-19 -16.2 1.6666666666666667 Benign/Likely benign 1 -92927 Simple 398123363 T . Uncertain significance 2 2 not specified 2014-12-18 -0.42 4.0 Uncertain significance 0 -92928 Simple 35902890 C . Benign 2 4 not specified;not provided;Spastic paraplegia 2016-07-25 -19.8 2.75 Benign/Likely benign 1 -92930 Simple 144605615 A . Benign 2 3 not specified;not provided 2015-11-23 -15.0 2.6666666666666665 Benign/Likely benign 1 -92934 Simple 35151382 T . Benign 2 3 not specified;Spastic paraplegia 2016-07-25 -14.4 3.0 Benign/Likely benign 1 -92938 Simple 1140366 T . Benign/Likely benign 2 5 Merosin deficient congenital muscular dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-04-13 -22.2 2.4 Benign/Likely benign 0 -92940 Simple 118083923 A . Benign/Likely benign 2 4 Laminin alpha 2-related dystrophy;not specified;not provided 2017-07-21 -16.2 1.25 Benign/Likely benign 0 -92941 Simple 36044314 A . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified 2017-08-09 -14.4 2.6666666666666665 Benign/Likely benign 0 -92943 Simple 3816665 A . Benign 2 5 Merosin deficient congenital muscular dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-04-13 -27.0 1.8 Benign 0 -92948 Simple 35277491 T . Benign/Likely benign 2 5 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-08-08 -22.8 2.2 Benign/Likely benign 0 -92949 Simple 1027199 G . Benign 2 5 Merosin deficient congenital muscular dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-04-13 -25.2 2.4 Benign 0 -92951 Simple 3798663 A . Benign 2 3 not specified;Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -92952 Simple 2306942 A . Benign/Likely benign 2 4 not specified;Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -92954 Simple 398123372 - . Pathogenic 2 2 Merosin deficient congenital muscular dystrophy;not provided 2017-10-23 12.0 0.5 Pathogenic/Likely pathogenic 1 -92955 Simple 4404787 A . Benign 2 5 Merosin deficient congenital muscular dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-04-13 -27.0 1.8 Benign 0 -92956 Simple 398123373 T . Pathogenic 2 2 Merosin deficient congenital muscular dystrophy;not provided 2017-07-03 10.8 1.5 Pathogenic/Likely pathogenic 1 -92958 Simple 41285288 A . Benign/Likely benign 2 5 Laminin alpha 2-related dystrophy;not specified;not provided 2017-09-18 -21.6 1.4 Benign/Likely benign 0 -92959 Simple 35089085 T . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified 2017-07-21 -13.2 1.3333333333333333 Benign/Likely benign 0 -92960 Simple 17057158 T . Benign 2 2 not specified 2016-02-03 -9.0 3.5 Benign/Likely benign 1 -92962 Simple 117781224 A . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified 2017-08-07 -15.0 2.3333333333333335 Benign/Likely benign 0 -92963 Simple 17057184 G . Benign/Likely benign 2 5 Merosin deficient congenital muscular dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-04-13 -22.2 2.4 Benign/Likely benign 0 -92965 Simple 398123376 - . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-07-27 -14.4 1.0 Benign/Likely benign 0 -92966 Simple 3749877 G . Benign 2 5 Merosin deficient congenital muscular dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-04-13 -25.2 2.4 Benign 0 -92967 Simple 3749878 A . Benign 2 4 not specified;Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -92968 Simple 56173620 A . Benign/Likely benign 2 4 Laminin alpha 2-related dystrophy;not specified;not provided 2017-07-26 -15.6 1.75 Benign/Likely benign 0 -92971 Simple 398123378 T . Pathogenic 2 2 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy 2017-08-16 10.8 1.5 Pathogenic/Likely pathogenic 1 -92974 Simple 114766691 C . Benign/Likely benign 2 4 Laminin alpha 2-related dystrophy;not specified 2017-08-10 -19.2 1.25 Benign/Likely benign 0 -92975 Simple 2297738 A . Benign/Likely benign 2 4 not specified;Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -92978 Simple 372592018 A . Uncertain significance 2 3 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-07-17 -0.78 2.0 Uncertain significance 0 -92983 Simple 398123385 - . Pathogenic 2 2 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy 2017-05-08 10.2 2.0 Pathogenic/Likely pathogenic 1 -92987 Simple 2229849 C . Benign 2 5 Merosin deficient congenital muscular dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-04-13 -27.0 1.8 Benign 0 -92988 Simple 2229850 A . Benign 2 4 not specified;Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -92989 Simple 2244008 G . Benign/Likely benign 2 4 not specified;Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -92991 Simple 113644365 C . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified 2017-07-28 -15.0 2.3333333333333335 Benign/Likely benign 0 -92994 Simple 398123390 AACAAACA . Pathogenic 2 2 Merosin deficient congenital muscular dystrophy;not provided 2017-06-30 10.2 2.0 Pathogenic/Likely pathogenic 1 -92996 Simple 1803915 C . Benign 2 2 not specified 2013-10-10 -7.800000000000001 4.5 Likely benign 2 -92998 Simple 116237011 T . Benign/Likely benign 2 4 not specified;Lissencephaly/Subcortical Band Heterotopia 2016-06-14 -15.600000000000001 3.25 Benign/Likely benign 0 -92999 Simple 77153143 C . Benign/Likely benign 2 4 not specified;Lissencephaly/Subcortical Band Heterotopia 2016-06-14 -15.0 3.5 Benign/Likely benign 0 -93000 Simple 150380620 G . Likely benign 2 3 not specified;Lissencephaly/Subcortical Band Heterotopia 2016-06-14 -8.1 2.0 Likely benign 0 -93002 Simple 200129807 C . Uncertain significance 2 2 Succinyl-CoA acetoacetate transferase deficiency;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -93003 Simple 144283422 A . Uncertain significance 2 2 Succinyl-CoA acetoacetate transferase deficiency;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -93004 Simple 7723992 G . Benign 2 2 Succinyl-CoA acetoacetate transferase deficiency;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -93011 Simple 398123394 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-08-15 -0.6 1.0 Uncertain significance 0 -93012 Simple 1065837 A . Benign 2 2 not specified 2016-01-19 -10.2 2.5 Benign/Likely benign 1 -93014 Simple 77303974 A . Benign/Likely benign 2 6 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-19 -23.7 0.6666666666666666 Benign/Likely benign 0 -93015 Simple 28657061 A . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -21.0 2.0 Benign/Likely benign 0 -93017 Simple 201765507 T . Uncertain significance 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-19 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -93018 Simple 6992333 G . Benign/Likely benign 2 2 not specified 2015-01-13 -9.6 3.0 Benign/Likely benign 0 -93020 Simple 6984820 T . Benign/Likely benign 2 2 not specified 2015-01-13 -9.6 3.0 Benign/Likely benign 0 -93022 Simple 7819099 G . Benign/Likely benign 2 2 not specified 2015-01-13 -9.6 3.0 Benign/Likely benign 0 -93023 Simple 7822511 C . Benign/Likely benign 2 2 not specified 2016-02-12 -10.2 2.5 Benign/Likely benign 0 -93025 Simple 6558406 C . Benign/Likely benign 2 3 not specified 2016-03-28 -15.0 2.6666666666666665 Benign/Likely benign 0 -93026 Simple 148865812 A . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-17 -16.2 1.6666666666666667 Benign/Likely benign 1 -93028 Simple 11998271 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -15.0 2.3333333333333335 Benign/Likely benign 0 -93029 Simple 142946078 T . Benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-26 -10.2 2.0 Benign/Likely benign 1 -93030 Simple 6558405 C . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93031 Simple 187810163 A . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-11 -21.0 2.0 Benign/Likely benign 0 -93032 Simple 112322162 T . Benign/Likely benign 2 2 not specified 2017-06-16 -7.2 2.0 Likely benign 1 -93033 Simple 7014582 G . Benign/Likely benign 2 2 not specified 2016-01-19 -10.2 2.5 Benign/Likely benign 0 -93034 Simple 398123396 T . Benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-03-28 -11.4 1.0 Benign/Likely benign 1 -93035 Simple 10866916 C . Benign 2 3 not specified 2016-01-05 -14.4 3.0 Benign/Likely benign 1 -93036 Simple 114256617 C . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -16.2 1.6666666666666667 Benign/Likely benign 0 -93039 Simple 142120912 - . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-28 -16.2 1.3333333333333333 Benign/Likely benign 0 -93041 Simple 11991798 T . Benign 2 3 not specified 2016-05-24 -15.0 2.6666666666666665 Benign/Likely benign 1 -93042 Simple 145376880 A . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-13 -17.4 1.0 Benign/Likely benign 1 -93043 Simple 11991764 T . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -21.0 2.0 Benign/Likely benign 0 -93044 Simple 3135109 G . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93045 Simple 144610086 A . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-24 -16.8 1.3333333333333333 Benign/Likely benign 1 -93046 Simple 11136334 T . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93047 Simple 11136333 C . Benign/Likely benign 2 4 not specified 2016-03-28 -20.4 2.5 Benign/Likely benign 0 -93048 Simple 57461687 C . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -10.2 2.0 Benign/Likely benign 0 -93049 Simple 7002152 C . Benign/Likely benign 2 4 not specified 2016-03-28 -20.4 2.5 Benign/Likely benign 0 -93050 Simple 35916068 G . Benign/Likely benign 2 2 not specified 2016-05-06 -10.8 2.0 Benign/Likely benign 0 -93051 Simple 56117011 C . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93052 Simple 55646585 T . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93053 Simple 182120395 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-30 -14.4 0.6666666666666666 Benign/Likely benign 0 -93054 Simple 79705634 T . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -21.0 2.0 Benign/Likely benign 0 -93055 Simple 62642470 T . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -10.2 2.0 Benign/Likely benign 0 -93056 Simple 55836855 T . Benign/Likely benign 2 2 not specified 2015-01-13 -9.6 3.0 Benign/Likely benign 0 -93058 Simple 182961574 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-25 -15.0 0.6666666666666666 Benign/Likely benign 0 -93059 Simple 377665141 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-27 -13.2 1.3333333333333333 Benign/Likely benign 0 -93060 Simple 140406501 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-11 -15.600000000000001 2.0 Benign/Likely benign 0 -93063 Simple 147838690 T . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy 2017-08-07 -22.2 1.5 Benign/Likely benign 0 -93064 Simple 75586449 T . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93066 Simple 62642469 T . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -22.2 1.5 Benign/Likely benign 0 -93067 Simple 2857829 G . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93068 Simple 1140522 T . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93069 Simple 398123401 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-10-10 -0.51 2.5 Uncertain significance 0 -93070 Simple 376365984 C . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-10-18 -20.4 1.25 Benign/Likely benign 0 -93071 Simple 7002002 A . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93072 Simple 74772299 A . Benign/Likely benign 2 3 not specified 2016-03-04 -15.600000000000001 2.3333333333333335 Benign/Likely benign 0 -93073 Simple 7016416 T . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93074 Simple 184102912 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-25 -13.2 1.6666666666666667 Benign/Likely benign 0 -93075 Simple 28610521 A . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -21.0 2.0 Benign/Likely benign 0 -93076 Simple 62641756 T . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-25 -17.4 1.0 Benign/Likely benign 0 -93077 Simple 146381488 T . Benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-04 -12.0 0.5 Benign/Likely benign 1 -93078 Simple 11778026 G . Benign/Likely benign 2 3 not specified 2016-01-05 -14.4 3.0 Benign/Likely benign 0 -93080 Simple 34803322 T . Benign/Likely benign 2 3 not specified 2016-03-04 -14.4 3.0 Benign/Likely benign 0 -93081 Simple 184879368 C . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-25 -17.4 1.0 Benign/Likely benign 0 -93082 Simple 12545876 A . Benign/Likely benign 2 3 not specified 2016-01-05 -14.4 3.0 Benign/Likely benign 0 -93083 Simple 7833924 G . Benign/Likely benign 2 3 not specified 2016-11-18 -15.0 2.6666666666666665 Benign/Likely benign 0 -93084 Simple 11777402 A . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93085 Simple 62641758 C . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-27 -16.2 1.6666666666666667 Benign/Likely benign 1 -93086 Simple 371421350 G . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-25 -14.4 1.0 Benign/Likely benign 0 -93087 Simple 6558407 T . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93088 Simple 35027700 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -16.2 1.6666666666666667 Benign/Likely benign 0 -93089 Simple 35858667 A . Benign/Likely benign 2 2 not specified 2015-01-13 -9.0 3.5 Benign/Likely benign 0 -93090 Simple 188076386 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-27 -13.2 1.3333333333333333 Benign/Likely benign 0 -93091 Simple 34644439 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -15.600000000000001 2.0 Benign/Likely benign 0 -93092 Simple 2239402 G . Benign 2 2 not specified 2017-07-13 -12.0 0.5 Benign/Likely benign 1 -93095 Simple 146304983 C . Uncertain significance 2 2 not specified 2017-03-01 -0.51 2.5 Uncertain significance 0 -93096 Simple 398123404 GG . Pathogenic 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2015-01-08 9.0 3.5 Pathogenic/Likely pathogenic 1 -93097 Simple 56354945 A . Benign/Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -23.4 2.0 Benign/Likely benign 0 -93099 Simple 2075607 C . Benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-20 -27.6 1.6 Benign 0 -93105 Simple 10278857 T . Benign/Likely benign 2 3 Zellweger syndrome;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 0 -93108 Simple 144825021 T . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -93109 Simple 111704518 T . Benign 2 1 not specified 2013-07-26 . 4.0 . 0 -93112 Simple 38809 T . Benign 2 3 Zellweger syndrome;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -93115 Simple 398123411 C . Pathogenic 2 2 Metachromatic leukodystrophy;not provided 2015-07-09 9.0 3.5 Pathogenic/Likely pathogenic 1 -93117 Simple 6151425 A . Benign/Likely benign 2 3 Metachromatic leukodystrophy;not specified 2017-07-10 -13.2 1.6666666666666667 Benign/Likely benign 0 -93118 Simple 762674 C . Benign 2 2 not specified;not provided 2016-10-11 -12.0 1.0 Benign/Likely benign 1 -93120 Simple 6151428 T . Benign/Likely benign 2 2 Metachromatic leukodystrophy;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -93121 Simple 398123414 - . Pathogenic 2 2 Metachromatic leukodystrophy 2017-05-01 9.6 2.5 Pathogenic/Likely pathogenic 1 -93123 Simple 6151412 A . Benign/Likely benign 2 4 Metachromatic leukodystrophy;not specified 2017-07-30 -19.2 1.25 Benign/Likely benign 0 -93125 Simple 6151415 A . Benign/Likely benign 2 3 Metachromatic leukodystrophy;not specified 2017-06-29 -14.4 1.0 Benign/Likely benign 0 -93126 Simple 200182983 A . Benign/Likely benign 2 1 not specified 2012-11-26 . 5.0 . 0 -93132 Simple 35738915 C . Benign/Likely benign 2 2 ATR-X syndrome;not specified 2017-05-18 -9.6 2.5 Benign/Likely benign 0 -93134 Simple 61752455 C . Benign 2 4 ATR-X syndrome;not specified;not provided 2017-08-03 -21.0 1.75 Benign/Likely benign 1 -93136 Simple 45574238 C . Benign 2 3 ATR-X syndrome;not specified 2017-08-16 -14.4 2.6666666666666665 Benign/Likely benign 1 -93137 Simple 398123423 - . Benign/Likely benign 2 3 not specified 2017-01-05 -13.2 2.0 Benign/Likely benign 0 -93138 Simple 148975763 T . Benign/Likely benign 2 3 ATR-X syndrome;not specified 2017-08-04 -13.5 1.6666666666666667 Benign/Likely benign 0 -93140 Simple 25641 G . Benign/Likely benign 2 2 ATR-X syndrome;not specified 2017-08-12 -10.2 2.0 Benign/Likely benign 0 -93141 Simple 398123425 C . Pathogenic 2 2 not provided 2016-06-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -93148 Simple 1800501 C . Benign/Likely benign 2 4 Cystic fibrosis;not specified 2016-10-14 -18.0 2.25 Benign/Likely benign 0 -93153 Simple 1800130 G . Benign/Likely benign 2 4 Cystic fibrosis;Hereditary pancreatitis;not specified 2016-11-07 -18.0 2.25 Benign/Likely benign 0 -93155 Simple 76179227 G . Benign/Likely benign 2 4 Cystic fibrosis;not specified 2017-07-03 -18.9 1.75 Benign/Likely benign 0 -93156 Simple 1800135 T . Benign/Likely benign 2 4 Cystic fibrosis;not specified 2017-07-18 -19.2 1.5 Benign/Likely benign 0 -93157 Simple 1800136 A . Benign/Likely benign 2 4 Cystic fibrosis;not specified 2016-10-10 -18.6 2.0 Benign/Likely benign 0 -93159 Simple 1800503 T . Benign/Likely benign 2 4 Cystic fibrosis;not specified 2016-10-10 -18.6 2.0 Benign/Likely benign 0 -93160 Simple 61338903 - . Benign 2 1 not specified 2013-01-21 . 5.0 . 0 -93165 Simple 2303269 A . Benign/Likely benign 2 2 Morquio syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -93167 Simple 73251084 A . Benign/Likely benign 2 2 Morquio syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -93168 Simple 2303271 T . Benign 2 2 Morquio syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -93172 Simple 11862754 T . Benign 2 4 Mucopolysaccharidosis, MPS-IV-A;Morquio syndrome;not specified 2017-07-18 -21.6 1.75 Benign/Likely benign 1 -93174 Simple 35137494 A . Benign 2 1 not specified 2014-10-22 . 3.0 . 0 -93180 Simple 3743544 G . Benign/Likely benign 2 2 Morquio syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -93181 Simple 12934499 T . Benign 2 1 not specified 2014-10-22 . 3.0 . 0 -93182 Simple 17603837 A . Benign 2 1 not specified 2012-11-12 . 5.0 . 0 -93183 Simple 34745339 C . Benign/Likely benign 2 3 Morquio syndrome;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -93186 Simple 1064315 A . Benign 2 2 Morquio syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -93187 Simple 35232749 A . Benign/Likely benign 2 2 Morquio syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -93188 Simple 1800430 C . Benign/Likely benign 2 4 Tay-Sachs disease;not specified;not provided 2017-06-09 -19.2 1.5 Benign/Likely benign 0 -93189 Simple 1800431 C . Benign/Likely benign 2 3 Tay-Sachs disease;not specified 2016-08-15 -17.4 1.3333333333333333 Benign/Likely benign 0 -93191 Simple 4777502 C . Benign/Likely benign 2 3 Tay-Sachs disease;not specified 2016-08-15 -17.4 1.3333333333333333 Benign/Likely benign 0 -93193 Simple 1800428 A . Benign/Likely benign 2 5 Tay-Sachs disease;not specified 2017-07-31 -24.0 1.8 Benign 1 -93197 Simple 398123446 G . Pathogenic 2 2 Sandhoff disease;not provided 2015-03-19 9.0 3.5 Pathogenic/Likely pathogenic 1 -93199 Simple 201448394 A . Benign/Likely benign 2 2 not specified 2017-02-17 -6.6 3.0 Likely benign 1 -93202 Simple 10805890 G . Benign/Likely benign 2 2 Sandhoff disease;HEXB POLYMORPHISM;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -93203 Simple 17561000 G . Benign/Likely benign 2 2 Sandhoff disease;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -93207 Simple 1133330 T . Benign/Likely benign 2 3 Deficiency of alpha-mannosidase;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -93210 Simple 34544747 A . Benign/Likely benign 2 3 Deficiency of alpha-mannosidase;not specified 2017-07-18 -12.6 2.0 Benign/Likely benign 0 -93214 Simple 398123457 G . Pathogenic/Likely pathogenic 2 2 Deficiency of alpha-mannosidase;not provided 2016-03-09 6.6 3.0 Likely pathogenic 1 -93217 Simple 1054486 C . Benign/Likely benign 2 3 Deficiency of alpha-mannosidase;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -93218 Simple 1054487 A . Benign/Likely benign 2 3 Deficiency of alpha-mannosidase;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -93220 Simple 73196229 A . Benign 2 3 Ornithine carbamoyltransferase deficiency;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -93223 Simple 55722856 C . Benign 2 2 Ornithine carbamoyltransferase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -93231 Simple 3821445 C . Benign 2 1 not specified 2014-06-11 . 3.0 . 0 -93232 Simple 1126707 C . Benign/Likely benign 2 3 not specified 2017-07-24 -16.2 1.6666666666666667 Benign/Likely benign 0 -93236 Simple 151251082 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-11 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -93239 Simple 2229145 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93240 Simple 41274330 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -42.6 2.125 Benign 0 -93241 Simple 77592501 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -42.6 2.125 Benign 0 -93242 Simple 2960354 T . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -40.5 2.125 Benign 1 -93243 Simple 10406027 C . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -44.4 1.75 Benign 0 -93244 Simple 114351116 G . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-15 -22.2 1.3333333333333333 Benign/Likely benign 0 -93245 Simple 186460831 T . Benign/Likely benign 2 2 not specified 2017-08-15 -7.2 2.0 Likely benign 1 -93246 Simple 138932463 G . Uncertain significance 2 2 not specified;RYR1-Related Disorders 2017-07-17 -0.51 2.0 Uncertain significance 0 -93247 Simple 80039127 T . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-15 -31.8 1.75 Benign 1 -93250 Simple 184450380 T . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2017-01-09 -21.3 1.8571428571428572 Benign/Likely benign 0 -93251 Simple 113579185 T . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -27.6 1.5714285714285714 Benign 1 -93253 Simple 35959206 G . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-14 -43.8 1.75 Benign 0 -93254 Simple 1468571 C . Benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -38.4 1.8571428571428572 Benign 0 -93258 Simple 2288888 A . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93259 Simple 3745847 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93260 Simple 45585535 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-14 -43.8 1.75 Benign 0 -93261 Simple 2228069 A . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93262 Simple 2228070 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93263 Simple 11083462 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93264 Simple 16972636 C . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-17 -43.8 1.75 Benign 0 -93265 Simple 34694816 G . Benign 2 6 Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;not specified;not provided;RYR1-Related Disorders 2017-08-17 -30.0 2.5 Benign 0 -93267 Simple 11882640 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-21 -44.4 1.625 Benign 0 -93268 Simple 55845760 C . Benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -37.8 2.0 Benign 0 -93270 Simple 141317474 T . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-06-28 -28.2 1.2857142857142858 Benign 1 -93271 Simple 35352076 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-21 -44.4 1.625 Benign 0 -93273 Simple 35566549 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-21 -44.4 1.625 Benign 0 -93274 Simple 140004449 T . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-15 -25.2 1.1428571428571428 Benign 1 -93275 Simple 114203198 C . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-11-09 -25.2 1.1428571428571428 Benign 1 -93276 Simple 143418190 T . Uncertain significance 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -1.41 1.6 Uncertain significance 0 -93277 Simple 2229139 G . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -41.1 2.0 Benign 1 -93278 Simple 2228068 G . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -42.6 2.125 Benign 0 -93279 Simple 35364374 T . Benign 2 9 Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -46.8 2.3333333333333335 Benign 0 -93281 Simple 75181912 T . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-11-09 -25.2 1.1428571428571428 Benign 1 -93284 Simple 2228071 T . Benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -37.8 2.0 Benign 0 -93285 Simple 2229147 T . Benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -37.8 2.0 Benign 0 -93286 Simple 2234709 A . Benign 2 2 not specified;not provided 2015-08-19 -9.600000000000001 3.0 Benign/Likely benign 1 -93287 Simple 2228072 A . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -42.6 2.125 Benign 0 -93288 Simple 2071088 A . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -42.6 2.125 Benign 0 -93289 Simple 2960323 G . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -42.6 2.125 Benign 0 -93292 Simple 1469695 G . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93293 Simple 114522234 T . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-04 -31.8 1.75 Benign 1 -93294 Simple 2229142 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -42.6 2.125 Benign 0 -93295 Simple 1469698 T . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93296 Simple 2229144 A . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -44.4 1.75 Benign 0 -93297 Simple 2960340 C . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93298 Simple 2915951 C . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93299 Simple 2915952 A . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93300 Simple 2229146 C . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93301 Simple 200023171 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-07-28 -23.7 1.0 Benign/Likely benign 0 -93302 Simple 2915958 C . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -42.6 2.125 Benign 0 -93303 Simple 2915959 A . Benign 2 2 not specified;not provided 2016-01-25 -10.2 2.5 Benign/Likely benign 1 -93304 Simple 79294840 A . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-15 -22.2 1.3333333333333333 Benign/Likely benign 0 -93305 Simple 116537677 C . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-15 -22.2 1.3333333333333333 Benign/Likely benign 0 -93306 Simple 2071089 G . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -43.2 2.0 Benign 0 -93308 Simple 2304151 A . Benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -37.8 2.0 Benign 0 -93311 Simple 1050228 C . Benign 2 3 Sphingomyelin/cholesterol lipidosis;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -93312 Simple 398123474 C . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease, type B;Niemann-Pick disease, type A 2016-04-21 8.4 1.5 Pathogenic/Likely pathogenic 0 -93315 Simple 182812968 T . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease, type B;Niemann-Pick disease, type A;Sphingomyelin/cholesterol lipidosis 2015-06-18 6.0 4.0 Likely pathogenic 1 -93317 Simple 1050239 A . Benign/Likely benign 2 3 Sphingomyelin/cholesterol lipidosis;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -93319 Simple 7951904 C . Benign/Likely benign 2 2 Sphingomyelin/cholesterol lipidosis;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -93320 Simple 398123479 C . Pathogenic 2 3 Niemann-Pick disease, type B;Niemann-Pick disease, type A;not provided 2016-11-08 15.6 2.3333333333333335 Pathogenic 0 -93321 Simple 281860677 TCCCCGCATCCCCGCA . Pathogenic 2 2 Niemann-Pick disease, type B;Niemann-Pick disease, type A 2016-01-18 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -93323 Simple 201744589 A . Pathogenic 2 3 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-09 15.0 2.3333333333333335 Pathogenic 0 -93325 Simple 1800899 G . Benign/Likely benign 2 6 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -25.2 2.1666666666666665 Benign 1 -93326 Simple 5030804 G . Pathogenic 2 4 Von Hippel-Lindau syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-13 19.8 2.5 Pathogenic 0 -93330 Simple 35460768 T . Benign/Likely benign 2 9 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 -42.300000000000004 1.8888888888888888 Benign 1 -93334 Simple 45500792 G . Benign/Likely benign 2 1 Maple syrup urine disease;not specified 2016-06-14 . 1.0 . 0 -93337 Simple 11549935 G . Benign 2 2 not specified 2016-06-28 -10.2 2.5 Benign/Likely benign 1 -93338 Simple 11549935 T . Benign/Likely benign 2 3 Maple syrup urine disease;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -93341 Simple 11549936 A . Benign/Likely benign 2 2 Maple syrup urine disease;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -93342 Simple 398123489 - . Pathogenic 2 3 Maple syrup urine disease;not provided 2017-06-13 16.2 1.6666666666666667 Pathogenic 0 -93343 Simple 4674 G . Benign/Likely benign 2 2 Maple syrup urine disease;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -93344 Simple 398123490 A . Pathogenic 2 2 Maple syrup urine disease 2013-08-25 7.2 5.5 Likely pathogenic 2 -93345 Simple 34492894 T . Benign/Likely benign 2 4 Maple syrup urine disease;not specified 2017-05-23 -18.6 1.75 Benign/Likely benign 0 -93351 Simple 398123496 A . Pathogenic 2 2 Maple syrup urine disease;not provided 2015-10-23 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -93355 Simple 34541442 A . Benign/Likely benign 2 3 Maple syrup urine disease;not specified 2017-01-26 -15.0 2.6666666666666665 Benign/Likely benign 0 -93357 Simple 3213861 C . Benign 2 2 Maple syrup urine disease;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -93361 Simple 34442879 T . Benign/Likely benign 2 5 Maple syrup urine disease;not specified 2016-06-14 -20.400000000000002 2.2 Benign/Likely benign 0 -93362 Simple 149899007 A . Benign/Likely benign 2 5 Maple syrup urine disease;not specified;not provided 2017-07-10 -25.8 1.0 Benign 1 -93366 Simple 10404506 T . Benign/Likely benign 2 4 Maple syrup urine disease;not specified 2016-06-14 -13.8 3.25 Benign/Likely benign 0 -93375 Simple 398123508 C . Pathogenic 2 2 Maple syrup urine disease;not provided 2015-07-01 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -93379 Simple 398123511 C . Uncertain significance 2 2 not specified 2015-09-02 -0.48 3.0 Uncertain significance 0 -93382 Simple 284652 T . Benign/Likely benign 2 2 Maple syrup urine disease;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -93383 Simple 55940366 T . Benign/Likely benign 2 2 not specified 2017-08-22 -7.2 2.0 Likely benign 1 -93385 Simple 398123515 A . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease 2013-09-05 5.1 5.0 Likely pathogenic 1 -93386 Simple 284653 T . Benign/Likely benign 2 1 not specified 2013-08-23 . 4.0 . 0 -93387 Simple 284654 A . Benign/Likely benign 2 1 not specified 2016-01-12 . 2.0 . 0 -93388 Simple 13343330 T . Benign 2 2 not specified 2016-07-27 -10.2 2.5 Benign/Likely benign 1 -93389 Simple 3217385 CC . Benign/Likely benign 2 1 not specified 2013-08-23 . 4.0 . 0 -93390 Simple 74586298 A . Benign/Likely benign 2 4 Maple syrup urine disease;not specified 2017-05-23 -18.6 1.75 Benign/Likely benign 0 -93391 Simple 34534613 A . Benign/Likely benign 2 5 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;not provided 2017-08-06 -16.5 1.8 Benign/Likely benign 0 -93398 Simple 215976 T . Benign 2 5 Timothy syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2016-06-14 -24.0 3.0 Benign 0 -93404 Simple 216008 T . Benign 2 5 Timothy syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2016-06-14 -25.2 2.6 Benign 0 -93407 Simple 41276710 C . Benign 2 5 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-08 -27.6 1.6 Benign 0 -93409 Simple 113595214 T . Benign/Likely benign 2 6 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-07-31 -24.6 2.3333333333333335 Benign 1 -93410 Simple 115216455 T . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-07-20 -16.2 1.5 Benign/Likely benign 0 -93412 Simple 1544514 A . Benign 2 5 Timothy syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2016-06-14 -24.6 2.8 Benign 0 -93413 Simple 1051375 A . Benign 2 5 Timothy syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2016-06-14 -25.2 2.6 Benign 0 -93414 Simple 113239186 T . Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-07-10 -11.4 1.25 Benign/Likely benign 1 -93415 Simple 11062316 G . Benign/Likely benign 2 5 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-10 -21.6 1.6 Benign/Likely benign 0 -93416 Simple 56270948 A . Benign/Likely benign 2 5 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-08 -22.2 1.4 Benign/Likely benign 0 -93417 Simple 185788586 T . Benign/Likely benign 2 7 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;not provided 2017-07-10 -27.0 2.142857142857143 Benign 1 -93418 Simple 66611965 T . Benign/Likely benign 2 3 Timothy syndrome;Brugada syndrome;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -93420 Simple 1544515 A . Benign 2 2 not specified 2013-07-23 -7.2 5.0 Likely benign 2 -93421 Simple 1544516 C . Benign 2 2 not specified 2013-07-23 -7.2 5.0 Likely benign 2 -93422 Simple 200941579 A . Uncertain significance 2 2 Timothy syndrome;not specified 2017-07-06 -0.51 2.0 Uncertain significance 0 -93423 Simple 112315742 T . Benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-08-04 -16.2 1.6666666666666667 Benign/Likely benign 1 -93424 Simple 2229959 A . Benign/Likely benign 2 2 Epilepsy, nocturnal frontal lobe, type 1;not specified 2017-05-05 -12.0 0.5 Benign/Likely benign 0 -93425 Simple 2229960 G . Benign/Likely benign 2 2 Epilepsy, nocturnal frontal lobe, type 1;not specified 2017-05-05 -12.0 0.5 Benign/Likely benign 0 -93426 Simple 45569837 A . Benign 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-07-08 -13.8 3.0 Benign/Likely benign 1 -93427 Simple 1044396 A . Benign/Likely benign, protective 2 2 Epilepsy, nocturnal frontal lobe, type 1;Nicotine addiction, protection against;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 0 -93428 Simple 1044397 T . Benign/Likely benign, protective 2 2 Epilepsy, nocturnal frontal lobe, type 1;Nicotine addiction, protection against;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 0 -93429 Simple 3827020 C . Benign 2 1 not specified 2016-02-16 . 2.0 . 0 -93430 Simple 79739740 T . Benign/Likely benign 2 2 Epilepsy, nocturnal frontal lobe, type 1;not specified 2017-04-11 -11.4 1.0 Benign/Likely benign 0 -93431 Simple 2279020 A . Benign/Likely benign 2 2 Juvenile myoclonic epilepsy;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -93432 Simple 138259457 A . Benign/Likely benign 2 3 Idiopathic generalized epilepsy;Epilepsy, juvenile myoclonic 5;Epilepsy, childhood absence 4;not specified 2017-07-27 -13.8 3.0 Benign/Likely benign 0 -93434 Simple 211037 T . Benign/Likely benign 2 4 Familial febrile seizures 8;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;not specified 2017-04-28 -22.2 1.5 Benign/Likely benign 0 -93442 Simple 370729174 C . Uncertain significance 2 2 not specified 2015-02-05 -0.44999999999999996 3.5 Uncertain significance 0 -93445 Simple 104886460 T . Pathogenic 2 2 Gaucher's disease, type 1;Acute neuronopathic Gaucher's disease;Gaucher disease 2016-02-09 10.8 2.0 Pathogenic/Likely pathogenic 1 -93451 Simple 1135675 G . Benign/Likely benign 2 2 not specified 2017-07-21 -6.6 2.5 Likely benign 1 -93463 Simple 149667250 A . Benign/Likely benign 2 4 Cranioectodermal dysplasia 2;Short rib polydactyly syndrome 5;Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2017-06-27 -16.2 1.5 Benign/Likely benign 0 -93467 Simple 2905223 G . Benign 2 5 VACTERL association with hydrocephalus;not specified;Fanconi Anemia, X-Linked 2016-09-01 -28.2 1.6 Benign 0 -93468 Simple 202067682 - . Benign 2 5 Fanconi anemia;VACTERL association with hydrocephalus;not specified;Fanconi Anemia, X-Linked 2017-07-13 -28.2 1.2 Benign 0 -93471 Simple 16907852 A . Benign/Likely benign 2 2 Erythrocyte AMP deaminase deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -93476 Simple 2256242 G . Benign 2 1 not specified 2013-10-25 . 4.0 . 0 -93477 Simple 117588730 T . Benign/Likely benign 2 6 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-06-23 -24.6 2.3333333333333335 Benign 1 -93480 Simple 201669522 A . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -93481 Simple 72556351 T . Benign 2 5 Cardiac conduction defect, nonspecific;Generalized epilepsy with febrile seizures plus;Brugada syndrome;not specified 2016-06-14 -29.4 1.2 Benign 0 -93482 Simple 14282 C . Benign 2 2 Doyne honeycomb retinal dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -93484 Simple 201621696 C . Benign/Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -93493 Simple 398123546 A . Pathogenic 2 5 Favism, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency;not specified;not provided 2017-04-15 25.2 2.4 Pathogenic 0 -93494 Simple 2071429 G . Benign/Likely benign 2 4 Glucose 6 phosphate dehydrogenase deficiency;G6pd a-;not specified 2016-10-14 -20.4 1.25 Benign/Likely benign 0 -93510 Simple 17309806 A . Benign/Likely benign 2 5 Fukuyama congenital muscular dystrophy;Limb-girdle muscular dystrophy-dystroglycanopathy, type C4;Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4;not specified;Dilated Cardiomyopathy, Recessive 2017-05-16 -22.2 1.4 Benign/Likely benign 0 -93511 Simple 145883833 A . Benign/Likely benign 2 1 not specified 2012-08-31 . 5.0 . 0 -93513 Simple 148384394 A . Benign/Likely benign 2 3 not specified;Walker-Warburg congenital muscular dystrophy 2017-07-31 -14.4 2.6666666666666665 Benign/Likely benign 0 -93521 Simple 78794935 A . Benign 2 4 not specified;Walker-Warburg congenital muscular dystrophy 2017-07-31 -21.6 1.75 Benign/Likely benign 1 -93522 Simple 34787999 A . Benign/Likely benign 2 5 Fukuyama congenital muscular dystrophy;Limb-girdle muscular dystrophy-dystroglycanopathy, type C4;Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4;not specified;Dilated Cardiomyopathy, Recessive 2017-04-28 -22.2 1.4 Benign/Likely benign 0 -93523 Simple 398123557 TT . Pathogenic/Likely pathogenic 2 5 Fukuyama congenital muscular dystrophy;Limb-girdle muscular dystrophy-dystroglycanopathy, type C4;not provided;Walker-Warburg congenital muscular dystrophy 2016-11-22 22.8 2.6 Pathogenic 1 -93525 Simple 76180538 A . Benign/Likely benign 2 3 not specified 2016-05-19 -10.8 3.3333333333333335 Benign/Likely benign 0 -93527 Simple 648387 T . Benign 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -27.6 1.8 Benign 0 -93528 Simple 79978663 A . Benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -93529 Simple 586592 T . Benign 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -27.6 1.8 Benign 0 -93530 Simple 199568537 A . Likely benign 2 2 not specified 2017-05-09 -6.0 0.5 Likely benign 0 -93531 Simple 1861049 T . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -93532 Simple 17476642 T . Benign/Likely benign 2 1 not specified 2016-01-12 . 2.0 . 0 -93534 Simple 10577377 - . Benign/Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified;not provided 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -93535 Simple 62109744 T . Benign/Likely benign 2 5 not specified;not provided 2017-06-14 -22.2 2.4 Benign/Likely benign 0 -93537 Simple 142313818 T . Uncertain significance 2 2 not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2016-06-14 -0.51 2.5 Uncertain significance 0 -93538 Simple 2074435 T . Benign 2 4 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-05 -19.8 2.5 Benign/Likely benign 1 -93540 Simple 398123560 T . Pathogenic 2 2 Pitt-Hopkins syndrome;not provided 2017-04-27 9.6 2.5 Pathogenic/Likely pathogenic 1 -93541 Simple 143944746 G . Benign/Likely benign 2 6 Pitt-Hopkins syndrome;not specified 2017-08-01 -30.0 1.6666666666666667 Benign 1 -93542 Simple 121909123 T . Pathogenic 2 3 Pitt-Hopkins syndrome;not provided 2017-04-28 16.2 1.6666666666666667 Pathogenic 0 -93543 Simple 76956936 T . Benign/Likely benign 2 5 Pitt-Hopkins syndrome;not specified 2016-09-13 -18.3 2.0 Benign/Likely benign 0 -93544 Simple 8766 C . Benign 2 4 Pitt-Hopkins syndrome;not specified 2016-06-20 -19.2 3.0 Benign/Likely benign 1 -93545 Simple 398123561 - . Pathogenic 2 3 Pitt-Hopkins syndrome;not provided;Intellectual disability 2016-06-28 16.8 1.6666666666666667 Pathogenic 0 -93546 Simple 41271481 G . Benign/Likely benign 2 5 Nemaline myopathy;Familial restrictive cardiomyopathy;not specified;Congenital fiber-type disproportion 2016-06-14 -18.0 2.0 Benign/Likely benign 0 -93547 Simple 11803533 G . Benign/Likely benign 2 6 Nemaline myopathy;Familial restrictive cardiomyopathy;not specified;Congenital fiber-type disproportion 2016-06-14 -22.2 2.3333333333333335 Benign/Likely benign 0 -93549 Simple 398123563 T . Likely pathogenic 2 2 Nemaline myopathy 3;not provided 2017-09-08 4.8 2.5 Likely pathogenic 0 -93551 Simple 201427429 GG . Benign/Likely benign 2 3 Nemaline myopathy;Familial restrictive cardiomyopathy;not specified;Congenital fiber-type disproportion 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -93552 Simple 6673359 G . Benign/Likely benign 2 5 Nemaline myopathy;Familial restrictive cardiomyopathy;not specified;Congenital fiber-type disproportion 2016-06-14 -18.0 2.0 Benign/Likely benign 0 -93554 Simple 59228224 - . Benign 2 1 not specified 2013-09-13 . 4.0 . 0 -93555 Simple 74897770 T . Benign/Likely benign 2 2 Nemaline myopathy 3;not specified 2017-06-27 -10.2 2.0 Benign/Likely benign 0 -93557 Simple 184087864 T . Benign 2 3 not specified 2016-03-31 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -93558 Simple 185512321 T . Benign 2 3 Mental retardation, X-linked 1;not specified 2017-08-03 -16.2 1.6666666666666667 Benign/Likely benign 1 -93559 Simple 2248069 T . Benign/Likely benign 2 2 not specified 2016-01-07 -9.600000000000001 3.0 Benign/Likely benign 0 -93561 Simple 16029 A . Benign/Likely benign 2 4 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-26 -21.6 1.5 Benign/Likely benign 0 -93562 Simple 16051 G . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-04-22 -12.0 0.5 Benign/Likely benign 0 -93565 Simple 77523018 C . Benign/Likely benign 2 4 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -18.0 2.0 Benign/Likely benign 0 -93566 Simple 28444388 T . Benign 2 5 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -25.8 2.2 Benign 0 -93567 Simple 11762213 A . Benign/Likely benign 2 6 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -26.4 1.8333333333333333 Benign 1 -93569 Simple 13223756 G . Benign 2 4 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -93571 Simple 199736573 G . Uncertain significance 2 3 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.78 2.0 Uncertain significance 0 -93573 Simple 150588908 T . Benign/Likely benign 2 4 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -18.0 2.0 Benign/Likely benign 0 -93574 Simple 41736 T . Benign 2 5 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -27.0 1.8 Benign 0 -93575 Simple 2023748 A . Benign 2 5 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -27.0 1.8 Benign 0 -93576 Simple 41737 A . Benign 2 5 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -27.0 1.8 Benign 0 -93577 Simple 398123570 C . Uncertain significance 2 3 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-07 -0.87 1.3333333333333333 Uncertain significance 0 -93578 Simple 35775721 T . Benign 2 4 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -93579 Simple 35284565 A . Benign/Likely benign 2 3 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-19 -12.3 2.6666666666666665 Benign/Likely benign 0 -93585 Simple 78540316 A . Benign/Likely benign 2 5 Pitt-Hopkins-like syndrome 2;not specified 2017-03-13 -22.5 1.4 Benign/Likely benign 0 -93589 Simple 56086732 T . Benign/Likely benign 2 5 Pitt-Hopkins-like syndrome 2;not specified;not provided 2017-09-29 -20.4 1.8 Benign/Likely benign 0 -93592 Simple 201818223 T . Uncertain significance 2 6 Pitt-Hopkins-like syndrome 2;Schizophrenia 17;not specified;Pitt-Hopkins-like syndrome 2017-05-23 -1.68 1.5 Uncertain significance 0 -93595 Simple 201118246 T . Uncertain significance 2 2 not specified;Pitt-Hopkins-like syndrome 2016-06-14 -0.48 3.0 Uncertain significance 0 -93601 Simple 3213756 G . Benign 2 1 not specified 2016-03-02 . 2.0 . 0 -93602 Simple 79970751 C . Benign/Likely benign 2 5 Pitt-Hopkins-like syndrome 2;not specified 2017-07-06 -21.6 1.4 Benign/Likely benign 0 -93603 Simple 1045874 A . Benign/Likely benign 2 2 not specified;Pitt-Hopkins-like syndrome 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -93605 Simple 9294631 G . Benign 2 3 not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -13.2 3.6666666666666665 Benign/Likely benign 1 -93606 Simple 12663916 A . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93607 Simple 12662610 C . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93608 Simple 12663622 C . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93609 Simple 12663619 A . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93610 Simple 17403955 C . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93611 Simple 624851 G . Benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -13.2 3.6666666666666665 Benign/Likely benign 1 -93612 Simple 62415828 G . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93613 Simple 62415827 A . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93614 Simple 62415826 C . Benign/Likely benign 2 3 not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93615 Simple 62415825 T . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93616 Simple 57312007 G . Benign/Likely benign 2 3 not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93618 Simple 16895517 C . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93619 Simple 115066356 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -93620 Simple 4710457 T . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -93628 Simple 372840031 - . Benign/Likely benign 2 5 Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy 2017-08-14 -21.0 1.8 Benign/Likely benign 0 -93633 Simple 7559148 T . Benign/Likely benign 2 6 Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy 2017-08-14 -25.2 2.1666666666666665 Benign 1 -93635 Simple 398123585 A . Pathogenic 2 7 Familial hemiplegic migraine type 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided;Early infantile epileptic encephalopathy 2017-06-29 36.0 2.142857142857143 Pathogenic 0 -93636 Simple 398123586 T . Uncertain significance 2 2 not specified 2017-08-23 -0.51 2.0 Uncertain significance 0 -93637 Simple 59251406 C . Benign 2 2 not specified 2015-04-30 -9.0 3.5 Benign/Likely benign 1 -93639 Simple 398123588 T . Pathogenic 2 4 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided;Early infantile epileptic encephalopathy 2017-04-06 20.4 2.25 Pathogenic 0 -93642 Simple 144679294 G . Benign/Likely benign 2 5 Familial hemiplegic migraine;Seizure Disorders;not specified;not provided;Early infantile epileptic encephalopathy 2017-07-24 -18.0 2.0 Benign/Likely benign 0 -93643 Simple 61741123 G . Benign/Likely benign 2 5 Familial hemiplegic migraine type 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy 2017-08-01 -23.4 0.8 Benign/Likely benign 0 -93646 Simple 143980709 G . Benign 2 4 not specified;Early infantile epileptic encephalopathy 2017-07-28 -21.6 1.75 Benign/Likely benign 1 -93648 Simple 192956852 G . Benign 2 2 not specified 2013-05-13 -7.800000000000001 4.5 Likely benign 2 -93653 Simple 398123597 T . Uncertain significance 2 2 not specified 2016-01-04 -0.48 3.0 Uncertain significance 0 -93657 Simple 140237315 T . Benign/Likely benign 2 6 Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy 2017-08-04 -26.4 1.8333333333333333 Benign 1 -93660 Simple 35735053 G . Benign/Likely benign 2 7 Familial hemiplegic migraine;Seizure Disorders;not specified;not provided;Early infantile epileptic encephalopathy 2017-07-20 -27.3 2.2857142857142856 Benign 1 -93661 Simple 146733308 T . Uncertain significance 2 2 not specified 2017-07-21 -0.51 2.0 Uncertain significance 0 -93668 Simple 2227928 G . Benign/Likely benign 2 4 Seckel syndrome;not specified 2016-06-14 -18.3 2.5 Benign/Likely benign 0 -93669 Simple 1802904 T . Benign/Likely benign 2 4 Seckel syndrome;not specified 2016-06-14 -18.3 2.5 Benign/Likely benign 0 -93670 Simple 56277715 A . Benign 2 4 Early infantile epileptic encephalopathy 9;not specified 2017-08-11 -17.4 3.5 Benign/Likely benign 1 -93671 Simple 1953337 A . Benign 2 3 not specified 2017-02-05 -13.8 3.3333333333333335 Benign/Likely benign 1 -93673 Simple 61744561 T . Benign 2 4 Early infantile epileptic encephalopathy 9;not specified 2017-07-11 -16.8 3.75 Benign/Likely benign 1 -93674 Simple 200854927 C . Likely benign 2 2 not specified 2016-09-12 -5.7 1.5 Likely benign 0 -93677 Simple 41300169 T . Benign 2 3 not specified 2014-01-10 -11.4 4.666666666666667 Benign/Likely benign 1 -93678 Simple 377627937 A . Benign/Likely benign 2 3 Early infantile epileptic encephalopathy 9;not specified 2017-06-27 -9.9 2.0 Benign/Likely benign 0 -93679 Simple 184883626 T . Benign/Likely benign 2 4 Early infantile epileptic encephalopathy 9;not specified 2017-08-16 -16.2 3.25 Benign/Likely benign 0 -93680 Simple 56307810 A . Benign/Likely benign 2 3 Early infantile epileptic encephalopathy 9;not specified 2017-07-27 -12.9 2.0 Benign/Likely benign 0 -93681 Simple 2285943 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -93682 Simple 398123604 TT . Benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-16 -14.4 2.6666666666666665 Benign/Likely benign 1 -93683 Simple 2285944 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -93684 Simple 4615458 G . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -93685 Simple 17144747 G . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -93687 Simple 57208694 G . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -93688 Simple 57952953 ATTTA . Benign 2 1 not specified 2013-05-09 . 4.0 . 0 -93689 Simple 72657320 C . Benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-21 -17.4 1.0 Benign/Likely benign 1 -93690 Simple 56029521 C . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -93691 Simple 55666134 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -93692 Simple 59447021 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -93693 Simple 10950854 T . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -93694 Simple 12536928 T . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -93697 Simple 483053 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -93698 Simple 10459809 T . Benign/Likely benign 2 3 not specified;not provided;Retinitis Pigmentosa, Recessive 2017-06-07 -13.2 1.6666666666666667 Benign/Likely benign 0 -93700 Simple 413562 T . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -93707 Simple 760241 G . Benign 2 4 Smith-Lemli-Opitz syndrome;not specified 2017-04-11 -23.4 1.0 Benign/Likely benign 1 -93708 Simple 909217 A . Benign/Likely benign 2 4 Smith-Lemli-Opitz syndrome;not specified 2017-04-11 -20.4 1.0 Benign/Likely benign 0 -93712 Simple 104886035 A . Pathogenic 2 2 Smith-Lemli-Opitz syndrome;not provided 2016-10-18 10.2 2.5 Pathogenic/Likely pathogenic 1 -93713 Simple 1044482 T . Benign/Likely benign 2 4 Smith-Lemli-Opitz syndrome;not specified 2017-05-08 -21.0 0.75 Benign/Likely benign 0 -93715 Simple 1790334 G . Benign 2 5 Smith-Lemli-Opitz syndrome;not specified 2017-05-08 -28.8 1.2 Benign 0 -93716 Simple 4316537 A . Benign/Likely benign 2 4 Smith-Lemli-Opitz syndrome;not specified 2017-05-15 -19.2 1.5 Benign/Likely benign 0 -93717 Simple 377108406 A . Benign/Likely benign 2 5 Smith-Lemli-Opitz syndrome;not specified 2017-09-21 -21.9 1.4 Benign/Likely benign 0 -93719 Simple 949177 G . Benign 2 4 Smith-Lemli-Opitz syndrome;not specified 2017-05-08 -23.4 1.0 Benign/Likely benign 1 -93721 Simple 736894 T . Benign/Likely benign 2 3 Smith-Lemli-Opitz syndrome;not specified 2016-10-12 -14.4 1.3333333333333333 Benign/Likely benign 0 -93724 Simple 398123607 T . Pathogenic/Likely pathogenic 2 3 Smith-Lemli-Opitz syndrome;not provided 2017-06-02 12.6 2.0 Pathogenic/Likely pathogenic 0 -93725 Simple 138659167 G . Pathogenic/Likely pathogenic 2 10 Smith-Lemli-Opitz syndrome;not provided 2017-11-01 54.3 1.2 Pathogenic 1 -93726 Simple 140748737 T . Benign/Likely benign 2 3 Smith-Lemli-Opitz syndrome;not specified;not provided 2017-06-02 -13.2 1.6666666666666667 Benign/Likely benign 0 -93728 Simple 643788 C . Benign 2 5 Acute intermittent porphyria;Congenital disorder of glycosylation;not specified 2016-06-14 -25.2 2.6 Benign 0 -93731 Simple 7298287 C . Benign 2 1 not specified 2012-08-09 . 5.0 . 0 -93732 Simple 6002267 T . Benign 2 3 Rubinstein-Taybi syndrome;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -93733 Simple 9611506 A . Benign 2 1 not specified 2014-04-09 . 3.0 . 0 -93735 Simple 35560602 A . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2;not specified 2017-06-23 -13.2 1.6666666666666667 Benign/Likely benign 0 -93736 Simple 20551 G . Benign 2 3 Rubinstein-Taybi syndrome;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -93738 Simple 20552 A . Benign 2 3 Rubinstein-Taybi syndrome;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -93739 Simple 11704815 T . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2;not specified 2017-06-07 -13.2 1.6666666666666667 Benign/Likely benign 0 -93740 Simple 2294976 A . Benign 2 1 not specified 2013-04-03 . 4.0 . 0 -93741 Simple 6002271 T . Benign 2 1 not specified 2014-06-10 . 3.0 . 0 -93742 Simple 2076578 T . Benign 2 1 not specified 2014-06-11 . 3.0 . 0 -93744 Simple 1046088 C . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2;not specified 2017-07-24 -13.2 1.6666666666666667 Benign/Likely benign 0 -93745 Simple 61120041 - . Benign 2 3 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2;not specified 2017-05-16 -16.2 1.6666666666666667 Benign/Likely benign 1 -93747 Simple 398123612 CGGCGG . Benign 2 1 not specified 2014-05-09 . 3.0 . 0 -93748 Simple 36051194 A . Benign/Likely benign 2 6 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-08-16 -28.8 2.8333333333333335 Benign 1 -93753 Simple 17091204 A . Benign/Likely benign 2 6 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided 2017-08-03 -29.1 2.1666666666666665 Benign 1 -93758 Simple 2070817 T . Benign 2 2 not specified 2014-02-20 -8.4 4.0 Benign/Likely benign 1 -93761 Simple 398123620 AT . Pathogenic 2 3 Periventricular nodular heterotopia 1;Oto-palato-digital syndrome, type I 2013-08-20 11.4 5.0 Pathogenic/Likely pathogenic 1 -93763 Simple 61741041 T . Benign/Likely benign 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-31 -18.0 3.25 Benign/Likely benign 0 -93765 Simple 57108893 T . Benign/Likely benign 2 6 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided 2017-08-03 -31.2 2.1666666666666665 Benign 1 -93766 Simple 2070825 G . Benign/Likely benign 2 4 not specified 2016-02-21 -18.0 3.5 Benign/Likely benign 0 -93767 Simple 187029309 A . Benign/Likely benign 2 8 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided;Cardiovascular phenotype 2017-07-28 -40.8 1.625 Benign 1 -93770 Simple 1064822 G . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-27 -15.600000000000001 2.0 Benign/Likely benign 0 -93771 Simple 2073470 A . Benign/Likely benign 2 5 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-08-02 -25.8 2.2 Benign 1 -93772 Simple 113510895 A . Benign/Likely benign 2 6 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-08-08 -27.3 2.6666666666666665 Benign 1 -93775 Simple 7063300 A . Benign 2 2 not specified 2015-05-20 -9.0 3.5 Benign/Likely benign 1 -93776 Simple 143311779 A . Benign 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-12 -19.2 2.75 Benign/Likely benign 1 -93777 Simple 184864998 C . Benign 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-08-02 -22.2 1.5 Benign/Likely benign 1 -93779 Simple 1065765 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -93783 Simple 17715450 A . Benign 2 2 EEM syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -93787 Simple 1635553 G . Benign/Likely benign 2 4 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -93788 Simple 3803183 A . Benign/Likely benign 2 4 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2017-06-27 -16.2 1.5 Benign/Likely benign 0 -93789 Simple 41272029 C . Benign/Likely benign 2 4 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-10-06 -16.2 1.75 Benign/Likely benign 0 -93790 Simple 201646745 T . Uncertain significance 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -93791 Simple 3803184 C . Benign 2 1 not specified 2013-07-25 . 4.0 . 0 -93792 Simple 7671 G . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -93803 Simple 116343553 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-07 -15.6 1.75 Benign/Likely benign 0 -93804 Simple 145579577 G . Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-23 -11.7 1.0 Benign/Likely benign 1 -93805 Simple 1980982 C . Benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-05-31 -26.4 2.0 Benign 0 -93806 Simple 74982956 T . Benign/Likely benign 2 1 not specified 2012-09-05 . 5.0 . 0 -93807 Simple 115107397 A . Benign/Likely benign 2 3 Collagen VI-related myopathy;not specified 2016-10-14 -15.6 2.3333333333333335 Benign/Likely benign 0 -93808 Simple 7280215 T . Benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -25.8 2.2 Benign 0 -93809 Simple 7279254 A . Benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-07 -25.8 2.2 Benign 0 -93810 Simple 35059000 A . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-31 -12.6 2.0 Benign/Likely benign 0 -93811 Simple 2850173 C . Benign 2 1 not specified 2012-08-27 . 5.0 . 0 -93813 Simple 2839077 C . Benign 2 1 not specified 2012-08-24 . 5.0 . 0 -93814 Simple 80244281 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-07 -18.6 1.75 Benign/Likely benign 0 -93815 Simple 2276254 A . Benign 2 2 not specified 2016-01-05 -10.2 2.5 Benign/Likely benign 1 -93816 Simple 3216137 GG . Benign 2 1 not specified 2012-08-24 . 5.0 . 0 -93817 Simple 2276255 G . Benign 2 1 not specified 2012-08-24 . 5.0 . 0 -93819 Simple 35134265 C . Benign 2 2 Bethlem myopathy 1;not specified 2016-05-23 -9.6 3.0 Benign/Likely benign 1 -93820 Simple 116000285 A . Benign/Likely benign 2 3 Collagen VI-related myopathy;not specified 2016-08-02 -12.6 2.3333333333333335 Benign/Likely benign 0 -93821 Simple 2276256 C . Benign 2 2 not specified 2016-01-25 -9.0 3.5 Benign/Likely benign 1 -93823 Simple 141892165 A . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified 2017-07-24 -15.6 2.0 Benign/Likely benign 0 -93824 Simple 143812383 T . Benign/Likely benign 2 4 Bethlem myopathy 1;not specified 2017-06-20 -17.4 2.0 Benign/Likely benign 0 -93827 Simple 148205490 T . Benign/Likely benign 2 1 not specified 2012-09-07 . 5.0 . 0 -93828 Simple 74852641 A . Benign 2 7 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-08-01 -37.2 1.8571428571428572 Benign 0 -93830 Simple 182804464 G . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-14 -18.0 2.0 Benign/Likely benign 0 -93831 Simple 13053065 C . Benign 2 1 not specified 2012-08-24 . 5.0 . 0 -93832 Simple 7276098 G . Benign 2 1 not specified 2012-08-24 . 5.0 . 0 -93836 Simple 117330552 T . Benign 2 1 not specified 2012-09-05 . 5.0 . 0 -93837 Simple 184666690 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-31 -25.8 1.2 Benign 1 -93839 Simple 142554239 T . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2016-05-23 -9.6 3.0 Benign/Likely benign 0 -93841 Simple 11701124 T . Benign 2 3 Collagen VI-related myopathy;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -93842 Simple 8132521 T . Benign 2 3 Collagen VI-related myopathy;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -93843 Simple 78224483 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-08-08 -25.2 1.2 Benign 1 -93844 Simple 138884734 C . Benign/Likely benign 2 7 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified;not provided 2017-07-19 -35.4 1.5714285714285714 Benign 1 -93845 Simple 8132678 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-07 -18.6 1.75 Benign/Likely benign 0 -93846 Simple 200727020 C . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-10-13 -15.6 1.5 Benign/Likely benign 0 -93848 Simple 147219060 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-24 -18.6 1.75 Benign/Likely benign 0 -93849 Simple 398123635 T . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.48 3.0 Uncertain significance 0 -93850 Simple 35796750 T . Benign 2 1 not specified 2012-08-23 . 5.0 . 0 -93852 Simple 200261890 A . Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-05-31 -12.0 0.75 Benign/Likely benign 1 -93853 Simple 140547835 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided 2017-08-07 -24.3 1.8 Benign 1 -93854 Simple 2236485 G . Benign 2 3 Collagen VI-related myopathy;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -93855 Simple 2236486 A . Benign 2 2 not specified 2016-01-05 -10.8 2.0 Benign/Likely benign 1 -93857 Simple 115181427 T . Benign 2 2 not specified 2016-03-28 -9.6 3.0 Benign/Likely benign 1 -93859 Simple 11553518 G . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-31 -21.6 1.75 Benign/Likely benign 0 -93860 Simple 141463437 T . Benign 2 3 Bethlem myopathy 1;not specified 2017-06-06 -14.4 2.6666666666666665 Benign/Likely benign 1 -93861 Simple 1053312 A . Benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-05-31 -25.2 2.4 Benign 0 -93862 Simple 368561027 T . Uncertain significance 2 2 not specified 2017-11-02 -0.48 2.5 Uncertain significance 0 -93864 Simple 1053315 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-05-31 -21.0 2.0 Benign/Likely benign 0 -93865 Simple 13051496 T . Benign 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-05-31 -21.0 2.0 Benign/Likely benign 1 -93866 Simple 13879 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-07-26 -24.6 1.4 Benign 1 -93867 Simple 115163637 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-04-18 -16.8 1.0 Benign/Likely benign 0 -93868 Simple 61735853 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-02 -21.6 1.75 Benign/Likely benign 0 -93869 Simple 144671871 A . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified 2017-07-24 -15.6 2.0 Benign/Likely benign 0 -93870 Simple 1053320 T . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -93872 Simple 11553519 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-11 -24.0 1.8 Benign 1 -93873 Simple 3746993 G . Benign 2 3 Collagen VI-related myopathy;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -93874 Simple 148766287 G . Benign/Likely benign 2 1 not specified 2012-09-05 . 5.0 . 0 -93875 Simple 71324475 A . Benign 2 1 not specified 2012-08-28 . 5.0 . 0 -93876 Simple 741956 A . Benign 2 2 not specified 2016-01-05 -9.0 3.5 Benign/Likely benign 1 -93879 Simple 754507 A . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -93880 Simple 111710378 CC . Benign 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -93881 Simple 117470181 G . Benign/Likely benign 2 1 not specified 2012-09-05 . 5.0 . 0 -93883 Simple 115292913 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-07 -18.6 1.75 Benign/Likely benign 0 -93886 Simple 144843800 T . Benign/Likely benign 2 2 not specified 2016-04-28 -10.2 2.5 Benign/Likely benign 0 -93891 Simple 2277814 G . Benign 2 2 not specified 2016-01-22 -10.2 2.5 Benign/Likely benign 1 -93892 Simple 78884675 T . Benign/Likely benign 2 2 not specified 2016-08-02 -9.6 3.0 Benign/Likely benign 0 -93894 Simple 121912939 A . Pathogenic 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2017-06-16 24.0 0.75 Pathogenic 0 -93895 Simple 398123643 A . Pathogenic/Likely pathogenic 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 2017-03-02 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -93897 Simple 34495634 A . Benign 2 3 Collagen VI-related myopathy;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -93898 Simple 79364611 A . Benign/Likely benign 2 2 not specified 2016-08-02 -9.6 3.0 Benign/Likely benign 0 -93899 Simple 111592472 T . Benign/Likely benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93900 Simple 7279347 A . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93901 Simple 117154313 A . Benign/Likely benign 2 1 not specified 2012-10-16 . 5.0 . 0 -93902 Simple 140027285 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-08-02 -17.7 1.0 Benign/Likely benign 0 -93903 Simple 2839110 A . Benign 2 5 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -25.2 2.6 Benign 0 -93905 Simple 3737362 G . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93906 Simple 73159701 C . Benign 2 6 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -32.4 2.0 Benign 0 -93908 Simple 1077182 G . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93910 Simple 9976026 C . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93911 Simple 141166141 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-08-04 -15.6 1.75 Benign/Likely benign 0 -93912 Simple 17272651 T . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93913 Simple 17357592 T . Benign/Likely benign 2 4 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -21.0 2.25 Benign/Likely benign 0 -93914 Simple 915786 G . Benign/Likely benign 2 4 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -21.0 2.25 Benign/Likely benign 0 -93916 Simple 3746995 G . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93917 Simple 79205686 T . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93918 Simple 55933135 G . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93919 Simple 73382466 G . Benign/Likely benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93921 Simple 9981981 A . Benign 2 5 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -26.4 2.2 Benign 0 -93922 Simple 2839113 G . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93923 Simple 150275851 - . Benign/Likely benign 2 1 not specified 2012-11-02 . 5.0 . 0 -93924 Simple 2276101 T . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93925 Simple 774487338 CC . Benign 2 4 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -93926 Simple 78764604 C . Benign/Likely benign 2 1 not specified 2012-10-16 . 5.0 . 0 -93929 Simple 1042917 A . Benign 2 4 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -93930 Simple 13052956 A . Benign 2 4 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -93931 Simple 13046639 T . Benign 2 4 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -93933 Simple 114554195 T . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified 2017-03-13 -12.6 1.6666666666666667 Benign/Likely benign 0 -93934 Simple 61735829 G . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-07-25 -21.6 1.6 Benign/Likely benign 0 -93935 Simple 16978875 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-08-08 -27.6 1.6 Benign 1 -93936 Simple 2839114 A . Benign 2 5 Collagen VI-related myopathy;not specified;Myosclerosis 2017-01-16 -25.8 2.4 Benign 0 -93938 Simple 75120695 A . Benign/Likely benign 2 6 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided 2017-08-02 -21.6 1.6666666666666667 Benign/Likely benign 0 -93939 Simple 16978878 A . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93940 Simple 7279622 T . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93943 Simple 116817879 T . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified 2017-05-02 -14.4 1.0 Benign/Likely benign 0 -93944 Simple 11554669 T . Benign/Likely benign 2 5 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -16.8 2.4 Benign/Likely benign 0 -93945 Simple 9977394 G . Benign 2 5 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -27.6 1.8 Benign 0 -93947 Simple 140419176 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-10-16 -18.6 1.4 Benign/Likely benign 0 -93948 Simple 35548026 A . Benign/Likely benign 2 6 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Collagen VI-related myopathy;not specified;Myosclerosis 2016-07-06 -30.6 1.6666666666666667 Benign 1 -93949 Simple 115970356 T . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified 2017-03-07 -12.6 2.0 Benign/Likely benign 0 -93950 Simple 6652 T . Benign/Likely benign 2 6 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -28.2 2.3333333333333335 Benign 1 -93951 Simple 35139588 A . Benign/Likely benign 2 6 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided;Myosclerosis 2017-06-15 -24.6 1.3333333333333333 Benign 1 -93952 Simple 11910483 C . Benign/Likely benign 2 7 Bethlem myopathy 1;GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Collagen VI-related myopathy;not specified;not provided;Myosclerosis 2017-08-02 -36.0 1.5714285714285714 Benign 1 -93953 Simple 141703710 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided 2017-07-20 -21.0 2.0 Benign/Likely benign 0 -93954 Simple 115957676 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-01-26 -17.4 1.25 Benign/Likely benign 0 -93955 Simple 59531343 T . Benign 2 6 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -30.6 2.5 Benign 0 -93956 Simple 35881321 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-08-09 -21.0 1.8 Benign/Likely benign 0 -93957 Simple 11089047 A . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93958 Simple 2070957 T . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -93959 Simple 78822624 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-08-07 -21.0 1.8 Benign/Likely benign 0 -93961 Simple 61735835 A . Benign/Likely benign 2 6 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided;Myosclerosis 2017-06-15 -24.6 1.3333333333333333 Benign 1 -93963 Simple 762438 T . Benign 2 2 not specified 2016-01-05 -9.600000000000001 3.0 Benign/Likely benign 1 -93965 Simple 34587338 C . Benign 2 2 not specified 2016-10-04 -10.2 2.5 Benign/Likely benign 1 -93966 Simple 71752747 - . Benign/Likely benign 2 2 not specified 2016-03-29 -10.8 2.0 Benign/Likely benign 0 -93967 Simple 111841420 C . Benign/Likely benign 2 5 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-10-03 -19.2 1.6 Benign/Likely benign 0 -93969 Simple 71664966 G . Benign 2 5 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-10-04 -28.2 1.6 Benign 0 -93971 Simple 398123653 G . Uncertain significance 2 2 not specified 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -93974 Simple 113037606 - . Benign 2 2 not specified 2016-03-16 -10.8 2.0 Benign/Likely benign 1 -93975 Simple 3019603 A . Benign 2 2 not specified 2016-02-01 -9.600000000000001 3.0 Benign/Likely benign 1 -93976 Simple 117610994 C . Benign 2 2 not specified 2014-07-17 -9.6 3.0 Benign/Likely benign 1 -93977 Simple 2229737 T . Benign 2 2 not specified 2016-03-16 -10.2 2.5 Benign/Likely benign 1 -93978 Simple 75677837 T . Benign 2 3 Carnitine palmitoyl transferase 1 deficiency;not specified 2017-08-04 -16.2 1.6666666666666667 Benign/Likely benign 1 -93982 Simple 150934375 T . Uncertain significance 2 2 Maple syrup urine disease;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -93985 Simple 183058253 T . Benign/Likely benign 2 3 Maple syrup urine disease;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -93987 Simple 34229137 A . Benign 2 2 Maple syrup urine disease;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -93989 Simple 115696850 C . Benign/Likely benign 2 1 not specified 2013-08-23 . 4.0 . 0 -93990 Simple 140115881 C . Benign/Likely benign 2 4 Maple syrup urine disease;not specified;not provided 2017-08-04 -13.8 1.75 Benign/Likely benign 0 -93993 Simple 75525811 C . Uncertain significance 2 2 Maple syrup urine disease;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -93998 Simple 201469612 TT . Benign/Likely benign 2 1 not specified 2016-05-12 . 1.0 . 0 -94006 Simple 398123671 T . Uncertain significance 2 2 Maple syrup urine disease;not specified 2017-05-12 -0.51 2.0 Uncertain significance 0 -94009 Simple 74103423 A . Pathogenic/Likely pathogenic 2 3 Maple syrup urine disease;not provided 2017-10-13 13.2 1.6666666666666667 Pathogenic/Likely pathogenic 0 -94010 Simple 72973763 C . Benign/Likely benign 2 4 Maple syrup urine disease;not specified 2017-03-16 -18.6 1.75 Benign/Likely benign 0 -94011 Simple 146249007 G . Benign/Likely benign 2 4 Maple syrup urine disease;not specified;not provided 2016-08-22 -21.0 2.25 Benign/Likely benign 0 -94012 Simple 79292123 A . Benign/Likely benign 2 2 not specified 2017-08-01 -7.2 2.0 Likely benign 1 -94013 Simple 145674833 G . Benign/Likely benign 2 2 not specified 2017-08-14 -7.2 2.0 Likely benign 1 -94016 Simple 185492864 A . Pathogenic/Likely pathogenic 2 3 Maple syrup urine disease;not provided 2017-05-25 12.6 2.0 Pathogenic/Likely pathogenic 0 -94017 Simple 398123676 G . Pathogenic 2 2 Maple syrup urine disease 2013-09-04 7.800000000000001 4.5 Likely pathogenic 2 -94020 Simple 62390671 A . Benign/Likely benign 2 7 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-04 -31.2 2.7142857142857144 Benign 1 -94027 Simple 149653283 C . Uncertain significance 2 2 not specified;not provided 2013-10-16 -0.42 4.0 Uncertain significance 0 -94029 Simple 1147096 T . Benign 2 2 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -94030 Simple 2230291 T . Benign/Likely benign 2 2 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 -7.8 2.0 Likely benign 1 -94031 Simple 2293412 G . Benign 2 3 not specified;Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -94035 Simple 1800974 T . Benign 2 4 not specified;Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -94037 Simple 2293410 T . Benign 2 1 not specified 2012-07-18 . 5.0 . 0 -94038 Simple 76938320 A . Uncertain significance 2 2 not specified;Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 -0.51 2.5 Uncertain significance 0 -94042 Simple 200149396 A . Benign/Likely benign 2 2 not specified 2017-07-19 -7.2 2.0 Likely benign 1 -94043 Simple 3852533 G . Benign 2 3 not specified;Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -94044 Simple 2293413 C . Benign 2 2 not specified 2016-01-05 -9.0 3.5 Benign/Likely benign 1 -94045 Simple 11171661 A . Benign/Likely benign 2 3 not specified;Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -94046 Simple 3847675 T . Benign/Likely benign 2 3 not specified;Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -94049 Simple 139908696 A . Uncertain significance 2 2 Isovaleryl-CoA dehydrogenase deficiency;not specified 2017-05-24 -0.51 2.0 Uncertain significance 0 -94053 Simple 2289331 C . Benign 2 2 Isovaleryl-CoA dehydrogenase deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -94054 Simple 398123682 - . Pathogenic/Likely pathogenic 2 2 Isovaleryl-CoA dehydrogenase deficiency 2016-06-27 6.6 3.0 Likely pathogenic 1 -94055 Simple 398123683 C . Pathogenic 2 2 Isovaleryl-CoA dehydrogenase deficiency 2017-06-22 9.6 2.5 Pathogenic/Likely pathogenic 1 -94056 Simple 398123684 - . Pathogenic 2 2 Isovaleryl-CoA dehydrogenase deficiency 2017-06-29 10.2 2.0 Pathogenic/Likely pathogenic 1 -94057 Simple 2229312 T . Benign/Likely benign 2 2 Isovaleryl-CoA dehydrogenase deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -94061 Simple 398123686 A . Uncertain significance 2 2 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;not specified 2014-04-03 -0.42 4.0 Uncertain significance 0 -94062 Simple 117536357 C . Uncertain significance 2 2 not specified;not provided 2015-10-09 -0.48 3.0 Uncertain significance 0 -94063 Simple 138886378 A . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -94066 Simple 1130741 G . Benign 2 4 Congenital disorder of glycosylation;not specified 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -94067 Simple 11638130 A . Benign 2 4 Congenital disorder of glycosylation;not specified 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -94068 Simple 143242949 T . Benign 2 2 not specified 2016-04-25 -9.6 3.0 Benign/Likely benign 1 -94069 Simple 7495739 G . Benign 2 4 Congenital disorder of glycosylation;not specified 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -94070 Simple 199972529 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-09-22 -0.6 1.0 Uncertain significance 0 -94071 Simple 12440159 T . Benign/Likely benign 2 4 Congenital disorder of glycosylation type 1B;Congenital disorder of glycosylation;not specified 2017-08-04 -18.6 1.75 Benign/Likely benign 0 -94073 Simple 148262378 T . Benign/Likely benign 2 3 not specified;not provided 2015-06-05 -8.4 3.6666666666666665 Benign/Likely benign 0 -94077 Simple 143936796 - . Benign 2 2 not specified;Polycystic liver disease 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -94078 Simple 186375 C . Benign 2 2 not specified;Polycystic liver disease 2016-08-05 -12.0 1.0 Benign/Likely benign 1 -94079 Simple 11557488 A . Benign 2 2 not specified;Polycystic liver disease 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -94081 Simple 3217229 - . Benign/Likely benign 2 2 not specified;Polycystic liver disease 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -94082 Simple 113913469 TCTC . Benign 3 7 Noonan syndrome;not specified;not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-05-09 -30.6 2.2857142857142856 Benign 0 -94083 Simple 61752962 T . Benign/Likely benign 2 7 Arts syndrome;Phosphoribosylpyrophosphate synthetase superactivity;Charcot-Marie-Tooth Neuropathy X;not specified;Charcot-Marie-Tooth, X-linked;Nonsyndromic Hearing Loss, X-Linked 2017-07-31 -25.8 1.8571428571428572 Benign 1 -94084 Simple 55829339 A . Benign 2 1 not specified 2013-08-26 . 4.0 . 0 -94085 Simple 4747203 C . Benign/Likely benign 2 6 Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease;CDH23-Related Disorders 2016-06-14 -31.2 1.5 Benign 1 -94089 Simple 12478318 G . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified;Congenital Indifference to Pain 2017-08-22 -16.2 1.6666666666666667 Benign/Likely benign 0 -94092 Simple 3750904 C . Benign/Likely benign 2 9 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-08-22 -52.2 1.2222222222222223 Benign 1 -94094 Simple 13376679 C . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -94095 Simple 2758735 G . Benign 2 4 not specified;Primary Microcephaly, Recessive 2016-06-14 -18.0 3.5 Benign/Likely benign 1 -94097 Simple 146387723 T . Benign 2 2 not specified 2016-01-04 -9.600000000000001 3.0 Benign/Likely benign 1 -94099 Simple 2631365 C . Benign 2 4 Renal carnitine transport defect;not specified 2017-08-01 -24.0 0.75 Benign 0 -94101 Simple 274558 G . Benign 2 4 Renal carnitine transport defect;not specified 2017-08-01 -24.0 0.75 Benign 0 -94102 Simple 274557 C . Benign 2 3 Renal carnitine transport defect;not specified 2016-07-27 -17.4 1.3333333333333333 Benign/Likely benign 1 -94104 Simple 398123693 . . Pathogenic 2 2 Microphthalmia syndromic 3;not provided 2016-03-22 11.4 1.5 Pathogenic/Likely pathogenic 1 -94105 Simple 144530684 T . Benign 2 1 not specified 2013-11-20 . 4.0 . 0 -94106 Simple 141478957 G . Benign/Likely benign 2 3 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2017-03-28 -13.8 3.0 Benign/Likely benign 0 -94107 Simple 148697943 A . Benign 2 4 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2017-02-27 -21.0 2.25 Benign/Likely benign 1 -94109 Simple 398123694 A . Uncertain significance 2 2 Early infantile epileptic encephalopathy 2;not specified 2013-08-27 -0.39 4.5 Uncertain significance 0 -94110 Simple 35693326 A . Benign 2 5 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like;not provided 2017-08-07 -23.4 3.0 Benign/Likely benign 1 -94111 Simple 36022183 T . Benign 2 4 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2017-07-20 -16.8 3.75 Benign/Likely benign 1 -94112 Simple 139155110 A . Benign 2 4 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2017-07-20 -16.8 3.75 Benign/Likely benign 1 -94113 Simple 267606715 A . Pathogenic/Likely pathogenic 2 2 Early infantile epileptic encephalopathy 2;not provided 2017-04-14 8.1 2.0 Likely pathogenic 1 -94117 Simple 145304925 T . Benign/Likely benign 2 5 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-01 -20.4 2.0 Benign/Likely benign 0 -94118 Simple 117372398 T . Benign/Likely benign 2 5 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-27 -19.2 2.6 Benign/Likely benign 0 -94120 Simple 907610 C . Benign/Likely benign 2 4 Arthrogryposis multiplex congenita;Arthrogryposis multiplex congenita distal;not specified;not provided 2016-06-14 -17.4 1.25 Benign/Likely benign 0 -94121 Simple 79882576 A . Benign/Likely benign 2 4 Arthrogryposis multiplex congenita;not specified;Nemaline Myopathy, Dominant 2016-06-14 -15.0 2.25 Benign/Likely benign 0 -94122 Simple 56249943 T . Benign/Likely benign 2 6 Arthrogryposis multiplex congenita;not specified;not provided;Nemaline Myopathy, Dominant 2016-06-14 -24.0 2.6666666666666665 Benign 1 -94124 Simple 35401252 GG . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;not specified;not provided;Nemaline Myopathy, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -94125 Simple 35401252 GGGG . Benign 2 1 Arthrogryposis multiplex congenita distal type 1;not specified 2017-08-09 . 0.0 . 0 -94127 Simple 2064318 G . Benign 2 4 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-09-16 -22.2 1.75 Benign/Likely benign 1 -94128 Simple 150480343 A . Uncertain significance 2 2 not specified 2017-04-04 -0.6 0.5 Uncertain significance 0 -94130 Simple 7193058 A . Benign 2 2 not specified;Uromodulin-associated kidney disease 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -94131 Simple 13335818 T . Benign 2 2 not specified;Uromodulin-associated kidney disease 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -94132 Simple 28544423 T . Benign 2 2 not specified;Uromodulin-associated kidney disease 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -94134 Simple 80149580 C . Benign/Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -7.8 2.0 Likely benign 1 -94135 Simple 75937132 C . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -94138 Simple 61942218 C . Benign/Likely benign 2 4 not specified;Kabuki syndrome 2017-08-01 -18.0 2.0 Benign/Likely benign 0 -94142 Simple 3782357 T . Benign 2 5 not specified;Kabuki syndrome 2016-12-27 -27.6 1.8 Benign 0 -94152 Simple 398123709 - . Uncertain significance 2 2 not specified;Kabuki syndrome 2016-06-14 -0.48 3.0 Uncertain significance 0 -94154 Simple 80132640 G . Benign/Likely benign 2 5 not specified;Kabuki syndrome 2016-11-28 -23.4 2.2 Benign/Likely benign 0 -94155 Simple 398123710 C . Uncertain significance 2 2 not specified 2016-04-08 -0.48 3.0 Uncertain significance 0 -94158 Simple 3741622 C . Benign 2 5 not specified;Kabuki syndrome 2016-12-27 -27.0 2.0 Benign 0 -94164 Simple 398123716 - . Pathogenic/Likely pathogenic 2 2 Kabuki syndrome 1;not provided 2016-10-31 6.6 3.0 Likely pathogenic 1 -94167 Simple 201119371 A . Benign/Likely benign 2 5 not specified;Kabuki syndrome 2017-04-23 -18.6 2.0 Benign/Likely benign 0 -94168 Simple 147210845 GG . Benign/Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -4.8 3.0 Likely benign 1 -94169 Simple 11168830 A . Benign 2 3 not specified;Kabuki syndrome 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -94172 Simple 75340924 T . Benign 2 4 not specified;Kabuki syndrome 2017-07-11 -21.6 1.75 Benign/Likely benign 1 -94173 Simple 74830946 G . Benign 2 2 not specified 2016-03-16 -9.6 3.0 Benign/Likely benign 1 -94174 Simple 1064210 T . Benign 2 4 not specified;Kabuki syndrome 2017-07-27 -21.6 1.75 Benign/Likely benign 1 -94176 Simple 398123721 A . Pathogenic, other 2 1 Kabuki syndrome 1;not provided 2013-02-08 . 5.0 . 0 -94189 Simple 55776396 C . Benign/Likely benign 2 4 not specified;Kabuki syndrome 2016-11-28 -16.2 3.0 Benign/Likely benign 0 -94193 Simple 34546217 - . Benign 2 3 not specified 2016-12-27 -15.6 2.3333333333333335 Benign/Likely benign 1 -94197 Simple 185660524 A . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2017-06-27 -14.4 1.0 Benign/Likely benign 0 -94201 Simple . . . Uncertain significance 2 2 not specified 2017-05-05 -0.48 2.5 Uncertain significance 0 -94202 Simple 75226229 A . Benign 2 4 not specified;Kabuki syndrome 2017-07-16 -21.0 2.0 Benign/Likely benign 1 -94203 Simple 55865069 T . Benign/Likely benign 2 5 not specified;Kabuki syndrome 2016-11-28 -21.0 3.0 Benign/Likely benign 0 -94206 Simple 2241726 A . Benign 2 5 not specified;Kabuki syndrome 2016-12-27 -27.0 2.0 Benign 0 -94213 Simple 184377216 C . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -9.0 3.0 Benign/Likely benign 0 -94214 Simple 55776244 - . Benign 2 4 not specified;Kabuki syndrome 2017-07-27 -21.6 1.75 Benign/Likely benign 1 -94216 Simple 398123744 - . Pathogenic 2 2 Kabuki syndrome 1 2015-03-30 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -94222 Simple 114731584 G . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -94226 Simple 111924728 A . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -94228 Simple 78764337 G . Benign 2 1 not specified 2012-07-06 . 5.0 . 0 -94231 Simple 75783546 A . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -94233 Simple 77794669 T . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -94239 Simple 398123753 - . Pathogenic/Likely pathogenic 2 2 Kabuki syndrome 1 2016-01-04 9.600000000000001 3.0 Pathogenic/Likely pathogenic 0 -94240 Simple 201190869 A . Benign/Likely benign 2 3 not specified;not provided;Kabuki syndrome 2017-09-25 -11.4 1.3333333333333333 Benign/Likely benign 0 -94242 Simple 189199944 A . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-07-09 -12.6 2.3333333333333335 Benign/Likely benign 0 -94247 Simple 3741626 A . Benign 2 4 not specified;Kabuki syndrome 2016-07-23 -19.8 2.75 Benign/Likely benign 1 -94248 Simple 10747559 A . Benign 2 5 not specified;Kabuki syndrome 2016-12-27 -27.0 2.0 Benign 0 -94250 Simple 189888707 A . Benign/Likely benign 2 5 not specified;not provided;Kabuki syndrome 2016-11-30 -25.2 1.6 Benign 1 -94254 Simple 145186737 C . Benign/Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -7.2 2.5 Likely benign 1 -94255 Simple 201452917 A . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -9.6 2.6666666666666665 Benign/Likely benign 0 -94257 Simple 116686402 A . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -94260 Simple 199547661 A . Benign/Likely benign 2 4 not specified;Kabuki syndrome 2017-06-16 -16.8 1.25 Benign/Likely benign 0 -94264 Simple 150724610 C . Benign 2 4 Dysferlinopathy;not specified;not provided 2017-08-11 -24.0 0.5 Benign 0 -94265 Simple 35982795 T . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -21.6 1.8 Benign/Likely benign 0 -94266 Simple 398123765 C . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided 2017-11-21 18.6 3.0 Pathogenic 0 -94268 Simple 4852801 T . Benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -26.4 2.2 Benign 0 -94269 Simple 202044973 A . Pathogenic 2 5 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided 2017-10-04 28.200000000000003 1.2 Pathogenic 0 -94270 Simple 61740288 A . Benign/Likely benign 2 4 Dysferlinopathy;not specified 2017-08-07 -15.6 1.5 Benign/Likely benign 0 -94271 Simple 398123767 AA . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B 2016-11-02 24.0 1.0 Pathogenic 0 -94275 Simple 76402294 G . Benign/Likely benign 2 4 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -94278 Simple 377735262 T . Pathogenic 2 5 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided;DYSF-Related Disorders 2017-03-28 28.200000000000003 1.4 Pathogenic 0 -94279 Simple 35984374 A . Benign/Likely benign 2 4 Dysferlinopathy;not specified 2017-08-01 -20.4 2.25 Benign/Likely benign 0 -94280 Simple 146261069 T . Uncertain significance 2 3 Dysferlinopathy;not specified 2017-03-28 -0.87 0.6666666666666666 Uncertain significance 0 -94281 Simple 2303596 C . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -27.6 1.8 Benign 1 -94282 Simple 35721373 T . Benign/Likely benign 2 6 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -25.8 2.0 Benign 1 -94284 Simple 111389127 T . Benign 2 2 not specified 2016-02-24 -9.0 3.5 Benign/Likely benign 1 -94285 Simple 200853014 A . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.78 2.3333333333333335 Uncertain significance 0 -94288 Simple 12470028 A . Benign 2 2 not specified 2016-01-28 -10.8 2.0 Benign/Likely benign 1 -94289 Simple 34671418 G . Benign/Likely benign 2 5 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -21.0 1.8 Benign/Likely benign 0 -94290 Simple 2288355 T . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -27.6 1.8 Benign 1 -94291 Simple 140108514 A . Pathogenic/Likely pathogenic 2 8 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided 2016-07-29 41.1 1.875 Pathogenic 1 -94293 Simple 148902254 A . Benign/Likely benign 2 3 Dysferlinopathy;not specified 2017-07-19 -13.2 1.3333333333333333 Benign/Likely benign 0 -94294 Simple 34836829 A . Benign/Likely benign 2 4 Dysferlinopathy;not specified 2017-08-08 -20.4 2.25 Benign/Likely benign 0 -94297 Simple 3764971 A . Benign 2 2 not specified 2016-01-18 -9.600000000000001 3.0 Benign/Likely benign 1 -94299 Simple 398123778 A . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -94300 Simple 34211915 A . Benign/Likely benign 2 3 Dysferlinopathy;not specified 2017-08-08 -15.0 2.3333333333333335 Benign/Likely benign 0 -94301 Simple 1064794176 CGGAGGCGGAGG . Benign/Likely benign 2 5 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-10-11 -23.4 0.8 Benign/Likely benign 0 -94305 Simple 398123781 AA . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy 2017-02-07 16.8 4.0 Pathogenic 0 -94306 Simple 13421969 T . Benign 2 2 not specified 2016-03-02 -9.600000000000001 3.0 Benign/Likely benign 1 -94308 Simple 398123782 - . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B 2014-06-11 15.6 4.5 Pathogenic 0 -94310 Simple 114968209 T . Benign 2 3 not specified 2016-03-03 -13.8 3.3333333333333335 Benign/Likely benign 1 -94312 Simple 34603128 T . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -21.6 1.8 Benign/Likely benign 0 -94314 Simple 11558179 T . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -26.4 2.2 Benign 1 -94315 Simple 61742872 T . Benign/Likely benign 2 3 Dysferlinopathy;not specified 2017-08-01 -16.2 1.6666666666666667 Benign/Likely benign 0 -94316 Simple 2303606 A . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -27.6 1.8 Benign 1 -94318 Simple 2303607 T . Benign/Likely benign 2 5 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -21.6 1.6 Benign/Likely benign 0 -94319 Simple 111935215 A . Benign 2 2 not specified 2016-01-19 -9.0 3.5 Benign/Likely benign 1 -94320 Simple 398123786 CC . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy 2017-03-02 24.0 1.0 Pathogenic 0 -94322 Simple 139654844 A . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -94326 Simple 115170960 C . Benign 2 3 not specified 2016-02-10 -16.200000000000003 2.0 Benign/Likely benign 1 -94329 Simple 185596534 A . Uncertain significance 2 4 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-07-07 -1.17 1.25 Uncertain significance 0 -94331 Simple 141704244 T . Uncertain significance 2 2 Dysferlinopathy;not specified 2017-06-20 -0.5700000000000001 1.0 Uncertain significance 0 -94334 Simple 34999029 A . Benign/Likely benign 2 3 Dysferlinopathy;not specified 2017-07-26 -13.2 1.6666666666666667 Benign/Likely benign 0 -94341 Simple 115013641 A . Benign/Likely benign 2 4 Dysferlinopathy;not specified 2017-06-01 -14.7 0.75 Benign/Likely benign 0 -94343 Simple 13407355 G . Benign/Likely benign 2 5 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-24 -21.6 1.6 Benign/Likely benign 0 -94345 Simple 35392229 C . Benign/Likely benign 2 5 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -22.8 1.2 Benign/Likely benign 0 -94346 Simple 1863812 C . Benign 2 3 not specified 2016-04-25 -16.8 1.6666666666666667 Benign/Likely benign 1 -94347 Simple 398123797 - . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B 2016-06-02 23.4 1.25 Pathogenic 0 -94348 Simple 17718530 C . Benign/Likely benign 2 6 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Myopathy, distal, with anterior tibial onset;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-16 -26.4 1.8333333333333333 Benign 1 -94351 Simple 398123799 AA . Pathogenic 2 6 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy;not provided 2017-03-16 31.8 2.0 Pathogenic 0 -94352 Simple 373585652 T . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B 2016-11-02 18.6 3.25 Pathogenic 0 -94353 Simple 150834671 G . Uncertain significance 2 5 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -1.47 0.8 Uncertain significance 0 -94354 Simple 2559082 T . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -20.4 2.2 Benign/Likely benign 0 -94356 Simple 61104194 T . Benign 2 2 not specified 2016-01-30 -10.8 2.0 Benign/Likely benign 1 -94361 Simple 13428076 C . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -21.6 1.8 Benign/Likely benign 0 -94364 Simple 11903960 C . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -21.6 1.8 Benign/Likely benign 0 -94368 Simple 12713756 A . Benign 2 2 not specified 2016-01-05 -9.600000000000001 3.0 Benign/Likely benign 1 -94369 Simple 36122356 T . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -19.8 2.4 Benign/Likely benign 0 -94370 Simple 3815049 G . Benign/Likely benign 2 1 not specified 2012-12-03 . 5.0 . 0 -94374 Simple 73470569 A . Benign 2 4 Mental retardation, CASK-related, X-linked;not specified 2017-08-12 -17.4 3.5 Benign/Likely benign 1 -94375 Simple 143991107 A . Benign/Likely benign 2 2 Mental retardation, CASK-related, X-linked;not specified 2017-04-29 -8.7 1.0 Benign/Likely benign 0 -94378 Simple 41431245 G . Benign 2 3 Mental retardation, CASK-related, X-linked;not specified 2017-08-09 -13.8 3.0 Benign/Likely benign 1 -94380 Simple 60224379 A . Benign/Likely benign 2 4 Congenital disorder of glycosylation type 1E;Congenital disorder of glycosylation;not specified 2017-08-09 -18.0 2.0 Benign/Likely benign 0 -94381 Simple 843358 G . Benign/Likely benign 2 2 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -94384 Simple 398123812 A . Pathogenic 2 2 Myoclonic dystonia;not provided 2017-02-24 9.6 3.0 Pathogenic/Likely pathogenic 1 -94385 Simple 144830740 G . Benign/Likely benign 2 4 Holoprosencephaly sequence;not specified;Holoprosencephaly 2017-04-06 -18.6 1.75 Benign/Likely benign 0 -94387 Simple 4472867 C . Benign 2 1 not specified 2013-08-20 . 4.0 . 0 -94388 Simple 72561725 A . Benign/Likely benign 2 8 Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-08-15 -28.8 1.875 Benign 1 -94392 Simple 398123814 CC . Pathogenic/Likely pathogenic 2 2 Deafness, autosomal recessive 1A 2015-02-05 6.0 4.0 Likely pathogenic 1 -94419 Simple 113726961 T . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 3B 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -94421 Simple 398123827 A . Pathogenic 2 5 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-05-22 26.4 2.0 Pathogenic 0 -94423 Simple 41303187 A . Benign/Likely benign 2 3 not specified;not provided 2017-05-17 -13.8 1.3333333333333333 Benign/Likely benign 0 -94428 Simple 398123832 A . Pathogenic 2 6 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-02-02 34.2 1.5 Pathogenic 0 -94436 Simple 398123839 - . Pathogenic 2 5 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2015-11-02 25.8 2.4 Pathogenic 0 -94453 Simple 34155804 A . Benign/Likely benign 2 6 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B 2017-07-31 -30.0 1.6666666666666667 Benign 1 -94470 Simple 112463388 C . Benign 2 5 Duchenne muscular dystrophy;not specified;not provided 2017-04-25 -27.0 1.8 Benign 0 -94471 Simple 140340626 G . Benign/Likely benign 2 3 Duchenne muscular dystrophy;not specified 2017-08-03 -10.2 1.3333333333333333 Benign/Likely benign 0 -94473 Simple 61733587 T . Benign 2 5 Duchenne muscular dystrophy;not specified;not provided;Cardiovascular phenotype 2017-08-01 -25.8 2.2 Benign 0 -94475 Simple 398123865 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2013-09-11 15.0 4.75 Pathogenic 0 -94476 Simple 5927083 C . Benign/Likely benign 2 8 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-01 -40.8 1.625 Benign 1 -94482 Simple 1800267 A . Benign/Likely benign 2 7 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-02 -34.8 1.8571428571428572 Benign 1 -94487 Simple 34563188 A . Benign 2 6 Duchenne muscular dystrophy;not specified;Cardiovascular phenotype 2017-07-27 -31.2 2.0 Benign 0 -94494 Simple 16998350 A . Benign 2 7 Duchenne muscular dystrophy;not specified;not provided;Cardiovascular phenotype 2017-07-25 -37.8 1.7142857142857142 Benign 0 -94495 Simple 228373 G . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 3B 2016-06-14 -17.4 2.5 Benign/Likely benign 0 -94504 Simple 398123883 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-03-02 18.6 3.25 Pathogenic 0 -94510 Simple 72468681 C . Benign 2 6 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy;Cardiovascular phenotype 2017-08-01 -32.4 1.8333333333333333 Benign 0 -94516 Simple 72468679 A . Benign/Likely benign 2 4 Duchenne muscular dystrophy;not specified 2017-07-28 -19.5 1.5 Benign/Likely benign 0 -94528 Simple 1028360 C . Benign/Likely benign 2 5 not specified;Dilated cardiomyopathy 3B;not provided 2016-06-14 -22.8 2.4 Benign/Likely benign 0 -94530 Simple 398123903 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-05-03 22.200000000000003 1.5 Pathogenic 0 -94539 Simple 199986217 A . Benign/Likely benign 2 3 Duchenne muscular dystrophy;not specified 2017-10-13 -15.0 0.3333333333333333 Benign/Likely benign 0 -94548 Simple 1800268 T . Benign 2 6 Duchenne muscular dystrophy;not specified;Cardiovascular phenotype 2017-08-05 -31.8 1.8333333333333333 Benign 0 -94554 Simple 398123923 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2015-01-16 19.2 3.0 Pathogenic 0 -94556 Simple 186833917 A . Benign 2 2 not specified 2014-05-02 -9.0 3.5 Benign/Likely benign 1 -94576 Simple 398123929 A . Pathogenic 2 5 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-02-03 29.4 1.2 Pathogenic 0 -94582 Simple 184220727 A . Benign 2 2 not specified 2016-04-04 -10.8 2.0 Benign/Likely benign 1 -94587 Simple 3827462 A . Benign/Likely benign 2 7 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Dilated cardiomyopathy;Cardiovascular phenotype 2017-07-31 -32.1 1.8571428571428572 Benign 1 -94589 Simple 398123937 T . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2013-08-27 16.8 4.0 Pathogenic 0 -94603 Simple 143628111 A . Benign/Likely benign 2 6 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B 2017-08-02 -28.8 1.8333333333333333 Benign 1 -94604 Simple 1800269 A . Benign/Likely benign 2 6 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-08 -28.8 2.0 Benign 1 -94607 Simple 72468656 G . Benign 2 2 not specified 2015-08-10 -10.2 2.5 Benign/Likely benign 1 -94611 Simple 148781346 A . Likely benign 2 3 Duchenne muscular dystrophy;not specified 2017-06-12 -8.7 0.6666666666666666 Benign/Likely benign 1 -94615 Simple 28715870 C . Benign/Likely benign 2 7 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;not provided;Cardiovascular phenotype 2017-08-04 -34.2 2.0 Benign 1 -94616 Simple 147474070 A . Benign/Likely benign 2 5 Duchenne muscular dystrophy;not specified;Cardiovascular phenotype 2017-04-17 -22.8 1.4 Benign/Likely benign 0 -94617 Simple 41303181 C . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 3B 2016-06-14 -17.4 2.5 Benign/Likely benign 0 -94618 Simple 72468647 C . Benign/Likely benign 2 5 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B 2017-07-14 -24.6 1.6 Benign 1 -94620 Simple 72468646 A . Benign 2 2 not specified 2016-01-25 -9.600000000000001 3.0 Benign/Likely benign 1 -94632 Simple 72468638 C . Benign/Likely benign 2 3 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B 2017-04-04 -14.4 1.0 Benign/Likely benign 0 -94634 Simple 398123962 - . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-04-27 22.200000000000003 1.5 Pathogenic 0 -94638 Simple 398123966 G . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-05-11 -0.51 2.0 Uncertain significance 0 -94642 Simple 61733574 A . Benign/Likely benign 2 6 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-02 -30.0 1.6666666666666667 Benign 1 -94646 Simple 398123973 A . Pathogenic 2 2 Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-06-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -94648 Simple 16990264 T . Benign/Likely benign 2 6 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-02 -30.0 1.6666666666666667 Benign 1 -94656 Simple 34102501 A . Benign/Likely benign 2 4 Duchenne muscular dystrophy;not specified;not provided 2017-08-28 -17.1 1.0 Benign/Likely benign 0 -94657 Simple 1801187 T . Benign/Likely benign 2 8 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-01 -41.4 1.5 Benign 1 -94658 Simple 398123981 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2014-01-22 16.8 4.0 Pathogenic 0 -94669 Simple 1064325 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2016-04-25 18.6 3.25 Pathogenic 0 -94672 Simple 189522063 C . Benign 2 2 not specified 2015-09-22 -10.2 2.5 Benign/Likely benign 1 -94679 Simple 143159113 G . Benign/Likely benign 2 5 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B 2017-08-08 -22.8 2.2 Benign/Likely benign 0 -94684 Simple 398123999 A . Pathogenic 2 6 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-04-18 30.0 2.5 Pathogenic 0 -94687 Simple 147927593 A . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-04-13 -9.0 0.5 Benign/Likely benign 0 -94703 Simple 16990169 A . Benign/Likely benign 2 5 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-04 -24.0 1.8 Benign 1 -94705 Simple 398124012 - . Pathogenic 2 2 Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2016-10-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -94741 Simple 1800273 A . Benign/Likely benign 2 8 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-09 -40.8 1.625 Benign 1 -94742 Simple 377080659 T . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 3B 2016-06-14 -0.51 2.5 Uncertain significance 0 -94746 Simple 398124034 - . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-04-03 22.200000000000003 1.5 Pathogenic 0 -94747 Simple 72466595 A . Benign 2 3 Duchenne muscular dystrophy;not specified 2017-05-02 -16.8 1.3333333333333333 Benign/Likely benign 1 -94757 Simple 72466590 T . Benign/Likely benign 2 6 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-29 -25.2 1.0 Benign 1 -94765 Simple 142153424 G . Benign 2 3 Duchenne muscular dystrophy;not specified 2017-07-21 -15.6 2.0 Benign/Likely benign 1 -94767 Simple 72466585 C . Benign 2 3 not specified 2015-01-13 -13.8 3.3333333333333335 Benign/Likely benign 1 -94771 Simple 368803197 T . Benign/Likely benign 2 4 Duchenne muscular dystrophy;not specified 2017-07-03 -14.1 1.5 Benign/Likely benign 0 -94776 Simple 1801188 G . Benign/Likely benign 2 8 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-01 -41.4 1.5 Benign 1 -94783 Simple 2270672 A . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 3B 2016-06-14 -17.4 2.5 Benign/Likely benign 0 -94784 Simple 1800264 G . Benign/Likely benign 2 6 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-02 -27.3 1.6666666666666667 Benign 1 -94799 Simple 72470514 T . Benign 2 2 not specified 2014-05-09 -9.6 3.0 Benign/Likely benign 1 -94800 Simple 72470515 C . Benign 2 2 not specified 2014-05-09 -9.6 3.0 Benign/Likely benign 1 -94805 Simple 1800265 T . Benign/Likely benign 2 7 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-04-28 -34.8 1.8571428571428572 Benign 1 -94810 Simple 398124074 A . Pathogenic 2 5 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-03-16 24.0 2.8 Pathogenic 0 -94812 Simple 148241865 C . Benign 2 2 not specified 2014-09-15 -9.0 3.5 Benign/Likely benign 1 -94837 Simple 398124091 C . Pathogenic/Likely pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-05-22 17.4 2.25 Pathogenic 1 -94839 Simple 398124092 A . Pathogenic 2 5 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2016-08-03 23.4 3.2 Pathogenic 0 -94844 Simple 79920566 AA . Benign/Likely benign 2 4 Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B 2017-08-01 -19.8 1.0 Benign/Likely benign 0 -94854 Simple 2293668 G . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 3B 2016-06-14 -17.4 2.5 Benign/Likely benign 0 -94856 Simple 141392048 G . Benign/Likely benign 2 6 Primary dilated cardiomyopathy;Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-09-15 -21.9 1.8333333333333333 Benign/Likely benign 0 -94861 Simple 12690372 C . Benign/Likely benign 2 3 Duchenne muscular dystrophy;not specified;Cardiovascular phenotype 2017-05-22 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -94874 Simple 398124111 AGTAGT . Benign/Likely benign 2 2 not specified;not provided;Spastic paraplegia 2017-08-03 -8.7 1.0 Benign/Likely benign 0 -94882 Simple 61751437 T . Benign 2 3 not specified;Spastic paraplegia 2017-05-01 -14.4 2.6666666666666665 Benign/Likely benign 1 -94883 Simple 398124115 T . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2017-07-26 -0.48 2.5 Uncertain significance 0 -94884 Simple 4251689 T . Benign 2 1 not specified 2014-05-08 . 3.0 . 0 -94885 Simple 2306386 C . Benign 2 2 not specified 2016-03-29 -12.0 1.0 Benign/Likely benign 1 -94886 Simple 4244611 A . Benign 2 2 not specified 2016-03-29 -10.8 2.0 Benign/Likely benign 1 -94887 Simple 35126141 T . Benign/Likely benign 2 2 not specified;not provided 2017-01-23 -6.6 3.0 Likely benign 1 -94888 Simple 398124116 A . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2017-07-18 -0.48 2.5 Uncertain significance 0 -94889 Simple 398124117 G . Pathogenic 2 2 Baller-Gerold syndrome;Rothmund-Thomson syndrome 2017-08-04 9.6 2.5 Pathogenic/Likely pathogenic 1 -94890 Simple 137975310 T . Benign 2 2 Baller-Gerold syndrome;not specified 2017-08-11 -9.6 2.5 Benign/Likely benign 1 -94891 Simple 4251691 T . Benign 2 1 not specified 2014-05-08 . 3.0 . 0 -94893 Simple 4244610 A . Benign 2 1 not specified 2014-05-08 . 3.0 . 0 -94894 Simple 756627 A . Benign 2 1 not specified 2014-05-08 . 3.0 . 0 -94896 Simple 34371341 T . Benign 2 2 Baller-Gerold syndrome;not specified 2017-07-06 -10.2 2.0 Benign/Likely benign 1 -94897 Simple 4244613 A . Benign 2 2 not specified 2016-03-29 -12.0 1.0 Benign/Likely benign 1 -94898 Simple 4244612 G . Benign 2 1 not specified 2016-03-16 . 1.0 . 0 -94899 Simple 34700133 A . Benign 2 2 Baller-Gerold syndrome;not specified 2017-07-06 -10.2 2.0 Benign/Likely benign 1 -94900 Simple 4663722 G . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -94901 Simple 111402193 T . Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-10-24 -11.7 0.75 Benign/Likely benign 1 -94902 Simple 114750216 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-05-08 -15.6 1.5 Benign/Likely benign 0 -94903 Simple 113716915 C . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-21 -15.6 1.5 Benign/Likely benign 0 -94904 Simple 114511558 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-19 -15.6 1.75 Benign/Likely benign 0 -94905 Simple 7579816 C . Benign/Likely benign 2 2 not specified 2016-06-20 -9.6 3.0 Benign/Likely benign 0 -94906 Simple 112896869 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -18.6 1.75 Benign/Likely benign 0 -94907 Simple 112010940 G . Benign/Likely benign 2 6 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-27 -30.0 1.6666666666666667 Benign 1 -94908 Simple 113897824 C . Benign/Likely benign 2 6 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-27 -30.0 1.6666666666666667 Benign 1 -94909 Simple 112040282 A . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -94910 Simple 112913396 C . Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-18 -11.7 0.75 Benign/Likely benign 1 -94911 Simple 398124119 A . Pathogenic/Likely pathogenic 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2017-11-01 10.2 3.3333333333333335 Pathogenic/Likely pathogenic 0 -94912 Simple 34934127 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided 2017-08-08 -24.0 1.8 Benign 1 -94913 Simple 34904623 T . Benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-02 -25.8 2.2 Benign 0 -94914 Simple 36092870 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-02 -18.6 1.75 Benign/Likely benign 0 -94915 Simple 113155945 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-09 -21.6 1.75 Benign/Likely benign 0 -94916 Simple 77181645 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-09 -22.2 1.5 Benign/Likely benign 0 -94917 Simple 34367758 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-17 -18.0 2.0 Benign/Likely benign 0 -94918 Simple 73998896 T . Benign/Likely benign 2 2 not specified 2016-06-20 -9.6 3.0 Benign/Likely benign 0 -94920 Simple 116238578 T . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2016-04-29 -8.4 1.5 Benign/Likely benign 0 -94921 Simple 12622093 A . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -94922 Simple 112638391 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-28 -23.4 1.0 Benign/Likely benign 0 -94924 Simple 11896521 G . Benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-09 -26.4 2.0 Benign 0 -94925 Simple 35489467 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-17 -18.6 1.75 Benign/Likely benign 0 -94927 Simple 35524572 T . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2017-07-28 -6.6 2.5 Likely benign 1 -94928 Simple 35114079 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-11 -16.2 1.25 Benign/Likely benign 0 -94929 Simple 80272723 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided 2017-08-08 -22.2 1.4 Benign/Likely benign 0 -94931 Simple 3791000 T . Benign/Likely benign 2 2 not specified 2016-08-08 -9.6 3.0 Benign/Likely benign 0 -94932 Simple 75780727 T . Benign/Likely benign 2 6 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided 2017-08-09 -31.8 2.0 Benign 1 -94933 Simple 2646260 G . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -94936 Simple 2645774 A . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -94937 Simple 113074898 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-09-20 -15.6 1.5 Benign/Likely benign 0 -94938 Simple 61729839 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-08-11 -24.0 1.6 Benign 1 -94941 Simple 111231885 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -18.6 1.75 Benign/Likely benign 0 -94942 Simple 35273032 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -15.6 1.5 Benign/Likely benign 0 -94943 Simple 34340053 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-28 -18.6 1.75 Benign/Likely benign 0 -94945 Simple 77632596 C . Benign/Likely benign 2 7 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided 2017-07-25 -26.4 1.5714285714285714 Benign 1 -94950 Simple 11385011 AA . Benign 2 1 Collagen VI-related myopathy;not specified 2016-06-14 . 1.0 . 0 -94952 Simple 111228504 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-31 -18.0 2.0 Benign/Likely benign 0 -94954 Simple 398124125 G . Uncertain significance 2 2 not specified 2017-10-12 -0.51 2.0 Uncertain significance 0 -94955 Simple 112637114 T . Benign 2 2 not specified 2016-08-31 -10.2 2.5 Benign/Likely benign 1 -94956 Simple 398124126 T . Pathogenic 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2016-08-15 15.6 2.3333333333333335 Pathogenic 0 -94957 Simple 139622600 A . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-19 -12.6 2.0 Benign/Likely benign 0 -94959 Simple 398124128 T . Pathogenic 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2016-08-11 18.0 1.0 Pathogenic 0 -94960 Simple 73998889 A . Benign 2 1 not specified 2012-11-05 . 5.0 . 0 -94962 Simple 2646254 T . Benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-06-23 -25.2 2.4 Benign 0 -94963 Simple 78398512 C . Benign/Likely benign 2 1 not specified 2012-11-05 . 5.0 . 0 -94967 Simple 36117715 A . Benign 2 6 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-08-08 -31.2 2.0 Benign 0 -94968 Simple 3790993 G . Benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-06-23 -25.2 2.4 Benign 0 -94970 Simple 141586922 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-07-26 -0.51 2.0 Uncertain significance 0 -94972 Simple 2646263 G . Benign 2 1 not specified 2012-11-05 . 5.0 . 0 -94973 Simple 72986111 A . Benign 2 1 not specified 2012-11-05 . 5.0 . 0 -94974 Simple 2646264 G . Benign 2 1 not specified 2012-11-05 . 5.0 . 0 -94975 Simple 2646265 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-06-20 -21.0 2.0 Benign/Likely benign 0 -94976 Simple 113961575 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-09-20 -15.6 1.75 Benign/Likely benign 0 -94977 Simple 35993209 C . Benign/Likely benign 2 7 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-06-27 -34.8 1.7142857142857142 Benign 1 -94978 Simple 35902696 G . Benign/Likely benign 2 7 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-06-27 -34.8 1.7142857142857142 Benign 1 -94979 Simple 2270656 T . Benign 2 1 not specified 2012-11-05 . 5.0 . 0 -94982 Simple 6725567 T . Benign 2 1 not specified 2012-11-05 . 5.0 . 0 -94984 Simple 116729313 C . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -94985 Simple 10084221 A . Benign 2 6 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-08-08 -31.2 2.0 Benign 0 -94986 Simple 111803773 A . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2017-06-06 -6.6 2.5 Likely benign 1 -94988 Simple 34181055 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-08-11 -24.0 1.6 Benign 1 -94989 Simple 2646258 A . Benign/Likely benign 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-06-19 -15.6 2.0 Benign/Likely benign 0 -94990 Simple 2291795 T . Benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-06-19 -25.2 2.4 Benign 0 -94991 Simple 151079701 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-14 -25.8 1.2 Benign 1 -94992 Simple 11897148 G . Benign/Likely benign 2 1 not specified 2012-11-02 . 5.0 . 0 -94993 Simple 59232721 A . Benign 2 1 not specified 2012-11-05 . 5.0 . 0 -94995 Simple 79606264 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-03 -18.0 2.0 Benign/Likely benign 0 -94996 Simple 144249704 A . Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-03-28 -12.0 0.75 Benign/Likely benign 1 -94997 Simple 34558385 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-06-19 -21.0 2.0 Benign/Likely benign 0 -94998 Simple 4433949 T . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -94999 Simple 80193928 G . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-27 -24.6 1.6 Benign 1 -95001 Simple 79313758 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-12 -18.6 1.75 Benign/Likely benign 0 -95002 Simple 35763271 C . Benign/Likely benign 2 6 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-27 -28.8 2.0 Benign 1 -95003 Simple 61729844 C . Benign/Likely benign 2 3 Collagen VI-related myopathy;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -95006 Simple 36104025 G . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -95008 Simple 6728818 G . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -95009 Simple 11683438 T . Benign/Likely benign 2 3 Collagen VI-related myopathy;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -95010 Simple 11903206 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -21.6 1.6 Benign/Likely benign 0 -95011 Simple 7561625 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-02 -18.6 1.75 Benign/Likely benign 0 -95012 Simple 35879189 - . Benign 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -95013 Simple 11690358 C . Benign/Likely benign 2 3 Collagen VI-related myopathy;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -95014 Simple 2270669 G . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -95015 Simple 111234422 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-16 -15.6 1.75 Benign/Likely benign 0 -95016 Simple 61729843 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-09 -18.0 2.0 Benign/Likely benign 0 -95017 Simple 10201909 A . Benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -25.2 2.4 Benign 0 -95018 Simple 1131296 A . Benign 2 4 Collagen VI-related myopathy;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -95019 Simple 2270671 A . Benign/Likely benign 2 3 Collagen VI-related myopathy;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -95021 Simple 112290343 G . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-07 -22.2 2.4 Benign/Likely benign 0 -95022 Simple 13032404 A . Benign 2 1 not specified 2012-11-02 . 5.0 . 0 -95028 Simple 130018 A . Benign 2 1 not specified 2013-03-18 . 4.0 . 0 -95034 Simple 145733598 A . Benign 2 3 not specified;not provided 2017-02-17 -16.8 1.6666666666666667 Benign/Likely benign 1 -95035 Simple 142047649 A . Benign/Likely benign 2 4 Rubinstein-Taybi syndrome;not specified;not provided 2017-07-21 -16.2 1.5 Benign/Likely benign 0 -95036 Simple 146168040 T . Uncertain significance 2 2 Rubinstein-Taybi syndrome;not specified 2015-04-08 -0.48 3.0 Uncertain significance 0 -95037 Simple 61753380 T . Benign 2 2 Rubinstein-Taybi syndrome;not specified 2014-11-25 -8.4 4.0 Benign/Likely benign 1 -95039 Simple 142528559 A . Benign 2 2 not specified 2013-06-28 -7.800000000000001 4.5 Likely benign 2 -95040 Simple 61731383 T . Benign 2 2 not specified 2013-03-18 -7.800000000000001 4.5 Likely benign 2 -95044 Simple 150229705 A . Benign/Likely benign 2 1 not specified 2013-03-18 . 4.0 . 0 -95045 Simple 3025684 A . Benign 2 2 not specified 2013-03-18 -7.800000000000001 4.5 Likely benign 2 -95046 Simple 398124145 T . Pathogenic 2 2 Rubinstein-Taybi syndrome;not provided 2015-08-17 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -95049 Simple 56388626 T . Benign 2 2 not specified 2013-05-10 -7.800000000000001 4.5 Likely benign 2 -95054 Simple 61731405 C . Benign/Likely benign 2 2 not specified 2013-05-29 -7.800000000000001 4.5 Likely benign 1 -95057 Simple 112906840 C . Benign 2 2 not specified 2016-05-16 -9.6 3.0 Benign/Likely benign 1 -95058 Simple 181646656 A . Benign 2 3 Rubinstein-Taybi syndrome;not specified 2017-06-19 -13.8 3.0 Benign/Likely benign 1 -95059 Simple 200998860 G . Benign 2 2 not specified 2013-08-23 -7.800000000000001 4.5 Likely benign 2 -95062 Simple 62636220 C . Benign/Likely benign 2 2 not specified 2015-01-05 -6.6 4.0 Likely benign 1 -95063 Simple 55960450 C . Benign 2 3 Rubinstein-Taybi syndrome;not specified 2017-06-19 -13.8 3.0 Benign/Likely benign 1 -95065 Simple 139688311 T . Benign 2 2 not specified;not provided 2017-05-04 -10.2 2.0 Benign/Likely benign 1 -95066 Simple 3751845 A . Benign 2 3 Rubinstein-Taybi syndrome;not specified 2017-03-13 -13.8 3.0 Benign/Likely benign 1 -95067 Simple 55916120 C . Benign 2 4 Rubinstein-Taybi syndrome;not specified 2017-06-20 -19.8 2.5 Benign/Likely benign 1 -95070 Simple 3025702 G . Benign 2 3 Rubinstein-Taybi syndrome;not specified 2017-06-19 -13.8 3.0 Benign/Likely benign 1 -95071 Simple 398124151 T . Pathogenic 2 2 Glutaric aciduria, type 2;not provided 2015-04-17 9.0 3.5 Pathogenic/Likely pathogenic 1 -95072 Simple 398124152 T . Pathogenic 2 3 Glutaric aciduria, type 2;not provided 2016-10-27 15.0 2.6666666666666665 Pathogenic 0 -95075 Simple 11559290 T . Benign 2 2 Glutaric aciduria, type 2;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95077 Simple 147035080 G . Benign 2 1 not specified 2016-01-08 . 2.0 . 0 -95086 Simple 12011120 G . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -95089 Simple 1126744 C . Benign 2 1 not specified 2012-11-16 . 5.0 . 0 -95092 Simple 145644275 T . Benign/Likely benign 2 2 not specified;not provided 2017-06-14 -7.2 2.0 Likely benign 1 -95094 Simple 138723423 T . Benign/Likely benign 2 2 not specified;not provided 2017-06-01 -7.2 2.0 Likely benign 1 -95102 Simple 10172023 G . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -21.0 2.25 Benign/Likely benign 0 -95103 Simple 149639365 T . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified 2017-10-06 -13.2 1.3333333333333333 Benign/Likely benign 0 -95105 Simple 61254943 A . Benign 2 2 not specified 2016-01-05 -9.600000000000001 3.0 Benign/Likely benign 1 -95106 Simple 33988153 C . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -17.4 2.5 Benign/Likely benign 0 -95108 Simple 2288211 G . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -95109 Simple 2288210 G . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -95112 Simple 56026241 - . Benign 2 3 not specified;Nemaline Myopathy, Recessive 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -95113 Simple 149510427 A . Benign/Likely benign 2 5 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-09 -25.2 1.4 Benign 1 -95114 Simple 4664475 C . Benign/Likely benign 2 3 not specified;Nemaline Myopathy, Recessive 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -95115 Simple 377452683 - . Benign 2 3 Nemaline myopathy 2;not specified 2017-08-07 -16.2 1.6666666666666667 Benign/Likely benign 1 -95116 Simple 6721666 G . Benign 2 1 not specified 2013-04-05 . 4.0 . 0 -95117 Simple 398124168 - . Uncertain significance 2 3 Nemaline myopathy 2;not specified 2017-07-24 -0.78 2.0 Uncertain significance 0 -95119 Simple 202191938 A . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-07-14 -0.6 0.5 Uncertain significance 0 -95120 Simple 7575451 G . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -95122 Simple 2288195 A . Benign 2 2 not specified 2016-01-05 -9.600000000000001 3.0 Benign/Likely benign 1 -95125 Simple 79524813 T . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-07 -19.2 1.5 Benign/Likely benign 0 -95126 Simple 1061305 C . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -95127 Simple 398124170 T . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2016-06-13 -0.51 2.5 Uncertain significance 0 -95128 Simple 6735208 A . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -95129 Simple 187343008 C . Benign/Likely benign 2 5 Nemaline myopathy 2;not specified 2017-07-24 -24.0 1.8 Benign 1 -95131 Simple 7426114 T . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -95133 Simple 184262608 T . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified 2017-07-24 -19.2 1.5 Benign/Likely benign 0 -95134 Simple 61730780 T . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -19.2 1.5 Benign/Likely benign 0 -95136 Simple 4611637 G . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -95137 Simple 13013209 G . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -95138 Simple 398124172 - . Pathogenic/Likely pathogenic 2 2 Nemaline myopathy 2 2015-11-17 6.9 3.0 Likely pathogenic 1 -95139 Simple 35555631 T . Benign/Likely benign 2 2 not specified 2015-04-24 -6.9 3.0 Likely benign 1 -95145 Simple 284238 T . Benign 2 2 Zellweger syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95147 Simple 56218010 C . Benign 2 2 not specified 2013-01-10 -7.2 5.0 Likely benign 2 -95159 Simple 117199378 T . Benign/Likely benign 2 3 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -95164 Simple 150861748 T . Uncertain significance 2 5 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified 2017-08-17 -1.38 1.4 Uncertain significance 0 -95165 Simple 76647066 A . Benign/Likely benign 2 1 not specified 2012-11-15 . 5.0 . 0 -95166 Simple 34292743 A . Benign/Likely benign 2 6 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;not provided;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-08-01 -27.6 1.3333333333333333 Benign 1 -95167 Simple 113253213 A . Benign/Likely benign 2 3 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified 2017-06-28 -13.2 1.3333333333333333 Benign/Likely benign 0 -95168 Simple 73399532 G . Benign/Likely benign 2 1 not specified 2012-11-15 . 5.0 . 0 -95169 Simple 11913417 C . Benign/Likely benign 2 5 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-08-09 -20.4 2.0 Benign/Likely benign 0 -95170 Simple 73399520 T . Benign/Likely benign 2 5 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-07-27 -20.4 2.0 Benign/Likely benign 0 -95172 Simple 17722172 A . Benign/Likely benign 2 6 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-08-02 -21.9 2.5 Benign/Likely benign 0 -95174 Simple 59349720 A . Benign/Likely benign 2 5 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-08-09 -20.4 2.0 Benign/Likely benign 0 -95175 Simple 86487 A . Benign/Likely benign 2 3 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 0 -95176 Simple 36002910 A . Benign/Likely benign 2 5 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-08-11 -19.8 2.2 Benign/Likely benign 0 -95177 Simple 62225294 A . Benign/Likely benign 2 1 not specified 2012-11-15 . 5.0 . 0 -95181 Simple 10852891 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -95183 Simple 61750236 A . Benign/Likely benign 2 4 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-01-08 -15.600000000000001 2.25 Benign/Likely benign 0 -95184 Simple 61752387 A . Benign/Likely benign 2 5 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-08-01 -24.0 1.8 Benign 1 -95186 Simple 61750246 A . Benign 2 2 Rett syndrome;not specified 2015-12-01 -9.600000000000001 3.0 Benign/Likely benign 1 -95188 Simple 61753012 A . Benign 2 5 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified 2016-10-24 -24.6 2.8 Benign 0 -95189 Simple 3027928 A . Benign 2 6 Severe neonatal-onset encephalopathy with microcephaly;Rett syndrome;not specified 2017-08-12 -31.8 2.0 Benign 0 -95191 Simple 61753975 T . Benign 2 5 Severe neonatal-onset encephalopathy with microcephaly;not specified;not provided 2017-07-12 -23.400000000000002 3.0 Benign/Likely benign 1 -95192 Simple 3027927 T . Benign 2 5 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-08-10 -22.8 3.2 Benign/Likely benign 1 -95193 Simple 185957513 T . Benign 2 3 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-08-03 -13.2 3.3333333333333335 Benign/Likely benign 1 -95194 Simple 146107517 T . Benign/Likely benign 2 4 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified 2016-05-30 -17.1 2.75 Benign/Likely benign 0 -95195 Simple 61748397 A . Benign 2 2 not specified 2013-05-08 -8.4 4.0 Benign/Likely benign 1 -95196 Simple 61748408 C . Pathogenic 2 4 Mental retardation, X-linked, syndromic 13;Rett syndrome;not provided 2017-10-02 16.8 3.75 Pathogenic 0 -95197 Simple 61749711 A . Benign 2 4 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-06-16 -17.4 3.5 Benign/Likely benign 1 -95198 Simple 61749720 A . Benign 2 4 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified 2017-06-22 -21.6 1.75 Benign/Likely benign 1 -95200 Simple 61749747 A . Pathogenic 2 4 Mental retardation, X-linked, syndromic 13;Rett syndrome 2015-02-05 17.4 3.75 Pathogenic 0 -95201 Simple 1042870 A . Benign 2 4 Rett syndrome;not specified 2015-08-07 -18.0 3.5 Benign/Likely benign 1 -95202 Simple 61750241 - . Pathogenic 2 8 Angelman syndrome;Severe neonatal-onset encephalopathy with microcephaly;Mental retardation, X-linked, syndromic 13;Rett syndrome;not provided 2017-12-09 40.2 2.5 Pathogenic 0 -95203 Simple 61750243 A . Benign/Likely benign 2 2 not specified 2016-05-24 -7.2 2.5 Likely benign 1 -95205 Simple 61748423 A . Benign 2 5 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-02-24 -22.2 3.6 Benign/Likely benign 1 -95209 Simple 1062831 C . Benign/Likely benign 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -9.6 3.0 Benign/Likely benign 0 -95210 Simple 146986040 AA . Benign/Likely benign 2 4 Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-29 -18.0 0.25 Benign/Likely benign 0 -95211 Simple 139648092 T . Uncertain significance 2 3 not specified;not provided;Lissencephaly, Recessive 2016-08-19 -0.8999999999999999 1.0 Uncertain significance 0 -95212 Simple 41276154 T . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-07 -16.8 2.5 Benign/Likely benign 0 -95213 Simple 78008536 A . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-07-19 -18.0 2.0 Benign/Likely benign 0 -95217 Simple 115165703 G . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-07-28 -17.4 2.25 Benign/Likely benign 0 -95219 Simple 55689103 T . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-08-14 -19.2 1.25 Benign/Likely benign 0 -95220 Simple 115577014 C . Uncertain significance 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-06-24 -0.51 2.0 Uncertain significance 0 -95224 Simple 607755 G . Benign/Likely benign 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -9.6 3.0 Benign/Likely benign 0 -95226 Simple 200010849 T . Uncertain significance 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-02-14 -0.51 2.5 Uncertain significance 0 -95227 Simple 2075043 G . Benign/Likely benign 2 3 not specified;Lissencephaly, Recessive 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 0 -95228 Simple 362746 G . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-01 -17.4 2.25 Benign/Likely benign 0 -95230 Simple 2229864 G . Benign/Likely benign 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -9.6 3.0 Benign/Likely benign 0 -95231 Simple 3808039 C . Benign/Likely benign 2 3 not specified;Lissencephaly, Recessive 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -95233 Simple 2229862 A . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-14 -17.4 2.25 Benign/Likely benign 0 -95234 Simple 2711885 G . Benign/Likely benign 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -95238 Simple 141397961 - . Benign 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-08-07 -10.2 2.0 Benign/Likely benign 1 -95240 Simple 149713137 A . Uncertain significance 2 2 not specified 2015-07-31 -0.48 3.0 Uncertain significance 0 -95248 Simple 5030619 C . Benign/Likely benign 2 1 not specified 2014-01-14 . 4.0 . 0 -95249 Simple 56658066 - . Benign 2 2 not specified 2015-05-01 -9.0 3.5 Benign/Likely benign 1 -95251 Simple 72335867 . . Benign 2 2 not specified 2015-04-23 -9.600000000000001 3.0 Benign/Likely benign 1 -95254 Simple 34784349 T . Benign/Likely benign 2 4 FG syndrome;not specified;Cardiovascular phenotype 2017-07-13 -19.8 2.5 Benign/Likely benign 0 -95255 Simple 200663107 T . Likely benign 2 6 FG syndrome;not specified;not provided;Cardiovascular phenotype 2017-09-01 -17.1 1.3333333333333333 Benign/Likely benign 1 -95256 Simple 398124200 CCAGCAGCAACACCAGCAGCAACA . Benign/Likely benign 2 5 FG syndrome;not specified 2017-08-03 -26.4 2.0 Benign 1 -95257 Simple 62609586 C . Benign/Likely benign 2 1 not specified 2014-01-14 . 4.0 . 0 -95261 Simple 607254 A . Benign 2 2 not specified 2015-12-02 -9.600000000000001 3.0 Benign/Likely benign 1 -95262 Simple 34189097 A . Benign/Likely benign 2 2 not specified 2017-04-27 -7.2 2.0 Likely benign 1 -95263 Simple 151157846 A . Benign 2 3 not specified 2014-04-04 -12.0 4.333333333333333 Benign/Likely benign 1 -95264 Simple 34654108 A . Benign 2 4 Rett syndrome, congenital variant;not specified 2017-08-01 -16.8 3.75 Benign/Likely benign 1 -95268 Simple 398124204 GG . Pathogenic 2 4 Rett syndrome, congenital variant;not provided 2017-10-25 22.2 1.5 Pathogenic 0 -95270 Simple 147580961 T . Benign/Likely benign 2 3 not specified;not provided;Holoprosencephaly 2017-05-04 -10.2 1.6666666666666667 Benign/Likely benign 0 -95271 Simple 3738880 T . Benign 2 2 not specified;Holoprosencephaly 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95272 Simple 12711538 A . Benign 2 3 not specified;Holoprosencephaly 2016-12-29 -16.2 2.0 Benign/Likely benign 1 -95273 Simple 10167980 G . Benign 2 3 not specified;Holoprosencephaly 2016-12-29 -16.2 2.0 Benign/Likely benign 1 -95274 Simple 114376238 T . Benign/Likely benign 2 4 Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome;Holoprosencephaly 2017-06-06 -16.2 1.5 Benign/Likely benign 0 -95277 Simple 730106 C . Benign/Likely benign 2 2 not specified 2015-12-02 -9.600000000000001 3.0 Benign/Likely benign 0 -95278 Simple 1051152 G . Benign/Likely benign 2 2 not specified 2016-03-31 -11.4 1.5 Benign/Likely benign 0 -95280 Simple 2071133 T . Benign/Likely benign 2 2 not specified 2016-03-16 -11.4 1.5 Benign/Likely benign 0 -95281 Simple 3027875 A . Benign/Likely benign 2 2 not specified 2015-12-17 -9.600000000000001 3.0 Benign/Likely benign 0 -95282 Simple 111302956 A . Benign/Likely benign 2 7 Inclusion body myopathy 2;Nonaka myopathy;Sialuria;not specified;Inclusion Body Myopathy, Recessive 2017-08-07 -32.4 1.0 Benign 1 -95284 Simple 117819825 T . Benign 2 3 Brugada syndrome 8;not specified 2017-08-07 -14.4 2.6666666666666665 Benign/Likely benign 1 -95285 Simple 529004 C . Benign 2 2 not specified 2016-01-26 -9.600000000000001 3.0 Benign/Likely benign 1 -95286 Simple 201193660 C . Benign 2 3 Brugada syndrome 8;not specified 2017-08-04 -15.0 2.3333333333333335 Benign/Likely benign 1 -95289 Simple 11231866 C . Benign/Likely benign 2 3 Glycogen storage disease, type V;not specified 2017-07-24 -13.8 1.3333333333333333 Benign/Likely benign 0 -95290 Simple 398124208 T . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type V 2014-09-04 6.6 3.5 Likely pathogenic 1 -95291 Simple 398124209 C . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type V;not provided 2017-04-18 7.2 2.0 Likely pathogenic 1 -95292 Simple 11231865 A . Benign/Likely benign 2 3 Glycogen storage disease, type V;not specified 2017-06-22 -13.2 1.6666666666666667 Benign/Likely benign 0 -95293 Simple 114138772 C . Benign 2 3 Glycogen storage disease, type V;not specified 2017-05-25 -15.6 2.0 Benign/Likely benign 1 -95294 Simple 532747 C . Benign 2 2 Glycogen storage disease, type V;not specified;not provided 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -95295 Simple 61736659 C . Uncertain significance 2 2 not specified 2017-04-26 -0.51 2.0 Uncertain significance 0 -95296 Simple 398124210 - . Pathogenic 2 3 Glycogen storage disease, type V;not provided 2017-06-15 16.8 1.3333333333333333 Pathogenic 0 -95297 Simple 139230055 T . Uncertain significance 2 2 not specified 2017-05-11 -0.48 2.5 Uncertain significance 0 -95298 Simple 77656150 A . Benign/Likely benign 2 2 not specified 2017-03-14 -6.6 2.5 Likely benign 1 -95300 Simple 75633423 C . Benign/Likely benign 2 3 Glycogen storage disease, type V;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -95302 Simple 201101913 T . Benign 2 2 not specified;not provided 2015-04-13 -9.600000000000001 3.0 Benign/Likely benign 1 -95306 Simple 2235482 C . Benign/Likely benign 2 2 Lafora disease;not specified 2017-04-29 -12.0 0.5 Benign/Likely benign 0 -95308 Simple 181088115 T . Uncertain significance 2 2 not specified 2016-07-01 -0.54 2.0 Uncertain significance 0 -95309 Simple 741932 T . Benign/Likely benign 2 2 Renpenning syndrome 1;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -95310 Simple 398124212 A . Benign/Likely benign 2 2 Renpenning syndrome 1;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -95311 Simple 9014 G . Benign/Likely benign 2 2 Mental retardation, X-linked, syndromic, Hedera type;not specified 2017-08-22 -10.2 2.0 Benign/Likely benign 0 -95313 Simple 10971019 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -95315 Simple 12348918 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -95316 Simple 2076697 C . Benign/Likely benign 2 3 Lethal tight skin contracture syndrome;Mandibuloacral dysplasia;not specified;not provided 2016-06-14 -16.2 2.0 Benign/Likely benign 0 -95319 Simple 2866413 A . Benign 2 3 Beta-D-mannosidosis;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -95320 Simple 2272697 G . Benign 2 3 Beta-D-mannosidosis;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -95323 Simple 71578980 A . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.0 2.25 Benign/Likely benign 0 -95325 Simple 71532874 A . Benign/Likely benign 2 9 not specified;not provided;Nonsyndromic Hearing Loss, Dominant;Monogenic diabetes 2017-09-26 -39.6 1.8888888888888888 Benign 1 -95329 Simple 149028760 A . Benign/Likely benign 2 5 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -16.2 1.6 Benign/Likely benign 0 -95330 Simple 3815344 C . Benign 2 5 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -28.2 1.6 Benign 0 -95331 Simple 76963591 T . Benign/Likely benign 2 5 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -16.2 1.6 Benign/Likely benign 0 -95333 Simple 34269395 GG . Benign/Likely benign 2 4 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -95334 Simple 6449209 G . Benign 2 5 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -28.2 1.6 Benign 0 -95336 Simple 35940413 G . Benign 2 4 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -18.0 3.5 Benign/Likely benign 1 -95337 Simple 16979162 T . Benign 2 4 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -18.0 3.5 Benign/Likely benign 1 -95338 Simple 61735811 T . Benign/Likely benign 2 4 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -15.6 3.25 Benign/Likely benign 0 -95339 Simple 184420466 T . Benign/Likely benign 2 3 not specified;not provided 2016-09-12 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -95340 Simple 34268261 A . Benign/Likely benign 2 4 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -15.6 3.25 Benign/Likely benign 0 -95342 Simple 149444205 C . Benign 2 2 not specified 2015-09-21 -9.600000000000001 3.0 Benign/Likely benign 1 -95343 Simple 17371795 G . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -95344 Simple 61735826 T . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -95345 Simple 150112560 A . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.51 2.5 Uncertain significance 0 -95346 Simple 1131978 A . Benign/Likely benign 2 3 Achromatopsia;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95347 Simple 12781149 T . Benign/Likely benign 2 3 Achromatopsia;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95349 Simple 473407 C . Benign/Likely benign 2 2 Phytanic acid storage disease;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -95352 Simple 446227 A . Benign/Likely benign 2 2 not specified;not provided;Retinitis Pigmentosa, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -95354 Simple 414352 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -95355 Simple 441800 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -95357 Simple 61739567 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -95359 Simple 79181168 T . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -95362 Simple 1063588 T . Benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -95363 Simple 2268416 A . Benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -95364 Simple 1264011 A . Benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -95365 Simple 2297104 G . Benign/Likely benign 2 6 Congenital muscular hypertrophy-cerebral syndrome;not specified;Cornelia de Lange Syndrome 2017-08-22 -28.2 2.1666666666666665 Benign 1 -95366 Simple 146216425 A . Benign/Likely benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -7.2 2.5 Likely benign 1 -95367 Simple 149219651 A . Benign/Likely benign 2 4 Congenital muscular hypertrophy-cerebral syndrome;not specified;Cornelia de Lange Syndrome 2017-08-16 -16.2 2.75 Benign/Likely benign 0 -95368 Simple 376129675 A . Uncertain significance 2 2 not specified 2017-07-07 -0.51 2.0 Uncertain significance 0 -95371 Simple 13027171 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -95372 Simple 35898499 T . Benign/Likely benign 2 2 not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -95374 Simple 2269970 G . Benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -95375 Simple 6654310 A . Benign/Likely benign 2 4 not specified 2016-02-21 -14.700000000000001 4.0 Benign/Likely benign 0 -95376 Simple 180727016 G . Benign 2 4 Christianson syndrome;not specified 2017-06-22 -19.2 2.75 Benign/Likely benign 1 -95379 Simple 6081189 G . Benign 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -95380 Simple 17807673 T . Benign/Likely benign 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -7.2 2.5 Likely benign 1 -95381 Simple 2273525 T . Benign 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95382 Simple 2273526 G . Benign/Likely benign 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -6.6 3.0 Likely benign 1 -95385 Simple 3736775 A . Benign 2 1 not specified 2013-11-18 . 4.0 . 0 -95386 Simple 7262532 T . Benign/Likely benign 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -6.6 3.0 Likely benign 1 -95387 Simple 77945587 T . Benign/Likely benign 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -95391 Simple 9450704 C . Benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -95394 Simple 56136150 C . Benign/Likely benign 2 5 Congenital disorder of glycosylation;Pontoneocerebellar hypoplasia;not specified 2016-06-14 -21.0 2.0 Benign/Likely benign 0 -95395 Simple 147617265 T . Uncertain significance 2 2 not specified;not provided 2014-03-19 -0.44999999999999996 3.5 Uncertain significance 0 -95396 Simple 138037471 G . Benign/Likely benign 2 4 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-08-16 -16.2 2.75 Benign/Likely benign 0 -95397 Simple 112141862 T . Benign 2 2 not specified 2013-07-03 -7.800000000000001 4.5 Likely benign 2 -95398 Simple 7987664 G . Benign/Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -95401 Simple 57326399 C . Benign 2 1 not specified 2016-09-23 . 1.0 . 0 -95403 Simple 78425180 T . Benign 2 2 Brugada syndrome;not specified 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -95404 Simple 6599242 G . Benign 2 1 not specified 2016-09-06 . 1.0 . 0 -95406 Simple 2229681 A . Benign 2 6 GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-08-14 -30.0 2.5 Benign 0 -95407 Simple 2228490 C . Benign 2 5 GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-08-14 -26.4 2.0 Benign 0 -95408 Simple 75485205 A . Benign/Likely benign 2 4 GLUT1 deficiency syndrome 1, autosomal recessive;not specified 2017-07-28 -17.4 2.25 Benign/Likely benign 0 -95411 Simple 11537641 A . Benign 2 7 GLUT1 deficiency syndrome 1;Dystonia;not specified;not provided;Glucose transporter type 1 deficiency syndrome 2017-04-14 -37.8 1.8571428571428572 Benign 0 -95412 Simple 144538918 A . Benign/Likely benign 2 5 GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-07-13 -20.4 2.0 Benign/Likely benign 0 -95413 Simple 1385129 A . Benign 2 5 GLUT1 deficiency syndrome 1;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-04-14 -27.6 1.6 Benign 0 -95414 Simple 2229682 T . Benign 2 5 GLUT1 deficiency syndrome 1;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-04-14 -27.6 1.6 Benign 0 -95415 Simple 147249343 A . Uncertain significance 2 2 not specified 2017-01-17 -0.51 2.5 Uncertain significance 0 -95416 Simple 13306757 G . Benign 2 5 GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-08-14 -25.2 2.4 Benign 0 -95418 Simple 2229680 A . Benign 2 6 GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-08-14 -30.0 2.5 Benign 0 -95423 Simple 61735841 A . Benign/Likely benign 2 2 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -95424 Simple 1047179 C . Benign 2 2 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95426 Simple 61729391 T . Benign 2 2 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -95427 Simple 2277820 T . Benign 2 2 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95430 Simple 1035972 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -95431 Simple 17121892 A . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -95437 Simple 192405601 C . Benign/Likely benign 2 3 Myotilinopathy;not specified 2017-06-06 -13.2 1.6666666666666667 Benign/Likely benign 0 -95439 Simple 114194130 A . Benign/Likely benign 2 2 not specified 2017-01-26 -6.6 3.0 Likely benign 1 -95440 Simple 71578935 C . Likely benign 2 4 Myotilinopathy;not specified 2017-03-30 -11.7 1.0 Benign/Likely benign 1 -95441 Simple 151094883 A . Benign/Likely benign 2 4 Spheroid body myopathy;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -95446 Simple 1831992 T . Benign 2 1 not specified 2013-07-08 . 4.0 . 0 -95448 Simple 398124241 ACCACC . Benign/Likely benign 2 1 not specified 2013-07-05 . 4.0 . 0 -95449 Simple 11091216 T . Benign 2 3 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -95451 Simple 59515295 A . Benign 2 2 not specified 2013-12-19 -7.800000000000001 4.5 Likely benign 2 -95452 Simple 200056620 T . Pathogenic 2 4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not provided 2017-12-13 22.2 1.5 Pathogenic 0 -95453 Simple 148086540 TT . Benign/Likely benign 2 4 Congenital muscular dystrophy;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -18.6 2.0 Benign/Likely benign 0 -95455 Simple 11243406 A . Benign/Likely benign 2 6 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -27.6 2.1666666666666665 Benign 1 -95460 Simple 4740165 T . Benign 2 3 not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -95463 Simple 147266709 T . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-07-17 -19.2 2.75 Benign/Likely benign 0 -95466 Simple 386738991 T . Benign/Likely benign 2 6 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-11 -28.2 2.0 Benign 1 -95467 Simple 2296949 A . Benign 2 3 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-08-09 -15.6 1.6666666666666667 Benign/Likely benign 1 -95468 Simple 398124247 T . Pathogenic 2 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;not provided 2017-03-27 10.2 2.0 Pathogenic/Likely pathogenic 1 -95470 Simple 76109289 A . Benign/Likely benign 2 5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -22.2 2.4 Benign/Likely benign 0 -95471 Simple 4740164 A . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-14 -17.4 2.25 Benign/Likely benign 0 -95474 Simple 675117 A . Benign 2 2 not specified;Polycystic liver disease 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -95477 Simple 3739205 - . Benign/Likely benign 2 5 Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy 2017-08-14 -21.0 2.8 Benign/Likely benign 0 -95478 Simple 200611702 T . Uncertain significance 2 6 Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy 2017-07-21 -1.74 1.0 Uncertain significance 0 -95482 Simple 115419706 A . Uncertain significance 2 3 Early infantile epileptic encephalopathy 12;not specified 2017-04-06 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -95483 Simple 3739185 T . Benign/Likely benign 2 6 Early infantile epileptic encephalopathy 12;not specified;not provided 2017-06-26 -24.6 2.0 Benign 1 -95485 Simple 138931842 C . Uncertain significance 2 3 Early infantile epileptic encephalopathy 12;not specified 2017-04-06 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -95486 Simple 3739168 A . Benign/Likely benign 2 5 Early infantile epileptic encephalopathy 12;not specified 2017-08-04 -21.0 2.8 Benign/Likely benign 0 -95491 Simple 201503405 A . Uncertain significance 2 4 Early infantile epileptic encephalopathy 10;not specified;Epileptic encephalopathy;Ataxia-oculomotor apraxia 4 2017-05-23 -1.14 1.25 Uncertain significance 0 -95495 Simple 1661300 A . Benign/Likely benign 2 5 Bardet-Biedl syndrome;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -19.8 2.4 Benign/Likely benign 0 -95500 Simple 62640904 T . Benign/Likely benign 2 4 Deficiency of malonyl-CoA decarboxylase;not specified 2017-03-07 -16.8 2.5 Benign/Likely benign 0 -95501 Simple 446036 C . Benign 2 2 not specified 2013-05-29 -7.800000000000001 4.5 Likely benign 2 -95502 Simple 2278036 T . Benign/Likely benign 2 2 Deficiency of malonyl-CoA decarboxylase;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -95503 Simple 2278037 T . Benign/Likely benign 2 3 Deficiency of malonyl-CoA decarboxylase;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -95505 Simple 77493891 C . Benign/Likely benign 2 3 Deficiency of malonyl-CoA decarboxylase;not specified 2016-09-26 -12.6 2.3333333333333335 Benign/Likely benign 0 -95507 Simple 17544885 C . Benign/Likely benign 2 3 not specified;Short Rib Polydactyly Syndrome 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -95508 Simple 7680152 T . Benign 2 2 not specified 2016-03-21 -10.2 2.5 Benign/Likely benign 1 -95509 Simple 34937835 A . Benign 2 2 not specified 2013-05-09 -7.800000000000001 4.5 Likely benign 2 -95511 Simple 146012909 C . Benign/Likely benign 2 2 not specified 2017-06-21 -7.2 2.0 Likely benign 1 -95512 Simple 117054456 T . Benign 2 3 not specified 2017-06-29 -15.0 2.3333333333333335 Benign/Likely benign 1 -95513 Simple 2960452 G . Benign 2 2 not specified 2016-06-10 -10.2 2.5 Benign/Likely benign 1 -95514 Simple 13438302 C . Benign 2 2 not specified 2016-06-10 -10.2 2.5 Benign/Likely benign 1 -95515 Simple 1139320 T . Benign/Likely benign 2 5 Joubert syndrome;Meckel-Gruber syndrome;Cutis laxa, recessive;not specified 2016-06-14 -21.0 2.0 Benign/Likely benign 0 -95516 Simple 74922060 A . Benign/Likely benign 2 5 ALG9 congenital disorder of glycosylation;Cutis laxa, recessive;not specified;not provided 2017-06-22 -24.0 1.8 Benign 1 -95517 Simple 79134187 G . Benign/Likely benign 2 5 ALG9 congenital disorder of glycosylation;Cutis laxa, recessive;not specified;not provided 2017-06-22 -24.0 1.8 Benign 1 -95520 Simple 7135542 C . Benign 2 3 Cutis laxa, recessive;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -95521 Simple 17883456 T . Benign/Likely benign 2 4 ALG9 congenital disorder of glycosylation;Cutis laxa, recessive;not specified 2017-05-11 -18.6 1.75 Benign/Likely benign 0 -95523 Simple 1139789 C . Benign 2 3 Cutis laxa, recessive;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -95524 Simple 11837144 T . Benign 2 3 Cutis laxa, recessive;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -95525 Simple 1399961 C . Benign 2 3 Cutis laxa, recessive;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -95529 Simple 199682486 A . Pathogenic 2 6 Congenital disorder of glycosylation type 1C;not provided 2017-10-09 33.6 1.3333333333333333 Pathogenic 0 -95531 Simple 4630153 T . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -95533 Simple 7153929 A . Benign 2 2 not specified 2014-01-28 -7.800000000000001 4.5 Likely benign 2 -95535 Simple 368817785 A . Pathogenic 2 2 not provided 2014-06-25 9.0 3.5 Pathogenic/Likely pathogenic 1 -95536 Simple 2270420 A . Benign/Likely benign 2 4 not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-26 -17.4 2.25 Benign/Likely benign 0 -95537 Simple 4540995 C . Benign/Likely benign 2 4 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-01 -17.4 2.25 Benign/Likely benign 0 -95541 Simple 151103906 G . Uncertain significance 2 3 not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-07 -0.87 1.0 Uncertain significance 0 -95542 Simple 368034790 C . Uncertain significance 2 2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -95543 Simple 398124264 A . Uncertain significance 2 2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2016-08-24 -0.51 2.5 Uncertain significance 0 -95545 Simple 142122657 A . Benign/Likely benign 2 4 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-08-02 -15.0 2.25 Benign/Likely benign 0 -95551 Simple 375734152 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.51 2.5 Uncertain significance 0 -95552 Simple 143898031 T . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -95554 Simple 139180845 A . Benign/Likely benign 2 5 Cortical dysplasia-focal epilepsy syndrome;not specified;not provided 2017-10-20 -18.0 1.6 Benign/Likely benign 0 -95555 Simple 143877693 G . Benign/Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-08-07 -16.2 1.25 Benign/Likely benign 0 -95556 Simple 34592169 A . Benign/Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-04-28 -21.6 1.75 Benign/Likely benign 0 -95557 Simple 2286128 A . Benign/Likely benign 2 5 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-08-16 -19.8 2.2 Benign/Likely benign 0 -95559 Simple 2286127 G . Benign/Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-04-14 -21.6 1.75 Benign/Likely benign 0 -95561 Simple 10240482 T . Benign/Likely benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95562 Simple 10240503 G . Benign/Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-04-28 -22.2 1.5 Benign/Likely benign 0 -95566 Simple 3779031 G . Benign/Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-04-28 -22.2 1.5 Benign/Likely benign 0 -95567 Simple 3779032 C . Benign 2 1 not specified 2013-12-12 . 4.0 . 0 -95568 Simple 189589051 T . Benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-08-14 -13.8 3.0 Benign/Likely benign 1 -95570 Simple 138477292 A . Benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-08-07 -13.2 3.3333333333333335 Benign/Likely benign 1 -95572 Simple 77025884 G . Benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-04-28 -19.8 2.5 Benign/Likely benign 1 -95573 Simple 9648691 A . Benign/Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-04-28 -22.2 1.5 Benign/Likely benign 0 -95574 Simple 138738227 A . Uncertain significance 2 6 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-08-08 -1.71 1.0 Uncertain significance 0 -95576 Simple 35167289 G . Benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -95578 Simple 150918383 C . Benign/Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-09-28 -18.0 1.75 Benign/Likely benign 0 -95584 Simple 35181923 C . Benign/Likely benign 2 3 Deficiency of isobutyryl-CoA dehydrogenase;not specified 2017-03-16 -13.2 1.6666666666666667 Benign/Likely benign 0 -95585 Simple 374317179 A . Pathogenic/Likely pathogenic 2 2 Deficiency of isobutyryl-CoA dehydrogenase;not provided 2017-03-07 9.0 0.5 Pathogenic/Likely pathogenic 0 -95594 Simple 2245216 C . Benign 2 2 Nephronophthisis;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -95596 Simple 147452898 C . Benign 2 2 Nephronophthisis;not specified 2017-02-24 -10.2 2.5 Benign/Likely benign 1 -95597 Simple 2787374 C . Benign 2 2 Nephronophthisis;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -95599 Simple 2491097 T . Benign 2 2 Nephronophthisis;not specified 2017-07-31 -10.2 2.0 Benign/Likely benign 1 -95604 Simple 75753538 C . Benign/Likely benign 2 2 Speech-language disorder 1;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -95608 Simple 398124272 - . Benign/Likely benign 2 2 Speech-language disorder 1;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -95609 Simple 111801240 G . Benign 2 2 Speech-language disorder 1;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95610 Simple 146945410 G . Benign/Likely benign 2 2 Speech-language disorder 1;not specified 2016-09-12 -9.0 1.0 Benign/Likely benign 0 -95611 Simple 61758964 G . Benign 2 2 Speech-language disorder 1;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -95613 Simple 111544687 GCAGCA . Benign/Likely benign 2 3 Speech-language disorder 1;not specified;not provided 2017-05-30 -13.2 1.6666666666666667 Benign/Likely benign 0 -95618 Simple 146673563 C . Benign/Likely benign 2 5 Mowat-Wilson syndrome;not specified 2016-06-14 -19.2 2.8 Benign/Likely benign 0 -95621 Simple 34890427 T . Benign 2 4 Mowat-Wilson syndrome;not specified 2017-06-27 -21.0 2.0 Benign/Likely benign 1 -95622 Simple 144952836 A . Benign/Likely benign 2 6 Mowat-Wilson syndrome;not specified;not provided 2017-10-23 -22.2 1.3333333333333333 Benign/Likely benign 0 -95625 Simple 144835963 C . Benign/Likely benign 2 2 not specified 2015-06-16 -7.5 2.5 Likely benign 1 -95627 Simple 112581563 A . Benign/Likely benign 2 6 Mowat-Wilson syndrome;not specified;not provided 2017-06-27 -26.4 2.6666666666666665 Benign 1 -95629 Simple 144154908 A . Benign/Likely benign 2 5 Mowat-Wilson syndrome;not specified 2017-03-10 -25.8 1.2 Benign 1 -95630 Simple 112005830 C . Benign/Likely benign 2 6 Mowat-Wilson syndrome;not specified;not provided 2017-06-30 -30.6 1.5 Benign 1 -95631 Simple 143438888 A . Benign/Likely benign 2 3 not specified;not provided 2017-03-20 -9.6 2.0 Benign/Likely benign 0 -95632 Simple 147972125 T . Benign 2 3 Mowat-Wilson syndrome;not specified 2017-07-31 -14.4 2.6666666666666665 Benign/Likely benign 1 -95633 Simple 143450927 A . Benign/Likely benign 2 7 Mowat-Wilson syndrome;not specified;not provided 2017-08-22 -31.5 2.857142857142857 Benign 1 -95636 Simple 149526010 A . Benign 2 3 Mowat-Wilson syndrome;not specified 2017-06-08 -14.4 2.6666666666666665 Benign/Likely benign 1 -95637 Simple 138859323 A . Benign/Likely benign 2 6 Mowat-Wilson syndrome;not specified 2017-08-01 -28.2 2.0 Benign 1 -95642 Simple 144925893 G . Benign 2 4 Mowat-Wilson syndrome;not specified;not provided 2017-06-08 -20.4 2.0 Benign/Likely benign 1 -95643 Simple 6711223 A . Benign/Likely benign 2 6 Mowat-Wilson syndrome;not specified;not provided 2017-08-11 -27.6 2.3333333333333335 Benign 1 -95647 Simple 139787271 C . Uncertain significance 2 3 Congenital disorder of glycosylation type 1M;not specified 2017-03-24 -0.78 1.6666666666666667 Uncertain significance 0 -95651 Simple 201342438 G . Uncertain significance 2 4 Seckel syndrome 5;not specified;Primary autosomal recessive microcephaly 9 2017-05-23 -1.05 2.0 Uncertain significance 0 -95652 Simple 115832709 G . Benign 2 2 not specified 2017-06-22 -10.2 2.0 Benign/Likely benign 1 -95653 Simple 2306187 G . Benign 2 5 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -24.0 3.0 Benign 0 -95655 Simple 2463730 G . Benign 2 2 not specified;Cone-Rod Dystrophy, Dominant 2016-09-19 -12.0 1.0 Benign/Likely benign 1 -95656 Simple 114505309 A . Benign 2 2 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95658 Simple 9411449 G . Benign/Likely benign 2 4 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-06-14 -22.2 1.75 Benign/Likely benign 0 -95659 Simple 882709 C . Benign 2 4 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-04-11 -21.6 1.75 Benign/Likely benign 1 -95660 Simple 3739922 C . Benign/Likely benign 2 5 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-04-11 -21.6 1.6 Benign/Likely benign 0 -95661 Simple 1185193 C . Benign/Likely benign 2 5 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-02-02 -28.2 1.6 Benign 1 -95662 Simple 1183768 T . Benign/Likely benign 2 6 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-02-02 -33.6 1.6666666666666667 Benign 1 -95663 Simple 543573 C . Benign/Likely benign 2 4 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-06-14 -22.2 1.75 Benign/Likely benign 0 -95664 Simple 2296872 A . Benign 2 1 not specified 2012-08-14 . 5.0 . 0 -95665 Simple 2296871 C . Benign/Likely benign 2 4 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-06-14 -21.6 2.0 Benign/Likely benign 0 -95666 Simple 3831154 AA . Benign 2 2 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -95667 Simple 2296869 G . Benign/Likely benign 2 4 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-06-14 -21.6 2.0 Benign/Likely benign 0 -95669 Simple 1056899 C . Benign/Likely benign 2 5 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-06-14 -27.0 2.0 Benign 1 -95671 Simple 7520105 C . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95672 Simple 114900019 A . Benign/Likely benign 2 4 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-08-08 -15.6 1.75 Benign/Likely benign 0 -95673 Simple 12120967 T . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95674 Simple 149244006 T . Benign 2 2 Nephronophthisis;not specified 2015-09-02 -9.0 3.5 Benign/Likely benign 1 -95675 Simple 17472401 A . Benign 2 2 Nephronophthisis;not specified 2017-02-07 -9.6 3.0 Benign/Likely benign 1 -95677 Simple 3747990 T . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95678 Simple 114545322 T . Benign/Likely benign 2 4 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-10-05 -16.2 1.75 Benign/Likely benign 0 -95679 Simple 3747992 A . Benign 2 4 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -95683 Simple 555164 C . Benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -95689 Simple 201380599 G . Likely benign 2 2 not specified 2017-02-17 -5.7 1.5 Likely benign 0 -95690 Simple 2302677 T . Benign/Likely benign 2 6 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-07-24 -23.4 1.8333333333333333 Benign/Likely benign 0 -95692 Simple 111775292 C . Benign/Likely benign 2 5 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2016-07-07 -19.2 1.6 Benign/Likely benign 0 -95693 Simple 139974543 C . Benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-08-11 -19.2 2.75 Benign/Likely benign 1 -95695 Simple 16970260 G . Benign 2 2 not specified 2015-12-22 -9.600000000000001 3.0 Benign/Likely benign 1 -95697 Simple 3931036 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 0 -95698 Simple 118183032 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -95699 Simple 3762171 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -95702 Simple 2275276 A . Benign 2 3 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -95703 Simple 370596113 T . Pathogenic 2 3 Methylmalonic acidemia with homocystinuria;not provided 2016-11-02 16.2 2.0 Pathogenic 0 -95707 Simple 398124296 - . Pathogenic 2 3 Methylmalonic acidemia with homocystinuria;not provided 2016-11-03 15.600000000000001 2.3333333333333335 Pathogenic 0 -95708 Simple 150807064 G . Benign/Likely benign 2 3 not specified;Optic Atrophy, Dominant 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -95709 Simple 149752576 C . Benign/Likely benign 2 4 not specified;Optic Atrophy, Dominant 2017-02-03 -18.0 2.25 Benign/Likely benign 0 -95711 Simple 78767626 C . Benign/Likely benign 2 4 not specified;Optic Atrophy, Dominant 2017-08-01 -18.0 2.0 Benign/Likely benign 0 -95713 Simple 398124299 T . Pathogenic 2 2 Dominant hereditary optic atrophy;not provided 2017-03-15 9.6 2.5 Pathogenic/Likely pathogenic 1 -95714 Simple 9831772 G . Benign 2 2 not specified 2016-02-05 -8.4 4.0 Benign/Likely benign 1 -95716 Simple 73069703 G . Benign/Likely benign 2 3 not specified;Optic Atrophy, Dominant 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -95717 Simple 9851685 C . Benign 2 4 Dominant hereditary optic atrophy;not specified;Optic Atrophy, Dominant 2017-04-28 -20.4 2.25 Benign/Likely benign 1 -95722 Simple 111688935 G . Benign/Likely benign 2 3 not specified;Optic Atrophy, Dominant 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -95723 Simple 35540805 T . Benign/Likely benign 2 3 not specified;Optic Atrophy, Dominant 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -95724 Simple 117888848 A . Benign/Likely benign 2 3 not specified;Optic Atrophy, Dominant 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -95725 Simple 35801538 T . Benign/Likely benign 2 3 not specified;Optic Atrophy, Dominant 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -95726 Simple 75414918 A . Benign/Likely benign 2 4 not specified;Optic Atrophy, Dominant 2017-02-03 -18.0 2.25 Benign/Likely benign 0 -95727 Simple 7624750 A . Benign 2 4 Dominant hereditary optic atrophy;not specified;Optic Atrophy, Dominant 2017-04-28 -20.4 2.25 Benign/Likely benign 1 -95728 Simple 3772393 C . Benign 2 2 not specified 2015-12-23 -8.4 4.0 Benign/Likely benign 1 -95729 Simple 34307082 T . Benign/Likely benign 2 5 not specified;Optic Atrophy, Dominant 2017-08-01 -23.4 2.0 Benign/Likely benign 0 -95731 Simple 166850 C . Benign 2 4 Dominant hereditary optic atrophy;not specified;Optic Atrophy, Dominant 2017-04-27 -19.8 2.5 Benign/Likely benign 1 -95733 Simple 398124303 G . Pathogenic 2 3 Dominant hereditary optic atrophy;not provided 2015-11-12 14.4 3.0 Pathogenic/Likely pathogenic 1 -95736 Simple 2280737 C . Benign 2 2 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -95737 Simple 1058065 A . Benign 2 1 not specified 2013-10-24 . 4.0 . 0 -95738 Simple 7602534 T . Benign 2 2 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -95744 Simple 992214 T . Benign 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95745 Simple 375100066 T . Uncertain significance 2 2 not specified;not provided 2017-03-31 -0.51 2.0 Uncertain significance 0 -95746 Simple 142710242 C . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -95747 Simple 571391 A . Benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95748 Simple 149896250 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -95752 Simple 3740912 T . Benign 2 2 not specified;Holoprosencephaly 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95753 Simple 35131477 G . Benign/Likely benign 2 3 Holoprosencephaly 11;not specified;Holoprosencephaly 2016-07-21 -13.2 2.0 Benign/Likely benign 0 -95754 Simple 398124308 AGTGAGTG . Pathogenic/Likely pathogenic 2 3 Mitochondrial complex I deficiency;not provided 2017-06-09 11.1 1.6666666666666667 Pathogenic/Likely pathogenic 0 -95756 Simple 117447608 A . Benign/Likely benign 2 3 Joubert syndrome;not specified;not provided 2017-04-05 -13.8 1.3333333333333333 Benign/Likely benign 0 -95757 Simple 6914831 T . Benign 2 2 Joubert syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -95758 Simple 150578902 G . Benign 2 1 not specified 2012-10-17 . 5.0 . 0 -95761 Simple 2292487 C . Benign/Likely benign 2 5 Muscle eye brain disease;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-14 -20.4 2.0 Benign/Likely benign 0 -95764 Simple 5917933 G . Benign/Likely benign 2 1 not specified 2014-03-19 . 3.0 . 0 -95765 Simple 17145653 A . Benign 2 4 Oculofaciocardiodental syndrome;not specified 2017-07-28 -20.400000000000002 2.25 Benign/Likely benign 1 -95766 Simple 6520618 C . Benign/Likely benign 2 1 not specified 2014-04-30 . 3.0 . 0 -95767 Simple 144606152 A . Benign 2 3 Oculofaciocardiodental syndrome;not specified 2017-07-26 -13.8 3.0 Benign/Likely benign 1 -95769 Simple 145327925 G . Benign/Likely benign 2 2 Oculofaciocardiodental syndrome;not specified 2016-10-30 -8.4 2.0 Benign/Likely benign 0 -95772 Simple 5963725 A . Benign/Likely benign 2 1 not specified 2014-05-06 . 3.0 . 0 -95773 Simple 41305525 G . Benign/Likely benign 2 9 CHARGE association;Hypogonadism with anosmia;not specified;not provided 2017-05-15 -38.7 1.5555555555555556 Benign 1 -95774 Simple 186394299 C . Benign/Likely benign 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-07-10 -19.2 1.4 Benign/Likely benign 0 -95776 Simple 377139749 GCAAAAGCAAAA . Benign/Likely benign 2 6 CHARGE association;Hypogonadism with anosmia;not specified;not provided 2017-08-08 -25.2 1.5 Benign 1 -95777 Simple 79302359 C . Benign/Likely benign 2 6 CHARGE association;Hypogonadism with anosmia;not specified 2017-08-07 -26.4 1.8333333333333333 Benign 1 -95782 Simple 41272435 A . Benign/Likely benign 2 6 CHARGE association;Hypogonadism with anosmia;not specified 2017-08-08 -27.0 1.6666666666666667 Benign 1 -95783 Simple 115293759 A . Benign/Likely benign 2 3 CHARGE association;not specified 2017-07-03 -16.2 1.6666666666666667 Benign/Likely benign 0 -95784 Simple 147994149 C . Benign 2 3 CHARGE association;not specified 2017-05-09 -17.4 1.0 Benign/Likely benign 1 -95786 Simple 41272440 C . Uncertain significance 2 4 CHARGE association;Hypogonadism with anosmia;not specified;not provided 2016-10-31 -1.1099999999999999 1.75 Uncertain significance 0 -95792 Simple 71640288 T . Benign/Likely benign 2 6 CHARGE association;Hypogonadism with anosmia;not specified 2017-07-20 -27.6 1.5 Benign 1 -95794 Simple 16926499 T . Benign/Likely benign 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-07-28 -19.2 2.4 Benign/Likely benign 0 -95795 Simple 398124321 A . Pathogenic 2 6 CHARGE association;not provided 2017-09-08 34.2 1.1666666666666667 Pathogenic 0 -95796 Simple 61746542 C . Benign/Likely benign 2 4 CHARGE association;Hypogonadism with anosmia;not specified 2017-02-10 -16.2 1.75 Benign/Likely benign 0 -95799 Simple 3763592 T . Benign 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-02-17 -27.0 2.0 Benign 0 -95800 Simple 41312170 T . Benign/Likely benign 2 6 CHARGE association;Hypogonadism with anosmia;not specified 2017-06-14 -27.6 1.5 Benign 1 -95802 Simple 2068096 A . Benign 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-02-17 -27.0 2.0 Benign 0 -95803 Simple 41312172 G . Benign/Likely benign 2 6 CHARGE association;Hypogonadism with anosmia;not specified 2017-05-03 -26.4 1.6666666666666667 Benign 1 -95804 Simple 376020564 T . Uncertain significance 2 4 CHARGE association;Hypogonadism with anosmia;not specified;not provided 2016-10-31 -1.1099999999999999 1.75 Uncertain significance 0 -95806 Simple 34527521 G . Benign/Likely benign 2 2 CHARGE association;not specified 2017-08-11 -8.7 1.0 Benign/Likely benign 0 -95808 Simple 61729627 A . Benign/Likely benign 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-08-04 -19.8 2.2 Benign/Likely benign 0 -95810 Simple 187311127 A . Benign/Likely benign 2 4 CHARGE association;Hypogonadism with anosmia;not specified 2016-06-14 -15.6 2.0 Benign/Likely benign 0 -95811 Simple 2272727 G . Benign/Likely benign 2 7 CHARGE association;Hypogonadism with anosmia;not specified 2017-08-11 -32.4 1.5714285714285714 Benign 1 -95814 Simple 45521933 G . Benign/Likely benign 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-01-19 -15.0 2.2 Benign/Likely benign 0 -95816 Simple 184814820 T . Benign/Likely benign 2 7 CHARGE association;Hypogonadism with anosmia;not specified;not provided 2017-03-31 -33.6 1.4285714285714286 Benign 1 -95817 Simple 8011292 T . Benign/Likely benign 2 2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -95818 Simple 2287015 C . Benign 2 2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95819 Simple 2287016 A . Benign 2 2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95820 Simple 2287017 G . Benign 2 2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95821 Simple 6468694 A . Benign/Likely benign 2 3 Cohen syndrome;not specified 2017-05-16 -13.2 1.6666666666666667 Benign/Likely benign 0 -95823 Simple 398124326 G . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -95825 Simple 61754107 C . Uncertain significance 2 2 not specified 2015-02-10 -0.44999999999999996 3.5 Uncertain significance 0 -95831 Simple 143024324 T . Uncertain significance 2 2 not specified 2016-06-24 -0.54 2.0 Uncertain significance 0 -95832 Simple 150783688 T . Uncertain significance 2 4 Cohen syndrome;not specified;not provided 2016-10-31 -1.08 2.0 Uncertain significance 0 -95834 Simple 141046414 A . Uncertain significance 2 7 Cohen syndrome;not specified;not provided;Inborn genetic diseases 2017-06-12 -2.01 1.0 Uncertain significance 0 -95835 Simple 61754109 A . Uncertain significance 2 4 Cohen syndrome;not specified 2017-05-23 -1.1400000000000001 1.25 Uncertain significance 0 -95836 Simple 398124329 G . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -95838 Simple 140848350 C . Benign/Likely benign 2 6 Cohen syndrome;not specified;not provided 2017-06-10 -30.0 1.6666666666666667 Benign 1 -95839 Simple 61753721 A . Benign/Likely benign 2 3 Cohen syndrome;not specified;not provided 2017-07-25 -13.2 1.6666666666666667 Benign/Likely benign 0 -95844 Simple 61753722 T . Benign/Likely benign 2 5 Cohen syndrome;not specified;not provided 2017-07-24 -20.1 2.2 Benign/Likely benign 0 -95846 Simple 140353201 T . Pathogenic 2 2 Cohen syndrome;not provided 2015-09-17 9.0 3.5 Pathogenic/Likely pathogenic 1 -95848 Simple 35543295 T . Benign/Likely benign 2 3 Cohen syndrome;not specified 2017-08-11 -12.6 2.0 Benign/Likely benign 0 -95852 Simple 149796549 C . Benign/Likely benign 2 4 Cohen syndrome;not specified 2017-08-02 -18.6 1.75 Benign/Likely benign 0 -95854 Simple 371961155 G . Uncertain significance 2 3 Cohen syndrome;not specified 2016-06-14 -0.78 2.3333333333333335 Uncertain significance 0 -95857 Simple 144257406 T . Benign/Likely benign 2 4 Cohen syndrome;not specified;not provided 2017-06-13 -18.6 1.75 Benign/Likely benign 0 -95858 Simple 139640224 G . Benign/Likely benign 2 2 not specified 2015-11-19 -6.300000000000001 3.5 Likely benign 1 -95861 Simple 398124337 TT . Benign/Likely benign 2 2 Cohen syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -95862 Simple 369932118 C . Uncertain significance 2 2 not specified 2016-07-28 -0.51 2.5 Uncertain significance 0 -95863 Simple 61753724 G . Benign/Likely benign 2 3 Cohen syndrome;not specified 2017-08-11 -12.6 2.0 Benign/Likely benign 0 -95864 Simple 61753725 A . Benign/Likely benign 2 3 Cohen syndrome;not specified 2017-07-25 -12.6 1.6666666666666667 Benign/Likely benign 0 -95866 Simple 7833870 C . Benign/Likely benign 2 2 Cohen syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -95867 Simple 111751379 A . Benign/Likely benign 2 5 Cohen syndrome;not specified;not provided 2017-06-05 -18.6 1.4 Benign/Likely benign 0 -95868 Simple 140179844 A . Uncertain significance 2 2 not specified 2016-09-26 -0.51 2.5 Uncertain significance 0 -95870 Simple 398124338 A . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.48 3.0 Uncertain significance 0 -95872 Simple 145890213 T . Uncertain significance 2 4 Cohen syndrome;not specified;not provided 2017-05-23 -0.99 2.5 Uncertain significance 0 -95873 Simple 140095832 T . Uncertain significance 2 2 not specified 2014-05-23 -0.44999999999999996 3.5 Uncertain significance 0 -95875 Simple 36074608 C . Benign/Likely benign 2 4 Cohen syndrome;not specified 2017-05-17 -23.4 1.0 Benign/Likely benign 0 -95876 Simple 149842139 T . Benign/Likely benign 2 4 Cohen syndrome;not specified 2017-07-18 -12.9 1.5 Benign/Likely benign 0 -95877 Simple 12484657 G . Benign 2 1 not specified 2013-11-12 . 4.0 . 0 -95880 Simple 61740509 A . Benign/Likely benign 2 5 Glycogen storage disease, type II;Primary ciliary dyskinesia;not specified 2017-08-12 -21.0 1.8 Benign/Likely benign 0 -95881 Simple 10999338 A . Benign 2 4 Heterotaxy syndrome;not specified;Holoprosencephaly 2016-06-14 -24.0 1.0 Benign 0 -95882 Simple 1904589 C . Benign 2 5 Heterotaxy syndrome;not specified;Holoprosencephaly 2016-06-14 -28.2 1.6 Benign 0 -95887 Simple 4915344 G . Benign/Likely benign 2 2 not specified 2014-02-19 -8.4 4.0 Benign/Likely benign 0 -95888 Simple 1571964 A . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -13.200000000000001 2.6666666666666665 Benign/Likely benign 0 -95890 Simple 6677082 A . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2017-08-02 -16.8 1.3333333333333333 Benign/Likely benign 0 -95891 Simple 2985686 G . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -95892 Simple 2985687 C . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -95893 Simple 2985684 G . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -95894 Simple 2985685 A . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -95895 Simple 932974 G . Benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95896 Simple 932975 A . Benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -95903 Simple 3808976 G . Benign/Likely benign 2 4 Congenital disorder of glycosylation;not specified 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -95905 Simple 7130656 G . Benign/Likely benign 2 4 Congenital disorder of glycosylation;not specified 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -95907 Simple 4904448 A . Benign/Likely benign 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95908 Simple 151338404 T . Uncertain significance 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -95909 Simple 75985315 T . Benign/Likely benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -95910 Simple 117344829 T . Benign 2 3 not specified;not provided 2015-08-26 -15.0 2.6666666666666665 Benign/Likely benign 1 -95911 Simple 1026128 G . Benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -95912 Simple 62621249 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -95913 Simple 1551036 T . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -95914 Simple 1037256 A . Benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -95917 Simple 1052706 A . Benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -95919 Simple 11544800 G . Benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -95921 Simple 142327258 T . Uncertain significance 2 2 not specified;not provided 2017-05-01 -0.51 2.0 Uncertain significance 0 -95922 Simple 1547 A . Benign/Likely benign 2 3 Bardet-Biedl syndrome;McKusick Kaufman syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95923 Simple 1545 A . Benign/Likely benign 2 3 Bardet-Biedl syndrome;McKusick Kaufman syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95924 Simple 150047904 G . Benign/Likely benign 2 4 Neuronal ceroid lipofuscinosis;not specified;not provided 2017-08-09 -20.4 2.25 Benign/Likely benign 0 -95927 Simple 144247281 C . Benign/Likely benign 2 2 not specified 2016-05-19 -8.4 1.5 Benign/Likely benign 0 -95929 Simple 4961206 G . Benign 2 3 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -95931 Simple 398124348 T . Pathogenic/Likely pathogenic 2 2 not provided;Inborn genetic diseases 2014-02-06 6.300000000000001 4.0 Likely pathogenic 1 -95932 Simple 1047732 T . Benign 2 2 not specified 2015-12-04 -10.8 2.0 Benign/Likely benign 1 -95934 Simple 374928784 A . Pathogenic 2 2 not provided 2016-04-20 10.2 2.5 Pathogenic/Likely pathogenic 1 -95936 Simple 62036244 T . Benign 2 2 not specified 2015-12-17 -10.8 2.0 Benign/Likely benign 1 -95937 Simple 12921879 C . Benign 2 3 Congenital disorder of glycosylation type 1K;not specified 2017-06-22 -17.4 1.0 Benign/Likely benign 1 -95941 Simple 2270968 G . Benign 2 2 not specified;3-MCC Deficiency 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -95943 Simple 7622479 A . Benign 2 2 not specified;3-MCC Deficiency 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -95945 Simple 77068026 C . Benign/Likely benign 2 2 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -95946 Simple 72887005 C . Benign/Likely benign 2 2 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 0 -95947 Simple 11556200 A . Benign/Likely benign 2 2 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -95955 Simple 398124359 C . Uncertain significance 2 3 Eichsfeld type congenital muscular dystrophy;not specified 2017-07-11 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -95956 Simple 760597 C . Benign 2 5 not specified;SEPN1-Related Disorders 2016-06-14 -25.2 2.6 Benign 0 -95958 Simple 377215510 T . Pathogenic 2 2 Eichsfeld type congenital muscular dystrophy;not provided 2017-07-11 9.6 2.5 Pathogenic/Likely pathogenic 1 -95959 Simple 2294228 A . Benign 2 5 not specified;SEPN1-Related Disorders 2016-06-14 -25.2 2.6 Benign 0 -95961 Simple 200128474 A . Uncertain significance 2 3 Eichsfeld type congenital muscular dystrophy;not specified 2017-05-16 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -95963 Simple 7349185 A . Benign 2 5 not specified;SEPN1-Related Disorders 2016-06-14 -26.4 2.2 Benign 0 -95964 Simple 187960531 T . Benign 2 2 Eichsfeld type congenital muscular dystrophy;not specified 2017-08-09 -9.6 2.5 Benign/Likely benign 1 -95966 Simple 115852080 A . Benign/Likely benign 2 4 Eichsfeld type congenital muscular dystrophy;not specified 2017-07-27 -18.6 1.5 Benign/Likely benign 0 -95967 Simple 147587542 T . Benign/Likely benign 2 4 Eichsfeld type congenital muscular dystrophy;not specified;SEPN1-Related Disorders 2017-08-07 -18.0 2.0 Benign/Likely benign 0 -95971 Simple 143151534 TCCTCC . Benign 2 3 not specified 2014-12-29 -12.6 4.0 Benign/Likely benign 1 -95972 Simple 6614552 C . Benign 2 2 not specified 2015-09-25 -9.600000000000001 3.0 Benign/Likely benign 1 -95974 Simple 28362302 A . Benign 2 3 not specified;not provided 2015-04-13 -13.8 3.3333333333333335 Benign/Likely benign 1 -95980 Simple 3747333 A . Benign/Likely benign 2 2 not specified 2016-08-16 -10.2 2.5 Benign/Likely benign 0 -95981 Simple 3747334 C . Benign/Likely benign 2 2 not specified 2016-08-09 -10.2 2.5 Benign/Likely benign 0 -95984 Simple 398124365 T . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.48 3.0 Uncertain significance 0 -95990 Simple 9548882 C . Benign 2 2 not specified 2015-12-02 -9.600000000000001 3.0 Benign/Likely benign 1 -95991 Simple 66629036 - . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -95992 Simple 78336861 T . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2017-03-22 -10.2 1.6666666666666667 Benign/Likely benign 0 -95995 Simple 1800860 G . Benign 2 7 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-07-10 -40.8 1.1428571428571428 Benign 0 -95996 Simple 2435351 A . Benign/Likely benign 2 5 Pheochromocytoma;Renal adysplasia;not specified;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2016-06-14 -16.2 1.6 Benign/Likely benign 0 -95997 Simple 1800859 A . Benign/Likely benign 2 8 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-08-09 -31.8 1.75 Benign 1 -95998 Simple 398124368 - . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -95999 Simple 56064803 - . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-03 -10.2 2.0 Benign/Likely benign 1 -96001 Simple 9924241 T . Benign 2 2 Idiopathic generalized epilepsy;not specified;Hyperaldosteronism, familial, type IV 2017-08-11 -10.2 2.0 Benign/Likely benign 1 -96003 Simple 9934839 G . Benign 2 2 not specified 2016-04-29 -10.2 2.5 Benign/Likely benign 1 -96007 Simple 61073355 T . Benign 2 3 Idiopathic generalized epilepsy;not specified;Hyperaldosteronism, familial, type IV 2017-06-21 -16.2 1.3333333333333333 Benign/Likely benign 1 -96013 Simple 59286323 T . Benign/Likely benign 2 4 Idiopathic generalized epilepsy;not specified;not provided;Hyperaldosteronism, familial, type IV 2017-06-22 -16.2 1.25 Benign/Likely benign 0 -96014 Simple 3751889 C . Benign 2 2 not specified 2017-06-26 -10.2 2.0 Benign/Likely benign 1 -96017 Simple 59844753 T . Benign 2 3 Idiopathic generalized epilepsy;not specified;Hyperaldosteronism, familial, type IV 2017-08-11 -16.2 1.3333333333333333 Benign/Likely benign 1 -96020 Simple 11797456 A . Benign 2 3 not specified;not provided 2016-11-28 -16.2 2.0 Benign/Likely benign 1 -96021 Simple 200276538 A . Uncertain significance 2 3 Amish lethal microcephaly;not specified 2017-06-09 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -96022 Simple 2234968 A . Benign 2 4 Primary open angle glaucoma;not specified;Amyotrophic Lateral Sclerosis, Recessive 2017-07-21 -22.2 1.5 Benign/Likely benign 1 -96023 Simple 11591687 A . Benign/Likely benign 2 3 Primary open angle glaucoma;not specified;Amyotrophic Lateral Sclerosis, Recessive 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -96029 Simple 10064079 G . Benign 2 2 not specified;3-MCC Deficiency 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -96030 Simple 35068278 G . Uncertain significance 2 3 3-methylcrotonyl CoA carboxylase 2 deficiency;not specified 2017-05-15 -0.84 1.3333333333333333 Uncertain significance 0 -96032 Simple 277984 G . Benign 2 2 not specified;3-MCC Deficiency 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -96035 Simple 1363405 T . Benign 2 4 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -96036 Simple 114747882 C . Benign 2 3 Beckwith-Wiedemann syndrome;not specified 2017-07-28 -13.8 3.0 Benign/Likely benign 1 -96038 Simple 3733874 A . Benign 2 4 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -96040 Simple 28932176 C . Benign/Likely benign 2 5 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-07-31 -19.8 2.2 Benign/Likely benign 0 -96042 Simple 3733875 T . Benign 2 4 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -96043 Simple 28932178 C . Benign 2 4 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -96046 Simple 142023792 C . Uncertain significance 2 2 Sotos syndrome 1;not specified 2013-04-04 -0.39 4.5 Uncertain significance 0 -96053 Simple 193290006 G . Benign 2 2 not specified 2013-10-16 -7.800000000000001 4.5 Likely benign 2 -96057 Simple 28932181 C . Benign 2 4 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -96059 Simple 200890017 - . Benign/Likely benign 2 4 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -96062 Simple 398124379 - . Pathogenic 2 2 Sotos syndrome 1 2013-06-11 7.800000000000001 4.5 Likely pathogenic 2 -96064 Simple 61749654 G . Benign/Likely benign 2 5 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-07-12 -20.1 1.2 Benign/Likely benign 0 -96066 Simple 146601031 C . Benign/Likely benign 2 3 Beckwith-Wiedemann syndrome;not specified 2017-07-28 -9.3 2.3333333333333335 Benign/Likely benign 0 -96070 Simple 35848863 A . Benign 2 5 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-08-01 -25.8 2.2 Benign 0 -96071 Simple 34165241 C . Benign 2 5 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-08-01 -25.8 2.2 Benign 0 -96073 Simple 28580074 C . Benign/Likely benign 2 3 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 0 -96074 Simple 11740250 C . Benign 2 4 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -96077 Simple 373932824 T . Uncertain significance 2 3 Beckwith-Wiedemann syndrome;Sotos syndrome 1;not specified 2017-05-23 -0.75 2.3333333333333335 Uncertain significance 0 -96079 Simple 78247455 A . Benign/Likely benign 2 5 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-08-01 -19.8 2.2 Benign/Likely benign 0 -96082 Simple 77618751 C . Benign/Likely benign 2 5 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-01-20 -16.8 2.4 Benign/Likely benign 0 -96084 Simple 398124389 T . Uncertain significance 2 2 not specified 2016-12-30 -0.51 2.5 Uncertain significance 0 -96085 Simple 3088052 C . Benign/Likely benign 2 4 Marinesco-Sjögren syndrome;not specified 2017-04-14 -21.6 1.75 Benign/Likely benign 0 -96088 Simple 1263505 C . Benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -96092 Simple 665278 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -96095 Simple 3922872 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -96096 Simple 11705497 T . Benign 2 1 not specified 2012-10-16 . 5.0 . 0 -96097 Simple 144665682 A . Benign 2 3 ALG12-congenital disorder of glycosylation;not specified;not provided 2017-01-11 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -96098 Simple 9616204 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -96099 Simple 9616368 G . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -96102 Simple 8135963 C . Benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -96104 Simple 3201779 T . Benign 2 2 not specified 2013-12-21 -7.800000000000001 4.5 Likely benign 2 -96105 Simple 2287717 T . Benign/Likely benign 2 5 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;not specified 2017-08-01 -25.2 2.2 Benign 1 -96106 Simple 115365212 T . Benign/Likely benign 2 4 not specified;Walker-Warburg congenital muscular dystrophy 2017-09-14 -15.6 1.75 Benign/Likely benign 0 -96107 Simple 149030303 T . Benign 2 5 not specified;Walker-Warburg congenital muscular dystrophy 2017-08-07 -24.0 2.8 Benign 0 -96110 Simple 200990647 T . Benign/Likely benign 2 4 not specified;Walker-Warburg congenital muscular dystrophy 2017-07-28 -20.4 0.75 Benign/Likely benign 0 -96112 Simple 75079578 T . Benign 2 5 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;not specified;Walker-Warburg congenital muscular dystrophy 2017-07-28 -26.400000000000002 1.8 Benign 0 -96118 Simple 4764655 T . Benign/Likely benign 2 3 not specified;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -96119 Simple 10778148 C . Benign 2 3 not specified;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -96121 Simple 759935 G . Benign 2 3 not specified;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -96122 Simple 79493678 T . Benign/Likely benign 2 4 not specified;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -96125 Simple 398124401 A . Pathogenic 2 2 Congenital disorder of glycosylation type 1Q;not provided 2017-08-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -96126 Simple 2515569 G . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2017-08-02 -16.8 1.3333333333333333 Benign/Likely benign 0 -96127 Simple 142858644 C . Benign/Likely benign 2 3 not specified 2016-02-12 -9.0 3.3333333333333335 Benign/Likely benign 0 -96128 Simple 2920676 T . Benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -96131 Simple 10896125 C . Benign 2 3 Bardet-Biedl syndrome;not specified 2017-06-02 -16.2 1.6666666666666667 Benign/Likely benign 1 -96132 Simple 56177555 T . Benign/Likely benign 2 2 not specified 2016-06-27 -7.2 2.5 Likely benign 1 -96133 Simple 72994380 C . Benign 2 2 not specified 2016-02-12 -9.0 3.5 Benign/Likely benign 1 -96134 Simple 45574638 A . Benign 2 3 ALG9 congenital disorder of glycosylation;not specified 2017-03-13 -15.600000000000001 2.0 Benign/Likely benign 1 -96136 Simple 17113312 A . Benign/Likely benign 2 3 not specified;not provided 2016-04-06 -12.3 2.6666666666666665 Benign/Likely benign 0 -96137 Simple 2163649 A . Benign/Likely benign 2 5 Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified 2017-08-10 -22.2 1.4 Benign/Likely benign 0 -96138 Simple 80225158 G . Benign/Likely benign 2 5 Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified 2017-08-10 -22.2 1.4 Benign/Likely benign 0 -96139 Simple 79514677 G . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -96140 Simple 76684726 T . Benign/Likely benign 2 3 Chromosome 9q deletion syndrome;not specified 2017-08-14 -17.4 1.0 Benign/Likely benign 0 -96142 Simple 3125794 T . Benign 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -96144 Simple 144513373 T . Benign 2 2 Chromosome 9q deletion syndrome;not specified 2017-07-27 -9.6 2.5 Benign/Likely benign 1 -96145 Simple 7868455 T . Benign/Likely benign 2 3 Chromosome 9q deletion syndrome;not specified 2017-08-03 -16.2 1.6666666666666667 Benign/Likely benign 0 -96151 Simple 35943616 T . Benign/Likely benign 2 3 Chromosome 9q deletion syndrome;not specified 2017-08-10 -16.8 1.3333333333333333 Benign/Likely benign 0 -96152 Simple 33999936 A . Benign/Likely benign 2 3 Chromosome 9q deletion syndrome;not specified 2017-06-23 -12.3 2.3333333333333335 Benign/Likely benign 0 -96153 Simple 113676865 T . Benign/Likely benign 2 3 Chromosome 9q deletion syndrome;not specified 2017-06-14 -13.2 1.6666666666666667 Benign/Likely benign 0 -96154 Simple 112664025 - . Benign 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96155 Simple 73578877 C . Benign/Likely benign 2 3 Chromosome 9q deletion syndrome;not specified 2017-08-14 -15.6 2.0 Benign/Likely benign 0 -96157 Simple 10667884 TCTC . Benign 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -96158 Simple 142271310 G . Benign 2 2 Chromosome 9q deletion syndrome;not specified 2017-07-28 -10.2 2.0 Benign/Likely benign 1 -96160 Simple 141797498 T . Benign/Likely benign 2 4 Chromosome 9q deletion syndrome;not specified 2017-07-20 -18.6 1.75 Benign/Likely benign 0 -96161 Simple 398124408 C . Uncertain significance 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -96162 Simple 139461232 T . Benign/Likely benign 2 4 Chromosome 9q deletion syndrome;not specified 2017-08-14 -15.9 1.75 Benign/Likely benign 0 -96166 Simple 35285441 T . Uncertain significance 2 2 Chromosome 9q deletion syndrome;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -96168 Simple 45465996 G . Benign/Likely benign 2 7 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified;not provided 2016-06-14 -23.4 1.8571428571428572 Benign/Likely benign 0 -96170 Simple 10717563 - . Benign 2 7 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified 2017-01-23 -40.2 1.4285714285714286 Benign 0 -96175 Simple 33955793 A . Benign 2 4 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -18.0 3.5 Benign/Likely benign 1 -96176 Simple 142316059 T . Benign 2 1 not specified 2013-10-07 . 4.0 . 0 -96177 Simple 113208290 T . Benign 2 3 not specified 2015-12-22 -15.0 2.6666666666666665 Benign/Likely benign 1 -96179 Simple 8067439 A . Benign/Likely benign 2 2 Smith-Magenis syndrome;not specified 2017-05-05 -10.8 1.5 Benign/Likely benign 0 -96183 Simple 3803763 C . Benign/Likely benign 2 2 Smith-Magenis syndrome;not specified 2017-05-05 -10.2 2.0 Benign/Likely benign 0 -96190 Simple 4925112 C . Benign/Likely benign 2 2 Smith-Magenis syndrome;not specified 2017-05-05 -10.8 1.5 Benign/Likely benign 0 -96192 Simple 35686634 T . Benign/Likely benign 2 2 Smith-Magenis syndrome;not specified 2017-05-03 -10.8 1.5 Benign/Likely benign 0 -96194 Simple 11649804 A . Benign/Likely benign 2 2 Smith-Magenis syndrome;not specified 2017-05-03 -10.2 2.0 Benign/Likely benign 0 -96195 Simple 3818717 C . Benign/Likely benign 2 2 Smith-Magenis syndrome;not specified 2017-05-03 -10.8 1.5 Benign/Likely benign 0 -96196 Simple 150563155 T . Benign/Likely benign 2 3 not specified;not provided 2017-06-16 -12.6 2.3333333333333335 Benign/Likely benign 0 -96198 Simple 11078398 A . Benign 2 2 not specified 2014-03-18 -9.0 3.5 Benign/Likely benign 1 -96199 Simple 398124421 A . Benign 2 2 not specified 2013-06-06 -8.4 4.0 Benign/Likely benign 1 -96202 Simple 77580616 G . Benign/Likely benign 2 2 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -96206 Simple 35294865 G . Benign/Likely benign 2 3 Bardet-Biedl syndrome;not specified 2017-06-07 -13.2 1.6666666666666667 Benign/Likely benign 0 -96207 Simple 41317471 G . Benign/Likely benign 2 2 not specified;not provided;Macular degeneration 2016-06-14 -7.2 2.5 Likely benign 1 -96208 Simple 10798035 G . Benign/Likely benign 2 2 not specified;Macular degeneration 2016-06-14 -7.2 2.5 Likely benign 1 -96210 Simple 74967568 A . Benign/Likely benign 2 2 not specified;Macular degeneration 2016-06-14 -7.2 2.5 Likely benign 1 -96216 Simple 139266382 C . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.51 2.5 Uncertain significance 0 -96217 Simple 4672457 G . Benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96220 Simple 11542583 C . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -96221 Simple 142596708 C . Benign 2 3 Borjeson-Forssman-Lehmann syndrome;not specified 2017-07-11 -15.0 2.3333333333333335 Benign/Likely benign 1 -96223 Simple 3810817 C . Benign 2 2 Nephronophthisis;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96224 Simple 669561 C . Benign 2 2 Nephronophthisis;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96228 Simple 7638391 T . Benign 2 2 not specified 2015-07-16 -10.2 2.5 Benign/Likely benign 1 -96229 Simple 76076446 A . Benign/Likely benign 2 3 not specified;Macular degeneration;Cone-Rod Dystrophy, Dominant 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -96230 Simple 79588413 A . Benign 2 3 not specified;Macular degeneration;Cone-Rod Dystrophy, Dominant 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96235 Simple 140736502 T . Uncertain significance 2 2 not specified 2016-11-11 -0.5700000000000001 1.5 Uncertain significance 0 -96236 Simple 35626507 G . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -96237 Simple 11545137 G . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -96239 Simple 374523166 C . Uncertain significance 2 3 Long QT syndrome;not specified 2017-03-24 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -96241 Simple 11797 T . Benign 2 5 Vasculopathy, retinal, with cerebral leukodystrophy;Aicardi Goutieres syndrome;not specified 2016-06-14 -28.8 1.4 Benign 0 -96243 Simple 62000414 G . Benign/Likely benign 2 6 Methylmalonic aciduria cblB type;Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever;Methylmalonic acidemia;not specified 2016-12-26 -25.2 1.5 Benign 1 -96245 Simple 9593 T . Benign 2 4 Methylmalonic acidemia;not specified 2016-08-16 -22.2 1.75 Benign/Likely benign 1 -96246 Simple 11242 C . Benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -96249 Simple 2071313 A . Benign/Likely benign 2 6 Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome;Hyperparathyroidism;Multiple endocrine neoplasia 2017-07-10 -28.8 1.1666666666666667 Benign 1 -96252 Simple 61736636 A . Benign/Likely benign 2 6 Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome;Hyperparathyroidism;Multiple endocrine neoplasia 2017-08-20 -28.2 1.3333333333333333 Benign 1 -96254 Simple 398124437 T . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2016-04-04 15.0 2.6666666666666665 Pathogenic 0 -96255 Simple 114348597 T . Benign 2 2 not specified 2014-07-14 -8.4 4.0 Benign/Likely benign 1 -96258 Simple 34670662 C . Benign 2 3 Angelman syndrome;not specified 2017-08-03 -13.8 3.0 Benign/Likely benign 1 -96262 Simple 76794400 C . Benign 2 6 Angelman syndrome;not specified;not provided 2017-08-03 -28.8 2.6666666666666665 Benign 0 -96265 Simple 147145506 T . Benign/Likely benign 2 4 Angelman syndrome;not specified 2017-08-14 -19.8 2.5 Benign/Likely benign 0 -96278 Simple 56046320 T . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -22.200000000000003 1.5 Benign/Likely benign 1 -96279 Simple 192002980 C . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-21 -22.2 1.25 Benign/Likely benign 1 -96282 Simple 398124448 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-23 -0.51 2.0 Uncertain significance 0 -96284 Simple 369594816 C . Uncertain significance 2 2 not specified 2013-05-03 -0.42 4.0 Uncertain significance 0 -96286 Simple 398124451 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-20 -0.51 2.0 Uncertain significance 0 -96287 Simple 373881831 T . Uncertain significance 2 2 not specified 2013-03-12 -0.39 4.5 Uncertain significance 0 -96289 Simple 74580375 C . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-25 -27.0 1.6 Benign 0 -96292 Simple 368988689 G . Uncertain significance 2 2 not specified 2013-05-03 -0.42 4.0 Uncertain significance 0 -96293 Simple 398124453 . . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -0.51 2.0 Uncertain significance 0 -96294 Simple 199615557 C . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.37 1.125 Uncertain significance 0 -96298 Simple 199506676 T . Uncertain significance 2 5 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-13 -1.26 2.4 Uncertain significance 0 -96306 Simple 200181804 G . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-03 -2.82 1.5 Uncertain significance 0 -96309 Simple 188370772 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -19.5 1.5 Benign/Likely benign 0 -96313 Simple 139506970 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -19.5 1.5 Benign/Likely benign 0 -96316 Simple 72648259 G . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-21 -2.73 1.8 Uncertain significance 0 -96318 Simple 139223781 G . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -19.8 2.5 Benign/Likely benign 1 -96321 Simple 55660660 G . Benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -28.200000000000003 1.4 Benign 0 -96323 Simple 190967471 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-06 -0.78 2.3333333333333335 Uncertain significance 0 -96324 Simple 202214630 G . Benign/Likely benign 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -33.6 1.3333333333333333 Benign 1 -96325 Simple 368786036 T . Uncertain significance 2 2 not specified 2017-09-07 -0.51 2.0 Uncertain significance 0 -96326 Simple 398124462 A . Likely benign 2 2 not specified 2016-11-11 -5.7 1.5 Likely benign 0 -96327 Simple 188917199 T . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-10 -2.61 1.2222222222222223 Uncertain significance 0 -96329 Simple 376175862 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-09-28 -0.48 3.0 Uncertain significance 0 -96330 Simple 398124464 - . Benign/Likely benign 2 4 not specified;Cornelia de Lange Syndrome 2016-11-29 -15.0 2.25 Benign/Likely benign 0 -96331 Simple 140100861 G . Benign/Likely benign 2 5 Cornelia de Lange syndrome 1;not specified;not provided;Cornelia de Lange Syndrome 2017-07-31 -17.4 2.4 Benign/Likely benign 0 -96332 Simple 146033170 G . Benign/Likely benign 2 4 Cornelia de Lange syndrome 1;not specified;Cornelia de Lange Syndrome 2017-01-31 -14.1 1.75 Benign/Likely benign 0 -96333 Simple 3822471 G . Benign 2 3 Cornelia de Lange syndrome 1;not specified;Cornelia de Lange Syndrome 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -96335 Simple 293756 G . Benign/Likely benign 2 5 Cornelia de Lange syndrome 1;not specified;Cornelia de Lange Syndrome 2017-03-08 -22.8 2.2 Benign/Likely benign 0 -96336 Simple 398124465 - . Pathogenic 2 3 Cornelia de Lange syndrome 1;not provided 2017-03-13 13.2 3.3333333333333335 Pathogenic/Likely pathogenic 1 -96337 Simple 398124466 T . Pathogenic 2 2 Cornelia de Lange syndrome 1 2013-02-08 7.2 5.0 Likely pathogenic 2 -96339 Simple 1669445 G . Benign/Likely benign 2 5 Cornelia de Lange syndrome 1;not specified;Cornelia de Lange Syndrome 2017-03-08 -22.2 2.4 Benign/Likely benign 0 -96340 Simple 78827246 G . Benign/Likely benign 2 2 not specified 2014-01-02 -6.0 4.5 Likely benign 1 -96341 Simple 76297333 G . Benign/Likely benign 2 4 not specified;Cornelia de Lange Syndrome 2016-06-14 -15.600000000000001 3.25 Benign/Likely benign 0 -96342 Simple 79924167 A . Benign/Likely benign 2 3 not specified;Cornelia de Lange Syndrome 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -96343 Simple 142923613 A . Benign/Likely benign 2 4 not specified;not provided;Cornelia de Lange Syndrome 2017-01-05 -15.0 2.25 Benign/Likely benign 0 -96346 Simple 10554564 - . Benign 2 2 not specified 2016-08-15 -11.4 1.5 Benign/Likely benign 1 -96348 Simple 61748200 T . Benign 2 3 not specified;Cornelia de Lange Syndrome 2016-08-15 -15.6 2.3333333333333335 Benign/Likely benign 1 -96349 Simple 145778995 C . Benign/Likely benign 2 5 not specified;not provided;Cornelia de Lange Syndrome 2017-08-31 -16.2 2.4 Benign/Likely benign 0 -96352 Simple 398124471 T . Pathogenic 2 3 Cornelia de Lange syndrome 1 2017-04-07 13.2 3.3333333333333335 Pathogenic/Likely pathogenic 1 -96355 Simple 398124474 T . Pathogenic 2 2 Cornelia de Lange syndrome 1 2013-02-08 7.2 5.0 Likely pathogenic 2 -96357 Simple 10967705 G . Benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -96360 Simple 74587818 A . Benign/Likely benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -96361 Simple 10967709 G . Benign/Likely benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -96362 Simple 12237048 G . Benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -96365 Simple 398124475 C . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2016-07-06 6.6 3.0 Likely pathogenic 1 -96366 Simple 34460237 A . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-07-04 -15.0 1.0 Benign/Likely benign 0 -96367 Simple 145184792 G . Benign/Likely benign 2 4 Autosomal recessive polycystic kidney disease;not specified;not provided 2017-04-27 -16.5 1.75 Benign/Likely benign 0 -96369 Simple 115072237 C . Benign 2 1 not specified 2016-04-26 . 1.0 . 0 -96370 Simple 9474034 T . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2017-08-10 -12.6 2.0 Benign/Likely benign 0 -96371 Simple 76572975 A . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-08-10 -10.2 2.0 Benign/Likely benign 1 -96372 Simple 4715227 C . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96373 Simple 2661488 T . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2017-08-08 -14.4 1.0 Benign/Likely benign 0 -96374 Simple 1896976 G . Benign 2 4 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -96375 Simple 34548196 T . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-08-07 -11.4 1.0 Benign/Likely benign 1 -96376 Simple 9381994 C . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96377 Simple 4715272 T . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -96378 Simple 62406036 G . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -96381 Simple 45500692 A . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-08-15 -10.2 2.0 Benign/Likely benign 1 -96382 Simple 201349527 A . Benign/Likely benign 2 1 not specified 2013-06-14 . 4.0 . 0 -96383 Simple 115045643 C . Benign/Likely benign 2 5 Autosomal recessive polycystic kidney disease;not specified;not provided 2017-07-28 -18.3 2.0 Benign/Likely benign 0 -96384 Simple 4715271 G . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-07-04 -14.4 1.3333333333333333 Benign/Likely benign 0 -96385 Simple 6901799 A . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-07-04 -14.4 1.3333333333333333 Benign/Likely benign 0 -96386 Simple 9370096 A . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96387 Simple 398124478 A . Pathogenic 2 2 Autosomal recessive polycystic kidney disease 2017-12-07 11.4 1.0 Pathogenic/Likely pathogenic 1 -96388 Simple 9474143 A . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -96391 Simple 62406032 C . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -96394 Simple 138989655 G . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -96395 Simple 200986136 A . Uncertain significance 2 2 not specified;not provided 2016-11-30 -0.51 2.5 Uncertain significance 0 -96397 Simple 398124483 - . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2014-01-02 5.7 4.5 Likely pathogenic 1 -96398 Simple 398124484 C . Pathogenic/Likely pathogenic 2 3 Autosomal recessive polycystic kidney disease 2017-06-27 13.2 2.0 Pathogenic/Likely pathogenic 0 -96399 Simple 9296669 A . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96403 Simple 116809571 C . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified;not provided 2017-07-28 -12.9 2.0 Benign/Likely benign 0 -96405 Simple 12210725 C . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-09-21 -14.4 1.3333333333333333 Benign/Likely benign 0 -96407 Simple 9474140 G . Benign 2 1 not specified 2015-10-09 . 2.0 . 0 -96410 Simple 2435322 C . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96411 Simple 115338476 A . Benign/Likely benign 2 4 Autosomal recessive polycystic kidney disease;not specified;not provided 2017-07-28 -15.3 2.25 Benign/Likely benign 0 -96414 Simple 1266923 A . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -96415 Simple 138161138 - . Benign/Likely benign 2 4 Autosomal recessive polycystic kidney disease;not specified;not provided 2017-08-10 -20.4 1.0 Benign/Likely benign 0 -96416 Simple 144025892 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -96420 Simple 111809699 A . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2017-05-02 -17.4 1.0 Benign/Likely benign 1 -96421 Simple 12210295 T . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96422 Simple 7452724 G . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96423 Simple 9349603 C . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96426 Simple 7766366 C . Benign/Likely benign 2 4 Autosomal recessive polycystic kidney disease;not specified 2017-08-01 -15.3 2.25 Benign/Likely benign 0 -96427 Simple 139555370 T . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-09-20 -11.4 1.5 Benign/Likely benign 1 -96429 Simple 1571084 T . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96430 Simple 12529717 C . Benign 2 1 not specified 2016-02-04 . 2.0 . 0 -96432 Simple 398124495 G . Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2016-10-12 5.7 1.5 Likely pathogenic 0 -96434 Simple 398124497 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -96436 Simple 142522748 T . Benign/Likely benign 2 4 Autosomal recessive polycystic kidney disease;not specified 2017-06-26 -15.6 2.0 Benign/Likely benign 0 -96439 Simple 398124500 A . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2015-01-16 6.0 4.0 Likely pathogenic 1 -96441 Simple 765525 T . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -96442 Simple 398124501 - . Pathogenic 2 2 Autosomal recessive polycystic kidney disease 2015-10-01 10.2 2.5 Pathogenic/Likely pathogenic 1 -96443 Simple 17752991 A . Benign/Likely benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2014-08-14 -6.0 4.0 Likely benign 1 -96445 Simple 398124503 A . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2016-01-06 6.9 3.0 Likely pathogenic 1 -96451 Simple 75489697 A . Benign 2 4 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified 2017-05-25 -17.4 3.5 Benign/Likely benign 1 -96454 Simple 398124510 . . Benign/Likely benign 2 3 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified 2016-07-04 -10.8 3.3333333333333335 Benign/Likely benign 0 -96455 Simple 398124511 . . Pathogenic 2 4 Mental retardation, with or without seizures, ARX-related, X-linked;Lissencephaly 2, X-linked;not provided 2017-05-25 22.8 1.25 Pathogenic 0 -96468 Simple 8065832 A . Benign 2 5 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2016-07-18 -28.8 1.4 Benign 0 -96469 Simple 398124524 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-05-10 15.0 2.3333333333333335 Pathogenic 0 -96471 Simple 398124525 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2015-12-17 14.4 3.0 Pathogenic/Likely pathogenic 1 -96472 Simple 148257120 A . Uncertain significance 2 2 Multiple fibrofolliculomas;not specified 2016-06-21 -0.51 2.5 Uncertain significance 0 -96474 Simple 61750032 T . Benign 2 6 Multiple fibrofolliculomas;not specified;Hereditary cancer-predisposing syndrome;Spontaneous pneumothorax 2017-08-15 -30.0 2.5 Benign 0 -96475 Simple 398124527 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2014-07-18 8.4 4.0 Pathogenic/Likely pathogenic 1 -96476 Simple 398124528 C . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-07-07 12.6 2.0 Pathogenic/Likely pathogenic 0 -96477 Simple 398124529 - . Pathogenic/Likely pathogenic 2 3 Multiple fibrofolliculomas;not provided 2016-07-18 12.600000000000001 2.3333333333333335 Pathogenic/Likely pathogenic 0 -96478 Simple 398124530 T . Pathogenic 2 3 Multiple fibrofolliculomas;not provided 2017-08-08 16.2 1.6666666666666667 Pathogenic 0 -96480 Simple 398124532 A . Pathogenic/Likely pathogenic 2 2 not provided 2017-05-17 6.6 2.5 Likely pathogenic 1 -96481 Simple 398124533 C . Pathogenic 2 5 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-08-24 27.6 1.4 Pathogenic 0 -96482 Simple 398124534 - . Pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2016-07-18 19.8 2.75 Pathogenic 0 -96483 Simple 398124535 GTG . Pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-07-07 21.0 2.0 Pathogenic 0 -96484 Simple 398124536 A . Pathogenic 2 3 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-01-20 16.2 2.0 Pathogenic 0 -96485 Simple 3744123 T . Benign 2 4 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -96486 Simple 1736219 A . Benign 2 4 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -96488 Simple 398124538 TA . Pathogenic 2 3 Multiple fibrofolliculomas;not provided 2017-02-02 15.6 2.3333333333333335 Pathogenic 0 -96489 Simple 113938514 A . Benign 2 6 Multiple fibrofolliculomas;not specified;Hereditary cancer-predisposing syndrome;Spontaneous pneumothorax 2017-08-10 -30.6 2.3333333333333335 Benign 0 -96492 Simple 398124541 - . Pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2016-09-01 21.6 2.0 Pathogenic 0 -96493 Simple 398124542 . . Pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-10-03 23.4 1.0 Pathogenic 0 -96494 Simple 76335820 T . Benign/Likely benign 2 5 Dystonia 10;not specified;not provided 2017-08-02 -22.8 2.2 Benign/Likely benign 0 -96495 Simple 10209969 T . Benign 2 2 not specified 2016-10-31 -10.2 2.5 Benign/Likely benign 1 -96497 Simple 11538448 T . Benign/Likely benign 2 3 not specified;Acute Recurrent Myoglobinuria 2016-10-31 -13.2 2.0 Benign/Likely benign 0 -96499 Simple 35487251 A . Benign 2 2 Bardet-Biedl syndrome;not specified 2016-11-07 -10.2 2.5 Benign/Likely benign 1 -96500 Simple 398124544 A . Pathogenic 2 2 not provided 2015-04-28 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -96501 Simple 17603428 A . Benign 2 1 not specified 2014-06-03 . 3.0 . 0 -96503 Simple 1126058 C . Benign 2 2 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96504 Simple 138036823 C . Benign/Likely benign 2 4 Bardet-Biedl syndrome;not specified;not provided 2017-05-09 -15.9 1.5 Benign/Likely benign 0 -96506 Simple 3747562 G . Benign/Likely benign 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -96509 Simple 145643112 T . Benign/Likely benign 2 5 Nephronophthisis;not specified;not provided 2017-08-01 -22.2 1.4 Benign/Likely benign 0 -96510 Simple 77533254 T . Benign/Likely benign 2 7 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified;not provided 2017-07-28 -30.0 1.5714285714285714 Benign 1 -96512 Simple 62292468 G . Benign/Likely benign 2 6 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified 2017-08-15 -24.6 1.5 Benign 1 -96513 Simple 16839515 T . Benign/Likely benign 2 6 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified 2017-08-15 -24.6 1.5 Benign 1 -96515 Simple 398124547 - . Benign 2 2 Nephronophthisis;not specified 2017-05-16 -11.4 1.0 Benign/Likely benign 1 -96518 Simple 55824836 G . Benign/Likely benign 2 3 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -96520 Simple 2498170 C . Benign/Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -96522 Simple 16940094 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -96523 Simple 8057712 G . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -96525 Simple 10679953 TTCCCCTTCCCC . Benign 2 2 Pigmentary pallidal degeneration;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96526 Simple 3737084 C . Benign 2 2 Pigmentary pallidal degeneration;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96528 Simple 3097427 T . Benign/Likely benign 2 5 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-07-26 -29.4 1.0 Benign 1 -96529 Simple 16916221 C . Benign/Likely benign 2 5 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-08-10 -19.2 1.4 Benign/Likely benign 0 -96530 Simple 398124550 C . Uncertain significance 2 2 not specified;not provided 2015-08-26 -0.48 3.0 Uncertain significance 0 -96531 Simple 398124551 C . Uncertain significance 2 2 not specified;not provided 2015-08-26 -0.48 3.0 Uncertain significance 0 -96532 Simple 398124552 - . Pathogenic 2 1 Methylmalonic aciduria cblA type;not provided 2013-01-21 . 5.0 . 0 -96533 Simple 2270655 C . Benign/Likely benign 2 4 Methylmalonic acidemia;not specified 2017-03-26 -17.4 2.25 Benign/Likely benign 0 -96535 Simple 55971855 G . Benign 2 1 not specified 2013-10-02 . 4.0 . 0 -96536 Simple 186998620 T . Benign/Likely benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -96539 Simple 10499 A . Benign 2 3 Brody myopathy;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -96540 Simple 12596913 A . Benign/Likely benign 2 4 Brody myopathy;not specified 2017-08-08 -18.6 1.75 Benign/Likely benign 0 -96541 Simple 66716803 - . Benign/Likely benign 2 3 Brody myopathy;not specified 2017-08-11 -12.6 2.0 Benign/Likely benign 0 -96545 Simple 6565259 C . Benign 2 3 Brody myopathy;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -96557 Simple 35083095 C . Benign 2 2 Multiple sulfatase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96558 Simple 2633851 A . Benign 2 2 Multiple sulfatase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96559 Simple 2633852 G . Benign 2 2 Multiple sulfatase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -96572 Simple 9448894 T . Benign 2 3 Maple syrup urine disease;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -96579 Simple 398124573 G . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease 2016-04-27 7.2 2.5 Likely pathogenic 1 -96581 Simple 73479953 T . Benign/Likely benign 2 1 not specified 2013-08-23 . 4.0 . 0 -96582 Simple 398124575 T . Uncertain significance 2 2 Maple syrup urine disease;not specified 2016-09-29 -0.51 2.5 Uncertain significance 0 -96591 Simple 371518124 A . Pathogenic 2 2 Maple syrup urine disease;not provided 2015-05-13 10.2 2.5 Pathogenic/Likely pathogenic 1 -96595 Simple 149766077 T . Likely pathogenic 2 2 Maple syrup urine disease;not provided 2017-09-07 5.7 1.0 Likely pathogenic 0 -96599 Simple 398124587 - . Pathogenic 2 2 Maple syrup urine disease 2017-07-24 10.2 2.0 Pathogenic/Likely pathogenic 1 -96609 Simple 398124594 T . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease 2014-10-17 6.6 3.5 Likely pathogenic 1 -96611 Simple 398124596 G . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease 2016-01-25 6.9 3.0 Likely pathogenic 1 -96615 Simple 398124598 T . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease 2014-08-22 6.6 3.5 Likely pathogenic 1 -96619 Simple 3749896 T . Benign/Likely benign 2 1 not specified 2013-08-23 . 4.0 . 0 -96621 Simple 398124603 T . Pathogenic/Likely pathogenic 2 3 Maple syrup urine disease 2016-06-14 10.8 2.0 Pathogenic/Likely pathogenic 0 -96624 Simple 1041073 A . Benign 2 1 not specified 2014-12-10 . 3.0 . 0 -96625 Simple 117111131 C . Benign 2 1 not specified 2013-02-18 . 5.0 . 0 -96626 Simple 9542307 G . Benign 2 1 not specified 2013-07-02 . 4.0 . 0 -96627 Simple 9564692 T . Benign 2 1 not specified 2013-07-03 . 4.0 . 0 -96628 Simple 4943266 C . Benign 2 1 not specified 2015-05-04 . 2.0 . 0 -96630 Simple 34830061 A . Benign/Likely benign 2 4 Peters plus syndrome;not specified;not provided 2017-09-25 -18.0 1.75 Benign/Likely benign 0 -96631 Simple 41312949 G . Benign 2 1 not specified 2013-07-08 . 4.0 . 0 -96632 Simple 150688899 T . Benign/Likely benign 2 2 Nance-Horan syndrome;not specified 2017-08-15 -10.2 2.0 Benign/Likely benign 0 -96634 Simple 398124605 T . Benign/Likely benign 2 5 Nance-Horan syndrome;not specified;not provided 2017-04-25 -24.6 1.8 Benign 1 -96635 Simple 10590816 - . Benign/Likely benign 2 3 Nance-Horan syndrome;not specified 2017-04-25 -15.6 2.0 Benign/Likely benign 0 -96638 Simple 398124607 . . Uncertain significance 2 3 Nance-Horan syndrome;not provided 2017-05-31 -0.84 1.3333333333333333 Uncertain significance 0 -96644 Simple 5901624 TT . Benign/Likely benign 2 2 not specified 2016-02-21 -6.9 3.0 Likely benign 1 -96647 Simple 61764067 A . Benign 2 3 Bardet-Biedl syndrome;not specified 2017-06-28 -16.8 1.3333333333333333 Benign/Likely benign 1 -96649 Simple 8037349 C . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -96651 Simple 3803530 A . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -96652 Simple 9672296 T . Benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -96653 Simple 12900805 T . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -96655 Simple 9672286 T . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -96656 Simple 199959946 T . Uncertain significance 2 2 not specified 2014-06-27 -0.44999999999999996 3.5 Uncertain significance 0 -96660 Simple 12042179 T . Benign 2 5 Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -25.2 2.6 Benign 0 -96665 Simple 398124618 - . Pathogenic 2 2 Usher syndrome, type 2A;not provided 2016-09-13 11.4 1.5 Pathogenic/Likely pathogenic 1 -96669 Simple 398124621 A . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -96670 Simple 6501820 C . Benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -96671 Simple 8079373 G . Benign 2 4 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -18.6 3.25 Benign/Likely benign 1 -96672 Simple 77247739 C . Benign/Likely benign 2 4 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -15.0 3.5 Benign/Likely benign 0 -96673 Simple 7216673 T . Benign 2 4 Pontoneocerebellar hypoplasia;not specified 2017-06-14 -22.8 1.25 Benign/Likely benign 1 -96678 Simple 72105710 - . Benign/Likely benign 2 1 not specified 2013-07-17 . 4.0 . 0 -96680 Simple 76850415 G . Benign 2 2 not specified 2016-01-12 -9.600000000000001 3.0 Benign/Likely benign 1 -96681 Simple 4312063 C . Benign 2 7 not specified;not provided;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-12 -36.6 2.142857142857143 Benign 0 -96684 Simple 146983312 - . Benign/Likely benign 2 5 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -21.0 2.0 Benign/Likely benign 0 -96685 Simple 398124625 A . Pathogenic 2 4 Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided 2017-03-30 22.2 1.5 Pathogenic 0 -96686 Simple 7104758 C . Benign 2 2 not specified;not provided 2016-02-16 -9.600000000000001 3.0 Benign/Likely benign 1 -96687 Simple 7481951 T . Benign/Likely benign 2 8 not specified;not provided;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-12 -37.2 1.875 Benign 1 -96688 Simple 398124626 TT . Pathogenic 2 4 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided 2017-08-29 22.200000000000003 1.5 Pathogenic 0 -96761 Simple 431825280 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-11-28 -0.6 1.0 Uncertain significance 0 -96762 Simple 397507263 A . Benign/Likely benign 2 7 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -23.4 0.8571428571428571 Benign/Likely benign 0 -96768 Simple 431825284 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified 2015-04-15 -0.51 2.5 Uncertain significance 0 -96771 Simple 431825287 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-01-25 -0.54 2.0 Uncertain significance 0 -96772 Simple 431825288 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -96776 Simple 431825292 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -96782 Simple 431825298 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-29 -0.6 1.0 Uncertain significance 0 -96783 Simple 431825299 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.0 Uncertain significance 0 -96784 Simple 431825300 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -96785 Simple 431825301 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-05-18 -0.6 1.0 Uncertain significance 0 -96787 Simple 431825303 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2014-10-11 -0.48 3.0 Uncertain significance 0 -96789 Simple 431825305 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -96791 Simple 431825307 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 15.3 1.3333333333333333 Pathogenic 0 -96798 Simple 431825312 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -96801 Simple 80358641 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.3333333333333333 Pathogenic 0 -96802 Simple 431825315 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -96804 Simple 431825317 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-08 -0.5700000000000001 1.0 Uncertain significance 0 -96805 Simple 431825318 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-21 -1.32 2.2 Uncertain significance 0 -96808 Simple 431825321 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -96811 Simple 431825323 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -96812 Simple 431825324 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-02 -0.87 0.6666666666666666 Uncertain significance 0 -96814 Simple 431825326 - . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-05-06 -0.5700000000000001 1.5 Uncertain significance 0 -96819 Simple 431825329 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -96820 Simple 431825330 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -96823 Simple 431825332 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -96825 Simple 80358796 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-03-23 -0.5700000000000001 1.5 Uncertain significance 0 -96828 Simple 431825334 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-16 -0.6 0.5 Uncertain significance 0 -96833 Simple 80358850 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-10-14 -0.54 2.0 Uncertain significance 0 -96834 Simple 431825338 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not specified 2016-09-08 9.6 1.0 Pathogenic/Likely pathogenic 1 -96837 Simple 431825341 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-10 -0.87 1.3333333333333333 Uncertain significance 0 -96838 Simple 431825342 TT . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.4 Pathogenic 0 -96839 Simple 431825343 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -96840 Simple 431825344 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-03 -0.6 1.0 Uncertain significance 0 -96844 Simple 80358923 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.0 Pathogenic 0 -96848 Simple 431825350 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 36.0 0.8333333333333334 Pathogenic 0 -96850 Simple 431825352 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-04-08 -0.5700000000000001 1.5 Uncertain significance 0 -96852 Simple 11571707 C . Benign 3 18 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-28 -92.1 2.1666666666666665 Benign 0 -96854 Simple 80358989 T . Uncertain significance 2 5 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Medulloblastoma;Wilms tumor 1;Malignant tumor of prostate;Tracheoesophageal fistula;Pancreatic cancer 2;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -1.38 1.4 Uncertain significance 0 -96855 Simple 431825354 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -1.44 1.2 Uncertain significance 0 -96858 Simple 431825356 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -96859 Simple 431825357 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-12-23 -0.84 1.6666666666666667 Uncertain significance 0 -96860 Simple 431825358 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.41 1.0 Uncertain significance 0 -96862 Simple 431825360 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-01-22 -0.54 2.0 Uncertain significance 0 -96867 Simple 431825365 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.6666666666666666 Pathogenic 0 -96871 Simple 431825368 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.87 1.0 Uncertain significance 0 -96874 Simple 431825371 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.2 Pathogenic 0 -96877 Simple 431825373 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-10-17 -0.5700000000000001 1.5 Uncertain significance 0 -96878 Simple 80359158 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-02 -1.11 1.75 Uncertain significance 0 -96879 Simple 431825374 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -96882 Simple 80359220 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-01-25 -0.51 2.5 Uncertain significance 0 -96883 Simple 377123889 G . Benign/Likely benign 1 1 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-06-22 . 2.0 . 0 -96885 Simple 431825377 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-21 -0.5700000000000001 1.5 Uncertain significance 0 -96889 Simple 431825380 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-21 -0.6 1.0 Uncertain significance 0 -96890 Simple 431825381 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 5.7299999999999995 1.25 Likely pathogenic 2 -96895 Simple 431825384 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -96896 Simple 80357481 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -96898 Simple 431825385 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -96900 Simple 431825386 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -96902 Simple 431825387 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -96903 Simple 80357521 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -96905 Simple 431825389 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -96909 Simple 431825393 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-05 -0.84 1.6666666666666667 Uncertain significance 0 -96911 Simple 431825395 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-18 -0.87 1.0 Uncertain significance 0 -96912 Simple 431825396 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-15 -0.6 1.0 Uncertain significance 0 -96913 Simple 80357247 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-28 -0.6 0.0 Uncertain significance 0 -96914 Simple 431825397 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -96915 Simple 431825398 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -96923 Simple 431825404 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -96924 Simple 397509136 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 0.75 Pathogenic 0 -96930 Simple 80357548 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -96935 Simple 431825409 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -96941 Simple 80358129 T . Benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -19.740000000000002 1.75 Benign/Likely benign 1 -96952 Simple 80357757 TCTC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -96954 Simple 431825419 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.81 1.6666666666666667 Uncertain significance 0 -96982 Simple 147557169 T . Uncertain significance 2 2 Familial Mediterranean fever;not specified 2017-04-07 -0.6 0.5 Uncertain significance 0 -97428 Simple 104895198 T . Uncertain significance 2 3 Familial Mediterranean fever;not specified 2017-05-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -97441 Simple 104895151 A . Uncertain significance 2 3 Familial Mediterranean fever;not specified;not provided 2017-07-18 -0.8999999999999999 0.0 Uncertain significance 0 -97446 Simple 61732424 T . Benign 2 3 Familial Mediterranean fever;not specified 2017-07-10 -15.0 2.3333333333333335 Benign/Likely benign 1 -97458 Simple 79662406 T . Benign/Likely benign 2 2 Familial Mediterranean fever;not specified 2017-10-13 -9.0 0.0 Benign/Likely benign 0 -97485 Simple 104895093 - . Pathogenic 2 2 Familial Mediterranean fever;not provided 2016-12-19 10.8 2.0 Pathogenic/Likely pathogenic 1 -97535 Simple 104895162 G . Benign/Likely benign 2 2 Familial Mediterranean fever;not specified 2017-07-11 -6.6 2.5 Likely benign 1 -97537 Simple 104895080 T . Uncertain significance 2 2 Familial Mediterranean fever;not specified 2017-05-08 -0.6 0.5 Uncertain significance 0 -97557 Simple 104895112 T . Uncertain significance 2 4 Familial Mediterranean fever;not specified 2017-10-27 -1.17 0.5 Uncertain significance 0 -97620 Simple 104895331 G . Benign/Likely benign 2 3 Mevalonic aciduria;Porokeratosis, disseminated superficial actinic 1;Hyperimmunoglobulin D with periodic fever;not specified;not provided 2017-08-07 -11.7 0.6666666666666666 Benign/Likely benign 0 -97632 Simple 104895353 T . Benign/Likely benign 2 4 Mevalonic aciduria;Porokeratosis, disseminated superficial actinic 1;Hyperimmunoglobulin D with periodic fever;not specified 2017-08-04 -18.0 0.75 Benign/Likely benign 0 -97813 Simple 104895501 C . Benign/Likely benign 2 2 Majeed syndrome;not specified 2017-05-01 -9.0 0.5 Benign/Likely benign 0 -97889 Simple 104895568 G . Benign/Likely benign 2 1 not specified;not provided;Familial cold autoinflammatory syndrome 2016-06-14 . 1.0 . 0 -97891 Simple 104895570 T . Benign/Likely benign 2 2 Familial cold autoinflammatory syndrome 2;not provided;Familial cold autoinflammatory syndrome 2017-06-14 -9.0 0.5 Benign/Likely benign 0 -97909 Simple 151344629 T . Pathogenic 2 4 Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not specified;not provided;Cryopyrin associated periodic syndrome 2017-04-20 22.8 1.25 Pathogenic 0 -97918 Simple 148478875 T . Benign/Likely benign 2 5 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not specified;Familial cold autoinflammatory syndrome;Cryopyrin associated periodic syndrome 2017-07-31 -21.0 0.8 Benign/Likely benign 0 -97931 Simple 111400208 T . Benign/Likely benign 2 5 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not specified;Familial cold autoinflammatory syndrome;Cryopyrin associated periodic syndrome 2017-07-22 -21.0 0.6 Benign/Likely benign 0 -97940 Simple 116054301 T . Benign/Likely benign 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not specified;Familial cold autoinflammatory syndrome;Cryopyrin associated periodic syndrome 2017-07-12 -15.0 0.75 Benign/Likely benign 0 -97986 Simple 143840033 T . Benign/Likely benign 2 1 Familial cold urticaria;not specified;Cryopyrin associated periodic syndrome 2017-06-30 . 0.0 . 0 -97989 Simple 180177501 G . Uncertain significance 2 2 Familial cold urticaria;not specified;Cryopyrin associated periodic syndrome 2017-08-21 -0.6 0.0 Uncertain significance 0 -97995 Simple 58973334 A . Benign/Likely benign 2 3 Alzheimer's disease;Early-Onset Familial Alzheimer Disease;not provided;Dilated Cardiomyopathy, Dominant 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -97999 Simple 2279720 T . Benign 2 1 Frontotemporal dementia;not specified;not provided 2016-06-14 . 1.0 . 0 -98000 Simple 11540913 C . Benign 2 1 Frontotemporal dementia;not specified;not provided 2016-06-14 . 1.0 . 0 -98001 Simple 1044499 C . Benign 2 1 Frontotemporal dementia;not specified;not provided 2016-06-14 . 1.0 . 0 -98094 Simple 17125721 G . Benign/Likely benign 2 4 Alzheimer disease, type 3;Alzheimer's disease;Frontotemporal dementia;Pick's disease;Early-Onset Familial Alzheimer Disease;Acne inversa, familial, 3;not specified;not provided;Dilated Cardiomyopathy, Dominant 2017-07-31 -16.2 1.5 Benign/Likely benign 0 -98120 Simple 63750723 T . Benign/Likely benign 2 3 Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;not specified;not provided 2017-06-20 -15.0 0.3333333333333333 Benign/Likely benign 0 -98123 Simple 63750742 T . Benign/Likely benign 2 2 Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;not specified;not provided 2017-06-20 -9.0 0.5 Benign/Likely benign 0 -98137 Simple 25646 C . Benign/Likely benign 2 1 Frontotemporal dementia;not specified;not provided 2016-06-14 . 1.0 . 0 -98180 Simple 63750412 T . Benign/Likely benign 2 3 Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;not provided 2017-06-28 -11.7 1.0 Benign/Likely benign 0 -98189 Simple 25647 C . Benign/Likely benign 2 2 Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;not provided 2017-06-23 -9.0 0.5 Benign/Likely benign 0 -98197 Simple 63750072 G . Benign 2 1 Frontotemporal dementia;not specified;not provided 2017-08-07 . 0.0 . 0 -98204 Simple 1052551 A . Benign 2 2 not specified;not provided;MAPT-Related Spectrum Disorders 2016-06-14 -9.0 4.0 Benign/Likely benign 1 -98205 Simple 63750612 A . Benign/Likely benign 2 1 not specified;not provided;MAPT-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -98207 Simple 1052553 G . Benign 2 2 not specified;not provided;MAPT-Related Spectrum Disorders 2016-06-14 -9.0 4.0 Benign/Likely benign 1 -98209 Simple 17652121 C . Benign 2 2 not specified;not provided;MAPT-Related Spectrum Disorders 2016-06-14 -9.0 4.0 Benign/Likely benign 1 -98211 Simple 11568305 A . Benign/Likely benign 2 3 Frontotemporal dementia;not specified;not provided;MAPT-Related Spectrum Disorders 2017-08-07 -12.0 2.6666666666666665 Benign/Likely benign 0 -98314 Simple 121912276 A . Benign/Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Tobacco use disorder 2017-07-11 -7.2 2.0 Likely benign 1 -98315 Simple 121912277 A . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Tobacco use disorder 2016-07-14 -0.6 1.0 Uncertain significance 0 -98318 Simple 121912280 T . Benign/Likely benign 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Tobacco use disorder 2017-06-28 -14.4 1.0 Benign/Likely benign 0 -98322 Simple 121912284 T . Benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Tobacco use disorder 2017-04-05 -9.6 2.5 Benign/Likely benign 1 -98323 Simple 121912285 T . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Tobacco use disorder 2017-09-06 -0.6 0.0 Uncertain significance 0 -98325 Simple 121912244 A . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Tobacco use disorder 2017-07-11 -0.5700000000000001 1.0 Uncertain significance 0 -98334 Simple 121912253 T . Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Tobacco use disorder 2017-10-27 -6.0 0.5 Likely benign 0 -98430 Simple 140744818 A . Likely benign 2 2 Mental retardation, autosomal dominant 6;not specified;not provided;Epileptic encephalopathy, early infantile, 27 2017-03-03 -6.0 1.0 Likely benign 0 -98431 Simple 1805246 A . Benign/Likely benign 2 5 Mental retardation, autosomal dominant 6;not specified;not provided;Epileptic encephalopathy, early infantile, 27;Intellectual Disability, Dominant 2017-08-11 -23.4 1.8 Benign/Likely benign 0 -98436 Simple 35125534 A . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 6;not specified;not provided;Epileptic encephalopathy, early infantile, 27;Intellectual Disability, Dominant 2017-08-10 -13.8 1.3333333333333333 Benign/Likely benign 0 -98440 Simple 35025065 A . Benign 2 4 Mental retardation, autosomal dominant 6;not specified;not provided;Epileptic encephalopathy, early infantile, 27 2017-08-14 -21.0 1.75 Benign/Likely benign 1 -98441 Simple 115189840 T . Benign 2 2 Mental retardation, autosomal dominant 6;not specified;not provided;Epileptic encephalopathy, early infantile, 27 2017-08-03 -10.8 1.5 Benign/Likely benign 1 -98442 Simple 34315573 T . Benign/Likely benign 2 2 not specified;not provided;Intellectual Disability, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -98453 Simple 367543124 A . Uncertain significance 2 2 not specified;not provided 2017-05-08 -0.54 1.5 Uncertain significance 0 -98558 Simple 34598902 T . Benign/Likely benign 2 2 not specified;not provided 2016-03-28 -10.8 2.0 Benign/Likely benign 0 -98563 Simple 61750168 T . Pathogenic 2 2 Leber congenital amaurosis 1;not provided 2017-08-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -98713 Simple 281865373 A . Pathogenic 2 2 Retinitis pigmentosa 7;not provided 2015-08-26 10.8 2.0 Pathogenic/Likely pathogenic 1 -98725 Simple 41305223 C . Benign 2 1 Primary ciliary dyskinesia;not specified;not provided 2017-08-01 . 0.0 . 0 -98731 Simple 5918522 C . Benign 2 1 not specified;not provided 2016-04-25 . 1.0 . 0 -98734 Simple 1801687 T . Benign 2 2 not specified;not provided 2015-01-13 -9.6 3.0 Benign/Likely benign 1 -98737 Simple 62635003 C . Benign 2 1 not specified;not provided 2015-01-13 . 3.0 . 0 -98741 Simple 62638631 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified;not provided 2016-01-01 -8.100000000000001 2.0 Likely benign 1 -98820 Simple 12145904 T . Benign/Likely benign 2 3 Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -98825 Simple 61751276 T . Pathogenic/Likely pathogenic 2 2 Leber congenital amaurosis 2;Retinitis pigmentosa 20;not provided;Retinal dystrophy 2017-05-03 11.4 1.0 Pathogenic/Likely pathogenic 0 -98836 Simple 34627040 A . Benign 2 3 Leber congenital amaurosis 2;Retinitis pigmentosa 20;not specified;not provided 2017-04-18 -18.0 0.6666666666666666 Benign/Likely benign 1 -98841 Simple 12564647 G . Benign 2 1 not specified;not provided 2011-09-01 . 6.0 . 0 -98960 Simple 61752159 T . Pathogenic/Likely pathogenic 2 2 Juvenile retinoschisis;not provided 2016-11-04 8.4 1.5 Pathogenic/Likely pathogenic 0 -98979 Simple 281865348 T . Pathogenic/Likely pathogenic 2 2 Juvenile retinoschisis;not provided 2016-08-04 8.4 1.5 Pathogenic/Likely pathogenic 0 -98997 Simple 281865355 T . Pathogenic/Likely pathogenic 2 2 Juvenile retinoschisis;not provided 2017-06-21 9.0 0.5 Pathogenic/Likely pathogenic 0 -99006 Simple 281865361 A . Likely pathogenic 2 2 Juvenile retinoschisis;not provided 2016-11-14 5.7 1.5 Likely pathogenic 0 -99035 Simple 61748550 A . Pathogenic 2 6 Cone-rod dystrophy 3;Age-related macular degeneration 2;Stargardt disease 1;Retinitis pigmentosa 19;not provided 2017-05-15 35.4 1.0 Pathogenic 0 -99037 Simple 4147830 A . Benign 2 6 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -31.8 2.1666666666666665 Benign 0 -99040 Simple 3112831 C . Benign/Likely benign 2 8 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-10-26 -29.4 1.75 Benign 1 -99041 Simple 4147831 A . Benign/Likely benign 2 7 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-10-31 -25.8 2.0 Benign 1 -99048 Simple 281865386 G . Benign/Likely benign 2 5 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -17.4 1.2 Benign/Likely benign 0 -99052 Simple 1800548 T . Uncertain significance 2 2 not specified;not provided 2017-01-31 -0.5700000000000001 1.5 Uncertain significance 0 -99065 Simple 150774447 T . Pathogenic/Likely pathogenic 2 5 Cone-rod dystrophy 3;Stargardt disease 1;Retinitis pigmentosa 19;not provided 2016-01-01 24.3 2.0 Pathogenic 1 -99084 Simple 61749409 A . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;not provided;Retinal dystrophy 2016-01-22 10.8 2.0 Pathogenic/Likely pathogenic 0 -99104 Simple 61752401 T . Pathogenic 2 2 Stargardt disease 1;not provided 2016-01-25 10.8 2.0 Pathogenic/Likely pathogenic 1 -99108 Simple 61749420 A . Likely pathogenic 2 2 Stargardt disease 1;not provided 2017-01-31 5.7 1.5 Likely pathogenic 0 -99110 Simple 201738997 C . Pathogenic 2 2 Stargardt disease 1;not provided 2016-09-23 11.4 1.5 Pathogenic/Likely pathogenic 1 -99114 Simple 61749423 A . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;Leber congenital amaurosis;not provided;Bull's eye maculopathy 2016-01-01 10.8 2.0 Pathogenic/Likely pathogenic 0 -99127 Simple 61751395 T . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-02-01 8.100000000000001 2.0 Likely pathogenic 1 -99144 Simple 61752406 T . Pathogenic 2 3 Stargardt disease 1;not provided 2016-11-14 16.8 1.6666666666666667 Pathogenic 0 -99169 Simple 61754033 A . Uncertain significance 2 5 Stargardt disease 1;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -1.47 1.2 Uncertain significance 0 -99178 Simple 61752411 A . Pathogenic/Likely pathogenic 2 2 not provided 2017-05-31 8.4 1.0 Pathogenic/Likely pathogenic 0 -99179 Simple 61754034 A . Benign/Likely benign 2 6 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-10-31 -21.0 1.8333333333333333 Benign/Likely benign 0 -99196 Simple 61749459 T . Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-10-12 5.7 1.5 Likely pathogenic 0 -99258 Simple 1801666 T . Benign/Likely benign 2 5 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -15.0 2.0 Benign/Likely benign 0 -99263 Simple 61750137 A . Pathogenic 2 2 Stargardt disease 1;not provided 2016-01-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -99271 Simple 1800549 A . Benign/Likely benign 2 5 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -16.8 1.4 Benign/Likely benign 0 -99283 Simple 61750145 A . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-11-18 8.7 1.5 Pathogenic/Likely pathogenic 0 -99284 Simple 61750146 G . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-10-12 8.7 1.5 Pathogenic/Likely pathogenic 0 -99288 Simple 61751402 T . Pathogenic/Likely pathogenic 2 3 Stargardt disease 1;not provided;Retinal dystrophy 2016-03-31 16.8 1.6666666666666667 Pathogenic 1 -99303 Simple 61750152 A . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;Retinitis pigmentosa 19;not provided 2017-04-01 10.8 1.5 Pathogenic/Likely pathogenic 0 -99304 Simple 62642574 T . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-01-01 7.5 2.5 Likely pathogenic 1 -99321 Simple 61750155 T . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-01-01 8.100000000000001 2.0 Likely pathogenic 1 -99331 Simple 61751403 T . Pathogenic/Likely pathogenic 2 3 Stargardt disease 1;not provided;Retinal dystrophy 2017-02-23 16.8 1.6666666666666667 Pathogenic 1 -99338 Simple 61750562 G . Pathogenic/Likely pathogenic 2 3 Stargardt disease 1;not provided 2016-12-31 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -99349 Simple 61750566 - . Pathogenic 2 2 Stargardt disease 1;not provided 2016-09-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -99351 Simple 61751377 T . Pathogenic 2 2 Stargardt disease 1;not provided 2016-08-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -99390 Simple 1801466 A . Benign/Likely benign 2 7 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-08-31 -22.8 2.0 Benign/Likely benign 0 -99396 Simple 1801574 G . Benign/Likely benign 2 7 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-10-31 -26.4 1.8571428571428572 Benign 1 -99403 Simple 61751407 T . Pathogenic/Likely pathogenic 2 5 Cone-rod dystrophy 3;Stargardt disease 1;Retinitis pigmentosa 19;Stargardt disease;not provided 2017-05-09 29.4 1.0 Pathogenic 1 -99407 Simple 4147857 C . Benign/Likely benign 2 6 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-10-26 -21.6 1.6666666666666667 Benign/Likely benign 0 -99408 Simple 1800739 T . Benign/Likely benign 2 6 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -19.8 2.1666666666666665 Benign/Likely benign 0 -99413 Simple 56142141 A . Benign/Likely benign 2 5 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -15.6 1.8 Benign/Likely benign 0 -99426 Simple 4147863 T . Benign 2 1 not specified;not provided 2012-10-10 . 5.0 . 0 -99428 Simple 61750641 T . Pathogenic/Likely pathogenic 2 3 Stargardt disease 1;not provided 2017-06-02 14.7 1.0 Pathogenic/Likely pathogenic 0 -99438 Simple 61750645 A . Pathogenic/Likely pathogenic 2 4 Stargardt disease 1;Retinitis pigmentosa 19;not provided;Retinal dystrophy 2016-01-01 18.900000000000002 2.0 Pathogenic 1 -99440 Simple 1801359 A . Benign/Likely benign 2 6 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -19.8 2.1666666666666665 Benign/Likely benign 0 -99443 Simple 17110761 T . Benign/Likely benign 2 6 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -19.8 2.1666666666666665 Benign/Likely benign 0 -99444 Simple 1801555 G . Benign 2 5 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -27.0 2.0 Benign 0 -99447 Simple 61750648 A . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-04-08 8.7 1.5 Pathogenic/Likely pathogenic 0 -99454 Simple 6657239 T . Benign/Likely benign 2 7 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2017-05-29 -26.4 1.7142857142857142 Benign 1 -99460 Simple 61750654 A . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;Visual loss;not provided;Blindness;Retinal dystrophy;Macular degeneration 2015-05-26 10.2 2.5 Pathogenic/Likely pathogenic 0 -99476 Simple 61753046 A . Pathogenic 2 2 Stargardt disease 1;not provided;Cone/cone-rod dystrophy 2018-01-03 11.4 1.0 Pathogenic/Likely pathogenic 1 -99491 Simple 1800717 G . Benign 2 6 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -31.8 2.1666666666666665 Benign 0 -99494 Simple 6666652 A . Benign/Likely benign 2 7 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-15 -37.8 2.0 Benign 1 -99505 Simple 62645944 A . Pathogenic/Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-09-16 11.4 1.5 Pathogenic/Likely pathogenic 0 -99527 Simple 61754381 A . Pathogenic/Likely pathogenic 2 6 Tyrosinase-negative oculocutaneous albinism;Oculocutaneous albinism type 1B;Albinism, ocular, with sensorineural deafness;Skin/hair/eye pigmentation, variation in, 3;not provided;Oculocutaneous albinism 2017-08-24 31.8 1.0 Pathogenic 1 -99542 Simple 62645917 T . Pathogenic 2 2 Tyrosinase-negative oculocutaneous albinism;not provided 2016-07-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -99592 Simple 62128766 T . Benign 2 3 Leber congenital amaurosis;not specified;not provided;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -99597 Simple 61748438 A . Benign/Likely benign 2 3 Leber congenital amaurosis;not specified;not provided 2017-05-09 -15.0 0.6666666666666666 Benign/Likely benign 0 -99604 Simple 61748441 A . Benign/Likely benign 2 6 Leber congenital amaurosis;not specified;not provided;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant 2016-11-20 -24.6 1.6666666666666667 Benign 1 -99608 Simple 61748445 A . Benign/Likely benign 2 5 Leber congenital amaurosis 7;Cone-rod dystrophy 2;Leber congenital amaurosis;not specified;not provided;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant 2017-02-02 -19.8 1.4 Benign/Likely benign 0 -99657 Simple 17078894 A . Benign/Likely benign 2 2 not specified;not provided 2016-01-25 -8.100000000000001 2.0 Likely benign 1 -99671 Simple 2064317 G . Benign/Likely benign 2 4 Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Recessive 2016-09-16 -17.4 1.25 Benign/Likely benign 0 -99678 Simple 1800007 C . Benign 2 5 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-15 -28.8 1.4 Benign 0 -99680 Simple 1800008 T . Benign 2 5 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;not provided;Iron Overload;Retinitis Pigmentosa, Recessive 2016-06-14 -28.8 1.4 Benign 0 -99682 Simple 1800009 C . Benign 2 6 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;not provided;Iron Overload;Retinitis Pigmentosa, Recessive 2016-06-15 -34.8 1.3333333333333333 Benign 0 -99691 Simple 1801393 C . Benign 2 4 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -99693 Simple 1109748 A . Benign 2 5 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-15 -28.8 1.4 Benign 0 -99725 Simple 200277476 T . Likely pathogenic 2 2 Bestrophinopathy, autosomal recessive;not provided 2017-03-27 6.0 0.5 Likely pathogenic 0 -99727 Simple 74653691 A . Benign/Likely benign 2 4 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -99735 Simple 281865238 T . Pathogenic/Likely pathogenic 2 2 Vitelliform macular dystrophy type 2;not provided 2015-04-08 7.800000000000001 2.5 Likely pathogenic 1 -99794 Simple 12449580 G . Benign/Likely benign 2 3 Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -99796 Simple 12453262 G . Benign/Likely benign 2 4 Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -99801 Simple 8069375 A . Benign/Likely benign 2 4 Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -99805 Simple 2292546 C . Benign/Likely benign 2 3 Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -99812 Simple 9322965 A . Benign/Likely benign 2 3 Leber congenital amaurosis;not specified;not provided;Cone-Rod Dystrophy, Recessive 2016-10-21 -12.0 1.0 Benign/Likely benign 0 -99816 Simple 62646879 T . Benign 2 2 Cone-rod dystrophy 13;Leber congenital amaurosis 6;not specified;not provided 2017-02-02 -12.0 1.0 Benign/Likely benign 1 -99819 Simple 1040904 A . Benign/Likely benign 2 2 Leber congenital amaurosis;not specified;not provided;Cone-Rod Dystrophy, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -99826 Simple 17792599 G . Benign/Likely benign 2 2 Leber congenital amaurosis;not specified;not provided;Cone-Rod Dystrophy, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -99827 Simple 6571751 G . Benign 2 2 Leber congenital amaurosis;not specified;not provided;Cone-Rod Dystrophy, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -99850 Simple 62640570 TT . Pathogenic 2 3 Meckel-Gruber syndrome;Joubert syndrome 5;not provided 2017-05-15 15.0 2.3333333333333335 Pathogenic 0 -99878 Simple 62636287 A . Benign/Likely benign 2 5 Pigmented paravenous chorioretinal atrophy;Retinitis pigmentosa 12;Leber congenital amaurosis 8;Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Recessive 2017-06-19 -19.8 1.2 Benign/Likely benign 0 -99888 Simple 62636273 A . Pathogenic 2 3 Retinitis pigmentosa 12;Leber congenital amaurosis 8;not provided;Macular dystrophy 2017-04-24 16.8 1.0 Pathogenic 0 -99906 Simple 62636285 A . Benign/Likely benign 2 4 Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -99917 Simple 62636263 T . Likely benign 2 2 Retinitis pigmentosa 12;Leber congenital amaurosis 8;Leber congenital amaurosis;not provided 2017-08-10 -6.0 0.5 Likely benign 0 -99920 Simple 80358367 T . Pathogenic 2 2 Cornelia de Lange syndrome 1 2015-04-15 9.0 3.5 Pathogenic/Likely pathogenic 1 -99924 Simple 80358350 T . Benign/Likely benign 2 5 not specified;Cornelia de Lange Syndrome 2017-02-02 -21.0 3.0 Benign/Likely benign 0 -99939 Simple 80358384 G . Likely pathogenic 2 2 Cornelia de Lange syndrome 1;not provided 2016-08-31 4.8 3.0 Likely pathogenic 0 -99942 Simple 80358368 - . Pathogenic 2 2 Cornelia de Lange syndrome 1;not provided 2016-03-11 9.6 3.0 Pathogenic/Likely pathogenic 1 -100009 Simple 137852870 A . Pathogenic 2 4 Maple syrup urine disease;Maple syrup urine disease type 1A;not provided 2017-07-05 21.0 1.75 Pathogenic 0 -100057 Simple 5030868 A . Pathogenic/Likely pathogenic, other 2 6 Favism, susceptibility to;Glucose 6 phosphate dehydrogenase deficiency;Susceptibility to malaria;G6pd a-;G6PD MEDITERRANEAN;G6PD SASSARI;G6PD CAGLIARI;Anemia, nonspherocytic hemolytic, due to G6PD deficiency;not provided 2017-09-11 29.1 2.0 Pathogenic 1 -100058 Simple 72554665 A . Pathogenic, other 2 3 Glucose 6 phosphate dehydrogenase deficiency;G6pd a-;G6PD CANTON;G6PD GIFU;G6PD AGRIGENTO;G6PD TAIWAN-HAKKA;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2017-05-24 16.8 1.6666666666666667 Pathogenic 0 -100059 Simple 72554664 T . Pathogenic, other 2 2 G6PD KAIPING;G6PD ANANT;G6PD DHON;G6PD PETRICH-LIKE;G6PD SAPPORO-LIKE;Anemia, nonspherocytic hemolytic, due to G6PD deficiency;not specified 2017-05-24 10.2 2.5 Pathogenic/Likely pathogenic 1 -100060 Simple 28940889 T . Pathogenic/Likely pathogenic 2 7 Isovaleryl-CoA dehydrogenase deficiency;not provided 2017-06-29 37.2 1.0 Pathogenic 1 -100080 Simple 1801160 T . Benign/Likely benign 2 3 Dihydropyrimidine dehydrogenase deficiency;not specified;not provided 2017-06-16 -15.0 0.6666666666666666 Benign/Likely benign 0 -100085 Simple 137852769 G . Pathogenic 2 7 Mitochondrial trifunctional protein deficiency;Trifunctional protein deficiency with myopathy and neuropathy;Lchad deficiency with maternal acute fatty liver of pregnancy;Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided;LCHAD Deficiency 2017-07-28 39.6 1.1428571428571428 Pathogenic 0 -100088 Simple 17376848 G . Benign/Likely benign 2 1 Dihydropyrimidine dehydrogenase deficiency;not specified;not provided 2016-06-14 . 1.0 . 0 -100092 Simple 1801159 C . Benign/Likely benign 2 2 Dihydropyrimidine dehydrogenase deficiency;not specified;not provided 2016-06-14 -7.8 2.0 Likely benign 1 -100103 Simple 56293913 G . Benign/Likely benign 2 1 Dihydropyrimidine dehydrogenase deficiency;not specified;not provided 2016-06-14 . 1.0 . 0 -100116 Simple 2297595 C . drug response 3 2 Dihydropyrimidine dehydrogenase deficiency;not specified;not provided;capecitabine response - Toxicity/ADR;fluorouracil response - Toxicity/ADR . -9.0 1.0 . 0 -100127 Simple 1801019 C . drug response 3 1 Orotic aciduria;not specified;not provided;capecitabine response - Toxicity/ADR;fluorouracil response - Toxicity/ADR;leucovorin response - Toxicity/ADR;tegafur response - Toxicity/ADR . . 1.0 . 0 -100188 Simple 150146744 A . Likely benign 2 3 von Willebrand disorder;not specified;not provided 2017-03-22 -9.0 0.6666666666666666 Benign/Likely benign 1 -100206 Simple 2228317 T . Benign/Likely benign 2 3 von Willebrand disorder;not specified;not provided 2016-11-04 -13.8 1.6666666666666667 Benign/Likely benign 0 -100224 Simple 57950734 T . Benign/Likely benign 2 4 von Willebrand disorder;not specified;not provided 2017-04-25 -18.0 0.5 Benign/Likely benign 0 -100369 Simple 61750100 A . Likely pathogenic 2 2 not provided 2017-07-10 6.0 0.0 Likely pathogenic 0 -100436 Simple 61750615 A . Benign/Likely benign 2 3 von Willebrand disorder;not specified;not provided 2016-06-14 -11.4 1.6666666666666667 Benign/Likely benign 0 -100443 Simple 2229446 T . Benign/Likely benign 2 1 von Willebrand disorder;not specified;not provided 2016-06-14 . 1.0 . 0 -100558 Simple 117704637 A . Benign/Likely benign 2 3 not specified;not provided;Retinitis Pigmentosa, Dominant 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -100560 Simple 111631988 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified;not provided 2017-08-12 -16.2 1.6666666666666667 Benign/Likely benign 0 -100564 Simple 10027479 C . Benign/Likely benign 2 4 Bardet-Biedl syndrome;not specified;not provided 2017-08-07 -21.0 0.5 Benign/Likely benign 0 -100565 Simple 28507107 A . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified;not provided 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -100578 Simple 55708318 A . Benign/Likely benign 2 4 not specified;not provided;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -100581 Simple 2230517 A . Benign/Likely benign 2 2 not specified;not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -100586 Simple 137853909 C . Benign/Likely benign 2 5 Bardet-Biedl syndrome;McKusick Kaufman syndrome;not specified;not provided 2017-06-16 -19.8 1.2 Benign/Likely benign 0 -100591 Simple 137853913 G . Uncertain significance 2 2 Bardet-Biedl syndrome;not provided 2017-03-09 -0.6 0.5 Uncertain significance 0 -100592 Simple 79705698 C . Benign/Likely benign 2 7 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified;not provided 2017-08-09 -25.8 1.1428571428571428 Benign 1 -100593 Simple 11104738 C . Benign/Likely benign 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified;not provided 2016-06-14 -34.8 1.3333333333333333 Benign 1 -100594 Simple 75220808 C . Benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified;not provided 2017-05-16 -10.8 1.5 Benign/Likely benign 1 -100595 Simple 16957538 A . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified;not provided 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -100606 Simple 76224631 C . Benign/Likely benign 2 1 Cone dystrophy 3;not specified;not provided 2016-06-14 . 1.0 . 0 -100607 Simple 33972365 T . Benign 2 1 Cone dystrophy 3;not specified;not provided 2016-06-14 . 1.0 . 0 -100608 Simple 137853922 T . Benign 2 1 Bardet-Biedl syndrome;not specified;not provided 2017-07-26 . 0.0 . 0 -100609 Simple 59691602 T . Benign/Likely benign 2 4 Pigmented paravenous chorioretinal atrophy;Retinitis pigmentosa 12;Leber congenital amaurosis 8;Leber congenital amaurosis;not provided;Retinitis Pigmentosa, Recessive 2017-04-18 -15.0 0.75 Benign/Likely benign 0 -100746 Simple 2230529 T . Benign 2 2 Leukocyte adhesion deficiency type 1;Leukocyte adhesion deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -100760 Simple 5030670 T . Benign/Likely benign 2 2 Leukocyte adhesion deficiency type 1;Leukocyte adhesion deficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -100761 Simple 2230528 T . Benign 2 2 Leukocyte adhesion deficiency type 1;Leukocyte adhesion deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -100815 Simple 483352695 C . Pathogenic/Likely pathogenic 2 2 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-28 9.0 1.0 Pathogenic/Likely pathogenic 0 -100940 Simple 12480307 C . Benign 2 1 not specified;Posterior Polymorphous Corneal Dystrophy 2016-06-14 . 1.0 . 0 -101269 Simple 587779535 A . Pathogenic 2 2 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not provided 2017-06-06 12.0 0.5 Pathogenic/Likely pathogenic 1 -101297 Simple 587779584 A . Pathogenic 2 2 Ehlers-Danlos syndrome, type 4;not provided 2017-03-22 10.2 2.0 Pathogenic/Likely pathogenic 1 -101349 Simple 587779625 A . Pathogenic 2 2 Ehlers-Danlos syndrome, type 4;not provided 2016-08-26 10.8 2.0 Pathogenic/Likely pathogenic 1 -101514 Simple 371443644 T . Pathogenic 2 2 Familial hypokalemia-hypomagnesemia;not provided 2016-08-31 12.0 1.0 Pathogenic/Likely pathogenic 1 -102475 Simple 63581460 - . Pathogenic 2 2 Phenylketonuria;not provided 2017-03-28 12.0 0.5 Pathogenic/Likely pathogenic 1 -102484 Simple 62516062 A . Pathogenic 2 2 not provided 2017-05-24 10.8 1.5 Pathogenic/Likely pathogenic 1 -102498 Simple 62516094 - . Pathogenic 2 2 Phenylketonuria;not provided 2016-08-25 12.0 1.0 Pathogenic/Likely pathogenic 1 -102518 Simple 5030654 - . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2017-01-24 8.4 2.0 Pathogenic/Likely pathogenic 0 -102538 Simple 62516141 C . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2015-05-26 7.800000000000001 2.5 Likely pathogenic 1 -102555 Simple 62508613 T . Likely pathogenic 2 3 Phenylketonuria;not provided 2017-11-10 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -102557 Simple 62509015 G . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2016-12-21 13.8 2.0 Pathogenic/Likely pathogenic 0 -102577 Simple 1801152 A . Benign/Likely benign 2 3 Phenylketonuria;not specified;not provided 2017-05-08 -13.5 1.6666666666666667 Benign/Likely benign 0 -102606 Simple 62507288 G . Pathogenic 2 2 Phenylketonuria;not provided 2017-04-03 11.4 1.0 Pathogenic/Likely pathogenic 1 -102632 Simple 62642094 - . Pathogenic 2 2 Phenylketonuria;not provided 2017-02-22 11.4 1.5 Pathogenic/Likely pathogenic 1 -102650 Simple 62642929 T . Pathogenic 2 2 Phenylketonuria;not provided 2017-09-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -102667 Simple 140175796 A . Pathogenic 2 2 Phenylketonuria;not provided 2017-07-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -102671 Simple 62517166 T . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2015-01-26 7.199999999999999 3.0 Likely pathogenic 1 -102693 Simple 75166491 A . Pathogenic 2 2 Phenylketonuria;not provided 2017-05-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -102696 Simple 62642906 - . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2015-01-26 7.199999999999999 3.0 Likely pathogenic 1 -102723 Simple 199475575 A . Pathogenic 2 3 Phenylketonuria;not provided 2017-08-04 16.2 1.6666666666666667 Pathogenic 0 -102736 Simple 62507336 T . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2017-12-27 8.4 1.5 Pathogenic/Likely pathogenic 0 -102742 Simple 5030844 G . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2017-05-05 9.0 0.5 Pathogenic/Likely pathogenic 0 -102751 Simple 62514895 A . Pathogenic 2 3 Phenylketonuria;not provided 2017-08-29 16.8 1.3333333333333333 Pathogenic 0 -102784 Simple 62516152 T . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2017-08-04 14.7 1.0 Pathogenic/Likely pathogenic 0 -102788 Simple 62507348 A . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2017-05-19 8.4 1.5 Pathogenic/Likely pathogenic 0 -102795 Simple 62508624 A . Benign/Likely benign 2 4 Phenylketonuria;not specified;not provided 2017-03-30 -15.6 2.0 Benign/Likely benign 0 -102803 Simple 76687508 A . Pathogenic 2 4 Phenylketonuria;not provided 2017-03-28 24.0 0.75 Pathogenic 0 -102804 Simple 62508730 T . Pathogenic 2 3 Phenylketonuria;not provided 2017-11-06 18.0 0.3333333333333333 Pathogenic 0 -102821 Simple 74503222 A . Pathogenic 2 4 Phenylketonuria;not provided 2016-12-13 22.2 1.75 Pathogenic 0 -102824 Simple 62644503 T . Pathogenic 2 2 Phenylketonuria;not provided 2016-12-21 11.4 1.5 Pathogenic/Likely pathogenic 1 -102844 Simple 62508687 - . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2017-05-02 12.9 2.0 Pathogenic/Likely pathogenic 0 -102846 Simple 62514950 T . Pathogenic 2 2 Phenylketonuria;not provided 2017-06-13 10.2 2.0 Pathogenic/Likely pathogenic 1 -102872 Simple 62516146 T . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2015-12-02 10.2 2.6666666666666665 Pathogenic/Likely pathogenic 0 -102876 Simple 62517168 A . Pathogenic/Likely pathogenic 2 2 Phenylketonuria;not provided 2017-04-27 8.4 1.5 Pathogenic/Likely pathogenic 0 -110040 Simple 201391886 A . Uncertain significance 2 3 not specified;not provided 2016-10-31 -0.81 2.0 Uncertain significance 0 -120171 Simple 2279343 G . drug response 3 0 Efavirenz response;efavirenz response - Metabolism/PK . . . . 0 -120176 Simple 587777219 A . Pathogenic/Likely pathogenic 2 3 Early infantile epileptic encephalopathy 7;not provided;KCNQ2-Related Disorders 2017-06-27 15.0 0.6666666666666666 Pathogenic 1 -120179 Simple 587777222 C . Pathogenic/Likely pathogenic 2 2 Spastic paraplegia 5A;not provided;Spastic paraplegia 2016-11-24 9.0 1.0 Pathogenic/Likely pathogenic 0 -120238 Simple 117452684 A . Benign/Likely benign 2 2 not specified;Hypotension 2016-03-29 -8.4 1.5 Benign/Likely benign 0 -120246 Simple 397516828 A . Pathogenic/Likely pathogenic 2 2 Noonan syndrome 5;Noonan syndrome;not provided 2017-08-01 10.2 2.0 Pathogenic/Likely pathogenic 0 -120250 Simple 483352822 T . Pathogenic 2 2 Noonan syndrome;not provided;Noonan syndrome 8 2016-09-22 11.4 1.5 Pathogenic/Likely pathogenic 1 -120256 Simple 61921916 A . Benign 2 2 not specified;not provided 2017-01-06 -12.0 1.0 Benign/Likely benign 1 -125465 Simple 80357587 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125467 Simple 201866997 G . Benign/Likely benign 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-01 -16.2 2.0 Benign/Likely benign 0 -125468 Simple 3765640 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -125477 Simple 80357726 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125481 Simple 80357775 G . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125486 Simple 80357665 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125488 Simple 80357776 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125491 Simple 80359871 . . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -125495 Simple 80357939 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125499 Simple 80357592 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125500 Simple 80357778 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125501 Simple 80357599 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -125503 Simple 80357947 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -125504 Simple 273897663 TA . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -125507 Simple 273897664 CC . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided 2016-09-08 21.6 2.25 Pathogenic 0 -125508 Simple 80357784 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -125511 Simple 80357536 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125512 Simple 80357536 GACA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -125513 Simple 80357927 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 34.8 1.3333333333333333 Pathogenic 0 -125516 Simple 80358010 G . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-04-12 8.4 1.5 Pathogenic/Likely pathogenic 0 -125528 Simple 80357768 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125532 Simple 80357940 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125535 Simple 80357595 TA . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -125536 Simple 1799949 A . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -64.68 2.3076923076923075 Benign 0 -125539 Simple 483353086 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125542 Simple 80357566 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -125546 Simple 80357574 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125547 Simple 80357930 AG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125548 Simple 80357802 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -125552 Simple 80357681 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -125554 Simple 16940 G . Benign 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -60.480000000000004 2.1666666666666665 Benign 0 -125555 Simple 80357515 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125556 Simple 80357990 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125560 Simple 80357913 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125567 Simple 80358065 C . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-01 17.4 2.5 Pathogenic 1 -125568 Simple 80357503 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125570 Simple 80357734 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -125571 Simple 80357830 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125575 Simple 80357675 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125579 Simple 80357541 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -125581 Simple 273899687 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125589 Simple 80357660 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -125590 Simple 80357998 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125593 Simple 80357929 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -125594 Simple 80357693 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125595 Simple 80357890 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -125597 Simple 273899692 TA . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -125601 Simple 80357746 CC . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -125603 Simple 80357547 TCTCA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -125607 Simple 273899700 TC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125609 Simple 80357769 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125614 Simple 799912 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -125620 Simple 80357764 TC . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -125624 Simple 41293449 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -125629 Simple 80357996 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125630 Simple 80357785 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 1 2016-09-08 21.0 1.25 Pathogenic 0 -125631 Simple 80357827 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125632 Simple 80357857 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -125634 Simple 273899684 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125636 Simple 80357956 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125642 Simple 80357926 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125644 Simple 80357831 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125649 Simple 80357704 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125650 Simple 80357810 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125653 Simple 80357849 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125655 Simple 80357878 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125657 Simple 80357560 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125658 Simple 80357634 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -125661 Simple 483353092 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -125667 Simple 80358116 A . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-01-19 8.4 1.5 Pathogenic/Likely pathogenic 0 -125673 Simple 80358072 G . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-08-10 -17.64 1.0 Benign/Likely benign 1 -125674 Simple 799916 G . Benign 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -125678 Simple 80357529 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125679 Simple 80357935 AGAT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125680 Simple 80357861 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-04-22 24.0 1.25 Pathogenic 0 -125681 Simple 80357921 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -125682 Simple 80357788 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125683 Simple 80357847 CT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125698 Simple 273900728 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125700 Simple 80357716 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125701 Simple 80357556 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125703 Simple 1060915 G . Benign 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -59.88 2.25 Benign 0 -125708 Simple 3737559 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -125710 Simple 80358111 A . Benign/Likely benign 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -25.5 2.3333333333333335 Benign 1 -125712 Simple 80357620 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125725 Simple 80358008 T . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-30 11.100000000000001 1.6666666666666667 Pathogenic/Likely pathogenic 0 -125726 Simple 80358096 C . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-02-03 12.0 1.0 Pathogenic/Likely pathogenic 0 -125728 Simple 483353095 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -125729 Simple 273901741 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-03 -0.6 1.0 Uncertain significance 0 -125730 Simple 80357795 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125732 Simple 80357615 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125733 Simple 80357656 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125737 Simple 80357655 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125746 Simple 8176234 C . Benign 3 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -10.08 3.0 Benign/Likely benign 1 -125749 Simple 8176233 C . Benign 3 1 Breast-ovarian cancer, familial 1;not specified 2015-01-12 . 3.0 . 0 -125756 Simple 80357974 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125760 Simple 8176258 A . Benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -20.880000000000003 2.5 Benign/Likely benign 1 -125763 Simple 483353099 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125765 Simple 80357870 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125768 Simple 80358094 T . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -125782 Simple 8176259 - . Benign 3 1 Breast-ovarian cancer, familial 1;not specified 2015-01-12 . 3.0 . 0 -125783 Simple 45471406 C . Benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -17.34 1.25 Benign/Likely benign 1 -125807 Simple 80357791 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125820 Simple 80357959 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125832 Simple 80357744 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125833 Simple 80359878 . . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125842 Simple 8176307 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -125843 Simple 55946644 G . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -59.88 2.230769230769231 Benign 0 -125845 Simple 80358029 T . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-03-23 11.4 1.5 Pathogenic/Likely pathogenic 1 -125846 Simple 80358029 G . Pathogenic 2 2 Breast-ovarian cancer, familial 1;not provided 2015-10-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -125850 Simple 273902769 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125851 Simple 80358009 G . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-05-08 8.4 1.0 Pathogenic/Likely pathogenic 0 -125856 Simple 80358048 T . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-05-05 8.4 1.5 Pathogenic/Likely pathogenic 0 -125861 Simple 80357976 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125864 Simple 799923 A . Benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -20.880000000000003 2.5 Benign/Likely benign 1 -125867 Simple 80359873 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -125873 Simple 3092995 C . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2015-01-12 -23.580000000000002 2.1666666666666665 Benign/Likely benign 1 -125874 Simple 80357882 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -125879 Simple 8176140 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -125881 Simple 80358030 T . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 8.7 0.6666666666666666 Pathogenic/Likely pathogenic 0 -125889 Simple 8176144 - . Benign 3 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -10.68 2.5 Benign/Likely benign 1 -125908 Simple 80358020 A . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-10-02 7.5 3.0 Likely pathogenic 1 -125927 Simple 15869 C . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2015-01-12 -17.28 1.6666666666666667 Benign/Likely benign 1 -125928 Simple 276174914 GATACTTCAG . Pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-23 23.4 0.75 Pathogenic 0 -125931 Simple 276174931 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125933 Simple 276174805 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -125935 Simple 276174806 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -125936 Simple 80359266 TTAG . Pathogenic 3 2 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -125937 Simple 80359269 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -125942 Simple 80359282 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -125943 Simple 1801439 G . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -67.68 2.3076923076923075 Benign 0 -125945 Simple 80359284 GG . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -125947 Simple 28897709 G . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -31.740000000000002 1.0 Benign 0 -125948 Simple 80359288 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -125949 Simple 276174811 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -125951 Simple 80359296 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125965 Simple 1799943 A . Benign 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -41.88 2.375 Benign 0 -125970 Simple 80359313 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125976 Simple 76874770 T . Benign 3 14 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -59.58 2.2142857142857144 Benign 0 -125978 Simple 80359325 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.3333333333333333 Pathogenic 0 -125979 Simple 1801499 C . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -67.68 2.3076923076923075 Benign 0 -125980 Simple 80359400 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -125981 Simple 276174822 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -125984 Simple 80359445 ATT . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-09 -1.1400000000000001 1.25 Uncertain significance 0 -125985 Simple 80359332 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125988 Simple 483353111 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -125989 Simple 80358524 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.87 1.0 Uncertain significance 0 -125992 Simple 276174829 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.4 1.2 Benign/Likely benign 1 -125993 Simple 80359637 . . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 15.0 1.6666666666666667 Pathogenic 0 -125995 Simple 80359355 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -125997 Simple 80359359 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -125998 Simple 80359361 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -125999 Simple 80359364 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126001 Simple 80358543 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -126003 Simple 80359369 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -126005 Simple 80359262 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126007 Simple 80358579 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -126010 Simple 1801406 G . Benign 3 14 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -75.48 1.9285714285714286 Benign 0 -126014 Simple 80359386 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -126022 Simple 543304 C . Benign 3 13 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -69.48 2.076923076923077 Benign 0 -126023 Simple 543304 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -126027 Simple 276174837 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8999999999999999 0.0 Uncertain significance 0 -126029 Simple 80358647 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -126031 Simple 80359419 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126032 Simple 80359420 CATC . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -126033 Simple 276174839 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126035 Simple 276174841 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -126036 Simple 80359422 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126037 Simple 80359429 TGAGGA . Pathogenic 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 41.4 1.1428571428571428 Pathogenic 0 -126045 Simple 80358679 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -126049 Simple 483353115 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -126053 Simple 80359467 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126055 Simple 80359471 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126057 Simple 80359476 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126059 Simple 80359482 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -126063 Simple 80359498 - . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -126064 Simple 80359500 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126065 Simple 80359502 . . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 27.0 1.2 Pathogenic 0 -126069 Simple 80359517 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126072 Simple 41293497 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -126082 Simple 80359546 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126088 Simple 80358842 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.44 1.2 Uncertain significance 0 -126089 Simple 483353117 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -126091 Simple 80359566 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126093 Simple 80359568 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126095 Simple 11571610 C . Benign 3 1 Breast-ovarian cancer, familial 2;not specified 2015-01-12 . 3.0 . 0 -126098 Simple 3783265 C . Benign 3 1 Breast-ovarian cancer, familial 2;not specified 2015-01-12 . 3.0 . 0 -126099 Simple 80359579 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126100 Simple 80359580 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -126102 Simple 276174872 TA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126109 Simple 80359601 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126110 Simple 80359606 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126113 Simple 80358892 G . Pathogenic 3 2 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126114 Simple 80359618 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126122 Simple 11571661 - . Benign 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -10.98 1.6666666666666667 Benign/Likely benign 1 -126124 Simple 120074205 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -126132 Simple 483353118 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -126133 Simple 1799955 G . Benign 3 14 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -74.88 2.0714285714285716 Benign 0 -126134 Simple 483353119 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126135 Simple 80359647 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -126136 Simple 11147489 T . Benign 3 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -10.08 3.0 Benign/Likely benign 1 -126137 Simple 483353120 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -126140 Simple 80359666 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 1.75 Pathogenic 0 -126141 Simple 80359667 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126153 Simple 80359668 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126155 Simple 80359676 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -126156 Simple 80359798 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -126157 Simple 80359681 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126158 Simple 9534262 C . Benign 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -80.28 1.9333333333333333 Benign 0 -126160 Simple 80359684 GACAGACA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -126162 Simple 276174897 AG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -126167 Simple 80359065 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -6.0 1.0 Likely benign 0 -126169 Simple 483353122 AG . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126170 Simple 80359697 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126173 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 2;not provided 2016-11-03 11.4 1.5 Pathogenic/Likely pathogenic 1 -126174 Simple 276174904 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 23.4 1.25 Pathogenic 0 -126178 Simple 11571743 G . Benign 3 12 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -54.480000000000004 2.25 Benign 0 -126179 Simple 11571744 T . Benign 3 3 Breast-ovarian cancer, familial 2;not specified 2015-01-12 -15.48 2.6666666666666665 Benign/Likely benign 1 -126181 Simple 80359105 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-21 -0.87 1.3333333333333333 Uncertain significance 0 -126183 Simple 80359719 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -126188 Simple 483353124 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-01-20 -0.54 2.0 Uncertain significance 0 -126189 Simple 80359727 TTACTTAC . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -126190 Simple 4942486 C . Benign 3 1 Breast-ovarian cancer, familial 2;not specified 2015-01-12 . 3.0 . 0 -126192 Simple 2126042 T . Benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -16.08 2.0 Benign/Likely benign 1 -126195 Simple 80359148 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -126198 Simple 80359745 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126200 Simple 80359747 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126201 Simple 80359749 TACTAC . Uncertain significance 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -1.74 1.0 Uncertain significance 0 -126202 Simple 587778130 AAGAAG . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.2 0.25 Uncertain significance 0 -126203 Simple 80359187 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-10 -0.51 2.5 Uncertain significance 0 -126207 Simple 9595456 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -126210 Simple 80359758 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -126211 Simple 80359215 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2016-07-01 -0.6 1.0 Uncertain significance 0 -126213 Simple 80359765 AGAG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -126217 Simple 80359773 AA . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 46.8 1.125 Pathogenic 0 -126227 Simple 16892095 C . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -126228 Simple 144439937 G . Benign/Likely benign 2 5 Joubert syndrome;Meckel-Gruber syndrome;not specified;not provided 2017-07-11 -21.3 1.8 Benign/Likely benign 0 -126229 Simple 1861050 T . Benign/Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -126234 Simple 187003641 A . Uncertain significance 2 3 COACH syndrome;Meckel-Gruber syndrome;Meckel syndrome type 6;Joubert syndrome 9;not specified 2017-05-23 -0.78 2.0 Uncertain significance 0 -126236 Simple 13121363 C . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-07-24 -18.0 0.6666666666666666 Benign/Likely benign 0 -126237 Simple 73125627 A . Benign/Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -126240 Simple 61734948 A . Benign/Likely benign 2 1 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-06-30 . 0.0 . 0 -126247 Simple 62000428 A . Benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-10-21 -17.4 1.3333333333333333 Benign/Likely benign 1 -126248 Simple 2286976 T . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -126251 Simple 190383141 A . Benign/Likely benign 2 8 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified 2017-07-06 -31.8 1.125 Benign 1 -126252 Simple 7970228 C . Benign/Likely benign 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified 2017-07-28 -21.0 0.8333333333333334 Benign/Likely benign 0 -126257 Simple 7307793 T . Benign/Likely benign 2 7 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified 2017-08-15 -25.2 1.2857142857142858 Benign 1 -126258 Simple 117122459 C . Benign/Likely benign 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified 2017-08-15 -21.0 0.8333333333333334 Benign/Likely benign 0 -126259 Simple 113132803 T . Benign/Likely benign 2 1 not specified 2014-05-21 . 3.0 . 0 -126262 Simple 61941020 T . Benign/Likely benign 2 8 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified;not provided 2017-07-21 -29.4 1.0 Benign 1 -126263 Simple 7973969 T . Benign/Likely benign 2 2 not specified 2015-08-27 -9.600000000000001 3.0 Benign/Likely benign 0 -126266 Simple 7971699 A . Benign/Likely benign 2 1 not specified 2014-01-30 . 4.0 . 0 -126269 Simple 45502896 G . Benign/Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified;not provided 2017-08-14 -10.8 1.5 Benign/Likely benign 0 -126272 Simple 11548967 G . Benign/Likely benign 2 3 Bardet-Biedl syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -126274 Simple 3826300 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -126277 Simple 2111119 T . Benign/Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -126278 Simple 113083177 - . Benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-12-29 -10.2 2.5 Benign/Likely benign 1 -126279 Simple 3213758 T . Benign/Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified;not provided 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -126280 Simple 4784320 A . Benign/Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -126282 Simple 7137946 C . Benign/Likely benign 2 1 not specified 2016-01-08 . 2.0 . 0 -126283 Simple 7966867 C . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -126285 Simple 7298440 T . Benign/Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -16.2 1.75 Benign/Likely benign 0 -126286 Simple 112158562 C . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;Cutis laxa, recessive;not specified 2017-04-05 -15.0 0.6666666666666666 Benign/Likely benign 0 -126287 Simple 73416301 T . Benign/Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-08-08 -17.4 1.0 Benign/Likely benign 0 -126288 Simple 79251326 A . Benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -126291 Simple 73416299 T . Benign/Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-08-08 -17.4 1.0 Benign/Likely benign 0 -126292 Simple 73418153 G . Benign/Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-08-08 -17.4 1.0 Benign/Likely benign 0 -126294 Simple 7313032 A . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -126295 Simple 77804131 T . Benign/Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-04-05 -12.0 0.5 Benign/Likely benign 0 -126296 Simple 3741265 A . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -126297 Simple 10897158 C . Benign 2 5 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-01-19 -27.0 2.0 Benign 0 -126301 Simple 3134031 G . Benign/Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-07-26 -24.0 0.75 Benign 1 -126302 Simple 116445698 T . Benign/Likely benign 2 4 not specified;not provided 2016-07-22 -15.600000000000001 2.0 Benign/Likely benign 0 -126304 Simple 117195541 C . Benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-05-07 -10.2 2.0 Benign/Likely benign 1 -126307 Simple 35793208 A . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-04-19 -16.2 1.6666666666666667 Benign/Likely benign 0 -126327 Simple 587779743 GCAGCA . Benign/Likely benign 2 3 not specified;not provided 2017-03-17 -11.4 1.3333333333333333 Benign/Likely benign 0 -126329 Simple 587779744 GCAGCAGCAGCA . Benign/Likely benign 2 2 not specified;not provided 2016-05-19 -7.8 2.0 Likely benign 1 -126341 Simple 10964468 A . Benign 2 2 Nicolaides-Baraitser syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -126342 Simple 138404604 G . Benign/Likely benign 2 2 Nicolaides-Baraitser syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -126344 Simple 10964471 A . Benign 2 2 Nicolaides-Baraitser syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -126345 Simple 13288443 G . Benign 2 2 Nicolaides-Baraitser syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -126351 Simple 62534884 C . Benign 2 3 Nicolaides-Baraitser syndrome;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -126355 Simple 140192268 C . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-14 -20.4 1.0 Benign/Likely benign 0 -126356 Simple 17001073 A . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-20 -23.4 1.0 Benign/Likely benign 0 -126357 Simple 115492175 T . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Coffin-Siris syndrome 2017-08-15 -18.0 0.6666666666666666 Benign/Likely benign 0 -126358 Simple 17001075 G . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-20 -20.4 1.0 Benign/Likely benign 0 -126359 Simple 7935 C . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -126362 Simple 28997582 T . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -126363 Simple 139505007 T . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-08 -17.4 0.75 Benign/Likely benign 0 -126364 Simple 9105 T . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-18 -22.8 1.25 Benign/Likely benign 0 -126365 Simple 7275 C . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -126366 Simple 149573400 A . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-21 -17.4 1.0 Benign/Likely benign 0 -126367 Simple 146141457 A . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-10-02 -20.4 0.75 Benign/Likely benign 0 -126368 Simple 2229354 A . Benign 2 6 not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome;Schwannomatosis;Rhabdoid tumor 2016-06-14 -34.2 1.5 Benign 0 -126418 Simple 200482683 T . Pathogenic/Likely pathogenic, risk factor 2 2 Nephrotic syndrome, idiopathic, steroid-resistant;Nephrotic syndrome, type 2, susceptibility to 2016-07-29 8.4 2.0 Pathogenic/Likely pathogenic 0 -126421 Simple 587777264 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 14;not provided 2017-09-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -126578 Simple 8053188 T . Benign 2 2 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -126586 Simple 515726060 - . Pathogenic 2 5 Familial cancer of breast;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2017-10-04 30.0 0.4 Pathogenic 0 -126587 Simple 180177099 - . Pathogenic 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-12 18.0 0.3333333333333333 Pathogenic 0 -126590 Simple 202194596 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.5 0.2 Uncertain significance 0 -126591 Simple 515726063 A . Uncertain significance 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.71 1.3333333333333333 Uncertain significance 0 -126592 Simple 61755173 T . Benign/Likely benign 2 8 Familial cancer of breast;Fanconi anemia;Pancreatic cancer 3;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -29.7 1.625 Benign 1 -126598 Simple 515726067 - . Pathogenic 2 6 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-04-20 35.4 1.0 Pathogenic 0 -126600 Simple 377085677 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -1.17 0.5 Uncertain significance 0 -126601 Simple 62625275 G . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -23.400000000000002 2.1666666666666665 Benign/Likely benign 0 -126602 Simple 515726068 A . Likely benign 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-25 -11.1 1.5 Benign/Likely benign 1 -126604 Simple 45612837 A . Benign/Likely benign 2 8 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -27.0 1.625 Benign 1 -126606 Simple 515726071 - . Pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-03-06 29.4 1.0 Pathogenic 0 -126608 Simple 45472400 C . Benign/Likely benign 2 11 Familial cancer of breast;Fanconi anemia;Pancreatic cancer 3;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-17 -45.0 1.2727272727272727 Benign 1 -126609 Simple 180177102 - . Pathogenic, risk factor 2 5 Familial cancer of breast;Breast cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 28.2 1.0 Pathogenic 0 -126610 Simple 151162255 A . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -21.3 1.6666666666666667 Benign/Likely benign 0 -126611 Simple 180177103 A . Pathogenic 2 6 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-23 36.0 0.5 Pathogenic 0 -126613 Simple 152451 C . Benign/Likely benign 2 7 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2016-08-08 -35.1 2.0 Benign 1 -126614 Simple 515726073 C . Pathogenic 2 3 Fanconi anemia, complementation group N;not provided;Hereditary cancer-predisposing syndrome 2017-05-11 17.4 0.6666666666666666 Pathogenic 0 -126616 Simple 74320059 C . Benign 2 1 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-02-04 . 2.0 . 0 -126622 Simple 370422990 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -1.47 0.4 Uncertain significance 0 -126624 Simple 180177105 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-23 -8.7 0.6666666666666666 Benign/Likely benign 1 -126625 Simple 144015319 A . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -21.6 1.6 Benign/Likely benign 0 -126626 Simple 139362268 A . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -18.3 2.0 Benign/Likely benign 0 -126627 Simple 141707455 T . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-26 -14.4 0.75 Benign/Likely benign 0 -126629 Simple 180177083 A . Pathogenic/Likely pathogenic 2 7 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-15 34.2 1.1428571428571428 Pathogenic 1 -126630 Simple 45532440 G . Benign/Likely benign 2 10 Familial cancer of breast;Fanconi anemia;Pancreatic cancer 3;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -45.9 1.8 Benign 1 -126637 Simple 141458731 A . Benign/Likely benign 2 8 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -27.9 1.25 Benign 1 -126640 Simple 45543843 A . Uncertain significance 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -1.77 0.8333333333333334 Uncertain significance 0 -126642 Simple 147120218 C . Benign/Likely benign 2 7 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -27.6 1.0 Benign 1 -126644 Simple 180177084 - . Pathogenic 2 2 Familial cancer of breast;not provided 2017-06-13 12.0 0.0 Pathogenic/Likely pathogenic 1 -126646 Simple 180177111 A . Pathogenic, risk factor 2 4 Familial cancer of breast;Breast cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome 2017-08-03 22.8 1.0 Pathogenic 0 -126648 Simple 145805054 A . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -18.9 1.8 Benign/Likely benign 0 -126649 Simple 180177112 A . Pathogenic/Likely pathogenic 2 7 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-11-02 37.5 1.0 Pathogenic 1 -126655 Simple 515726088 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.8999999999999999 0.0 Uncertain significance 0 -126669 Simple 45568339 A . Benign/Likely benign 2 12 Familial cancer of breast;Fanconi anemia;Pancreatic cancer 3;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-03 -43.2 0.9166666666666666 Benign 1 -126670 Simple 515726090 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -1.2 0.0 Uncertain significance 0 -126672 Simple 45476495 T . Uncertain significance 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.77 0.5 Uncertain significance 0 -126673 Simple 515726091 AA . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2016-11-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -126675 Simple 180177122 T . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-18 19.8 0.75 Pathogenic 1 -126676 Simple 180177123 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-05 -0.81 1.6666666666666667 Uncertain significance 0 -126679 Simple 515726094 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.47 0.8 Uncertain significance 0 -126681 Simple 180177125 G . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group N;Tracheoesophageal fistula;Pancreatic cancer 3;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.5 0.2 Uncertain significance 0 -126682 Simple 45624036 T . Benign/Likely benign 2 9 Familial cancer of breast;Pancreatic cancer 3;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-15 -39.3 1.4444444444444444 Benign 1 -126688 Simple 515726099 G . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-19 6.0 0.0 Likely pathogenic 0 -126692 Simple 515726101 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-09-13 -6.0 1.0 Likely benign 0 -126694 Simple 515726103 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -126696 Simple 180177126 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-17 18.0 0.3333333333333333 Pathogenic 0 -126697 Simple 180177127 AA . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-16 23.4 1.2 Pathogenic 1 -126698 Simple 61756147 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -1.17 0.5 Uncertain significance 0 -126699 Simple 45551636 T . Benign/Likely benign 2 9 Familial cancer of breast;Fanconi anemia;Pancreatic cancer 3;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -38.4 1.6666666666666667 Benign 1 -126701 Simple 180177128 G . Benign/Likely benign 2 2 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2015-12-01 -6.9 3.0 Likely benign 1 -126705 Simple 180177130 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-01 -9.0 0.3333333333333333 Benign/Likely benign 1 -126706 Simple 180177131 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-03 16.2 1.6666666666666667 Pathogenic 0 -126707 Simple 515726104 - . Pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-02 30.0 0.8 Pathogenic 0 -126709 Simple 376619846 G . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -1.5 0.6 Uncertain significance 0 -126715 Simple 180177133 - . Pathogenic/Likely pathogenic, risk factor 2 7 Familial cancer of breast;Fanconi anemia, complementation group N;Pancreatic cancer 3;Breast cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 36.9 1.1428571428571428 Pathogenic 1 -126716 Simple 377713277 G . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -1.47 0.8 Uncertain significance 0 -126718 Simple 515726108 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -126723 Simple 515726111 G . Likely pathogenic 2 2 Familial cancer of breast;not provided 2017-05-11 6.0 0.5 Likely pathogenic 0 -126727 Simple 62625271 A . Uncertain significance 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -1.74 1.0 Uncertain significance 0 -126728 Simple 141570833 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -11.4 1.0 Benign/Likely benign 1 -126729 Simple 587776527 A . Pathogenic/Likely pathogenic, risk factor 2 6 Familial cancer of breast;Pancreatic cancer 3;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 32.1 0.8333333333333334 Pathogenic 1 -126730 Simple 45516100 C . Benign/Likely benign 2 7 Familial cancer of breast;Fanconi anemia;Pancreatic cancer 3;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -30.9 1.4285714285714286 Benign 1 -126731 Simple 515726112 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-25 -0.87 1.0 Uncertain significance 0 -126732 Simple 201657283 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.47 0.6 Uncertain significance 0 -126734 Simple 180177135 - . Pathogenic 2 5 Familial cancer of breast;Fanconi anemia, complementation group N;not provided;Hereditary cancer-predisposing syndrome 2017-09-08 28.8 0.8 Pathogenic 0 -126738 Simple 515726116 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.2 0.75 Uncertain significance 0 -126739 Simple 515726117 - . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 25.5 1.0 Pathogenic 1 -126740 Simple 62625284 T . Uncertain significance 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.74 0.6666666666666666 Uncertain significance 0 -126744 Simple 372686500 G . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -14.4 1.0 Benign/Likely benign 1 -126745 Simple 45439097 T . Benign/Likely benign 2 7 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -27.0 1.5714285714285714 Benign 1 -126747 Simple 180177139 G . Uncertain significance 2 2 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-08-10 -0.6 1.0 Uncertain significance 0 -126754 Simple 515726122 T . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-16 9.0 0.0 Pathogenic/Likely pathogenic 0 -126757 Simple 515726123 - . Pathogenic 2 8 Familial cancer of breast;Pancreatic cancer 3;not provided;Hereditary cancer-predisposing syndrome;PALB2-Related Disorders 2017-10-18 46.2 1.0 Pathogenic 0 -126764 Simple 180177090 - . Pathogenic 2 2 Familial cancer of breast;not provided 2017-06-22 11.4 1.0 Pathogenic/Likely pathogenic 1 -126765 Simple 113217267 C . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -20.4 0.8333333333333334 Benign/Likely benign 0 -126767 Simple 180177091 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2016-09-30 17.4 1.3333333333333333 Pathogenic 0 -126768 Simple 180177092 - . Pathogenic 2 8 Familial cancer of breast;Fanconi anemia, complementation group N;Pancreatic cancer 3;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 45.0 1.25 Pathogenic 0 -126769 Simple 515726126 AA . Pathogenic/Likely pathogenic 2 7 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-18 36.9 1.1428571428571428 Pathogenic 1 -126770 Simple 45465299 G . Benign/Likely benign 2 6 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -20.1 1.0 Benign/Likely benign 0 -126772 Simple 515726127 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.8999999999999999 0.0 Uncertain significance 0 -126774 Simple 515726129 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-06 -0.8999999999999999 1.0 Uncertain significance 0 -126776 Simple 180177095 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -11.7 0.75 Benign/Likely benign 1 -126778 Simple 145788619 A . Benign/Likely benign 2 7 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -24.0 1.8571428571428572 Benign 1 -126780 Simple 3809683 C . Benign/Likely benign 2 8 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -31.5 1.75 Benign 1 -126785 Simple 121913305 T . Pathogenic/Likely pathogenic 2 3 Retinoblastoma;not provided;Hereditary cancer-predisposing syndrome 2017-10-05 18.0 0.6666666666666666 Pathogenic 1 -126820 Simple 587778842 T . Pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2016-09-13 10.8 2.0 Pathogenic/Likely pathogenic 1 -126832 Simple 587776783 A . Pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-03-10 12.0 0.0 Pathogenic/Likely pathogenic 1 -126837 Simple 121913302 T . Pathogenic/Likely pathogenic 2 3 Retinoblastoma;not provided;Hereditary cancer-predisposing syndrome 2017-05-16 18.0 0.6666666666666666 Pathogenic 1 -126840 Simple 121913303 T . Pathogenic/Likely pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-09-15 12.0 0.0 Pathogenic/Likely pathogenic 0 -126891 Simple 587779778 C . Likely pathogenic 3 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2014-10-10 2.3400000000000003 1.5 Uncertain significance 2 -126892 Simple 587779254 C . Uncertain significance 3 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2014-03-14 -0.8340000000000001 1.6666666666666667 Uncertain significance 0 -126898 Simple 121908694 A . Uncertain significance 2 2 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-10 -0.6 0.0 Uncertain significance 0 -126907 Simple 121908703 A . Uncertain significance 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -126908 Simple 121908704 C . Uncertain significance 2 4 Familial cancer of breast;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-06 -1.2 0.75 Uncertain significance 0 -126909 Simple 121908705 C . Uncertain significance 2 6 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-27 -1.7999999999999998 0.0 Uncertain significance 0 -126910 Simple 121908706 T . Uncertain significance 2 5 Familial cancer of breast;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-11-01 -1.5 0.0 Uncertain significance 0 -126914 Simple 121908698 A . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided 2017-03-15 11.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -126976 Simple 104895022 T . Uncertain significance 2 2 not specified;not provided;Hereditary cancer-predisposing syndrome 2017-01-11 -0.6 1.0 Uncertain significance 0 -127003 Simple 104895050 T . Benign 2 4 Nijmegen breakage syndrome-like disorder;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-11 -21.6 1.75 Benign/Likely benign 1 -127004 Simple 104895051 A . Uncertain significance 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-07-01 -0.6 0.0 Uncertain significance 0 -127010 Simple 104895033 C . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-04-07 -1.2 0.5 Uncertain significance 0 -127030 Simple 104895016 T . Uncertain significance 2 3 Ataxia-telangiectasia-like disorder 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.0 Uncertain significance 0 -127039 Simple 104894984 C . Benign/Likely benign 2 2 Immunodeficiency with hyper IgM type 2;not provided;Immunodeficiency with Hyper-IgM 2017-07-18 -9.0 0.5 Benign/Likely benign 0 -127076 Simple 587777310 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 4;not provided;Early infantile epileptic encephalopathy 2017-06-19 11.4 1.0 Pathogenic/Likely pathogenic 1 -127125 Simple 5820483 CCTCCT . Benign 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -127126 Simple 8176235 T . Benign 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 1;not specified 2015-01-12 . 3.0 . 0 -127127 Simple 11654396 T . Benign 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -127241 Simple 587779349 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Ateleiotic dwarfism 2016-09-08 . 1.0 . 0 -127275 Simple 587779780 T . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-06-19 18.0 0.6666666666666666 Pathogenic 0 -127276 Simple 587779781 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified 2017-03-06 -0.84 1.3333333333333333 Uncertain significance 0 -127277 Simple 587779782 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -1.2 0.25 Uncertain significance 0 -127281 Simple 587779783 T . Pathogenic 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-05-07 16.2 2.0 Pathogenic 0 -127282 Simple 587779784 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-28 -1.1400000000000001 1.0 Uncertain significance 0 -127284 Simple 587779786 T . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided 2016-10-14 15.0 2.6666666666666665 Pathogenic 0 -127285 Simple 587779787 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-20 -0.84 1.3333333333333333 Uncertain significance 0 -127286 Simple 587779788 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -1.08 1.75 Uncertain significance 0 -127287 Simple 587779789 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -0.8999999999999999 0.0 Uncertain significance 0 -127290 Simple 575268622 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified 2017-01-04 -0.8099999999999999 2.0 Uncertain significance 0 -127291 Simple 587779791 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127292 Simple 587779792 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-05-09 -0.51 2.0 Uncertain significance 0 -127293 Simple 372241082 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127296 Simple 587779793 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-07-25 -0.51 2.0 Uncertain significance 0 -127297 Simple 373419559 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -0.8999999999999999 0.0 Uncertain significance 0 -127298 Simple 374048423 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.84 1.0 Uncertain significance 0 -127301 Simple 587779796 A . Uncertain significance 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.74 0.8333333333333334 Uncertain significance 0 -127303 Simple 587779797 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127304 Simple 199630012 G . Uncertain significance 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.74 0.6666666666666666 Uncertain significance 0 -127306 Simple 368080169 T . Uncertain significance 2 6 Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.74 1.0 Uncertain significance 0 -127308 Simple 587779800 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -1.2 0.5 Uncertain significance 0 -127309 Simple 587779801 TA . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -1.47 0.8 Uncertain significance 0 -127312 Simple 62619935 T . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-06-29 18.0 0.6666666666666666 Pathogenic 0 -127313 Simple 587779804 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -1.5 0.2 Uncertain significance 0 -127314 Simple 534228737 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-09 -0.84 1.3333333333333333 Uncertain significance 0 -127316 Simple 587779805 T . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-29 -1.44 0.8 Uncertain significance 0 -127317 Simple 587779806 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2016-01-01 -0.54 2.0 Uncertain significance 0 -127319 Simple 147549623 A . Benign/Likely benign 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -20.7 0.5 Benign/Likely benign 0 -127320 Simple 143060722 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -1.47 0.8 Uncertain significance 0 -127321 Simple 587779807 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -127322 Simple 140868933 A . Benign/Likely benign 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -28.8 1.0 Benign 1 -127323 Simple 587779808 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -0.51 2.5 Uncertain significance 0 -127327 Simple 138398778 T . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.5 0.2 Uncertain significance 0 -127329 Simple 149636614 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.17 0.75 Uncertain significance 0 -127331 Simple 34083085 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8999999999999999 0.0 Uncertain significance 0 -127333 Simple 587779812 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127334 Simple 587779813 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-03-25 10.2 2.5 Pathogenic/Likely pathogenic 1 -127337 Simple 587779815 T . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-29 26.4 0.8 Pathogenic 1 -127338 Simple 202173660 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.25 Uncertain significance 0 -127339 Simple 587779816 T . Uncertain significance 2 5 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.5 0.2 Uncertain significance 0 -127340 Simple 587779817 - . Pathogenic 2 6 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-11 34.8 0.5 Pathogenic 0 -127341 Simple 587779818 A . Pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 29.4 0.6 Pathogenic 0 -127342 Simple 2235006 C . Benign/Likely benign 2 6 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -22.2 1.5 Benign/Likely benign 0 -127343 Simple 2227922 T . Benign/Likely benign 2 7 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -30.0 1.7142857142857142 Benign 1 -127344 Simple 35389822 G . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.0 Uncertain significance 0 -127345 Simple 587779819 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -1.2 0.25 Uncertain significance 0 -127346 Simple 148705269 G . Uncertain significance 2 6 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -127348 Simple 587779820 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -1.2 0.5 Uncertain significance 0 -127349 Simple 641252 C . Benign/Likely benign 2 7 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -30.6 1.1428571428571428 Benign 1 -127350 Simple 587779821 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-13 -0.51 2.5 Uncertain significance 0 -127351 Simple 587779822 AA . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-10 24.0 0.75 Pathogenic 0 -127353 Simple 587779824 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-29 -0.48 3.0 Uncertain significance 0 -127354 Simple 587779825 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127357 Simple 587779826 C . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-11-08 17.7 0.6 Pathogenic 1 -127358 Simple 55723361 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.2 0.0 Uncertain significance 0 -127359 Simple 587779827 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -0.51 2.5 Uncertain significance 0 -127360 Simple 587779828 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -127363 Simple 587779830 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.2 0.5 Uncertain significance 0 -127367 Simple 370282831 A . Uncertain significance 2 5 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome;Inborn genetic diseases 2017-09-15 -1.5 0.0 Uncertain significance 0 -127369 Simple 587779832 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.75 Uncertain significance 0 -127371 Simple 587779833 G . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-13 26.4 0.8 Pathogenic 1 -127372 Simple 555219189 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.5 Uncertain significance 0 -127373 Simple 148590073 G . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -14.4 0.75 Benign/Likely benign 0 -127374 Simple 587779834 - . Pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-17 29.4 0.6 Pathogenic 0 -127375 Simple 587779835 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -127376 Simple 587779836 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-09 10.2 2.0 Pathogenic/Likely pathogenic 1 -127378 Simple 200976093 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-26 10.2 2.5 Pathogenic/Likely pathogenic 1 -127381 Simple 587779837 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-18 -0.51 2.5 Uncertain significance 0 -127382 Simple 141087784 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -1.2 0.25 Uncertain significance 0 -127383 Simple 587779838 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-19 -0.8999999999999999 1.0 Uncertain significance 0 -127387 Simple 145667735 A . Uncertain significance 2 5 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -1.5 0.2 Uncertain significance 0 -127389 Simple 369903995 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -1.17 0.5 Uncertain significance 0 -127390 Simple 539676759 G . Uncertain significance 2 5 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.5 0.0 Uncertain significance 0 -127391 Simple 587779840 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127395 Simple 55870064 G . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-07 -24.6 1.4 Benign 1 -127397 Simple 375131360 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.2 0.25 Uncertain significance 0 -127399 Simple 1800059 C . Benign/Likely benign 2 6 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -25.2 1.1666666666666667 Benign 1 -127400 Simple 142455912 G . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -1.2 0.0 Uncertain significance 0 -127402 Simple 373789346 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.0 Uncertain significance 0 -127404 Simple 587779845 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127405 Simple 587779846 - . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-07 24.0 1.8 Pathogenic 1 -127408 Simple 145812395 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -1.2 0.5 Uncertain significance 0 -127410 Simple 587779850 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -0.78 2.0 Uncertain significance 0 -127411 Simple 587779851 CCT . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-02-20 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -127412 Simple 147187700 C . Uncertain significance 2 6 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-12 -1.77 0.3333333333333333 Uncertain significance 0 -127413 Simple 56399311 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -1.2 0.0 Uncertain significance 0 -127414 Simple 587779852 T . Pathogenic 2 6 Familial cancer of breast;Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 35.4 0.5 Pathogenic 0 -127417 Simple 532480170 T . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-14 26.1 1.0 Pathogenic 1 -127418 Simple 3218670 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.2 0.0 Uncertain significance 0 -127419 Simple 147915571 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.2 0.0 Uncertain significance 0 -127420 Simple 587779853 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -0.8999999999999999 0.0 Uncertain significance 0 -127422 Simple 587778078 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -1.2 0.0 Uncertain significance 0 -127423 Simple 587779854 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-25 -0.8999999999999999 1.0 Uncertain significance 0 -127424 Simple 587779855 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.87 1.0 Uncertain significance 0 -127426 Simple 587779856 A . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-13 10.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -127427 Simple 587779857 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-10-24 -0.54 2.0 Uncertain significance 0 -127428 Simple 1800061 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -11.7 0.5 Benign/Likely benign 1 -127429 Simple 587779858 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.17 0.5 Uncertain significance 0 -127431 Simple 200940211 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -1.2 0.5 Uncertain significance 0 -127432 Simple 587779859 . . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-11 7.8 2.0 Likely pathogenic 1 -127436 Simple 587779860 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127442 Simple 587779863 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.1400000000000001 1.25 Uncertain significance 0 -127445 Simple 587779865 T . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-11-06 18.0 0.0 Pathogenic 0 -127446 Simple 56399857 G . Uncertain significance 2 6 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-11-09 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -127447 Simple 587779866 C . Pathogenic 2 6 Familial cancer of breast;Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 34.2 1.1666666666666667 Pathogenic 0 -127448 Simple 199915459 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.0 Uncertain significance 0 -127449 Simple 587779867 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -1.2 0.0 Uncertain significance 0 -127450 Simple 112775908 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -16.8 1.5 Benign/Likely benign 0 -127451 Simple 587779868 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-07-24 -0.51 2.5 Uncertain significance 0 -127453 Simple 587779869 TT . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-07-20 17.1 2.75 Pathogenic 1 -127454 Simple 587779870 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.2 0.0 Uncertain significance 0 -127455 Simple 587779870 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-01 -0.72 3.0 Uncertain significance 0 -127456 Simple 55982963 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -1.2 0.0 Uncertain significance 0 -127457 Simple 587779871 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-09 -0.5700000000000001 1.5 Uncertain significance 0 -127459 Simple 587779872 T . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-18 26.4 1.0 Pathogenic 1 -127460 Simple 141534716 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -127463 Simple 17174393 A . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-27 26.4 0.6 Pathogenic 1 -127465 Simple 200899512 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127466 Simple 1800558 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -1.2 0.0 Uncertain significance 0 -127468 Simple 201199629 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -0.8999999999999999 0.0 Uncertain significance 0 -127469 Simple 587779877 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-23 -0.51 2.0 Uncertain significance 0 -127471 Simple 28904919 T . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -17.4 1.0 Benign/Likely benign 0 -127472 Simple 571152089 C . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127478 Simple 200389141 T . Pathogenic/Likely pathogenic 2 5 Bloom syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-18 25.5 1.2 Pathogenic 1 -127482 Simple 146077918 T . Benign/Likely benign 2 5 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -16.2 1.8 Benign/Likely benign 0 -127483 Simple 587779881 T . Uncertain significance 2 2 Bloom syndrome;not specified 2017-07-06 -0.51 2.0 Uncertain significance 0 -127484 Simple 139610577 G . Uncertain significance 2 4 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -1.1099999999999999 1.25 Uncertain significance 0 -127489 Simple 201770808 C . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127491 Simple 587779884 T . Pathogenic/Likely pathogenic 2 3 Bloom syndrome;not provided 2017-07-31 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -127492 Simple 367953471 T . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-06 -0.8099999999999999 2.0 Uncertain significance 0 -127493 Simple 200690226 G . Uncertain significance 2 4 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.08 1.5 Uncertain significance 0 -127494 Simple 202196488 T . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127499 Simple 140387675 A . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127500 Simple 142928725 A . Likely benign 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -8.1 1.6666666666666667 Likely benign 0 -127503 Simple 371223446 G . Uncertain significance 2 2 Bloom syndrome;not specified 2017-04-19 -0.51 2.0 Uncertain significance 0 -127506 Simple 527291754 A . Uncertain significance 2 2 Bloom syndrome;not specified 2017-03-06 -0.51 2.0 Uncertain significance 0 -127507 Simple 150631940 G . Uncertain significance 2 2 Bloom syndrome;not specified 2017-08-07 -0.51 2.0 Uncertain significance 0 -127508 Simple 373832397 T . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -127510 Simple 587779891 T . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127511 Simple 587779892 G . Uncertain significance 2 2 Bloom syndrome;not specified 2017-08-07 -0.51 2.0 Uncertain significance 0 -127512 Simple 587779893 T . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127514 Simple 201845548 A . Uncertain significance 2 3 Bloom syndrome;not specified 2017-03-01 -0.8099999999999999 2.0 Uncertain significance 0 -127515 Simple 200756519 A . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127516 Simple 587779895 - . Uncertain significance 2 3 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-08-08 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127517 Simple 202042636 C . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127518 Simple 146504061 G . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -127520 Simple 201617914 A . Uncertain significance 2 4 Cutaneous malignant melanoma 3;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-09-13 -1.2 0.5 Uncertain significance 0 -127522 Simple 144481587 A . Benign/Likely benign 2 6 Melanoma-pancreatic cancer syndrome;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-02 -25.8 1.0 Benign 1 -127525 Simple 372481694 G . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-10-04 -0.8999999999999999 0.0 Uncertain significance 0 -127530 Simple 587779899 A . Uncertain significance 2 2 Fanconi anemia;not specified 2016-10-10 -0.5700000000000001 1.5 Uncertain significance 0 -127531 Simple 369684405 A . Uncertain significance 2 2 Fanconi anemia;not specified 2016-09-30 -0.5700000000000001 1.5 Uncertain significance 0 -127534 Simple 587779901 C . Uncertain significance 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -127538 Simple 143152201 T . Uncertain significance 2 4 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.2 0.25 Uncertain significance 0 -127540 Simple 587779904 T . Pathogenic 2 2 Fanconi anemia;not provided 2017-07-05 12.0 0.0 Pathogenic/Likely pathogenic 1 -127542 Simple 587779906 A . Uncertain significance 2 2 Fanconi anemia;not specified 2016-11-28 -0.51 2.5 Uncertain significance 0 -127543 Simple 182879858 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-03-21 -0.5700000000000001 1.0 Uncertain significance 0 -127547 Simple 587779909 T . Likely pathogenic 2 2 Fanconi anemia;Fanconi anemia, complementation group C 2016-01-27 5.4 2.0 Likely pathogenic 0 -127550 Simple 201407189 T . Benign/Likely benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -15.0 0.3333333333333333 Benign/Likely benign 0 -127552 Simple 548898238 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-11 -0.78 2.0 Uncertain significance 0 -127554 Simple 375974046 T . Uncertain significance 2 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-29 -1.44 0.8 Uncertain significance 0 -127555 Simple 147737737 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-05 -1.2 0.25 Uncertain significance 0 -127556 Simple 587779912 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-03-24 -0.42 4.0 Uncertain significance 0 -127557 Simple 587779913 C . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-10 -0.78 2.3333333333333335 Uncertain significance 0 -127558 Simple 587779914 A . Pathogenic 2 4 not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-03 22.8 1.25 Pathogenic 0 -127559 Simple 587779915 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-09-26 -0.48 3.0 Uncertain significance 0 -127560 Simple 587779916 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127561 Simple 200447622 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127562 Simple 587779917 A . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -0.87 1.0 Uncertain significance 0 -127563 Simple 201518545 G . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-19 -1.17 1.0 Uncertain significance 0 -127564 Simple 587779918 A . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -1.2 0.75 Uncertain significance 0 -127565 Simple 587779919 G . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-24 -1.5 0.2 Uncertain significance 0 -127566 Simple 587779920 A . Uncertain significance 2 2 Lynch syndrome;not specified 2016-09-05 -0.54 2.0 Uncertain significance 0 -127567 Simple 587779921 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-01-26 -0.8099999999999999 2.0 Uncertain significance 0 -127570 Simple 587779923 A . Uncertain significance 2 6 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -1.77 0.5 Uncertain significance 0 -127572 Simple 587779925 G . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-18 -1.17 0.75 Uncertain significance 0 -127573 Simple 374401174 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127575 Simple 587779927 C . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified 2016-11-23 -0.8099999999999999 2.0 Uncertain significance 0 -127576 Simple 587779928 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-27 -1.17 0.75 Uncertain significance 0 -127577 Simple 587779929 T . Uncertain significance 2 2 not specified 2017-02-03 -0.51 2.5 Uncertain significance 0 -127579 Simple 587779931 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-18 -0.54 2.0 Uncertain significance 0 -127580 Simple 200492211 T . Pathogenic 2 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-05 23.4 1.0 Pathogenic 0 -127581 Simple 369042519 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-16 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -127582 Simple 587779932 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-28 -1.2 0.5 Uncertain significance 0 -127584 Simple 63750753 A . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-12 -1.5 0.0 Uncertain significance 0 -127586 Simple 587779934 G . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-30 -1.5 0.6 Uncertain significance 0 -127587 Simple 587779935 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -0.54 1.5 Uncertain significance 0 -127591 Simple 202066386 A . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -1.5 0.2 Uncertain significance 0 -127592 Simple 587779937 - . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-02-16 -0.5700000000000001 1.5 Uncertain significance 0 -127593 Simple 147852216 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-05 -1.2 0.0 Uncertain significance 0 -127594 Simple 150990541 A . Uncertain significance 2 6 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-10 -1.77 0.3333333333333333 Uncertain significance 0 -127595 Simple 587779938 C . Uncertain significance 2 2 Hereditary nonpolyposis colorectal cancer type 5;not specified 2015-12-01 -0.48 3.0 Uncertain significance 0 -127596 Simple 587779939 T . Uncertain significance 2 2 Lynch syndrome;not specified 2017-03-03 -0.5700000000000001 1.5 Uncertain significance 0 -127598 Simple 587779941 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-30 17.4 1.0 Pathogenic 0 -127604 Simple 587779947 A . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -1.41 1.4 Uncertain significance 0 -127605 Simple 587779948 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -0.54 1.5 Uncertain significance 0 -127606 Simple 587779949 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -127608 Simple 143009528 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-08 -0.54 2.0 Uncertain significance 0 -127609 Simple 141344760 C . Uncertain significance 2 5 Lynch syndrome;Ovarian cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.5 0.4 Uncertain significance 0 -127611 Simple 587779951 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-11-10 -0.87 0.6666666666666666 Uncertain significance 0 -127612 Simple 587779952 T . Uncertain significance 2 5 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -1.44 1.2 Uncertain significance 0 -127617 Simple 587779954 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-20 -1.1099999999999999 1.5 Uncertain significance 0 -127618 Simple 587779955 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2013-12-10 -0.42 4.0 Uncertain significance 0 -127619 Simple 56185292 T . Uncertain significance 2 8 Turcot syndrome;Muir-Torré syndrome;Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -2.37 0.625 Uncertain significance 0 -127620 Simple 587779956 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-20 -1.2 0.75 Uncertain significance 0 -127621 Simple 587779957 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-11-02 -0.6 0.0 Uncertain significance 0 -127622 Simple 587779958 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-06 -0.8999999999999999 0.0 Uncertain significance 0 -127623 Simple 587779959 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-17 -1.17 0.5 Uncertain significance 0 -127624 Simple 587779960 C . Uncertain significance 2 4 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.2 0.5 Uncertain significance 0 -127625 Simple 587779961 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127627 Simple 374135434 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-29 -1.2 0.0 Uncertain significance 0 -127628 Simple 63751412 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-17 -0.84 1.6666666666666667 Uncertain significance 0 -127629 Simple 587779962 C . Uncertain significance 2 4 Lynch syndrome I;Turcot syndrome;Muir-Torré syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-26 -1.2 0.25 Uncertain significance 0 -127630 Simple 148192104 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127631 Simple 199744440 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-25 -0.78 2.0 Uncertain significance 0 -127632 Simple 587778523 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-16 -1.2 0.5 Uncertain significance 0 -127633 Simple 587779963 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -1.1099999999999999 1.5 Uncertain significance 0 -127634 Simple 370330868 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.1099999999999999 1.5 Uncertain significance 0 -127636 Simple 587779965 G . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-03 -1.5 0.4 Uncertain significance 0 -127638 Simple 587779966 C . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-03 -1.1400000000000001 1.5 Uncertain significance 0 -127639 Simple 587779967 A . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -0.87 1.0 Uncertain significance 0 -127640 Simple 587779968 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -1.2 0.5 Uncertain significance 0 -127642 Simple 587779970 C . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -1.2 0.75 Uncertain significance 0 -127643 Simple 587779971 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -1.2 0.5 Uncertain significance 0 -127646 Simple 193096019 T . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-04 -1.5 0.4 Uncertain significance 0 -127647 Simple 587779973 A . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-03 -1.5 0.4 Uncertain significance 0 -127648 Simple 63750574 A . Uncertain significance 2 4 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.2 0.5 Uncertain significance 0 -127651 Simple 63751307 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127654 Simple 587779978 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-24 -0.78 2.3333333333333335 Uncertain significance 0 -127655 Simple 587779979 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-04 18.0 0.0 Pathogenic 0 -127659 Simple 727502789 G . Benign/Likely benign 2 1 not specified;Hereditary cancer-predisposing syndrome 2015-10-30 . 2.0 . 0 -127662 Simple 587779981 T . Uncertain significance 2 4 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -1.1099999999999999 1.75 Uncertain significance 0 -127663 Simple 587779982 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-14 -0.51 2.5 Uncertain significance 0 -127672 Simple 886047384 A . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;not specified 2016-08-22 -0.6 1.0 Uncertain significance 0 -127682 Simple 587779999 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-24 -0.54 2.0 Uncertain significance 0 -127685 Simple 587780001 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-15 -0.54 2.0 Uncertain significance 0 -127687 Simple 587780003 - . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127691 Simple 35917308 T . Likely benign 2 7 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -20.1 1.1428571428571428 Benign/Likely benign 1 -127693 Simple 143335584 G . Uncertain significance 2 6 Endometrial carcinoma;Macrocephaly/autism syndrome;Meningioma, familial;Squamous cell carcinoma of the head and neck;Bannayan-Riley-Ruvalcaba syndrome;Malignant tumor of prostate;Thyroid cancer, follicular;VACTERL association with hydrocephalus;Glioma susceptibility 2;PTEN hamartoma tumor syndrome;Cowden syndrome 1;Cutaneous malignant melanoma 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.77 0.5 Uncertain significance 0 -127695 Simple 371387815 G . Uncertain significance 2 5 Endometrial carcinoma;Macrocephaly/autism syndrome;Meningioma, familial;Squamous cell carcinoma of the head and neck;Bannayan-Riley-Ruvalcaba syndrome;Malignant tumor of prostate;Thyroid cancer, follicular;VACTERL association with hydrocephalus;Glioma susceptibility 2;PTEN hamartoma tumor syndrome;Cowden syndrome 1;Cutaneous malignant melanoma 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.5 0.2 Uncertain significance 0 -127696 Simple 587780007 A . Uncertain significance 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -1.2 0.5 Uncertain significance 0 -127698 Simple 373888280 C . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-09 -1.2 0.75 Uncertain significance 0 -127701 Simple 372329880 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.17 0.5 Uncertain significance 0 -127704 Simple 587780010 C . Uncertain significance 2 2 Peutz-Jeghers syndrome;not specified 2017-06-05 -0.6 0.5 Uncertain significance 0 -127705 Simple 121913322 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -1.2 0.5 Uncertain significance 0 -127706 Simple 587780011 T . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -0.75 2.3333333333333335 Uncertain significance 0 -127708 Simple 587780012 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;not specified 2017-06-26 -0.51 2.0 Uncertain significance 0 -127709 Simple 587780013 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.14 0.75 Uncertain significance 0 -127711 Simple 549474196 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;not specified 2016-06-10 -0.51 2.5 Uncertain significance 0 -127712 Simple 201032007 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.2 0.25 Uncertain significance 0 -127713 Simple 587780014 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-03 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127714 Simple 587780015 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.51 2.0 Uncertain significance 0 -127715 Simple 587780016 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127716 Simple 587780017 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.2 0.0 Uncertain significance 0 -127718 Simple 587780019 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-09 -0.5700000000000001 1.5 Uncertain significance 0 -127719 Simple 587780020 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-05-20 -0.78 2.3333333333333335 Uncertain significance 0 -127720 Simple 587780021 A . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-06 22.8 1.0 Pathogenic 0 -127722 Simple 587780022 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -1.2 0.5 Uncertain significance 0 -127723 Simple 376256852 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -1.2 0.5 Uncertain significance 0 -127724 Simple 587780023 G . Uncertain significance 2 2 Familial cancer of breast;not specified 2016-11-25 -0.51 2.5 Uncertain significance 0 -127725 Simple 587780024 . . Pathogenic/Likely pathogenic 2 7 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-09 33.6 1.1428571428571428 Pathogenic 1 -127727 Simple 147215925 C . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -19.8 0.6 Benign/Likely benign 0 -127730 Simple 149262370 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -1.2 0.25 Uncertain significance 0 -127731 Simple 372160908 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127733 Simple 587780028 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.81 1.6666666666666667 Uncertain significance 0 -127736 Simple 587780030 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.2 0.5 Uncertain significance 0 -127737 Simple 143914387 A . Benign/Likely benign 2 7 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-08 -23.4 0.8571428571428571 Benign/Likely benign 0 -127738 Simple 142864491 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -1.2 0.25 Uncertain significance 0 -127740 Simple 587780032 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.14 0.75 Uncertain significance 0 -127741 Simple 34969857 C . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -20.7 0.5 Benign/Likely benign 0 -127742 Simple 587780033 TT . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-15 16.2 1.6666666666666667 Pathogenic 0 -127743 Simple 145009419 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -1.2 0.0 Uncertain significance 0 -127744 Simple 587780034 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-07 -0.51 2.5 Uncertain significance 0 -127746 Simple 200359745 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -0.8999999999999999 0.0 Uncertain significance 0 -127747 Simple 587780036 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-23 -1.2 0.75 Uncertain significance 0 -127748 Simple 587780037 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -1.2 0.5 Uncertain significance 0 -127749 Simple 200059956 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-13 -1.5 0.2 Uncertain significance 0 -127750 Simple 587780038 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-04-15 -0.78 2.3333333333333335 Uncertain significance 0 -127752 Simple 150515238 G . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.1099999999999999 1.5 Uncertain significance 0 -127754 Simple 587780039 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127757 Simple 370752614 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-25 -1.2 0.0 Uncertain significance 0 -127758 Simple 376042544 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-07 -1.2 0.0 Uncertain significance 0 -127759 Simple 587780042 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-21 -0.5700000000000001 1.0 Uncertain significance 0 -127760 Simple 148642064 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127762 Simple 540287433 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-26 -1.2 0.25 Uncertain significance 0 -127764 Simple 587780043 . . Uncertain significance 2 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -1.17 0.75 Uncertain significance 0 -127766 Simple 142506484 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127768 Simple 372341850 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-06 -1.2 0.0 Uncertain significance 0 -127769 Simple 587780045 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-20 -1.2 0.5 Uncertain significance 0 -127771 Simple 587780047 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127772 Simple 587780048 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -0.51 2.0 Uncertain significance 0 -127773 Simple 370196722 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -0.8999999999999999 0.0 Uncertain significance 0 -127774 Simple 587780049 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-01-31 -0.54 2.0 Uncertain significance 0 -127775 Simple 587780050 G . Uncertain significance 2 3 not specified;Hereditary nonpolyposis colon cancer 2017-11-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127776 Simple 587780051 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -0.5700000000000001 1.0 Uncertain significance 0 -127777 Simple 587780052 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127778 Simple 587780053 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -0.87 1.0 Uncertain significance 0 -127780 Simple 143340522 T . Uncertain significance 2 5 Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-11 -1.5 0.2 Uncertain significance 0 -127781 Simple 368737800 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127782 Simple 587780055 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-22 -0.8999999999999999 0.0 Uncertain significance 0 -127783 Simple 375968016 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -1.2 0.5 Uncertain significance 0 -127785 Simple 149343081 C . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -10.5 1.6666666666666667 Benign/Likely benign 0 -127788 Simple 587780059 G . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-19 14.4 1.0 Pathogenic/Likely pathogenic 0 -127789 Simple 188006077 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -1.14 0.75 Uncertain significance 0 -127791 Simple 142416537 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -1.2 0.25 Uncertain significance 0 -127792 Simple 587780060 G . Uncertain significance 2 6 Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -127794 Simple 376258383 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127795 Simple 587780061 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127796 Simple 587780062 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-01 18.0 0.3333333333333333 Pathogenic 0 -127797 Simple 546966892 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127798 Simple 116788608 C . Uncertain significance 2 5 Lynch syndrome I;Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-08 -1.5 0.2 Uncertain significance 0 -127799 Simple 563433235 A . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-08 -1.14 1.0 Uncertain significance 0 -127800 Simple 369763423 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-25 -0.84 1.0 Uncertain significance 0 -127801 Simple 587780063 T . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -1.5 0.2 Uncertain significance 0 -127802 Simple 587780064 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-09-26 17.4 1.0 Pathogenic 0 -127804 Simple 144386518 C . Likely benign 2 5 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -15.0 0.2 Benign/Likely benign 1 -127807 Simple 587780066 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2014-08-20 9.0 3.5 Pathogenic/Likely pathogenic 1 -127808 Simple 11540654 T . Uncertain significance 2 4 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -1.17 0.5 Uncertain significance 0 -127810 Simple 563378859 A . Uncertain significance 2 4 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -1.1400000000000001 1.25 Uncertain significance 0 -127814 Simple 148924904 C . Pathogenic/Likely pathogenic 2 3 Liver cancer;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Adenocarcinoma of lung;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;not provided;Neoplasm of brain;Neoplasm of the breast;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Ovarian Serous Cystadenocarcinoma;Uterine Carcinosarcoma 2017-07-13 16.2 1.3333333333333333 Pathogenic 1 -127815 Simple 587780070 A . Pathogenic/Likely pathogenic 2 2 Liver cancer;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Adenocarcinoma of lung;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Acute myeloid leukemia;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Carcinoma of esophagus;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma;Carcinoma of gallbladder 2017-05-11 10.2 2.0 Pathogenic/Likely pathogenic 0 -127816 Simple 587778718 C . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -1.2 0.75 Uncertain significance 0 -127819 Simple 121912666 C . Pathogenic/Likely pathogenic 2 3 Liver cancer;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Adenocarcinoma of lung;Kidney cancer;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Acute myeloid leukemia;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Colorectal Neoplasms;Papillary renal cell carcinoma, sporadic;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-07-12 18.0 0.0 Pathogenic 1 -127820 Simple 587780073 C . Pathogenic/Likely pathogenic 2 4 Liver cancer;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;not provided;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Adrenocortical carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Adenocarcinoma of prostate 2017-06-16 13.8 1.0 Pathogenic/Likely pathogenic 0 -127823 Simple 587780075 T . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.17 0.75 Uncertain significance 0 -127826 Simple 587780076 A . Uncertain significance 2 5 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.47 0.8 Uncertain significance 0 -127828 Simple 138780791 A . Uncertain significance 2 3 Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.87 0.6666666666666666 Uncertain significance 0 -127829 Simple 587780077 T . Pathogenic 2 2 Von Hippel-Lindau syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-02-26 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -127830 Simple 5030834 T . Benign/Likely benign 2 4 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -14.7 0.75 Benign/Likely benign 0 -127831 Simple 587780078 CCCC . Pathogenic 2 5 MYH-associated polyposis;Carcinoma of colon;not provided;Hereditary cancer-predisposing syndrome 2017-08-18 28.8 1.0 Pathogenic 0 -127832 Simple 587780079 A . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.1099999999999999 1.25 Uncertain significance 0 -127833 Simple 587780080 A . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127834 Simple 587780081 T . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127835 Simple 587780082 A . Pathogenic 2 4 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-07-13 24.0 0.5 Pathogenic 0 -127837 Simple 587780084 A . Uncertain significance 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -1.47 0.4 Uncertain significance 0 -127838 Simple 587778541 - . Pathogenic 2 8 MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 46.8 0.875 Pathogenic 0 -127840 Simple 587780085 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -0.6 0.0 Uncertain significance 0 -127842 Simple 144616312 A . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127843 Simple 587780086 - . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -1.08 1.75 Uncertain significance 0 -127845 Simple 587780088 A . Pathogenic 2 4 MYH-associated polyposis;Carcinoma of colon;not provided;Hereditary cancer-predisposing syndrome 2017-08-23 22.2 1.25 Pathogenic 0 -127846 Simple 369677603 T . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127847 Simple 200872702 C . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.2 0.0 Uncertain significance 0 -127850 Simple 201402370 T . Benign/Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-04-12 -8.1 2.0 Likely benign 1 -127852 Simple 587780089 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127855 Simple 370229163 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-18 -0.51 2.5 Uncertain significance 0 -127856 Simple 34120922 C . Benign/Likely benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -17.4 0.6 Benign/Likely benign 0 -127858 Simple 28538230 C . Likely benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -14.4 0.6 Benign/Likely benign 1 -127859 Simple 558023830 T . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -1.2 0.0 Uncertain significance 0 -127860 Simple 587780090 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -0.81 1.6666666666666667 Uncertain significance 0 -127863 Simple 587780091 G . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia;Acute lymphoid leukemia;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.2 0.25 Uncertain significance 0 -127864 Simple 587780092 G . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -0.78 2.3333333333333335 Uncertain significance 0 -127865 Simple 587780093 A . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia;Acute lymphoid leukemia;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -1.2 0.25 Uncertain significance 0 -127867 Simple 587780094 G . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127868 Simple 587780095 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -0.84 1.0 Uncertain significance 0 -127872 Simple 201816949 T . Uncertain significance 2 6 Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia;Acute lymphoid leukemia;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-10 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -127873 Simple 182756889 A . Uncertain significance 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -1.5 0.4 Uncertain significance 0 -127874 Simple 587780097 A . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia;Acute lymphoid leukemia;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -1.2 0.0 Uncertain significance 0 -127875 Simple 587780098 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127876 Simple 587780099 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.51 2.0 Uncertain significance 0 -127878 Simple 587780100 - . Pathogenic 2 5 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 29.4 0.8 Pathogenic 0 -127881 Simple 587780101 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -0.6 0.5 Uncertain significance 0 -127882 Simple 587780102 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.5 0.2 Uncertain significance 0 -127884 Simple 561425038 C . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-05-24 12.0 0.3333333333333333 Pathogenic/Likely pathogenic 0 -127885 Simple 142189122 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2017-09-13 -1.5 0.4 Uncertain significance 0 -127886 Simple 140825795 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-11-13 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -127887 Simple 587780103 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -0.51 2.0 Uncertain significance 0 -127888 Simple 141690729 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127890 Simple 544654228 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;not specified 2017-07-12 -0.6 0.5 Uncertain significance 0 -127891 Simple 544654228 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -1.2 0.0 Uncertain significance 0 -127893 Simple 587780104 A . Pathogenic 2 5 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-07-11 28.8 1.0 Pathogenic 0 -127894 Simple 587780105 - . Pathogenic 2 3 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-05-31 18.0 0.0 Pathogenic 0 -127897 Simple 145309168 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-06-29 -0.44999999999999996 3.5 Uncertain significance 0 -127898 Simple 587780106 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.5 0.2 Uncertain significance 0 -127899 Simple 587780107 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -0.51 2.0 Uncertain significance 0 -127900 Simple 587780108 A . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-03 -0.8999999999999999 1.0 Uncertain significance 0 -127902 Simple 587780110 T . Uncertain significance 2 6 Juvenile polyposis syndrome;Hereditary mixed polyposis syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-10-30 -1.7999999999999998 0.0 Uncertain significance 0 -127903 Simple 587778111 G . Uncertain significance 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.77 0.5 Uncertain significance 0 -127905 Simple 373364873 A . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.47 0.4 Uncertain significance 0 -127909 Simple 570930882 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -127911 Simple 374398608 C . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.2 0.0 Uncertain significance 0 -127912 Simple 587780112 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.87 1.0 Uncertain significance 0 -127914 Simple 36087757 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.2 0.25 Uncertain significance 0 -127915 Simple 587780113 A . Pathogenic 2 4 Hereditary diffuse gastric cancer;not provided;Hereditary cancer-predisposing syndrome 2017-10-04 24.0 0.5 Pathogenic 0 -127917 Simple 587780115 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-29 -0.54 2.0 Uncertain significance 0 -127918 Simple 587780116 G . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -1.38 1.2 Uncertain significance 0 -127923 Simple 587780119 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.2 0.25 Uncertain significance 0 -127924 Simple 587780120 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.2 0.5 Uncertain significance 0 -127926 Simple 139757930 G . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -17.1 1.4 Benign/Likely benign 0 -127927 Simple 587780121 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -1.17 0.75 Uncertain significance 0 -127929 Simple 200104963 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -1.17 0.75 Uncertain significance 0 -127931 Simple 200673941 T . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -20.4 2.4 Benign/Likely benign 0 -127932 Simple 200310662 T . Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome;Anophthalmia - microphthalmia 2017-10-10 -13.5 1.4 Benign/Likely benign 1 -127935 Simple 115931022 G . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-10-30 -0.6 0.0 Uncertain significance 0 -127936 Simple 374444786 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-02 -0.54 1.5 Uncertain significance 0 -127938 Simple 74006838 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-03 -6.0 0.5 Likely benign 0 -127940 Simple 138056036 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-19 -0.6 0.0 Uncertain significance 0 -127942 Simple 587780123 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-06 -0.6 0.5 Uncertain significance 0 -127946 Simple 527766429 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-24 -0.6 0.0 Uncertain significance 0 -127949 Simple 587780124 . . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-03-16 9.600000000000001 3.0 Pathogenic/Likely pathogenic 0 -127955 Simple 371453207 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-10 -0.6 1.0 Uncertain significance 0 -127959 Simple 180805457 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -127962 Simple 587780130 G . Uncertain significance 2 2 not specified 2017-01-03 -0.5700000000000001 1.5 Uncertain significance 0 -127963 Simple 149186933 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -127967 Simple 587780133 T . Uncertain significance 2 3 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -127968 Simple 371077728 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.54 1.5 Uncertain significance 0 -127969 Simple 587780134 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -0.78 2.0 Uncertain significance 0 -127975 Simple 142082313 G . Benign/Likely benign 2 3 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -9.9 2.3333333333333335 Benign/Likely benign 0 -127976 Simple 148637964 T . Uncertain significance 2 4 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -1.1099999999999999 1.25 Uncertain significance 0 -127978 Simple 587780137 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-10 -0.51 2.5 Uncertain significance 0 -127980 Simple 587780139 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -1.14 1.0 Uncertain significance 0 -127981 Simple 587780140 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -127982 Simple 587780141 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-08-25 -0.78 2.3333333333333335 Uncertain significance 0 -127983 Simple 142996063 T . Uncertain significance 2 5 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.41 1.2 Uncertain significance 0 -127986 Simple 587780144 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-08-09 -0.78 2.3333333333333335 Uncertain significance 0 -127987 Simple 143400546 C . Uncertain significance 2 4 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome;Ovarian neoplasm 2017-07-19 -1.05 1.75 Uncertain significance 0 -127993 Simple 145428112 G . Uncertain significance 2 4 Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -1.1099999999999999 1.0 Uncertain significance 0 -127994 Simple 587780147 GATAAGAGATAAGA . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-06-10 10.2 2.5 Pathogenic/Likely pathogenic 1 -127997 Simple 587780150 T . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2016-09-15 16.2 2.0 Pathogenic 0 -128000 Simple 144749616 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128001 Simple 28903092 A . Uncertain significance 2 4 Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.1099999999999999 1.0 Uncertain significance 0 -128002 Simple 587780152 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-01 -0.51 2.5 Uncertain significance 0 -128004 Simple 61749630 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128005 Simple 28903093 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -128006 Simple 181961360 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128010 Simple 151109830 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-28 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128011 Simple 562172843 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-28 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128012 Simple 28903085 C . Benign/Likely benign 2 5 Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -18.6 2.0 Benign/Likely benign 0 -128013 Simple 150401251 C . Uncertain significance 2 4 Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -1.2 0.5 Uncertain significance 0 -128014 Simple 587780153 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-20 10.2 2.5 Pathogenic/Likely pathogenic 1 -128015 Simple 587780154 - . Pathogenic 2 3 Hereditary cancer-predisposing syndrome 2014-09-23 13.2 3.6666666666666665 Pathogenic/Likely pathogenic 1 -128017 Simple 587780155 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-03-30 16.2 1.3333333333333333 Pathogenic 0 -128018 Simple 147545169 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128020 Simple 587780156 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-28 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -128022 Simple 115706334 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128025 Simple 587780158 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128027 Simple 587780159 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128029 Simple 587780160 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-12-05 -0.51 2.0 Uncertain significance 0 -128030 Simple 587780161 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.51 2.0 Uncertain significance 0 -128031 Simple 138213197 T . Pathogenic/Likely pathogenic, risk factor 2 3 Prostate cancer susceptibility;not provided;Hereditary cancer-predisposing syndrome 2017-09-15 14.4 0.6666666666666666 Pathogenic/Likely pathogenic 0 -128033 Simple 587780162 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -0.51 2.0 Uncertain significance 0 -128036 Simple 145059285 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.51 2.0 Uncertain significance 0 -128038 Simple 200997384 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -0.51 2.0 Uncertain significance 0 -128039 Simple 374938148 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -1.2 0.5 Uncertain significance 0 -128042 Simple 555607708 - . Pathogenic 2 10 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;Breast cancer, susceptibility to;Breast and colorectal cancer, susceptibility to;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Leiomyosarcoma;Breast cancer;Hereditary cancer 2017-09-18 57.6 1.0 Pathogenic 0 -128043 Simple 587780166 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-03-27 -0.44999999999999996 3.5 Uncertain significance 0 -128044 Simple 531398630 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -1.2 0.0 Uncertain significance 0 -128045 Simple 560973106 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -1.5 0.8 Uncertain significance 0 -128046 Simple 587780167 A . Uncertain significance 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-11 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -128047 Simple 587780168 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -1.2 0.25 Uncertain significance 0 -128048 Simple 587780169 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -1.2 0.5 Uncertain significance 0 -128049 Simple 587780170 G . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -1.5 0.4 Uncertain significance 0 -128050 Simple 587780171 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.0 Uncertain significance 0 -128053 Simple 587780174 - . Pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-26 28.8 1.0 Pathogenic 0 -128054 Simple 139366548 G . Uncertain significance 2 6 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -128057 Simple 587780176 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -0.84 1.3333333333333333 Uncertain significance 0 -128061 Simple 587780177 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -1.1099999999999999 1.0 Uncertain significance 0 -128062 Simple 587780178 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -0.8999999999999999 1.0 Uncertain significance 0 -128063 Simple 587780179 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -1.2 0.25 Uncertain significance 0 -128065 Simple 587780180 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.0 Uncertain significance 0 -128066 Simple 587780180 A . Uncertain significance 2 8 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -2.4 0.375 Uncertain significance 0 -128069 Simple 587780181 - . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.5 0.6 Uncertain significance 0 -128071 Simple 28909982 C . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-01 21.0 0.16666666666666666 Pathogenic 1 -128072 Simple 372874441 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -128073 Simple 368570187 T . Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -17.4 0.8333333333333334 Benign/Likely benign 1 -128074 Simple 587780182 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -0.51 2.0 Uncertain significance 0 -128075 Simple 121908698 T . Pathogenic/Likely pathogenic 2 8 Familial cancer of breast;Breast cancer, susceptibility to;Breast and colorectal cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome 2017-08-18 43.5 1.0 Pathogenic 1 -128076 Simple 72552323 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -1.5 0.4 Uncertain significance 0 -128078 Simple 144850845 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-19 -1.17 0.75 Uncertain significance 0 -128079 Simple 587780183 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-21 16.2 1.3333333333333333 Pathogenic 0 -128080 Simple 587780184 AA . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-23 11.4 1.0 Pathogenic/Likely pathogenic 1 -128082 Simple 587780185 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.2 0.25 Uncertain significance 0 -128084 Simple 587780187 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.1099999999999999 1.5 Uncertain significance 0 -128086 Simple 587780189 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.5 0.2 Uncertain significance 0 -128087 Simple 587780190 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -1.2 0.0 Uncertain significance 0 -128088 Simple 587780191 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.2 0.75 Uncertain significance 0 -128090 Simple 148053495 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.75 Uncertain significance 0 -128092 Simple 587780194 C . Uncertain significance 2 6 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.7999999999999998 0.5 Uncertain significance 0 -128099 Simple 138283237 T . Likely benign 2 2 Carcinoma of pancreas;not specified 2016-06-14 -5.4 2.0 Likely benign 0 -128103 Simple 587780197 A . Uncertain significance 2 2 not specified;Pancreatic adenocarcinoma 2015-08-03 -0.48 3.0 Uncertain significance 0 -128106 Simple 587780200 C . Uncertain significance 2 2 not specified;Pancreatic adenocarcinoma 2017-05-30 -0.51 2.0 Uncertain significance 0 -128114 Simple 146018183 A . Likely benign 2 2 Carcinoma of pancreas;not specified 2016-06-14 -5.1 2.5 Likely benign 0 -128116 Simple 587780204 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-14 -1.08 1.75 Uncertain significance 0 -128117 Simple 180177100 A . Pathogenic 2 7 Familial cancer of breast;Fanconi anemia, complementation group N;Tracheoesophageal fistula;Pancreatic cancer 3;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 40.8 0.8571428571428571 Pathogenic 0 -128119 Simple 62625274 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.17 0.75 Uncertain significance 0 -128120 Simple 373876101 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.5 Uncertain significance 0 -128121 Simple 587780206 CA . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-22 12.0 1.0 Pathogenic/Likely pathogenic 1 -128123 Simple 587780207 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -0.87 0.6666666666666666 Uncertain significance 0 -128124 Simple 62625272 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.47 0.6 Uncertain significance 0 -128125 Simple 62625277 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.2 0.5 Uncertain significance 0 -128126 Simple 587780208 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -0.87 1.0 Uncertain significance 0 -128128 Simple 587780210 - . Pathogenic 2 6 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-17 36.0 0.6666666666666666 Pathogenic 0 -128129 Simple 62625278 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -0.87 0.6666666666666666 Uncertain significance 0 -128131 Simple 587780211 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2014-10-14 9.6 3.0 Pathogenic/Likely pathogenic 1 -128136 Simple 587780214 G . Uncertain significance, association 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome;Triple-negative breast cancer 2017-10-31 -1.2 0.25 Uncertain significance 0 -128137 Simple 587780215 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-17 -0.51 2.5 Uncertain significance 0 -128138 Simple 587780216 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-05 -0.5700000000000001 1.5 Uncertain significance 0 -128142 Simple 587776426 TT . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-15 24.0 0.75 Pathogenic 0 -128143 Simple 370404126 G . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.47 0.8 Uncertain significance 0 -128144 Simple 118203998 T . Pathogenic 2 7 Familial cancer of breast;Fanconi anemia, complementation group N;Tracheoesophageal fistula;Pancreatic cancer 3;not provided;Hereditary cancer-predisposing syndrome 2017-07-24 40.8 0.8571428571428571 Pathogenic 0 -128145 Simple 587780220 G . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-05-01 -0.51 2.0 Uncertain significance 0 -128146 Simple 587780221 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2015-06-01 -0.48 3.0 Uncertain significance 0 -128147 Simple 45585833 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -1.47 1.0 Uncertain significance 0 -128148 Simple 587780222 - . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -0.8999999999999999 0.0 Uncertain significance 0 -128149 Simple 45561331 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -0.8999999999999999 0.0 Uncertain significance 0 -128150 Simple 587780223 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -1.2 0.25 Uncertain significance 0 -128151 Simple 587780224 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-04-16 16.2 1.3333333333333333 Pathogenic 0 -128152 Simple 587780225 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128153 Simple 150624408 A . Uncertain significance 2 8 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome;Breast carcinoma 2017-10-20 -2.34 0.75 Uncertain significance 0 -128154 Simple 587780226 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-09-18 17.4 1.0 Pathogenic 0 -128155 Simple 587780227 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-03-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -128156 Simple 587780228 A . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 23.4 0.75 Pathogenic 0 -128157 Simple 45501097 C . Benign/Likely benign 2 8 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-11-12 -41.4 0.5 Benign 1 -128158 Simple 587780229 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128160 Simple 142744352 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -1.2 0.25 Uncertain significance 0 -128161 Simple 587780230 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -1.2 0.5 Uncertain significance 0 -128162 Simple 28997571 A . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -1.5 0.4 Uncertain significance 0 -128163 Simple 587780231 C . Uncertain significance 2 3 Fanconi anemia;not specified;Neoplasm of the breast 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -128164 Simple 587780232 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2017-06-07 -0.51 2.0 Uncertain significance 0 -128165 Simple 587781481 AC . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.2 0.0 Uncertain significance 0 -128166 Simple 587778134 AAAA . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 29.4 0.6666666666666666 Pathogenic 1 -128167 Simple 147755155 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -1.2 0.0 Uncertain significance 0 -128168 Simple 587780234 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2017-07-03 -0.51 2.0 Uncertain significance 0 -128169 Simple 587780235 T . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.74 0.6666666666666666 Uncertain significance 0 -128170 Simple 587780236 AA . Pathogenic/Likely pathogenic 2 3 Fanconi anemia, complementation group J;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2016-11-18 15.0 1.0 Pathogenic 1 -128171 Simple 587780237 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -0.51 2.0 Uncertain significance 0 -128172 Simple 587780238 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2016-03-26 -0.78 2.3333333333333335 Uncertain significance 0 -128173 Simple 587780239 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -1.2 0.0 Uncertain significance 0 -128174 Simple 587780240 AA . Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-12 9.0 0.0 Pathogenic/Likely pathogenic 1 -128175 Simple 200894063 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -1.2 0.25 Uncertain significance 0 -128177 Simple 587780242 G . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -1.17 0.75 Uncertain significance 0 -128179 Simple 587780244 C . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -1.7999999999999998 0.5 Uncertain significance 0 -128180 Simple 140233356 C . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -128183 Simple 367816363 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -128184 Simple 587780247 A . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -1.5 0.4 Uncertain significance 0 -128185 Simple 150813402 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-04-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -128186 Simple 587780248 G . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.7999999999999998 0.6666666666666666 Uncertain significance 0 -128188 Simple 587780249 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-10 -0.48 3.0 Uncertain significance 0 -128189 Simple 45603843 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.2 0.5 Uncertain significance 0 -128191 Simple 587780251 G . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.2 0.0 Uncertain significance 0 -128192 Simple 4988346 T . Benign/Likely benign 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -31.8 1.0 Benign 1 -128193 Simple 4988347 G . Benign/Likely benign 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -24.0 0.6666666666666666 Benign 1 -128194 Simple 550707862 C . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -9.0 0.0 Benign/Likely benign 1 -128195 Simple 28997569 A . Likely benign 2 8 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -23.1 1.0 Benign/Likely benign 1 -128196 Simple 550031006 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.2 0.25 Uncertain significance 0 -128197 Simple 45624635 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-22 -0.87 1.3333333333333333 Uncertain significance 0 -128198 Simple 28997570 C . Benign/Likely benign 2 8 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -25.5 1.125 Benign 1 -128200 Simple 201208890 G . Benign/Likely benign 2 6 Melanoma-pancreatic cancer syndrome;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-11 -29.4 0.8333333333333334 Benign 1 -128201 Simple 587781410 - . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-09-21 15.0 0.2 Pathogenic 1 -128202 Simple 587780253 T . Uncertain significance 2 6 Fanconi anemia;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2017-04-07 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -128203 Simple 201523760 T . Uncertain significance 2 6 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -1.7999999999999998 0.5 Uncertain significance 0 -128204 Simple 587780254 T . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -0.8999999999999999 0.0 Uncertain significance 0 -128205 Simple 587780255 G . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -1.2 0.0 Uncertain significance 0 -128209 Simple 587780259 G . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-06-15 23.4 1.0 Pathogenic 1 -128210 Simple 149331537 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -128217 Simple 587780264 C . Uncertain significance 2 2 not specified 2016-04-18 -0.51 2.5 Uncertain significance 0 -128218 Simple 201948472 C . Uncertain significance 2 2 not specified 2016-06-26 -0.51 2.5 Uncertain significance 0 -128222 Simple 150207999 A . Benign/Likely benign 2 2 not specified 2017-01-18 -8.4 2.0 Benign/Likely benign 0 -128224 Simple 724159832 - . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-30 -5.1 2.5 Likely benign 0 -128229 Simple 587780269 T . Uncertain significance 2 2 not specified 2016-04-06 -0.51 2.5 Uncertain significance 0 -128254 Simple 10966 G . Benign/Likely benign 2 2 not specified;Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -128256 Simple 137831 C . Benign/Likely benign 2 1 not specified 2013-10-24 . 4.0 . 0 -128257 Simple 1799932 T . Benign/Likely benign 2 1 not specified 2013-09-09 . 4.0 . 0 -128259 Simple 146956806 A . Likely benign 2 2 not specified 2016-06-03 -5.1 2.5 Likely benign 0 -128263 Simple 58704474 A . Benign/Likely benign 2 2 Baraitser-Winter syndrome 1;not specified 2017-08-07 -11.4 1.0 Benign/Likely benign 0 -128264 Simple 11546939 T . Benign/Likely benign 2 2 Baraitser-Winter syndrome 1;not specified 2017-08-11 -11.4 1.0 Benign/Likely benign 0 -128267 Simple 1139807 T . Benign 2 3 not specified 2015-11-13 -12.600000000000001 4.0 Benign/Likely benign 1 -128268 Simple 1139406 G . Benign 2 3 not specified 2015-11-13 -12.600000000000001 4.0 Benign/Likely benign 1 -128269 Simple 11549223 C . Benign 2 3 not specified 2015-11-13 -13.200000000000001 3.6666666666666665 Benign/Likely benign 1 -128270 Simple 2230158 A . Benign 2 4 not specified 2015-11-13 -17.4 3.75 Benign/Likely benign 1 -128271 Simple 143978597 A . Likely benign 2 3 not specified 2015-11-03 -7.2 3.0 Likely benign 0 -128272 Simple 2230159 A . Benign 2 4 not specified 2015-11-13 -17.4 3.75 Benign/Likely benign 1 -128273 Simple 11549708 A . Benign/Likely benign 2 3 not specified;Autosomal recessive cerebellar ataxia;Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -128277 Simple 113199851 A . Benign/Likely benign 2 3 Adenylosuccinate lyase deficiency;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -128278 Simple 11089991 T . Benign/Likely benign 2 4 Adenylosuccinate lyase deficiency;not specified;not provided 2017-08-12 -18.6 1.75 Benign/Likely benign 0 -128281 Simple 12011040 A . Benign 2 2 not specified 2016-06-21 -10.2 2.5 Benign/Likely benign 1 -128286 Simple 11080572 T . Benign/Likely benign 2 3 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 0 -128287 Simple 11553521 C . Benign/Likely benign 2 3 not specified;Spinocerebellar Ataxia, Dominant 2017-07-12 -16.2 1.6666666666666667 Benign/Likely benign 0 -128288 Simple 74584184 A . Benign/Likely benign 2 1 Berardinelli-Seip congenital lipodystrophy;not specified 2016-06-14 . 1.0 . 0 -128291 Simple 150359724 G . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-08-08 -12.0 0.5 Benign/Likely benign 0 -128292 Simple 2799066 C . Benign 2 2 not specified 2016-01-19 -9.600000000000001 3.0 Benign/Likely benign 1 -128293 Simple 28484890 G . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-08-02 . 0.0 . 0 -128294 Simple 113288277 T . Benign 2 3 not specified;Myasthenic syndrome, congenital, 8 2017-07-28 -16.2 1.6666666666666667 Benign/Likely benign 1 -128295 Simple 75774767 T . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-08-02 . 0.0 . 0 -128296 Simple 6657048 T . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-08-11 . 0.0 . 0 -128297 Simple 2465128 G . Benign 2 2 not specified 2016-01-19 -9.600000000000001 3.0 Benign/Likely benign 1 -128298 Simple 150132566 C . Benign/Likely benign 2 3 not specified;not provided;Myasthenic syndrome, congenital, 8 2017-08-02 -15.0 0.6666666666666666 Benign/Likely benign 0 -128299 Simple 142416636 G . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-08-11 . 0.0 . 0 -128300 Simple 146358566 C . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-07-26 -12.0 0.5 Benign/Likely benign 0 -128301 Simple 76264143 C . Benign/Likely benign 2 2 not specified 2016-09-28 -8.4 1.5 Benign/Likely benign 0 -128302 Simple 10267 C . Benign 2 2 not specified 2016-01-19 -9.600000000000001 3.0 Benign/Likely benign 1 -128303 Simple 75361935 T . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-05-30 . 0.0 . 0 -128304 Simple 139294803 T . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -128305 Simple 184970403 T . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-06-22 . 0.0 . 0 -128306 Simple 201483077 A . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-06-22 . 0.0 . 0 -128307 Simple 9442391 C . Benign 2 2 not specified 2016-01-19 -9.600000000000001 3.0 Benign/Likely benign 1 -128308 Simple 75767981 T . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2016-11-23 . 1.0 . 0 -128309 Simple 111818381 A . Benign/Likely benign 2 2 not specified;not provided;Myasthenic syndrome, congenital, 8 2017-07-25 -9.0 0.0 Benign/Likely benign 0 -128310 Simple 115173026 T . Benign 2 2 not specified 2016-02-04 -10.2 2.5 Benign/Likely benign 1 -128311 Simple 115019873 T . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-08-02 -12.0 0.0 Benign/Likely benign 0 -128312 Simple 17160775 A . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-08-09 -12.0 0.5 Benign/Likely benign 0 -128313 Simple 17160776 T . Benign 2 3 not specified;Myasthenic syndrome, congenital, 8 2017-07-26 -16.2 1.6666666666666667 Benign/Likely benign 1 -128315 Simple 17160781 C . Benign/Likely benign 2 1 not specified 2016-09-20 . 1.0 . 0 -128316 Simple 17778478 T . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-07-26 -12.0 0.5 Benign/Likely benign 0 -128317 Simple 9803031 T . Benign 2 2 not specified 2016-01-19 -9.600000000000001 3.0 Benign/Likely benign 1 -128318 Simple 74685771 C . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-08-07 . 0.0 . 0 -128319 Simple 4275402 T . Benign 2 2 not specified 2016-01-19 -9.600000000000001 3.0 Benign/Likely benign 1 -128320 Simple 113789806 T . Benign/Likely benign 2 4 not specified;Myasthenic syndrome, congenital, 8 2017-08-04 -19.2 1.5 Benign/Likely benign 0 -128321 Simple 73777558 G . Benign/Likely benign 2 3 Joubert syndrome;not specified 2017-07-28 -11.7 1.0 Benign/Likely benign 0 -128322 Simple 35433555 T . Benign/Likely benign 2 2 Joubert syndrome;not specified 2017-02-09 -12.0 1.0 Benign/Likely benign 0 -128323 Simple 2273761 G . Benign/Likely benign 2 3 Joubert syndrome;not specified 2017-08-03 -13.2 1.6666666666666667 Benign/Likely benign 0 -128324 Simple 13312995 A . Benign/Likely benign 2 4 Joubert syndrome;not specified 2017-08-08 -19.8 1.25 Benign/Likely benign 0 -128326 Simple 41287054 C . Benign/Likely benign 2 4 Joubert syndrome;not specified 2017-08-11 -18.0 2.0 Benign/Likely benign 0 -128327 Simple 6940875 G . Benign/Likely benign 2 4 Joubert syndrome;not specified;not provided 2017-07-28 -17.1 1.25 Benign/Likely benign 0 -128328 Simple 35528530 G . Benign/Likely benign 2 2 Joubert syndrome;not specified 2017-02-22 -11.4 1.5 Benign/Likely benign 0 -128329 Simple 1800525 A . Benign/Likely benign 2 1 not specified 2015-09-21 . 2.0 . 0 -128330 Simple 113512196 C . Benign 2 2 Polyglandular autoimmune syndrome, type 1;not specified 2017-07-12 -10.2 2.0 Benign/Likely benign 1 -128332 Simple 74203920 T . Benign/Likely benign 2 2 Polyglandular autoimmune syndrome, type 1;not specified;not provided 2017-08-11 -9.0 0.0 Benign/Likely benign 0 -128336 Simple 1800521 C . Benign/Likely benign 2 1 not specified 2017-07-26 . 0.0 . 0 -128337 Simple 1133779 C . Benign/Likely benign 2 1 not specified 2017-07-26 . 0.0 . 0 -128338 Simple 878081 T . Benign/Likely benign 2 1 not specified 2012-07-27 . 5.0 . 0 -128340 Simple 1800520 G . Benign/Likely benign 2 1 not specified 2014-10-14 . 3.0 . 0 -128343 Simple 2760118 T . Benign/Likely benign 2 2 Succinate-semialdehyde dehydrogenase deficiency;not specified 2016-08-10 -12.0 1.0 Benign/Likely benign 0 -128344 Simple 3765310 T . Benign/Likely benign 2 3 Succinate-semialdehyde dehydrogenase deficiency;not specified 2017-08-10 -15.0 0.6666666666666666 Benign/Likely benign 0 -128345 Simple 2306618 C . Benign/Likely benign 2 4 Pyridoxine-dependent epilepsy;not specified 2017-06-11 -16.8 2.5 Benign/Likely benign 0 -128346 Simple 12514417 G . Benign/Likely benign 2 2 Pyridoxine-dependent epilepsy;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -128347 Simple 60720055 G . Benign/Likely benign 2 2 Pyridoxine-dependent epilepsy;not specified 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -128349 Simple 57902950 A . Benign/Likely benign 2 3 Pyridoxine-dependent epilepsy;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -128353 Simple 59848367 T . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -128354 Simple 61755863 G . Benign/Likely benign 2 2 not specified;not provided 2017-01-04 -8.7 1.5 Benign/Likely benign 0 -128355 Simple 75451833 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -128356 Simple 3195676 T . Benign/Likely benign 2 2 Alpha-methylacyl-CoA racemase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -128357 Simple 10941112 T . Benign/Likely benign 2 2 Alpha-methylacyl-CoA racemase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -128358 Simple 2287939 G . Benign/Likely benign 2 2 Alpha-methylacyl-CoA racemase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -128359 Simple 34677 A . Benign/Likely benign 2 2 Alpha-methylacyl-CoA racemase deficiency;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -128360 Simple 2278008 T . Benign/Likely benign 2 3 Alpha-methylacyl-CoA racemase deficiency;not specified;Oculocutaneous albinism 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -128387 Simple 3772165 T . Benign/Likely benign 2 1 not specified;Autosomal recessive cerebellar ataxia 2016-06-14 . 1.0 . 0 -128390 Simple 34969327 G . Benign/Likely benign 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified;not provided 2017-08-01 -16.8 1.3333333333333333 Benign/Likely benign 0 -128391 Simple 78266558 G . Benign/Likely benign 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-06-27 -17.4 1.0 Benign/Likely benign 0 -128393 Simple 116796602 G . Benign/Likely benign 2 2 not specified;not provided;Spastic paraplegia 2017-05-24 -9.0 0.5 Benign/Likely benign 0 -128395 Simple 75130619 T . Benign 2 2 not specified 2016-07-15 -10.2 2.5 Benign/Likely benign 1 -128396 Simple 144189610 T . Uncertain significance 2 2 not provided;Spastic paraplegia 2016-05-31 -0.51 2.5 Uncertain significance 0 -128398 Simple 115188375 G . Benign/Likely benign 2 3 not specified;not provided;Spastic paraplegia 2017-05-24 -15.0 0.6666666666666666 Benign/Likely benign 0 -128402 Simple 148499164 A . Uncertain significance 2 2 not provided;Spastic paraplegia 2016-08-24 -0.54 2.0 Uncertain significance 0 -128403 Simple 140843407 T . Benign 2 2 Spastic paraplegia 50, autosomal recessive;not specified 2017-07-12 -10.2 2.0 Benign/Likely benign 1 -128404 Simple 4134932 T . Benign 2 3 Spastic paraplegia 50, autosomal recessive;not specified 2017-07-31 -15.600000000000001 2.0 Benign/Likely benign 1 -128407 Simple 200969079 G . Uncertain significance 2 3 not specified;not provided;Spastic paraplegia 2016-04-04 -0.78 2.3333333333333335 Uncertain significance 0 -128416 Simple 1801701 T . Benign/Likely benign 2 7 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-27 -34.2 1.2857142857142858 Benign 1 -128417 Simple 1042031 T . Benign/Likely benign 2 6 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-26 -28.8 1.1666666666666667 Benign 1 -128418 Simple 1042034 T . Benign/Likely benign 2 6 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-27 -28.8 1.1666666666666667 Benign 1 -128420 Simple 679899 A . Benign/Likely benign 2 6 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-26 -28.8 1.1666666666666667 Benign 1 -128422 Simple 1367117 A . Benign/Likely benign 2 6 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-26 -28.8 1.1666666666666667 Benign 1 -128424 Simple 1041968 A . Benign/Likely benign 2 3 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2016-10-07 -12.0 1.0 Benign/Likely benign 0 -128425 Simple 693 A . Benign/Likely benign 2 4 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-27 -18.0 0.75 Benign/Likely benign 0 -128426 Simple 676210 A . Benign/Likely benign 2 6 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-27 -28.8 1.1666666666666667 Benign 1 -128437 Simple 2295580 C . Benign/Likely benign 2 2 not specified;Periventricular Heterotopia 2016-06-14 -7.2 2.5 Likely benign 1 -128438 Simple 2281582 T . Benign/Likely benign 2 1 not specified;Periventricular Heterotopia 2016-06-14 . 1.0 . 0 -128440 Simple 2295029 G . Benign/Likely benign 2 4 not specified;Periventricular Heterotopia 2016-06-14 -16.2 3.0 Benign/Likely benign 0 -128441 Simple 151221957 T . Uncertain significance 2 3 not specified;not provided;Periventricular Heterotopia 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -128447 Simple 35106300 T . Benign/Likely benign 2 3 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -128452 Simple 33944211 G . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -128453 Simple 146396078 T . Benign/Likely benign 2 3 Joubert syndrome 8;not specified 2017-08-07 -17.4 1.0 Benign/Likely benign 0 -128454 Simple 4986761 C . Benign/Likely benign 2 9 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -45.0 1.7777777777777777 Benign 1 -128455 Simple 2234997 A . Benign/Likely benign 2 6 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -26.4 1.8333333333333333 Benign 1 -128457 Simple 1800889 T . Benign/Likely benign 2 6 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -28.2 1.1666666666666667 Benign 1 -128458 Simple 1801516 A . Benign/Likely benign 2 6 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -30.6 1.5 Benign 1 -128459 Simple 3092910 C . Benign/Likely benign 2 8 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-15 -35.7 1.625 Benign 1 -128460 Simple 2235003 C . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -19.2 1.5 Benign/Likely benign 0 -128463 Simple 56290406 A . Benign/Likely benign 2 4 Parkinson disease 9;not specified;Spastic paraplegia 78, autosomal recessive 2017-07-31 -19.2 1.25 Benign/Likely benign 0 -128464 Simple 61739752 A . Benign/Likely benign 2 3 Parkinson disease 9;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -128465 Simple 2076603 A . Benign 2 2 Parkinson disease 9;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128466 Simple 9435662 A . Benign 2 2 Parkinson disease 9;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128467 Simple 79724242 T . Benign/Likely benign 2 2 Parkinson disease 9;not specified;Spastic paraplegia 78, autosomal recessive 2017-05-12 -8.1 2.0 Likely benign 1 -128468 Simple 3738815 T . Benign 2 2 Parkinson disease 9;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128469 Simple 55708915 A . Uncertain significance 2 2 Parkinson disease 9;not provided;Spastic paraplegia 78, autosomal recessive 2017-07-20 -0.51 2.0 Uncertain significance 0 -128470 Simple 761421 T . Benign 2 2 Parkinson disease 9;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128471 Simple 7531163 A . Benign 2 2 Parkinson disease 9;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128472 Simple 56126202 C . Benign/Likely benign 2 2 Parkinson disease 9;not specified;Spastic paraplegia 78, autosomal recessive 2017-05-24 -9.0 0.5 Benign/Likely benign 0 -128473 Simple 9435659 A . Benign 2 2 Parkinson disease 9;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128475 Simple 3170740 T . Benign 2 3 Parkinson disease 9;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -128476 Simple 56367069 T . Benign 2 3 Parkinson disease 9;not specified;Spastic paraplegia 78, autosomal recessive 2017-08-02 -15.0 2.3333333333333335 Benign/Likely benign 1 -128477 Simple 1063125 A . Benign/Likely benign 2 3 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 0 -128478 Simple 61734527 A . Benign/Likely benign 2 2 Familial hemiplegic migraine;not specified 2017-08-10 -9.6 2.5 Benign/Likely benign 0 -128479 Simple 17846714 T . Benign/Likely benign 2 4 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2017-08-14 -15.6 1.75 Benign/Likely benign 0 -128480 Simple 61734529 T . Benign/Likely benign 2 5 Familial hemiplegic migraine type 2;Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2017-08-14 -21.6 1.4 Benign/Likely benign 0 -128481 Simple 17846715 T . Benign/Likely benign 2 2 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-06-14 -6.0 1.0 Likely benign 1 -128483 Simple 3747626 T . Benign/Likely benign 2 4 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2017-02-23 -16.2 1.75 Benign/Likely benign 0 -128484 Simple 74123254 T . Benign/Likely benign 2 3 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2017-08-03 -12.0 0.6666666666666666 Benign/Likely benign 0 -128486 Simple 34217273 A . Benign/Likely benign 2 2 Mental retardation, X-linked, syndromic, Hedera type;not specified 2017-08-11 -10.2 2.0 Benign/Likely benign 0 -128487 Simple 35798522 C . Benign/Likely benign 2 2 Mental retardation, X-linked, syndromic, Hedera type;not specified 2017-07-26 -9.6 2.5 Benign/Likely benign 0 -128495 Simple 5959371 T . Benign/Likely benign 2 2 ATR-X syndrome;not specified 2017-08-07 -10.8 1.5 Benign/Likely benign 0 -128497 Simple 587780288 - . Uncertain significance 2 2 not specified;not provided 2014-08-27 -0.44999999999999996 3.5 Uncertain significance 0 -128520 Simple 7874056 G . Benign/Likely benign 2 1 3-Methylglutaconic aciduria;not specified 2016-06-14 . 1.0 . 0 -128523 Simple 17145652 T . Benign/Likely benign 2 1 Oculofaciocardiodental syndrome;not specified 2017-07-27 . 0.0 . 0 -128525 Simple 75383960 T . Benign/Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -128526 Simple 56185487 A . Benign/Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -128527 Simple 3816668 C . Benign/Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -128529 Simple 2306234 C . Benign/Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -128530 Simple 7167216 A . Benign/Likely benign 2 2 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-12 -9.0 1.0 Benign/Likely benign 0 -128533 Simple 6856 C . Benign/Likely benign 2 2 Berardinelli-Seip congenital lipodystrophy;Neurologic Disorders/Seipinopathy;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -128535 Simple 78651634 A . Benign/Likely benign 2 2 Combined oxidative phosphorylation deficiency 7;not specified;Spastic paraplegia 2017-08-02 -10.2 2.0 Benign/Likely benign 0 -128537 Simple 10424582 A . Benign 2 3 Neurodegeneration with brain iron accumulation 4;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -128538 Simple 79915936 G . Benign/Likely benign 2 3 Neurodegeneration with brain iron accumulation 4;not specified;Spastic paraplegia 43, autosomal recessive 2017-06-23 -14.4 1.0 Benign/Likely benign 0 -128544 Simple 16011 T . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-08-14 -11.4 1.0 Benign/Likely benign 0 -128545 Simple 16012 C . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-08-11 -11.4 1.0 Benign/Likely benign 0 -128546 Simple 16016 T . Benign/Likely benign 2 2 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified 2017-04-30 -11.4 1.0 Benign/Likely benign 0 -128547 Simple 16019 G . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-31 -12.0 0.5 Benign/Likely benign 0 -128548 Simple 16020 A . Benign/Likely benign 2 4 Episodic ataxia type 2;not specified;not provided;Epileptic encephalopathy, early infantile, 42 2017-07-19 -20.4 0.75 Benign/Likely benign 0 -128549 Simple 16021 A . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-19 -11.4 1.0 Benign/Likely benign 0 -128550 Simple 28413664 C . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-08-14 -11.4 1.0 Benign/Likely benign 0 -128551 Simple 16025 T . Benign/Likely benign 2 3 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified 2017-04-30 -16.2 1.6666666666666667 Benign/Likely benign 0 -128552 Simple 16026 A . Benign/Likely benign 2 3 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-19 -17.4 1.0 Benign/Likely benign 0 -128553 Simple 16030 G . Benign/Likely benign 2 2 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified 2017-04-30 -11.4 1.0 Benign/Likely benign 0 -128554 Simple 1800039 A . Benign/Likely benign 2 3 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified;Epileptic encephalopathy, early infantile, 42 2017-08-01 -17.4 0.6666666666666666 Benign/Likely benign 0 -128555 Simple 16044 A . Benign/Likely benign 2 3 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified;Epileptic encephalopathy, early infantile, 42 2017-08-12 -17.4 0.6666666666666666 Benign/Likely benign 0 -128556 Simple 41276894 T . Benign/Likely benign 2 3 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified;Epileptic encephalopathy, early infantile, 42 2017-08-03 -17.4 0.6666666666666666 Benign/Likely benign 0 -128557 Simple 16049 C . Benign/Likely benign 2 3 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-28 -17.4 1.0 Benign/Likely benign 0 -128558 Simple 16050 A . Benign/Likely benign 2 3 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-08-07 -16.2 1.6666666666666667 Benign/Likely benign 0 -128560 Simple 16006 C . Benign/Likely benign 2 2 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified 2017-04-30 -11.4 1.0 Benign/Likely benign 0 -128561 Simple 1805028 T . Benign/Likely benign 2 3 Juvenile myoclonic epilepsy;Episodic ataxia;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 0 -128562 Simple 143442080 G . Benign/Likely benign 2 5 Idiopathic generalized epilepsy;Juvenile myoclonic epilepsy;Episodic ataxia;not specified 2017-08-01 -21.0 1.8 Benign/Likely benign 0 -128563 Simple 61736804 T . Benign/Likely benign 2 3 Idiopathic generalized epilepsy;Juvenile myoclonic epilepsy;Episodic ataxia;not specified 2017-08-07 -18.0 0.6666666666666666 Benign/Likely benign 0 -128567 Simple 28364485 A . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -18.0 0.75 Benign/Likely benign 0 -128570 Simple 587780290 A . Pathogenic/Likely pathogenic 2 8 Limb-girdle muscular dystrophy, type 2A;not provided 2017-05-18 40.8 1.5 Pathogenic 1 -128572 Simple 35889956 T . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy, type 2A;not specified 2017-07-31 -18.0 0.6666666666666666 Benign/Likely benign 0 -128573 Simple 17593 C . Benign/Likely benign 2 6 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-09 -28.2 1.1666666666666667 Benign 1 -128574 Simple 62642519 A . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -18.0 0.75 Benign/Likely benign 0 -128575 Simple 78369269 A . Benign/Likely benign 2 2 Limb-girdle muscular dystrophy, type 2A;not specified 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -128586 Simple 7177192 C . Benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128588 Simple 2412541 T . Benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128589 Simple 11858113 C . Benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128590 Simple 11855334 T . Benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128593 Simple 8041534 G . Benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128595 Simple 12911738 G . Benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -128596 Simple 11070285 C . Benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128598 Simple 17747633 G . Benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -128601 Simple 200605040 T . Uncertain significance 2 2 not specified;not provided 2016-06-15 -0.54 2.0 Uncertain significance 0 -128603 Simple 76098847 G . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -128606 Simple 377578399 A . Uncertain significance 2 2 not specified;not provided 2017-03-10 -0.51 2.0 Uncertain significance 0 -128607 Simple 76371152 G . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -128610 Simple 10029 T . Benign/Likely benign 2 2 not specified;Primary pulmonary hypertension 3 2017-04-25 -10.8 1.5 Benign/Likely benign 0 -128624 Simple 200121704 T . Benign/Likely benign 2 2 not specified;not provided 2016-11-15 -8.4 1.5 Benign/Likely benign 0 -128629 Simple 8055909 T . Benign/Likely benign 2 1 not specified;Myopathy, centronuclear, 4 2017-08-09 . 0.0 . 0 -128630 Simple 142136104 G . Benign 2 2 not specified;Myopathy, centronuclear, 4 2017-07-24 -12.0 0.5 Benign/Likely benign 1 -128631 Simple 2071950 G . Benign 2 1 not specified 2013-08-15 . 4.0 . 0 -128633 Simple 61998209 A . Benign/Likely benign 2 1 not specified;Myopathy, centronuclear, 4 2017-07-14 . 0.0 . 0 -128635 Simple 13706 A . Benign/Likely benign 2 1 not specified;Meier-Gorlin syndrome 2016-06-14 . 1.0 . 0 -128636 Simple 1130199 C . Benign/Likely benign 2 1 not specified;Meier-Gorlin syndrome 2016-06-14 . 1.0 . 0 -128638 Simple 4135012 A . Benign 2 1 not specified 2013-06-21 . 4.0 . 0 -128656 Simple 142647750 T . Benign 2 2 not specified;not provided 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -128662 Simple 144843732 T . Uncertain significance 2 2 not specified;not provided 2016-05-11 -0.48 3.0 Uncertain significance 0 -128684 Simple 113056079 G . Benign 2 2 not specified;Monogenic diabetes 2016-06-07 -10.2 2.5 Benign/Likely benign 1 -128704 Simple 587780311 G . Uncertain significance 2 2 not specified;not provided 2016-05-20 -0.51 2.5 Uncertain significance 0 -128705 Simple 113941736 C . Benign/Likely benign 2 2 not specified;not provided 2017-03-10 -7.8 1.5 Likely benign 1 -128713 Simple 587780312 C . Uncertain significance 2 2 Nemaline myopathy 7;not provided 2017-08-09 -0.51 2.0 Uncertain significance 0 -128715 Simple 61115650 T . Benign 2 2 Familial infantile myasthenia;not specified 2017-06-28 -10.2 2.0 Benign/Likely benign 1 -128716 Simple 115126024 A . Benign 2 2 Familial infantile myasthenia;not specified 2017-06-28 -10.2 2.0 Benign/Likely benign 1 -128717 Simple 8178991 A . Benign/Likely benign 2 2 Familial infantile myasthenia;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -128718 Simple 3810948 G . Benign/Likely benign 2 2 Familial infantile myasthenia;not specified 2017-08-07 -10.8 1.5 Benign/Likely benign 0 -128719 Simple 8178992 C . Benign 2 4 not specified 2016-03-28 -20.4 2.5 Benign/Likely benign 1 -128720 Simple 7073028 T . Benign 2 2 Familial infantile myasthenia;not specified 2017-06-28 -10.2 2.0 Benign/Likely benign 1 -128721 Simple 80097077 A . Benign/Likely benign 2 3 Familial infantile myasthenia;not specified;not provided 2017-07-14 -15.0 0.6666666666666666 Benign/Likely benign 0 -128722 Simple 3793801 T . Benign/Likely benign 2 2 Familial infantile myasthenia;not specified 2017-08-11 -11.4 1.0 Benign/Likely benign 0 -128724 Simple 3810950 A . Benign 2 5 not specified 2016-08-04 -27.6 1.8 Benign 0 -128725 Simple 78925077 G . Benign/Likely benign 2 1 Familial infantile myasthenia;not specified 2017-06-28 . 0.0 . 0 -128726 Simple 8178990 T . Benign/Likely benign 2 3 Familial infantile myasthenia;not specified 2017-08-11 -17.4 1.0 Benign/Likely benign 0 -128728 Simple 80067609 A . Benign/Likely benign 2 3 Muscular dystrophy, congenital, megaconial type;not specified 2017-07-31 -17.4 1.0 Benign/Likely benign 0 -128729 Simple 86337 A . Benign/Likely benign 2 2 not specified;Congenital Muscular Dystrophy, CHKB-related 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -128730 Simple 141381896 C . Benign/Likely benign 2 4 Muscular dystrophy, congenital, megaconial type;not specified;not provided 2017-07-07 -18.0 0.75 Benign/Likely benign 0 -128732 Simple 187184327 T . Benign/Likely benign 2 2 not specified 2017-11-08 -7.2 2.0 Likely benign 1 -128733 Simple 6739001 A . Benign/Likely benign 2 3 Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-06-27 -12.0 0.6666666666666666 Benign/Likely benign 0 -128734 Simple 112674580 G . Benign/Likely benign 2 5 Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-07-25 -24.0 0.6 Benign 1 -128735 Simple 2229957 A . Benign/Likely benign 2 3 Multiple pterygium syndrome Escobar type;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -128737 Simple 56298562 A . Benign/Likely benign 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Nocturnal frontal lobe epilepsy 2017-07-28 -15.6 2.0 Benign/Likely benign 0 -128738 Simple 2565061 A . Benign/Likely benign 2 2 not specified;Nocturnal frontal lobe epilepsy 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -128739 Simple 891398 C . Benign/Likely benign 2 3 not specified;Nocturnal frontal lobe epilepsy 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -128740 Simple 2472553 A . Benign/Likely benign 2 3 not specified;Nocturnal frontal lobe epilepsy 2016-07-07 -16.2 2.0 Benign/Likely benign 0 -128741 Simple 56229264 A . Benign/Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Nocturnal frontal lobe epilepsy 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -128742 Simple 114294066 A . Benign/Likely benign 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Nocturnal frontal lobe epilepsy 2017-07-13 -15.6 2.0 Benign/Likely benign 0 -128743 Simple 75593857 T . Benign/Likely benign 2 4 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2016-10-30 -18.9 2.25 Benign/Likely benign 0 -128744 Simple 75221202 A . Benign/Likely benign 2 4 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2016-10-30 -18.3 2.5 Benign/Likely benign 0 -128745 Simple 113168860 T . Benign/Likely benign 2 4 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2016-10-30 -18.3 2.5 Benign/Likely benign 0 -128746 Simple 142137599 T . Uncertain significance 2 2 not specified;not provided 2015-08-20 -0.48 3.0 Uncertain significance 0 -128747 Simple 2273506 A . Benign/Likely benign 2 1 Epilepsy, nocturnal frontal lobe, type 1;not specified 2017-04-11 . 0.0 . 0 -128749 Simple 1044393 G . Benign/Likely benign 2 2 Epilepsy, nocturnal frontal lobe, type 1;not specified 2017-05-24 -12.0 0.5 Benign/Likely benign 0 -128750 Simple 1044394 G . Benign/Likely benign 2 2 Epilepsy, nocturnal frontal lobe, type 1;not specified 2017-05-24 -12.0 0.5 Benign/Likely benign 0 -128751 Simple 76927517 C . Benign/Likely benign 2 3 not specified;Myasthenic syndrome, congenital, 2a, slow-channel;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-07-25 -15.0 0.6666666666666666 Benign/Likely benign 0 -128752 Simple 2302765 C . Benign/Likely benign 2 3 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -128754 Simple 17856697 G . Benign 2 4 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -128755 Simple 3762528 C . Benign/Likely benign 2 3 Multiple pterygium syndrome Escobar type;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-09-23 -12.0 1.0 Benign/Likely benign 0 -128756 Simple 55921262 A . Benign/Likely benign 2 4 Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-07-28 -18.0 0.75 Benign/Likely benign 0 -128757 Simple 2245601 G . Benign 2 5 Multiple pterygium syndrome Escobar type;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 -27.0 2.0 Benign 0 -128758 Simple 115841867 T . Benign/Likely benign 2 2 Lethal multiple pterygium syndrome;not specified;not provided 2017-08-09 -9.0 0.0 Benign/Likely benign 0 -128760 Simple 114454383 C . Benign/Likely benign 2 2 Myasthenic syndrome, congenital, 4a, slow-channel;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -128761 Simple 2075763 A . Benign/Likely benign 2 2 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-07-08 -12.0 1.0 Benign/Likely benign 0 -128762 Simple 33978919 A . Benign 2 3 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -128763 Simple 55681486 C . Benign/Likely benign 2 3 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-07-29 -13.2 2.0 Benign/Likely benign 0 -128765 Simple 72835059 A . Benign/Likely benign 2 3 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-07-29 -13.2 2.0 Benign/Likely benign 0 -128766 Simple 34563587 A . Benign/Likely benign 2 3 Myasthenic syndrome, congenital, 4a, slow-channel;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -128767 Simple 33970119 A . Benign/Likely benign 2 3 Myasthenic syndrome, congenital, 4a, slow-channel;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-08-11 -15.0 0.6666666666666666 Benign/Likely benign 0 -128768 Simple 4790235 A . Benign/Likely benign 2 4 Myasthenic syndrome, congenital, 4a, slow-channel;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-08-08 -19.2 1.5 Benign/Likely benign 0 -128769 Simple 582736 A . Benign 2 2 not specified 2016-10-06 -10.2 2.5 Benign/Likely benign 1 -128776 Simple 77595156 C . Benign/Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -128777 Simple 11552531 C . Benign/Likely benign 2 4 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-08-01 -17.4 2.25 Benign/Likely benign 0 -128778 Simple 1800209 G . Benign/Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -128779 Simple 36038805 C . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-07-19 -12.6 2.0 Benign/Likely benign 0 -128780 Simple 41287036 T . Uncertain significance 2 4 Neuronal ceroid lipofuscinosis;not specified;not provided;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-10-19 -1.1099999999999999 1.25 Uncertain significance 0 -128781 Simple 9565308 T . Benign/Likely benign 2 3 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -128782 Simple 77416795 T . Benign/Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -128783 Simple 34481987 G . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -128784 Simple 587780315 - . Pathogenic/Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 5 2014-11-20 6.6 3.5 Likely pathogenic 1 -128785 Simple 117038427 A . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-08-14 -14.4 2.6666666666666665 Benign/Likely benign 0 -128786 Simple 149692285 A . Benign/Likely benign 2 4 Neuronal ceroid lipofuscinosis;not specified 2017-08-01 -21.0 2.0 Benign/Likely benign 0 -128787 Simple 587780316 C . Uncertain significance 2 2 not specified;not provided 2017-06-23 -0.51 2.0 Uncertain significance 0 -128788 Simple 34030778 T . Benign/Likely benign 2 5 Neuronal ceroid lipofuscinosis;not specified;not provided 2017-08-01 -23.1 2.2 Benign/Likely benign 0 -128790 Simple 935105 C . Benign 2 2 not specified 2016-01-26 -9.600000000000001 3.0 Benign/Likely benign 1 -128791 Simple 1056019 T . Benign 2 2 not specified 2016-01-05 -9.600000000000001 3.0 Benign/Likely benign 1 -128792 Simple 2229929 C . Benign/Likely benign 2 2 Myopathy, congenital, compton-north;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -128793 Simple 2229930 G . Benign 2 3 Myopathy, congenital, compton-north;not specified 2017-08-09 -15.600000000000001 2.0 Benign/Likely benign 1 -128794 Simple 34326474 A . Benign/Likely benign 2 2 Myopathy, congenital, compton-north;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -128795 Simple 61754102 C . Benign/Likely benign 2 3 Myopathy, congenital, compton-north;not specified 2017-07-17 -14.1 1.6666666666666667 Benign/Likely benign 0 -128796 Simple 34346038 T . Benign/Likely benign 2 1 Myopathy, congenital, compton-north;not specified 2017-08-02 . 0.0 . 0 -128797 Simple 57340925 T . Benign/Likely benign 2 3 Myopathy, congenital, compton-north;not specified 2017-08-02 -18.0 0.3333333333333333 Benign/Likely benign 0 -128798 Simple 34456867 T . Benign/Likely benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-07-12 -12.6 1.6666666666666667 Benign/Likely benign 0 -128799 Simple 73471053 A . Benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-08-10 -16.2 1.3333333333333333 Benign/Likely benign 1 -128800 Simple 79039458 T . Benign/Likely benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-07-20 -16.2 1.6666666666666667 Benign/Likely benign 0 -128801 Simple 587780319 T . Uncertain significance 2 2 not specified;not provided 2015-10-30 -0.51 2.5 Uncertain significance 0 -128802 Simple 61732849 T . Benign/Likely benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-08-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -128803 Simple 61732853 T . Benign/Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-07-27 -15.0 2.0 Benign/Likely benign 0 -128804 Simple 146225600 A . Uncertain significance 2 4 not specified;not provided 2017-08-23 -1.08 1.5 Uncertain significance 0 -128807 Simple 79777576 T . Benign/Likely benign 2 5 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-07-28 -19.8 2.2 Benign/Likely benign 0 -128808 Simple 587780320 G . Uncertain significance 2 3 Autism 15;Cortical dysplasia-focal epilepsy syndrome;not specified;not provided 2017-08-07 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -128810 Simple 11054 T . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -128812 Simple 141237809 T . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified 2017-07-17 -11.1 1.6666666666666667 Benign/Likely benign 0 -128814 Simple 1042930 A . Benign/Likely benign 2 5 Bethlem myopathy 1;GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Collagen VI-related myopathy;not specified;Myosclerosis 2017-07-20 -19.2 1.4 Benign/Likely benign 0 -128815 Simple 117931394 A . Benign/Likely benign 2 7 Bethlem myopathy 1;GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Collagen VI-related myopathy;not specified;Myosclerosis 2017-07-26 -38.4 1.0 Benign 1 -128817 Simple 370146203 A . Uncertain significance 2 2 not specified 2016-07-12 -0.5700000000000001 1.5 Uncertain significance 0 -128818 Simple 34503558 A . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2017-07-17 -12.0 0.5 Benign/Likely benign 0 -128820 Simple 35556524 T . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2017-07-14 -12.0 0.5 Benign/Likely benign 0 -128821 Simple 111595697 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified 2017-06-27 -20.4 1.0 Benign/Likely benign 0 -128822 Simple 142851023 A . Uncertain significance 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not specified;not provided;Dystonia 27 2017-05-23 -1.08 1.75 Uncertain significance 0 -128823 Simple 111859552 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-02 -16.2 1.75 Benign/Likely benign 0 -128825 Simple 55866379 A . Benign/Likely benign 2 3 Endplate acetylcholinesterase deficiency;not specified;Congenital Myasthenic Syndrome, Recessive 2017-08-04 -15.0 0.6666666666666666 Benign/Likely benign 0 -128826 Simple 750387 C . Benign/Likely benign 2 4 Endplate acetylcholinesterase deficiency;not specified;Congenital Myasthenic Syndrome, Recessive 2017-08-04 -19.2 1.5 Benign/Likely benign 0 -128827 Simple 6782980 C . Benign/Likely benign 2 5 Endplate acetylcholinesterase deficiency;not specified;Congenital Myasthenic Syndrome, Recessive 2017-07-14 -24.6 1.6 Benign 1 -128828 Simple 6818847 A . Benign/Likely benign 2 3 not specified;Coenzyme Q10 deficiency, primary 2016-08-23 -15.0 2.6666666666666665 Benign/Likely benign 0 -128829 Simple 6535454 G . Benign/Likely benign 2 2 not specified;Coenzyme Q10 deficiency, primary 2016-06-14 -9.0 3.5 Benign/Likely benign 0 -128830 Simple 1129617 A . Benign/Likely benign 2 2 not specified;Coenzyme Q10 deficiency, primary 2016-06-14 -6.0 3.5 Likely benign 1 -128836 Simple 2231687 G . Benign/Likely benign 2 2 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -9.0 3.5 Benign/Likely benign 0 -128837 Simple 34624984 A . Benign/Likely benign 2 2 Deficiency of ferroxidase;not specified 2017-05-12 -9.0 0.5 Benign/Likely benign 0 -128838 Simple 1053709 G . Benign/Likely benign 2 3 Deficiency of ferroxidase;not specified 2017-07-17 -12.6 2.0 Benign/Likely benign 0 -128839 Simple 115552500 T . Benign 2 2 Deficiency of ferroxidase;not specified 2017-07-16 -10.2 2.0 Benign/Likely benign 1 -128841 Simple 34394958 G . Benign/Likely benign 2 4 Deficiency of ferroxidase;Hermansky-Pudlak syndrome;not specified 2017-07-23 -16.2 1.5 Benign/Likely benign 0 -128845 Simple 10957393 G . Benign/Likely benign 2 2 Temporal epilepsy, familial;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -128846 Simple 17853192 C . Benign/Likely benign 2 2 Temporal epilepsy, familial;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -128847 Simple 17343819 C . Benign/Likely benign 2 2 Temporal epilepsy, familial;not specified 2016-07-07 -9.0 1.0 Benign/Likely benign 0 -128849 Simple 1047883 G . Benign/Likely benign 2 3 Congenital hyperammonemia, type I;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 0 -128850 Simple 2229589 T . Benign/Likely benign 2 3 Congenital hyperammonemia, type I;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 0 -128851 Simple 2287599 G . Benign/Likely benign 2 2 Congenital hyperammonemia, type I;not specified;not provided 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -128852 Simple 1047891 A . Benign/Likely benign 2 2 Congenital hyperammonemia, type I;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -128853 Simple 587780323 G . Uncertain significance 2 2 Congenital hyperammonemia, type I;not provided 2016-06-14 -0.54 2.0 Uncertain significance 0 -128858 Simple 4533 A . Benign/Likely benign 2 4 Progressive myoclonic epilepsy;Unverricht-Lundborg syndrome;not specified 2017-07-21 -18.6 1.75 Benign/Likely benign 0 -128860 Simple 3027238 C . Benign/Likely benign 2 3 not specified;Dyskeratosis Congenita, Recessive 2016-08-08 -18.0 1.0 Benign/Likely benign 0 -128861 Simple 3826543 C . Benign/Likely benign 2 2 not specified;Dyskeratosis Congenita, Recessive 2016-08-08 -12.0 1.0 Benign/Likely benign 0 -128862 Simple 74506939 A . Benign/Likely benign 2 2 not specified;Dyskeratosis Congenita, Recessive 2016-12-23 -12.0 1.0 Benign/Likely benign 0 -128873 Simple 17571 A . Benign/Likely benign 2 3 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -128874 Simple 114051835 A . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-07-18 -13.2 1.6666666666666667 Benign/Likely benign 0 -128875 Simple 2230067 A . Benign/Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -128876 Simple 11555039 G . Benign/Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -128877 Simple 147278302 T . Benign/Likely benign 2 6 Neuronal ceroid lipofuscinosis;not specified;not provided;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-08-14 -29.4 1.0 Benign 1 -128884 Simple 116717961 G . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;not provided;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-09-12 -17.4 0.5 Benign/Likely benign 0 -128888 Simple 3731980 C . Benign/Likely benign 2 2 Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities;not specified 2017-07-10 -9.0 0.5 Benign/Likely benign 0 -128891 Simple 61731491 A . Benign/Likely benign 2 3 Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities;not specified 2017-05-12 -13.2 1.6666666666666667 Benign/Likely benign 0 -128894 Simple 61733129 T . Benign/Likely benign 2 1 Miller syndrome;not specified 2016-06-14 . 1.0 . 0 -128895 Simple 3213422 C . Benign/Likely benign 2 2 Miller syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -128896 Simple 1127051 T . Benign/Likely benign 2 1 not specified 2015-05-06 . 2.0 . 0 -128904 Simple 6811856 C . Benign 2 3 not specified 2016-02-05 -14.4 3.0 Benign/Likely benign 1 -128905 Simple 6831659 A . Benign 2 3 not specified 2016-02-19 -14.4 3.0 Benign/Likely benign 1 -128906 Simple 56769879 T . Benign/Likely benign 2 2 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-08-09 -10.8 1.5 Benign/Likely benign 0 -128907 Simple 6850908 T . Benign 2 3 not specified 2016-02-05 -14.4 3.0 Benign/Likely benign 1 -128908 Simple 16844464 T . Benign 2 4 not specified 2016-07-08 -20.4 2.5 Benign/Likely benign 1 -128909 Simple 16844467 T . Benign/Likely benign 2 1 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-07-25 . 0.0 . 0 -128910 Simple 16844470 T . Benign/Likely benign 2 2 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-08-09 -10.8 1.5 Benign/Likely benign 0 -128911 Simple 9684786 A . Benign 2 3 not specified 2016-04-28 -15.0 2.6666666666666665 Benign/Likely benign 1 -128912 Simple 199578351 A . Benign/Likely benign 2 1 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-06-05 . 0.0 . 0 -128913 Simple 16844422 A . Benign/Likely benign 2 1 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-08-02 . 0.0 . 0 -128914 Simple 59932476 A . Benign 2 3 not specified 2016-07-08 -15.0 2.6666666666666665 Benign/Likely benign 1 -128915 Simple 16844460 A . Benign/Likely benign 2 1 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-07-25 . 0.0 . 0 -128916 Simple 6811423 G . Benign 2 3 not specified 2016-02-19 -14.4 3.0 Benign/Likely benign 1 -128917 Simple 150728781 T . Benign/Likely benign 2 1 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-08-04 . 0.0 . 0 -128919 Simple 11552794 T . Benign/Likely benign 2 4 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1u 2017-08-09 -19.2 1.5 Benign/Likely benign 0 -128920 Simple 6781 G . Benign 2 4 Congenital disorder of glycosylation;not specified 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -128921 Simple 7997 C . Benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -128924 Simple 17512054 G . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-04 -19.2 1.4 Benign/Likely benign 0 -128927 Simple 17541505 T . Benign/Likely benign 2 6 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -23.4 2.0 Benign/Likely benign 0 -128928 Simple 10129889 A . Benign/Likely benign 2 4 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -128929 Simple 13749 C . Benign/Likely benign 2 5 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -19.2 1.6 Benign/Likely benign 0 -128930 Simple 149300055 T . Likely benign 2 4 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-07-11 -11.4 1.0 Benign/Likely benign 1 -128931 Simple 17541657 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-01 -15.0 0.75 Benign/Likely benign 0 -128932 Simple 1004903 A . Benign/Likely benign 2 5 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -19.2 1.6 Benign/Likely benign 0 -128933 Simple 17512082 A . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-03 -15.0 0.75 Benign/Likely benign 0 -128935 Simple 12893215 G . Benign/Likely benign 2 5 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -19.2 1.6 Benign/Likely benign 0 -128936 Simple 34690489 A . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-08 -19.2 1.4 Benign/Likely benign 0 -128937 Simple 17540957 T . Benign/Likely benign 2 6 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-10 -26.4 0.8333333333333334 Benign 1 -128938 Simple 2273437 C . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-03 -15.0 0.75 Benign/Likely benign 0 -128939 Simple 3818188 A . Benign/Likely benign 2 7 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -28.8 2.0 Benign 1 -128940 Simple 17512439 A . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-07-20 -20.4 1.0 Benign/Likely benign 0 -128941 Simple 17541158 T . Benign/Likely benign 2 6 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-09 -23.4 1.8333333333333333 Benign/Likely benign 0 -128942 Simple 17541179 G . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-04 -15.0 0.75 Benign/Likely benign 0 -128943 Simple 17512460 G . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-03 -15.0 0.75 Benign/Likely benign 0 -128944 Simple 8010870 G . Benign/Likely benign 2 5 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -19.2 1.6 Benign/Likely benign 0 -128946 Simple 34387018 T . Benign/Likely benign 2 2 Dysferlinopathy;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -128947 Simple 59915619 A . Benign/Likely benign 2 2 Dysferlinopathy;not specified 2017-03-02 -12.0 1.0 Benign/Likely benign 0 -128948 Simple 76576806 A . Benign/Likely benign 2 2 Dysferlinopathy;not specified 2017-07-17 -11.4 1.0 Benign/Likely benign 0 -128949 Simple 61738567 G . Benign/Likely benign 2 2 Dysferlinopathy;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -128956 Simple 76735188 C . Benign/Likely benign 2 1 not specified;not provided 2017-01-04 . 1.0 . 0 -128957 Simple 1529874 A . Benign 2 1 not specified 2013-08-15 . 4.0 . 0 -128960 Simple 115913738 T . Benign/Likely benign 2 3 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-08-10 -12.6 2.3333333333333335 Benign/Likely benign 0 -128961 Simple 116134831 T . Benign/Likely benign 2 3 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-08-01 -15.6 2.0 Benign/Likely benign 0 -128962 Simple 1266787 C . Benign/Likely benign 2 4 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-08-14 -21.0 0.5 Benign/Likely benign 0 -128963 Simple 200116252 C . Uncertain significance 2 4 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified;not provided 2017-07-21 -1.08 1.5 Uncertain significance 0 -128966 Simple 17851770 C . Benign/Likely benign 2 2 Juvenile myoclonic epilepsy;not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -128967 Simple 149315015 C . Benign/Likely benign 2 4 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-08-10 -18.6 1.75 Benign/Likely benign 0 -128968 Simple 3804506 T . Benign/Likely benign 2 2 Juvenile myoclonic epilepsy;not specified 2017-05-04 -9.0 0.5 Benign/Likely benign 0 -128969 Simple 9349626 G . Benign/Likely benign 2 2 Juvenile myoclonic epilepsy;not specified 2017-05-08 -9.0 0.5 Benign/Likely benign 0 -128970 Simple 1570624 A . Benign/Likely benign 2 3 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-07-17 -15.6 1.6666666666666667 Benign/Likely benign 0 -128975 Simple 11137198 A . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome;not specified 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -128976 Simple 78104547 A . Benign/Likely benign 2 3 Chromosome 9q deletion syndrome;not specified 2017-08-11 -16.2 1.6666666666666667 Benign/Likely benign 0 -128977 Simple 184814386 G . Uncertain significance 2 4 Chromosome 9q deletion syndrome;not specified;not provided 2017-07-18 -1.05 2.0 Uncertain significance 0 -128979 Simple 11137244 A . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome;not specified 2017-08-14 -12.0 0.5 Benign/Likely benign 0 -128981 Simple 144603232 G . Benign/Likely benign 2 3 Chromosome 9q deletion syndrome;not specified;not provided 2017-08-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -128982 Simple 34704821 T . Benign/Likely benign 2 5 Chromosome 9q deletion syndrome;not specified;not provided 2017-08-14 -25.8 1.0 Benign 1 -128983 Simple 75385605 A . Benign/Likely benign 2 2 Wolcott-Rallison dysplasia;not specified;not provided 2017-01-05 -9.0 1.0 Benign/Likely benign 0 -128988 Simple 13045 C . Benign/Likely benign 2 2 Wolcott-Rallison dysplasia;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -128990 Simple 78599355 C . Benign/Likely benign 2 1 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 . 1.0 . 0 -129004 Simple 61758155 T . Benign/Likely benign 2 4 Progressive myoclonic epilepsy;not specified 2017-04-12 -13.8 1.75 Benign/Likely benign 0 -129005 Simple 35230590 T . Benign/Likely benign 2 1 Lafora disease;not specified 2017-04-29 . 0.0 . 0 -129007 Simple 1799801 C . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -129008 Simple 1800124 G . Benign/Likely benign 2 3 Xeroderma pigmentosum, group F;Cockayne syndrome;not specified;not provided;Fanconi anemia, complementation group Q;Hereditary cancer-predisposing syndrome 2017-06-07 -11.4 1.3333333333333333 Benign/Likely benign 0 -129009 Simple 1047768 C . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -129010 Simple 2227869 C . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -129011 Simple 17655 C . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -129012 Simple 1047769 G . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -129013 Simple 2228528 T . Benign/Likely benign 2 5 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -26.4 2.2 Benign 1 -129014 Simple 2228524 C . Benign/Likely benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -21.6 2.0 Benign/Likely benign 0 -129015 Simple 2229760 A . Benign/Likely benign 2 3 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 0 -129016 Simple 2228526 C . Benign/Likely benign 2 5 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -26.4 2.2 Benign 1 -129017 Simple 2228527 C . Benign/Likely benign 2 5 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -26.4 2.2 Benign 1 -129018 Simple 4253211 G . Benign/Likely benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -21.6 2.0 Benign/Likely benign 0 -129019 Simple 4253013 T . Benign/Likely benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -21.6 2.0 Benign/Likely benign 0 -129020 Simple 2228529 C . Benign/Likely benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -21.6 2.0 Benign/Likely benign 0 -129021 Simple 16887018 T . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-06-26 -12.0 0.5 Benign/Likely benign 0 -129022 Simple 138164407 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia 2017-07-20 -13.8 1.3333333333333333 Benign/Likely benign 0 -129025 Simple 7158 T . Benign/Likely benign 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -129026 Simple 3208406 G . Benign/Likely benign 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129027 Simple 6564160 G . Benign 2 4 Spastic paraplegia 35;not specified;Spastic paraplegia 2017-08-07 -22.2 1.5 Benign/Likely benign 1 -129028 Simple 929881 A . Benign 2 4 Spastic paraplegia 35;not specified 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -129029 Simple 35874850 C . Benign/Likely benign 2 3 Spastic paraplegia 35;not specified;Spastic paraplegia 2017-08-01 -15.0 0.6666666666666666 Benign/Likely benign 0 -129031 Simple 2301865 A . Benign 2 3 Spastic paraplegia 35;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -129032 Simple 11554621 C . Benign/Likely benign 2 3 Spastic paraplegia 35;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -129033 Simple 11554620 G . Benign/Likely benign 2 4 Spastic paraplegia 35;not specified;Spastic paraplegia 2017-08-07 -19.2 1.5 Benign/Likely benign 0 -129034 Simple 55715053 T . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -24.6 2.8 Benign 1 -129035 Simple 28763952 A . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-16 -18.6 1.75 Benign/Likely benign 0 -129036 Simple 73348287 C . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -24.6 2.8 Benign 1 -129038 Simple 28763948 A . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -18.6 1.75 Benign/Likely benign 0 -129039 Simple 154001 T . Benign 2 6 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-05 -29.4 2.6666666666666665 Benign 0 -129040 Simple 28763946 T . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -22.2 2.4 Benign/Likely benign 0 -129041 Simple 28763943 G . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -18.6 1.75 Benign/Likely benign 0 -129042 Simple 34201226 A . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-24 -22.5 1.4 Benign/Likely benign 0 -129043 Simple 27713 A . Benign/Likely benign 2 3 Congenital contractural arachnodactyly;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 0 -129044 Simple 11955288 G . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -19.8 3.4 Benign/Likely benign 0 -129045 Simple 56025995 C . Benign/Likely benign 2 6 Congenital contractural arachnodactyly;not specified 2017-07-25 -30.6 2.3333333333333335 Benign 1 -129046 Simple 32209 C . Benign 2 6 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-07 -28.8 2.8333333333333335 Benign 0 -129047 Simple 17608368 T . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-27 -23.4 2.0 Benign/Likely benign 0 -129048 Simple 28763927 G . Benign/Likely benign 2 6 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-16 -25.8 2.8333333333333335 Benign 1 -129049 Simple 190450 G . Benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -22.8 3.4 Benign/Likely benign 1 -129050 Simple 34600572 A . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-20 -25.2 1.4 Benign 1 -129051 Simple 2291628 A . Benign/Likely benign 2 6 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-12 -25.8 2.8333333333333335 Benign 1 -129052 Simple 34119447 A . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-26 -18.0 2.0 Benign/Likely benign 0 -129053 Simple 10070365 A . Benign 2 6 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2016-12-19 -28.8 3.0 Benign 0 -129054 Simple 76756898 G . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-22 -19.2 1.5 Benign/Likely benign 0 -129056 Simple 111754012 T . Benign 2 4 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;not specified;Walker-Warburg congenital muscular dystrophy 2017-08-04 -21.0 1.75 Benign/Likely benign 1 -129058 Simple 77138370 G . Benign/Likely benign 2 3 not specified;Walker-Warburg congenital muscular dystrophy 2017-10-18 -11.4 0.6666666666666666 Benign/Likely benign 0 -129063 Simple 200787122 A . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype 2017-02-08 -17.1 1.5 Benign/Likely benign 0 -129065 Simple 201173693 T . Benign/Likely benign 2 6 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-10 -26.4 2.8333333333333335 Benign 1 -129067 Simple 73638274 A . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-19 -16.2 1.6666666666666667 Benign/Likely benign 0 -129069 Simple 35986650 A . Benign/Likely benign 2 5 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-08-03 -22.2 2.6 Benign/Likely benign 0 -129071 Simple 79391751 A . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-19 -16.2 1.6666666666666667 Benign/Likely benign 0 -129072 Simple 35015603 A . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-14 -15.0 2.3333333333333335 Benign/Likely benign 0 -129073 Simple 34439033 T . Benign/Likely benign 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-21 -21.6 1.75 Benign/Likely benign 0 -129074 Simple 112379782 G . Benign 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-08-03 -19.8 2.5 Benign/Likely benign 1 -129075 Simple 140084263 A . Benign 2 5 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-06-27 -28.8 1.2 Benign 0 -129076 Simple 12008807 A . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-27 -15.6 2.0 Benign/Likely benign 0 -129077 Simple 74667788 T . Benign 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-12 -19.8 2.5 Benign/Likely benign 1 -129078 Simple 2291562 T . Benign 2 3 not specified 2016-02-12 -14.4 3.0 Benign/Likely benign 1 -129079 Simple 115140972 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-31 -12.0 0.5 Benign/Likely benign 0 -129080 Simple 2291563 A . Benign 2 2 not specified 2016-02-12 -9.600000000000001 3.0 Benign/Likely benign 1 -129081 Simple 3734972 T . Benign 2 4 not specified 2016-02-08 -19.8 2.75 Benign/Likely benign 1 -129082 Simple 76046880 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-08 -12.0 0.5 Benign/Likely benign 0 -129083 Simple 75133741 T . Benign/Likely benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-02 -16.8 1.3333333333333333 Benign/Likely benign 0 -129084 Simple 3734973 G . Benign 2 4 not specified 2016-01-05 -19.8 2.75 Benign/Likely benign 1 -129085 Simple 35281128 A . Benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-09 -16.2 1.6666666666666667 Benign/Likely benign 1 -129087 Simple 34180031 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-08 -11.4 1.0 Benign/Likely benign 0 -129088 Simple 34373805 T . Benign 2 5 not specified 2016-02-08 -25.200000000000003 2.6 Benign 0 -129089 Simple 75770585 T . Benign 2 3 not specified 2016-02-12 -14.4 3.0 Benign/Likely benign 1 -129090 Simple 2291568 A . Benign 2 4 not specified 2016-03-01 -19.8 2.75 Benign/Likely benign 1 -129091 Simple 2291569 A . Benign 2 3 not specified 2016-02-08 -14.4 3.0 Benign/Likely benign 1 -129093 Simple 117517372 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-02 -10.8 1.5 Benign/Likely benign 0 -129094 Simple 3816884 C . Benign 2 4 not specified 2016-02-08 -19.8 2.75 Benign/Likely benign 1 -129095 Simple 34422412 G . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-08 -12.0 0.5 Benign/Likely benign 0 -129096 Simple 2291560 C . Benign 2 4 not specified 2016-02-08 -19.8 2.75 Benign/Likely benign 1 -129097 Simple 3816885 T . Benign 2 3 not specified 2016-02-12 -14.4 3.0 Benign/Likely benign 1 -129098 Simple 201149834 G . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-31 -9.0 0.0 Benign/Likely benign 0 -129099 Simple 2291561 C . Benign 2 4 not specified 2016-02-08 -19.8 2.75 Benign/Likely benign 1 -129100 Simple 28379666 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -129101 Simple 28437296 C . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -129102 Simple 11120047 C . Benign/Likely benign 2 2 Posterior column ataxia with retinitis pigmentosa;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -129109 Simple 146606219 C . Likely benign 2 2 not specified;Intellectual Disability with Language Impairment and Autistic Features 2016-06-14 -5.4 2.0 Likely benign 0 -129111 Simple 2232367 A . Benign/Likely benign 2 4 Insulin-dependent diabetes mellitus secretory diarrhea syndrome;not specified;not provided 2017-07-18 -17.1 1.25 Benign/Likely benign 0 -129120 Simple 2481598 G . Benign/Likely benign 2 3 not specified;Cardiovascular phenotype 2017-06-07 -17.4 1.0 Benign/Likely benign 0 -129122 Simple 5822325 A . Benign 2 3 Glycogen storage disease, type II;not specified 2017-05-07 -15.0 2.3333333333333335 Benign/Likely benign 1 -129123 Simple 1129647 C . Benign/Likely benign 2 2 Juvenile myoclonic epilepsy;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129124 Simple 41275339 T . Benign/Likely benign 2 1 Juvenile myoclonic epilepsy;not specified 2016-06-14 . 1.0 . 0 -129125 Simple 76224028 G . Benign/Likely benign 2 1 Idiopathic generalized epilepsy;Epilepsy, juvenile myoclonic 5;Epilepsy, childhood absence 4;not specified 2017-07-27 . 0.0 . 0 -129127 Simple 11135176 T . Benign/Likely benign 2 3 Familial febrile seizures 8;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;not specified 2017-04-28 -18.0 0.6666666666666666 Benign/Likely benign 0 -129128 Simple 61735412 A . Benign/Likely benign 2 3 Epilepsy, childhood absence 2;Familial febrile seizures 8;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;not specified 2017-08-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -129129 Simple 78261481 G . Benign/Likely benign 2 4 Epilepsy, childhood absence 2;Familial febrile seizures 8;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;not specified 2017-08-07 -15.6 1.75 Benign/Likely benign 0 -129130 Simple 2074899 T . Benign/Likely benign 2 4 Deficiency of guanidinoacetate methyltransferase;Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -16.2 1.75 Benign/Likely benign 0 -129131 Simple 2608555 T . Benign/Likely benign 2 1 Giant axonal neuropathy;not specified 2016-06-14 . 1.0 . 0 -129134 Simple 116262672 C . Benign/Likely benign 2 3 not specified;Atrioventricular septal defect 5;Monogenic diabetes 2017-08-11 -12.9 2.0 Benign/Likely benign 0 -129135 Simple 185325359 G . Benign/Likely benign 2 2 not specified;Atrioventricular septal defect 5;Monogenic diabetes 2017-07-28 -8.7 1.0 Benign/Likely benign 0 -129136 Simple 115193744 C . Benign/Likely benign 2 2 not specified;not provided 2016-12-02 -8.4 1.5 Benign/Likely benign 0 -129137 Simple 1145086 G . Benign/Likely benign 2 1 Arginine:glycine amidinotransferase deficiency;not specified 2016-06-14 . 1.0 . 0 -129138 Simple 1288775 A . Benign/Likely benign 2 2 Arginine:glycine amidinotransferase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -129139 Simple 34312177 A . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-08-04 -12.0 0.5 Benign/Likely benign 0 -129141 Simple 116093166 T . Benign/Likely benign 2 4 not specified;not provided;Monogenic diabetes 2017-03-17 -15.9 1.75 Benign/Likely benign 0 -129144 Simple 587780345 T . Pathogenic 2 5 Diabetes mellitus type 2;Maturity-onset diabetes of the young, type 2;Diabetes mellitus, gestational;not provided 2017-07-27 26.400000000000002 2.0 Pathogenic 0 -129145 Simple 587780346 G . Pathogenic/Likely pathogenic 2 2 Diabetes mellitus, gestational;not provided 2017-06-19 8.1 2.0 Likely pathogenic 1 -129147 Simple 2908274 A . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Transient Neonatal Diabetes, Recessive 2016-06-14 -24.0 1.0 Benign 1 -129148 Simple 113696246 T . Benign 2 3 not specified 2016-08-16 -16.2 2.0 Benign/Likely benign 1 -129151 Simple 6722492 C . Benign 2 4 not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -129153 Simple 78952091 A . Benign/Likely benign 2 4 Congenital myasthenic syndrome 12;not specified;Congenital Myasthenic Syndrome, Recessive 2017-08-04 -19.2 1.5 Benign/Likely benign 0 -129154 Simple 35289681 A . Benign/Likely benign 2 3 GM1 gangliosidosis;Morquio syndrome;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -129155 Simple 76094493 A . Benign/Likely benign 2 2 Diabetes mellitus, neonatal, with congenital hypothyroidism;not specified;Monogenic diabetes 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -129158 Simple 148199056 T . Benign/Likely benign 2 2 Diabetes mellitus, neonatal, with congenital hypothyroidism;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129159 Simple 806052 G . Benign/Likely benign 2 2 Diabetes mellitus, neonatal, with congenital hypothyroidism;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -129160 Simple 6415788 T . Benign/Likely benign 2 2 Diabetes mellitus, neonatal, with congenital hypothyroidism;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -129161 Simple 142544510 G . Benign/Likely benign 2 3 not specified;Hyperinsulinism, Dominant 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -129162 Simple 17096421 T . Benign/Likely benign 2 2 not specified;Hyperinsulinism, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -129163 Simple 141844887 T . Benign/Likely benign 2 1 not specified;Hyperinsulinism, Dominant 2016-06-14 . 1.0 . 0 -129164 Simple 9421572 C . Benign/Likely benign 2 3 Hyperinsulinism-hyperammonemia syndrome;not specified;Hyperinsulinism, Dominant 2017-04-28 -13.2 1.6666666666666667 Benign/Likely benign 0 -129165 Simple 197922 A . Benign/Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -129168 Simple 139058646 A . Benign 2 3 not specified;not provided 2017-09-06 -17.4 1.0 Benign/Likely benign 1 -129180 Simple 116354349 C . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 8;not specified 2017-07-11 -17.4 0.6666666666666666 Benign/Likely benign 0 -129181 Simple 79570612 C . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 8;not specified 2017-07-11 -17.4 0.6666666666666666 Benign/Likely benign 0 -129188 Simple 587780352 A . Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-08-16 -5.4 2.0 Likely benign 0 -129190 Simple 2229193 T . Benign/Likely benign 2 1 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-06-14 . 1.0 . 0 -129191 Simple 7193290 A . Benign/Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-08-11 -16.2 1.6666666666666667 Benign/Likely benign 0 -129192 Simple 9806806 G . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -129193 Simple 61753382 A . Benign/Likely benign 2 4 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-08-01 -18.6 1.75 Benign/Likely benign 0 -129194 Simple 77705198 A . Benign/Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-06-03 -10.8 1.3333333333333333 Benign/Likely benign 0 -129195 Simple 61731465 G . Benign/Likely benign 2 6 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified;not provided 2017-08-14 -28.2 2.1666666666666665 Benign 1 -129196 Simple 61758995 T . Benign/Likely benign 2 6 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified;not provided 2017-08-03 -24.6 1.6666666666666667 Benign 1 -129199 Simple 61731464 C . Benign/Likely benign 2 4 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-08-01 -15.6 2.25 Benign/Likely benign 0 -129201 Simple 1805522 A . Benign/Likely benign 2 2 not specified;Intellectual Disability, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -129202 Simple 3026160 A . Benign/Likely benign 2 2 not specified;Intellectual Disability, Dominant 2017-06-21 -9.0 0.5 Benign/Likely benign 0 -129203 Simple 45600931 A . Benign 2 4 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-08-07 -21.6 1.5 Benign/Likely benign 1 -129205 Simple 7301328 C . Benign/Likely benign 2 2 not specified;Intellectual Disability, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -129207 Simple 36031537 T . Benign/Likely benign 2 4 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27;Intellectual Disability, Dominant 2017-08-11 -19.2 1.25 Benign/Likely benign 0 -129208 Simple 1124894 A . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27;Intellectual Disability, Dominant 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -129214 Simple 138480528 A . Uncertain significance 2 4 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8;not provided 2017-06-16 -1.02 2.25 Uncertain significance 0 -129218 Simple 2071134 C . Benign/Likely benign 2 2 not specified 2015-12-02 -10.2 2.5 Benign/Likely benign 0 -129221 Simple 185987427 T . Benign/Likely benign 2 2 not specified 2016-02-17 -10.2 2.5 Benign/Likely benign 0 -129224 Simple 147155126 T . Benign/Likely benign 2 4 Sandhoff disease;not specified;not provided 2017-06-23 -17.7 0.75 Benign/Likely benign 0 -129225 Simple 2071303 C . Benign/Likely benign 2 2 not specified;Hereditary hemochromatosis 2016-06-14 -7.8 2.0 Likely benign 1 -129227 Simple 34056805 T . Benign/Likely benign 2 2 not specified;Maturity-onset diabetes of the young 2016-06-14 -7.2 2.5 Likely benign 1 -129229 Simple 2259820 T . Benign/Likely benign 2 3 not specified;Maturity-onset diabetes of the young 2017-07-12 -16.2 1.6666666666666667 Benign/Likely benign 0 -129230 Simple 2464196 A . Benign/Likely benign 2 4 not specified;Maturity-onset diabetes of the young 2017-07-12 -21.0 2.0 Benign/Likely benign 0 -129231 Simple 2464195 A . Benign/Likely benign 2 3 not specified;Maturity-onset diabetes of the young 2017-07-12 -16.2 1.6666666666666667 Benign/Likely benign 0 -129232 Simple 55834942 A . Benign/Likely benign 2 3 not specified;Maturity-onset diabetes of the young 2017-07-12 -13.2 1.6666666666666667 Benign/Likely benign 0 -129233 Simple 1800574 T . Benign/Likely benign 2 4 not specified;Maturity-onset diabetes of the young;Monogenic diabetes 2016-06-14 -17.4 2.5 Benign/Likely benign 0 -129234 Simple 1169289 G . Benign/Likely benign 2 3 not specified;Maturity-onset diabetes of the young 2017-07-12 -16.2 1.6666666666666667 Benign/Likely benign 0 -129235 Simple 587780357 A . Likely pathogenic 2 2 Diabetes mellitus type 1;not provided 2017-01-03 5.1 2.5 Likely pathogenic 0 -129236 Simple 56348580 C . Benign 2 5 not specified;Maturity-onset diabetes of the young 2017-07-12 -24.6 2.6 Benign 0 -129238 Simple 736823 T . Benign/Likely benign 2 5 not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant 2017-07-12 -21.0 1.8 Benign/Likely benign 0 -129239 Simple 745975 T . Benign/Likely benign 2 3 not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant 2017-07-12 -12.0 0.6666666666666666 Benign/Likely benign 0 -129240 Simple 1800961 T . Benign/Likely benign 2 6 not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Monogenic diabetes 2016-06-14 -23.4 2.0 Benign/Likely benign 0 -129241 Simple 8539 C . Benign/Likely benign 2 3 not specified;Spastic Paraplegia, Dominant 2016-06-14 -16.2 2.0 Benign/Likely benign 0 -129243 Simple 1050347 G . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -129262 Simple 4786350 G . Benign/Likely benign 2 2 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified 2017-05-17 -9.0 0.5 Benign/Likely benign 0 -129264 Simple 73566945 A . Benign/Likely benign 2 2 Joubert syndrome;not specified 2017-05-17 -12.0 0.5 Benign/Likely benign 0 -129265 Simple 10781542 G . Benign/Likely benign 2 1 Joubert syndrome;not specified 2016-06-14 . 1.0 . 0 -129266 Simple 10870194 G . Benign/Likely benign 2 1 Joubert syndrome;not specified 2016-06-14 . 1.0 . 0 -129267 Simple 35774078 A . Benign/Likely benign 2 3 Joubert syndrome;not specified 2017-08-08 -13.8 1.3333333333333333 Benign/Likely benign 0 -129268 Simple 10870188 A . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129269 Simple 143552175 A . Benign/Likely benign 2 3 Joubert syndrome;not specified 2017-06-30 -14.1 1.6666666666666667 Benign/Likely benign 0 -129270 Simple 10870182 T . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129272 Simple 33982662 A . Benign/Likely benign 2 1 Joubert syndrome;not specified 2016-06-14 . 1.0 . 0 -129273 Simple 79161998 C . Benign/Likely benign 2 3 Joubert syndrome;not specified 2017-08-08 -14.4 1.0 Benign/Likely benign 0 -129274 Simple 58206296 T . Benign/Likely benign 2 3 Joubert syndrome;not specified 2016-06-18 -14.4 1.3333333333333333 Benign/Likely benign 0 -129275 Simple 36064831 C . Benign/Likely benign 2 4 Joubert syndrome;not specified 2017-08-07 -19.2 1.5 Benign/Likely benign 0 -129276 Simple 34071122 T . Benign/Likely benign 2 2 Joubert syndrome;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -129277 Simple 10870199 C . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129278 Simple 35498378 A . Benign/Likely benign 2 2 Joubert syndrome;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -129279 Simple 41275198 T . Likely benign 2 3 not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant/Recessive 2016-11-14 -9.0 1.0 Benign/Likely benign 1 -129280 Simple 61745228 T . Benign/Likely benign 2 2 Mental retardation, X-linked 1;not specified 2017-08-14 -11.4 1.0 Benign/Likely benign 0 -129283 Simple 587780360 G . Uncertain significance 2 2 not specified;not provided 2015-02-06 -0.44999999999999996 3.5 Uncertain significance 0 -129284 Simple 191886831 T . Benign 2 6 Mental retardation, X-linked 1;not specified;not provided 2017-07-07 -34.2 1.1666666666666667 Benign 0 -129286 Simple 192925278 C . Benign/Likely benign 2 3 not specified;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2017-07-24 -11.7 0.6666666666666666 Benign/Likely benign 0 -129287 Simple 61734789 A . Benign/Likely benign 2 3 not specified;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7;Congenital Muscular Dystrophy, alpha-dystroglycan related 2017-08-04 -14.4 1.0 Benign/Likely benign 0 -129288 Simple 7782939 G . Benign 2 4 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-08-24 -21.0 2.25 Benign/Likely benign 1 -129289 Simple 61746966 C . Benign/Likely benign 2 3 not specified;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7;Congenital Muscular Dystrophy, alpha-dystroglycan related 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -129290 Simple 587780361 C . Uncertain significance 2 2 not specified;not provided 2016-07-06 -0.51 2.5 Uncertain significance 0 -129292 Simple 61733963 A . Benign/Likely benign 2 2 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified 2017-08-09 -12.0 0.5 Benign/Likely benign 0 -129296 Simple 62648071 G . Benign/Likely benign 2 2 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified 2017-08-09 -12.0 0.5 Benign/Likely benign 0 -129305 Simple 116623596 A . Benign/Likely benign 2 3 Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant 2017-07-24 -15.0 0.6666666666666666 Benign/Likely benign 0 -129306 Simple 150830358 T . Benign/Likely benign 2 3 Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant 2017-08-08 -14.4 1.0 Benign/Likely benign 0 -129307 Simple 2919360 C . Benign 2 3 not specified;Nemaline Myopathy, Dominant 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -129308 Simple 2919358 T . Benign 2 2 not specified;Nemaline Myopathy, Dominant 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129309 Simple 2946642 T . Benign 2 3 not specified;Nemaline Myopathy, Dominant 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -129310 Simple 146917406 A . Benign/Likely benign 2 4 Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant 2017-07-25 -21.0 0.75 Benign/Likely benign 0 -129311 Simple 2919359 G . Benign 2 3 not specified;Nemaline Myopathy, Dominant 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -129312 Simple 368781046 G . Benign/Likely benign 2 5 Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant 2017-07-19 -23.1 1.4 Benign/Likely benign 0 -129313 Simple 4766309 A . Benign/Likely benign 2 3 Episodic ataxia;not specified;Myokymia 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -129314 Simple 17221819 A . Benign/Likely benign 2 2 not specified 2016-09-28 -12.0 1.0 Benign/Likely benign 0 -129316 Simple 115466046 T . Benign/Likely benign 2 5 SeSAME syndrome;not specified 2017-08-04 -23.4 1.8 Benign/Likely benign 0 -129317 Simple 1130183 A . Benign/Likely benign 2 3 SeSAME syndrome;not specified 2017-08-14 -15.0 2.3333333333333335 Benign/Likely benign 0 -129318 Simple 3795339 T . Benign/Likely benign 2 2 SeSAME syndrome;not specified 2017-11-09 -9.0 0.0 Benign/Likely benign 0 -129319 Simple 74140280 A . Benign/Likely benign 2 2 Generalized epilepsy and paroxysmal dyskinesia;not specified 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -129321 Simple 78670694 T . Benign/Likely benign 2 3 Generalized epilepsy and paroxysmal dyskinesia;not specified 2017-08-02 -15.0 0.3333333333333333 Benign/Likely benign 0 -129323 Simple 77280228 G . Benign/Likely benign 2 2 Generalized epilepsy and paroxysmal dyskinesia;not specified 2017-08-12 -9.0 0.5 Benign/Likely benign 0 -129325 Simple 78672251 G . Benign/Likely benign 2 2 Generalized epilepsy and paroxysmal dyskinesia;not specified 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -129327 Simple 587780364 . . Uncertain significance 2 2 Generalized epilepsy and paroxysmal dyskinesia;not provided 2017-02-21 -0.51 2.5 Uncertain significance 0 -129328 Simple 1131824 A . Benign/Likely benign 2 2 Generalized epilepsy and paroxysmal dyskinesia;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129329 Simple 75040504 A . Likely benign 2 2 Generalized epilepsy and paroxysmal dyskinesia;not specified 2017-07-20 -5.1 2.0 Likely benign 0 -129330 Simple 35430888 T . Benign 2 4 not specified;Early infantile epileptic encephalopathy 2016-08-28 -19.8 2.75 Benign/Likely benign 1 -129333 Simple 3746366 C . Benign/Likely benign 2 5 not specified;Early infantile epileptic encephalopathy 2017-08-09 -19.8 1.2 Benign/Likely benign 0 -129337 Simple 1801545 C . Benign/Likely benign 2 2 Benign familial neonatal seizures 1;not specified;KCNQ2-Related Disorders 2017-04-26 -12.0 0.5 Benign/Likely benign 0 -129338 Simple 61737409 A . Benign/Likely benign 2 5 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-08-01 -21.6 2.6 Benign/Likely benign 0 -129340 Simple 35647984 T . Benign/Likely benign 2 5 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-08-11 -20.4 2.2 Benign/Likely benign 0 -129341 Simple 139587368 T . Benign/Likely benign 2 4 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-08-01 -20.4 2.25 Benign/Likely benign 0 -129342 Simple 1801471 T . Benign 2 4 Benign familial neonatal seizures 1;not specified;KCNQ2-Related Disorders 2017-04-27 -22.2 1.5 Benign/Likely benign 1 -129344 Simple 147882199 A . Benign 2 5 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-07-28 -25.8 2.2 Benign 0 -129345 Simple 2297385 A . Benign 2 2 not specified;KCNQ2-Related Disorders 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129346 Simple 35413925 A . Benign/Likely benign 2 2 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures 2017-07-08 -9.6 2.5 Benign/Likely benign 0 -129347 Simple 17575754 C . Benign/Likely benign 2 3 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2017-01-23 -18.0 1.0 Benign/Likely benign 0 -129348 Simple 35538317 A . Benign/Likely benign 2 5 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2017-08-08 -22.2 1.4 Benign/Likely benign 0 -129349 Simple 41272389 G . Benign/Likely benign 2 3 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2017-01-23 -18.0 1.0 Benign/Likely benign 0 -129350 Simple 41272387 G . Benign/Likely benign 2 3 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2017-01-23 -18.0 1.0 Benign/Likely benign 0 -129351 Simple 201051863 T . Benign 2 4 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-11 -22.2 1.5 Benign/Likely benign 1 -129353 Simple 17038714 A . Benign/Likely benign 2 1 not specified 2014-09-04 . 3.0 . 0 -129356 Simple 61744696 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-14 -16.8 1.3333333333333333 Benign/Likely benign 0 -129357 Simple 914428 A . Benign/Likely benign 2 1 not specified 2016-01-04 . 2.0 . 0 -129358 Simple 149804567 G . Likely benign 2 5 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-08-08 -13.8 1.6 Benign/Likely benign 1 -129359 Simple 144659358 T . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-31 -12.0 0.5 Benign/Likely benign 0 -129360 Simple 200694691 A . Uncertain significance 2 3 not specified;not provided;Focal epilepsy 2017-05-04 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -129361 Simple 28612938 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-08-01 -14.4 1.0 Benign/Likely benign 0 -129362 Simple 200642629 T . Benign/Likely benign 2 5 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-07-26 -21.6 1.8 Benign/Likely benign 0 -129363 Simple 149416418 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-03 -16.8 1.3333333333333333 Benign/Likely benign 0 -129364 Simple 138421850 A . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-07-21 -19.2 1.5 Benign/Likely benign 0 -129365 Simple 77912754 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-06-27 -12.0 0.5 Benign/Likely benign 0 -129366 Simple 146292575 C . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-07-31 -19.2 1.5 Benign/Likely benign 0 -129367 Simple 117286274 G . Benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-11 -15.600000000000001 2.0 Benign/Likely benign 1 -129368 Simple 61739517 G . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-07 -11.4 1.0 Benign/Likely benign 0 -129370 Simple 3764904 A . Benign/Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129371 Simple 117194263 T . Benign/Likely benign 2 4 Progressive myoclonic epilepsy;Epilepsy, progressive myoclonic 3;not specified 2017-08-10 -18.0 2.0 Benign/Likely benign 0 -129376 Simple 11542889 T . Benign/Likely benign 2 3 Spastic paraplegia 8;not specified;Spastic Paraplegia, Dominant 2017-04-27 -18.0 0.6666666666666666 Benign/Likely benign 0 -129377 Simple 7812319 C . Benign/Likely benign 2 4 Dandy-Walker like malformation with atrioventricular septal defect;Spastic paraplegia 8;not specified;Spastic Paraplegia, Dominant 2017-08-04 -24.0 0.5 Benign 1 -129382 Simple 145018752 T . Benign/Likely benign 2 2 not specified;not provided;Mental retardation, X-linked 98 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -129384 Simple 35663732 C . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-08-08 -19.8 1.2 Benign/Likely benign 0 -129385 Simple 35945835 A . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-08-08 -19.8 1.2 Benign/Likely benign 0 -129386 Simple 61744930 A . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-07-20 -19.8 1.2 Benign/Likely benign 0 -129387 Simple 62637652 A . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-08-07 -19.8 1.2 Benign/Likely benign 0 -129388 Simple 116297894 A . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-07-31 -20.4 1.0 Benign/Likely benign 0 -129389 Simple 73102625 A . Benign/Likely benign 2 5 Hereditary sensory and autonomic neuropathy type II;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2016-06-14 -18.6 1.8 Benign/Likely benign 0 -129390 Simple 35664935 A . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-07-17 -20.4 1.0 Benign/Likely benign 0 -129392 Simple 35139906 A . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-06-26 -20.4 1.0 Benign/Likely benign 0 -129393 Simple 2241683 T . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-07-27 -19.2 1.4 Benign/Likely benign 0 -129394 Simple 1529663 A . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-07-31 -20.4 1.0 Benign/Likely benign 0 -129395 Simple 76974316 T . Benign/Likely benign 2 4 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-07-19 -15.0 0.75 Benign/Likely benign 0 -129396 Simple 1063353 G . Benign/Likely benign 2 4 Hereditary sensory and autonomic neuropathy type II;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -129398 Simple 371737085 A . Benign/Likely benign 2 3 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-07-10 -10.8 1.0 Benign/Likely benign 0 -129399 Simple 12402052 G . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;not specified;Charcot-Marie-Tooth, Type 2 2016-06-14 -22.2 1.75 Benign/Likely benign 0 -129400 Simple 12125492 G . Benign/Likely benign 2 3 Neuroblastoma;Pheochromocytoma;not specified;Charcot-Marie-Tooth, Type 2 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -129401 Simple 11121552 A . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;not specified;Charcot-Marie-Tooth, Type 2 2016-06-14 -22.2 1.75 Benign/Likely benign 0 -129405 Simple 112333674 C . Benign/Likely benign 2 3 Acrocallosal syndrome, Schinzel type;not specified 2017-08-07 -13.8 1.3333333333333333 Benign/Likely benign 0 -129406 Simple 8179065 T . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -129407 Simple 115857753 A . Benign/Likely benign 2 5 Acrocallosal syndrome, Schinzel type;not specified;not provided 2016-12-02 -22.200000000000003 1.6 Benign/Likely benign 0 -129408 Simple 8179066 G . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -129409 Simple 72750755 T . Benign/Likely benign 2 3 Acrocallosal syndrome, Schinzel type;not specified 2017-07-28 -13.8 1.3333333333333333 Benign/Likely benign 0 -129410 Simple 113881220 T . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -129411 Simple 35451920 A . Benign/Likely benign 2 4 Acrocallosal syndrome, Schinzel type;not specified 2017-06-30 -20.4 1.0 Benign/Likely benign 0 -129412 Simple 35837280 A . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129413 Simple 3803531 G . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -129414 Simple 61741227 A . Benign/Likely benign 2 3 Acrocallosal syndrome, Schinzel type;not specified 2017-06-30 -15.0 0.6666666666666666 Benign/Likely benign 0 -129415 Simple 142032413 C . Benign/Likely benign 2 4 Acrocallosal syndrome, Schinzel type;not specified 2017-06-07 -18.6 1.75 Benign/Likely benign 0 -129416 Simple 74251725 A . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-08-17 -12.0 1.0 Benign/Likely benign 0 -129418 Simple 141865394 A . Benign/Likely benign 2 3 Acrocallosal syndrome, Schinzel type;not specified 2017-06-01 -13.8 1.3333333333333333 Benign/Likely benign 0 -129420 Simple 201204758 T . Likely benign 2 2 not specified 2016-04-08 -5.7 1.5 Likely benign 0 -129431 Simple 35927125 G . Benign/Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -129433 Simple 2306220 C . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-08-11 -15.0 0.6666666666666666 Benign/Likely benign 0 -129434 Simple 9492266 C . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-08-10 -15.0 0.6666666666666666 Benign/Likely benign 0 -129438 Simple 35889149 G . Benign/Likely benign 2 2 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -129439 Simple 73775407 A . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -129440 Simple 56920166 G . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -129442 Simple 34367843 T . Benign/Likely benign 2 5 Laminin alpha 2-related dystrophy;not specified;not provided 2017-06-19 -26.4 1.0 Benign 1 -129443 Simple 35313209 C . Benign/Likely benign 2 4 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-08-10 -20.4 0.75 Benign/Likely benign 0 -129444 Simple 34997144 A . Benign/Likely benign 2 4 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-08-02 -21.0 0.75 Benign/Likely benign 0 -129445 Simple 73599293 G . Benign/Likely benign 2 5 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy;not specified;not provided;Congenital Muscular Dystrophy, LAMA2-related 2017-08-10 -26.4 0.8 Benign 1 -129446 Simple 2228599 G . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-08-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -129453 Simple 116422150 A . Benign/Likely benign 2 3 not specified;not provided 2017-02-27 -14.4 1.3333333333333333 Benign/Likely benign 0 -129472 Simple 13286358 T . Benign/Likely benign 2 2 not specified 2015-01-14 -9.0 3.5 Benign/Likely benign 0 -129482 Simple 1805386 G . Benign/Likely benign 2 4 Lig4 syndrome;Severe combined immunodeficiency with sensitivity to ionizing radiation;not specified 2017-04-17 -18.0 0.75 Benign/Likely benign 0 -129490 Simple 2229265 T . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129492 Simple 34355135 T . Benign/Likely benign 2 2 not specified;not provided 2016-11-10 -5.7 1.5 Likely benign 1 -129493 Simple 2229268 G . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129494 Simple 111704488 C . Benign/Likely benign 2 2 Donnai Barrow syndrome;not specified;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129496 Simple 76488092 C . Benign/Likely benign 2 2 Donnai Barrow syndrome;not specified;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129500 Simple 2075252 C . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129501 Simple 4667591 G . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129502 Simple 990626 A . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129504 Simple 16856476 A . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129506 Simple 34291900 T . Benign/Likely benign 2 2 Donnai Barrow syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129507 Simple 830994 A . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129509 Simple 33954745 G . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129510 Simple 2241190 C . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129511 Simple 2229263 C . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129515 Simple 2075249 T . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129516 Simple 831043 C . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129518 Simple 150552608 A . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129519 Simple 831042 C . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129521 Simple 34104660 T . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129522 Simple 76714416 G . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129523 Simple 34915742 G . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129525 Simple 587780385 T . Uncertain significance 2 2 Donnai Barrow syndrome;not provided 2016-06-14 -0.51 2.5 Uncertain significance 0 -129526 Simple 2229267 G . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129528 Simple 2302694 A . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129530 Simple 11886219 C . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129533 Simple 2229266 A . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129534 Simple 1559014 G . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129536 Simple 13397109 C . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129539 Simple 34693334 G . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129540 Simple 17848169 C . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129541 Simple 190037522 T . Uncertain significance 2 2 Donnai Barrow syndrome;not provided 2016-06-14 -0.51 2.5 Uncertain significance 0 -129542 Simple 2228171 T . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -129546 Simple 144829356 A . Benign/Likely benign 2 2 Donnai Barrow syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129549 Simple 4494798 C . Benign/Likely benign 2 2 Leigh syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -129559 Simple 145722885 T . Benign/Likely benign 2 2 not specified 2015-08-21 -6.9 3.0 Likely benign 1 -129572 Simple 373430024 T . Uncertain significance 2 2 not provided;Intellectual Disability, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -129578 Simple 118117962 T . Benign/Likely benign 2 2 Mental retardation, autosomal recessive 15;not specified;Intellectual Disability, Recessive 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -129580 Simple 61744585 T . Benign/Likely benign 2 4 Mental retardation, autosomal recessive 15;not specified;Intellectual Disability, Recessive 2017-07-24 -18.0 2.0 Benign/Likely benign 0 -129584 Simple 35836657 C . Benign/Likely benign 2 2 Deficiency of alpha-mannosidase;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -129590 Simple 61752446 A . Benign 2 4 FG syndrome;not specified;Cardiovascular phenotype 2017-06-03 -20.4 2.25 Benign/Likely benign 1 -129593 Simple 147354926 A . Benign/Likely benign 2 4 FG syndrome;not specified;not provided;Cardiovascular phenotype 2017-07-26 -21.6 1.75 Benign/Likely benign 0 -129608 Simple 11098943 G . Benign/Likely benign 2 4 Ceroid lipofuscinosis neuronal 7;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-08-22 -18.0 2.0 Benign/Likely benign 0 -129609 Simple 3733319 A . Benign/Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -129614 Simple 6010165 A . Benign/Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -129615 Simple 6010164 C . Benign/Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -129616 Simple 11568185 A . Benign/Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -129617 Simple 11568186 A . Benign/Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -129618 Simple 11568187 G . Benign/Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -129619 Simple 34307129 A . Benign/Likely benign 2 8 Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease type 2J;Charcot-Marie-Tooth disease, demyelinating, type 1b;Roussy-Lévy syndrome;Congenital hypomyelinating neuropathy;Charcot-Marie-Tooth disease, type I;not specified;Charcot-Marie-Tooth, Type 1;Charcot-Marie-Tooth, Intermediate 2017-08-04 -31.8 1.0 Benign 1 -129622 Simple 1805362 C . Benign/Likely benign 2 4 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -21.0 2.0 Benign/Likely benign 0 -129623 Simple 535801 T . Benign/Likely benign 2 3 Ataxia-telangiectasia-like disorder 1;not specified 2017-07-10 -18.0 0.6666666666666666 Benign/Likely benign 0 -129624 Simple 1047991 A . Benign/Likely benign 2 1 not specified 2013-09-06 . 4.0 . 0 -129625 Simple 991811 C . Benign/Likely benign 2 2 not specified;Abetalipoproteinemia 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -129630 Simple 2274419 A . Benign/Likely benign 2 3 not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -129632 Simple 56130155 T . Benign/Likely benign 2 2 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -129633 Simple 578430 T . Benign/Likely benign 2 4 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive 2017-08-09 -22.8 1.25 Benign/Likely benign 0 -129634 Simple 35142681 T . Benign/Likely benign 2 3 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive 2017-08-09 -13.2 1.6666666666666667 Benign/Likely benign 0 -129635 Simple 10980531 A . Benign 2 3 not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -129636 Simple 35176182 G . Benign 2 3 not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -129637 Simple 41279051 T . Benign/Likely benign 2 3 not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -129638 Simple 7957619 A . Benign/Likely benign 2 5 Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever;Methylmalonic acidemia;not specified 2016-06-14 -20.4 1.2 Benign/Likely benign 0 -129639 Simple 34368092 A . Benign/Likely benign 2 5 Mevalonic aciduria;Porokeratosis, disseminated superficial actinic 1;Hyperimmunoglobulin D with periodic fever;not specified 2017-08-21 -23.4 1.0 Benign/Likely benign 0 -129640 Simple 2287218 T . Benign/Likely benign 2 3 Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -129641 Simple 825045 T . Benign 2 2 not specified;Distal arthrogryposis 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129642 Simple 3817552 G . Benign 2 2 not specified;Distal arthrogryposis 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129643 Simple 77045393 T . Benign 2 1 not specified 2013-08-15 . 4.0 . 0 -129644 Simple 7139095 C . Benign 2 2 not specified;Distal arthrogryposis 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129645 Simple 764291 G . Benign 2 2 not specified;Distal arthrogryposis 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129646 Simple 61935677 G . Benign/Likely benign 2 1 not specified;Distal arthrogryposis 2016-06-14 . 1.0 . 0 -129647 Simple 2293468 T . Benign 2 2 not specified;Distal arthrogryposis 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129648 Simple 56259391 A . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129649 Simple 876657 T . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -129650 Simple 2285469 C . Benign/Likely benign 2 4 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -15.600000000000001 2.0 Benign/Likely benign 0 -129651 Simple 56163389 C . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129652 Simple 2285472 C . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -129653 Simple 2285474 G . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -129654 Simple 34088014 A . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129655 Simple 61735353 T . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129656 Simple 2285475 G . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -129657 Simple 201626 G . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -129658 Simple 2285477 T . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -129659 Simple 77946261 G . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129660 Simple 35230241 A . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified;not provided 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -129661 Simple 112569418 A . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129662 Simple 58343499 C . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129663 Simple 2285479 A . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -129664 Simple 34393601 T . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129665 Simple 200954595 T . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129666 Simple 16943604 A . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129667 Simple 17817203 G . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129671 Simple 34693726 A . Benign/Likely benign 2 2 Hecht syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129672 Simple 12936716 A . Benign/Likely benign 2 2 Hecht syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129673 Simple 3744553 T . Benign/Likely benign 2 2 Hecht syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129674 Simple 3744552 A . Benign/Likely benign 2 2 Hecht syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129675 Simple 35962914 G . Benign/Likely benign 2 1 not specified 2016-02-22 . 2.0 . 0 -129677 Simple 138992963 A . Benign/Likely benign 2 1 Hecht syndrome;not specified 2016-06-14 . 1.0 . 0 -129678 Simple 8069834 G . Benign/Likely benign 2 2 Hecht syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129679 Simple 33969260 A . Benign/Likely benign 2 2 Hecht syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129680 Simple 8068729 G . Benign/Likely benign 2 2 Hecht syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129683 Simple 34717730 G . Benign/Likely benign 2 7 Spheroid body myopathy;Limb-girdle muscular dystrophy, type 1A;Myotilinopathy;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-07 -31.2 1.1428571428571428 Benign 1 -129684 Simple 116773838 A . Benign/Likely benign 2 6 Spheroid body myopathy;Limb-girdle muscular dystrophy, type 1A;Myotilinopathy;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-07 -27.0 0.6666666666666666 Benign 1 -129695 Simple 1801318 C . Benign/Likely benign 2 2 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129696 Simple 1127566 A . Benign/Likely benign 2 2 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -129706 Simple 149025191 G . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-07-21 -15.0 0.6666666666666666 Benign/Likely benign 0 -129707 Simple 35740585 C . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-07-31 -11.4 1.0 Benign/Likely benign 0 -129710 Simple 35227368 T . Benign/Likely benign 2 5 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-11 -25.2 1.4 Benign 1 -129712 Simple 16830236 C . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-07-25 -12.0 0.5 Benign/Likely benign 0 -129714 Simple 141338915 G . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-02 -19.8 1.25 Benign/Likely benign 0 -129715 Simple 4544436 G . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-07-17 -19.8 1.25 Benign/Likely benign 0 -129717 Simple 145127681 A . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-11 -14.4 1.0 Benign/Likely benign 0 -129719 Simple 11894996 A . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -21.0 0.75 Benign/Likely benign 0 -129720 Simple 35707762 A . Benign 2 4 Nemaline myopathy 2;not specified 2017-07-25 -24.0 0.75 Benign 0 -129721 Simple 2288200 A . Benign/Likely benign 2 5 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-11 -25.2 1.4 Benign 1 -129722 Simple 16830192 C . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-11 -19.8 1.25 Benign/Likely benign 0 -129727 Simple 75118047 C . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -19.8 1.25 Benign/Likely benign 0 -129728 Simple 35625617 T . Benign/Likely benign 2 5 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-07-11 -24.6 1.6 Benign 1 -129729 Simple 61730765 C . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-09 -15.0 0.6666666666666666 Benign/Likely benign 0 -129732 Simple 41270201 A . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-07 -19.2 1.5 Benign/Likely benign 0 -129733 Simple 34368668 A . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;not provided 2017-08-01 -18.0 0.75 Benign/Likely benign 0 -129734 Simple 35808744 T . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -129735 Simple 13031275 C . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -19.2 1.5 Benign/Likely benign 0 -129737 Simple 114959904 A . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-05-02 -9.0 0.0 Benign/Likely benign 0 -129738 Simple 13427102 T . Benign/Likely benign 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129739 Simple 74859201 T . Benign 2 5 Nemaline myopathy 2;not specified 2017-08-02 -27.0 1.8 Benign 0 -129740 Simple 117048449 C . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -19.8 1.25 Benign/Likely benign 0 -129742 Simple 80232472 G . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-09 -21.0 0.5 Benign/Likely benign 0 -129743 Simple 34800215 G . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -19.8 1.25 Benign/Likely benign 0 -129744 Simple 34577613 T . Benign/Likely benign 2 3 not specified;Nemaline Myopathy, Recessive 2016-06-14 -16.2 2.0 Benign/Likely benign 0 -129745 Simple 117271684 G . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -19.8 1.25 Benign/Likely benign 0 -129746 Simple 10170273 T . Benign/Likely benign 2 3 not specified;Nemaline Myopathy, Recessive 2016-06-14 -16.2 2.0 Benign/Likely benign 0 -129747 Simple 141930814 T . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -129750 Simple 78916288 A . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -129751 Simple 77547727 A . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-06-12 -15.0 0.6666666666666666 Benign/Likely benign 0 -129752 Simple 75807392 A . Benign/Likely benign 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129753 Simple 113095802 G . Benign/Likely benign 2 5 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-02 -25.8 1.2 Benign 1 -129754 Simple 140186806 T . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 0 -129755 Simple 78733601 C . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-06-12 -15.0 0.6666666666666666 Benign/Likely benign 0 -129756 Simple 10930723 C . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 0 -129757 Simple 76767949 C . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -19.8 1.25 Benign/Likely benign 0 -129758 Simple 35974308 T . Benign/Likely benign 2 5 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-02 -25.8 1.2 Benign 1 -129759 Simple 61730771 A . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-02 -19.8 1.25 Benign/Likely benign 0 -129760 Simple 61730772 G . Benign/Likely benign 2 5 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -25.8 1.2 Benign 1 -129761 Simple 6713162 G . Benign/Likely benign 2 3 not specified;Nemaline Myopathy, Recessive 2016-06-14 -16.2 2.0 Benign/Likely benign 0 -129762 Simple 6717213 T . Benign/Likely benign 2 3 not specified;Nemaline Myopathy, Recessive 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -129763 Simple 8192556 T . Benign/Likely benign 2 3 not specified;Maturity-onset diabetes of the young;Monogenic diabetes 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -129764 Simple 41277236 T . Benign 2 2 not specified 2016-03-29 -10.2 2.5 Benign/Likely benign 1 -129766 Simple 115931931 G . Benign/Likely benign 2 3 Lafora disease;not specified 2017-04-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -129767 Simple 10949483 A . Benign 2 4 Lafora disease;not specified 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -129769 Simple 149609550 A . Benign/Likely benign 2 3 Nance-Horan syndrome;not specified 2016-06-13 -11.4 1.6666666666666667 Benign/Likely benign 0 -129773 Simple 149244552 T . Benign 2 3 Nance-Horan syndrome;not specified 2017-07-02 -15.600000000000001 2.0 Benign/Likely benign 1 -129776 Simple 3747295 C . Benign/Likely benign 2 1 not specified 2014-01-31 . 4.0 . 0 -129783 Simple 61755037 A . Benign/Likely benign 2 2 not specified;not provided 2017-02-27 -8.4 1.5 Benign/Likely benign 0 -129804 Simple 11263683 G . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -129811 Simple 12970899 G . Benign/Likely benign 2 3 Niemann-Pick disease, type C;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -129813 Simple 33958626 T . Benign/Likely benign 2 6 Joubert syndrome;Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-04-07 -24.6 1.5 Benign 1 -129814 Simple 190983114 A . Benign/Likely benign 2 6 Joubert syndrome;Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-04-27 -24.6 1.5 Benign 1 -129815 Simple 73954628 A . Benign/Likely benign 2 6 Joubert syndrome;Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-08-08 -25.8 1.1666666666666667 Benign 1 -129817 Simple 367919055 T . Uncertain significance 2 3 Pitt-Hopkins-like syndrome 2;not specified;not provided 2017-07-19 -0.75 2.3333333333333335 Uncertain significance 0 -129822 Simple 80094872 T . Benign/Likely benign 2 3 Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -129823 Simple 74714098 T . Benign/Likely benign 2 3 Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome 2017-08-04 -12.6 2.0 Benign/Likely benign 0 -129825 Simple 61658382 T . Benign/Likely benign 2 4 Pitt-Hopkins-like syndrome 2;not specified;not provided;Pitt-Hopkins-like syndrome 2017-08-11 -15.6 1.5 Benign/Likely benign 0 -129827 Simple 2303298 A . Benign/Likely benign 2 3 Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome 2017-08-14 -13.2 1.6666666666666667 Benign/Likely benign 0 -129850 Simple 61752970 T . Benign/Likely benign 2 4 Lowe syndrome;not specified;not provided 2017-07-28 -17.4 1.0 Benign/Likely benign 0 -129851 Simple 138260625 A . Benign 2 2 not specified 2016-04-18 -11.4 1.5 Benign/Likely benign 1 -129857 Simple 3087483 T . Benign/Likely benign 2 2 not specified;Meier-Gorlin syndrome 2016-06-14 -7.2 2.5 Likely benign 1 -129863 Simple 3087477 T . Benign/Likely benign 2 2 not specified;Meier-Gorlin syndrome 2016-06-14 -7.2 2.5 Likely benign 1 -129865 Simple 138076975 G . Uncertain significance 2 2 not provided;Meier-Gorlin syndrome 2016-06-14 -0.51 2.5 Uncertain significance 0 -129866 Simple 34343511 C . Benign/Likely benign 2 2 not specified;Meier-Gorlin syndrome 2016-06-14 -6.6 3.0 Likely benign 1 -129867 Simple 1800328 G . Benign/Likely benign 2 3 Ornithine carbamoyltransferase deficiency;not specified 2017-08-15 -14.4 1.0 Benign/Likely benign 0 -129874 Simple 587780414 T . Uncertain significance 2 2 not provided;Maturity-onset diabetes of the young 2016-06-14 -0.51 2.5 Uncertain significance 0 -129875 Simple 2233580 T . Benign/Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -129876 Simple 77039439 A . Benign/Likely benign 2 2 not specified;Maturity-onset diabetes of the young 2016-06-14 -7.2 2.5 Likely benign 1 -129877 Simple 327517 C . Benign/Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -129878 Simple 712701 G . Benign 2 2 not specified;Maturity-onset diabetes of the young 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129879 Simple 45580638 T . Benign/Likely benign 2 2 Pyruvate carboxylase deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -129881 Simple 199644078 A . Likely benign 2 3 not specified;not provided;Monogenic diabetes 2017-02-27 -8.7 1.3333333333333333 Benign/Likely benign 1 -129882 Simple 35996821 C . Benign/Likely benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -129883 Simple 1143016 A . Benign/Likely benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -129884 Simple 2494598 C . Benign/Likely benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -129891 Simple 1747682 A . Benign/Likely benign 2 2 Phytanic acid storage disease;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 0 -129897 Simple 587780417 A . Uncertain significance 2 2 not specified;not provided 2015-02-02 -0.44999999999999996 3.5 Uncertain significance 0 -129898 Simple 45496299 T . Benign/Likely benign 2 4 Early infantile epileptic encephalopathy 12;not specified;not provided 2017-08-11 -21.0 0.25 Benign/Likely benign 0 -129899 Simple 16994453 T . Benign/Likely benign 2 1 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 . 1.0 . 0 -129901 Simple 2076689 G . Benign/Likely benign 2 1 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 . 1.0 . 0 -129903 Simple 3761170 A . Benign/Likely benign 2 1 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 . 1.0 . 0 -129905 Simple 8118206 A . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -129907 Simple 138442805 T . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-07-31 -8.1 2.0 Likely benign 1 -129908 Simple 2076413 A . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -129910 Simple 2235613 C . Benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129911 Simple 61755436 G . Benign/Likely benign 2 5 Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2017-08-07 -25.2 1.2 Benign 1 -129912 Simple 2327089 T . Benign 2 3 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -129913 Simple 41275588 C . Benign/Likely benign 2 4 Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2017-08-07 -19.2 1.25 Benign/Likely benign 0 -129914 Simple 2294597 T . Benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -129915 Simple 150770296 C . Benign 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-05-24 -11.4 1.0 Benign/Likely benign 1 -129916 Simple 6056003 G . Benign/Likely benign 2 3 Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2017-08-07 -13.2 1.6666666666666667 Benign/Likely benign 0 -129917 Simple 6086350 C . Benign/Likely benign 2 4 Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2017-08-07 -19.2 1.25 Benign/Likely benign 0 -129918 Simple 34132016 T . Benign/Likely benign 2 5 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -26.4 0.8 Benign 1 -129919 Simple 35613096 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -12.0 0.5 Benign/Likely benign 0 -129920 Simple 35775257 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -16.2 1.6666666666666667 Benign/Likely benign 0 -129922 Simple 35261863 G . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-28 -16.8 1.3333333333333333 Benign/Likely benign 0 -129923 Simple 28455570 A . Benign/Likely benign 2 3 not specified 2016-02-17 -15.0 2.6666666666666665 Benign/Likely benign 0 -129924 Simple 35134741 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -129925 Simple 17062686 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-28 -16.2 1.6666666666666667 Benign/Likely benign 0 -129926 Simple 62642465 G . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -17.4 1.0 Benign/Likely benign 0 -129927 Simple 75833626 A . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -21.6 1.75 Benign/Likely benign 0 -129928 Simple 11783799 G . Benign/Likely benign 2 2 not specified 2015-01-13 -9.6 3.0 Benign/Likely benign 0 -129929 Simple 73715559 T . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -129931 Simple 113513807 A . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-28 -22.2 1.5 Benign/Likely benign 0 -129932 Simple 201820569 T . Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-05 -6.0 0.5 Likely benign 0 -129933 Simple 115081018 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -12.0 0.5 Benign/Likely benign 0 -129934 Simple 11136336 A . Benign/Likely benign 2 1 not specified 2015-01-13 . 3.0 . 0 -129935 Simple 3135103 T . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -129936 Simple 185978075 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -17.4 1.0 Benign/Likely benign 0 -129937 Simple 116612406 T . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -10.8 1.5 Benign/Likely benign 0 -129938 Simple 11780911 A . Benign/Likely benign 2 1 not specified 2015-01-13 . 3.0 . 0 -129939 Simple 58836306 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-24 -17.4 1.0 Benign/Likely benign 0 -129940 Simple 11990994 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -16.8 1.3333333333333333 Benign/Likely benign 0 -129941 Simple 78012434 T . Benign/Likely benign 2 1 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 . 0.0 . 0 -129942 Simple 145050858 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -16.8 1.3333333333333333 Benign/Likely benign 0 -129943 Simple 73377210 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-17 -17.4 1.0 Benign/Likely benign 0 -129944 Simple 112173070 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -16.2 1.6666666666666667 Benign/Likely benign 0 -129945 Simple 367688739 T . Likely benign 2 2 not specified 2016-09-23 -5.1 2.5 Likely benign 0 -129947 Simple 55895668 C . Benign/Likely benign 2 1 not specified 2015-01-13 . 3.0 . 0 -129948 Simple 111851716 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-17 -17.4 1.0 Benign/Likely benign 0 -129949 Simple 6993938 G . Benign/Likely benign 2 2 not specified 2016-01-05 -10.2 2.5 Benign/Likely benign 0 -129950 Simple 76426116 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-09-12 -14.4 0.6666666666666666 Benign/Likely benign 0 -129951 Simple 62641755 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-01 -12.0 0.5 Benign/Likely benign 0 -129952 Simple 80143277 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-17 -17.4 1.0 Benign/Likely benign 0 -129953 Simple 34490562 T . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-05 -9.0 0.5 Benign/Likely benign 0 -129954 Simple 117306121 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -16.8 1.3333333333333333 Benign/Likely benign 0 -129955 Simple 11988293 A . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -22.2 1.5 Benign/Likely benign 0 -129956 Simple 28526657 T . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -19.5 1.5 Benign/Likely benign 0 -129957 Simple 35139934 A . Benign/Likely benign 2 2 not specified 2015-01-13 -9.6 3.0 Benign/Likely benign 0 -129958 Simple 35723243 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-07 -11.4 1.0 Benign/Likely benign 0 -129959 Simple 34534853 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -16.8 1.3333333333333333 Benign/Likely benign 0 -129960 Simple 58308209 C . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -16.8 1.3333333333333333 Benign/Likely benign 0 -129961 Simple 61529674 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-25 -17.4 1.0 Benign/Likely benign 0 -129962 Simple 60091617 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-17 -11.4 1.0 Benign/Likely benign 0 -129963 Simple 138924815 T . Benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-31 -21.0 2.0 Benign/Likely benign 1 -129969 Simple 8179071 A . Benign 2 2 not specified;Monogenic diabetes 2016-01-29 -9.600000000000001 3.0 Benign/Likely benign 1 -129975 Simple 2233697 G . Benign 2 2 Spastic paraplegia 2;not specified 2017-05-01 -10.2 2.0 Benign/Likely benign 1 -129977 Simple 17854645 C . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129978 Simple 8107538 A . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129979 Simple 591040 T . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129980 Simple 11079804 T . Benign/Likely benign 2 1 Pyridoxal 5'-phosphate-dependent epilepsy;not specified 2016-06-14 . 1.0 . 0 -129981 Simple 17679445 A . Benign/Likely benign 2 2 Pyridoxal 5'-phosphate-dependent epilepsy;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -129982 Simple 35974730 G . Benign/Likely benign 2 3 Pyridoxal 5'-phosphate-dependent epilepsy;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -129983 Simple 4378657 A . Benign/Likely benign 2 1 Pyridoxal 5'-phosphate-dependent epilepsy;not specified 2016-06-14 . 1.0 . 0 -129989 Simple 28567406 C . Benign/Likely benign 2 3 Progressive sclerosing poliodystrophy;not specified 2017-08-01 -15.0 2.3333333333333335 Benign/Likely benign 0 -129990 Simple 2307429 T . Benign/Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-08-07 -9.6 2.5 Benign/Likely benign 0 -129991 Simple 41564016 A . Benign/Likely benign 2 3 Progressive sclerosing poliodystrophy;not specified;POLG-Related Spectrum Disorders 2017-07-28 -12.0 2.3333333333333335 Benign/Likely benign 0 -129992 Simple 144439703 A . Benign/Likely benign 2 5 Progressive sclerosing poliodystrophy;not specified;not provided 2017-07-09 -20.4 2.2 Benign/Likely benign 0 -129993 Simple 2307431 A . Benign/Likely benign 2 5 Progressive sclerosing poliodystrophy;Fanconi anemia;not specified;POLG-Related Spectrum Disorders 2017-08-08 -21.0 1.6 Benign/Likely benign 0 -129994 Simple 150233690 G . Uncertain significance 2 5 Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4B, MNGIE type;not specified;not provided 2017-09-07 -1.44 0.6 Uncertain significance 0 -129996 Simple 200309191 T . Benign/Likely benign 2 2 not specified 2014-01-17 -6.300000000000001 4.0 Likely benign 1 -129999 Simple 61756401 T . Benign/Likely benign 2 5 Progressive sclerosing poliodystrophy;not specified;not provided 2017-06-11 -21.6 1.6 Benign/Likely benign 0 -130004 Simple 41292143 T . Benign/Likely benign 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified 2017-07-31 -10.8 1.5 Benign/Likely benign 0 -130006 Simple 62620174 G . Benign/Likely benign 2 5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-26 -24.6 1.4 Benign 1 -130007 Simple 62636653 T . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-08-02 -16.8 1.0 Benign/Likely benign 0 -130008 Simple 34954751 A . Benign 2 4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-08-08 -19.8 2.5 Benign/Likely benign 1 -130010 Simple 148180760 A . Benign 2 2 not specified 2016-03-15 -10.2 2.5 Benign/Likely benign 1 -130011 Simple 12115566 T . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -13.2 1.6666666666666667 Benign/Likely benign 0 -130012 Simple 144051476 A . Benign/Likely benign 2 2 not specified 2015-12-02 -7.5 2.5 Likely benign 1 -130014 Simple 3209079 A . Benign 2 4 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-08-11 -20.4 2.0 Benign/Likely benign 1 -130016 Simple 8177536 T . Benign/Likely benign 2 4 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -18.0 2.0 Benign/Likely benign 0 -130017 Simple 587780423 C . Likely pathogenic 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not provided 2017-06-15 5.1 2.0 Likely pathogenic 0 -130021 Simple 117284255 T . Benign/Likely benign 2 7 Ceroid lipofuscinosis neuronal 1;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-08-22 -32.1 2.0 Benign 1 -130022 Simple 1800205 G . Benign/Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -130023 Simple 72937434 G . Benign/Likely benign 2 3 Ceroid lipofuscinosis neuronal 1;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-07-03 -12.0 2.3333333333333335 Benign/Likely benign 0 -130024 Simple 3747563 G . Benign/Likely benign 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -130026 Simple 3827522 A . Benign/Likely benign 2 4 Progressive myoclonus epilepsy with ataxia;not specified 2017-08-22 -16.8 2.5 Benign/Likely benign 0 -130027 Simple 79087668 T . Benign/Likely benign 2 4 Progressive myoclonus epilepsy with ataxia;not specified 2017-08-22 -17.4 2.25 Benign/Likely benign 0 -130028 Simple 34837068 G . Benign/Likely benign 2 4 Progressive myoclonus epilepsy with ataxia;not specified 2017-08-01 -18.0 2.0 Benign/Likely benign 0 -130029 Simple 74081707 A . Benign/Likely benign 2 3 Progressive myoclonus epilepsy with ataxia;not specified 2017-08-12 -12.6 2.0 Benign/Likely benign 0 -130030 Simple 34778200 T . Benign/Likely benign 2 3 Progressive myoclonus epilepsy with ataxia;not specified 2017-07-28 -12.6 2.0 Benign/Likely benign 0 -130032 Simple 116353694 T . Benign/Likely benign 2 2 Progressive myoclonic epilepsy;Epilepsy, progressive myoclonic 5;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -130034 Simple 17720698 T . Benign/Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -130036 Simple 3745406 C . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-07-12 -12.0 0.5 Benign/Likely benign 0 -130037 Simple 2547362 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -130038 Simple 79182085 G . Benign/Likely benign 2 4 Dystonia 10;not specified;not provided 2017-08-01 -21.0 2.0 Benign/Likely benign 0 -130042 Simple 13119545 G . Benign 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130048 Simple 268671 G . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-07-12 -12.0 0.5 Benign/Likely benign 0 -130049 Simple 268672 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, demyelinating, type 4f;not specified;Charcot-Marie-Tooth, Type 4 2017-04-25 -12.0 0.5 Benign/Likely benign 0 -130050 Simple 268673 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, demyelinating, type 4f;not specified;Charcot-Marie-Tooth, Type 4 2017-04-25 -12.0 0.5 Benign/Likely benign 0 -130051 Simple 744389 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, demyelinating, type 4f;not specified;Charcot-Marie-Tooth, Type 4 2017-04-25 -13.8 1.3333333333333333 Benign/Likely benign 0 -130052 Simple 3745202 C . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, demyelinating, type 4f;not specified;Charcot-Marie-Tooth, Type 4 2017-04-26 -13.8 1.3333333333333333 Benign/Likely benign 0 -130053 Simple 268674 T . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-07-12 -12.0 0.5 Benign/Likely benign 0 -130054 Simple 535090775 C . Uncertain significance 2 2 not provided;Monogenic diabetes 2015-10-27 -0.48 3.0 Uncertain significance 0 -130058 Simple 146846414 C . Likely benign 2 2 not specified 2016-07-28 -5.1 2.5 Likely benign 0 -130059 Simple 11015859 A . Benign/Likely benign 2 2 not specified;Warburg micro syndrome 2016-06-14 -7.8 2.0 Likely benign 1 -130064 Simple 10445686 G . Benign/Likely benign 2 1 not specified;Warburg micro syndrome 2016-06-14 . 1.0 . 0 -130065 Simple 7595725 A . Benign/Likely benign 2 2 not specified;Warburg micro syndrome 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -130066 Simple 587780426 A . Uncertain significance 2 2 Warburg micro syndrome;not provided 2016-06-14 -0.51 2.5 Uncertain significance 0 -130067 Simple 17261772 C . Benign/Likely benign 2 1 not specified;Warburg micro syndrome 2016-06-14 . 1.0 . 0 -130070 Simple 73959261 G . Benign/Likely benign 2 2 not specified 2016-12-20 -12.0 1.0 Benign/Likely benign 0 -130071 Simple 76927619 T . Benign 2 2 not specified 2016-08-16 -11.4 1.5 Benign/Likely benign 1 -130072 Simple 116775947 G . Benign 2 2 not specified 2016-09-01 -11.4 1.5 Benign/Likely benign 1 -130075 Simple 111345353 T . Benign/Likely benign 2 2 not specified 2017-08-11 -8.4 1.0 Benign/Likely benign 0 -130077 Simple 2577126 C . Benign/Likely benign 2 4 Martsolf syndrome;Warburg micro syndrome 2;not specified;Warburg micro syndrome 2017-06-23 -16.8 1.25 Benign/Likely benign 0 -130078 Simple 12045447 C . Benign/Likely benign 2 4 Martsolf syndrome;Warburg micro syndrome 2;not specified;Warburg micro syndrome 2017-07-26 -16.8 1.25 Benign/Likely benign 0 -130079 Simple 2289189 G . Benign/Likely benign 2 3 Martsolf syndrome;not specified;Warburg micro syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -130080 Simple 11547779 T . Benign/Likely benign 2 3 Martsolf syndrome;not specified;Warburg micro syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -130083 Simple 138332224 T . Likely benign 2 2 not specified;not provided 2015-11-24 -4.800000000000001 3.0 Likely benign 0 -130086 Simple 587780428 GCAGCA . Benign/Likely benign 2 4 not specified 2015-12-30 -18.3 2.25 Benign/Likely benign 0 -130087 Simple 61746214 G . Benign 2 2 not specified 2015-06-15 -10.2 2.5 Benign/Likely benign 1 -130088 Simple 587780431 - . Benign/Likely benign 2 3 not specified 2015-10-30 -12.0 3.0 Benign/Likely benign 0 -130089 Simple 7126210 G . Benign/Likely benign 2 3 Pena-Shokeir syndrome type I;not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130090 Simple 34312154 A . Benign/Likely benign 2 4 Pena-Shokeir syndrome type I;not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -17.4 1.25 Benign/Likely benign 0 -130091 Simple 7111873 G . Benign/Likely benign 2 3 Pena-Shokeir syndrome type I;not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130092 Simple 45603036 T . Benign/Likely benign 2 3 Pena-Shokeir syndrome type I;not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -130096 Simple 75794097 A . Benign/Likely benign 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -130097 Simple 7748563 C . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -130098 Simple 35862137 T . Benign/Likely benign 2 4 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -15.600000000000001 3.25 Benign/Likely benign 0 -130100 Simple 3757370 C . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -130102 Simple 34678569 C . Likely benign 2 3 Microcephaly with mental retardation and digital anomalies;Seckel syndrome;not specified;not provided 2016-10-11 -9.0 1.0 Benign/Likely benign 1 -130103 Simple 139743319 G . Uncertain significance 2 3 Microcephaly with mental retardation and digital anomalies;Seckel syndrome;not provided 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -130105 Simple 111445733 A . Benign 2 2 not specified 2016-08-05 -10.2 2.5 Benign/Likely benign 1 -130108 Simple 2276625 T . Benign/Likely benign 2 3 Spastic paraplegia 31, autosomal dominant;not specified;Spastic Paraplegia, Dominant 2017-04-15 -16.2 1.6666666666666667 Benign/Likely benign 0 -130114 Simple 73712207 T . Benign/Likely benign 2 3 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-04-18 -11.4 1.0 Benign/Likely benign 0 -130116 Simple 115734214 G . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-14 -17.4 2.25 Benign/Likely benign 0 -130118 Simple 3025962 C . Benign/Likely benign 2 4 Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-07-21 -20.4 1.0 Benign/Likely benign 0 -130119 Simple 362691 C . Benign/Likely benign 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -130121 Simple 79471015 C . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-09 -20.4 1.0 Benign/Likely benign 0 -130122 Simple 362801 C . Benign/Likely benign 2 4 Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-07-11 -18.6 1.75 Benign/Likely benign 0 -130124 Simple 147657490 T . Uncertain significance 2 2 Lissencephaly 2;not provided;Epilepsy, familial temporal lobe, 7 2017-07-19 -0.51 2.0 Uncertain significance 0 -130127 Simple 79499902 T . Benign/Likely benign 2 6 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-07-26 -28.2 1.3333333333333333 Benign 1 -130128 Simple 6967725 C . Benign/Likely benign 2 3 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-07 -13.8 1.3333333333333333 Benign/Likely benign 0 -130131 Simple 77664442 C . Benign/Likely benign 2 3 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-07 -13.8 1.3333333333333333 Benign/Likely benign 0 -130134 Simple 362758 G . Benign/Likely benign 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-06-11 -9.0 0.5 Benign/Likely benign 0 -130135 Simple 201422815 G . Uncertain significance 2 3 Epilepsy, lateral temporal lobe, autosomal dominant;Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7 2017-05-23 -0.75 2.3333333333333335 Uncertain significance 0 -130138 Simple 362747 A . Benign/Likely benign 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-06-11 -9.0 0.5 Benign/Likely benign 0 -130139 Simple 79377093 T . Benign/Likely benign 2 3 not specified;Lissencephaly, Recessive 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -130141 Simple 2075038 A . Benign/Likely benign 2 3 not specified;Lissencephaly, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -130142 Simple 56345626 G . Benign/Likely benign 2 1 not specified;Lissencephaly, Recessive 2016-06-14 . 1.0 . 0 -130143 Simple 115640958 T . Benign/Likely benign 2 3 Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-07-08 -14.4 1.0 Benign/Likely benign 0 -130145 Simple 78218774 A . Benign/Likely benign 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -130146 Simple 73714410 T . Benign/Likely benign 2 4 Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-01 -17.4 0.75 Benign/Likely benign 0 -130147 Simple 73714404 A . Benign/Likely benign 2 3 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -130160 Simple 11553876 T . Benign/Likely benign 2 1 Kohlschutter's syndrome;not specified 2016-06-14 . 1.0 . 0 -130168 Simple 117502718 C . Benign/Likely benign 2 2 not specified 2016-08-01 -8.7 1.5 Benign/Likely benign 0 -130169 Simple 117843366 A . Benign/Likely benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 0 -130179 Simple 3911730 C . Benign/Likely benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 0 -130183 Simple 182595458 G . Benign/Likely benign 2 2 not specified 2016-03-25 -10.8 2.0 Benign/Likely benign 0 -130188 Simple 4891392 G . Benign/Likely benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 0 -130190 Simple 145976466 A . Benign/Likely benign 2 3 not specified;not provided 2016-09-20 -11.4 1.3333333333333333 Benign/Likely benign 0 -130191 Simple 2304378 C . Benign/Likely benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 0 -130193 Simple 12956068 G . Likely benign 2 2 not specified 2015-08-04 -5.4 2.0 Likely benign 0 -130194 Simple 34989098 T . Likely benign 2 3 not specified;not provided 2017-06-30 -8.4 1.3333333333333333 Benign/Likely benign 1 -130199 Simple 17078605 G . Benign/Likely benign 2 1 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 . 1.0 . 0 -130200 Simple 2737701 T . Benign/Likely benign 2 1 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 . 1.0 . 0 -130201 Simple 2737699 G . Benign/Likely benign 2 1 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 . 1.0 . 0 -130202 Simple 1536365 C . Benign/Likely benign 2 1 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 . 1.0 . 0 -130203 Simple 4143768 G . Benign/Likely benign 2 1 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 . 1.0 . 0 -130204 Simple 2031640 T . Benign/Likely benign 2 1 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 . 1.0 . 0 -130205 Simple 9552929 G . Benign/Likely benign 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -130206 Simple 2737700 G . Benign/Likely benign 2 1 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 . 1.0 . 0 -130210 Simple 16969930 C . Benign/Likely benign 2 6 Cardiac conduction defect, nonspecific;Brugada syndrome 5;Generalized epilepsy with febrile seizures plus;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-14 -25.8 1.1666666666666667 Benign 1 -130216 Simple 2121371 C . Benign 2 3 Benign familial neonatal-infantile seizures;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -130217 Simple 141815642 C . Benign/Likely benign 2 5 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-08 -19.8 2.2 Benign/Likely benign 0 -130218 Simple 114315466 T . Benign/Likely benign 2 5 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-06-08 -19.8 2.2 Benign/Likely benign 0 -130219 Simple 2228980 G . Benign/Likely benign 2 7 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;not provided;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-03 -28.8 1.8571428571428572 Benign 1 -130221 Simple 2304015 A . Benign/Likely benign 2 5 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-21 -27.0 1.8 Benign 1 -130223 Simple 2060198 A . Benign 2 4 Benign familial neonatal-infantile seizures;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -130224 Simple 17183814 A . Benign/Likely benign 2 2 Benign familial neonatal-infantile seizures;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -130225 Simple 75057869 A . Benign/Likely benign 2 5 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-06-08 -21.0 1.8 Benign/Likely benign 0 -130226 Simple 73025979 T . Benign/Likely benign 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2017-08-10 -9.6 2.5 Benign/Likely benign 0 -130227 Simple 16947296 G . Benign/Likely benign 2 9 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-02 -53.4 0.8888888888888888 Benign 1 -130228 Simple 6504191 C . Benign 2 9 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-04-14 -50.4 1.5555555555555556 Benign 0 -130229 Simple 76894284 A . Benign/Likely benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-02 -32.4 0.875 Benign 1 -130230 Simple 73992419 A . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-07 -42.0 0.8571428571428571 Benign 1 -130231 Simple 115695396 T . Benign/Likely benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-09 -48.0 0.75 Benign 1 -130232 Simple 142270113 T . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-07-10 -24.0 0.8571428571428571 Benign 1 -130234 Simple 41280108 A . Benign/Likely benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-07 -32.4 0.875 Benign 1 -130235 Simple 72851170 A . Benign/Likely benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-07 -31.2 1.25 Benign 1 -130236 Simple 2058194 C . Benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-04-14 -45.0 1.5 Benign 0 -130237 Simple 114059193 A . Benign/Likely benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-09 -45.0 1.5 Benign 1 -130238 Simple 59081944 A . Benign/Likely benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-09 -31.2 1.25 Benign 1 -130239 Simple 2227907 A . Benign 2 9 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-09 -52.2 1.1111111111111112 Benign 0 -130240 Simple 2227906 C . Benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-04-14 -46.2 1.25 Benign 0 -130241 Simple 7218917 A . Benign 2 9 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-07 -51.6 1.2222222222222223 Benign 0 -130242 Simple 35242963 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-27 -18.0 2.0 Benign/Likely benign 0 -130244 Simple 117217073 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-10 -13.2 1.6666666666666667 Benign/Likely benign 0 -130245 Simple 587780453 G . Uncertain significance 2 2 not provided;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -0.51 2.5 Uncertain significance 0 -130246 Simple 115623439 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-01 -13.2 1.6666666666666667 Benign/Likely benign 0 -130247 Simple 303815 C . Benign/Likely benign 2 1 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 . 1.0 . 0 -130250 Simple 12301486 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -130251 Simple 60637 A . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -130253 Simple 4761829 T . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -130254 Simple 13414203 G . Benign/Likely benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -46.8 1.25 Benign 1 -130255 Simple 58465962 A . Benign/Likely benign 2 9 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-08-04 -53.4 1.0 Benign 1 -130256 Simple 13402180 C . Benign/Likely benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -46.8 1.25 Benign 1 -130257 Simple 6747673 T . Benign/Likely benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -46.8 1.25 Benign 1 -130258 Simple 58022607 T . Benign/Likely benign 2 9 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-08-04 -52.8 1.1111111111111112 Benign 1 -130259 Simple 6432901 T . Benign/Likely benign 2 7 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -42.0 1.0 Benign 1 -130261 Simple 111674454 A . Benign/Likely benign 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-07-19 -8.1 2.0 Likely benign 1 -130262 Simple 74401238 T . Benign/Likely benign 2 9 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-08-10 -32.4 1.0 Benign 1 -130264 Simple 77144869 T . Benign/Likely benign 2 9 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-08-11 -53.4 1.0 Benign 1 -130266 Simple 75230218 C . Benign/Likely benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -46.8 1.25 Benign 1 -130267 Simple 76550960 G . Benign/Likely benign 2 8 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-08-01 -48.0 0.875 Benign 1 -130269 Simple 9646771 C . Benign/Likely benign 2 7 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -42.0 1.0 Benign 1 -130270 Simple 149207258 A . Benign/Likely benign 2 7 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -42.0 1.0 Benign 1 -130271 Simple 200470541 A . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not provided 2016-11-19 -0.51 2.5 Uncertain significance 0 -130272 Simple 199550149 G . Benign/Likely benign 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-07-16 -8.4 1.0 Benign/Likely benign 0 -130273 Simple 1041949 G . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -130274 Simple 35277230 T . Benign/Likely benign 2 6 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -25.2 1.3333333333333333 Benign 1 -130275 Simple 199790689 A . Benign/Likely benign 2 5 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified 2017-08-11 -20.4 1.0 Benign/Likely benign 0 -130276 Simple 1139449 A . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -130277 Simple 13070 G . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -130278 Simple 6961 A . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -130279 Simple 6962 A . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -130280 Simple 1139424 G . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -130281 Simple 6555055 C . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -130282 Simple 2115272 C . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -130283 Simple 1126417 C . Benign/Likely benign 2 5 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -19.8 1.4 Benign/Likely benign 0 -130287 Simple 17408685 C . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -130288 Simple 2302566 G . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -130290 Simple 2302564 C . Benign/Likely benign 2 2 Pontoneocerebellar hypoplasia;not specified 2016-08-02 -9.0 1.0 Benign/Likely benign 0 -130291 Simple 115070660 G . Benign/Likely benign 2 1 Nager syndrome;not specified 2016-06-14 . 1.0 . 0 -130293 Simple 1801190 T . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy, type 2D;not specified 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -130294 Simple 1801191 T . Benign/Likely benign 2 7 Limb-girdle muscular dystrophy, type 2D;not specified 2017-08-09 -33.6 2.0 Benign 1 -130295 Simple 35628352 T . Benign/Likely benign 2 2 Severe autosomal recessive muscular dystrophy of childhood - North African type;not specified 2017-08-09 -11.4 1.0 Benign/Likely benign 0 -130296 Simple 1432793 G . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2016-06-14 -6.0 1.0 Likely benign 1 -130297 Simple 6875902 A . Benign/Likely benign 2 3 not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -130298 Simple 1432794 C . Benign/Likely benign 2 4 not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2017-07-12 -22.8 1.25 Benign/Likely benign 0 -130299 Simple 6871030 G . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2016-06-14 -6.0 1.0 Likely benign 1 -130300 Simple 17722293 T . Benign/Likely benign 2 3 not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -130315 Simple 1049434 T . Benign/Likely benign 2 2 not specified;Hyperinsulinism, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -130316 Simple 472294 T . Benign/Likely benign 2 4 Salla disease;not specified 2016-06-14 -15.600000000000001 2.0 Benign/Likely benign 0 -130317 Simple 2072757 A . Benign 2 4 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness;not specified;Thiamine-responsive megaloblastic anemia 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -130318 Simple 3737682 G . Benign/Likely benign 2 4 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness;not specified;Thiamine-responsive megaloblastic anemia 2016-06-14 -17.4 1.25 Benign/Likely benign 0 -130319 Simple 61049753 T . Benign/Likely benign 2 3 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness;not specified;Thiamine-responsive megaloblastic anemia 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -130320 Simple 34507036 G . Benign/Likely benign 2 3 Basal ganglia disease, biotin-responsive;not specified;Thiamine Metabolism Dysfunction Syndrome 2017-08-11 -16.2 1.6666666666666667 Benign/Likely benign 0 -130321 Simple 142837989 T . Benign/Likely benign 2 4 Basal ganglia disease, biotin-responsive;not specified;Thiamine Metabolism Dysfunction Syndrome 2017-07-27 -18.0 2.0 Benign/Likely benign 0 -130322 Simple 34080459 A . Benign/Likely benign 2 3 Basal ganglia disease, biotin-responsive;not specified;Thiamine Metabolism Dysfunction Syndrome 2017-08-03 -13.2 1.6666666666666667 Benign/Likely benign 0 -130323 Simple 76517176 A . Benign/Likely benign 2 3 Basal ganglia disease, biotin-responsive;not specified;Thiamine Metabolism Dysfunction Syndrome 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -130324 Simple 59736804 T . Benign/Likely benign 2 4 Basal ganglia disease, biotin-responsive;not specified;Thiamine Metabolism Dysfunction Syndrome 2017-08-14 -19.2 1.25 Benign/Likely benign 0 -130325 Simple 74693100 G . Benign/Likely benign 2 3 Basal ganglia disease, biotin-responsive;not specified;Thiamine Metabolism Dysfunction Syndrome 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -130327 Simple 1809352 G . Benign/Likely benign 2 2 Amish lethal microcephaly;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -130335 Simple 77339410 C . Benign/Likely benign 2 2 Histiocytosis-lymphadenopathy plus syndrome;not specified 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -130336 Simple 16928737 A . Benign/Likely benign 2 3 Histiocytosis-lymphadenopathy plus syndrome;not specified 2017-08-07 -13.2 1.6666666666666667 Benign/Likely benign 0 -130348 Simple 5398 A . Benign/Likely benign 2 2 Fanconi-Bickel syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -130349 Simple 5400 A . Benign/Likely benign 2 2 Fanconi-Bickel syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -130350 Simple 5402 A . Benign 2 3 Fanconi-Bickel syndrome;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -130351 Simple 5404 T . Benign/Likely benign 2 2 Fanconi-Bickel syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -130355 Simple 384573 G . Benign 2 3 not specified;not provided 2016-11-22 -15.0 2.6666666666666665 Benign/Likely benign 1 -130363 Simple 3759874 A . Benign/Likely benign 2 3 Spastic paraplegia 11, autosomal recessive;not specified;Spastic Paraplegia, Recessive 2017-05-15 -15.0 0.6666666666666666 Benign/Likely benign 0 -130364 Simple 3759873 C . Benign/Likely benign 2 4 Spastic paraplegia 11, autosomal recessive;not specified;Spastic Paraplegia, Recessive 2017-05-15 -21.0 0.75 Benign/Likely benign 0 -130367 Simple 35932349 T . Benign/Likely benign 2 4 Spastic paraplegia 11, autosomal recessive;not specified;Spastic Paraplegia, Recessive 2017-08-07 -21.0 0.5 Benign/Likely benign 0 -130368 Simple 2274293 C . Benign/Likely benign 2 2 Troyer syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -130369 Simple 2292954 G . Benign/Likely benign 2 2 Spastic paraplegia 7;not specified;Spastic Paraplegia, Recessive 2017-04-14 -9.0 0.5 Benign/Likely benign 0 -130370 Simple 12960 A . Benign/Likely benign 2 2 Spastic paraplegia 7;not specified;Spastic Paraplegia, Recessive 2017-04-14 -9.0 0.5 Benign/Likely benign 0 -130371 Simple 506028 G . Benign/Likely benign 2 2 Spinocerebellar ataxia 5;not specified;Spinocerebellar Ataxia, Dominant 2017-04-14 -12.0 0.5 Benign/Likely benign 0 -130372 Simple 34775878 A . Benign/Likely benign 2 2 Spinocerebellar ataxia 5;not specified;Spinocerebellar Ataxia, Dominant 2017-04-14 -9.0 0.5 Benign/Likely benign 0 -130375 Simple 80055718 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-14 -12.0 0.0 Benign/Likely benign 0 -130379 Simple 114112844 C . Benign/Likely benign 2 1 not specified;Early infantile epileptic encephalopathy 2017-07-19 . 0.0 . 0 -130380 Simple 12140044 T . Benign 2 4 not specified;Early infantile epileptic encephalopathy 2017-06-22 -21.0 1.75 Benign/Likely benign 1 -130382 Simple 1138484 C . Benign 2 2 Amish infantile epilepsy syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130383 Simple 773115 C . Benign/Likely benign 2 1 Sulfite oxidase deficiency;not specified 2016-06-14 . 1.0 . 0 -130385 Simple 12394306 C . Benign/Likely benign 2 2 Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified 2017-08-11 -9.6 2.5 Benign/Likely benign 0 -130386 Simple 62636605 A . Benign/Likely benign 2 2 Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified 2017-08-11 -10.2 2.0 Benign/Likely benign 0 -130387 Simple 138693624 G . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-09 -18.0 0.75 Benign/Likely benign 0 -130388 Simple 4407724 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130389 Simple 116758271 T . Benign/Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-24 -12.0 0.6666666666666666 Benign/Likely benign 0 -130390 Simple 62426382 G . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-31 -17.4 1.0 Benign/Likely benign 0 -130391 Simple 145911138 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-28 -18.0 0.75 Benign/Likely benign 0 -130392 Simple 9397106 T . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -22.2 1.75 Benign/Likely benign 0 -130393 Simple 9397102 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130394 Simple 13210127 G . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-07 -23.4 1.0 Benign/Likely benign 0 -130395 Simple 144596829 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-27 -17.4 1.0 Benign/Likely benign 0 -130396 Simple 60344647 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-19 -24.0 0.75 Benign 1 -130397 Simple 4645434 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130398 Simple 71575926 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130399 Simple 9479297 C . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 0 -130400 Simple 28385621 A . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-07-14 -23.4 1.25 Benign/Likely benign 0 -130401 Simple 117501809 G . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-04 -18.0 0.75 Benign/Likely benign 0 -130402 Simple 2130262 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-17 -24.0 0.75 Benign 1 -130403 Simple 10499268 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-07 -17.4 1.0 Benign/Likely benign 0 -130404 Simple 6911096 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -130405 Simple 3734365 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130406 Simple 116000545 T . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-01 -21.0 0.8 Benign/Likely benign 0 -130407 Simple 35085679 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-07 -17.4 1.0 Benign/Likely benign 0 -130408 Simple 2306916 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130409 Simple 9383987 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-02 -23.4 1.0 Benign/Likely benign 0 -130410 Simple 2306914 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-02 -23.4 1.0 Benign/Likely benign 0 -130411 Simple 76160752 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-11 -17.4 1.0 Benign/Likely benign 0 -130412 Simple 9383985 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130413 Simple 17082422 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-04-17 -18.0 0.75 Benign/Likely benign 0 -130414 Simple 12664753 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130415 Simple 116007471 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-09 -18.0 0.75 Benign/Likely benign 0 -130416 Simple 61746395 G . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-25 -18.0 0.75 Benign/Likely benign 0 -130417 Simple 9397509 C . Benign/Likely benign 2 8 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified;not provided 2017-07-07 -34.8 0.875 Benign 1 -130418 Simple 34905593 A . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-11 -19.5 1.6 Benign/Likely benign 0 -130419 Simple 2147377 C . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-09-26 -20.4 1.25 Benign/Likely benign 0 -130420 Simple 36044575 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-03 -24.0 0.75 Benign 1 -130421 Simple 34891041 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-11 -17.4 1.0 Benign/Likely benign 0 -130422 Simple 35763277 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-29 -18.0 0.75 Benign/Likely benign 0 -130423 Simple 3798756 A . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 0 -130424 Simple 34630198 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-04 -18.0 0.75 Benign/Likely benign 0 -130425 Simple 910415 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-31 -17.4 1.0 Benign/Likely benign 0 -130426 Simple 17082236 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130427 Simple 2252748 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -130428 Simple 2252755 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130429 Simple 2747662 C . Benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -130430 Simple 2256135 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130431 Simple 34610829 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-20 -18.0 0.75 Benign/Likely benign 0 -130432 Simple 77220999 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-09 -24.0 0.75 Benign 1 -130433 Simple 35591210 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130434 Simple 2295192 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130435 Simple 2295191 T . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-07 -28.8 1.2 Benign 1 -130436 Simple 2295190 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130437 Simple 17082709 C . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130438 Simple 214976 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130439 Simple 17082701 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130441 Simple 139524103 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-07 -18.0 0.75 Benign/Likely benign 0 -130443 Simple 35378260 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-20 -15.0 0.5 Benign/Likely benign 0 -130444 Simple 138705766 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-27 -17.4 1.0 Benign/Likely benign 0 -130445 Simple 77675624 T . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-17 -22.8 1.2 Benign/Likely benign 0 -130446 Simple 111250109 T . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-27 -23.4 1.0 Benign/Likely benign 0 -130448 Simple 75989452 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-28 -24.0 0.75 Benign 1 -130449 Simple 58905396 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-28 -24.0 0.75 Benign 1 -130450 Simple 56877632 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-28 -23.4 1.0 Benign/Likely benign 0 -130451 Simple 77121899 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-28 -17.4 1.0 Benign/Likely benign 0 -130452 Simple 214950 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130453 Simple 6913579 C . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-08-15 -23.4 1.25 Benign/Likely benign 0 -130455 Simple 73626656 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-02 -24.0 0.75 Benign 1 -130456 Simple 35203186 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -130457 Simple 78110192 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-09 -13.8 1.3333333333333333 Benign/Likely benign 0 -130458 Simple 34954189 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-05-30 -12.0 0.5 Benign/Likely benign 0 -130459 Simple 17101637 G . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130460 Simple 76576553 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-05-25 -12.0 0.5 Benign/Likely benign 0 -130461 Simple 10137972 C . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130462 Simple 2792205 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -130463 Simple 2781377 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -130464 Simple 75665958 C . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-28 -14.4 1.0 Benign/Likely benign 0 -130465 Simple 17101661 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -130467 Simple 61747118 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -130468 Simple 145218296 C . Benign 2 4 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-02 -21.0 2.0 Benign/Likely benign 1 -130469 Simple 35554503 A . Benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-28 -16.2 1.6666666666666667 Benign/Likely benign 1 -130470 Simple 36021513 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -130471 Simple 34944385 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -130473 Simple 7140414 G . Benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-08 -16.2 1.6666666666666667 Benign/Likely benign 1 -130474 Simple 34248042 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-05 -9.0 0.5 Benign/Likely benign 0 -130475 Simple 17766354 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -130476 Simple 12881815 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-11 -12.0 0.5 Benign/Likely benign 0 -130477 Simple 8007874 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -130478 Simple 17825431 C . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130479 Simple 11629287 T . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130480 Simple 10151658 A . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130481 Simple 142660236 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-09 -9.0 0.5 Benign/Likely benign 0 -130483 Simple 35190322 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-05 -9.0 0.5 Benign/Likely benign 0 -130484 Simple 17101704 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-03 -12.0 0.5 Benign/Likely benign 0 -130485 Simple 7161192 A . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130486 Simple 9944035 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -130487 Simple 2297301 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -130488 Simple 2256191 C . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130489 Simple 1152590 T . Benign 2 3 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -130490 Simple 35648226 T . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130491 Simple 78191145 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-05-03 -9.0 0.5 Benign/Likely benign 0 -130492 Simple 79037871 G . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-27 -20.4 0.75 Benign/Likely benign 0 -130493 Simple 17101525 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -130494 Simple 34001379 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-05-03 -9.0 0.5 Benign/Likely benign 0 -130495 Simple 57259697 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -130496 Simple 33976862 C . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130497 Simple 17751301 T . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130498 Simple 11158524 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -130499 Simple 7146588 A . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130500 Simple 35883188 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-05-03 -9.0 0.5 Benign/Likely benign 0 -130501 Simple 4902264 C . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130502 Simple 143410137 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-27 -17.4 1.0 Benign/Likely benign 0 -130503 Simple 10151127 T . Benign 2 3 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -130504 Simple 4027402 T . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130505 Simple 11850509 C . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130506 Simple 34625768 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -130507 Simple 7157465 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 0 -130508 Simple 4027404 A . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130509 Simple 111902869 C . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-28 -14.4 1.0 Benign/Likely benign 0 -130510 Simple 117423703 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-28 -14.4 1.0 Benign/Likely benign 0 -130511 Simple 4027405 A . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130512 Simple 11628107 G . Benign 2 4 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-02 -21.0 2.0 Benign/Likely benign 1 -130513 Simple 1890908 G . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130514 Simple 35960129 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -130515 Simple 114508894 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -130516 Simple 3829767 G . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130517 Simple 115969845 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -130518 Simple 34843668 T . Benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-02 -16.2 1.6666666666666667 Benign/Likely benign 1 -130519 Simple 11847087 G . Benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-03 -16.2 1.6666666666666667 Benign/Likely benign 1 -130520 Simple 8010911 C . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130521 Simple 8010699 G . Benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130530 Simple 191549504 C . Benign 2 3 Mental retardation, autosomal dominant 5;not specified;not provided 2017-07-24 -17.4 1.0 Benign/Likely benign 1 -130531 Simple 142359891 C . Benign 2 2 Mental retardation, autosomal dominant 5;not specified 2017-07-27 -11.4 1.0 Benign/Likely benign 1 -130534 Simple 73490287 T . Benign/Likely benign 2 4 Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-08-11 -18.0 2.0 Benign/Likely benign 0 -130536 Simple 12373107 A . Benign/Likely benign 2 4 Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-08-11 -18.6 1.75 Benign/Likely benign 0 -130537 Simple 201059992 A . Benign/Likely benign 2 4 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-07-31 -17.7 2.5 Benign/Likely benign 0 -130538 Simple 189089167 T . Benign/Likely benign 2 5 Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-08-04 -23.4 2.0 Benign/Likely benign 0 -130539 Simple 13339237 C . Benign/Likely benign 2 4 Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-08-14 -18.0 2.0 Benign/Likely benign 0 -130562 Simple 2071238 T . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130563 Simple 73270831 G . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130564 Simple 7701163 T . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130565 Simple 2071239 G . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130566 Simple 2071240 C . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130567 Simple 34796297 G . Benign/Likely benign 2 3 Treacher Collins syndrome 1;not specified;Treacher Collins Syndrome, Dominant 2017-02-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -130568 Simple 73270846 T . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130569 Simple 7713638 C . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130570 Simple 114689020 T . Benign/Likely benign 2 3 Treacher Collins syndrome 1;not specified;Treacher Collins Syndrome, Dominant 2017-02-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -130571 Simple 1136103 G . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130572 Simple 11743855 T . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130574 Simple 15251 T . Benign/Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -130575 Simple 45491898 C . Benign/Likely benign 2 2 Treacher Collins syndrome 1;not specified;Treacher Collins Syndrome, Dominant 2017-06-06 -9.0 0.5 Benign/Likely benign 0 -130576 Simple 11553577 G . Benign/Likely benign 2 1 not specified 2016-02-19 . 2.0 . 0 -130577 Simple 10786229 T . Benign/Likely benign 2 1 not specified 2016-01-08 . 2.0 . 0 -130578 Simple 41299157 G . Benign/Likely benign 2 3 not specified 2016-07-05 -15.6 2.3333333333333335 Benign/Likely benign 0 -130579 Simple 55859130 A . Benign/Likely benign 2 2 Orofacial-digital syndrome IV;not specified;Joubert syndrome 18 2017-07-26 -12.0 0.5 Benign/Likely benign 0 -130586 Simple 35245221 A . Benign/Likely benign 2 3 Joubert syndrome;not specified;Joubert syndrome 16 2017-07-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -130587 Simple 3743601 C . Benign/Likely benign 2 1 not specified 2016-02-02 . 2.0 . 0 -130589 Simple 114290622 C . Benign/Likely benign 2 2 not specified;Joubert syndrome 20;Meckel syndrome, type 11 2017-07-28 -12.0 0.5 Benign/Likely benign 0 -130590 Simple 144252983 C . Benign/Likely benign 2 2 not specified;Joubert syndrome 20;Meckel syndrome, type 11 2017-07-31 -12.0 0.5 Benign/Likely benign 0 -130591 Simple 2242406 T . Benign/Likely benign 2 2 not specified 2016-02-02 -10.8 2.0 Benign/Likely benign 0 -130592 Simple 73989521 A . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -130593 Simple 78297522 C . Benign/Likely benign 2 2 Joubert syndrome;Joubert syndrome 14;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -130594 Simple 6736435 C . Benign/Likely benign 2 3 Joubert syndrome;Joubert syndrome 14;not specified 2017-06-30 -15.0 0.6666666666666666 Benign/Likely benign 0 -130596 Simple 114036100 A . Benign/Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2017-07-10 -12.0 0.5 Benign/Likely benign 0 -130597 Simple 61935924 A . Benign 2 2 not specified 2016-01-30 -9.600000000000001 3.0 Benign/Likely benign 1 -130598 Simple 8075 C . Benign/Likely benign 2 2 not specified;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -130599 Simple 61732273 G . Benign/Likely benign 2 3 Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2;not specified;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2017-07-25 -12.6 2.0 Benign/Likely benign 0 -130602 Simple 67795913 C . Benign/Likely benign 2 3 not specified;Nemaline Myopathy, Recessive 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -130603 Simple 76630067 T . Benign/Likely benign 2 7 Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Nemaline Myopathy, Recessive 2016-06-14 -25.2 1.4285714285714286 Benign 1 -130605 Simple 35706972 A . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-08-14 -9.6 2.5 Benign/Likely benign 0 -130606 Simple 1800753 T . Benign/Likely benign 2 5 Neuronal ceroid lipofuscinosis;not specified;not provided;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-08-10 -23.400000000000002 2.0 Benign/Likely benign 0 -130608 Simple 1128396 A . Benign/Likely benign 2 1 not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 . 1.0 . 0 -130610 Simple 2555170 C . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-08-10 -12.6 2.0 Benign/Likely benign 0 -130612 Simple 143778652 A . Uncertain significance 2 3 not specified;not provided;Intellectual Disability, Recessive 2017-02-22 -0.8099999999999999 2.0 Uncertain significance 0 -130613 Simple 148523016 C . Benign/Likely benign 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -130615 Simple 146235874 T . Uncertain significance 2 2 not provided;Intellectual Disability, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -130622 Simple 12549048 A . Benign/Likely benign 2 1 not specified;Intellectual Disability, Recessive 2016-06-14 . 1.0 . 0 -130625 Simple 11166965 A . Benign/Likely benign 2 1 not specified;Intellectual Disability, Recessive 2016-06-14 . 1.0 . 0 -130626 Simple 11166964 T . Benign/Likely benign 2 1 not specified;Intellectual Disability, Recessive 2016-06-14 . 1.0 . 0 -130630 Simple 2614718 A . Benign/Likely benign 2 1 not specified;Intellectual Disability, Recessive 2016-06-14 . 1.0 . 0 -130634 Simple 3735801 G . Benign/Likely benign 2 1 not specified;Intellectual Disability, Recessive 2016-06-14 . 1.0 . 0 -130635 Simple 3735802 G . Benign/Likely benign 2 1 not specified;Intellectual Disability, Recessive 2016-06-14 . 1.0 . 0 -130637 Simple 587780486 A . Pathogenic 2 2 Mental retardation, autosomal recessive 13;not provided 2015-05-07 10.2 2.5 Pathogenic/Likely pathogenic 1 -130639 Simple 3735803 A . Benign/Likely benign 2 1 not specified;Intellectual Disability, Recessive 2016-06-14 . 1.0 . 0 -130640 Simple 115986561 A . Benign/Likely benign 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -130643 Simple 139963953 C . Benign/Likely benign 2 4 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -16.5 1.75 Benign/Likely benign 0 -130646 Simple 6493068 G . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -11.4 1.5 Benign/Likely benign 0 -130648 Simple 34486024 C . Benign/Likely benign 2 1 not specified 2016-10-06 . 1.0 . 0 -130649 Simple 16851307 A . Benign/Likely benign 2 5 Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified;not provided 2017-01-05 -23.4 1.2 Benign/Likely benign 0 -130650 Simple 6750044 A . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Joubert syndrome;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130652 Simple 10176588 G . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Joubert syndrome;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130653 Simple 79656636 A . Benign/Likely benign 2 4 Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified 2017-08-08 -18.0 0.75 Benign/Likely benign 0 -130654 Simple 73018799 A . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Nephronophthisis;not specified 2017-04-26 -18.0 0.6666666666666666 Benign/Likely benign 0 -130655 Simple 115504901 G . Benign/Likely benign 2 4 Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified 2017-07-11 -17.4 1.0 Benign/Likely benign 0 -130656 Simple 140384742 A . Uncertain significance 2 2 not specified;not provided 2017-11-02 -0.51 2.0 Uncertain significance 0 -130657 Simple 1432273 T . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Joubert syndrome;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130658 Simple 80026831 A . Benign/Likely benign 2 6 Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified 2017-02-22 -28.8 1.3333333333333333 Benign 1 -130660 Simple 7592429 C . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Joubert syndrome;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -130661 Simple 112868646 C . Benign/Likely benign 2 6 Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified 2017-02-22 -28.8 1.3333333333333333 Benign 1 -130663 Simple 146000949 T . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-31 -1.35 1.8 Uncertain significance 0 -130667 Simple 192953152 C . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-25 -10.2 2.5 Benign/Likely benign 1 -130670 Simple 373305248 A . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-06-27 -1.29 2.0 Uncertain significance 0 -130671 Simple 151335428 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-07 -15.9 1.75 Benign/Likely benign 0 -130682 Simple 55892928 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -21.0 2.0 Benign/Likely benign 0 -130685 Simple 369237346 T . Uncertain significance 2 2 not specified;not provided 2016-02-11 -0.48 3.0 Uncertain significance 0 -130687 Simple 545443009 G . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-02 -2.31 1.25 Uncertain significance 0 -130692 Simple 11545035 G . Benign/Likely benign 2 3 not specified;not provided 2017-01-11 -14.4 1.3333333333333333 Benign/Likely benign 0 -130693 Simple 11479 A . Benign/Likely benign 2 3 Mitochondrial DNA depletion syndrome 1 (MNGIE type);not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 0 -130694 Simple 131804 A . Benign/Likely benign 2 6 Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -31.2 2.3333333333333335 Benign 1 -130700 Simple 34080096 C . Benign/Likely benign 2 2 not specified 2016-12-19 -8.4 1.5 Benign/Likely benign 0 -130703 Simple 6143 T . Benign/Likely benign 2 2 not specified;Cerebellar hypoplasia 2016-06-14 -7.8 2.0 Likely benign 1 -130705 Simple 6149 A . Benign/Likely benign 2 2 not specified;Cerebellar hypoplasia 2016-06-14 -7.2 2.5 Likely benign 1 -130710 Simple 34336270 A . Benign/Likely benign 2 2 not specified;Cerebellar hypoplasia 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -130713 Simple 2219143 A . Benign 2 4 not specified;Cerebellar hypoplasia 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -130714 Simple 139671268 A . Uncertain significance 2 2 not specified;not provided 2017-04-11 -0.54 1.5 Uncertain significance 0 -130718 Simple 115369860 A . Benign/Likely benign 2 2 Cohen syndrome;not specified 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -130721 Simple 7844645 G . Benign/Likely benign 2 2 Cohen syndrome;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -130722 Simple 77759532 G . Benign/Likely benign 2 2 Cohen syndrome;not specified 2017-07-07 -9.0 0.5 Benign/Likely benign 0 -130724 Simple 34941871 T . Benign/Likely benign 2 2 Cohen syndrome;not specified 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -130725 Simple 75933366 A . Benign/Likely benign 2 2 Cohen syndrome;not specified;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -130726 Simple 587780498 A . Uncertain significance 2 2 not specified;not provided 2014-10-14 -0.48 3.0 Uncertain significance 0 -130727 Simple 138930771 G . Uncertain significance 2 2 not specified;not provided 2017-03-14 -0.54 1.5 Uncertain significance 0 -130728 Simple 75904081 A . Benign/Likely benign 2 2 Cohen syndrome;not specified 2017-08-11 -12.0 0.0 Benign/Likely benign 0 -130729 Simple 184381851 G . Benign/Likely benign 2 2 not specified 2017-03-03 -8.4 1.5 Benign/Likely benign 0 -130730 Simple 139476915 T . Uncertain significance 2 5 Pontocerebellar hypoplasia type 1A;Pontoneocerebellar hypoplasia;not specified;not provided 2017-06-05 -1.41 1.0 Uncertain significance 0 -130731 Simple 2145635 G . Benign/Likely benign 2 1 Pontoneocerebellar hypoplasia;not specified 2016-06-14 . 1.0 . 0 -130732 Simple 2230532 T . Benign/Likely benign 2 1 Pontoneocerebellar hypoplasia;not specified 2016-06-14 . 1.0 . 0 -130749 Simple 71524375 T . Benign/Likely benign 2 5 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -18.0 3.0 Benign/Likely benign 0 -130750 Simple 202195756 A . Uncertain significance 2 2 not specified;not provided 2014-06-05 -0.44999999999999996 3.5 Uncertain significance 0 -130751 Simple 1801215 T . Benign/Likely benign 2 5 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -18.0 3.0 Benign/Likely benign 0 -130752 Simple 71524363 T . Benign/Likely benign 2 5 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -18.6 2.8 Benign/Likely benign 0 -130753 Simple 3087409 A . Benign/Likely benign 2 1 Werner syndrome;not specified 2016-06-14 . 1.0 . 0 -130754 Simple 3024239 T . Benign/Likely benign 2 2 Werner syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -130755 Simple 2737335 A . Benign/Likely benign 2 2 Werner syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -130756 Simple 3087414 T . Benign/Likely benign 2 2 Werner syndrome;not specified 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -130757 Simple 1800391 A . Benign/Likely benign 2 2 Werner syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -130758 Simple 1800392 T . Benign/Likely benign 2 1 Werner syndrome;not specified 2016-06-14 . 1.0 . 0 -130759 Simple 1801195 T . Benign/Likely benign 2 1 Werner syndrome;not specified 2016-06-14 . 1.0 . 0 -130760 Simple 2230009 A . Benign/Likely benign 2 1 Werner syndrome;not specified 2016-06-14 . 1.0 . 0 -130761 Simple 1801196 T . Benign/Likely benign 2 1 Werner syndrome;not specified 2016-06-14 . 1.0 . 0 -130762 Simple 1346044 C . Benign/Likely benign 2 2 Werner syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -130763 Simple 1800389 T . Benign 2 2 Werner syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130770 Simple 142917604 T . Uncertain significance 2 2 not provided;Transient Neonatal Diabetes, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -130771 Simple 9461544 C . Benign/Likely benign 2 2 not specified;Transient Neonatal Diabetes, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -130774 Simple 114591600 T . Benign/Likely benign 2 2 not specified;Transient Neonatal Diabetes, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -130776 Simple 17104689 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-07-26 -15.0 0.6666666666666666 Benign/Likely benign 0 -130777 Simple 7143196 T . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Recessive 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -130778 Simple 112787369 T . Benign/Likely benign 2 4 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-08-08 -18.6 1.75 Benign/Likely benign 0 -130779 Simple 7156492 C . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-07-26 -15.0 0.6666666666666666 Benign/Likely benign 0 -130780 Simple 3742885 A . Benign/Likely benign 2 4 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-08-02 -21.0 0.5 Benign/Likely benign 0 -130781 Simple 3742884 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-07-26 -15.0 0.6666666666666666 Benign/Likely benign 0 -130782 Simple 2235967 T . Benign/Likely benign 2 4 not specified;Spastic Paraplegia, Recessive 2017-07-19 -20.4 1.0 Benign/Likely benign 0 -130783 Simple 3742883 C . Benign/Likely benign 2 3 not specified;Spastic Paraplegia, Recessive 2017-07-24 -17.4 1.0 Benign/Likely benign 0 -130785 Simple 17108378 A . Benign/Likely benign 2 2 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -130786 Simple 75060573 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-07-25 -15.0 0.6666666666666666 Benign/Likely benign 0 -130787 Simple 10882993 T . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -130790 Simple 141386841 G . Uncertain significance 2 3 Lethal tight skin contracture syndrome;Mandibuloacral dysplasia;not provided 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -130809 Simple 117802609 T . Likely benign 2 3 not specified;not provided 2016-10-10 -8.7 1.3333333333333333 Benign/Likely benign 1 -130853 Simple 145478020 T . Benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -130856 Simple 41312157 G . Benign/Likely benign 2 3 Non-syndromic X-linked intellectual disability;not specified;not provided 2017-05-19 -12.0 0.6666666666666666 Benign/Likely benign 0 -130857 Simple 186251256 T . Benign/Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -130859 Simple 183846665 T . Benign/Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -132133 Simple 869320740 G . Pathogenic 2 8 Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2017-07-27 44.400000000000006 1.625 Pathogenic 0 -132141 Simple 515726205 T . Pathogenic 2 2 Neurodegeneration with brain iron accumulation 4;Spastic paraplegia 43, autosomal recessive;Mental deterioration;Dystonia;Tremor;Adult-onset night blindness;Peripheral visual field loss 2017-03-16 11.4 1.0 Pathogenic/Likely pathogenic 1 -132142 Simple 148954387 G . Pathogenic 2 2 Hereditary pancreatitis;not specified 2017-06-19 12.0 0.0 Pathogenic/Likely pathogenic 1 -132150 Simple 515726210 . . Pathogenic 2 2 Hereditary pancreatitis;not specified 2017-02-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -132651 Simple 1805127 C . Benign 2 8 Hearing loss, noise-induced, susceptibility to;Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2016-06-14 -40.2 2.625 Benign 0 -132657 Simple 199473644 T . Uncertain significance 2 2 Long QT syndrome;not specified;Congenital long QT syndrome 2016-09-05 -0.51 2.5 Uncertain significance 0 -132670 Simple 199473348 A . Uncertain significance 2 3 Long QT syndrome;not specified;Congenital long QT syndrome 2016-12-19 -0.84 1.6666666666666667 Uncertain significance 0 -132673 Simple 199473360 T . Uncertain significance 2 2 not specified;Congenital long QT syndrome;Cardiovascular phenotype 2017-09-21 -0.6 0.5 Uncertain significance 0 -132678 Simple 77442996 T . Uncertain significance 2 3 Long QT syndrome;not specified;not provided 2017-06-01 -0.84 1.3333333333333333 Uncertain significance 0 -132684 Simple 587780530 GCCGCC . Benign/Likely benign 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-03-31 -13.8 2.0 Benign/Likely benign 0 -132685 Simple 3218707 C . Benign/Likely benign 2 7 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-21 -32.7 2.4285714285714284 Benign 1 -132686 Simple 13312938 A . Benign/Likely benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -24.0 1.8 Benign 1 -132687 Simple 587780531 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.25 Benign/Likely benign 1 -132688 Simple 35634377 C . Benign/Likely benign 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-12 -25.2 1.5 Benign 1 -132690 Simple 115321485 T . Benign/Likely benign 2 6 Microcephaly, normal intelligence and immunodeficiency;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-14 -26.1 1.8333333333333333 Benign 1 -132691 Simple 35572415 T . Benign/Likely benign 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-08-21 -31.8 1.0 Benign 1 -132692 Simple 33963999 C . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -18.6 1.75 Benign/Likely benign 0 -132693 Simple 1801250 C . Benign/Likely benign 2 9 Myhre syndrome;Juvenile polyposis syndrome;Osler hemorrhagic telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-08-18 -36.6 1.3333333333333333 Benign 1 -132695 Simple 1800057 G . Benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -26.4 2.0 Benign 0 -132696 Simple 4986839 C . Benign/Likely benign 2 6 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -26.400000000000002 1.6666666666666667 Benign 1 -132699 Simple 2227970 C . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-15 -16.8 1.25 Benign/Likely benign 0 -132700 Simple 2066830 A . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-10 -18.0 0.75 Benign/Likely benign 0 -132701 Simple 587780535 C . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-03 -8.4 1.3333333333333333 Benign/Likely benign 1 -132702 Simple 28363317 G . Benign/Likely benign 2 12 Fanconi anemia;Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;not provided;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2017-08-11 -49.2 1.4166666666666667 Benign 1 -132704 Simple 376836050 T . Benign/Likely benign 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -21.3 2.0 Benign/Likely benign 0 -132705 Simple 67622085 A . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-10 -32.4 1.5714285714285714 Benign 1 -132706 Simple 3092829 C . Benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -27.0 1.8 Benign 0 -132708 Simple 1800370 T . Benign/Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -19.2 1.5 Benign/Likely benign 0 -132710 Simple 587780538 A . Pathogenic 2 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-13 11.4 1.0 Pathogenic/Likely pathogenic 1 -132711 Simple 587780539 G . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-06-22 -5.7 1.0 Likely benign 0 -132712 Simple 202072866 C . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -1.7999999999999998 0.5 Uncertain significance 0 -132713 Simple 9282835 T . Benign/Likely benign 2 12 Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified;not provided;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-08-21 -55.8 1.5 Benign 1 -132714 Simple 4987943 G . Benign/Likely benign 2 6 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -28.2 1.1666666666666667 Benign 1 -132715 Simple 56355831 C . Benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-15 -16.2 1.6666666666666667 Benign/Likely benign 1 -132716 Simple 35523678 T . Benign/Likely benign 2 3 Hereditary pancreatitis;not specified 2017-07-26 -12.0 0.3333333333333333 Benign/Likely benign 0 -132719 Simple 1805153 A . Benign/Likely benign 2 5 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-14 -24.0 0.8 Benign 1 -132720 Simple 1801023 A . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -23.4 2.0 Benign/Likely benign 0 -132721 Simple 61758784 A . Benign/Likely benign 2 7 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -33.0 1.5714285714285714 Benign 1 -132722 Simple 587780542 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-10 -1.17 0.75 Uncertain significance 0 -132724 Simple 528823385 A . Benign/Likely benign 2 7 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-08-04 -23.4 1.1428571428571428 Benign/Likely benign 0 -132725 Simple 587780543 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-23 -8.7 0.6666666666666666 Benign/Likely benign 1 -132726 Simple 1805154 C . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-11 -18.0 0.75 Benign/Likely benign 0 -132730 Simple 192027828 G . Benign/Likely benign 2 6 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-10 -23.7 1.8333333333333333 Benign/Likely benign 0 -132731 Simple 56102979 A . Benign/Likely benign 2 4 Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-07-20 -18.0 0.75 Benign/Likely benign 0 -132739 Simple 55992440 G . Benign/Likely benign 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -27.3 1.6666666666666667 Benign 1 -132740 Simple 150512958 A . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -8.7 1.0 Benign/Likely benign 0 -132742 Simple 376069508 C . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-09 -5.4 1.5 Likely benign 0 -132744 Simple 61754795 G . Benign/Likely benign 2 8 Microcephaly, normal intelligence and immunodeficiency;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 -32.4 1.75 Benign 1 -132745 Simple 140487104 T . Benign/Likely benign 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -19.8 1.4 Benign/Likely benign 0 -132746 Simple 113676921 G . Benign/Likely benign 2 3 Carcinoma of pancreas;not specified;Pancreatic adenocarcinoma 2017-07-18 -13.2 1.6666666666666667 Benign/Likely benign 0 -132748 Simple 74531854 T . Benign/Likely benign 2 2 Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2017-05-29 -9.0 0.5 Benign/Likely benign 0 -132750 Simple 587780551 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -132751 Simple 201035780 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -1.17 0.75 Uncertain significance 0 -132753 Simple 574880967 A . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-09-07 -0.6 0.0 Uncertain significance 0 -132754 Simple 200073907 G . Benign/Likely benign 2 7 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -20.7 2.142857142857143 Benign/Likely benign 0 -132755 Simple 544909538 C . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-03-09 -1.2 0.75 Uncertain significance 0 -132760 Simple 121908380 A . Benign/Likely benign 2 10 MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-22 -43.2 1.9 Benign 1 -132761 Simple 78608315 C . Benign/Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -16.2 2.0 Benign/Likely benign 0 -132762 Simple 140464432 A . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.87 1.0 Uncertain significance 0 -132763 Simple 61734287 T . Benign/Likely benign 2 8 Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-11 -40.8 1.75 Benign 1 -132764 Simple 182828913 T . Benign 2 7 Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -37.8 1.8571428571428572 Benign 0 -132765 Simple 377284387 T . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-03 -5.7 1.0 Likely benign 0 -132766 Simple 587780555 AA . Benign/Likely benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -22.5 1.4 Benign/Likely benign 0 -132767 Simple 587780556 G . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -8.4 1.3333333333333333 Benign/Likely benign 1 -132770 Simple 376257217 A . Likely benign 3 7 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -18.0 1.0 Benign/Likely benign 1 -132777 Simple 12516 A . Benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-01-12 -12.48 2.6666666666666665 Benign/Likely benign 1 -132778 Simple 8176319 A . Benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-01-12 -12.48 2.6666666666666665 Benign/Likely benign 1 -132779 Simple 206075 G . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -88.08 2.2941176470588234 Benign 0 -132780 Simple 206076 C . Benign 3 17 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -88.08 2.2941176470588234 Benign 0 -132781 Simple 34351119 G . Benign 3 15 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -74.88 1.9333333333333333 Benign 0 -132799 Simple 587777385 T . Pathogenic/Likely pathogenic 2 2 Visceral myopathy;not provided 2015-11-24 7.5 2.5 Likely pathogenic 1 -132800 Simple 78001248 T . Pathogenic 2 2 Visceral myopathy;not provided 2016-04-26 10.8 2.0 Pathogenic/Likely pathogenic 1 -132801 Simple 587777384 A . Pathogenic 2 2 Visceral myopathy;Inborn genetic diseases 2015-05-02 9.0 3.5 Pathogenic/Likely pathogenic 1 -132803 Simple 587777387 T . Pathogenic 2 3 Visceral myopathy;not provided;Megacystis;Inborn genetic diseases;Chronic intestinal pseudoobstruction 2016-11-04 15.6 2.3333333333333335 Pathogenic 0 -132890 Simple 483352886 T . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease type C1 2016-01-29 7.800000000000001 2.5 Likely pathogenic 1 -132925 Simple 606231324 T . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1S;Cardiomyopathy;Familial cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy 2017-11-08 12.0 0.5 Pathogenic/Likely pathogenic 0 -132972 Simple 72661118 A . Benign/Likely benign 2 4 Li-Fraumeni syndrome 1;Neoplasm of ovary;Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -13.5 1.5 Benign/Likely benign 0 -132994 Simple 193922837 G . Pathogenic 2 2 Central core disease;not provided;RYR1-Related Disorders 2017-07-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -132999 Simple 55876273 C . Benign/Likely benign 2 8 Malignant hyperthermia, susceptibility to, 1;Malignant hyperthermia susceptibility;not specified;not provided;Malignant hypothermia;RYR1-Related Disorders 2017-08-08 -39.6 2.0 Benign 1 -133011 Simple 4802584 G . Benign 2 9 Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-22 -48.0 2.0 Benign 0 -133014 Simple 142518033 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-17 -27.0 1.5714285714285714 Benign 1 -133019 Simple 45613041 A . Benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-22 -43.8 1.75 Benign 0 -133022 Simple 2292799 G . Benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -37.8 2.0 Benign 0 -133026 Simple 193922842 G . Pathogenic 2 2 Malignant hyperthermia, susceptibility to, 1;not provided;RYR1-Related Disorders 2017-07-24 10.2 2.0 Pathogenic/Likely pathogenic 1 -133043 Simple 193922855 T . Uncertain significance 2 4 not specified;not provided;RYR1-Related Disorders 2017-09-14 -1.1099999999999999 1.25 Uncertain significance 0 -133049 Simple 2960319 A . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-21 -32.4 1.625 Benign 1 -133053 Simple 193922860 A . Uncertain significance 2 2 not specified;not provided;RYR1-Related Disorders 2017-01-24 -0.6 1.0 Uncertain significance 0 -133098 Simple 146876145 T . Likely pathogenic 2 4 Central core disease;Malignant hyperthermia, susceptibility to, 1;not provided;RYR1-Related Disorders 2017-04-28 10.5 2.0 Pathogenic/Likely pathogenic 1 -133103 Simple 144336148 A . Uncertain significance 2 2 Malignant hyperthermia, susceptibility to, 1;not specified;not provided;RYR1-Related Disorders 2017-07-13 -0.6 0.5 Uncertain significance 0 -133123 Simple 2228074 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-05 -25.8 1.0 Benign 1 -133134 Simple 35480887 A . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-04-03 -34.8 1.125 Benign 1 -133149 Simple 34934920 T . Benign/Likely benign 2 9 Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;Malignant hypothermia;RYR1-Related Disorders 2017-08-21 -36.6 1.8888888888888888 Benign 1 -133152 Simple 892054 T . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-07-17 -27.0 1.5714285714285714 Benign 1 -133168 Simple 193922795 A . Uncertain significance 2 2 Malignant hyperthermia, susceptibility to, 1;not specified;not provided;RYR1-Related Disorders 2017-06-05 -0.54 1.5 Uncertain significance 0 -133183 Simple 193922803 T . Pathogenic 2 2 Minicore myopathy with external ophthalmoplegia;not provided 2017-11-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -133190 Simple 78795178 T . Benign 2 9 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-15 -50.4 1.4444444444444444 Benign 0 -133191 Simple 12973632 T . Benign 2 9 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-22 -48.0 2.0 Benign 0 -133204 Simple 193922817 T . Uncertain significance 2 2 Malignant hyperthermia, susceptibility to, 1;not provided 2016-03-18 -0.51 2.5 Uncertain significance 0 -133209 Simple 1465698 T . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-22 -32.4 1.625 Benign 1 -133223 Simple 35180584 G . Benign/Likely benign 2 9 Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;Malignant hypothermia;RYR1-Related Disorders 2017-07-10 -36.6 1.8888888888888888 Benign 1 -133234 Simple 2229140 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-07-12 -30.0 0.8571428571428571 Benign 1 -133241 Simple 193922833 A . Uncertain significance 2 2 Central core disease;not specified;not provided 2017-07-22 -0.6 0.0 Uncertain significance 0 -133244 Simple 2960328 T . Benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided 2016-06-14 -38.4 1.8571428571428572 Benign 0 -133284 Simple 137852789 T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome;Sarcoma 2017-06-14 -0.6 0.5 Uncertain significance 0 -133313 Simple 483353056 T . Pathogenic/Likely pathogenic 2 1 Usher syndrome, type 2A;not provided 2015-03-24 . 2.0 . 0 -133326 Simple 587779766 - . Pathogenic 2 2 not provided;Delayed speech and language development;Xia-Gibbs syndrome;Intellectual disability;Global developmental delay;Neonatal hypotonia;Sleep apnea;Muscular hypotonia 2016-03-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -133386 Simple 76118382 T . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-08-05 -8.100000000000001 2.0 Likely benign 1 -133457 Simple 201490095 A . Likely benign 2 2 Neuroblastoma 3;not specified;Neuroblastoma Susceptibility 2017-08-07 -6.0 0.5 Likely benign 0 -133462 Simple 35228363 A . Benign/Likely benign 2 4 Neuroblastoma 3;not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-04 -21.0 0.75 Benign/Likely benign 0 -133463 Simple 376175333 T . Benign/Likely benign 2 2 Neuroblastoma 3;not specified;Neuroblastoma Susceptibility 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -133465 Simple 35073634 A . Benign/Likely benign 2 3 Neuroblastoma 3;not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-11 -15.0 0.6666666666666666 Benign/Likely benign 0 -133471 Simple 138827116 - . Benign/Likely benign 2 3 Neuroblastoma 3;not specified;Neuroblastoma Susceptibility 2017-08-04 -14.4 1.0 Benign/Likely benign 0 -133472 Simple 1670283 C . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-08 -22.8 1.5 Benign/Likely benign 1 -133474 Simple 1881420 C . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-12 -24.0 1.0 Benign 0 -133475 Simple 139437088 C . Benign/Likely benign 2 2 Neuroblastoma 3;not specified;Neuroblastoma Susceptibility 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -133476 Simple 1881421 C . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-12 -24.0 1.0 Benign 0 -133478 Simple 201768549 T . Uncertain significance 2 2 Neuroblastoma 3;not specified;Neuroblastoma Susceptibility 2017-03-11 -0.6 0.5 Uncertain significance 0 -133480 Simple 150966028 T . Benign/Likely benign 2 2 Neuroblastoma 3;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -133483 Simple 149968229 T . Likely benign 2 2 Neuroblastoma 3;not specified;Neuroblastoma Susceptibility 2017-06-08 -6.0 0.5 Likely benign 0 -133485 Simple 35093491 G . Benign/Likely benign 2 4 Neuroblastoma 3;not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-10 -18.0 0.5 Benign/Likely benign 0 -133505 Simple 113782655 A . Benign 2 5 Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -26.400000000000002 2.0 Benign 0 -133508 Simple 587778030 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -133515 Simple 371616945 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-23 -1.5 1.0 Uncertain significance 0 -133517 Simple 147972247 G . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-10-06 -18.0 0.4 Benign/Likely benign 0 -133518 Simple 201830995 T . Benign/Likely benign 2 5 Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -20.4 0.6 Benign/Likely benign 0 -133519 Simple 371113837 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-16 -1.2 1.0 Uncertain significance 0 -133523 Simple 587778037 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-06-13 -0.5700000000000001 1.0 Uncertain significance 0 -133524 Simple 72541809 A . Benign/Likely benign 2 8 Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-11 -36.0 2.125 Benign 1 -133534 Simple 587778043 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-15 -0.87 0.6666666666666666 Uncertain significance 0 -133535 Simple 587778044 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -133536 Simple 587778045 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2016-08-02 -0.5700000000000001 1.5 Uncertain significance 0 -133539 Simple 376628500 C . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -1.5 0.6 Uncertain significance 0 -133552 Simple 41303631 A . Benign/Likely benign 2 2 not specified;not provided 2017-06-12 -8.4 1.0 Benign/Likely benign 0 -133556 Simple 367889013 C . Benign/Likely benign 2 2 not specified;not provided 2016-07-14 -8.4 1.5 Benign/Likely benign 0 -133586 Simple 74638057 T . Benign 2 2 C-like syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -133592 Simple 3746609 A . Benign 2 2 C-like syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -133594 Simple 143594454 T . Benign/Likely benign 2 2 C-like syndrome;not specified;not provided 2017-03-31 -9.0 0.5 Benign/Likely benign 0 -133602 Simple 2235000 A . Benign/Likely benign 2 8 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-18 -40.2 1.875 Benign 1 -133603 Simple 35963548 A . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -1.2 0.0 Uncertain significance 0 -133604 Simple 2227924 G . Benign/Likely benign 2 7 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-19 -33.0 2.2857142857142856 Benign 1 -133606 Simple 587778066 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-03 -0.6 0.5 Uncertain significance 0 -133607 Simple 3218695 A . Benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -19.8 2.5 Benign/Likely benign 1 -133608 Simple 587778067 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -1.2 0.25 Uncertain significance 0 -133610 Simple 3218673 T . Benign/Likely benign 2 7 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-19 -33.0 2.2857142857142856 Benign 1 -133611 Simple 587778069 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.2 0.5 Uncertain significance 0 -133615 Simple 2229020 G . Benign/Likely benign 2 7 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-21 -31.8 1.8571428571428572 Benign 1 -133616 Simple 587778073 A . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.5 0.6 Uncertain significance 0 -133617 Simple 587778074 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -133619 Simple 3092856 T . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -24.6 1.6 Benign 1 -133620 Simple 587778075 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-27 -0.87 1.3333333333333333 Uncertain significance 0 -133624 Simple 370680798 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -9.0 0.0 Benign/Likely benign 1 -133625 Simple 200151849 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -1.2 0.5 Uncertain significance 0 -133628 Simple 145847315 G . Benign/Likely benign 2 8 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -36.0 2.25 Benign 1 -133629 Simple 1800060 A . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -22.8 2.0 Benign/Likely benign 0 -133630 Simple 56815840 C . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -22.8 2.0 Benign/Likely benign 0 -133631 Simple 4988111 C . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-19 -22.5 2.4 Benign/Likely benign 0 -133632 Simple 2234998 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.0 Uncertain significance 0 -133633 Simple 587778079 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -1.17 0.5 Uncertain significance 0 -133634 Simple 4988125 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -0.8999999999999999 0.0 Uncertain significance 0 -133635 Simple 377648506 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -133636 Simple 531980488 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.2 0.25 Uncertain significance 0 -133637 Simple 587778080 T . Pathogenic 2 5 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-16 28.8 0.8 Pathogenic 0 -133638 Simple 529296539 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-27 -1.2 0.0 Uncertain significance 0 -133639 Simple 547045780 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.17 1.0 Uncertain significance 0 -133640 Simple 145355104 T . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-03-31 -1.47 1.0 Uncertain significance 0 -133641 Simple 376676328 G . Uncertain significance 2 5 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.5 0.0 Uncertain significance 0 -133655 Simple 61752457 A . Benign/Likely benign 2 4 ATR-X syndrome;not specified 2017-06-14 -19.8 1.5 Benign/Likely benign 0 -133659 Simple 61758732 G . Benign/Likely benign 2 3 ATR-X syndrome;not specified 2017-07-13 -14.7 0.6666666666666666 Benign/Likely benign 0 -133660 Simple 45624939 G . Benign 2 2 ATR-X syndrome;not specified 2017-06-14 -10.8 1.5 Benign/Likely benign 1 -133663 Simple 576538858 T . Uncertain significance 2 2 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -0.6 0.0 Uncertain significance 0 -133664 Simple 79014342 C . Benign 2 6 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -34.8 1.0 Benign 0 -133665 Simple 35448940 A . Benign/Likely benign 2 4 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -15.0 0.25 Benign/Likely benign 0 -133666 Simple 370004702 T . Uncertain significance 2 4 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.2 0.25 Uncertain significance 0 -133695 Simple 187172641 C . Benign 2 2 Oculofaciocardiodental syndrome;not specified 2017-05-02 -11.4 1.0 Benign/Likely benign 1 -133701 Simple 28385141 A . Likely benign 2 2 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -6.0 0.0 Likely benign 0 -133703 Simple 139282091 T . Uncertain significance 2 2 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.0 Uncertain significance 0 -133707 Simple 28384988 G . Benign/Likely benign 2 5 Bloom syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 -21.6 1.4 Benign/Likely benign 0 -133708 Simple 35886055 G . Benign/Likely benign 2 5 Bloom syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 -24.0 1.8 Benign 1 -133711 Simple 149598003 G . Uncertain significance 2 2 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.0 Uncertain significance 0 -133726 Simple 587778118 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-22 -0.6 0.5 Uncertain significance 0 -133728 Simple 587778119 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-05-25 -1.1099999999999999 1.5 Uncertain significance 0 -133729 Simple 587778120 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-10-26 -0.87 1.3333333333333333 Uncertain significance 0 -133732 Simple 587778123 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-05-22 -0.54 2.0 Uncertain significance 0 -133734 Simple 397507631 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-11 -0.54 2.0 Uncertain significance 0 -133736 Simple 370252983 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.54 1.5 Uncertain significance 0 -133742 Simple 572782576 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -133745 Simple 138784299 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.6 0.5 Uncertain significance 0 -133748 Simple 587778133 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -133750 Simple 587778135 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-22 -0.51 2.5 Uncertain significance 0 -133751 Simple 111536363 C . Benign/Likely benign 2 10 Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-11 -44.7 1.5 Benign 1 -133752 Simple 45589637 A . Uncertain significance 2 8 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-02 -2.4 0.5 Uncertain significance 0 -133753 Simple 571108955 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-26 -1.2 0.25 Uncertain significance 0 -133754 Simple 587778136 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.5 Uncertain significance 0 -133756 Simple 4986764 G . Benign/Likely benign 2 10 Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-18 -51.6 1.2 Benign 1 -133757 Simple 4988356 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -133759 Simple 587778137 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-22 -0.51 2.5 Uncertain significance 0 -133760 Simple 116952709 T . Benign/Likely benign 2 8 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-16 -41.4 1.625 Benign 1 -133761 Simple 4988345 A . Benign/Likely benign 2 9 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 -32.1 1.5555555555555556 Benign 1 -133769 Simple 1801528 C . Benign 2 1 not specified;Mosaic variegated aneuploidy syndrome 2017-08-17 . 0.0 . 0 -133807 Simple 587778154 T . Uncertain significance 2 2 not specified;Noonan-Like Syndrome Disorder 2016-12-19 -0.6 1.0 Uncertain significance 0 -133813 Simple 17122769 A . Benign/Likely benign 2 6 not specified;not provided;Rasopathy;Noonan-Like Syndrome Disorder 2017-07-19 -25.2 2.0 Benign 1 -133845 Simple 587778170 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -1.17 0.5 Uncertain significance 0 -133846 Simple 2276331 G . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -19.5 1.2 Benign/Likely benign 0 -133847 Simple 550612843 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -0.8999999999999999 0.0 Uncertain significance 0 -133848 Simple 376854556 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.0 Uncertain significance 0 -133849 Simple 530717933 A . Uncertain significance 2 6 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -1.77 0.6666666666666666 Uncertain significance 0 -133850 Simple 587778171 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -133853 Simple 546716073 A . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -18.0 0.25 Benign/Likely benign 0 -133854 Simple 587778175 G . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -1.2 0.25 Uncertain significance 0 -133855 Simple 587778176 C . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.2 0.0 Uncertain significance 0 -133875 Simple 587778186 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -0.54 1.5 Uncertain significance 0 -133877 Simple 587778188 A . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-04-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -133886 Simple 201084748 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -0.8999999999999999 0.0 Uncertain significance 0 -133887 Simple 536907995 A . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-05 18.0 0.75 Pathogenic 1 -133888 Simple 371657037 T . Uncertain significance 2 7 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer 2017-06-15 -2.1 0.42857142857142855 Uncertain significance 0 -133889 Simple 587778193 C . Uncertain significance 2 2 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.5 Uncertain significance 0 -133890 Simple 143611747 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -1.2 0.25 Uncertain significance 0 -133892 Simple 17886163 C . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -28.8 1.8333333333333333 Benign 1 -133930 Simple 55790011 C . Likely benign 2 2 not specified;not provided 2017-03-03 -4.8 3.0 Likely benign 0 -133962 Simple 117358479 C . Benign/Likely benign 2 4 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 -15.0 0.5 Benign/Likely benign 0 -133967 Simple 149242330 T . Benign/Likely benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -12.0 0.3333333333333333 Benign/Likely benign 0 -133968 Simple 587778228 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.0 Uncertain significance 0 -133970 Simple 150514959 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.0 Uncertain significance 0 -133973 Simple 587778231 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.0 Uncertain significance 0 -133974 Simple 144259142 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.0 Uncertain significance 0 -133976 Simple 587778233 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.0 Uncertain significance 0 -133979 Simple 3745674 T . Benign/Likely benign 2 4 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-06-15 -18.0 0.75 Benign/Likely benign 0 -133982 Simple 143730975 G . Benign/Likely benign 2 2 not specified;not provided;Tatton-Brown-rahman syndrome 2017-04-18 -9.0 0.5 Benign/Likely benign 0 -134021 Simple 2227983 A . Benign/Likely benign 2 1 Lung cancer;not specified 2016-06-14 . 1.0 . 0 -134035 Simple 61756764 G . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2;not specified 2017-04-02 -13.2 1.6666666666666667 Benign/Likely benign 0 -134039 Simple 148884710 A . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;not specified;not provided 2017-01-26 -14.4 1.3333333333333333 Benign/Likely benign 0 -134040 Simple 145714752 C . Benign/Likely benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -134043 Simple 142030651 A . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -134046 Simple 2230111 G . Likely benign 2 3 Rubinstein-Taybi syndrome;not specified 2016-06-14 -7.8 2.3333333333333335 Likely benign 0 -134049 Simple 188035979 G . Likely benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -4.8 3.0 Likely benign 0 -134105 Simple 13181 G . Benign 2 2 Osteosarcoma;Xeroderma pigmentosum;Non-small cell lung cancer;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -134117 Simple 1799793 T . Benign 2 2 Xeroderma pigmentosum;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -134134 Simple 2020955 C . Benign/Likely benign 2 2 Xeroderma pigmentosum, group F;Cockayne syndrome;Xeroderma pigmentosum;not specified;Fanconi anemia, complementation group Q 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -134135 Simple 2020957 G . Benign/Likely benign 2 3 Xeroderma pigmentosum, group F;Cockayne syndrome;not specified;not provided;Fanconi anemia, complementation group Q 2017-06-19 -11.7 0.6666666666666666 Benign/Likely benign 0 -134142 Simple 1800069 C . Uncertain significance 2 2 Xeroderma pigmentosum, group F;Cockayne syndrome;not specified;Fanconi anemia, complementation group Q 2017-05-30 -0.6 0.5 Uncertain significance 0 -134153 Simple 41552412 G . Uncertain significance 2 2 Xeroderma pigmentosum, group F;Cockayne syndrome;Xeroderma pigmentosum;not specified;Fanconi anemia, complementation group Q 2017-05-11 -0.6 0.5 Uncertain significance 0 -134155 Simple 1800067 A . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -134207 Simple 4755779 G . Benign/Likely benign 2 2 not specified;not provided;Hereditary Multiple Osteochondromatosis 2017-05-04 -9.0 0.5 Benign/Likely benign 0 -134212 Simple 139525250 T . Benign/Likely benign 2 2 not specified;Hereditary Multiple Osteochondromatosis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -134215 Simple 141035971 T . Uncertain significance 2 2 not specified;Hereditary Multiple Osteochondromatosis 2017-04-13 -0.6 0.5 Uncertain significance 0 -134224 Simple 2302427 G . Benign 2 4 Weaver syndrome;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -134236 Simple 76275444 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -134237 Simple 1800282 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-01-06 -9.0 1.0 Benign/Likely benign 0 -134238 Simple 13336566 C . Likely benign 2 2 Fanconi anemia;not specified 2017-04-16 -6.0 0.5 Likely benign 0 -134242 Simple 11646374 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -134244 Simple 2239359 T . Benign 2 3 Fanconi anemia;not specified 2016-09-01 -18.0 1.0 Benign/Likely benign 1 -134247 Simple 17232910 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -134252 Simple 1131660 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -134253 Simple 45441106 A . Benign/Likely benign 2 1 Fanconi anemia;not specified 2017-06-16 . 0.0 . 0 -134254 Simple 7195066 T . Benign 2 2 Fanconi anemia;not specified 2016-09-13 -12.0 1.0 Benign/Likely benign 1 -134275 Simple 17227354 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -134278 Simple 9282681 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -134281 Simple 17227396 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-09-01 -9.0 1.0 Benign/Likely benign 0 -134283 Simple 370507983 T . Likely benign 2 2 Fanconi anemia;not specified 2017-07-11 -5.7 1.0 Likely benign 0 -134287 Simple 17232246 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -134289 Simple 144420697 A . Benign 2 1 Fanconi anemia;not specified 2017-06-16 . 0.0 . 0 -134293 Simple 17225943 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -134294 Simple 7190823 C . Benign 2 2 Fanconi anemia;not specified 2016-09-13 -12.0 1.0 Benign/Likely benign 1 -134297 Simple 1800368 C . Benign/Likely benign 2 4 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-11-29 -15.9 1.5 Benign/Likely benign 0 -134298 Simple 1800367 T . Benign/Likely benign 2 4 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -21.0 0.75 Benign/Likely benign 0 -134301 Simple 1800361 A . Benign/Likely benign 2 8 Fanconi anemia;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-23 -32.1 1.375 Benign 1 -134304 Simple 1800362 T . Benign/Likely benign 2 5 Fanconi anemia;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 -22.2 1.4 Benign/Likely benign 0 -134310 Simple 35625434 A . Benign/Likely benign 2 2 Fanconi anemia;not specified;not provided 2017-02-13 -9.0 1.0 Benign/Likely benign 0 -134311 Simple 35782247 G . Benign/Likely benign 2 4 Fanconi anemia;not specified;not provided 2017-06-05 -21.0 0.5 Benign/Likely benign 0 -134312 Simple 145522204 G . Benign/Likely benign 2 3 Fanconi anemia;not specified;not provided 2017-05-22 -9.0 0.6666666666666666 Benign/Likely benign 0 -134314 Simple 36070315 C . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-06-05 -15.0 0.3333333333333333 Benign/Likely benign 0 -134315 Simple 3864017 T . Benign 2 2 Fanconi anemia;not specified 2016-10-10 -12.0 1.0 Benign/Likely benign 1 -134318 Simple 35495399 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -134327 Simple 35173688 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-06-05 -9.0 0.5 Benign/Likely benign 0 -134328 Simple 34936017 G . Benign/Likely benign 2 3 Fanconi anemia;not specified;not provided 2017-08-03 -14.4 1.0 Benign/Likely benign 0 -134330 Simple 587778335 A . Uncertain significance 2 3 Fanconi anemia;Fanconi anemia, complementation group E;not specified 2017-06-30 -0.87 1.0 Uncertain significance 0 -134333 Simple 7761870 T . Benign/Likely benign 2 2 Fanconi anemia;Fanconi anemia, complementation group E;not specified 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -134334 Simple 45600543 T . Benign/Likely benign 2 2 Fanconi anemia, complementation group E;not specified 2017-06-26 -9.0 0.0 Benign/Likely benign 0 -134340 Simple 45524646 C . Uncertain significance 2 2 Fanconi anemia;Fanconi anemia, complementation group E;not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -134345 Simple 9462088 A . Benign 2 2 Fanconi anemia;not specified 2016-10-06 -12.0 1.0 Benign/Likely benign 1 -134348 Simple 61753271 C . Uncertain significance 2 4 Fanconi anemia;not specified;not provided 2017-04-28 -1.2 0.75 Uncertain significance 0 -134351 Simple 45451294 A . Benign 2 1 Fanconi anemia;not specified 2017-08-07 . 0.0 . 0 -134358 Simple 35984312 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-02 -8.7 1.0 Benign/Likely benign 0 -134361 Simple 17885240 T . Benign/Likely benign 2 4 Fanconi anemia;not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-08-01 -18.0 0.75 Benign/Likely benign 0 -134366 Simple 61757385 A . Benign/Likely benign 2 3 Fanconi anemia;not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-08-08 -12.0 0.6666666666666666 Benign/Likely benign 0 -134367 Simple 2237857 A . Benign/Likely benign 2 6 Fanconi anemia;not specified;not provided;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-07-31 -27.0 0.5 Benign 1 -134370 Simple 4986939 A . Benign/Likely benign 2 4 Fanconi anemia;not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-08-14 -15.0 0.75 Benign/Likely benign 0 -134371 Simple 3218619 A . Benign 2 2 Autoimmune lymphoproliferative syndrome;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -134372 Simple 3218614 T . Benign/Likely benign 2 2 Autoimmune lymphoproliferative syndrome;not specified 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -134386 Simple 3750819 G . Benign 2 11 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;Craniosynostosis;FGFR2 related craniosynostosis 2017-04-04 -64.8 1.0909090909090908 Benign 0 -134390 Simple 56226109 A . Benign/Likely benign 2 12 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;not provided;Craniosynostosis;FGFR2 related craniosynostosis 2017-04-20 -41.4 1.0 Benign 1 -134392 Simple 755793 G . Benign 2 5 Crouzon syndrome;not specified;not provided;FGFR2 related craniosynostosis 2017-08-03 -29.4 1.0 Benign 0 -134398 Simple 61735064 A . Benign/Likely benign 2 2 not specified;Craniosynostosis 2017-05-04 -5.7 1.0 Likely benign 1 -134404 Simple 17881656 C . Benign/Likely benign 2 5 not specified;not provided;Craniosynostosis 2017-04-24 -27.0 0.8 Benign 1 -134408 Simple 17882190 A . Likely benign 2 2 not specified;not provided;Craniosynostosis 2016-09-01 -6.0 1.0 Likely benign 0 -134409 Simple 61735104 T . Benign/Likely benign 2 5 not specified;not provided;Craniosynostosis 2017-02-08 -23.4 1.2 Benign/Likely benign 0 -134410 Simple 56240927 T . Benign 2 2 not specified 2016-08-01 -11.4 1.5 Benign/Likely benign 1 -134413 Simple 201887750 A . Benign/Likely benign 2 6 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-08-08 -24.0 1.6666666666666667 Benign 1 -134415 Simple 187226800 A . Benign/Likely benign 2 6 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-09-30 -25.8 1.0 Benign 1 -134417 Simple 587778362 C . Uncertain significance 2 2 Fumarase deficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -0.6 0.5 Uncertain significance 0 -134418 Simple 147528200 T . Uncertain significance 2 2 Fumarase deficiency;not specified;Hereditary cancer-predisposing syndrome 2017-11-30 -0.6 0.0 Uncertain significance 0 -134423 Simple 556510460 C . Uncertain significance 2 2 Multiple fibrofolliculomas;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -134432 Simple 190786280 T . Uncertain significance 2 2 Multiple fibrofolliculomas;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -0.6 0.5 Uncertain significance 0 -134465 Simple 34799090 C . Benign/Likely benign 2 3 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-08-16 -15.0 0.6666666666666666 Benign/Likely benign 0 -134466 Simple 78245253 C . Benign/Likely benign 2 2 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -134467 Simple 2335052 T . Benign/Likely benign 2 2 Lymphedema, primary, with myelodysplasia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -134501 Simple 11539789 T . Benign/Likely benign 2 4 Wilms tumor 1;not specified;not provided 2017-08-07 -14.7 0.75 Benign/Likely benign 0 -134530 Simple 6897932 T . Benign 2 2 not specified;Severe Combined Immune Deficiency 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -134533 Simple 3194051 G . Benign 2 2 not specified;Severe Combined Immune Deficiency 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -134536 Simple 2229232 T . Benign/Likely benign 2 3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified;Severe Combined Immune Deficiency 2017-06-16 -15.0 0.6666666666666666 Benign/Likely benign 0 -134597 Simple 2230018 A . Benign 2 2 not specified 2015-09-29 -9.600000000000001 3.0 Benign/Likely benign 1 -134643 Simple 115574135 T . Benign/Likely benign 2 3 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -134645 Simple 146651797 C . Benign/Likely benign 2 3 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -11.7 0.6666666666666666 Benign/Likely benign 0 -134648 Simple 587778443 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.54 1.5 Uncertain significance 0 -134651 Simple 45578433 A . Benign/Likely benign 2 3 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -12.0 0.6666666666666666 Benign/Likely benign 0 -134652 Simple 200218511 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.54 1.5 Uncertain significance 0 -134654 Simple 45602940 T . Uncertain significance 2 3 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -0.87 1.0 Uncertain significance 0 -134657 Simple 587778447 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-27 -0.6 1.0 Uncertain significance 0 -134658 Simple 375853155 G . Uncertain significance 2 5 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-11 -1.47 0.4 Uncertain significance 0 -134661 Simple 587778449 . . Benign 2 3 not specified;not provided 2017-05-30 -18.0 0.6666666666666666 Benign/Likely benign 1 -134664 Simple 202076833 T . Benign/Likely benign 2 4 not specified;not provided;Kabuki syndrome 2016-06-14 -15.600000000000001 2.5 Benign/Likely benign 0 -134673 Simple 112236653 A . Benign/Likely benign 2 4 not specified;not provided;Kabuki syndrome 2017-04-27 -14.7 0.75 Benign/Likely benign 0 -134693 Simple 374216845 T . Uncertain significance 2 2 not specified;Kabuki syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -134695 Simple 200578414 T . Benign/Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -7.2 2.5 Likely benign 1 -134696 Simple 587778466 T . Uncertain significance 2 2 not specified;not provided 2016-11-02 -0.6 1.0 Uncertain significance 0 -134710 Simple 201283589 A . Uncertain significance 2 2 not specified 2016-09-05 -0.6 1.0 Uncertain significance 0 -134717 Simple 73302195 T . Benign/Likely benign 2 4 not specified;Kabuki syndrome 2017-07-27 -18.0 2.0 Benign/Likely benign 0 -134825 Simple 12731981 A . Benign/Likely benign 2 2 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;not specified 2017-06-07 -9.0 0.5 Benign/Likely benign 0 -134827 Simple 16830693 G . Benign 2 3 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;not specified 2017-07-28 -18.0 0.6666666666666666 Benign/Likely benign 1 -134835 Simple 149265851 A . Benign/Likely benign 2 2 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -134838 Simple 190983971 G . Benign/Likely benign 2 3 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;not specified 2016-09-21 -12.0 1.0 Benign/Likely benign 0 -134840 Simple 587778521 T . Uncertain significance 2 7 Lynch syndrome I;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-19 -2.07 0.7142857142857143 Uncertain significance 0 -134842 Simple 587778524 C . Uncertain significance 2 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-09 -0.6 1.0 Uncertain significance 0 -134846 Simple 150548839 C . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-18 -1.5 0.4 Uncertain significance 0 -134848 Simple 587778528 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-28 -0.6 0.5 Uncertain significance 0 -134852 Simple 376220212 A . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-03 -1.5 0.4 Uncertain significance 0 -134855 Simple 376452612 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-23 -1.2 0.5 Uncertain significance 0 -134856 Simple 202066386 C . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-06 -1.5 0.2 Uncertain significance 0 -134857 Simple 587778534 G . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -0.87 0.6666666666666666 Uncertain significance 0 -134860 Simple 587778536 - . Pathogenic 2 7 MYH-associated polyposis;Carcinoma of colon;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-24 40.2 0.8571428571428571 Pathogenic 0 -134861 Simple 587778537 T . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -134862 Simple 587778538 A . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -134864 Simple 587778540 A . Uncertain significance 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.77 1.0 Uncertain significance 0 -134866 Simple 3219494 T . Uncertain significance 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -134872 Simple 3026268 C . Benign/Likely benign 2 7 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -31.5 2.0 Benign 1 -134873 Simple 148205441 A . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -1.2 0.0 Uncertain significance 0 -134876 Simple 1805794 G . Benign 2 7 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -39.0 1.4285714285714286 Benign 0 -134878 Simple 769420 A . Benign 2 6 Microcephaly, normal intelligence and immunodeficiency;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-15 -31.8 2.0 Benign 0 -134879 Simple 587778548 A . Uncertain significance 2 2 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2016-12-02 -0.5700000000000001 1.5 Uncertain significance 0 -134880 Simple 146051850 G . Benign/Likely benign 2 7 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -26.4 1.0 Benign 1 -134881 Simple 145891889 T . Benign/Likely benign 2 4 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -17.1 1.0 Benign/Likely benign 0 -134883 Simple 370789267 A . Uncertain significance 2 2 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -134886 Simple 377481833 G . Likely benign 2 2 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -5.7 1.0 Likely benign 0 -134889 Simple 2230850 C . Benign/Likely benign 2 5 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -17.7 1.0 Benign/Likely benign 0 -134891 Simple 368149035 A . Uncertain significance 2 2 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-11 -0.5700000000000001 1.5 Uncertain significance 0 -134894 Simple 141538143 C . Likely benign 2 2 Neurofibromatosis, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -6.0 0.0 Likely benign 0 -134896 Simple 201911915 A . Likely benign 2 2 Neurofibromatosis, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.0 Likely benign 0 -134910 Simple 138504021 T . Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -134911 Simple 79782048 T . Likely benign 2 3 not specified;Adams-Oliver syndrome 5 2017-08-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -134923 Simple 114832250 A . Benign/Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-12 -14.4 1.0 Benign/Likely benign 0 -134930 Simple 61751543 T . Benign 2 3 not specified;Adams-Oliver syndrome 5 2017-08-07 -17.4 1.0 Benign/Likely benign 1 -134932 Simple 183156491 A . Likely benign 2 4 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-24 -11.7 0.75 Benign/Likely benign 1 -134934 Simple 61751542 A . Benign 2 3 not specified;Adams-Oliver syndrome 5 2017-08-04 -17.4 1.0 Benign/Likely benign 1 -134939 Simple 76371972 T . Benign 2 4 not specified;not provided;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-31 -23.4 1.0 Benign/Likely benign 1 -134942 Simple 199654211 C . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-08-03 -6.0 0.0 Likely benign 0 -134944 Simple 187473846 A . Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-06-15 -9.0 0.3333333333333333 Benign/Likely benign 1 -134951 Simple 201613894 T . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-03-03 -0.6 1.0 Uncertain significance 0 -134954 Simple 61751489 T . Benign 2 3 not specified;Adams-Oliver syndrome 5 2017-08-12 -17.4 1.0 Benign/Likely benign 1 -134957 Simple 111309246 T . Benign 2 2 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-06-11 -11.4 1.0 Benign/Likely benign 1 -134959 Simple 150737112 T . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-06-20 -0.6 0.5 Uncertain significance 0 -134963 Simple 35656321 A . Benign 2 2 not specified;not provided 2017-06-19 -12.0 0.5 Benign/Likely benign 1 -134967 Simple 147223770 C . Benign/Likely benign 2 2 not specified;not provided 2017-09-06 -8.4 1.0 Benign/Likely benign 0 -134972 Simple 61752484 C . Benign 2 2 Hajdu-Cheney syndrome;not specified 2017-04-23 -10.8 1.5 Benign/Likely benign 1 -134975 Simple 41313282 T . Benign/Likely benign 2 4 Hajdu-Cheney syndrome;not specified;not provided 2017-08-22 -17.1 1.0 Benign/Likely benign 0 -134985 Simple 150516342 T . Likely benign 2 2 not specified;not provided 2017-08-10 -5.7 1.0 Likely benign 0 -134992 Simple 587778582 AT . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -1.2 0.5 Uncertain significance 0 -134993 Simple 587778583 - . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -134994 Simple 587778584 - . Pathogenic 2 2 not specified;not provided;Hereditary cancer-predisposing syndrome 2015-04-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -134995 Simple 587778585 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.17 0.5 Uncertain significance 0 -135026 Simple 541057765 G . Uncertain significance 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified 2017-06-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -135028 Simple 61735622 C . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified 2017-08-15 -12.0 0.6666666666666666 Benign/Likely benign 0 -135039 Simple 3730089 A . Benign/Likely benign 2 3 not specified 2016-10-04 -14.1 2.0 Benign/Likely benign 0 -135062 Simple 587778615 GA . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -135064 Simple 587778616 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-02 -0.54 2.0 Uncertain significance 0 -135065 Simple 2228006 C . Benign 2 2 Hereditary nonpolyposis colorectal cancer type 4;not specified 2017-08-18 -12.0 0.5 Benign/Likely benign 1 -135067 Simple 587778618 A . Pathogenic 2 4 not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 24.0 0.25 Pathogenic 0 -135070 Simple 587778620 T . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -0.87 1.0 Uncertain significance 0 -135095 Simple 2227971 A . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -18.6 1.75 Benign/Likely benign 0 -135099 Simple 147025073 T . Uncertain significance 2 2 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-28 -0.6 0.0 Uncertain significance 0 -135100 Simple 2236405 A . Benign/Likely benign 2 7 Gorlin syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2016-07-22 -28.8 2.0 Benign 1 -135101 Simple 560967532 T . Uncertain significance 2 2 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.0 Uncertain significance 0 -135102 Simple 150850039 T . Likely benign 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -9.0 0.0 Benign/Likely benign 1 -135112 Simple 587778635 G . Benign 3 5 Metachondromatosis;Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy 2017-04-18 -7.71 1.4 Likely benign 2 -135118 Simple 4151539 G . Benign/Likely benign 2 4 Retinoblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-06 -19.8 1.25 Benign/Likely benign 0 -135125 Simple 183898408 T . Benign/Likely benign 2 3 Retinoblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -12.0 0.3333333333333333 Benign/Likely benign 0 -135128 Simple 61759892 A . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2017-10-30 -0.6 0.0 Uncertain significance 0 -135131 Simple 2721191 A . Benign 2 2 Baller-Gerold syndrome;not specified 2017-08-15 -10.8 1.5 Benign/Likely benign 1 -135138 Simple 34293591 T . Benign 2 1 Baller-Gerold syndrome;not specified 2017-08-15 . 0.0 . 0 -135140 Simple 548804317 - . Benign 2 2 Baller-Gerold syndrome;not specified;not provided 2017-07-27 -12.0 0.5 Benign/Likely benign 1 -135146 Simple 114149451 T . Benign 2 2 Baller-Gerold syndrome;not specified 2017-08-09 -12.0 0.5 Benign/Likely benign 1 -135148 Simple 35348691 T . Benign 2 2 Baller-Gerold syndrome;not specified 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -135151 Simple 36078464 T . Benign/Likely benign 2 2 Baller-Gerold syndrome;not specified 2017-08-04 -10.8 1.5 Benign/Likely benign 0 -135152 Simple 35101495 G . Benign 2 2 Baller-Gerold syndrome;not specified 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -135153 Simple 35346077 A . Benign/Likely benign 2 2 Baller-Gerold syndrome;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -135154 Simple 61755066 G . Benign/Likely benign 2 2 Baller-Gerold syndrome;not specified 2017-08-07 -11.4 1.0 Benign/Likely benign 0 -135157 Simple 35198096 C . Benign/Likely benign 2 3 Baller-Gerold syndrome;not specified;not provided 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -135158 Simple 34642881 C . Benign 2 2 Baller-Gerold syndrome;not specified 2017-08-10 -12.0 0.5 Benign/Likely benign 1 -135164 Simple 146709578 A . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -135165 Simple 199773279 A . Benign 2 2 Baller-Gerold syndrome;not specified 2017-06-21 -11.4 1.0 Benign/Likely benign 1 -135170 Simple 376045624 T . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2016-12-04 -0.54 2.0 Uncertain significance 0 -135173 Simple 35407712 A . Benign 2 3 Baller-Gerold syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -16.2 1.6666666666666667 Benign/Likely benign 1 -135177 Simple 181856591 T . Uncertain significance 2 5 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia 2017-08-25 -1.38 1.4 Uncertain significance 0 -135178 Simple 587778656 C . Uncertain significance 2 5 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-19 -1.47 0.8 Uncertain significance 0 -135180 Simple 587778658 T . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified 2017-07-20 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -135181 Simple 587778659 G . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified 2017-02-15 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -135183 Simple 201244749 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.5 Uncertain significance 0 -135187 Simple 115423919 C . Benign/Likely benign 2 9 Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-08-03 -33.0 1.5555555555555556 Benign 1 -135188 Simple 138624658 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hirschsprung disease;not specified 2016-10-24 -0.54 2.0 Uncertain significance 0 -135190 Simple 9282834 A . Benign/Likely benign 2 3 Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome;Hirschsprung Disease, Dominant 2017-08-22 -13.8 1.3333333333333333 Benign/Likely benign 0 -135191 Simple 545625150 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -0.54 1.5 Uncertain significance 0 -135192 Simple 35962811 C . Benign/Likely benign 2 6 Cowden syndrome 2;Gastrointestinal stromal tumor;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4;Pheochromocytoma;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 -23.4 0.8333333333333334 Benign/Likely benign 0 -135193 Simple 200973284 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-07 -0.5700000000000001 1.5 Uncertain significance 0 -135197 Simple 142135772 G . Uncertain significance 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;not specified;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-08-14 -0.6 0.5 Uncertain significance 0 -135221 Simple 75248784 A . Benign/Likely benign 2 2 not specified;not provided;Luscan-lumish syndrome 2017-07-17 -9.0 0.0 Benign/Likely benign 0 -135230 Simple 58906143 G . Benign 2 2 not specified;Luscan-lumish syndrome 2017-08-12 -12.0 0.0 Benign/Likely benign 1 -135245 Simple 377119288 G . Uncertain significance 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.77 0.5 Uncertain significance 0 -135251 Simple 200664441 T . Benign/Likely benign 2 5 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-11-07 -23.4 0.8 Benign/Likely benign 0 -135252 Simple 587778683 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.5 Uncertain significance 0 -135253 Simple 587778684 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-11-07 -0.6 0.0 Uncertain significance 0 -135254 Simple 587778685 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.0 Uncertain significance 0 -135255 Simple 587778686 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -135256 Simple 200469979 G . Uncertain significance 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -135282 Simple 34135067 T . Benign/Likely benign 2 4 Gorlin syndrome;Medulloblastoma;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-20 -18.0 0.5 Benign/Likely benign 0 -135283 Simple 368178771 G . Uncertain significance 2 2 Gorlin syndrome;Medulloblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.0 Uncertain significance 0 -135285 Simple 79299301 A . Uncertain significance 2 3 Gorlin syndrome;Medulloblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -135359 Simple 587778720 T . Pathogenic/Likely pathogenic 2 4 Liver cancer;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Li-Fraumeni syndrome 1;Adenocarcinoma of lung;Kidney cancer;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;not specified;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Adenoid cystic carcinoma;Nasopharyngeal Neoplasms;Adrenocortical carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-08-23 22.8 1.0 Pathogenic 1 -135366 Simple 587778724 AT . Uncertain significance 2 2 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-06 -0.6 1.0 Uncertain significance 0 -135374 Simple 562945619 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-02-03 -0.6 1.0 Uncertain significance 0 -135375 Simple 201835391 G . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-12 -5.7 1.0 Likely benign 0 -135385 Simple 148527903 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-19 -14.7 0.75 Benign/Likely benign 0 -135390 Simple 201694466 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-27 -0.6 0.5 Uncertain significance 0 -135392 Simple 2234919 A . Benign/Likely benign 2 2 Congenital hypothyroidism;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -135400 Simple 1991517 C . Benign/Likely benign 2 2 Hyperthyroidism, nonautoimmune;Congenital hypothyroidism;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -135406 Simple 578091032 A . Uncertain significance 2 4 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.17 1.0 Uncertain significance 0 -135410 Simple 2737799 C . Benign/Likely benign 2 3 not specified;not provided 2017-02-17 -14.4 1.3333333333333333 Benign/Likely benign 0 -135411 Simple 143885622 T . Benign/Likely benign 2 3 Severe congenital neutropenia X-linked;Thrombocytopenia, X-linked;Wiskott-Aldrich syndrome;not specified;not provided 2017-07-25 -13.8 1.3333333333333333 Benign/Likely benign 0 -135413 Simple 146220228 A . Benign/Likely benign 2 2 Severe congenital neutropenia X-linked;Thrombocytopenia, X-linked;Wiskott-Aldrich syndrome;not specified;not provided 2017-06-26 -9.0 0.0 Benign/Likely benign 0 -135421 Simple 148286708 T . Uncertain significance 2 2 Werner syndrome;not specified 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -135425 Simple 146443310 A . Benign/Likely benign 2 2 Werner syndrome;not specified 2017-08-04 -8.4 1.0 Benign/Likely benign 0 -135437 Simple 142614369 A . Uncertain significance 2 2 Werner syndrome;not specified 2017-08-02 -0.6 0.5 Uncertain significance 0 -135443 Simple 11574410 T . Benign 2 2 Werner syndrome;not specified 2017-08-01 -10.8 1.5 Benign/Likely benign 1 -135448 Simple 148229804 G . Benign/Likely benign 2 2 Werner syndrome;not specified 2017-07-13 -8.7 1.0 Benign/Likely benign 0 -135449 Simple 1800390 G . Benign/Likely benign 2 2 Werner syndrome;not specified 2017-08-08 -8.4 1.5 Benign/Likely benign 0 -135453 Simple 2234584 A . Uncertain significance 2 2 Drash syndrome;Frasier syndrome;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WAGR syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -135455 Simple 147241955 T . Uncertain significance 2 2 Drash syndrome;Frasier syndrome;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WAGR syndrome 2017-07-11 -0.6 0.5 Uncertain significance 0 -135465 Simple 1870134 C . Benign 2 2 Xeroderma pigmentosum;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -135469 Simple 2227998 T . Benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -135476 Simple 2228002 T . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -135485 Simple 2228000 A . Benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -135513 Simple 116247322 A . Benign/Likely benign 2 1 not specified 2016-10-14 . 1.0 . 0 -135564 Simple 41269541 T . Benign/Likely benign 2 4 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;not specified 2016-06-14 -14.7 1.25 Benign/Likely benign 0 -135651 Simple 587780586 A . Pathogenic/Likely pathogenic 2 2 Early infantile epileptic encephalopathy 13;not provided 2017-02-24 7.8 3.0 Likely pathogenic 1 -135677 Simple 200170681 A . Uncertain significance 2 2 Long QT syndrome;not specified;not provided 2017-06-15 -0.6 0.0 Uncertain significance 0 -135684 Simple 9282599 T . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-02 -20.4 1.2 Benign/Likely benign 0 -135685 Simple 546568052 A . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-01 -22.8 1.2 Benign/Likely benign 0 -135686 Simple 72541808 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-31 -8.7 1.0 Benign/Likely benign 1 -135687 Simple 148987776 G . Benign/Likely benign 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -24.9 1.8333333333333333 Benign 1 -135689 Simple 587780591 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-15 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -135691 Simple 569640184 T . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -17.7 0.75 Benign/Likely benign 0 -135692 Simple 587780592 A . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.5 0.6 Uncertain significance 0 -135693 Simple 200184105 T . Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -14.4 1.0 Benign/Likely benign 1 -135694 Simple 587780593 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-23 -1.2 0.5 Uncertain significance 0 -135698 Simple 145181563 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -135700 Simple 144655979 A . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -8.4 1.3333333333333333 Benign/Likely benign 1 -135701 Simple 200166878 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -1.2 0.25 Uncertain significance 0 -135704 Simple 137988845 A . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-18 -27.3 1.5714285714285714 Benign 1 -135707 Simple 587780598 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-10-11 -0.6 0.0 Uncertain significance 0 -135709 Simple 587780600 T . Uncertain significance 2 8 Familial multiple polyposis syndrome;Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -2.34 0.75 Uncertain significance 0 -135710 Simple 587780601 A . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -11.4 1.25 Benign/Likely benign 1 -135711 Simple 187297940 T . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -16.8 1.4 Benign/Likely benign 0 -135714 Simple 372680843 G . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -15.9 1.8 Benign/Likely benign 0 -135715 Simple 555799753 T . Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -14.7 0.6 Benign/Likely benign 1 -135716 Simple 146048493 G . Benign/Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;Colorectal adenoma 2017-10-25 -12.0 0.3333333333333333 Benign/Likely benign 0 -135717 Simple 587780603 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-26 -8.7 1.0 Benign/Likely benign 1 -135718 Simple 587780604 C . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -9.0 0.6666666666666666 Benign/Likely benign 1 -135719 Simple 151163793 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -1.5 0.4 Uncertain significance 0 -135720 Simple 147704593 T . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -18.3 2.0 Benign/Likely benign 0 -135723 Simple 587780606 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.87 1.0 Uncertain significance 0 -135725 Simple 587780607 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-10 -0.8999999999999999 1.0 Uncertain significance 0 -135726 Simple 587780608 G . Conflicting interpretations of pathogenicity 1 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-08-24 -1.17 0.75 Uncertain significance 0 -135729 Simple 587780611 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.0 Uncertain significance 0 -135730 Simple 546927781 A . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -11.1 1.25 Benign/Likely benign 1 -135731 Simple 587780612 - . Pathogenic/Likely pathogenic 2 6 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-22 31.2 1.3333333333333333 Pathogenic 1 -135733 Simple 1800054 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -0.87 1.0 Uncertain significance 0 -135736 Simple 587780615 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-22 -0.51 2.0 Uncertain significance 0 -135737 Simple 55674039 T . Benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -15.600000000000001 2.0 Benign/Likely benign 1 -135738 Simple 587780616 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-08 -8.7 1.0 Benign/Likely benign 1 -135739 Simple 528165789 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -0.87 1.0 Uncertain significance 0 -135740 Simple 1800055 C . Benign/Likely benign 2 6 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -18.3 1.5 Benign/Likely benign 0 -135741 Simple 540920248 G . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -12.9 2.0 Benign/Likely benign 0 -135744 Simple 2235011 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -0.8999999999999999 0.0 Uncertain significance 0 -135745 Simple 587780618 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -8.1 1.6666666666666667 Likely benign 0 -135746 Simple 55934812 C . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -12.3 2.25 Benign/Likely benign 0 -135747 Simple 587780619 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-24 -0.5700000000000001 1.0 Uncertain significance 0 -135748 Simple 3092859 C . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -11.1 1.6666666666666667 Benign/Likely benign 0 -135750 Simple 587780621 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -8.1 1.6666666666666667 Likely benign 0 -135751 Simple 138393322 A . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -17.4 2.5 Benign/Likely benign 0 -135752 Simple 587780622 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -8.4 1.3333333333333333 Benign/Likely benign 1 -135757 Simple 56354559 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -0.8999999999999999 0.0 Uncertain significance 0 -135758 Simple 144338238 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -12.3 2.25 Benign/Likely benign 0 -135761 Simple 587780628 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-10 -1.2 0.5 Uncertain significance 0 -135763 Simple 587780630 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -8.4 1.3333333333333333 Benign/Likely benign 1 -135764 Simple 144709948 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -18.6 2.0 Benign/Likely benign 0 -135766 Simple 587780631 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -1.1400000000000001 1.25 Uncertain significance 0 -135767 Simple 587780632 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -1.2 0.0 Uncertain significance 0 -135768 Simple 587780633 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -135769 Simple 55756349 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -11.4 1.25 Benign/Likely benign 1 -135770 Simple 587780634 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -1.2 0.0 Uncertain significance 0 -135771 Simple 587780635 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.2 0.25 Uncertain significance 0 -135773 Simple 587780637 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-20 -8.4 1.0 Benign/Likely benign 1 -135777 Simple 34838175 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -11.4 0.75 Benign/Likely benign 1 -135778 Simple 587780639 A . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-03 19.8 1.0 Pathogenic 1 -135780 Simple 371638537 T . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-26 25.5 1.2 Pathogenic 1 -135782 Simple 56025670 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -12.3 2.25 Benign/Likely benign 0 -135785 Simple 551041839 G . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -16.5 1.75 Benign/Likely benign 0 -135788 Simple 587780645 AA . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-14 15.0 0.75 Pathogenic 1 -135790 Simple 147854265 A . Likely benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -26.7 1.75 Benign 2 -135793 Simple 587780647 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -135794 Simple 587780648 A . Likely benign 3 10 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -25.2 1.9 Benign 2 -135795 Simple 587780649 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -135796 Simple 145625991 A . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -27.3 1.7142857142857142 Benign 2 -135797 Simple 587780650 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.0 Benign/Likely benign 1 -135802 Simple 587780654 G . Likely benign 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 . 0.0 . 0 -135803 Simple 199879914 G . Likely benign 3 7 Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -21.0 1.1428571428571428 Benign/Likely benign 1 -135805 Simple 587780656 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -135806 Simple 41293497 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.4 1.0 Benign/Likely benign 1 -135808 Simple 587780657 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-31 -0.6 1.0 Uncertain significance 0 -135810 Simple 587780658 A . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.7 0.7142857142857143 Benign/Likely benign 1 -135813 Simple 587780660 G . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.8 1.2857142857142858 Benign/Likely benign 1 -135814 Simple 143214959 A . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -27.9 1.2857142857142858 Benign 2 -135815 Simple 80358982 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -0.87 1.0 Uncertain significance 0 -135816 Simple 587780661 A . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -1.2 0.75 Uncertain significance 0 -135817 Simple 587780662 G . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -22.2 1.8571428571428572 Benign/Likely benign 1 -135819 Simple 587780664 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -135820 Simple 587780665 G . Likely benign 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 . 0.0 . 0 -135821 Simple 200210279 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.2 0.5 Uncertain significance 0 -135827 Simple 587780668 . . Pathogenic/Likely pathogenic, risk factor 2 4 Cutaneous malignant melanoma 2;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-10 15.0 0.25 Pathogenic 1 -135828 Simple 587780669 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -0.6 0.5 Uncertain significance 0 -135829 Simple 35590297 T . Benign/Likely benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -18.3 2.0 Benign/Likely benign 0 -135830 Simple 373726731 C . Uncertain significance 2 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -1.74 0.8333333333333334 Uncertain significance 0 -135832 Simple 35819209 C . Benign/Likely benign 2 6 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -18.3 1.8333333333333333 Benign/Likely benign 0 -135836 Simple 587780673 TT . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-12 -0.8999999999999999 0.0 Uncertain significance 0 -135837 Simple 587780674 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -0.6 0.5 Uncertain significance 0 -135838 Simple 587780675 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-19 -11.4 1.0 Benign/Likely benign 1 -135842 Simple 587780677 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-07 -1.2 0.75 Uncertain significance 0 -135844 Simple 137937003 G . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -16.5 1.75 Benign/Likely benign 0 -135847 Simple 587780679 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -135848 Simple 587780680 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -0.84 1.3333333333333333 Uncertain significance 0 -135853 Simple 369737664 C . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -15.9 2.0 Benign/Likely benign 0 -135854 Simple 587779102 A . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-27 -1.2 1.0 Uncertain significance 0 -135856 Simple 587780685 C . Uncertain significance 3 1 Lynch syndrome I;Lynch syndrome 2016-04-20 . 1.0 . 0 -135860 Simple 587780687 C . Uncertain significance 2 4 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -1.17 0.75 Uncertain significance 0 -135861 Simple 587780688 C . Uncertain significance 2 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.5 Uncertain significance 0 -135863 Simple 587780689 A . Uncertain significance 2 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-01 -0.6 1.0 Uncertain significance 0 -135864 Simple 146577635 G . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-15 -15.9 2.0 Benign/Likely benign 0 -135865 Simple 375351205 G . Uncertain significance 2 6 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-04 -1.7999999999999998 0.5 Uncertain significance 0 -135866 Simple 587780690 A . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-08-15 -9.0 0.0 Benign/Likely benign 0 -135869 Simple 368070922 G . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -6.0 0.0 Likely benign 0 -135870 Simple 148471237 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-09-14 -6.0 0.5 Likely benign 0 -135874 Simple 151216961 A . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-22 -9.0 0.0 Benign/Likely benign 0 -135882 Simple 201541845 T . Benign/Likely benign 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -17.4 1.0 Benign/Likely benign 0 -135884 Simple 142131559 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -6.0 0.0 Likely benign 0 -135885 Simple 587780699 C . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-04-24 -0.6 0.5 Uncertain significance 0 -135888 Simple 200347952 A . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -9.0 0.5 Benign/Likely benign 0 -135890 Simple 28446339 A . Benign/Likely benign 2 6 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-07-31 -26.7 0.8333333333333334 Benign 1 -135891 Simple 200435277 A . Benign/Likely benign 2 2 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -9.0 0.0 Benign/Likely benign 0 -135892 Simple 587780702 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -6.0 0.5 Likely benign 0 -135894 Simple 149691476 T . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -9.0 0.0 Benign/Likely benign 0 -135895 Simple 182045135 G . Benign/Likely benign 2 4 Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-06-22 -18.0 0.75 Benign/Likely benign 0 -135896 Simple 2236404 A . Benign/Likely benign 2 3 Gorlin syndrome;Holoprosencephaly 2017-07-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -135898 Simple 142148876 A . Benign/Likely benign 2 5 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-07-30 -20.4 0.8 Benign/Likely benign 0 -135903 Simple 587780707 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.0 Uncertain significance 0 -135904 Simple 150759973 G . Benign/Likely benign 2 2 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -9.0 0.0 Benign/Likely benign 0 -135905 Simple 587780708 A . Uncertain significance 2 2 Gorlin syndrome;not specified 2017-04-26 -0.6 0.5 Uncertain significance 0 -135907 Simple 374155092 T . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-08-17 -6.0 0.0 Likely benign 0 -135909 Simple 587780710 G . Likely benign 2 2 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -5.4 1.5 Likely benign 0 -135911 Simple 568851024 A . Benign/Likely benign 2 6 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-23 -19.5 1.5 Benign/Likely benign 0 -135913 Simple 587780713 G . Likely benign 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-08 -11.7 0.5 Benign/Likely benign 1 -135915 Simple 370207155 G . Benign/Likely benign 2 6 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -21.9 1.5 Benign/Likely benign 0 -135916 Simple 184271025 A . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -12.3 2.25 Benign/Likely benign 0 -135917 Simple 368466538 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast carcinoma 2017-08-27 -1.17 0.5 Uncertain significance 0 -135918 Simple 587780715 G . Uncertain significance 2 6 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -1.71 1.1666666666666667 Uncertain significance 0 -135919 Simple 587780716 G . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -0.84 1.3333333333333333 Uncertain significance 0 -135920 Simple 369764220 G . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -135921 Simple 587780717 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.5 Uncertain significance 0 -135923 Simple 587780719 T . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -11.1 1.5 Benign/Likely benign 1 -135924 Simple 373610101 T . Benign/Likely benign 2 6 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -24.6 1.5 Benign 1 -135925 Simple 587780720 A . Likely benign 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -9.0 0.6666666666666666 Benign/Likely benign 1 -135926 Simple 587780721 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-03 -1.2 0.75 Uncertain significance 0 -135927 Simple 533550278 C . Benign/Likely benign 2 6 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -19.8 1.3333333333333333 Benign/Likely benign 0 -135928 Simple 2075607 T . Likely benign 2 2 Peutz-Jeghers syndrome;not specified 2017-04-19 -5.7 1.0 Likely benign 0 -135929 Simple 376329042 A . Benign/Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -21.3 1.8 Benign/Likely benign 0 -135930 Simple 79175212 G . Benign/Likely benign 2 6 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -28.2 1.5 Benign 1 -135932 Simple 367774545 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-22 -11.4 1.25 Benign/Likely benign 1 -135933 Simple 138697590 C . Benign/Likely benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-05 -15.9 1.6 Benign/Likely benign 0 -135935 Simple 587780723 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -5.7 1.0 Likely benign 0 -135936 Simple 587780724 T . Pathogenic 2 2 Lynch syndrome;not provided 2016-12-13 10.8 2.0 Pathogenic/Likely pathogenic 1 -135938 Simple 542522853 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -8.1 1.6666666666666667 Likely benign 0 -135942 Simple 587780726 G . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-28 -8.4 1.3333333333333333 Benign/Likely benign 1 -135947 Simple 182246929 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-11 -1.2 0.25 Uncertain significance 0 -135948 Simple 587780728 G . Uncertain significance 2 4 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -1.2 0.75 Uncertain significance 0 -135950 Simple 370216745 G . Benign/Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -13.5 1.75 Benign/Likely benign 0 -135953 Simple 587780730 A . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome 2017-04-26 -0.6 0.5 Uncertain significance 0 -135956 Simple 587780732 G . Uncertain significance 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-05-05 -0.87 1.0 Uncertain significance 0 -135957 Simple 35763409 T . Benign/Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-03-14 -8.7 1.0 Benign/Likely benign 0 -135960 Simple 373312981 A . Uncertain significance 2 3 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -135963 Simple 45553236 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-02-29 -0.51 2.5 Uncertain significance 0 -135965 Simple 74994656 C . Benign/Likely benign 2 2 Renal cell carcinoma, papillary, 1;not specified 2017-07-18 -9.0 0.5 Benign/Likely benign 0 -135967 Simple 200865810 T . Benign/Likely benign 2 3 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-06 -11.7 1.0 Benign/Likely benign 0 -135969 Simple 376418811 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-10 -0.6 0.0 Uncertain significance 0 -135970 Simple 45575438 C . Benign/Likely benign 2 2 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -8.4 1.5 Benign/Likely benign 0 -135974 Simple 587780739 T . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-11-02 -0.6 0.0 Uncertain significance 0 -135978 Simple 35776110 T . Benign/Likely benign 2 4 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-10-06 -14.4 0.75 Benign/Likely benign 0 -135980 Simple 587780741 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-12-13 -0.87 1.3333333333333333 Uncertain significance 0 -135983 Simple 587780744 T . Uncertain significance 2 7 MYH-associated polyposis;Pilomatrixoma;Neoplasm of stomach;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -2.1 0.2857142857142857 Uncertain significance 0 -135985 Simple 375526246 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-08-20 -0.5700000000000001 1.5 Uncertain significance 0 -135986 Simple 587780746 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.0 Uncertain significance 0 -135987 Simple 587780747 A . Uncertain significance 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-16 -1.77 0.6666666666666666 Uncertain significance 0 -135988 Simple 587780748 A . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-02-13 -1.17 1.25 Uncertain significance 0 -135989 Simple 200165598 T . Uncertain significance 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.77 0.3333333333333333 Uncertain significance 0 -135991 Simple 587780750 A . Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2016-09-30 -11.100000000000001 1.75 Benign/Likely benign 1 -135992 Simple 587780751 G . Pathogenic 2 7 MYH-associated polyposis;Pilomatrixoma;not provided;Hereditary cancer-predisposing syndrome 2017-09-29 40.2 1.0 Pathogenic 0 -135993 Simple 587780752 A . Likely benign 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -14.4 1.0 Benign/Likely benign 1 -136000 Simple 114593924 C . Benign/Likely benign 2 3 Carcinoma of pancreas;not specified;Pancreatic adenocarcinoma 2017-07-27 -14.7 1.0 Benign/Likely benign 0 -136006 Simple 543821321 A . Benign/Likely benign 2 2 not specified;Pancreatic adenocarcinoma 2017-05-02 -7.2 2.0 Likely benign 1 -136011 Simple 200060953 A . Benign/Likely benign 2 2 Carcinoma of pancreas;Pancreatic adenocarcinoma 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -136014 Simple 142116575 C . Likely benign 2 2 Carcinoma of pancreas;Pancreatic adenocarcinoma 2017-04-04 -6.0 0.5 Likely benign 0 -136017 Simple 150562209 C . Benign/Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-30 -8.1 2.5 Likely benign 1 -136027 Simple 200676965 G . Uncertain significance 2 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -0.6 0.5 Uncertain significance 0 -136033 Simple 150307203 G . Benign/Likely benign 2 3 Lynch syndrome;not specified 2016-12-07 -13.2 2.0 Benign/Likely benign 0 -136034 Simple 587780773 G . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -1.2 0.25 Uncertain significance 0 -136035 Simple 587780774 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -136038 Simple 587780777 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-02-13 -0.5700000000000001 1.5 Uncertain significance 0 -136039 Simple 587780778 G . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-28 -8.4 1.3333333333333333 Benign/Likely benign 1 -136041 Simple 587780780 C . Benign/Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -12.9 2.0 Benign/Likely benign 0 -136042 Simple 200452212 C . Benign/Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-17 -12.9 2.0 Benign/Likely benign 0 -136043 Simple 147494981 G . Benign/Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -15.9 2.0 Benign/Likely benign 0 -136044 Simple 587780781 T . Benign/Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-03 -14.4 1.3333333333333333 Benign/Likely benign 0 -136045 Simple 587780782 C . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-12 -8.4 1.0 Benign/Likely benign 1 -136046 Simple 541992192 G . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.0 Uncertain significance 0 -136047 Simple 147660518 A . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-04 -8.1 1.6666666666666667 Likely benign 0 -136048 Simple 145750430 T . Benign/Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -12.9 2.0 Benign/Likely benign 0 -136049 Simple 372031054 G . Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -12.0 0.5 Benign/Likely benign 1 -136051 Simple 574229174 G . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-06-23 -0.54 2.0 Uncertain significance 0 -136052 Simple 200537780 C . Benign/Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-07-18 -12.0 0.6666666666666666 Benign/Likely benign 0 -136054 Simple 587780783 C . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -0.87 0.6666666666666666 Uncertain significance 0 -136055 Simple 587780784 T . Pathogenic 2 3 Hereditary diffuse gastric cancer;not provided;Hereditary cancer-predisposing syndrome 2017-08-11 17.4 0.6666666666666666 Pathogenic 0 -136056 Simple 148080550 T . Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -14.4 1.0 Benign/Likely benign 1 -136057 Simple 200161607 A . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -11.1 1.5 Benign/Likely benign 1 -136058 Simple 557551011 A . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-11 -20.4 1.2 Benign/Likely benign 0 -136059 Simple 139937234 T . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -13.8 1.5 Benign/Likely benign 0 -136062 Simple 147925149 G . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -1.2 0.5 Uncertain significance 0 -136064 Simple 35606263 A . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.47 0.8 Uncertain significance 0 -136065 Simple 587780787 T . Pathogenic 2 4 Hereditary diffuse gastric cancer;not provided;Hereditary cancer-predisposing syndrome 2017-10-08 24.0 0.25 Pathogenic 0 -136066 Simple 35236080 T . Benign/Likely benign 2 6 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -21.3 1.6666666666666667 Benign/Likely benign 0 -136067 Simple 115817750 T . Benign/Likely benign 2 7 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -21.0 1.7142857142857142 Benign/Likely benign 0 -136069 Simple 587780788 G . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-01-16 -0.87 1.3333333333333333 Uncertain significance 0 -136070 Simple 587780789 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-30 -8.1 1.6666666666666667 Likely benign 0 -136074 Simple 199526820 G . Benign/Likely benign 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-16 -16.8 1.4 Benign/Likely benign 0 -136076 Simple 587780792 T . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-24 -1.17 1.25 Uncertain significance 0 -136077 Simple 587780793 T . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-05-17 -0.5700000000000001 1.5 Uncertain significance 0 -136079 Simple 587780795 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -136080 Simple 587780796 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -136082 Simple 587780798 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -136083 Simple 587780799 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -136085 Simple 587780801 A . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -136086 Simple 587780802 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 21.6 2.25 Pathogenic 0 -136088 Simple 370299792 A . Likely benign 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-03-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -136095 Simple 373540097 A . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-24 -8.4 1.5 Benign/Likely benign 0 -136096 Simple 376465385 T . Likely benign 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-08-30 -11.4 1.5 Benign/Likely benign 1 -136098 Simple 549907428 G . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-02-21 -0.6 1.0 Uncertain significance 0 -136100 Simple 576806356 T . Benign/Likely benign 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2 2017-04-10 -11.4 1.3333333333333333 Benign/Likely benign 0 -136105 Simple 149768519 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-04-12 -5.7 1.0 Likely benign 0 -136107 Simple 55862116 T . Benign/Likely benign 2 8 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-08-07 -26.7 0.875 Benign 1 -136108 Simple 527726480 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.0 Uncertain significance 0 -136110 Simple 535051804 T . Likely benign 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-09 -11.4 1.25 Benign/Likely benign 1 -136115 Simple 201740483 G . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-27 -6.0 0.5 Likely benign 0 -136118 Simple 144192900 C . Likely benign 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-04-05 -11.7 1.0 Benign/Likely benign 1 -136120 Simple 587780814 A . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-02-16 -0.81 2.0 Uncertain significance 0 -136126 Simple 587780817 A . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -13.8 1.6 Benign/Likely benign 1 -136128 Simple 567706422 G . Benign/Likely benign 2 7 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -21.3 1.8571428571428572 Benign/Likely benign 0 -136129 Simple 148647206 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8999999999999999 0.0 Uncertain significance 0 -136130 Simple 587780819 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-23 -9.0 0.6666666666666666 Benign/Likely benign 1 -136131 Simple 587780820 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -136132 Simple 587776416 - . Pathogenic 2 7 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 39.6 1.2857142857142858 Pathogenic 0 -136135 Simple 45542234 A . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -20.7 2.2 Benign/Likely benign 0 -136136 Simple 587780822 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.17 1.0 Uncertain significance 0 -136137 Simple 373783514 A . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -14.1 1.0 Benign/Likely benign 1 -136138 Simple 587780823 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-24 -0.81 1.6666666666666667 Uncertain significance 0 -136140 Simple 587780825 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -0.87 0.6666666666666666 Uncertain significance 0 -136141 Simple 369631413 A . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.7999999999999998 0.5 Uncertain significance 0 -136143 Simple 587780827 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-05-22 -1.2 0.5 Uncertain significance 0 -136146 Simple 112414873 G . Benign/Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -15.9 2.0 Benign/Likely benign 0 -136148 Simple 188258913 G . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-14 -8.4 1.3333333333333333 Benign/Likely benign 1 -136150 Simple 587780831 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -136152 Simple 587780833 T . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2016-06-03 7.8 2.0 Likely pathogenic 1 -136154 Simple 138743097 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.0 Uncertain significance 0 -136157 Simple 45511291 G . Benign/Likely benign 2 8 Fanconi anemia;Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2017-08-10 -39.0 1.5 Benign 1 -136158 Simple 587780836 A . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-08-21 -0.6 0.5 Uncertain significance 0 -136160 Simple 587780838 A . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-03 -1.2 0.5 Uncertain significance 0 -136162 Simple 184033132 A . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -1.2 0.0 Uncertain significance 0 -136164 Simple 587780841 G . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-25 -5.7 1.0 Likely benign 0 -136166 Simple 375804228 T . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -136167 Simple 587780843 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.0 Uncertain significance 0 -136168 Simple 143423552 G . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-26 -5.4 1.5 Likely benign 0 -136169 Simple 371192390 A . Benign/Likely benign 2 3 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-20 -11.4 1.3333333333333333 Benign/Likely benign 0 -136192 Simple 587780570 - . Pathogenic 2 2 Angelman syndrome 2016-11-16 9.6 3.0 Pathogenic/Likely pathogenic 1 -136214 Simple 35623954 T . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -6.6 3.0 Likely benign 1 -136216 Simple 35967387 T . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -6.6 3.0 Likely benign 1 -136217 Simple 111325758 T . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -6.6 3.0 Likely benign 1 -136218 Simple 35783144 C . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -6.6 3.0 Likely benign 1 -136220 Simple 112247130 A . Benign/Likely benign 2 2 not specified;not provided 2017-01-27 -7.2 2.5 Likely benign 1 -136222 Simple 75506489 T . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -6.6 3.0 Likely benign 1 -136225 Simple 115815965 T . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -7.8 2.0 Likely benign 1 -136232 Simple 80339975 G . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -6.6 3.0 Likely benign 1 -136234 Simple 2275029 C . Benign/Likely benign 2 7 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-10-31 -25.8 2.0 Benign 1 -136235 Simple 1762114 G . Benign 2 7 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2017-07-05 -40.8 1.1428571428571428 Benign 0 -136242 Simple 140031135 A . Benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -136243 Simple 147584361 T . Benign/Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -7.2 2.5 Likely benign 1 -136244 Simple 5937938 A . Benign/Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -7.2 2.5 Likely benign 1 -136245 Simple 1340989 A . Benign 2 3 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -136246 Simple 1340990 C . Benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -136252 Simple 1979529 C . Benign/Likely benign 2 2 Acyl-CoA dehydrogenase family, member 9, deficiency of;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -136253 Simple 115532916 A . Benign/Likely benign 2 3 Acyl-CoA dehydrogenase family, member 9, deficiency of;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -136254 Simple 79530903 C . Benign/Likely benign 2 2 not specified;not provided 2015-06-02 -6.9 3.0 Likely benign 1 -136255 Simple 4494951 A . Benign/Likely benign 2 2 Acyl-CoA dehydrogenase family, member 9, deficiency of;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -136257 Simple 17097429 T . Benign 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2017-06-14 -16.2 1.3333333333333333 Benign/Likely benign 1 -136258 Simple 59932454 C . Benign/Likely benign 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -136259 Simple 3914 C . Benign 2 2 Deficiency of butyryl-CoA dehydrogenase;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -136260 Simple 3915 T . Benign 2 2 Deficiency of butyryl-CoA dehydrogenase;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -136263 Simple 203319 T . Benign 2 1 not specified 2013-09-06 . 4.0 . 0 -136279 Simple 714887 G . Benign 2 1 not specified 2013-02-06 . 5.0 . 0 -136282 Simple 1341864 T . Benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-08-07 -13.8 3.6666666666666665 Benign/Likely benign 1 -136283 Simple 1341863 C . Benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-08-07 -12.6 4.666666666666667 Benign/Likely benign 1 -136284 Simple 150182164 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2017-06-25 -13.8 1.3333333333333333 Benign/Likely benign 0 -136286 Simple 369560444 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2016-09-30 -9.9 2.3333333333333335 Benign/Likely benign 0 -136287 Simple 138279482 T . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -136290 Simple 115155428 T . Benign/Likely benign 2 3 Heterotaxy, visceral, 4, autosomal;Heterotaxy syndrome;not specified 2016-10-16 -13.2 2.0 Benign/Likely benign 0 -136291 Simple 9876823 T . Benign/Likely benign 2 3 Heterotaxy, visceral, 4, autosomal;Heterotaxy syndrome;not specified 2017-07-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -136292 Simple 2277382 T . Benign 2 2 not specified 2016-08-11 -10.2 2.5 Benign/Likely benign 1 -136293 Simple 2071218 T . Benign 2 4 Osler hemorrhagic telangiectasia syndrome;not specified 2017-02-03 -19.8 2.75 Benign/Likely benign 1 -136296 Simple 150541057 T . Benign/Likely benign 2 2 not specified 2016-11-30 -7.2 2.5 Likely benign 1 -136297 Simple 2297411 G . Benign/Likely benign 2 3 not specified;Autosomal recessive cerebellar ataxia;Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -136301 Simple 55637780 T . Benign/Likely benign 2 2 not specified 2017-03-13 -7.2 2.0 Likely benign 1 -136302 Simple 55958233 T . Benign/Likely benign 2 3 not specified;Autosomal recessive cerebellar ataxia;Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -136305 Simple 145688619 C . Benign/Likely benign 2 3 not specified;Autosomal recessive cerebellar ataxia;Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -136307 Simple 145786986 T . Benign/Likely benign 2 5 Adenylosuccinate lyase deficiency;not specified 2017-08-22 -24.0 1.6 Benign 1 -136312 Simple 8097342 A . Benign 2 4 not specified;Spinocerebellar Ataxia, Dominant 2017-07-12 -21.6 1.75 Benign/Likely benign 1 -136313 Simple 8091858 T . Benign/Likely benign 2 3 not specified;Spinocerebellar Ataxia, Dominant 2017-07-12 -13.2 1.6666666666666667 Benign/Likely benign 0 -136314 Simple 200476229 G . Benign/Likely benign 2 3 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -136316 Simple 113981080 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -136317 Simple 556432963 A . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -136318 Simple 150421355 T . Benign 2 2 Cataract and cardiomyopathy;not specified;Cataract, autosomal recessive congenital 5 2017-04-25 -10.8 1.5 Benign/Likely benign 1 -136320 Simple 12014115 A . Benign 2 3 Charcot-Marie-Tooth Neuropathy X;not specified;Combined oxidative phosphorylation deficiency 2017-07-20 -16.2 1.6666666666666667 Benign/Likely benign 1 -136322 Simple 12007545 C . Benign 2 3 Charcot-Marie-Tooth Neuropathy X;not specified;Combined oxidative phosphorylation deficiency 2017-07-20 -16.2 1.6666666666666667 Benign/Likely benign 1 -136323 Simple 143792929 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth Neuropathy X;not specified;Combined oxidative phosphorylation deficiency 2017-07-10 -13.8 1.3333333333333333 Benign/Likely benign 0 -136324 Simple 141324245 G . Benign 2 2 Charcot-Marie-Tooth Neuropathy X;not specified;Combined oxidative phosphorylation deficiency 2017-06-23 -10.8 1.5 Benign/Likely benign 1 -136325 Simple 73556209 G . Benign 2 2 Charcot-Marie-Tooth Neuropathy X;not specified;Combined oxidative phosphorylation deficiency 2017-07-17 -10.8 1.5 Benign/Likely benign 1 -136326 Simple 61730896 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth Neuropathy X;not specified;Combined oxidative phosphorylation deficiency 2017-04-06 -13.2 1.6666666666666667 Benign/Likely benign 0 -136327 Simple 12116440 T . Benign/Likely benign 2 3 Reticular dysgenesis;not specified;not provided 2017-07-17 -13.2 1.6666666666666667 Benign/Likely benign 0 -136330 Simple 2230768 A . Benign/Likely benign 2 6 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2017-07-28 -25.8 2.0 Benign 1 -136331 Simple 9785013 A . Benign 2 2 not specified 2015-06-08 -8.4 4.0 Benign/Likely benign 1 -136332 Simple 150016098 C . Benign/Likely benign 2 3 Long QT syndrome;not specified;not provided 2017-02-20 -8.1 3.6666666666666665 Likely benign 1 -136333 Simple 10236397 T . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -136335 Simple 733957 T . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;not specified 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -136337 Simple 61757672 A . Benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-06-06 -14.4 2.6666666666666665 Benign/Likely benign 1 -136338 Simple 35759833 G . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-06-14 -18.6 2.8 Benign/Likely benign 0 -136339 Simple 144662445 G . Benign 2 2 Long QT syndrome;not specified 2017-05-02 -9.0 3.0 Benign/Likely benign 1 -136340 Simple 6960867 G . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-06-14 -18.6 2.8 Benign/Likely benign 0 -136341 Simple 10228334 T . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-06-14 -19.8 2.4 Benign/Likely benign 0 -136342 Simple 1063242 T . Benign/Likely benign 2 6 Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Cardiovascular phenotype 2016-06-14 -21.900000000000002 2.6666666666666665 Benign/Likely benign 0 -136343 Simple 28927678 T . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-06-14 -20.4 2.2 Benign/Likely benign 0 -136344 Simple 1063243 C . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -136345 Simple 34327395 G . Benign/Likely benign 2 6 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2017-07-10 -24.6 2.3333333333333335 Benign 1 -136346 Simple 142401936 T . Benign/Likely benign 2 3 not specified;not provided 2017-03-17 -11.7 3.0 Benign/Likely benign 0 -136347 Simple 6964587 T . Benign/Likely benign 2 6 Long QT syndrome;not specified;Colorectal cancer;Cardiovascular phenotype 2016-06-14 -27.0 2.6666666666666665 Benign 1 -136348 Simple 61757665 T . Benign 2 2 Long QT syndrome;not specified 2017-06-14 -9.0 3.0 Benign/Likely benign 1 -136349 Simple 1989779 T . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-06-14 -19.2 2.6 Benign/Likely benign 0 -136350 Simple 13245393 G . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-06-14 -19.8 2.4 Benign/Likely benign 0 -136351 Simple 727467 A . Benign/Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -7.2 2.5 Likely benign 1 -136353 Simple 150494562 T . Benign/Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -7.2 2.5 Likely benign 1 -136354 Simple 140584437 C . Benign/Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -7.2 2.5 Likely benign 1 -136358 Simple 150313977 C . Benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -136370 Simple 146438406 C . Benign 2 2 Pyridoxine-dependent epilepsy;not specified 2017-02-28 -10.2 2.5 Benign/Likely benign 1 -136372 Simple 185333013 T . Benign/Likely benign 2 1 not specified 2013-11-26 . 4.0 . 0 -136373 Simple 138056453 T . Benign 2 2 Pyridoxine-dependent epilepsy;not specified 2017-07-24 -9.6 2.5 Benign/Likely benign 1 -136379 Simple 201566142 C . Benign/Likely benign 2 3 Pyridoxine-dependent epilepsy;not specified 2017-05-30 -12.6 2.3333333333333335 Benign/Likely benign 0 -136381 Simple 145502481 A . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2016-09-02 -12.9 2.3333333333333335 Benign/Likely benign 0 -136383 Simple 587780852 T . Benign 2 2 Long QT syndrome;not specified 2015-01-13 -9.6 3.0 Benign/Likely benign 1 -136386 Simple 139893914 T . Benign 2 3 Cardiac arrhythmia, ankyrin B-related;Long QT syndrome;not specified 2017-08-07 -15.0 2.0 Benign/Likely benign 1 -136390 Simple 3736575 T . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -136391 Simple 2272231 T . Benign/Likely benign 2 2 Long QT syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -136394 Simple 35728190 T . Benign 2 1 not specified 2015-03-04 . 3.0 . 0 -136397 Simple 2293324 C . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -136398 Simple 45517840 T . Benign/Likely benign 2 4 Long QT syndrome;not specified;Cardiovascular phenotype 2017-07-31 -18.0 2.0 Benign/Likely benign 0 -136400 Simple 35446871 T . Benign/Likely benign 2 2 Long QT syndrome;not specified 2016-06-14 -6.0 3.5 Likely benign 1 -136403 Simple 11595794 T . Benign/Likely benign 2 2 not specified;Dilated Cardiomyopathy, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -136405 Simple 141579422 A . Benign/Likely benign 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -22.2 1.5 Benign/Likely benign 0 -136406 Simple 367690523 C . Benign/Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-10-05 -10.8 1.6666666666666667 Benign/Likely benign 0 -136407 Simple 145792879 T . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-08 -24.9 2.2857142857142856 Benign 1 -136408 Simple 137854575 T . Benign/Likely benign 2 9 Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -35.7 1.5555555555555556 Benign 1 -136409 Simple 114774495 A . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -28.2 1.4 Benign 1 -136410 Simple 2229997 G . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-08 -34.2 1.8571428571428572 Benign 1 -136411 Simple 2229993 A . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-11 -32.4 1.5714285714285714 Benign 1 -136414 Simple 34778324 T . Benign/Likely benign 2 4 not specified;not provided 2017-07-25 -18.0 2.0 Benign/Likely benign 0 -136415 Simple 10123944 A . Benign 2 3 not specified;Ataxia with Oculomotor Apraxia;Coenzyme Q10 deficiency, Oculomotor Apraxia Type 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -136418 Simple 41304647 T . Benign 2 1 not specified 2013-10-30 . 4.0 . 0 -136419 Simple 34504481 T . Benign/Likely benign 2 3 Arginase deficiency;not specified 2017-05-08 -13.8 1.3333333333333333 Benign/Likely benign 0 -136421 Simple 200700643 G . Benign 2 2 not specified 2013-07-31 -7.800000000000001 4.5 Likely benign 2 -136422 Simple 111407265 A . Benign/Likely benign 2 3 not specified;not provided 2017-01-24 -13.2 2.0 Benign/Likely benign 0 -136428 Simple 3759588 A . Benign 2 3 Spastic paraplegia 3;Hereditary sensory neuropathy type 1D;not specified;Spastic Paraplegia, Dominant 2017-05-24 -16.2 1.6666666666666667 Benign/Likely benign 1 -136429 Simple 140104789 A . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -16.2 1.6 Benign/Likely benign 0 -136433 Simple 200190537 G . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -9.9 2.0 Benign/Likely benign 0 -136434 Simple 145333518 C . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -18.0 2.2 Benign/Likely benign 0 -136435 Simple 61734356 C . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -12.9 2.0 Benign/Likely benign 0 -136436 Simple 587780855 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -13.2 1.75 Benign/Likely benign 0 -136437 Simple 55812024 G . Benign/Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -10.2 2.0 Benign/Likely benign 0 -136441 Simple 79701258 A . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -136442 Simple 141460670 C . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -18.0 2.2 Benign/Likely benign 0 -136444 Simple 3092842 T . Benign 2 6 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -33.6 1.1666666666666667 Benign 0 -136445 Simple 183214437 G . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -15.6 1.75 Benign/Likely benign 0 -136446 Simple 3092828 C . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-24 -9.600000000000001 3.0 Benign/Likely benign 1 -136447 Simple 61734526 A . Benign 2 3 Familial hemiplegic migraine;not specified 2017-06-27 -15.0 2.3333333333333335 Benign/Likely benign 1 -136451 Simple 200102433 G . Benign 2 3 Familial hemiplegic migraine;not specified 2017-06-01 -16.8 1.3333333333333333 Benign/Likely benign 1 -136457 Simple 111510835 T . Benign/Likely benign 2 3 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -136458 Simple 41265761 G . Benign/Likely benign 2 3 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -136463 Simple 150392503 T . Benign 2 3 Mental retardation, X-linked, syndromic, Hedera type;not specified 2017-05-16 -16.2 1.6666666666666667 Benign/Likely benign 1 -136465 Simple 190477001 C . Benign 2 3 Mental retardation, X-linked, syndromic, Hedera type;not specified 2017-06-23 -16.2 1.6666666666666667 Benign/Likely benign 1 -136467 Simple 62073570 T . Benign/Likely benign 2 2 not specified;not provided 2016-09-15 -7.2 2.5 Likely benign 1 -136468 Simple 33997182 T . Benign/Likely benign 2 2 not specified;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2016-06-14 -6.6 3.0 Likely benign 1 -136469 Simple 149036879 T . Benign/Likely benign 2 2 not specified;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2016-06-14 -7.2 2.5 Likely benign 1 -136470 Simple 2229032 T . Benign/Likely benign 2 4 Seckel syndrome;not specified 2016-06-14 -17.4 2.5 Benign/Likely benign 0 -136471 Simple 2227932 G . Benign/Likely benign 2 3 Seckel syndrome;not specified 2016-06-14 -9.3 3.0 Benign/Likely benign 0 -136474 Simple 74484860 T . Benign/Likely benign 2 3 3-Methylglutaconic aciduria;not specified 2017-08-04 -12.6 2.0 Benign/Likely benign 0 -136475 Simple 367595502 A . Benign/Likely benign 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-08-08 -13.8 1.3333333333333333 Benign/Likely benign 0 -136476 Simple 141697521 A . Benign/Likely benign 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-08-03 -13.8 1.3333333333333333 Benign/Likely benign 0 -136477 Simple 115931022 C . Benign 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-08-18 -16.2 1.6666666666666667 Benign/Likely benign 1 -136478 Simple 201460658 A . Benign/Likely benign 2 4 Oligodontia-colorectal cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -16.5 1.5 Benign/Likely benign 0 -136479 Simple 369221405 T . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-21 -7.2 2.0 Likely benign 1 -136480 Simple 149483825 A . Benign/Likely benign 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -136481 Simple 141014640 T . Benign/Likely benign 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -136482 Simple 139316692 A . Benign/Likely benign 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-08-03 -13.8 1.3333333333333333 Benign/Likely benign 0 -136483 Simple 73346297 C . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-11 -10.2 2.0 Benign/Likely benign 0 -136484 Simple 9913621 T . Benign/Likely benign 2 4 Oligodontia-colorectal cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -18.6 1.75 Benign/Likely benign 0 -136486 Simple 145353986 G . Benign/Likely benign 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-08-15 -13.2 1.6666666666666667 Benign/Likely benign 0 -136487 Simple 200573256 T . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-19 -7.2 2.0 Likely benign 1 -136488 Simple 116525755 T . Benign/Likely benign 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -136489 Simple 79732150 T . Benign/Likely benign 2 4 Oligodontia-colorectal cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -15.9 1.75 Benign/Likely benign 0 -136490 Simple 141655687 A . Benign/Likely benign 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-08-01 -13.2 1.6666666666666667 Benign/Likely benign 0 -136491 Simple 139232658 A . Benign 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-08-07 -10.8 1.5 Benign/Likely benign 1 -136493 Simple 112929734 G . Benign/Likely benign 2 5 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-28 -18.9 1.8 Benign/Likely benign 0 -136494 Simple 200388926 A . Benign/Likely benign 2 3 not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -136495 Simple 137965903 G . Benign/Likely benign 2 4 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2016-12-29 -19.2 2.0 Benign/Likely benign 0 -136496 Simple 28997574 G . Benign/Likely benign 2 7 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-21 -32.4 1.5714285714285714 Benign 1 -136497 Simple 3738885 C . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -30.0 1.6666666666666667 Benign 1 -136498 Simple 587780859 C . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -13.2 1.75 Benign/Likely benign 0 -136499 Simple 35306212 T . Benign/Likely benign 2 7 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-08 -34.8 1.8571428571428572 Benign 1 -136500 Simple 3738888 A . Benign/Likely benign 2 7 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-15 -28.8 1.8571428571428572 Benign 1 -136501 Simple 61754118 C . Benign/Likely benign 2 9 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-21 -46.2 1.6666666666666667 Benign 1 -136502 Simple 58447305 A . Benign/Likely benign 2 4 GRACILE syndrome;Leigh syndrome;Mitochondrial complex III deficiency;not specified 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -136503 Simple 33946522 T . Benign/Likely benign 2 4 GRACILE syndrome;Leigh syndrome;Mitochondrial complex III deficiency;not specified 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -136505 Simple 35843327 C . Benign/Likely benign 2 4 GRACILE syndrome;Leigh syndrome;Mitochondrial complex III deficiency;not specified 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -136507 Simple 576862402 C . Benign/Likely benign 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -10.2 1.3333333333333333 Benign/Likely benign 0 -136508 Simple 185349681 C . Benign/Likely benign 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -10.2 1.6666666666666667 Benign/Likely benign 0 -136509 Simple 28903082 A . Benign/Likely benign 2 4 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -16.2 1.5 Benign/Likely benign 0 -136510 Simple 28385009 C . Benign/Likely benign 2 4 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -19.2 1.5 Benign/Likely benign 0 -136511 Simple 28385011 G . Benign/Likely benign 2 4 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -15.6 2.0 Benign/Likely benign 0 -136516 Simple 2229035 A . Benign/Likely benign 2 5 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -22.2 1.2 Benign/Likely benign 0 -136522 Simple 3810682 G . Benign 2 2 not specified;Ovarian Dysgenesis 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -136523 Simple 41308602 G . Benign 2 2 not specified;Ovarian Dysgenesis 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -136524 Simple 56108371 A . Benign/Likely benign 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-08-08 -28.2 1.5 Benign 1 -136525 Simple 150946485 T . Benign 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -27.0 1.8 Benign 0 -136526 Simple 145756629 G . Benign/Likely benign 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-08-07 -24.6 1.6666666666666667 Benign 1 -136527 Simple 142775086 A . Benign/Likely benign 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -30.0 1.6666666666666667 Benign 1 -136528 Simple 2228545 A . Benign/Likely benign 2 6 Primary pulmonary hypertension;not specified 2017-07-24 -30.0 1.6666666666666667 Benign 1 -136529 Simple 1061157 A . Benign 2 4 Primary pulmonary hypertension;not specified 2016-12-04 -19.8 2.75 Benign/Likely benign 1 -136531 Simple 71645959 A . Benign 2 1 not specified 2012-10-16 . 5.0 . 0 -136532 Simple 369635503 C . Benign 3 2 not specified;not provided;Rasopathy 2017-04-03 -12.6 0.5 Benign/Likely benign 1 -136534 Simple 71645980 G . Benign 2 1 not specified 2013-09-08 . 4.0 . 0 -136536 Simple 71645936 C . Benign/Likely benign 2 5 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Cardio-facio-cutaneous syndrome 2016-06-14 -15.9 1.8 Benign/Likely benign 0 -136537 Simple 149402012 A . Benign 3 10 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -46.8 1.8 Benign 0 -136538 Simple 34545365 T . Likely benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.1 2.2857142857142856 Benign/Likely benign 1 -136540 Simple 149867679 T . Benign 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -34.8 1.875 Benign 0 -136541 Simple 533802049 A . Benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-29 -25.77 1.4285714285714286 Benign 0 -136542 Simple 369373293 G . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.5 1.4 Benign/Likely benign 1 -136543 Simple 372017932 T . Likely benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -22.8 2.142857142857143 Benign/Likely benign 1 -136544 Simple 148038877 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.9 1.6 Benign/Likely benign 1 -136545 Simple 587780862 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.9 1.75 Benign/Likely benign 1 -136546 Simple 140588714 G . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.4 1.1666666666666667 Benign/Likely benign 1 -136547 Simple 147448807 T . Likely benign 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -33.0 1.6666666666666667 Benign 2 -136548 Simple 562625234 A . Benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-09-28 -17.4 1.6666666666666667 Benign/Likely benign 1 -136549 Simple 587780863 G . Likely benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -23.7 1.5714285714285714 Benign/Likely benign 1 -136550 Simple 587780864 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.9 2.3333333333333335 Benign/Likely benign 1 -136551 Simple 142459158 A . Benign 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -36.9 1.5 Benign 0 -136552 Simple 191373374 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -24.9 1.5 Benign 2 -136553 Simple 587780865 C . Benign/Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -10.8 1.3333333333333333 Benign/Likely benign 0 -136554 Simple 11571652 C . Benign 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -41.1 1.7777777777777777 Benign 0 -136555 Simple 144984153 G . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -23.1 2.142857142857143 Benign/Likely benign 1 -136556 Simple 587780866 G . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -21.3 1.4285714285714286 Benign/Likely benign 1 -136557 Simple 45619134 C . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-29 -22.2 1.2857142857142858 Benign/Likely benign 1 -136558 Simple 368404583 A . Likely benign 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -18.9 1.6 Benign/Likely benign 1 -136559 Simple 587780867 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.5 1.4 Benign/Likely benign 1 -136560 Simple 140556653 C . Benign 3 9 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -41.4 1.7777777777777777 Benign 0 -136561 Simple 28897730 G . Likely benign 3 9 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -38.1 1.6666666666666667 Benign 2 -136562 Simple 147961615 T . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -29.7 1.8571428571428572 Benign 0 -136565 Simple 373134168 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.5 1.2 Benign/Likely benign 1 -136566 Simple 587780870 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.8 1.2 Benign/Likely benign 1 -136567 Simple 587780871 A . Likely benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-29 -22.17 1.5 Benign/Likely benign 1 -136568 Simple 186419778 G . Benign/Likely benign 2 6 Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -30.9 1.5 Benign 1 -136569 Simple 148880015 C . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -28.2 1.4285714285714286 Benign 2 -136570 Simple 587780872 T . Benign/Likely benign 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-10 -13.2 1.25 Benign/Likely benign 0 -136571 Simple 28897754 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.2 1.4 Benign/Likely benign 1 -136572 Simple 368576266 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.5 1.2 Benign/Likely benign 1 -136573 Simple 587780873 T . Likely benign 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -25.74 1.5 Benign 2 -136574 Simple 77851913 G . Benign 2 4 Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2016-06-08 -21.6 2.0 Benign/Likely benign 1 -136576 Simple 148752066 G . Benign/Likely benign 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -15.9 1.4 Benign/Likely benign 0 -136579 Simple 75091137 C . Benign/Likely benign 2 9 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -36.0 1.5555555555555556 Benign 1 -136583 Simple 117820198 T . Benign/Likely benign 2 5 Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2016-07-05 -24.6 1.8 Benign 1 -136584 Simple 587780875 G . Benign/Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -12.9 2.0 Benign/Likely benign 0 -136585 Simple 4988340 T . Benign/Likely benign 2 3 Fanconi anemia;not specified;Neoplasm of the breast 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -136587 Simple 11542130 T . Benign/Likely benign 2 6 not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2016-06-14 -18.9 1.6666666666666667 Benign/Likely benign 0 -136588 Simple 17113613 A . Benign 2 3 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -136589 Simple 3740485 T . Benign 2 6 not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2017-07-26 -33.0 1.6666666666666667 Benign 0 -136590 Simple 3740486 C . Benign 2 6 not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2017-07-26 -33.0 1.6666666666666667 Benign 0 -136591 Simple 3740487 A . Benign 2 1 not specified 2011-06-30 . 6.0 . 0 -136593 Simple 3740484 T . Benign 2 5 not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2016-06-14 -27.0 2.0 Benign 0 -136594 Simple 201795189 A . Benign/Likely benign 2 5 not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2016-06-14 -16.2 1.6 Benign/Likely benign 0 -136605 Simple 61743028 A . Benign/Likely benign 2 2 not specified;not provided 2016-07-14 -7.2 2.5 Likely benign 1 -136611 Simple 200602896 A . Benign/Likely benign 2 2 Long QT syndrome;not specified 2016-10-12 -7.8 2.0 Likely benign 1 -136612 Simple 200847105 T . Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-04-21 -12.0 0.75 Benign/Likely benign 1 -136613 Simple 112539787 T . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-08-03 -15.6 1.75 Benign/Likely benign 0 -136614 Simple 2238087 T . Benign/Likely benign 2 1 not specified 2013-07-22 . 4.0 . 0 -136615 Simple 116491041 T . Benign/Likely benign 2 5 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-07-21 -18.6 1.6 Benign/Likely benign 0 -136618 Simple 199629800 A . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-05-31 -7.8 1.5 Likely benign 1 -136619 Simple 144992959 T . Benign 2 2 Long QT syndrome;not specified 2016-09-25 -10.2 2.5 Benign/Likely benign 1 -136622 Simple 199569953 T . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-03-12 -12.0 2.0 Benign/Likely benign 0 -136623 Simple 56180838 T . Benign/Likely benign 2 5 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-08 -20.4 2.0 Benign/Likely benign 0 -136627 Simple 377568567 T . Benign/Likely benign 2 5 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-05-07 -21.6 1.6 Benign/Likely benign 0 -136628 Simple 563090568 T . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-06-20 -16.2 1.5 Benign/Likely benign 0 -136629 Simple 137904817 A . Benign 2 3 Long QT syndrome;not specified 2017-07-25 -15.600000000000001 2.0 Benign/Likely benign 1 -136630 Simple 139872789 T . Benign/Likely benign 2 5 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-07-22 -22.8 1.2 Benign/Likely benign 0 -136633 Simple 72552065 T . Benign/Likely benign 2 6 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-06 -24.6 2.3333333333333335 Benign 1 -136635 Simple 192749597 T . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-08-04 -16.2 1.5 Benign/Likely benign 0 -136638 Simple 10848683 T . Benign 2 2 not specified 2013-06-24 -7.2 5.0 Likely benign 2 -136639 Simple 10774053 G . Benign 2 2 not specified 2013-06-24 -7.2 5.0 Likely benign 2 -136640 Simple 10774054 G . Benign 2 2 not specified 2013-06-24 -7.2 5.0 Likely benign 2 -136642 Simple 587780882 G . Benign/Likely benign 2 2 Long QT syndrome;not specified 2016-08-30 -7.2 2.5 Likely benign 1 -136643 Simple 546786746 A . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-07-27 -6.6 2.5 Likely benign 1 -136646 Simple 34813638 T . Benign/Likely benign 2 3 Brugada syndrome 4;Brugada syndrome;not specified 2017-06-08 -12.6 2.0 Benign/Likely benign 0 -136648 Simple 61733967 T . Benign/Likely benign 2 3 Brugada syndrome 4;Brugada syndrome;not specified 2017-06-08 -13.2 1.6666666666666667 Benign/Likely benign 0 -136649 Simple 58225473 G . Benign/Likely benign 2 5 Brugada syndrome;not specified;Cardiovascular phenotype 2016-06-14 -21.0 3.0 Benign/Likely benign 0 -136650 Simple 147647355 A . Benign 2 3 Idiopathic generalized epilepsy;not specified 2017-05-16 -16.2 1.6666666666666667 Benign/Likely benign 1 -136651 Simple 41270209 T . Benign/Likely benign 2 3 Juvenile myoclonic epilepsy;Episodic ataxia;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -136652 Simple 201870832 C . Benign 2 2 not specified 2016-05-12 -10.2 2.5 Benign/Likely benign 1 -136656 Simple 143675846 A . Benign 2 3 Juvenile myoclonic epilepsy;Episodic ataxia;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -136657 Simple 143718767 T . Benign/Likely benign 2 2 not specified 2015-01-28 -6.6 3.5 Likely benign 1 -136663 Simple 148368481 T . Benign/Likely benign 2 3 not specified;Rasopathy;Noonan-Like Syndrome Disorder 2016-08-04 -10.2 2.0 Benign/Likely benign 0 -136664 Simple 117902985 T . Benign/Likely benign 2 2 not specified;Noonan-Like Syndrome Disorder 2016-06-14 -7.2 2.5 Likely benign 1 -136665 Simple 143840974 C . Benign/Likely benign 2 5 not specified;Rasopathy;Noonan-Like Syndrome Disorder 2017-07-02 -22.8 2.2 Benign/Likely benign 0 -136667 Simple 73906420 T . Benign/Likely benign 2 6 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-26 -27.6 2.3333333333333335 Benign 1 -136674 Simple 201158177 A . Benign/Likely benign 2 5 Homocystinuria due to CBS deficiency;Homocystinuria;not specified 2017-08-03 -23.4 2.0 Benign/Likely benign 0 -136677 Simple 34040148 G . Benign/Likely benign 2 6 Homocystinuria due to CBS deficiency;Homocystinuria;not specified;not provided 2017-07-24 -28.2 2.1666666666666665 Benign 1 -136678 Simple 114335547 G . Benign/Likely benign 2 1 not specified 2014-05-27 . 3.0 . 0 -136690 Simple 2231444 C . Benign/Likely benign 2 3 not specified;Immunodeficiency 18;Severe Combined Immune Deficiency 2017-07-25 -13.8 1.3333333333333333 Benign/Likely benign 0 -136691 Simple 116542018 G . Benign/Likely benign 2 6 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -26.400000000000002 1.8333333333333333 Benign 1 -136692 Simple 3743674 T . Benign 2 7 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -37.2 2.0 Benign 0 -136693 Simple 115494727 T . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -12.3 2.25 Benign/Likely benign 0 -136694 Simple 33984587 G . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2015-10-01 -14.4 3.0 Benign/Likely benign 1 -136695 Simple 61756284 T . Benign/Likely benign 2 6 Hereditary diffuse gastric cancer;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 -24.3 1.6666666666666667 Benign 1 -136696 Simple 114192597 C . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -18.9 1.6 Benign/Likely benign 0 -136697 Simple 35741240 C . Benign/Likely benign 2 7 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -32.1 1.7142857142857142 Benign 1 -136698 Simple 1801025 T . Benign/Likely benign 2 8 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -25.5 1.125 Benign 1 -136699 Simple 61747636 T . Benign/Likely benign 2 7 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -27.3 1.5714285714285714 Benign 1 -136700 Simple 2290024 G . Benign 2 1 not specified 2013-03-05 . 4.0 . 0 -136702 Simple 12242607 A . Benign 2 2 not specified 2014-03-21 -7.8 5.5 Likely benign 2 -136705 Simple 2501727 G . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -136706 Simple 6478475 T . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -136707 Simple 3750494 G . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -136708 Simple 75029577 T . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -136709 Simple 199814742 G . Benign 2 2 not specified;not provided 2015-06-29 -9.0 3.5 Benign/Likely benign 1 -136711 Simple 150844616 T . Benign 2 5 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2017-03-29 -25.8 2.2 Benign 0 -136712 Simple 143992148 C . Benign/Likely benign 2 3 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2016-06-20 -13.5 2.0 Benign/Likely benign 0 -136713 Simple 35478150 C . Benign 2 4 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2017-08-16 -18.6 3.0 Benign/Likely benign 1 -136714 Simple 145401225 A . Benign 2 3 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2017-07-31 -15.6 2.0 Benign/Likely benign 1 -136716 Simple 150900695 T . Benign 2 2 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2017-07-19 -10.2 2.0 Benign/Likely benign 1 -136717 Simple 374360796 A . Benign/Likely benign 2 6 Melanoma-pancreatic cancer syndrome;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-07 -19.2 1.5 Benign/Likely benign 0 -136718 Simple 17081368 A . Benign/Likely benign 2 5 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2017-06-23 -20.4 2.0 Benign/Likely benign 0 -136719 Simple 2289181 A . Benign/Likely benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -136720 Simple 77732888 A . Benign/Likely benign 2 5 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -18.0 3.0 Benign/Likely benign 0 -136721 Simple 9302144 T . Benign/Likely benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -136722 Simple 2289178 A . Benign/Likely benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -136723 Simple 16961560 C . Benign/Likely benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -136728 Simple 2468255 T . Benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-08-15 -10.2 2.0 Benign/Likely benign 1 -136731 Simple 199607550 G . Benign 2 2 not specified;not provided 2016-07-22 -10.2 2.5 Benign/Likely benign 1 -136740 Simple 200501745 G . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-07-11 -12.3 2.5 Benign/Likely benign 0 -136741 Simple 587780889 G . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -13.5 1.25 Benign/Likely benign 0 -136742 Simple 145754558 A . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer 2016-06-14 -21.0 2.0 Benign/Likely benign 0 -136743 Simple 199780411 G . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-10-13 -13.2 2.0 Benign/Likely benign 0 -136744 Simple 17881378 T . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -21.3 1.8333333333333333 Benign/Likely benign 0 -136745 Simple 587780890 G . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -15.0 2.2 Benign/Likely benign 0 -136748 Simple 373046238 T . Benign/Likely benign 2 2 not specified;Nocturnal frontal lobe epilepsy 2016-06-14 -7.2 2.5 Likely benign 1 -136749 Simple 202012980 G . Benign 2 2 not specified 2015-10-22 -9.0 3.5 Benign/Likely benign 1 -136750 Simple 535699325 A . Benign/Likely benign 2 3 not specified;Nocturnal frontal lobe epilepsy 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -136751 Simple 554976506 A . Benign/Likely benign 2 2 not specified;Nocturnal frontal lobe epilepsy 2016-06-14 -7.2 2.5 Likely benign 1 -136753 Simple 56344740 T . Benign/Likely benign 2 4 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;not provided;Nocturnal frontal lobe epilepsy 2017-07-26 -16.2 1.5 Benign/Likely benign 0 -136754 Simple 12114756 T . Benign/Likely benign 2 2 not specified;Nocturnal frontal lobe epilepsy 2016-06-14 -7.2 2.5 Likely benign 1 -136756 Simple 201488442 T . Benign 2 2 not specified 2015-03-19 -9.600000000000001 3.0 Benign/Likely benign 1 -136757 Simple 76270730 A . Benign 2 4 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-08-14 -21.6 1.75 Benign/Likely benign 1 -136760 Simple 56069517 A . Benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-06-24 -10.2 2.0 Benign/Likely benign 1 -136761 Simple 199783192 T . Benign/Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-07-31 -7.8 1.5 Likely benign 1 -136762 Simple 45442394 A . Benign 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-08-11 -15.6 2.0 Benign/Likely benign 1 -136764 Simple 45440192 T . Benign 2 1 not specified 2012-05-09 . 5.0 . 0 -136766 Simple 200690355 A . Benign 2 2 not specified 2015-03-19 -9.600000000000001 3.0 Benign/Likely benign 1 -136767 Simple 80075498 C . Benign 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-08-11 -15.0 2.3333333333333335 Benign/Likely benign 1 -136768 Simple 199908363 A . Benign 2 2 not specified 2015-09-22 -9.0 3.5 Benign/Likely benign 1 -136769 Simple 190374968 C . Benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-08-14 -10.2 2.0 Benign/Likely benign 1 -136772 Simple 138886952 G . Benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-07-04 -10.2 2.0 Benign/Likely benign 1 -136782 Simple 150174473 T . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-05-20 -7.2 2.0 Likely benign 1 -136784 Simple 587780895 G . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-11-30 -7.8 2.0 Likely benign 1 -136788 Simple 148248159 A . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-06-27 -13.5 1.6666666666666667 Benign/Likely benign 0 -136789 Simple 148846795 A . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-08-03 -7.2 2.0 Likely benign 1 -136790 Simple 73533466 T . Benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-07-03 -9.6 2.5 Benign/Likely benign 1 -136792 Simple 116531784 A . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-08-01 -12.9 2.0 Benign/Likely benign 0 -136794 Simple 138611001 A . Benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-08-02 -14.4 2.6666666666666665 Benign/Likely benign 1 -136800 Simple 151295143 C . Benign/Likely benign 2 4 Neuronal ceroid lipofuscinosis;not specified 2017-08-01 -18.6 2.0 Benign/Likely benign 0 -136801 Simple 151186473 T . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-04-20 -10.2 1.6666666666666667 Benign/Likely benign 0 -136802 Simple 112239768 T . Benign/Likely benign 2 5 Neuronal ceroid lipofuscinosis;not specified 2017-07-26 -23.1 2.2 Benign/Likely benign 0 -136807 Simple 116605307 A . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-03-20 -12.600000000000001 2.0 Benign/Likely benign 0 -136809 Simple 369675346 T . Benign/Likely benign 2 2 not specified 2016-06-30 -7.2 2.5 Likely benign 1 -136810 Simple 61732854 C . Benign 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-08-14 -9.6 2.5 Benign/Likely benign 1 -136812 Simple 78543192 T . Benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-07-27 -15.6 2.0 Benign/Likely benign 1 -136816 Simple 75858942 C . Benign/Likely benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -136820 Simple 75688908 A . Benign 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2016-10-24 -10.2 2.5 Benign/Likely benign 1 -136822 Simple 112483670 T . Benign/Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-08-01 -15.0 2.0 Benign/Likely benign 0 -136823 Simple 143226012 G . Benign/Likely benign 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2016-11-27 -7.2 2.5 Likely benign 1 -136828 Simple 77789547 A . Benign/Likely benign 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2016-10-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -136840 Simple 28763875 T . Benign 2 1 not specified 2014-02-02 . 4.0 . 0 -136841 Simple 10166835 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 4;not specified 2017-06-08 -13.2 1.6666666666666667 Benign/Likely benign 0 -136843 Simple 41272837 T . Benign 2 4 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-04 -21.0 2.0 Benign/Likely benign 1 -136844 Simple 80302667 C . Benign 2 4 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-25 -21.0 2.0 Benign/Likely benign 1 -136845 Simple 35795890 A . Benign/Likely benign 2 6 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-18 -29.4 1.8333333333333333 Benign 1 -136846 Simple 28413125 G . Benign 2 1 not specified 2012-10-13 . 5.0 . 0 -136847 Simple 7579815 C . Benign 2 3 Ehlers-Danlos syndrome, type 4;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -136848 Simple 7579903 A . Benign 2 4 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -136849 Simple 41263757 C . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 4;not specified 2017-08-08 -18.6 1.75 Benign/Likely benign 0 -136850 Simple 184223621 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 4;not specified 2017-03-20 -19.8 1.25 Benign/Likely benign 0 -136851 Simple 13306272 T . Benign 2 3 Ehlers-Danlos syndrome, type 4;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -136853 Simple 1801184 C . Benign 2 6 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2016-11-03 -31.2 2.3333333333333335 Benign 0 -136855 Simple 41264443 G . Benign 2 1 not specified 2014-03-02 . 4.0 . 0 -136856 Simple 2271683 G . Benign 2 4 Ehlers-Danlos syndrome, type 4;not specified 2017-07-31 -22.2 1.5 Benign/Likely benign 1 -136857 Simple 184402915 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-10-12 -16.8 1.0 Benign/Likely benign 0 -136858 Simple 1516446 T . Benign 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-05-16 -10.2 2.0 Benign/Likely benign 1 -136859 Simple 151173863 T . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-10 -10.2 2.0 Benign/Likely benign 1 -136860 Simple 61737941 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-06-12 -13.8 1.3333333333333333 Benign/Likely benign 0 -136861 Simple 62574081 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -136862 Simple 12685946 G . Benign 2 1 not specified 2012-11-02 . 5.0 . 0 -136863 Simple 79195626 G . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-03 -13.2 1.6666666666666667 Benign/Likely benign 0 -136864 Simple 181246690 T . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-01-31 -10.2 2.5 Benign/Likely benign 1 -136866 Simple 3124932 T . Benign 2 1 not specified 2012-11-02 . 5.0 . 0 -136867 Simple 148648778 T . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-06 -10.2 2.0 Benign/Likely benign 1 -136868 Simple 145429817 G . Benign 2 1 not specified 2013-10-21 . 4.0 . 0 -136869 Simple 41310207 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-03 -12.6 2.0 Benign/Likely benign 0 -136870 Simple 79481146 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -136871 Simple 75815945 C . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-27 -18.6 1.75 Benign/Likely benign 0 -136873 Simple 75668257 A . Benign 2 1 not specified 2014-01-12 . 4.0 . 0 -136874 Simple 73664144 A . Benign 2 1 not specified 2014-03-26 . 3.0 . 0 -136875 Simple 61736966 G . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-02 -19.2 1.5 Benign/Likely benign 0 -136876 Simple 78511105 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-09 -12.6 2.0 Benign/Likely benign 0 -136877 Simple 4240707 T . Benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -136878 Simple 528913410 C . Benign/Likely benign 2 1 not specified 2014-03-01 . 4.0 . 0 -136879 Simple 550497696 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-25 -12.9 2.0 Benign/Likely benign 0 -136881 Simple 45556931 A . Benign 2 1 not specified 2012-11-13 . 5.0 . 0 -136882 Simple 139544503 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-19 -15.9 1.5 Benign/Likely benign 0 -136885 Simple 148053413 A . Benign/Likely benign 2 1 not specified 2014-03-01 . 4.0 . 0 -136887 Simple 61737906 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-05-30 -13.2 1.6666666666666667 Benign/Likely benign 0 -136889 Simple 3827848 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 7A;not specified 2017-06-19 -12.6 2.0 Benign/Likely benign 0 -136890 Simple 61739195 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-28 -17.4 2.25 Benign/Likely benign 0 -136891 Simple 10858282 G . Benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -136892 Simple 142248898 T . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-20 -21.0 1.8 Benign/Likely benign 0 -136893 Simple 77176843 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-28 -18.0 2.0 Benign/Likely benign 0 -136894 Simple 188473199 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -136895 Simple 368551709 T . Benign/Likely benign 2 1 not specified 2014-05-14 . 3.0 . 0 -136896 Simple 141152269 T . Benign 2 1 not specified 2013-10-21 . 4.0 . 0 -136897 Simple 11792181 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -136898 Simple 41310953 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-26 -13.2 1.6666666666666667 Benign/Likely benign 0 -136899 Simple 2228560 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-04 -17.4 2.25 Benign/Likely benign 0 -136900 Simple 2228560 C . Benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -136901 Simple 2228559 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-04 -12.6 2.0 Benign/Likely benign 0 -136902 Simple 149959668 C . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-24 -24.6 1.6 Benign 1 -136904 Simple 113090154 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-05-12 -18.6 1.5 Benign/Likely benign 0 -136905 Simple 112712705 T . Benign 2 1 not specified 2013-04-15 . 4.0 . 0 -136906 Simple 148006741 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2016-07-01 -9.9 2.3333333333333335 Benign/Likely benign 0 -136907 Simple 112600748 G . Benign 2 1 not specified 2013-04-15 . 4.0 . 0 -136908 Simple 113256540 C . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-06-19 -13.2 1.6666666666666667 Benign/Likely benign 0 -136909 Simple 191758714 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -136910 Simple 183495554 C . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -136911 Simple 61729558 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-06 -18.0 2.0 Benign/Likely benign 0 -136912 Simple 61729481 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-31 -18.0 2.0 Benign/Likely benign 0 -136913 Simple 200348547 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-02-21 -7.2 2.5 Likely benign 1 -136914 Simple 2229817 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-04 -18.0 2.0 Benign/Likely benign 0 -136915 Simple 61729495 A . Benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-24 -15.0 2.3333333333333335 Benign/Likely benign 1 -136917 Simple 151293601 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -136918 Simple 145178917 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-24 -19.2 1.5 Benign/Likely benign 0 -136919 Simple 116715381 T . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-02-10 -21.6 2.0 Benign/Likely benign 0 -136920 Simple 138579182 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-07 -18.6 1.75 Benign/Likely benign 0 -136921 Simple 374979485 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 7A;not specified 2017-06-01 -13.2 1.6666666666666667 Benign/Likely benign 0 -136922 Simple 3124299 T . Benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -136924 Simple 150200872 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -136926 Simple 61737708 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-06-12 -13.8 1.3333333333333333 Benign/Likely benign 0 -136927 Simple 41306391 T . Benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-03 -15.6 2.0 Benign/Likely benign 1 -136929 Simple 145620416 G . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-25 -13.2 1.6666666666666667 Benign/Likely benign 0 -136930 Simple 61729545 A . Benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-16 -16.2 1.6666666666666667 Benign/Likely benign 1 -136931 Simple 3128612 C . Benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -136932 Simple 144344474 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-25 -13.8 1.3333333333333333 Benign/Likely benign 0 -136933 Simple 73978832 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-27 -12.6 2.0 Benign/Likely benign 0 -136934 Simple 148786600 G . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-11 -18.6 1.75 Benign/Likely benign 0 -136935 Simple 76148000 G . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-07 -23.400000000000002 2.0 Benign/Likely benign 0 -136936 Simple 75486409 G . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -136937 Simple 148229627 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-27 -7.2 2.0 Likely benign 1 -136938 Simple 2229495 T . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-29 -9.6 2.5 Benign/Likely benign 1 -136939 Simple 35830636 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-02 -18.6 1.5 Benign/Likely benign 0 -136940 Simple 115570272 A . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-14 -24.6 1.4 Benign 1 -136941 Simple 35852101 G . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-27 -18.0 2.0 Benign/Likely benign 0 -136942 Simple 189970491 C . Benign 2 1 not specified 2013-02-25 . 5.0 . 0 -136943 Simple 141571092 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-16 -13.2 1.6666666666666667 Benign/Likely benign 0 -136944 Simple 116298748 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-27 -18.0 2.0 Benign/Likely benign 0 -136945 Simple 142429770 C . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -136946 Simple 148430780 A . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-07 -21.3 1.8 Benign/Likely benign 0 -136947 Simple 79623676 T . Benign 2 1 not specified 2013-04-01 . 4.0 . 0 -136948 Simple 6434313 G . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-04-11 -10.2 2.0 Benign/Likely benign 1 -136949 Simple 75542756 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-24 -13.2 1.6666666666666667 Benign/Likely benign 0 -136951 Simple 6434312 A . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-08-04 -9.6 2.5 Benign/Likely benign 1 -136952 Simple 62184175 C . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -136953 Simple 10197596 G . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -136954 Simple 10208525 G . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -136955 Simple 148795690 G . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-09 -9.9 2.0 Benign/Likely benign 0 -136957 Simple 146100075 C . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -15.9 1.75 Benign/Likely benign 0 -136959 Simple 78905646 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-27 -12.6 2.0 Benign/Likely benign 0 -136960 Simple 117917418 C . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -136961 Simple 76511879 G . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-24 -18.0 2.0 Benign/Likely benign 0 -136962 Simple 142388534 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-19 -10.2 2.0 Benign/Likely benign 0 -136963 Simple 142044596 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-31 -13.2 1.6666666666666667 Benign/Likely benign 0 -136964 Simple 4128539 G . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-29 -9.6 2.5 Benign/Likely benign 1 -136966 Simple 183260194 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -136967 Simple 114102476 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -136968 Simple 148220961 A . Benign 2 1 not specified 2012-11-29 . 5.0 . 0 -136969 Simple 117085226 T . Benign 2 1 not specified 2013-05-14 . 4.0 . 0 -136970 Simple 58106884 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -136971 Simple 56310996 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -136972 Simple 144913206 C . Benign/Likely benign 2 2 not specified;not provided 2016-07-11 -7.8 2.0 Likely benign 1 -136973 Simple 150295921 C . Benign/Likely benign 2 2 not specified;not provided 2016-07-11 -7.2 2.5 Likely benign 1 -136977 Simple 112033303 G . Benign/Likely benign 2 1 not specified 2014-05-06 . 3.0 . 0 -136978 Simple 112033303 A . Benign/Likely benign 2 3 not specified 2016-03-29 -9.3 2.6666666666666665 Benign/Likely benign 0 -136980 Simple 368507578 A . Benign 2 1 not specified 2013-10-28 . 4.0 . 0 -136995 Simple 2230354 G . Benign 2 3 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -136998 Simple 200573622 A . Benign/Likely benign 2 3 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -137001 Simple 2230355 A . Benign/Likely benign 2 3 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -137003 Simple 2159132 A . Benign 2 3 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -137004 Simple 16948978 T . Benign/Likely benign 2 3 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -137005 Simple 8076787 T . Benign/Likely benign 2 3 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -137006 Simple 2230351 T . Benign/Likely benign 2 3 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -137007 Simple 16948986 G . Benign/Likely benign 2 3 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -137009 Simple 2072279 A . Benign 2 3 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -137010 Simple 114521946 T . Benign/Likely benign 2 2 not specified;not provided 2015-08-19 -7.5 2.5 Likely benign 1 -137013 Simple 542092025 T . Benign/Likely benign 2 2 not specified;not provided 2016-09-20 -6.0 3.5 Likely benign 1 -137022 Simple 7991 T . Benign/Likely benign 2 2 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -6.0 3.5 Likely benign 1 -137023 Simple 2287600 T . Benign 2 2 Congenital hyperammonemia, type I;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137024 Simple 75395645 T . Benign/Likely benign 2 3 Congenital hyperammonemia, type I;not specified 2017-03-16 -13.8 1.3333333333333333 Benign/Likely benign 0 -137025 Simple 116664530 G . Benign 2 1 not specified 2013-07-25 . 4.0 . 0 -137027 Simple 2228502 A . Benign 2 2 Carnitine palmitoyl transferase 1 deficiency;not specified 2017-08-04 -10.2 2.0 Benign/Likely benign 1 -137028 Simple 75939866 T . Benign 2 2 Carnitine palmitoyltransferase II deficiency;not specified 2017-08-04 -10.2 2.0 Benign/Likely benign 1 -137029 Simple 76764016 A . Benign 2 2 Atrioventricular septal defect 2;not specified 2017-05-25 -10.8 1.5 Benign/Likely benign 1 -137031 Simple 73118372 C . Benign 2 2 Atrioventricular septal defect 2;not specified 2017-07-03 -10.2 2.0 Benign/Likely benign 1 -137033 Simple 279552 A . Benign 2 2 Atrioventricular septal defect 2;not specified 2017-07-10 -10.2 2.0 Benign/Likely benign 1 -137034 Simple 79223485 T . Benign 2 2 Atrioventricular septal defect 2;not specified 2017-05-10 -9.6 2.5 Benign/Likely benign 1 -137035 Simple 112848043 T . Benign 2 2 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified 2017-02-20 -10.8 2.0 Benign/Likely benign 1 -137038 Simple 200047861 G . Benign 2 1 not specified 2013-04-05 . 4.0 . 0 -137039 Simple 112021026 T . Benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-07-28 -16.2 1.6666666666666667 Benign/Likely benign 1 -137041 Simple 78306946 A . Benign/Likely benign 2 4 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-08-11 -18.6 1.5 Benign/Likely benign 0 -137042 Simple 374010531 T . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-03-25 -9.6 2.0 Benign/Likely benign 0 -137044 Simple 138940129 T . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-07-19 -7.2 2.0 Likely benign 1 -137050 Simple 147641822 A . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-09-25 -7.8 2.0 Likely benign 1 -137054 Simple 7126177 A . Benign 2 1 not specified 2012-03-06 . 5.0 . 0 -137064 Simple 700519 A . Benign/Likely benign 2 2 Aromatase deficiency;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137065 Simple 73037062 C . Benign/Likely benign 2 2 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137070 Simple 9425753 G . Benign 2 2 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137072 Simple 140326200 C . Benign/Likely benign 2 2 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137075 Simple 41300676 A . Benign 2 3 Severe combined immunodeficiency with sensitivity to ionizing radiation;not specified 2017-06-03 -15.0 2.3333333333333335 Benign/Likely benign 1 -137077 Simple 138677215 A . Benign/Likely benign 2 5 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Cardiovascular phenotype 2017-05-22 -22.5 2.4 Benign/Likely benign 0 -137079 Simple 149202009 T . Benign/Likely benign 2 1 not specified 2013-03-19 . 4.0 . 0 -137080 Simple 62641680 A . Benign/Likely benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -6.0 3.5 Likely benign 1 -137081 Simple 1804599 A . Benign/Likely benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -6.0 3.5 Likely benign 1 -137083 Simple 4777 T . Benign 2 3 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -137084 Simple 10186730 A . Benign/Likely benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -6.0 3.5 Likely benign 1 -137085 Simple 150145390 A . Benign/Likely benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137089 Simple 143107853 G . Benign/Likely benign 2 2 not specified 2016-04-21 -6.6 3.0 Likely benign 1 -137090 Simple 11553595 G . Benign/Likely benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -137091 Simple 34680691 T . Benign/Likely benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -137094 Simple 10263341 C . Benign/Likely benign 2 5 Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;Leigh syndrome;not specified 2016-06-14 -25.8 2.4 Benign 1 -137096 Simple 75123588 A . Benign/Likely benign 2 4 Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;Leigh syndrome;not specified 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -137097 Simple 80111449 A . Benign/Likely benign 2 4 Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;Leigh syndrome;not specified 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -137100 Simple 1803921 T . Benign/Likely benign 2 4 Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;Leigh syndrome;not specified 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -137102 Simple 8721 T . Benign 2 4 Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;Leigh syndrome;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -137105 Simple 1800275 T . Benign 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified 2017-08-21 -22.2 1.25 Benign/Likely benign 1 -137106 Simple 1800280 C . Benign 2 3 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified 2017-08-09 -16.2 1.3333333333333333 Benign/Likely benign 1 -137116 Simple 183120304 T . Benign 2 2 not specified 2016-02-24 -10.2 2.5 Benign/Likely benign 1 -137117 Simple 228406 T . Benign 2 3 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified 2017-08-21 -16.2 1.3333333333333333 Benign/Likely benign 1 -137121 Simple 17850540 G . Benign 2 2 3-methylglutaconic aciduria type V;not specified 2017-06-30 -10.2 2.0 Benign/Likely benign 1 -137123 Simple 2295436 T . Benign 2 1 not specified 2013-12-02 . 4.0 . 0 -137124 Simple 78457562 T . Benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137126 Simple 118169466 T . Benign/Likely benign 2 2 not specified;Lethal Encephalopathy 2016-06-14 -7.8 2.0 Likely benign 1 -137127 Simple 79393011 G . Benign/Likely benign 2 2 not specified;Lethal Encephalopathy 2016-06-14 -7.2 2.5 Likely benign 1 -137128 Simple 148634653 T . Benign/Likely benign 2 2 not specified;Lethal Encephalopathy 2016-06-14 -6.6 3.0 Likely benign 1 -137129 Simple 114505859 T . Benign 2 2 not specified;Lethal Encephalopathy 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137130 Simple 148790687 T . Benign/Likely benign 2 5 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-25 -18.0 1.8 Benign/Likely benign 0 -137131 Simple 112238216 T . Benign/Likely benign 2 6 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-08-09 -24.0 2.5 Benign 1 -137132 Simple 61750053 T . Benign/Likely benign 2 3 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-07-25 -13.2 1.6666666666666667 Benign/Likely benign 0 -137133 Simple 2228612 C . Benign 2 3 not specified;Dementia, Deafness, and Sensory Neuropathy 2016-06-14 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -137134 Simple 2228613 T . Benign 2 2 not specified;Dementia, Deafness, and Sensory Neuropathy 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -137135 Simple 10972587 C . Benign 2 3 not specified;Hyper-IgE syndrome 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -137136 Simple 17673268 T . Benign/Likely benign 2 3 not specified;Hyper-IgE syndrome 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137137 Simple 913703 G . Benign 2 3 not specified;Hyper-IgE syndrome 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -137138 Simple 12348944 T . Benign/Likely benign 2 4 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2017-07-27 -17.4 2.25 Benign/Likely benign 0 -137139 Simple 10814431 C . Benign 2 3 not specified;Hyper-IgE syndrome 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -137141 Simple 2297075 T . Benign 2 3 not specified;Hyper-IgE syndrome 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -137142 Simple 7034926 C . Benign/Likely benign 2 4 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2017-07-31 -17.4 2.25 Benign/Likely benign 0 -137143 Simple 73382631 G . Benign/Likely benign 2 4 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2017-07-07 -17.4 2.25 Benign/Likely benign 0 -137144 Simple 34627722 A . Benign/Likely benign 2 4 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2017-08-11 -17.4 2.25 Benign/Likely benign 0 -137147 Simple 77399114 G . Benign/Likely benign 2 4 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;not provided;Hyper-IgE syndrome 2017-07-19 -19.2 1.5 Benign/Likely benign 0 -137149 Simple 111535933 G . Benign/Likely benign 2 3 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2017-08-21 -13.2 1.6666666666666667 Benign/Likely benign 0 -137152 Simple 10124592 T . Benign/Likely benign 2 2 not specified;Hyper-IgE syndrome 2016-06-14 -7.8 2.0 Likely benign 1 -137153 Simple 10491684 A . Benign/Likely benign 2 3 not specified;Hyper-IgE syndrome 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137154 Simple 34908836 C . Benign/Likely benign 2 3 not specified;Hyper-IgE syndrome 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137155 Simple 506121 T . Benign 2 4 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -137156 Simple 3209441 A . Benign/Likely benign 2 3 not specified;Hyper-IgE syndrome 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137157 Simple 2039045 C . Benign 2 3 not specified;Hyper-IgE syndrome 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -137164 Simple 587780928 T . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype 2016-07-27 -10.5 2.0 Benign/Likely benign 0 -137165 Simple 113591687 G . Benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-07-07 -10.2 2.0 Benign/Likely benign 1 -137167 Simple 10484326 C . Benign 2 1 not specified 2013-03-20 . 4.0 . 0 -137170 Simple 144748036 A . Benign/Likely benign 2 4 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-04-10 -16.2 1.75 Benign/Likely benign 0 -137171 Simple 141227126 T . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;not provided;Cardiomyopathy, ARVC 2017-07-21 -24.9 1.5714285714285714 Benign 1 -137172 Simple 28763970 T . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-06-22 -24.9 1.4285714285714286 Benign 1 -137173 Simple 28763971 G . Benign/Likely benign 2 10 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-18 -39.300000000000004 1.9 Benign 1 -137178 Simple 541157 C . Benign 2 1 not specified 2014-01-08 . 4.0 . 0 -137181 Simple 9944927 A . Benign 2 2 not specified 2013-11-22 -8.4 4.0 Benign/Likely benign 1 -137182 Simple 2749894 T . Benign 2 1 not specified 2013-12-30 . 4.0 . 0 -137183 Simple 2073951 C . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137185 Simple 2072061 A . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137186 Simple 6497671 C . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137187 Simple 137973249 G . Benign/Likely benign 2 2 not specified;not provided 2017-06-12 -7.8 1.5 Likely benign 1 -137190 Simple 113722817 C . Benign/Likely benign 2 2 not specified;not provided 2016-09-15 -7.8 2.0 Likely benign 1 -137191 Simple 7187920 T . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137194 Simple 145367062 G . Benign 2 2 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-05-17 -9.6 2.5 Benign/Likely benign 1 -137195 Simple 505760 A . Benign/Likely benign 2 3 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified;not provided 2017-04-29 -13.2 1.6666666666666667 Benign/Likely benign 0 -137197 Simple 35648306 T . Benign 2 2 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-08-01 -9.6 2.5 Benign/Likely benign 1 -137199 Simple 17216649 A . Benign 2 1 not specified 2016-06-20 . 1.0 . 0 -137200 Simple 17216649 T . Benign/Likely benign 2 2 not specified 2016-02-25 -6.9 3.0 Likely benign 1 -137201 Simple 17216656 A . Benign/Likely benign 2 2 not specified 2017-02-21 -6.6 3.0 Likely benign 1 -137202 Simple 17216670 T . Benign/Likely benign 2 3 not specified 2016-08-27 -13.2 2.0 Benign/Likely benign 0 -137203 Simple 17216614 A . Benign 2 1 not specified 2013-01-19 . 5.0 . 0 -137204 Simple 148594713 G . Benign/Likely benign 2 3 not specified;Stargardt Disease, Dominant 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -137205 Simple 148919174 G . Benign/Likely benign 2 3 not specified;not provided;Stargardt Disease, Dominant 2017-04-24 -9.0 2.3333333333333335 Benign/Likely benign 0 -137206 Simple 3812153 C . Benign 2 3 not specified;Stargardt Disease, Dominant 2016-06-14 -13.2 3.6666666666666665 Benign/Likely benign 1 -137208 Simple 11545664 T . Benign/Likely benign 2 5 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2016-06-14 -19.8 2.4 Benign/Likely benign 0 -137209 Simple 3739817 A . Benign/Likely benign 2 5 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2016-09-09 -19.8 2.4 Benign/Likely benign 0 -137210 Simple 36092484 A . Benign/Likely benign 2 6 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2017-08-17 -26.4 1.8333333333333333 Benign 1 -137212 Simple 1874198 C . Benign 2 2 not specified 2016-09-15 -10.2 2.5 Benign/Likely benign 1 -137213 Simple 138718438 A . Benign/Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-07 -12.0 3.3333333333333335 Benign/Likely benign 0 -137216 Simple 116429842 A . Benign/Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-05 -17.4 2.25 Benign/Likely benign 0 -137219 Simple 142027344 G . Benign/Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2017-03-28 -7.8 1.5 Likely benign 1 -137220 Simple 141361861 G . Benign 2 3 Progressive myoclonic epilepsy;not specified 2017-07-13 -15.0 2.3333333333333335 Benign/Likely benign 1 -137221 Simple 7771112 T . Benign 2 2 not specified 2016-05-26 -9.6 3.0 Benign/Likely benign 1 -137229 Simple 140608276 T . Benign 2 2 not specified;not provided 2015-08-19 -9.600000000000001 3.0 Benign/Likely benign 1 -137230 Simple 114985874 A . Benign 2 2 not specified 2014-01-17 -8.4 4.0 Benign/Likely benign 1 -137235 Simple 77484245 C . Benign/Likely benign 2 3 Glutaric aciduria, type 2;not specified 2017-07-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -137236 Simple 11931339 T . Benign/Likely benign 2 2 Glutaric aciduria, type 2;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -137240 Simple 116440799 A . Benign/Likely benign 2 4 Ethylmalonic encephalopathy;not specified;not provided 2016-09-12 -16.5 1.75 Benign/Likely benign 0 -137241 Simple 17404123 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -137256 Simple 9353806 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -137257 Simple 201580493 T . Benign/Likely benign 2 2 not specified 2014-06-17 -5.4 4.5 Likely benign 1 -137259 Simple 66462731 A . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -137260 Simple 112609906 T . Benign 2 2 not specified 2014-06-17 -7.8 4.5 Likely benign 2 -137261 Simple 12193967 A . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -137262 Simple 974110 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -137263 Simple 1936439 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -137265 Simple 61753610 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -137266 Simple 9345601 A . Benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -137267 Simple 9342464 T . Benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -137268 Simple 17411795 A . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 3.6666666666666665 Benign/Likely benign 0 -137269 Simple 45628235 A . Benign/Likely benign 2 2 not provided;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -137273 Simple 41277434 C . Benign 2 4 Weaver syndrome;not specified 2016-06-14 -19.2 3.0 Benign/Likely benign 1 -137274 Simple 16868675 G . Benign 2 3 Hereditary sensory and autonomic neuropathy type IIB;Hereditary sensory and autonomic neuropathy type II;not specified 2017-08-07 -16.8 1.3333333333333333 Benign/Likely benign 1 -137275 Simple 150647141 A . Benign/Likely benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -9.9 2.0 Benign/Likely benign 0 -137278 Simple 34671520 T . Benign/Likely benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -13.2 1.6666666666666667 Benign/Likely benign 0 -137281 Simple 587780939 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-08-26 -7.8 2.0 Likely benign 1 -137284 Simple 79722116 T . Benign/Likely benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -13.2 1.6666666666666667 Benign/Likely benign 0 -137285 Simple 56082100 T . Benign/Likely benign 2 4 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-19 -16.2 1.25 Benign/Likely benign 0 -137286 Simple 117175949 A . Benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-01-04 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -137287 Simple 4647414 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137288 Simple 113155624 A . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 14 2017-08-07 -10.8 1.5 Benign/Likely benign 1 -137289 Simple 41302853 T . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 14 2017-08-14 -10.2 2.0 Benign/Likely benign 1 -137290 Simple 17851782 A . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 14 2017-07-27 -7.8 1.5 Likely benign 1 -137291 Simple 116567033 T . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 14 2017-07-26 -10.8 1.5 Benign/Likely benign 1 -137292 Simple 11243011 G . Benign 2 1 not specified 2013-10-16 . 4.0 . 0 -137293 Simple 147727753 C . Benign/Likely benign 2 3 not specified;not provided 2016-10-25 -10.5 2.0 Benign/Likely benign 0 -137298 Simple 116297724 G . Benign/Likely benign 2 2 not specified;not provided 2015-05-06 -6.9 3.0 Likely benign 1 -137299 Simple 75655780 T . Benign/Likely benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-08 -49.8 1.4615384615384615 Benign 1 -137301 Simple 199781948 A . Benign/Likely benign 2 10 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2017-05-09 -34.8 1.1 Benign 1 -137302 Simple 140582 G . Benign/Likely benign 2 10 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-03-09 -34.2 1.2 Benign 1 -137303 Simple 181681840 A . Benign 2 2 not specified 2013-11-01 -8.4 4.0 Benign/Likely benign 1 -137304 Simple 79321504 C . Benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-08 -75.0 1.2307692307692308 Benign 0 -137305 Simple 11853943 T . Benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2017-03-17 -70.2 2.230769230769231 Benign 0 -137306 Simple 140600 G . Benign/Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-08-16 -7.8 2.0 Likely benign 1 -137308 Simple 55840194 C . Benign 2 2 not specified 2016-08-15 -10.2 2.5 Benign/Likely benign 1 -137309 Simple 140650 T . Benign/Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2016-06-14 -28.2 1.3333333333333333 Benign 1 -137311 Simple 61730051 A . Benign/Likely benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-06 -49.8 1.4615384615384615 Benign 1 -137312 Simple 363832 C . Benign 2 2 not specified 2016-08-15 -9.6 3.0 Benign/Likely benign 1 -137313 Simple 148516442 C . Benign/Likely benign 2 12 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-06-19 -44.4 1.4166666666666667 Benign 1 -137314 Simple 25388 A . Benign/Likely benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-21 -46.8 1.5384615384615385 Benign 1 -137315 Simple 201818403 C . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;not specified 2017-05-30 -15.9 1.75 Benign/Likely benign 0 -137316 Simple 28763954 A . Benign/Likely benign 2 7 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -35.4 1.7142857142857142 Benign 1 -137317 Simple 115242287 C . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-27 -18.6 1.75 Benign/Likely benign 0 -137321 Simple 28763949 C . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;not specified 2017-07-25 -19.2 1.5 Benign/Likely benign 0 -137322 Simple 143255082 A . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -23.4 2.0 Benign/Likely benign 0 -137324 Simple 28763945 A . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-20 -18.0 2.0 Benign/Likely benign 0 -137325 Simple 2279582 A . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-13 -22.8 2.2 Benign/Likely benign 0 -137326 Simple 140017238 A . Benign/Likely benign 2 3 Congenital contractural arachnodactyly;not specified 2017-03-28 -13.2 1.6666666666666667 Benign/Likely benign 0 -137329 Simple 79445561 C . Benign/Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137330 Simple 56168072 T . Benign/Likely benign 2 6 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-02 -26.4 2.6666666666666665 Benign 1 -137333 Simple 146662880 A . Benign/Likely benign 2 6 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-09 -24.0 1.8333333333333333 Benign 1 -137334 Simple 10044959 G . Benign/Likely benign 2 3 Congenital contractural arachnodactyly;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -137335 Simple 147040906 A . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-04 -21.3 1.8 Benign/Likely benign 0 -137336 Simple 143907156 A . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified;not provided 2017-06-30 -18.6 1.6 Benign/Likely benign 0 -137339 Simple 183524866 A . Benign/Likely benign 2 1 not specified 2014-03-01 . 4.0 . 0 -137340 Simple 138022198 C . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -23.4 2.0 Benign/Likely benign 0 -137342 Simple 367877964 C . Benign/Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2017-07-25 -7.2 2.0 Likely benign 1 -137343 Simple 10042349 T . Benign 2 3 Congenital contractural arachnodactyly;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -137344 Simple 200608284 T . Benign/Likely benign 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-16 -24.0 1.8 Benign 1 -137345 Simple 56131649 C . Benign 2 3 Congenital contractural arachnodactyly;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -137346 Simple 377742525 A . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;not specified 2017-06-09 -19.2 1.5 Benign/Likely benign 0 -137347 Simple 2042327 T . Benign 2 1 not specified 2012-11-02 . 5.0 . 0 -137350 Simple 140978642 C . Benign 2 2 Congenital contractural arachnodactyly;not specified 2017-03-20 -10.2 2.0 Benign/Likely benign 1 -137353 Simple 138044126 T . Benign/Likely benign 2 3 Congenital contractural arachnodactyly;not specified 2017-06-23 -13.8 1.3333333333333333 Benign/Likely benign 0 -137354 Simple 28763920 A . Benign/Likely benign 2 3 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -12.3 2.3333333333333335 Benign/Likely benign 0 -137355 Simple 185052980 A . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;not specified 2017-08-02 -16.8 1.25 Benign/Likely benign 0 -137357 Simple 34383505 C . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-25 -18.6 1.75 Benign/Likely benign 0 -137358 Simple 117524265 G . Benign/Likely benign 2 7 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified;not provided 2017-08-10 -31.2 1.8571428571428572 Benign 1 -137359 Simple 150087436 T . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -16.2 1.5 Benign/Likely benign 0 -137364 Simple 16910744 A . Benign/Likely benign 2 3 Fructose-biphosphatase deficiency;not specified 2017-06-28 -12.6 2.0 Benign/Likely benign 0 -137366 Simple 148942437 T . Benign 2 1 not specified 2012-11-28 . 5.0 . 0 -137368 Simple 10844253 A . Benign 2 3 not specified;Charcot-Marie-Tooth, Type 4 2017-07-26 -16.2 1.6666666666666667 Benign/Likely benign 1 -137369 Simple 11052110 A . Benign 2 3 not specified;Charcot-Marie-Tooth, Type 4 2017-07-26 -16.2 1.6666666666666667 Benign/Likely benign 1 -137370 Simple 61737760 T . Benign 2 7 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-08-21 -37.2 2.0 Benign 0 -137371 Simple 149241949 A . Benign/Likely benign 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -137372 Simple 2070080 A . Benign 2 6 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-08-14 -33.0 1.6666666666666667 Benign 0 -137373 Simple 10926501 A . Benign 2 6 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-08-14 -33.0 1.6666666666666667 Benign 0 -137374 Simple 56378532 C . Benign/Likely benign 2 5 Amyotrophic lateral sclerosis type 11;Charcot-Marie-Tooth disease, type 4J;Charcot-Marie-Tooth disease, type IV;not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-04-28 -22.8 1.2 Benign/Likely benign 0 -137375 Simple 2295837 T . Benign/Likely benign 2 4 Amyotrophic lateral sclerosis type 11;Charcot-Marie-Tooth disease, type 4J;not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-04-28 -16.8 1.25 Benign/Likely benign 0 -137376 Simple 141040807 T . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type IV;not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-08-04 -22.2 1.4 Benign/Likely benign 0 -137377 Simple 9885672 C . Benign 2 4 not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2016-10-14 -22.2 1.75 Benign/Likely benign 1 -137386 Simple 201488545 T . Benign/Likely benign 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-10 -13.2 1.75 Benign/Likely benign 0 -137387 Simple 145674759 T . Benign/Likely benign 2 2 not specified 2016-05-06 -7.8 2.0 Likely benign 1 -137388 Simple 587780944 T . Likely benign 2 3 Rett syndrome, congenital variant;not specified 2017-06-22 -9.0 0.0 Benign/Likely benign 1 -137390 Simple 375378714 T . Benign/Likely benign 2 4 Rett syndrome, congenital variant;not specified 2017-06-22 -21.0 0.25 Benign/Likely benign 0 -137391 Simple 147154860 A . Benign/Likely benign 2 3 Rett syndrome, congenital variant;not specified 2017-03-28 -9.9 2.0 Benign/Likely benign 0 -137392 Simple 144434028 T . Benign 2 2 not specified 2017-04-28 -10.2 2.0 Benign/Likely benign 1 -137394 Simple 80356380 G . Benign/Likely benign 2 4 Holoprosencephaly sequence;not specified;Holoprosencephaly 2017-06-12 -18.6 1.75 Benign/Likely benign 0 -137395 Simple 2721177 A . Benign 2 3 Holoprosencephaly sequence;not specified 2016-11-10 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -137396 Simple 115750264 A . Benign/Likely benign 2 2 not specified;Holoprosencephaly 2016-06-14 -7.8 2.0 Likely benign 1 -137397 Simple 7833404 T . Benign/Likely benign 2 5 Holoprosencephaly sequence;not specified;Holoprosencephaly 2017-05-02 -25.2 1.4 Benign 1 -137403 Simple 1394205 T . Benign 2 3 Ovarian hyperstimulation syndrome;not specified;Ovarian Dysgenesis 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -137421 Simple 77298346 A . Benign 2 2 Epilepsy, childhood absence 2;Familial febrile seizures 8;not specified 2017-08-01 -9.6 2.5 Benign/Likely benign 1 -137427 Simple 201672465 T . Benign/Likely benign 2 3 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -137434 Simple 144630886 A . Benign/Likely benign 2 2 not specified 2016-01-26 -7.5 2.5 Likely benign 1 -137435 Simple 117884619 T . Benign/Likely benign 2 3 Deficiency of guanidinoacetate methyltransferase;Cerebral creatine deficiency syndrome;not specified 2017-04-20 -12.6 2.0 Benign/Likely benign 0 -137439 Simple 2072236 T . Benign 2 5 Charcot-Marie-Tooth disease type 2D;Distal hereditary motor neuronopathy type 5;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-04-29 -28.8 1.2 Benign 0 -137440 Simple 11553502 C . Benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-08-08 -28.8 1.2 Benign 0 -137441 Simple 75855065 C . Benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-08-08 -28.8 1.2 Benign 0 -137442 Simple 14270 C . Benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-08-08 -28.8 1.2 Benign 0 -137443 Simple 4593 G . Benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-08-08 -28.2 1.4 Benign 0 -137444 Simple 2529438 C . Benign 2 5 Charcot-Marie-Tooth disease type 2D;Distal hereditary motor neuronopathy type 5;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-04-29 -28.8 1.2 Benign 0 -137447 Simple 376686657 A . Benign/Likely benign 2 3 not specified;Cardiomyopathy, dilated, 2b 2017-02-22 -9.9 2.3333333333333335 Benign/Likely benign 0 -137448 Simple 139637606 A . Benign/Likely benign 2 4 not specified;Cardiomyopathy, dilated, 2b 2017-06-28 -16.8 2.75 Benign/Likely benign 0 -137449 Simple 151231277 G . Benign 2 2 Arginine:glycine amidinotransferase deficiency;not specified 2017-08-07 -10.2 2.0 Benign/Likely benign 1 -137451 Simple 550159982 T . Benign/Likely benign 2 2 Arginine:glycine amidinotransferase deficiency;not specified 2017-05-15 -7.2 2.0 Likely benign 1 -137452 Simple 8024550 C . Benign 2 2 Arginine:glycine amidinotransferase deficiency;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -137455 Simple 200107216 C . Benign 2 2 not specified;Epilepsy, progressive myoclonic 8 2017-05-16 -10.2 2.0 Benign/Likely benign 1 -137457 Simple 146219830 T . Benign 2 1 not specified 2013-08-06 . 4.0 . 0 -137458 Simple 113536478 G . Benign 2 2 not specified 2016-03-28 -9.6 3.0 Benign/Likely benign 1 -137464 Simple 34297061 G . Benign/Likely benign 2 3 not specified;not provided;Combined oxidative phosphorylation deficiency 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -137466 Simple 62288347 A . Benign/Likely benign 2 3 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -137469 Simple 28372853 G . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -6.6 3.0 Likely benign 1 -137470 Simple 112860155 T . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -6.6 3.0 Likely benign 1 -137482 Simple 57946868 A . Benign/Likely benign 2 6 Hypoplastic left heart syndrome 1;Oculodentodigital dysplasia, autosomal recessive;Oculodentodigital dysplasia;not specified;Syndactyly 2017-07-09 -31.2 1.5 Benign 1 -137483 Simple 17653265 T . Benign/Likely benign 2 3 Oculodentodigital dysplasia, autosomal recessive;Oculodentodigital dysplasia;not specified 2017-05-27 -13.8 1.3333333333333333 Benign/Likely benign 0 -137484 Simple 79879393 T . Benign 2 1 not specified 2014-05-14 . 3.0 . 0 -137485 Simple 79049330 A . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -137486 Simple 79703713 A . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -137487 Simple 189899 C . Benign 2 2 Progressive myoclonic epilepsy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137488 Simple 12944167 A . Benign/Likely benign 2 5 Progressive myoclonic epilepsy;not specified 2017-08-11 -24.0 1.6 Benign 1 -137490 Simple 61754631 C . Benign 2 2 Wilms tumor 1;not specified 2017-08-17 -10.8 1.5 Benign/Likely benign 1 -137491 Simple 144877595 A . Benign 2 2 Brugada syndrome;not specified 2016-12-27 -9.6 3.0 Benign/Likely benign 1 -137493 Simple 1801257 G . Benign/Likely benign 2 3 not specified 2014-06-12 -11.1 3.6666666666666665 Benign/Likely benign 0 -137494 Simple 74326170 A . Benign 2 2 not specified 2014-05-15 -8.4 4.0 Benign/Likely benign 1 -137495 Simple 17379472 C . Benign/Likely benign 2 2 not specified 2014-02-20 -6.300000000000001 4.0 Likely benign 1 -137496 Simple 75843478 C . Benign 2 2 not specified 2014-03-14 -8.4 4.0 Benign/Likely benign 1 -137502 Simple 1344030 T . Benign 2 1 not specified 2013-01-08 . 5.0 . 0 -137504 Simple 564039694 T . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137505 Simple 143669998 A . Benign/Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -137506 Simple 78241448 A . Benign/Likely benign 2 4 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-02-23 -16.2 2.0 Benign/Likely benign 0 -137507 Simple 9932916 C . Benign 2 1 not specified 2013-10-31 . 4.0 . 0 -137508 Simple 139329447 A . Benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-08-07 -10.8 1.5 Benign/Likely benign 1 -137510 Simple 201444481 G . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137513 Simple 569998469 A . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137514 Simple 12818068 T . Benign/Likely benign 2 2 not specified;Intellectual Disability, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -137515 Simple 77299791 A . Benign 2 2 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-07-11 -10.2 2.0 Benign/Likely benign 1 -137517 Simple 76777620 C . Benign/Likely benign 2 2 not specified;Intellectual Disability, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -137518 Simple 141031272 C . Benign 2 2 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-02-07 -10.8 2.0 Benign/Likely benign 1 -137522 Simple 34225615 T . Benign 2 1 not specified 2014-03-31 . 3.0 . 0 -137524 Simple 16924002 C . Benign/Likely benign 2 2 Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -137525 Simple 35403985 C . Benign/Likely benign 2 2 Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -137526 Simple 61733199 C . Benign/Likely benign 2 3 Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified 2017-08-01 -13.2 1.6666666666666667 Benign/Likely benign 0 -137530 Simple 7954038 A . Benign/Likely benign 2 2 Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -137531 Simple 112236946 G . Benign/Likely benign 2 3 Mitochondrial trifunctional protein deficiency;not specified;LCHAD Deficiency 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -137532 Simple 7572240 A . Benign/Likely benign 2 3 Mitochondrial trifunctional protein deficiency;Trifunctional protein deficiency with myopathy and neuropathy;not specified 2017-07-28 -13.8 1.3333333333333333 Benign/Likely benign 0 -137534 Simple 143687204 C . Benign/Likely benign 2 2 not specified 2016-08-30 -7.8 2.0 Likely benign 1 -137537 Simple 143090627 T . Benign 2 3 not specified 2016-04-07 -14.4 3.0 Benign/Likely benign 1 -137538 Simple 139590882 A . Benign 2 4 Brugada syndrome 8;not specified 2017-06-21 -22.2 1.25 Benign/Likely benign 1 -137539 Simple 12909882 A . Benign 2 2 not specified 2017-05-10 -10.2 2.0 Benign/Likely benign 1 -137541 Simple 117731813 A . Benign 2 4 Brugada syndrome 8;not specified 2017-08-10 -21.6 1.5 Benign/Likely benign 1 -137542 Simple 148398509 C . Benign 2 7 Sick sinus syndrome 2, autosomal dominant;Brugada syndrome 8;Left ventricular noncompaction;not specified 2017-08-08 -39.0 1.1428571428571428 Benign 0 -137543 Simple 142735148 C . Benign 2 4 Brugada syndrome 8;not specified 2017-08-08 -21.6 1.5 Benign/Likely benign 1 -137545 Simple 148709879 A . Benign 2 2 Holocarboxylase synthetase deficiency;not specified 2017-04-15 -10.8 1.5 Benign/Likely benign 1 -137546 Simple 61732507 A . Benign/Likely benign 2 3 Holocarboxylase synthetase deficiency;not specified 2017-08-04 -13.8 1.3333333333333333 Benign/Likely benign 0 -137548 Simple 61732504 A . Benign/Likely benign 2 2 Holocarboxylase synthetase deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137549 Simple 2230182 A . Benign 2 2 Holocarboxylase synthetase deficiency;not specified 2017-04-28 -10.8 1.5 Benign/Likely benign 1 -137550 Simple 61732502 T . Benign/Likely benign 2 2 Holocarboxylase synthetase deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137552 Simple 117476389 G . Benign 2 2 Holocarboxylase synthetase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137553 Simple 557368288 A . Benign/Likely benign 2 2 Holocarboxylase synthetase deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137556 Simple 41294870 A . Benign 2 3 Costello syndrome;not specified;not provided 2016-12-29 -15.0 2.6666666666666665 Benign/Likely benign 1 -137560 Simple 59701865 A . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -137561 Simple 61736612 A . Benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-07-27 -16.2 1.6666666666666667 Benign/Likely benign 1 -137562 Simple 189395138 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-06-27 -13.2 1.6666666666666667 Benign/Likely benign 0 -137563 Simple 41265953 G . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-07-09 -13.2 1.6666666666666667 Benign/Likely benign 0 -137565 Simple 11551346 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-02-06 -13.2 2.0 Benign/Likely benign 0 -137566 Simple 111401572 T . Benign 2 2 not specified;Spastic paraplegia 2017-04-17 -10.2 2.0 Benign/Likely benign 1 -137567 Simple 13165 A . Benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137570 Simple 12340246 A . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137574 Simple 838827 T . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137575 Simple 10979605 T . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137576 Simple 2230791 A . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137577 Simple 2230792 T . Benign/Likely benign 2 3 Familial dysautonomia;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -137578 Simple 2230793 G . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137579 Simple 2230794 C . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137582 Simple 2275495 A . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137583 Simple 2230788 T . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137584 Simple 2275639 G . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137585 Simple 2228141 T . Benign/Likely benign 2 3 not specified;Severe Combined Immune Deficiency 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -137586 Simple 11567763 C . Benign/Likely benign 2 2 not specified;Severe Combined Immune Deficiency 2016-06-14 -6.6 3.0 Likely benign 1 -137587 Simple 11567764 A . Benign/Likely benign 2 3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified;Severe Combined Immune Deficiency 2017-07-25 -12.6 2.0 Benign/Likely benign 0 -137588 Simple 1043388 T . Benign 2 2 not specified 2015-02-20 -9.0 3.5 Benign/Likely benign 1 -137590 Simple 1043390 A . Benign 2 2 not specified 2015-02-20 -9.0 3.5 Benign/Likely benign 1 -137591 Simple 2292195 T . Benign 2 2 not specified 2015-02-20 -9.0 3.5 Benign/Likely benign 1 -137595 Simple 1051419 G . Benign 2 3 Arteriohepatic dysplasia;not specified;Cardiovascular phenotype;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -137596 Simple 3212750 A . Benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;not specified 2017-07-11 -10.8 1.5 Benign/Likely benign 1 -137597 Simple 3212752 C . Benign 2 3 not specified;Severe Combined Immune Deficiency 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -137600 Simple 3212716 G . Benign/Likely benign 2 3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;not specified;Severe Combined Immune Deficiency 2017-07-11 -12.6 2.0 Benign/Likely benign 0 -137601 Simple 3212733 T . Benign 2 2 not specified;Severe Combined Immune Deficiency 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137602 Simple 1883790 A . Benign 2 4 not specified;Cardiovascular phenotype 2016-02-17 -19.8 2.75 Benign/Likely benign 1 -137603 Simple 111987307 C . Benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-04-16 -16.2 1.6666666666666667 Benign/Likely benign 1 -137604 Simple 201197277 A . Benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-05-22 -15.600000000000001 2.0 Benign/Likely benign 1 -137605 Simple 587780956 T . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2015-11-21 -10.2 2.3333333333333335 Benign/Likely benign 0 -137606 Simple 7268512 A . Benign 2 3 not specified;Cardiovascular phenotype 2015-06-19 -15.0 2.6666666666666665 Benign/Likely benign 1 -137607 Simple 3810510 T . Benign 2 4 not specified;Cardiovascular phenotype 2015-06-15 -18.6 3.25 Benign/Likely benign 1 -137608 Simple 116986535 A . Benign 2 4 not specified;Hypertrophic cardiomyopathy 2017-07-28 -21.0 2.0 Benign/Likely benign 1 -137609 Simple 74352869 C . Benign 2 4 not specified;Cardiovascular phenotype 2015-06-18 -19.2 3.0 Benign/Likely benign 1 -137610 Simple 142333841 T . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-05-18 -10.5 1.6666666666666667 Benign/Likely benign 0 -137611 Simple 6093935 G . Benign 2 3 not specified;Cardiovascular phenotype 2015-06-15 -14.4 3.0 Benign/Likely benign 1 -137612 Simple 373544304 T . Benign/Likely benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-05-12 -6.6 2.5 Likely benign 1 -137622 Simple 587777446 T . Pathogenic 2 2 not provided;Aicardi-goutieres syndrome 7 2017-08-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -137635 Simple 56105708 A . Benign/Likely benign 2 6 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-18 -25.2 1.3333333333333333 Benign 1 -137636 Simple 113194608 T . Benign/Likely benign 2 9 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-19 -35.7 1.5555555555555556 Benign 1 -137637 Simple 140818646 A . Benign/Likely benign 2 6 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-12 -25.8 1.1666666666666667 Benign 1 -137659 Simple 180806413 A . Benign 2 2 not specified 2014-03-20 -8.4 4.0 Benign/Likely benign 1 -137660 Simple 80083556 G . Benign/Likely benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -6.0 3.5 Likely benign 1 -137662 Simple 146833395 C . Benign 2 1 not specified 2011-07-11 . 6.0 . 0 -137664 Simple 16956600 T . Benign/Likely benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -6.0 3.5 Likely benign 1 -137665 Simple 3743716 C . Benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -9.0 3.5 Benign/Likely benign 1 -137666 Simple 3743715 C . Benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -9.0 3.5 Benign/Likely benign 1 -137667 Simple 117229729 T . Benign/Likely benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -6.6 3.0 Likely benign 1 -137668 Simple 187517309 A . Benign/Likely benign 2 1 not specified 2013-01-11 . 5.0 . 0 -137672 Simple 2241133 C . Benign 2 2 not specified 2016-02-08 -10.2 2.5 Benign/Likely benign 1 -137678 Simple 61734099 G . Benign/Likely benign 2 3 Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2;not specified;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2017-08-04 -13.2 1.6666666666666667 Benign/Likely benign 0 -137679 Simple 35564486 G . Benign/Likely benign 2 3 Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2;not specified;not provided 2017-07-25 -13.8 1.3333333333333333 Benign/Likely benign 0 -137687 Simple 3729707 T . Benign/Likely benign 2 6 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -18.0 1.8333333333333333 Benign/Likely benign 0 -137691 Simple 1642785 C . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -11.4 1.5 Benign/Likely benign 0 -137692 Simple 17880172 A . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -9.9 2.0 Benign/Likely benign 0 -137693 Simple 113536847 A . Benign 2 2 not specified;Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 2017-07-20 -10.2 2.0 Benign/Likely benign 1 -137694 Simple 77358162 T . Benign/Likely benign 2 3 not specified;Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type);not provided 2017-07-28 -13.2 1.6666666666666667 Benign/Likely benign 0 -137698 Simple 2734715 A . Benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-08-01 -9.6 2.5 Benign/Likely benign 1 -137700 Simple 376868997 A . Benign/Likely benign 2 1 not specified 2013-10-17 . 4.0 . 0 -137701 Simple 112812685 C . Benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-07-26 -10.2 2.0 Benign/Likely benign 1 -137703 Simple 138744051 T . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-07-08 -13.2 1.6666666666666667 Benign/Likely benign 0 -137704 Simple 78970155 T . Benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-08-11 -10.2 2.0 Benign/Likely benign 1 -137705 Simple 200965587 C . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-05-10 -7.2 2.0 Likely benign 1 -137707 Simple 35903915 T . Benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-02-09 -10.2 2.5 Benign/Likely benign 1 -137709 Simple 34012206 A . Benign/Likely benign 2 2 Liver failure acute infantile;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137710 Simple 35338668 T . Benign/Likely benign 2 2 Liver failure acute infantile;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137711 Simple 35772382 T . Benign/Likely benign 2 2 Liver failure acute infantile;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137713 Simple 61737827 T . Benign/Likely benign 2 2 Liver failure acute infantile;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137715 Simple 34591580 A . Benign 2 3 Liver failure acute infantile;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -137716 Simple 34152016 T . Benign/Likely benign 2 3 Liver failure acute infantile;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -137719 Simple 75417986 G . Benign/Likely benign 2 3 Liver failure acute infantile;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -137720 Simple 114302881 G . Benign/Likely benign 2 3 Liver failure acute infantile;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -137721 Simple 2272938 T . Benign/Likely benign 2 3 Liver failure acute infantile;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -137722 Simple 3742034 G . Benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-18 -46.2 1.25 Benign 0 -137723 Simple 1344554 A . Benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-26 -46.2 1.25 Benign 0 -137724 Simple 149541389 A . Benign/Likely benign 2 10 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-08-08 -40.2 1.2 Benign 1 -137725 Simple 3742037 A . Benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-17 -46.8 1.125 Benign 0 -137726 Simple 55728855 T . Benign/Likely benign 2 11 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;not provided;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-25 -39.9 1.1818181818181819 Benign 1 -137727 Simple 114755636 A . Benign/Likely benign 2 3 Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -137729 Simple 371555137 C . Benign/Likely benign 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -12.9 2.0 Benign/Likely benign 0 -137730 Simple 35478675 T . Benign/Likely benign 2 4 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -17.4 2.5 Benign/Likely benign 0 -137734 Simple 28537973 C . Benign/Likely benign 2 2 Tuberous sclerosis syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -137738 Simple 140223009 C . Benign 2 1 not specified 2013-03-01 . 5.0 . 0 -137740 Simple 111244727 T . Benign/Likely benign 2 6 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -26.4 1.8333333333333333 Benign 1 -137741 Simple 143537386 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -12.9 2.0 Benign/Likely benign 0 -137742 Simple 201184637 T . Benign/Likely benign 2 1 not specified 2013-09-25 . 4.0 . 0 -137743 Simple 376275903 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-03-31 -7.8 1.5 Likely benign 1 -137744 Simple 45517267 T . Benign/Likely benign 2 6 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -26.7 1.6666666666666667 Benign 1 -137745 Simple 557648435 A . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -16.2 1.5 Benign/Likely benign 0 -137746 Simple 201878712 T . Benign/Likely benign 2 1 not specified 2013-09-25 . 4.0 . 0 -137747 Simple 371541319 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -12.6 2.3333333333333335 Benign/Likely benign 0 -137748 Simple 45514196 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-05-04 -7.8 1.5 Likely benign 1 -137749 Simple 77899976 A . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137750 Simple 3796329 C . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137751 Simple 17036879 A . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137752 Simple 12495784 A . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137753 Simple 78685815 A . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137754 Simple 11879943 A . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137755 Simple 8074291 A . Benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -137756 Simple 6501818 G . Benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -137757 Simple 56895494 A . Benign/Likely benign 2 1 not specified 2013-10-31 . 4.0 . 0 -137758 Simple 79508780 A . Benign/Likely benign 2 4 Pontoneocerebellar hypoplasia;not specified 2017-06-14 -17.4 2.25 Benign/Likely benign 0 -137759 Simple 62088470 G . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -137760 Simple 11870627 C . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137761 Simple 114694283 A . Benign/Likely benign 2 3 not specified;not provided;Combined oxidative phosphorylation deficiency 2016-06-14 -9.9 2.3333333333333335 Benign/Likely benign 0 -137767 Simple 58517927 A . Benign/Likely benign 2 2 Mitochondrial complex III deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -137768 Simple 60636875 A . Benign/Likely benign 2 3 Mitochondrial complex III deficiency;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137770 Simple 73276077 G . Benign/Likely benign 2 3 Mitochondrial complex III deficiency;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137772 Simple 73276080 A . Benign/Likely benign 2 3 Mitochondrial complex III deficiency;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -137774 Simple 10203085 T . Benign 2 2 not specified 2015-03-04 -9.0 3.5 Benign/Likely benign 1 -137775 Simple 372997298 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-25 -21.0 2.0 Benign/Likely benign 0 -137776 Simple 56812642 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-14 -16.8 2.5 Benign/Likely benign 0 -137779 Simple 587780978 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-15 -7.8 2.0 Likely benign 1 -137787 Simple 56006378 T . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-12 -38.4 1.5 Benign 1 -137791 Simple 113084617 G . Benign 2 2 not specified 2014-04-07 -9.0 3.5 Benign/Likely benign 1 -137793 Simple 57677875 G . Benign 2 1 not specified 2014-04-29 . 3.0 . 0 -137796 Simple 72646807 C . Benign 2 1 not specified 2012-10-31 . 5.0 . 0 -137797 Simple 371730757 A . Benign/Likely benign 2 2 not specified 2014-03-26 -6.9 3.5 Likely benign 1 -137800 Simple 72646865 C . Benign 2 1 not specified 2013-04-29 . 4.0 . 0 -137803 Simple 587780982 G . Benign/Likely benign 2 2 not specified 2014-03-26 -6.9 3.5 Likely benign 1 -137804 Simple 2288571 G . Benign 2 1 not specified 2012-10-31 . 5.0 . 0 -137806 Simple 72646886 C . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-31 -19.2 2.8 Benign/Likely benign 0 -137807 Simple 371344165 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -13.5 1.6666666666666667 Benign/Likely benign 0 -137808 Simple 573877174 G . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-14 -7.8 2.0 Likely benign 1 -137809 Simple 369223412 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-09 -7.2 2.0 Likely benign 1 -137810 Simple 187180708 A . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-25 -16.8 1.3333333333333333 Benign/Likely benign 1 -137814 Simple 368423941 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-17 -9.9 2.0 Benign/Likely benign 0 -137816 Simple 72648274 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -7.8 1.5 Likely benign 1 -137817 Simple 374081262 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-02-06 -14.7 2.8 Benign/Likely benign 0 -137818 Simple 587780985 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -10.5 1.6666666666666667 Benign/Likely benign 0 -137825 Simple 13011633 T . Benign 2 1 not specified 2012-10-25 . 5.0 . 0 -137826 Simple 200875815 G . Benign 2 2 not specified 2013-06-24 -7.800000000000001 4.5 Likely benign 2 -137830 Simple 138313387 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-16 -10.5 1.6666666666666667 Benign/Likely benign 0 -137832 Simple 6433728 T . Benign/Likely benign 2 3 not specified 2014-12-19 -10.2 4.0 Benign/Likely benign 0 -137833 Simple 78535378 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-03 -17.1 2.75 Benign/Likely benign 0 -137834 Simple 72648918 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-28 -16.2 1.75 Benign/Likely benign 0 -137838 Simple 17076 G . Benign 2 1 not specified 2012-10-31 . 5.0 . 0 -137840 Simple 376882041 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-16 -15.6 2.25 Benign/Likely benign 0 -137842 Simple 569860898 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-06-21 -12.6 2.6666666666666665 Benign/Likely benign 0 -137845 Simple 148460010 T . Benign 2 1 not specified 2014-05-07 . 3.0 . 0 -137846 Simple 370266918 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-05-01 -9.3 2.6666666666666665 Benign/Likely benign 0 -137847 Simple 2562837 A . Benign 2 2 not specified 2014-05-21 -9.0 3.5 Benign/Likely benign 1 -137849 Simple 112023543 G . Benign 2 3 not specified;Lissencephaly, Dominant 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -137850 Simple 61730859 T . Benign 2 3 not specified;Lissencephaly, Dominant 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -137854 Simple 2259136 A . Benign 2 3 not specified 2015-10-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -137855 Simple 1054332 A . Benign 2 2 not specified 2014-04-01 -9.6 3.0 Benign/Likely benign 1 -137856 Simple 77191445 T . Benign 2 2 not specified 2014-03-31 -8.4 4.0 Benign/Likely benign 1 -137862 Simple 11542257 A . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -7.8 2.0 Likely benign 1 -137863 Simple 280523 A . Benign/Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -137864 Simple 2304255 T . Benign/Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -137865 Simple 280520 G . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137866 Simple 280518 G . Benign/Likely benign 2 3 Tyrosine kinase 2 deficiency;not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-07-19 -13.8 1.3333333333333333 Benign/Likely benign 0 -137868 Simple 12720299 G . Benign/Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -137869 Simple 34536443 C . Benign/Likely benign 2 3 Tyrosine kinase 2 deficiency;not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-08-11 -13.8 1.3333333333333333 Benign/Likely benign 0 -137870 Simple 34375653 A . Benign 2 1 not specified 2012-02-07 . 6.0 . 0 -137872 Simple 143789597 T . Benign/Likely benign 2 2 not specified;not provided 2017-06-15 -7.8 1.5 Likely benign 1 -137873 Simple 8141558 T . Benign/Likely benign 2 4 Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -137876 Simple 1138404 T . Benign 2 4 Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -137878 Simple 112723255 T . Benign/Likely benign 2 3 Mitochondrial DNA depletion syndrome 1 (MNGIE type);not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -137884 Simple 114056442 C . Benign 2 3 Angelman syndrome;not specified 2017-05-25 -14.4 2.6666666666666665 Benign/Likely benign 1 -137894 Simple 1805049 C . Benign 2 2 not specified 2011-07-05 -6.0 8.0 Likely benign 2 -137895 Simple 6657250 A . Benign 2 2 not specified 2011-07-05 -6.0 8.0 Likely benign 2 -137896 Simple 6689120 C . Benign 2 1 not specified 2011-08-01 . 6.0 . 0 -137898 Simple 2797235 T . Benign 2 2 not specified 2011-07-13 -6.0 8.0 Likely benign 2 -137900 Simple 199507346 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1W;not specified 2016-05-07 -9.9 2.3333333333333335 Benign/Likely benign 0 -137901 Simple 147415627 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1W;not specified;Cardiovascular phenotype 2017-07-16 -15.3 2.25 Benign/Likely benign 0 -137903 Simple 145537824 A . Benign 2 1 not specified 2014-03-27 . 3.0 . 0 -137905 Simple 587780993 T . Benign/Likely benign 2 4 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -12.600000000000001 2.0 Benign/Likely benign 0 -137906 Simple 10423651 T . Benign/Likely benign 2 1 not specified 2013-12-18 . 4.0 . 0 -137909 Simple 11538454 T . Benign/Likely benign 2 4 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-05 -16.8 2.5 Benign/Likely benign 0 -137910 Simple 77898819 T . Benign 2 3 not specified 2014-11-12 -13.8 3.3333333333333335 Benign/Likely benign 1 -137911 Simple 115346085 A . Benign/Likely benign 2 3 not specified 2014-08-04 -10.2 4.0 Benign/Likely benign 0 -137915 Simple 71524361 A . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -13.8 2.75 Benign/Likely benign 0 -137916 Simple 71524362 T . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -13.2 3.0 Benign/Likely benign 0 -137919 Simple 1805070 G . Benign/Likely benign 2 3 not specified;WFS1-Related Spectrum Disorders 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -137920 Simple 71530911 T . Benign 2 3 not specified 2015-02-09 -12.6 4.0 Benign/Likely benign 1 -137922 Simple 11064573 A . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type II;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -137923 Simple 2286006 C . Benign 2 4 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -22.8 1.25 Benign/Likely benign 1 -137924 Simple 2286007 T . Benign 2 5 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -28.8 1.2 Benign 0 -137925 Simple 7300444 T . Benign 2 4 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -22.2 1.5 Benign/Likely benign 1 -137926 Simple 10849577 T . Benign 2 4 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -22.8 1.25 Benign/Likely benign 1 -137927 Simple 11554421 A . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type II;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -137928 Simple 11064518 C . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type II;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -137930 Simple 376598559 C . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -10.2 2.0 Benign/Likely benign 0 -137931 Simple 558977371 T . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -13.8 1.3333333333333333 Benign/Likely benign 0 -137932 Simple 202226401 A . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-02 -10.8 1.6666666666666667 Benign/Likely benign 0 -137935 Simple 35339227 T . Benign/Likely benign 2 3 not specified;Mitochondrial myopathy and sideroblastic anemia;Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -137937 Simple 11539444 A . Benign/Likely benign 2 3 not specified;Mitochondrial myopathy and sideroblastic anemia;Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -137939 Simple 2289918 G . Benign 2 2 not specified;Severe Combined Immune Deficiency 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -137940 Simple 17488834 T . Benign 2 3 not specified;Severe Combined Immune Deficiency 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -137941 Simple 3192177 A . Benign 2 4 not specified;Severe Combined Immune Deficiency 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -137942 Simple 372940559 T . Benign/Likely benign 2 4 Mowat-Wilson syndrome;not specified 2017-05-26 -16.5 1.5 Benign/Likely benign 0 -137943 Simple 150853991 A . Benign/Likely benign 2 3 Mowat-Wilson syndrome;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -137944 Simple 34961586 G . Benign/Likely benign 2 5 Mowat-Wilson syndrome;not specified 2016-08-03 -18.6 2.8 Benign/Likely benign 0 -137947 Simple 145201706 A . Benign/Likely benign 2 2 Mowat-Wilson syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -137948 Simple 201180901 T . Benign/Likely benign 2 3 not specified 2016-06-30 -13.8 1.6666666666666667 Benign/Likely benign 0 -137949 Simple 149964599 G . Benign 2 2 not specified 2014-04-24 -9.0 3.5 Benign/Likely benign 1 -137950 Simple 201567433 G . Benign/Likely benign 2 3 Mowat-Wilson syndrome;not specified 2016-07-31 -12.9 2.3333333333333335 Benign/Likely benign 0 -137954 Simple 572507342 A . Benign/Likely benign 2 3 Mowat-Wilson syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -137957 Simple 116404871 A . Benign/Likely benign 2 2 not specified 2015-03-02 -6.6 3.5 Likely benign 1 -137958 Simple 62637689 C . Benign 2 2 Heterotaxy, visceral, X-linked;not specified 2016-11-18 -10.2 2.5 Benign/Likely benign 1 -137959 Simple 61735159 A . Benign 2 2 Heterotaxy, visceral, X-linked;not specified 2017-07-09 -10.8 1.5 Benign/Likely benign 1 -137960 Simple 140670556 G . Benign 2 4 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype 2017-07-27 -20.4 2.25 Benign/Likely benign 1 -137961 Simple 188888662 T . Benign/Likely benign 2 2 not specified 2015-07-30 -7.5 2.5 Likely benign 1 -137966 Simple 34101027 C . Benign/Likely benign 2 3 Koolen-de Vries syndrome;not specified;Intellectual disability syndrome 2017-08-01 -13.2 1.6666666666666667 Benign/Likely benign 0 -137967 Simple 2277613 T . Benign 2 2 not specified;Intellectual disability syndrome 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -137968 Simple 143653891 A . Benign/Likely benign 2 3 Koolen-de Vries syndrome;not specified;Intellectual disability syndrome 2017-06-30 -13.2 1.6666666666666667 Benign/Likely benign 0 -137969 Simple 149756887 A . Benign/Likely benign 2 3 Koolen-de Vries syndrome;not specified;Intellectual disability syndrome 2017-04-07 -13.2 1.6666666666666667 Benign/Likely benign 0 -137970 Simple 74867664 T . Benign/Likely benign 2 3 Koolen-de Vries syndrome;not specified;Intellectual disability syndrome 2016-06-24 -13.8 1.6666666666666667 Benign/Likely benign 0 -137971 Simple 146848167 A . Benign 2 2 Koolen-de Vries syndrome;not specified 2017-08-14 -10.2 2.0 Benign/Likely benign 1 -137974 Simple 145714368 G . Benign/Likely benign 2 4 Koolen-de Vries syndrome;not specified;not provided;Intellectual disability syndrome 2017-08-11 -15.9 1.75 Benign/Likely benign 0 -137979 Simple 11822977 A . Benign/Likely benign 2 2 Brugada syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -137981 Simple 145588542 C . Benign 2 3 SeSAME syndrome;not specified 2017-06-27 -15.600000000000001 2.0 Benign/Likely benign 1 -137983 Simple 587781006 T . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2016-06-21 -7.2 2.5 Likely benign 1 -137984 Simple 138877244 T . Benign 2 2 Andersen Tawil syndrome;Short QT syndrome 3;not specified 2016-11-26 -10.2 2.5 Benign/Likely benign 1 -137986 Simple 201747514 T . Benign 2 2 Andersen Tawil syndrome;Short QT syndrome 3;not specified 2017-08-11 -9.6 2.5 Benign/Likely benign 1 -137987 Simple 139564374 G . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2016-09-09 -7.2 2.5 Likely benign 1 -137988 Simple 173135 T . Benign 2 5 Andersen Tawil syndrome;short QT syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype 2016-06-14 -26.4 2.2 Benign 0 -137990 Simple 6590357 C . Benign 2 3 Romano-Ward syndrome;not specified;Familial hyperaldosteronism 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -137991 Simple 7118824 G . Benign 2 3 Romano-Ward syndrome;not specified;Familial hyperaldosteronism 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -137992 Simple 7118833 C . Benign 2 3 Romano-Ward syndrome;not specified;Familial hyperaldosteronism 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -137993 Simple 7102584 G . Benign 2 3 Romano-Ward syndrome;not specified;Familial hyperaldosteronism 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -137994 Simple 45516097 T . Benign 2 4 Long QT syndrome;Romano-Ward syndrome;not specified;Familial hyperaldosteronism 2017-07-26 -22.2 1.5 Benign/Likely benign 1 -137995 Simple 4937391 A . Benign 2 3 Romano-Ward syndrome;not specified;Familial hyperaldosteronism 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -137997 Simple 34524779 C . Benign 2 2 Brugada syndrome;not specified 2017-07-18 -10.2 2.0 Benign/Likely benign 1 -137998 Simple 34811413 G . Benign 2 2 Brugada syndrome;not specified 2017-07-18 -10.2 2.0 Benign/Likely benign 1 -138001 Simple 189991547 T . Benign/Likely benign 2 3 Long QT syndrome;not specified 2017-07-25 -9.3 2.3333333333333335 Benign/Likely benign 0 -138004 Simple 371488379 T . Benign/Likely benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-02-09 -27.6 1.625 Benign 1 -138005 Simple 200670744 T . Benign/Likely benign 2 7 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-05-22 -22.2 1.2857142857142858 Benign/Likely benign 0 -138006 Simple 186188610 A . Benign/Likely benign 2 7 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2016-06-14 -24.0 1.7142857142857142 Benign 1 -138007 Simple 139893266 T . Benign/Likely benign 2 4 Long QT syndrome;not specified;Cardiovascular phenotype 2017-06-13 -14.4 2.75 Benign/Likely benign 0 -138010 Simple 587781009 T . Benign/Likely benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-07-12 -23.7 1.75 Benign/Likely benign 0 -138011 Simple 146436765 T . Benign/Likely benign 2 5 Long QT syndrome;not specified;Cardiovascular phenotype 2016-07-19 -17.1 2.8 Benign/Likely benign 0 -138012 Simple 148121889 A . Benign/Likely benign 2 9 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-05-25 -30.9 1.5555555555555556 Benign 1 -138014 Simple 145415996 C . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-01 -10.8 1.5 Benign/Likely benign 1 -138016 Simple 370174915 G . Benign/Likely benign 2 3 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-05-23 -13.2 1.6666666666666667 Benign/Likely benign 0 -138017 Simple 370760854 A . Benign/Likely benign 2 3 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-06-13 -13.2 1.6666666666666667 Benign/Likely benign 0 -138023 Simple 370155790 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-04-06 -13.2 1.6666666666666667 Benign/Likely benign 0 -138024 Simple 141951341 A . Benign/Likely benign 2 3 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-06-23 -12.6 2.0 Benign/Likely benign 0 -138030 Simple 187252584 T . Benign/Likely benign 2 4 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-08-07 -18.0 2.0 Benign/Likely benign 0 -138031 Simple 143016981 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-06-20 -7.8 1.5 Likely benign 1 -138032 Simple 140674819 A . Benign/Likely benign 2 3 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-07-28 -13.8 1.3333333333333333 Benign/Likely benign 0 -138033 Simple 147274045 T . Benign/Likely benign 2 4 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-07-20 -18.6 1.75 Benign/Likely benign 0 -138034 Simple 3810472 T . Benign/Likely benign 2 4 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-05-07 -16.2 1.5 Benign/Likely benign 0 -138036 Simple 577705653 A . Likely benign 2 2 not specified;KCNQ2-Related Disorders 2016-06-14 -5.1 2.5 Likely benign 0 -138037 Simple 182089624 A . Benign/Likely benign 2 2 not specified;KCNQ2-Related Disorders 2016-06-14 -6.6 3.0 Likely benign 1 -138038 Simple 373897282 T . Benign/Likely benign 2 2 not specified;KCNQ2-Related Disorders 2016-06-14 -7.8 2.0 Likely benign 1 -138040 Simple 142144538 A . Benign/Likely benign 2 5 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2017-08-07 -18.9 1.6 Benign/Likely benign 0 -138043 Simple 181790623 C . Benign 2 2 not specified;not provided 2017-08-29 -10.8 1.5 Benign/Likely benign 1 -138046 Simple 78731303 A . Benign 2 3 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures 2017-06-22 -15.0 2.3333333333333335 Benign/Likely benign 1 -138050 Simple 142149782 T . Benign 2 2 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures 2017-07-27 -10.8 1.5 Benign/Likely benign 1 -138051 Simple 114095081 T . Benign/Likely benign 2 4 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2017-07-11 -16.2 1.5 Benign/Likely benign 0 -138052 Simple 145063831 T . Benign/Likely benign 2 3 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -138055 Simple 116630203 T . Benign 2 2 not specified 2016-09-19 -10.2 2.5 Benign/Likely benign 1 -138058 Simple 56847463 G . Benign/Likely benign 2 4 Hereditary sensory and autonomic neuropathy type II;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -138059 Simple 62021460 C . Benign/Likely benign 2 3 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -138060 Simple 372508498 G . Likely benign 3 3 not specified;Rasopathy 2017-04-03 -10.2 2.3333333333333335 Benign/Likely benign 1 -138061 Simple 113623140 A . Likely benign 3 3 not specified;Rasopathy 2017-04-18 -11.1 1.0 Benign/Likely benign 1 -138062 Simple 532564755 T . Benign/Likely benign 2 2 not specified 2014-05-01 -6.3 4.5 Likely benign 1 -138063 Simple 587781013 A . Benign/Likely benign 2 2 not specified 2014-05-01 -6.3 4.5 Likely benign 1 -138066 Simple 149106800 T . Benign/Likely benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-03-10 -9.9 2.3333333333333335 Benign/Likely benign 0 -138067 Simple 9400522 T . Benign 2 2 not specified 2013-11-22 -8.4 4.0 Benign/Likely benign 1 -138071 Simple 149783672 T . Benign/Likely benign 2 2 not specified 2014-07-25 -7.199999999999999 3.0 Likely benign 1 -138075 Simple 16992986 A . Benign/Likely benign 2 3 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -138100 Simple 45516997 T . Benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-07-28 -15.6 2.0 Benign/Likely benign 1 -138101 Simple 372789789 T . Benign/Likely benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-05-03 -12.9 2.3333333333333335 Benign/Likely benign 0 -138102 Simple 121908336 T . Benign/Likely benign 2 2 not specified 2014-11-06 -7.199999999999999 3.0 Likely benign 1 -138103 Simple 587781024 T . Benign/Likely benign 2 4 Myofibrillar myopathy, ZASP-related;not specified 2017-06-13 -18.0 2.25 Benign/Likely benign 0 -138106 Simple 2803558 C . Benign/Likely benign 2 5 Myofibrillar myopathy, ZASP-related;not specified;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -15.0 2.0 Benign/Likely benign 0 -138107 Simple 199979438 T . Benign/Likely benign 2 3 Left-right axis malformations;Heterotaxy syndrome;not specified 2017-06-09 -13.8 1.3333333333333333 Benign/Likely benign 0 -138108 Simple 74578461 C . Benign 2 2 Heterotaxy syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -138109 Simple 149969900 A . Benign/Likely benign 2 3 Left-right axis malformations;Heterotaxy syndrome;not specified 2017-05-16 -13.2 1.6666666666666667 Benign/Likely benign 0 -138110 Simple 2295418 A . Benign/Likely benign 2 3 Left-right axis malformations;Heterotaxy syndrome;not specified 2017-07-19 -12.6 2.0 Benign/Likely benign 0 -138111 Simple 61731738 T . Benign/Likely benign 2 3 Left-right axis malformations;Heterotaxy syndrome;not specified 2017-07-28 -12.6 2.0 Benign/Likely benign 0 -138116 Simple 12470652 C . Benign 2 4 Leydig cell agenesis;Gonadotropin-independent familial sexual precocity;not specified;Hypergonadotropic hypogonadism 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -138118 Simple 61731032 A . Benign 2 2 not specified;Pyruvate dehydrogenase lipoic acid synthetase deficiency 2017-07-31 -10.2 2.0 Benign/Likely benign 1 -138119 Simple 372094616 A . Benign 2 2 not specified;Pyruvate dehydrogenase lipoic acid synthetase deficiency 2017-03-08 -10.2 2.0 Benign/Likely benign 1 -138122 Simple 35086467 G . Benign 2 2 not specified 2017-06-29 -10.2 2.0 Benign/Likely benign 1 -138124 Simple 12648 T . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138127 Simple 143261167 G . Benign 2 2 Majeed syndrome;not specified 2017-07-19 -9.0 3.0 Benign/Likely benign 1 -138133 Simple 61735393 T . Benign/Likely benign 2 5 Majeed syndrome;not specified;not provided 2017-08-07 -21.0 1.6 Benign/Likely benign 0 -138135 Simple 148930095 T . Benign/Likely benign 2 1 not specified 2013-02-14 . 5.0 . 0 -138137 Simple 191749331 A . Benign/Likely benign 2 2 Majeed syndrome;not specified 2017-07-25 -7.2 2.0 Likely benign 1 -138141 Simple 35035668 C . Benign/Likely benign 2 3 Leigh syndrome;not specified;not provided 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -138144 Simple 35881858 A . Benign/Likely benign 2 2 Leigh syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -138145 Simple 139634347 C . Benign/Likely benign 2 2 Leigh syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138148 Simple 114205971 C . Benign/Likely benign 2 3 Leigh syndrome;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -138153 Simple 35113761 A . Benign 2 2 not specified 2015-11-23 -9.0 3.5 Benign/Likely benign 1 -138155 Simple 140749690 T . Likely benign 3 3 not specified;Rasopathy 2017-05-09 -10.2 2.0 Benign/Likely benign 1 -138157 Simple 375701469 T . Benign/Likely benign 2 2 not specified 2015-01-16 -6.6 3.5 Likely benign 1 -138158 Simple 141402203 T . Benign 3 3 not specified;Rasopathy 2017-05-09 -13.8 1.6666666666666667 Benign/Likely benign 1 -138159 Simple 201287884 T . Benign 2 2 not specified;Rasopathy 2017-07-27 -10.8 1.5 Benign/Likely benign 1 -138160 Simple 202086678 G . Benign 2 2 not specified 2013-05-16 -7.800000000000001 4.5 Likely benign 2 -138161 Simple 587781027 T . Benign 3 2 not specified;Rasopathy 2017-05-09 -10.8 2.0 Benign/Likely benign 1 -138165 Simple 189388604 G . Benign 2 1 not specified 2014-03-25 . 3.0 . 0 -138172 Simple 77213206 G . Benign 2 2 Mental retardation, autosomal dominant 1;not specified 2017-04-19 -10.2 2.0 Benign/Likely benign 1 -138175 Simple 114611333 G . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 1;not specified;Intellectual Disability, Dominant 2017-08-07 -13.2 1.6666666666666667 Benign/Likely benign 0 -138177 Simple 115816749 A . Benign 2 3 Mental retardation, autosomal dominant 1;not specified 2017-08-14 -15.600000000000001 2.0 Benign/Likely benign 1 -138178 Simple 115940994 G . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 1;not specified;not provided 2017-06-05 -13.8 1.3333333333333333 Benign/Likely benign 0 -138182 Simple 11541017 A . Benign 2 2 Methylmalonic acidemia;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138183 Simple 6748672 A . Benign/Likely benign 2 3 Methylmalonic acidemia;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -138184 Simple 2442513 G . Benign 2 2 not specified 2013-12-18 -7.800000000000001 4.5 Likely benign 2 -138185 Simple 17076894 G . Benign/Likely benign 2 3 not specified;not provided 2017-04-27 -11.4 2.6666666666666665 Benign/Likely benign 0 -138186 Simple 61754439 A . Benign 2 4 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-07-19 -21.0 2.0 Benign/Likely benign 1 -138187 Simple 61749714 A . Benign/Likely benign 2 7 Severe neonatal-onset encephalopathy with microcephaly;Rett syndrome;not specified;not provided 2017-06-20 -29.4 2.5714285714285716 Benign 1 -138189 Simple 267608504 T . Benign/Likely benign 2 2 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified 2016-05-18 -7.2 2.5 Likely benign 1 -138191 Simple 61750252 A . Benign 2 5 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified 2016-12-20 -23.4 3.2 Benign/Likely benign 1 -138193 Simple 61752362 C . Benign 2 4 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-07-20 -19.8 2.5 Benign/Likely benign 1 -138194 Simple 201711454 T . Likely benign 2 2 not specified 2017-10-24 -6.0 0.0 Likely benign 0 -138195 Simple 61753014 A . Benign 2 3 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-02-16 -16.2 2.0 Benign/Likely benign 1 -138197 Simple 587781033 T . Benign/Likely benign 2 3 not specified 2017-06-22 -13.2 1.6666666666666667 Benign/Likely benign 0 -138200 Simple 57854058 A . Benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-27 -10.2 2.0 Benign/Likely benign 1 -138202 Simple 587781034 A . Benign/Likely benign 2 2 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;not specified 2016-12-19 -7.8 2.0 Likely benign 1 -138203 Simple 79455305 A . Benign/Likely benign 2 4 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;not specified;Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 2017-07-25 -19.2 1.5 Benign/Likely benign 0 -138204 Simple 149706617 T . Benign/Likely benign 2 2 not specified 2015-08-10 -7.5 2.5 Likely benign 1 -138206 Simple 1231122 C . Benign 2 2 Familial Mediterranean fever;not specified 2017-08-21 -9.0 3.0 Benign/Likely benign 1 -138208 Simple 113314808 T . Benign 2 2 Familial Mediterranean fever;not specified 2017-07-27 -9.0 3.0 Benign/Likely benign 1 -138210 Simple 78814413 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2017-07-25 -16.8 1.25 Benign/Likely benign 0 -138211 Simple 61733205 T . Benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-29 -10.2 2.0 Benign/Likely benign 1 -138212 Simple 41278632 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2017-07-31 -16.2 1.5 Benign/Likely benign 0 -138213 Simple 74052923 A . Benign 2 1 not specified 2014-02-04 . 4.0 . 0 -138214 Simple 114306601 G . Benign/Likely benign 2 3 not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -138215 Simple 1042837 T . Benign/Likely benign 2 3 not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -138217 Simple 142271930 A . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-08-02 -19.2 1.5 Benign/Likely benign 0 -138218 Simple 77262016 C . Benign/Likely benign 2 3 not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -138219 Simple 78841746 A . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2017-07-25 -16.8 1.25 Benign/Likely benign 0 -138220 Simple 77458527 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2017-07-25 -16.8 1.25 Benign/Likely benign 0 -138223 Simple 148291156 C . Benign 2 4 Ceroid lipofuscinosis neuronal 7;not specified 2016-09-15 -20.4 2.5 Benign/Likely benign 1 -138226 Simple 75039907 T . Benign 2 3 Ceroid lipofuscinosis neuronal 7;not specified 2017-05-17 -15.0 2.3333333333333335 Benign/Likely benign 1 -138230 Simple 587781038 G . Benign/Likely benign 2 5 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -18.9 1.8 Benign/Likely benign 0 -138232 Simple 62640903 G . Benign/Likely benign 2 3 Deficiency of malonyl-CoA decarboxylase;not specified 2017-06-29 -13.2 1.6666666666666667 Benign/Likely benign 0 -138234 Simple 138107830 G . Benign/Likely benign 2 2 Deficiency of malonyl-CoA decarboxylase;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138235 Simple 2278038 A . Benign/Likely benign 2 2 Deficiency of malonyl-CoA decarboxylase;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -138236 Simple 4835011 G . Benign/Likely benign 2 2 Methylmalonic acidemia;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138237 Simple 11721553 A . Benign/Likely benign 2 2 Methylmalonic acidemia;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138238 Simple 6662272 C . Benign/Likely benign 2 6 Methylmalonic acidemia with homocystinuria;Disorders of Intracellular Cobalamin Metabolism;not specified;not provided 2017-05-17 -30.6 1.5 Benign 1 -138239 Simple 16832550 T . Benign/Likely benign 2 3 Methylmalonic acidemia with homocystinuria;Disorders of Intracellular Cobalamin Metabolism;not specified 2017-08-04 -13.8 1.3333333333333333 Benign/Likely benign 0 -138242 Simple 16832790 T . Benign 2 8 Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease type 2J;Charcot-Marie-Tooth disease, demyelinating, type 1b;Roussy-Lévy syndrome;Congenital hypomyelinating neuropathy;Charcot-Marie-Tooth disease, type I;not specified;Charcot-Marie-Tooth, Type 1;Charcot-Marie-Tooth, Intermediate 2017-08-09 -46.8 1.0 Benign 0 -138251 Simple 73866065 C . Benign/Likely benign 2 3 not specified;not provided;Combined oxidative phosphorylation deficiency 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -138256 Simple 138143769 T . Benign/Likely benign 2 7 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -30.0 1.4285714285714286 Benign 1 -138257 Simple 587779912 C . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-05 -10.8 1.3333333333333333 Benign/Likely benign 0 -138259 Simple 35389622 G . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -18.6 2.0 Benign/Likely benign 0 -138261 Simple 189672273 A . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-01 -6.9 3.0 Likely benign 1 -138271 Simple 113897932 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 4B1;Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-08-07 -19.8 1.0 Benign/Likely benign 0 -138272 Simple 139510268 A . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2016-06-14 -7.8 2.0 Likely benign 1 -138275 Simple 115654622 C . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 10 2017-07-24 -10.2 2.0 Benign/Likely benign 1 -138276 Simple 147990749 G . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 10 2017-06-08 -10.8 1.5 Benign/Likely benign 1 -138277 Simple 117757245 T . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 10 2017-07-18 -10.2 2.0 Benign/Likely benign 1 -138278 Simple 73452515 G . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 10 2017-07-31 -10.2 2.0 Benign/Likely benign 1 -138279 Simple 114438816 A . Benign 2 1 not specified 2014-02-09 . 4.0 . 0 -138281 Simple 1047988 A . Benign 2 1 not specified 2013-09-06 . 4.0 . 0 -138283 Simple 12070777 A . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138284 Simple 1131449 T . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138285 Simple 3820571 T . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138286 Simple 12022937 C . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138287 Simple 7526063 T . Benign/Likely benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138288 Simple 1770449 C . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138290 Simple 2229276 G . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138292 Simple 2287779 A . Benign/Likely benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138293 Simple 2287780 T . Benign/Likely benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138294 Simple 16879334 G . Benign/Likely benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138296 Simple 35890938 G . Benign 2 2 Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type;not specified 2017-07-24 -10.8 1.5 Benign/Likely benign 1 -138297 Simple 34172797 T . Benign 2 2 Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type;not specified 2017-07-24 -10.8 1.5 Benign/Likely benign 1 -138301 Simple 12347 A . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138302 Simple 1802059 A . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138303 Simple 72716536 C . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138305 Simple 161870 C . Benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138306 Simple 2303080 A . Benign/Likely benign 2 3 Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type;Disorders of Intracellular Cobalamin Metabolism;not specified 2017-07-31 -13.8 1.3333333333333333 Benign/Likely benign 0 -138307 Simple 202240122 A . Benign/Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -12.6 2.0 Benign/Likely benign 0 -138319 Simple 367927327 T . Benign/Likely benign 2 2 not specified 2013-08-15 -5.7 5.5 Likely benign 1 -138327 Simple 2272554 G . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -15.6 3.25 Benign/Likely benign 0 -138328 Simple 880071 A . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -15.6 3.25 Benign/Likely benign 0 -138329 Simple 34287137 A . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-15 -24.0 1.6 Benign 1 -138330 Simple 1050113 A . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -15.6 3.25 Benign/Likely benign 0 -138331 Simple 185697714 C . Benign/Likely benign 2 1 not specified 2013-01-30 . 5.0 . 0 -138333 Simple 34263860 T . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-21 -18.6 1.75 Benign/Likely benign 0 -138334 Simple 16967494 T . Benign/Likely benign 2 6 Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-06-14 -27.6 2.5 Benign 1 -138337 Simple 16967510 G . Benign/Likely benign 2 7 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2017-08-17 -31.8 1.7142857142857142 Benign 1 -138338 Simple 12907 A . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2017-08-22 -24.6 1.6 Benign 1 -138340 Simple 193005461 T . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -138341 Simple 112377790 A . Benign 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-08 -15.600000000000001 2.0 Benign/Likely benign 1 -138342 Simple 2075511 C . Benign/Likely benign 2 5 Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-06-14 -22.8 2.4 Benign/Likely benign 0 -138343 Simple 8046180 A . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2017-08-04 -21.6 1.6 Benign/Likely benign 0 -138344 Simple 76890940 A . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-15 -18.6 1.75 Benign/Likely benign 0 -138345 Simple 35176378 C . Benign 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-18 -15.600000000000001 2.0 Benign/Likely benign 1 -138347 Simple 181115969 T . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-06-14 -15.600000000000001 2.0 Benign/Likely benign 0 -138348 Simple 142108062 A . Benign 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-25 -15.0 2.3333333333333335 Benign/Likely benign 1 -138349 Simple 199564260 A . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-02-22 -12.9 2.0 Benign/Likely benign 0 -138350 Simple 183176702 A . Benign/Likely benign 2 6 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2017-08-18 -26.400000000000002 1.8333333333333333 Benign 1 -138351 Simple 35295469 A . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-16 -18.0 2.0 Benign/Likely benign 0 -138353 Simple 1050162 T . Benign/Likely benign 2 5 Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-06-14 -22.2 2.6 Benign/Likely benign 0 -138354 Simple 1050163 T . Benign/Likely benign 2 5 Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-06-14 -22.2 2.6 Benign/Likely benign 0 -138355 Simple 148691719 G . Benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-08-15 -10.2 2.0 Benign/Likely benign 1 -138356 Simple 28505375 T . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2017-08-22 -24.0 1.8 Benign 1 -138358 Simple 113964173 G . Benign 2 5 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-04 -26.4 2.0 Benign 0 -138359 Simple 149566621 A . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-08 -18.6 1.75 Benign/Likely benign 0 -138362 Simple 112650390 T . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-09 -12.9 1.75 Benign/Likely benign 0 -138363 Simple 28570191 A . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-16 -22.8 2.2 Benign/Likely benign 0 -138365 Simple 78754138 C . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-17 -24.0 1.8 Benign 1 -138366 Simple 1050111 A . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -15.6 3.25 Benign/Likely benign 0 -138367 Simple 199755371 G . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-06-02 -7.2 2.0 Likely benign 1 -138368 Simple 34341838 G . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-18 -21.6 2.6 Benign/Likely benign 0 -138369 Simple 4781689 A . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -15.6 3.25 Benign/Likely benign 0 -138371 Simple 2280764 G . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -138373 Simple 149630866 A . Benign/Likely benign 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2016-05-13 -10.5 2.0 Benign/Likely benign 0 -138375 Simple 368653983 A . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-04-03 -7.2 2.0 Likely benign 1 -138380 Simple 529700838 A . Benign/Likely benign 2 8 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-07-31 -25.2 1.25 Benign 1 -138383 Simple 587781085 A . Benign/Likely benign 2 2 not specified 2015-05-21 -6.9 3.0 Likely benign 1 -138387 Simple 200493975 A . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2016-08-22 -10.5 2.3333333333333335 Benign/Likely benign 0 -138389 Simple 587781087 T . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-07-15 -6.0 3.5 Likely benign 1 -138391 Simple 572672362 T . Benign 3 9 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-15 -35.4 1.2222222222222223 Benign 0 -138394 Simple 587781088 G . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-20 -7.8 1.5 Likely benign 1 -138399 Simple 28645088 T . Benign/Likely benign 2 4 Familial hypertrophic cardiomyopathy 10;not specified;Cardiovascular phenotype 2017-07-28 -15.600000000000001 2.0 Benign/Likely benign 0 -138405 Simple 1887731 C . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-06-14 -7.2 2.5 Likely benign 1 -138415 Simple 145701607 T . Benign 2 4 not specified;Dilated cardiomyopathy 1KK 2017-07-13 -21.6 1.75 Benign/Likely benign 1 -138418 Simple 111965755 T . Benign 2 4 not specified;Dilated cardiomyopathy 1KK 2017-08-04 -19.8 2.5 Benign/Likely benign 1 -138421 Simple 10733838 T . Benign 2 2 not specified;Dilated cardiomyopathy 1KK 2017-08-04 -10.8 1.5 Benign/Likely benign 1 -138422 Simple 12241644 C . Benign 2 3 not specified;Dilated cardiomyopathy 1KK 2017-07-28 -15.6 2.0 Benign/Likely benign 1 -138423 Simple 114479328 A . Benign 2 3 not specified;Dilated cardiomyopathy 1KK 2017-08-04 -15.6 2.0 Benign/Likely benign 1 -138424 Simple 115033934 T . Benign 2 3 not specified;Dilated cardiomyopathy 1KK 2017-08-04 -15.6 2.0 Benign/Likely benign 1 -138425 Simple 556807466 T . Benign/Likely benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -15.600000000000001 1.8 Benign/Likely benign 0 -138427 Simple 72550742 T . Benign/Likely benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -18.9 1.2 Benign/Likely benign 0 -138430 Simple 113493697 T . Benign/Likely benign 2 3 not specified;not provided 2017-06-14 -11.4 2.6666666666666665 Benign/Likely benign 0 -138431 Simple 17283846 T . Benign/Likely benign 2 3 not specified;Lissencephaly, Recessive 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -138432 Simple 11646913 T . Benign 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138433 Simple 2233336 G . Benign 2 3 not specified;Charcot-Marie-Tooth, Type 4 2017-07-12 -16.2 1.6666666666666667 Benign/Likely benign 1 -138434 Simple 2227262 A . Benign/Likely benign 2 3 not specified;Charcot-Marie-Tooth, Type 4 2017-07-12 -13.8 1.3333333333333333 Benign/Likely benign 0 -138435 Simple 140064980 C . Benign 2 2 not specified 2016-01-26 -10.2 2.5 Benign/Likely benign 1 -138437 Simple 35462421 T . Benign/Likely benign 2 2 not specified;not provided 2017-05-11 -7.8 1.5 Likely benign 1 -138440 Simple 113012830 T . Benign/Likely benign 2 4 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -138445 Simple 35672074 C . Benign/Likely benign 2 2 not specified;not provided 2017-10-04 -6.6 2.5 Likely benign 1 -138473 Simple 11548670 G . Benign/Likely benign 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -138475 Simple 10206644 T . Benign/Likely benign 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -138476 Simple 2230890 A . Benign/Likely benign 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -138482 Simple 2230888 A . Benign/Likely benign 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -138494 Simple 11551663 A . Benign/Likely benign 2 4 Deficiency of guanidinoacetate methyltransferase;Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -15.6 2.0 Benign/Likely benign 0 -138498 Simple 2074896 T . Benign/Likely benign 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -138501 Simple 10896187 G . Benign/Likely benign 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -138502 Simple 11227859 C . Benign/Likely benign 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -138509 Simple 71578956 T . Benign 2 3 Primary dilated cardiomyopathy;not specified 2017-08-04 -14.4 2.6666666666666665 Benign/Likely benign 1 -138510 Simple 76347846 G . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 1 2016-06-14 -7.8 2.0 Likely benign 1 -138514 Simple 74637005 A . Benign/Likely benign 2 2 not specified;Multiple mitochondrial dysfunctions syndrome 2016-06-14 -7.2 2.5 Likely benign 1 -138515 Simple 12474866 G . Benign/Likely benign 2 3 Multiple mitochondrial dysfunctions syndrome 1;not specified;Multiple mitochondrial dysfunctions syndrome 2017-08-04 -13.2 1.6666666666666667 Benign/Likely benign 0 -138516 Simple 4453725 T . Benign 2 3 not specified;Multiple mitochondrial dysfunctions syndrome 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -138518 Simple 114846829 A . Benign/Likely benign 2 2 not specified;Multiple mitochondrial dysfunctions syndrome 2016-06-14 -7.8 2.0 Likely benign 1 -138520 Simple 34689457 T . Benign 2 2 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;not specified 2017-08-04 -10.2 2.0 Benign/Likely benign 1 -138521 Simple 6720495 T . Benign 2 2 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;not specified 2017-08-07 -10.2 2.0 Benign/Likely benign 1 -138526 Simple 200082602 T . Benign/Likely benign 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -138528 Simple 3806268 A . Benign 2 5 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-06-14 -30.0 1.0 Benign 0 -138529 Simple 4925543 A . Benign 2 2 not specified;Cryopyrin associated periodic syndrome 2017-08-11 -9.0 3.0 Benign/Likely benign 1 -138530 Simple 143140947 A . Benign/Likely benign 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -138533 Simple 34698071 T . Benign/Likely benign 2 5 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-06-14 -15.3 2.0 Benign/Likely benign 0 -138535 Simple 2525702 T . Benign 2 2 not specified;Premature ovarian failure 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -138536 Simple 1208179 G . Benign/Likely benign 2 2 not specified;Premature ovarian failure 2016-06-14 -7.8 2.0 Likely benign 1 -138537 Simple 113506523 A . Benign 2 2 Oligosynaptic infertility;46,XY sex reversal, type 3;not specified 2017-07-17 -10.8 1.5 Benign/Likely benign 1 -138538 Simple 9724626 C . Benign/Likely benign 2 2 not specified;Rasopathy 2016-11-30 -6.6 3.0 Likely benign 1 -138542 Simple 201027928 T . Benign/Likely benign 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-03-07 -7.8 1.5 Likely benign 1 -138551 Simple 79422704 A . Benign 2 2 not specified 2014-02-15 -7.800000000000001 4.5 Likely benign 2 -138555 Simple 587781102 T . Benign/Likely benign 2 2 Pitt-Hopkins-like syndrome 2;not specified 2016-08-11 -7.2 2.5 Likely benign 1 -138559 Simple 13413205 A . Benign 2 2 not specified 2016-06-10 -9.6 3.0 Benign/Likely benign 1 -138563 Simple 587781103 T . Benign/Likely benign 2 2 not specified 2016-12-09 -7.2 2.5 Likely benign 1 -138564 Simple 6337 T . Benign 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -138565 Simple 12076232 C . Benign 2 2 not specified 2015-04-03 -9.600000000000001 3.0 Benign/Likely benign 1 -138566 Simple 34271945 G . Benign/Likely benign 2 2 Hereditary insensitivity to pain with anhidrosis 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -138568 Simple 35107257 A . Benign 2 2 not specified 2014-01-30 -8.4 4.0 Benign/Likely benign 1 -138570 Simple 144898877 G . Benign/Likely benign 2 1 not specified 2013-12-26 . 4.0 . 0 -138571 Simple 117475774 A . Benign/Likely benign 2 2 not specified;Optic Atrophy, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -138572 Simple 45527139 C . Benign/Likely benign 2 3 3-Methylglutaconic aciduria type 3;not specified;Optic Atrophy, Dominant 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -138573 Simple 41303733 T . Benign/Likely benign 2 1 not specified 2014-05-29 . 3.0 . 0 -138574 Simple 587781105 G . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-08-03 -6.9 3.0 Likely benign 1 -138575 Simple 115759702 A . Benign/Likely benign 2 9 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -33.3 1.4444444444444444 Benign 1 -138576 Simple 114491776 A . Benign/Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-07-21 -10.5 2.0 Benign/Likely benign 0 -138577 Simple 138697796 G . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -13.2 1.75 Benign/Likely benign 0 -138578 Simple 45560936 C . Benign/Likely benign 2 3 Pyruvate carboxylase deficiency;not specified 2017-07-24 -12.6 2.0 Benign/Likely benign 0 -138581 Simple 45584036 A . Benign/Likely benign 2 2 Pyruvate carboxylase deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138590 Simple 3764758 A . Benign/Likely benign 2 4 Early infantile epileptic encephalopathy 9;not specified 2017-08-03 -17.1 2.75 Benign/Likely benign 0 -138591 Simple 16983426 A . Benign 2 3 Early infantile epileptic encephalopathy 9;not specified 2017-07-21 -13.2 3.3333333333333335 Benign/Likely benign 1 -138593 Simple 184545774 C . Benign/Likely benign 2 4 Early infantile epileptic encephalopathy 9;not specified 2017-07-26 -18.0 2.0 Benign/Likely benign 0 -138595 Simple 145987305 G . Benign 2 2 not specified 2014-05-22 -9.0 3.5 Benign/Likely benign 1 -138596 Simple 192122222 T . Benign/Likely benign 2 4 Early infantile epileptic encephalopathy 9;not specified 2017-05-31 -17.7 2.5 Benign/Likely benign 0 -138597 Simple 199628956 A . Benign 2 2 Early infantile epileptic encephalopathy 9;not specified 2017-07-28 -10.2 2.0 Benign/Likely benign 1 -138598 Simple 368963363 A . Benign 2 2 Early infantile epileptic encephalopathy 9;not specified 2016-04-23 -10.8 2.0 Benign/Likely benign 1 -138600 Simple 200471732 A . Benign/Likely benign 2 4 Early infantile epileptic encephalopathy 9;not specified 2017-07-20 -17.7 2.5 Benign/Likely benign 0 -138602 Simple 61735817 T . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -138603 Simple 61735818 A . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -138604 Simple 2839256 A . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138605 Simple 12481791 T . Benign/Likely benign 2 4 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -16.2 3.0 Benign/Likely benign 0 -138607 Simple 8131693 A . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -138608 Simple 1023160 C . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138610 Simple 743346 A . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -138612 Simple 61735824 G . Benign/Likely benign 2 4 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -16.8 2.75 Benign/Likely benign 0 -138613 Simple 61735822 G . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -138614 Simple 4818842 G . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -138615 Simple 34500739 G . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -138616 Simple 61407822 G . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138617 Simple 138595914 T . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -7.8 2.0 Likely benign 1 -138618 Simple 80017051 T . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -138619 Simple 58559714 A . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138620 Simple 61735543 A . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -138621 Simple 2839245 C . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138622 Simple 35978208 C . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138623 Simple 60444527 G . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138624 Simple 1044998 G . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138625 Simple 57108405 C . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138626 Simple 35346764 C . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138627 Simple 61735812 T . Benign/Likely benign 2 4 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -16.8 2.75 Benign/Likely benign 0 -138628 Simple 2839246 G . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138629 Simple 61735815 C . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -138630 Simple 7277175 G . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -138631 Simple 61735814 T . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -138632 Simple 2277926 A . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -138633 Simple 142259966 T . Benign 2 2 not specified;not provided 2015-12-29 -9.0 3.5 Benign/Likely benign 1 -138634 Simple 61733360 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -138635 Simple 17110644 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -138636 Simple 4705390 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 3.5 Likely benign 1 -138637 Simple 2277925 G . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -138638 Simple 201100689 T . Benign/Likely benign 2 4 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -15.0 2.25 Benign/Likely benign 0 -138639 Simple 142597807 C . Benign/Likely benign 2 3 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -138640 Simple 75695239 A . Benign 2 4 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -138644 Simple 79826315 T . Benign/Likely benign 2 4 not specified;not provided;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2017-02-09 -12.0 2.25 Benign/Likely benign 0 -138654 Simple 11539201 G . Benign/Likely benign 2 3 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -138656 Simple 78878052 A . Benign/Likely benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138657 Simple 34582941 T . Benign/Likely benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -138658 Simple 75182779 T . Benign/Likely benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -138659 Simple 79170416 T . Benign/Likely benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -138660 Simple 76486106 T . Benign/Likely benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -138661 Simple 61752925 A . Benign 2 2 not specified;not provided 2016-12-30 -10.2 2.5 Benign/Likely benign 1 -138662 Simple 61760973 C . Benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -138668 Simple 112661328 A . Benign 2 3 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-08-05 -15.6 2.0 Benign/Likely benign 1 -138669 Simple 138670107 T . Benign 2 3 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-04-21 -16.2 1.6666666666666667 Benign/Likely benign 1 -138671 Simple 34943562 T . Benign 2 3 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-07-26 -15.6 2.0 Benign/Likely benign 1 -138672 Simple 61734674 T . Benign 2 3 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-06-19 -15.6 2.0 Benign/Likely benign 1 -138673 Simple 61734675 A . Benign 2 3 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-07-26 -15.6 2.0 Benign/Likely benign 1 -138675 Simple 4635850 A . Benign 2 2 not specified 2014-11-26 -9.0 3.5 Benign/Likely benign 1 -138676 Simple 8315 A . Benign 2 2 not specified 2015-02-20 -9.6 3.0 Benign/Likely benign 1 -138678 Simple 116775669 A . Benign 2 3 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-07-28 -15.0 2.3333333333333335 Benign/Likely benign 1 -138685 Simple 12571799 G . Benign/Likely benign 2 2 not specified;Coenzyme Q10 deficiency, primary 2016-06-14 -7.2 2.5 Likely benign 1 -138689 Simple 3734675 G . Benign/Likely benign 2 2 not specified;Coenzyme Q10 deficiency, primary 2016-06-14 -7.2 2.5 Likely benign 1 -138690 Simple 3734676 G . Benign/Likely benign 2 2 not specified;Coenzyme Q10 deficiency, primary 2016-06-14 -7.2 2.5 Likely benign 1 -138694 Simple 143782040 G . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2016-11-24 -15.6 2.3333333333333335 Benign/Likely benign 1 -138696 Simple 3007429 T . Benign 2 2 not specified;Distal spinal muscular atrophy 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -138697 Simple 573125799 A . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-10 -12.9 2.0 Benign/Likely benign 0 -138703 Simple 373630535 C . Benign/Likely benign 2 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -21.3 1.8333333333333333 Benign/Likely benign 0 -138705 Simple 143162541 A . Benign/Likely benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -15.9 1.8 Benign/Likely benign 0 -138706 Simple 139990791 G . Benign/Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -18.9 1.8 Benign/Likely benign 0 -138709 Simple 3739186 T . Benign/Likely benign 2 5 Early infantile epileptic encephalopathy 12;not specified;not provided;Epileptic encephalopathy 2017-07-26 -19.2 2.2 Benign/Likely benign 0 -138710 Simple 3739187 T . Benign/Likely benign 2 5 Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy 2017-07-25 -21.0 2.8 Benign/Likely benign 0 -138712 Simple 145307985 T . Benign/Likely benign 2 5 Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy 2017-08-11 -19.2 2.6 Benign/Likely benign 0 -138718 Simple 185452809 T . Benign/Likely benign 2 3 Early infantile epileptic encephalopathy 12;not specified 2017-08-14 -15.600000000000001 2.0 Benign/Likely benign 0 -138722 Simple 112635688 A . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-08-01 -7.2 2.0 Likely benign 1 -138723 Simple 3739206 C . Benign/Likely benign 2 5 Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy 2017-07-27 -22.2 2.4 Benign/Likely benign 0 -138726 Simple 142180374 A . Benign/Likely benign 2 3 Early infantile epileptic encephalopathy 12;not specified 2016-09-04 -12.3 3.0 Benign/Likely benign 0 -138729 Simple 1049562 T . Benign/Likely benign 2 3 Purine-nucleoside phosphorylase deficiency;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -138730 Simple 1130650 T . Benign/Likely benign 2 3 Purine-nucleoside phosphorylase deficiency;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -138732 Simple 71377328 A . Benign/Likely benign 2 2 Pyridoxal 5'-phosphate-dependent epilepsy;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -138735 Simple 782637 C . Benign 2 2 not specified 2015-05-21 -9.600000000000001 3.0 Benign/Likely benign 1 -138739 Simple 7594497 C . Benign 2 2 not specified 2015-05-21 -9.600000000000001 3.0 Benign/Likely benign 1 -138741 Simple 145739483 G . Benign 2 2 not specified 2015-05-27 -10.2 2.5 Benign/Likely benign 1 -138748 Simple 143810171 A . Benign/Likely benign 2 3 Progressive sclerosing poliodystrophy;not specified 2017-03-17 -13.2 1.6666666666666667 Benign/Likely benign 0 -138752 Simple 200372494 C . Benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-06-29 -10.2 2.0 Benign/Likely benign 1 -138754 Simple 2302084 G . Benign/Likely benign 2 4 Fanconi anemia;not specified;POLG-Related Spectrum Disorders 2016-06-14 -16.8 2.75 Benign/Likely benign 0 -138758 Simple 116925016 T . Benign/Likely benign 2 1 not specified 2013-02-06 . 5.0 . 0 -138759 Simple 374224714 G . Benign/Likely benign 2 1 not specified 2014-05-19 . 3.0 . 0 -138763 Simple 2307438 C . Benign 2 1 not specified 2011-06-30 . 6.0 . 0 -138766 Simple 2307443 T . Benign 2 3 Progressive sclerosing poliodystrophy;not specified 2017-07-20 -15.6 1.6666666666666667 Benign/Likely benign 1 -138770 Simple 41540414 A . Benign/Likely benign 2 3 Progressive sclerosing poliodystrophy;not specified 2017-07-17 -16.2 1.3333333333333333 Benign/Likely benign 0 -138773 Simple 116165908 A . Benign 2 4 Progressive sclerosing poliodystrophy;not specified 2017-07-26 -21.0 1.75 Benign/Likely benign 1 -138777 Simple 55962804 T . Benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-03-28 -10.8 1.5 Benign/Likely benign 1 -138782 Simple 1427463 T . Benign 2 2 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 -9.0 3.5 Benign/Likely benign 1 -138783 Simple 17850455 G . Benign/Likely benign 2 4 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -138784 Simple 61733782 A . Benign 2 2 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 -9.0 3.5 Benign/Likely benign 1 -138786 Simple 2270419 C . Benign 2 3 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-08-11 -16.2 1.3333333333333333 Benign/Likely benign 1 -138787 Simple 138488805 C . Benign 2 1 not specified 2014-03-14 . 3.0 . 0 -138788 Simple 116434191 A . Benign 2 2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-05-22 -10.8 1.5 Benign/Likely benign 1 -138789 Simple 4732516 G . Benign 2 2 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -138790 Simple 2228104 C . Benign 2 2 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -138801 Simple 113394351 C . Benign 2 1 not specified 2012-03-22 . 5.0 . 0 -138806 Simple 139421676 C . Benign 2 4 Progressive myoclonus epilepsy with ataxia;not specified 2017-07-25 -21.6 1.75 Benign/Likely benign 1 -138812 Simple 3746683 C . Benign/Likely benign 2 3 Hypogonadism with anosmia;Kallmann syndrome 3;not specified 2017-06-27 -13.2 1.6666666666666667 Benign/Likely benign 0 -138813 Simple 79568162 C . Benign 2 3 Dystonia 10;not specified 2017-05-23 -16.2 1.6666666666666667 Benign/Likely benign 1 -138814 Simple 149260055 G . Benign/Likely benign 2 4 Dystonia 10;not specified 2017-04-13 -16.5 1.5 Benign/Likely benign 0 -138815 Simple 11150573 T . Benign 2 2 Dystonia 10;not specified 2017-08-14 -10.8 1.5 Benign/Likely benign 1 -138817 Simple 118071705 A . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type IV;not specified;not provided;Charcot-Marie-Tooth, Type 4 2017-07-31 -16.2 1.75 Benign/Likely benign 0 -138818 Simple 113386299 A . Benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-08-07 -9.0 3.0 Benign/Likely benign 1 -138819 Simple 3812914 T . Benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -138821 Simple 370745407 A . Benign/Likely benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2016-06-14 -6.0 3.5 Likely benign 1 -138826 Simple 35860563 T . Benign/Likely benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -138827 Simple 149195362 T . Benign/Likely benign 2 4 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-06-13 -17.4 2.25 Benign/Likely benign 0 -138828 Simple 189773500 T . Benign/Likely benign 2 3 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-05-11 -9.6 2.0 Benign/Likely benign 0 -138833 Simple 146035424 T . Benign 2 2 not specified 2016-12-14 -9.6 3.0 Benign/Likely benign 1 -138834 Simple 1805155 G . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-07-10 -16.8 1.25 Benign/Likely benign 0 -138835 Simple 35979531 C . Benign/Likely benign 2 7 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -26.1 1.8571428571428572 Benign 1 -138836 Simple 34149102 A . Benign/Likely benign 2 2 not specified 2017-04-27 -7.2 2.0 Likely benign 1 -138838 Simple 587781129 C . Benign/Likely benign 2 2 Cowden syndrome 1;not specified 2016-10-14 -7.2 2.5 Likely benign 1 -138839 Simple 184743462 T . Benign/Likely benign 2 1 not specified 2013-06-17 . 4.0 . 0 -138840 Simple 587781130 C . Benign/Likely benign 2 2 not specified 2017-05-02 -7.2 2.0 Likely benign 1 -138842 Simple 587781132 T . Benign/Likely benign 2 2 Noonan syndrome;not specified;Rasopathy 2017-06-28 -7.2 2.0 Likely benign 1 -138843 Simple 374896287 A . Benign 3 6 Metachondromatosis;Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardiovascular phenotype 2017-04-18 -14.7 1.3333333333333333 Benign/Likely benign 1 -138844 Simple 201957261 G . Benign/Likely benign 2 2 not specified 2015-10-13 -6.9 3.0 Likely benign 1 -138846 Simple 61757805 T . Benign 2 3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-08-02 -16.2 1.6666666666666667 Benign/Likely benign 1 -138847 Simple 41269905 C . Benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-07-24 -10.2 2.0 Benign/Likely benign 1 -138848 Simple 2230606 C . Benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-07-24 -10.2 2.0 Benign/Likely benign 1 -138849 Simple 41314043 A . Benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-07-24 -10.2 2.0 Benign/Likely benign 1 -138850 Simple 12136658 A . Benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-07-24 -10.2 2.0 Benign/Likely benign 1 -138858 Simple 142954643 A . Benign/Likely benign 2 2 not specified;Mitochondrial myopathy and sideroblastic anemia 2016-06-14 -7.2 2.5 Likely benign 1 -138859 Simple 76655496 A . Benign/Likely benign 2 2 not specified;Mitochondrial myopathy and sideroblastic anemia 2016-06-14 -7.8 2.0 Likely benign 1 -138860 Simple 56786863 T . Benign 2 2 not specified 2015-04-15 -9.600000000000001 3.0 Benign/Likely benign 1 -138862 Simple 112000804 T . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 2 2016-06-14 -7.8 2.0 Likely benign 1 -138863 Simple 4548 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, axonal, type 2b;not specified;Charcot-Marie-Tooth, Type 2 2017-08-10 -19.8 1.0 Benign/Likely benign 0 -138864 Simple 1064498 G . Benign 2 2 not specified 2016-03-28 -9.6 3.0 Benign/Likely benign 1 -138867 Simple 193023469 T . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-01 -6.9 3.0 Likely benign 1 -138869 Simple 28363303 G . Benign/Likely benign 2 9 Fanconi anemia;Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2017-08-04 -42.0 1.4444444444444444 Benign 1 -138870 Simple 377297129 G . Benign/Likely benign 2 4 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2016-10-25 -12.9 2.0 Benign/Likely benign 0 -138871 Simple 145832514 T . Benign/Likely benign 2 6 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -21.9 1.6666666666666667 Benign/Likely benign 0 -138872 Simple 28363283 T . Benign/Likely benign 2 6 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -28.8 1.8333333333333333 Benign 1 -138873 Simple 28363284 C . Benign/Likely benign 2 8 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2017-08-18 -37.2 1.75 Benign 1 -138874 Simple 148690585 A . Benign/Likely benign 2 7 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-04 -24.3 1.5714285714285714 Benign 1 -138875 Simple 146212490 A . Benign/Likely benign 2 5 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -21.0 2.0 Benign/Likely benign 0 -138876 Simple 140848654 A . Benign/Likely benign 2 7 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2017-08-15 -30.0 1.7142857142857142 Benign 1 -138878 Simple 376472075 T . Benign/Likely benign 2 2 Breast-ovarian cancer, familial 4;not specified 2016-09-28 -7.2 2.5 Likely benign 1 -138879 Simple 180869630 C . Benign/Likely benign 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2016-06-09 -9.6 2.6666666666666665 Benign/Likely benign 0 -138880 Simple 147933658 T . Benign/Likely benign 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2016-10-19 -9.9 2.3333333333333335 Benign/Likely benign 0 -138882 Simple 4151025 A . Benign/Likely benign 2 4 Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified;Severe Combined Immune Deficiency 2017-08-07 -16.2 1.5 Benign/Likely benign 0 -138883 Simple 3740955 A . Benign 2 2 Combined cellular and humoral immune defects with granulomas;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified 2017-08-21 -9.6 2.5 Benign/Likely benign 1 -138884 Simple 4151033 A . Benign 2 2 Combined cellular and humoral immune defects with granulomas;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified 2017-07-05 -10.2 2.0 Benign/Likely benign 1 -138886 Simple 34092949 T . Benign/Likely benign 2 4 Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified;Severe Combined Immune Deficiency 2017-08-04 -16.2 1.5 Benign/Likely benign 0 -138887 Simple 34629171 T . Benign 2 2 Combined cellular and humoral immune defects with granulomas;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified 2017-07-25 -9.6 2.5 Benign/Likely benign 1 -138889 Simple 35420920 A . Benign 2 2 Cardiac arrhythmia;not specified 2017-07-20 -10.8 1.5 Benign/Likely benign 1 -138901 Simple 1417635 C . Benign/Likely benign 2 5 not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -23.4 2.2 Benign/Likely benign 0 -138904 Simple 390659 C . Benign/Likely benign 2 8 Patterned dystrophy of retinal pigment epithelium;not specified;Vitelliform macular dystrophy;Fundus albipunctatus;Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant 2016-06-14 -25.8 1.875 Benign 1 -138905 Simple 425876 T . Benign/Likely benign 2 8 Patterned dystrophy of retinal pigment epithelium;not specified;Vitelliform macular dystrophy;Fundus albipunctatus;Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant 2016-06-14 -25.8 1.875 Benign 1 -138906 Simple 434102 C . Benign/Likely benign 2 8 Patterned dystrophy of retinal pigment epithelium;not specified;not provided;Vitelliform macular dystrophy;Fundus albipunctatus;Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant 2016-06-14 -25.8 1.875 Benign 1 -138908 Simple 114062933 G . Benign/Likely benign 2 7 Patterned dystrophy of retinal pigment epithelium;not specified;Vitelliform macular dystrophy;Fundus albipunctatus;Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant 2016-06-14 -21.0 1.7142857142857142 Benign/Likely benign 0 -138910 Simple 362810 G . Benign/Likely benign 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -138915 Simple 115079861 T . Benign 2 2 not specified;not provided 2016-06-30 -10.2 2.5 Benign/Likely benign 1 -138927 Simple 1366610 A . Benign 2 2 Diamond-Blackfan anemia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -138929 Simple 28999710 A . Benign 2 3 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -138930 Simple 376542259 T . Benign 2 3 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -138934 Simple 377710043 T . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-31 -13.8 3.0 Benign/Likely benign 1 -138935 Simple 76380341 T . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-27 -15.600000000000001 2.0 Benign/Likely benign 1 -138936 Simple 187565743 G . Benign/Likely benign 2 5 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-06-16 -21.6 1.6 Benign/Likely benign 0 -138937 Simple 147389346 A . Benign/Likely benign 2 6 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-08-01 -24.6 2.3333333333333335 Benign 1 -138938 Simple 182050281 T . Benign 2 2 not specified 2016-04-03 -9.0 3.5 Benign/Likely benign 1 -138939 Simple 184176405 A . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-19 -15.600000000000001 2.0 Benign/Likely benign 1 -138942 Simple 368017980 A . Benign/Likely benign 2 3 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-04-17 -9.9 2.3333333333333335 Benign/Likely benign 0 -138946 Simple 116774472 T . Benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-12 -19.8 2.5 Benign/Likely benign 1 -138949 Simple 371560909 A . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-08-08 -15.3 2.25 Benign/Likely benign 0 -138950 Simple 372778902 T . Benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-08 -10.2 2.0 Benign/Likely benign 1 -138951 Simple 370740528 T . Benign/Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-25 -7.8 1.5 Likely benign 1 -138960 Simple 34264048 C . Benign/Likely benign 2 2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -138963 Simple 16907355 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-01-22 -13.8 1.6666666666666667 Benign/Likely benign 0 -138964 Simple 117957652 C . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-08-08 -19.8 1.0 Benign/Likely benign 0 -138965 Simple 12574508 C . Benign/Likely benign 2 3 not specified;Charcot-Marie-Tooth, Type 4 2017-07-12 -13.8 1.3333333333333333 Benign/Likely benign 0 -138966 Simple 75447733 G . Benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -138967 Simple 73826386 T . Benign 2 3 Progressive myoclonic epilepsy;not specified;not provided 2017-08-10 -16.8 1.3333333333333333 Benign/Likely benign 1 -138968 Simple 35369082 T . Benign 2 1 not specified 2013-11-11 . 4.0 . 0 -138970 Simple 72857097 G . Benign 2 2 Progressive myoclonic epilepsy;not specified 2017-08-10 -10.2 2.0 Benign/Likely benign 1 -138972 Simple 56112036 A . Benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-04-06 -14.4 2.6666666666666665 Benign/Likely benign 1 -138973 Simple 150964803 G . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-06-12 -9.9 2.0 Benign/Likely benign 0 -138980 Simple 149579028 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-08-01 -13.2 1.6666666666666667 Benign/Likely benign 0 -138982 Simple 138231868 C . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-05-16 -12.0 2.3333333333333335 Benign/Likely benign 0 -138984 Simple 78041051 T . Benign 2 2 not specified 2016-01-07 -9.600000000000001 3.0 Benign/Likely benign 1 -138990 Simple 16969924 A . Benign/Likely benign 2 4 Cardiac conduction defect, nonspecific;Generalized epilepsy with febrile seizures plus;Brugada syndrome;not specified 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -138992 Simple 140949982 T . Benign 2 4 Brugada syndrome 5;not specified 2017-07-26 -20.4 2.25 Benign/Likely benign 1 -138993 Simple 16969927 T . Benign 2 3 Brugada syndrome 5;not specified 2017-08-14 -15.0 2.3333333333333335 Benign/Likely benign 1 -138995 Simple 3746255 T . Benign/Likely benign 2 7 Cardiac conduction defect, nonspecific;Brugada syndrome 5;Generalized epilepsy with febrile seizures plus;Brugada syndrome;not specified;Cardiovascular phenotype 2017-07-26 -29.4 1.7142857142857142 Benign 1 -138996 Simple 200222933 C . Benign/Likely benign 2 2 Brugada syndrome 5;not specified 2016-10-21 -7.8 2.0 Likely benign 1 -138997 Simple 186759145 T . Benign 2 2 Brugada syndrome 5;not specified 2017-08-04 -10.2 2.0 Benign/Likely benign 1 -138998 Simple 55742440 C . Benign 2 2 not specified 2013-07-22 -8.4 4.0 Benign/Likely benign 1 -138999 Simple 67701503 A . Benign 2 2 not specified 2013-07-22 -8.4 4.0 Benign/Likely benign 1 -139000 Simple 67486287 A . Benign 2 2 Brugada syndrome 5;not specified 2017-07-24 -10.2 2.0 Benign/Likely benign 1 -139002 Simple 66671189 A . Benign/Likely benign 2 6 Cardiac conduction defect, nonspecific;Generalized epilepsy with febrile seizures plus;Brugada syndrome;not specified 2016-06-14 -20.7 2.0 Benign/Likely benign 0 -139005 Simple 77244433 C . Benign/Likely benign 2 3 Brugada syndrome 5;not specified 2017-06-06 -13.2 1.6666666666666667 Benign/Likely benign 0 -139010 Simple 199997352 C . Benign/Likely benign 2 3 Benign familial neonatal-infantile seizures;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -139011 Simple 145662546 T . Benign/Likely benign 2 5 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-19 -21.6 1.6 Benign/Likely benign 0 -139013 Simple 140194137 A . Benign/Likely benign 2 4 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-27 -16.8 1.25 Benign/Likely benign 0 -139018 Simple 2227898 G . Benign/Likely benign 2 5 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-10 -19.5 1.4 Benign/Likely benign 0 -139019 Simple 138123155 T . Benign 2 3 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2017-07-19 -16.8 1.3333333333333333 Benign/Likely benign 1 -139021 Simple 140417984 T . Benign 2 3 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2017-07-21 -16.2 1.6666666666666667 Benign/Likely benign 1 -139027 Simple 200246820 G . Benign/Likely benign 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2016-12-15 -7.8 2.0 Likely benign 1 -139029 Simple 200546427 A . Benign/Likely benign 2 5 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-28 -21.6 1.6 Benign/Likely benign 0 -139032 Simple 147891446 G . Benign/Likely benign 2 6 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-03 -23.1 2.0 Benign/Likely benign 0 -139033 Simple 148484744 T . Benign/Likely benign 2 3 Brugada syndrome 7;not specified;Cardiovascular phenotype 2016-12-13 -13.5 2.0 Benign/Likely benign 0 -139036 Simple 72544155 A . Benign 2 2 Long QT syndrome 10;not specified 2017-04-11 -9.0 3.0 Benign/Likely benign 1 -139037 Simple 45539032 A . Benign/Likely benign 2 5 Long QT syndrome 10;Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2017-08-03 -20.4 2.0 Benign/Likely benign 0 -139040 Simple 587781159 A . Benign 2 2 Brugada syndrome;not specified 2017-04-11 -10.2 2.0 Benign/Likely benign 1 -139042 Simple 373342830 T . Benign/Likely benign 2 2 Brugada syndrome;not specified 2017-05-03 -7.2 2.0 Likely benign 1 -139043 Simple 200285003 T . Benign/Likely benign 2 2 Brugada syndrome;not specified 2017-06-07 -7.2 2.0 Likely benign 1 -139045 Simple 587781160 A . Benign/Likely benign 2 2 Brugada syndrome;not specified 2016-01-11 -7.5 2.5 Likely benign 1 -139047 Simple 372970828 A . Benign/Likely benign 2 3 Brugada syndrome;not specified 2017-02-06 -9.3 3.0 Benign/Likely benign 0 -139048 Simple 45565936 A . Benign 2 3 Brugada syndrome;not specified 2017-07-26 -13.8 3.0 Benign/Likely benign 1 -139050 Simple 138870926 T . Benign/Likely benign 2 3 Brugada syndrome;not specified 2017-07-28 -12.6 2.3333333333333335 Benign/Likely benign 0 -139052 Simple 201024847 A . Benign 2 2 Brugada syndrome;not specified 2017-07-21 -10.2 2.0 Benign/Likely benign 1 -139053 Simple 587781161 A . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2013-08-29 -6.300000000000001 4.0 Likely benign 1 -139058 Simple 184934308 A . Benign 2 3 Brugada syndrome;not specified 2017-04-20 -15.600000000000001 2.0 Benign/Likely benign 1 -139063 Simple 200556220 G . Benign/Likely benign 2 4 Brugada syndrome;not specified 2017-05-23 -16.5 1.5 Benign/Likely benign 0 -139066 Simple 375752426 A . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2015-10-23 -6.9 3.0 Likely benign 1 -139067 Simple 200594132 T . Benign/Likely benign 2 4 Brugada syndrome;not specified;Cardiovascular phenotype 2017-06-12 -15.600000000000001 2.0 Benign/Likely benign 0 -139068 Simple 148027656 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy 2017-06-30 -19.2 1.75 Benign/Likely benign 0 -139069 Simple 187153231 T . Benign/Likely benign 2 7 not specified;not provided;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-20 -36.6 1.4285714285714286 Benign 1 -139070 Simple 187002252 G . Benign/Likely benign 2 5 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-04-29 -21.6 1.8 Benign/Likely benign 0 -139071 Simple 372582842 T . Benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-07-19 -15.6 2.0 Benign/Likely benign 1 -139072 Simple 187327463 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-05-01 -13.2 1.6666666666666667 Benign/Likely benign 0 -139073 Simple 9943809 G . Benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -139074 Simple 143139673 C . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -139075 Simple 149013279 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-10 -19.2 1.5 Benign/Likely benign 0 -139076 Simple 74449889 G . Benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -47.4 1.125 Benign 0 -139077 Simple 11538237 C . Benign/Likely benign 2 4 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -139079 Simple 2271228 C . Benign/Likely benign 2 5 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;not provided 2016-06-14 -18.6 1.8 Benign/Likely benign 0 -139080 Simple 1802083 A . Benign/Likely benign 2 4 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -139081 Simple 74479613 T . Benign 2 4 Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -139082 Simple 140523 G . Benign 2 4 Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -139084 Simple 75485962 A . Benign/Likely benign 2 4 Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -139085 Simple 131811 A . Benign/Likely benign 2 4 Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -12.0 2.25 Benign/Likely benign 0 -139086 Simple 12148 G . Benign 2 4 Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;Fatal Infantile Cardioencephalomyopathy 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -139088 Simple 8139305 A . Benign/Likely benign 2 5 Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;not provided;Fatal Infantile Cardioencephalomyopathy 2016-12-09 -15.6 1.8 Benign/Likely benign 0 -139089 Simple 76336581 G . Benign/Likely benign 2 3 Mitochondrial complex II deficiency;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -139091 Simple 34270473 G . Benign/Likely benign 2 2 not specified;not provided 2016-10-11 -7.2 2.5 Likely benign 1 -139093 Simple 6929274 A . Benign 2 2 not specified 2016-03-29 -10.2 2.5 Benign/Likely benign 1 -139094 Simple 9356399 C . Benign 2 2 not specified 2016-03-29 -10.2 2.5 Benign/Likely benign 1 -139099 Simple 372152495 C . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy, type 2F;not specified 2017-06-06 -17.1 2.5 Benign/Likely benign 0 -139101 Simple 17722227 T . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2017-08-09 -21.6 1.6 Benign/Likely benign 0 -139102 Simple 6871030 C . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2017-01-25 -16.2 1.75 Benign/Likely benign 0 -139104 Simple 34081996 T . Benign 3 4 Noonan syndrome-like disorder with loose anagen hair 1;not specified;Rasopathy 2017-04-18 -18.6 1.75 Benign/Likely benign 1 -139106 Simple 185614302 T . Benign/Likely benign 2 1 not specified 2013-09-08 . 4.0 . 0 -139107 Simple 201258692 A . Benign/Likely benign 2 2 Noonan syndrome-like disorder with loose anagen hair 1;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 0 -139108 Simple 146147503 T . Benign 3 3 not specified;Rasopathy 2017-04-03 -18.6 0.3333333333333333 Benign/Likely benign 1 -139109 Simple 180671383 T . Benign 3 5 Noonan syndrome-like disorder with loose anagen hair 1;not specified;Rasopathy 2017-04-18 -24.6 1.6 Benign 0 -139110 Simple 145463534 G . Benign 3 4 Noonan syndrome-like disorder with loose anagen hair 1;not specified;Rasopathy 2017-04-18 -19.8 1.25 Benign/Likely benign 1 -139111 Simple 149898447 T . Benign 2 3 Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-26 -15.6 2.0 Benign/Likely benign 1 -139112 Simple 200019352 G . Benign 2 5 Shprintzen-Goldberg syndrome;not specified 2017-08-03 -27.0 1.8 Benign 0 -139113 Simple 28384811 G . Benign 2 3 not specified 2017-06-05 -15.6 2.0 Benign/Likely benign 1 -139114 Simple 140889128 T . Benign 2 5 Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-26 -26.4 2.0 Benign 0 -139115 Simple 114345135 A . Benign 2 5 Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -27.0 1.8 Benign 0 -139116 Simple 35833638 T . Benign/Likely benign 2 5 Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-05 -23.4 2.2 Benign/Likely benign 0 -139117 Simple 201895384 T . Benign 2 3 Shprintzen-Goldberg syndrome;not specified 2017-05-13 -15.6 2.0 Benign/Likely benign 1 -139118 Simple 35583475 A . Benign/Likely benign 2 3 Andermann syndrome;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -139119 Simple 2290940 T . Benign/Likely benign 2 3 Andermann syndrome;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -139120 Simple 2290941 A . Benign/Likely benign 2 1 not specified 2014-02-28 . 4.0 . 0 -139121 Simple 17236798 G . Benign/Likely benign 2 3 Andermann syndrome;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -139122 Simple 6728344 C . Benign/Likely benign 2 2 not specified;Thiamine Metabolism Dysfunction Syndrome 2016-06-14 -7.2 2.5 Likely benign 1 -139124 Simple 12185721 T . Benign 2 3 Basal ganglia disease, biotin-responsive;not specified 2017-07-26 -16.2 1.3333333333333333 Benign/Likely benign 1 -139125 Simple 41396747 A . Benign/Likely benign 2 3 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome;not specified 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -139126 Simple 9577152 T . Benign/Likely benign 2 2 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -139127 Simple 17849654 T . Benign 2 2 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -139128 Simple 115490180 A . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -139137 Simple 111277421 C . Benign/Likely benign 2 4 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 -14.4 3.75 Benign/Likely benign 0 -139138 Simple 374780430 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-06-27 -12.6 2.0 Benign/Likely benign 0 -139141 Simple 150544061 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2017-06-08 -18.0 2.0 Benign/Likely benign 0 -139147 Simple 554507285 G . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -139148 Simple 11544648 C . Benign/Likely benign 2 2 Mitochondrial phosphate carrier deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -139152 Simple 34486484 A . Benign/Likely benign 2 2 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 -7.2 2.5 Likely benign 1 -139153 Simple 3733652 A . Benign 2 2 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 -9.0 3.5 Benign/Likely benign 1 -139155 Simple 34025424 T . Benign/Likely benign 2 6 GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-06-01 -25.8 2.0 Benign 1 -139158 Simple 115541691 A . Benign/Likely benign 2 3 GLUT1 deficiency syndrome 1, autosomal recessive;not specified 2016-08-06 -12.9 2.3333333333333335 Benign/Likely benign 0 -139161 Simple 13306757 A . Benign/Likely benign 2 6 GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-07-25 -24.6 2.3333333333333335 Benign 1 -139163 Simple 140825318 A . Benign/Likely benign 2 2 GLUT1 deficiency syndrome 1, autosomal recessive;not specified 2016-07-05 -7.2 2.5 Likely benign 1 -139165 Simple 143588685 A . Benign 2 2 not specified 2017-02-16 -10.2 2.5 Benign/Likely benign 1 -139166 Simple 2236574 A . Benign/Likely benign 2 7 GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-07-25 -33.0 1.5714285714285714 Benign 1 -139167 Simple 13306758 T . Benign/Likely benign 2 6 GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2017-07-25 -27.0 1.6666666666666667 Benign 1 -139170 Simple 6094438 T . Benign/Likely benign 2 4 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-16 -17.4 2.25 Benign/Likely benign 0 -139171 Simple 34990188 T . Benign/Likely benign 2 6 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-18 -26.400000000000002 2.0 Benign 1 -139172 Simple 2235491 A . Benign 2 6 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-12 -31.2 2.1666666666666665 Benign 0 -139174 Simple 79849424 G . Benign/Likely benign 2 4 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-26 -18.6 1.75 Benign/Likely benign 0 -139177 Simple 41283344 G . Benign 2 5 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -25.8 2.2 Benign 0 -139178 Simple 2425906 G . Benign 2 1 not specified 2012-11-20 . 5.0 . 0 -139180 Simple 113496485 A . Benign 2 1 not specified 2013-06-14 . 4.0 . 0 -139181 Simple 6018008 G . Benign/Likely benign 2 4 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -17.4 2.25 Benign/Likely benign 0 -139182 Simple 7348121 G . Benign/Likely benign 2 5 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -23.4 2.0 Benign/Likely benign 0 -139183 Simple 114974138 A . Benign 2 3 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-01-12 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -139184 Simple 149481442 T . Benign/Likely benign 2 2 Arterial tortuosity syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -139186 Simple 79849261 C . Benign/Likely benign 2 2 Glycogen storage disease, type I;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -139187 Simple 34123220 G . Benign/Likely benign 2 3 Glucose-6-phosphate transport defect;Glycogen storage disease, type I;not specified 2017-08-07 -13.8 1.3333333333333333 Benign/Likely benign 0 -139188 Simple 34203644 A . Benign 2 2 Glucose-6-phosphate transport defect;not specified 2017-07-31 -10.2 2.0 Benign/Likely benign 1 -139189 Simple 56394886 A . Benign 2 1 not specified 2013-09-25 . 4.0 . 0 -139190 Simple 741811 A . Benign 2 1 not specified 2013-11-12 . 4.0 . 0 -139191 Simple 61730035 A . Benign 2 2 Glucose-6-phosphate transport defect;not specified 2017-07-31 -10.2 2.0 Benign/Likely benign 1 -139192 Simple 8192696 T . Benign 2 1 not specified 2013-08-29 . 4.0 . 0 -139193 Simple 35010541 A . Benign/Likely benign 2 3 Glucose-6-phosphate transport defect;not specified;not provided 2017-07-31 -12.9 2.0 Benign/Likely benign 0 -139194 Simple 34871377 T . Benign 2 2 Glucose-6-phosphate transport defect;not specified 2017-07-19 -10.8 1.5 Benign/Likely benign 1 -139195 Simple 3759012 T . Benign 2 2 Glycogen storage disease, type I;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -139196 Simple 1805061 G . Benign 2 2 Lysinuric protein intolerance;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -139197 Simple 1061040 C . Benign 2 2 Lysinuric protein intolerance;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -139198 Simple 1805059 T . Benign 2 2 Lysinuric protein intolerance;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -139199 Simple 8018462 G . Benign 2 2 Lysinuric protein intolerance;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -139200 Simple 144316388 C . Benign 2 3 Christianson syndrome;not specified 2017-05-18 -16.2 1.3333333333333333 Benign/Likely benign 1 -139201 Simple 17001258 T . Benign 2 3 Christianson syndrome;not specified 2017-08-01 -13.2 3.3333333333333335 Benign/Likely benign 1 -139203 Simple 142049079 C . Benign 2 5 Christianson syndrome;not specified 2017-07-18 -26.400000000000002 2.0 Benign 0 -139204 Simple 185533973 G . Benign 2 2 Christianson syndrome;not specified 2017-08-11 -10.2 2.0 Benign/Likely benign 1 -139206 Simple 563279759 T . Benign 2 3 Christianson syndrome;not specified 2017-06-22 -18.0 0.3333333333333333 Benign/Likely benign 1 -139207 Simple 146263125 A . Benign/Likely benign 2 6 Christianson syndrome;not specified;not provided 2017-07-05 -28.5 1.0 Benign 1 -139208 Simple 188072063 A . Benign 2 4 Christianson syndrome;not specified 2017-07-26 -19.8 2.5 Benign/Likely benign 1 -139209 Simple 2307131 T . Benign/Likely benign 2 4 Christianson syndrome;not specified 2017-08-03 -17.1 2.75 Benign/Likely benign 0 -139212 Simple 35874463 G . Benign/Likely benign 2 8 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-17 -36.0 2.0 Benign 1 -139213 Simple 117185005 T . Benign/Likely benign 2 6 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-15 -27.0 1.6666666666666667 Benign 1 -139214 Simple 144374592 T . Benign 2 3 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -139215 Simple 36221703 T . Benign 2 3 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -139216 Simple 1061427 A . Benign 2 4 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -19.8 2.75 Benign/Likely benign 1 -139217 Simple 1065080 G . Benign 2 7 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-15 -36.0 2.2857142857142856 Benign 0 -139218 Simple 181178864 G . Benign/Likely benign 2 9 Myhre syndrome;Juvenile polyposis syndrome;Osler hemorrhagic telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-07-31 -39.0 1.3333333333333333 Benign 1 -139219 Simple 186332162 C . Benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -22.2 1.5 Benign/Likely benign 1 -139220 Simple 11663402 T . Benign/Likely benign 2 5 Myhre syndrome;Osler hemorrhagic telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2016-06-14 -19.2 1.6 Benign/Likely benign 0 -139224 Simple 573772189 A . Benign 2 2 Long QT syndrome;not specified 2017-05-15 -10.2 2.0 Benign/Likely benign 1 -139225 Simple 141507912 C . Benign/Likely benign 2 2 not specified 2015-04-07 -7.5 2.5 Likely benign 1 -139228 Simple 75877625 G . Benign 3 5 not specified;Rasopathy 2017-04-18 -22.5 2.4 Benign/Likely benign 1 -139233 Simple 150536159 G . Benign/Likely benign 2 1 not specified 2014-05-09 . 3.0 . 0 -139234 Simple 75937422 A . Benign 2 1 not specified 2013-09-27 . 4.0 . 0 -139235 Simple 112906251 G . Benign 2 1 Noonan syndrome;not specified 2014-05-29 . 6.0 . 0 -139236 Simple 139683425 C . Likely benign 3 2 not specified;Rasopathy 2017-04-18 -8.1 1.5 Likely benign 0 -139242 Simple 80324518 T . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -139247 Simple 74590011 G . Benign/Likely benign 2 1 not specified 2013-12-26 . 4.0 . 0 -139250 Simple 61747711 T . Benign 2 2 Spastic paraplegia 7;not specified 2017-07-31 -9.6 2.5 Benign/Likely benign 1 -139253 Simple 187330648 A . Benign 2 4 Spastic paraplegia 7;not specified 2017-04-28 -21.0 2.0 Benign/Likely benign 1 -139254 Simple 17860502 A . Benign/Likely benign 2 3 Netherton syndrome;not specified 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -139255 Simple 35121983 A . Benign/Likely benign 2 3 Netherton syndrome;not specified 2017-08-04 -13.8 1.3333333333333333 Benign/Likely benign 0 -139256 Simple 6892205 G . Benign 2 1 Netherton syndrome;not specified 2016-06-14 . 1.0 . 0 -139257 Simple 34482796 T . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -139258 Simple 2303064 A . Benign 2 3 Netherton syndrome;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -139259 Simple 2303065 C . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -139260 Simple 115504632 T . Benign/Likely benign 2 3 Netherton syndrome;not specified 2017-08-04 -13.8 1.3333333333333333 Benign/Likely benign 0 -139261 Simple 17718737 C . Benign/Likely benign 2 3 Netherton syndrome;not specified 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -139262 Simple 2303070 T . Benign 2 3 Netherton syndrome;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -139263 Simple 2052537 T . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -139264 Simple 115815276 A . Benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-05-17 -15.6 2.0 Benign/Likely benign 1 -139265 Simple 138609094 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-02-03 -12.6 2.6666666666666665 Benign/Likely benign 0 -139268 Simple 113357847 T . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -139271 Simple 115428827 T . Benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-05-18 -16.2 1.3333333333333333 Benign/Likely benign 1 -139272 Simple 143941068 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-06-30 -12.6 2.3333333333333335 Benign/Likely benign 0 -139275 Simple 10760566 A . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-10 -9.6 2.5 Benign/Likely benign 1 -139276 Simple 28676915 G . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -139277 Simple 34084388 A . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-03 -16.2 2.75 Benign/Likely benign 0 -139281 Simple 150731568 A . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -139282 Simple 140279996 A . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-04-07 -18.6 1.75 Benign/Likely benign 0 -139283 Simple 2227865 A . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-03 -16.2 2.75 Benign/Likely benign 0 -139285 Simple 142682344 G . Benign/Likely benign 2 4 not specified;not provided;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-02-22 -13.8 2.75 Benign/Likely benign 0 -139286 Simple 117614529 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-02-06 -13.8 1.6666666666666667 Benign/Likely benign 0 -139290 Simple 2228951 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-26 -19.2 1.5 Benign/Likely benign 0 -139294 Simple 114745823 A . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-02-14 -10.2 2.5 Benign/Likely benign 1 -139295 Simple 1415568 A . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-10 -9.6 2.5 Benign/Likely benign 1 -139297 Simple 2227862 T . Benign 2 3 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -139298 Simple 142964132 A . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2016-04-05 -10.2 2.5 Benign/Likely benign 1 -139299 Simple 140191388 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-04-07 -12.9 2.0 Benign/Likely benign 0 -139301 Simple 79569204 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-09-20 -15.3 2.5 Benign/Likely benign 0 -139302 Simple 11543347 T . Benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-05-31 -16.2 1.6666666666666667 Benign/Likely benign 1 -139303 Simple 140353002 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy 2017-08-11 -18.6 1.75 Benign/Likely benign 0 -139305 Simple 11543345 A . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-31 -16.8 2.5 Benign/Likely benign 0 -139306 Simple 139799727 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-04-03 -19.2 1.5 Benign/Likely benign 0 -139310 Simple 116778543 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-06-16 -13.2 1.6666666666666667 Benign/Likely benign 0 -139311 Simple 112955915 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-27 -14.4 2.75 Benign/Likely benign 0 -139312 Simple 16930539 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-10 -12.6 2.0 Benign/Likely benign 0 -139314 Simple 75028792 A . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-02-23 -10.2 2.5 Benign/Likely benign 1 -139315 Simple 200456378 A . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2016-09-03 -10.2 2.5 Benign/Likely benign 1 -139318 Simple 138634476 T . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-04-25 -7.2 2.0 Likely benign 1 -139320 Simple 2228952 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-03 -16.2 2.75 Benign/Likely benign 0 -139322 Simple 138268337 C . Benign/Likely benign 2 4 Neuropathy hereditary sensory and autonomic type 1;not specified 2017-08-04 -19.2 1.5 Benign/Likely benign 0 -139326 Simple 138091242 T . Benign/Likely benign 2 3 Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked;not specified 2017-07-07 -13.8 1.3333333333333333 Benign/Likely benign 0 -139328 Simple 149214040 G . Benign/Likely benign 2 2 Hyperimmunoglobulin E syndrome;Hyper-IgE syndrome;STAT3 gain of function 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -139330 Simple 587781176 A . Benign/Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -16.8 1.2 Benign/Likely benign 0 -139331 Simple 376313955 A . Benign/Likely benign 2 7 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -27.3 1.7142857142857142 Benign 1 -139332 Simple 587781177 T . Benign/Likely benign 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-06 -10.2 2.0 Benign/Likely benign 0 -139333 Simple 565387911 T . Benign/Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -15.6 2.0 Benign/Likely benign 0 -139334 Simple 375315233 A . Conflicting interpretations of pathogenicity 1 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -12.9 2.0 Benign/Likely benign 3 -139335 Simple 372378119 C . Benign/Likely benign 2 6 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -18.6 1.8333333333333333 Benign/Likely benign 0 -139337 Simple 587781178 A . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -12.6 1.75 Benign/Likely benign 0 -139338 Simple 183406870 A . Benign/Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -19.2 1.6 Benign/Likely benign 0 -139339 Simple 587781179 A . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -12.9 2.0 Benign/Likely benign 0 -139341 Simple 587781180 A . Benign/Likely benign 2 2 Peutz-Jeghers syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -139343 Simple 138763389 C . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-01 -12.6 2.0 Benign/Likely benign 0 -139344 Simple 199827018 G . Benign/Likely benign 2 5 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-06-22 -20.1 2.2 Benign/Likely benign 0 -139345 Simple 180716154 G . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-31 -10.2 2.0 Benign/Likely benign 1 -139346 Simple 567071026 T . Benign 2 4 not specified;Early infantile epileptic encephalopathy 2017-06-29 -22.2 1.25 Benign/Likely benign 1 -139347 Simple 140247913 T . Benign 2 1 not specified 2012-03-26 . 5.0 . 0 -139348 Simple 58889246 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-10 -15.0 2.3333333333333335 Benign/Likely benign 0 -139349 Simple 201302013 T . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-19 -10.2 2.0 Benign/Likely benign 1 -139351 Simple 35099393 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-31 -13.2 1.6666666666666667 Benign/Likely benign 0 -139352 Simple 374034782 T . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -139353 Simple 144094037 A . Benign/Likely benign 2 2 not specified 2015-09-03 -6.300000000000001 3.5 Likely benign 1 -139354 Simple 142595450 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-31 -13.2 1.6666666666666667 Benign/Likely benign 0 -139358 Simple 6561424 A . Benign 2 3 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -139359 Simple 35568795 C . Benign/Likely benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -7.2 2.5 Likely benign 1 -139360 Simple 7320366 T . Benign 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -9.0 3.5 Benign/Likely benign 1 -139362 Simple 117412559 T . Benign/Likely benign 2 5 not specified;Mitochondrial DNA depletion syndrome 2017-06-29 -22.8 2.2 Benign/Likely benign 0 -139363 Simple 62636645 C . Benign/Likely benign 2 3 not specified;not provided;Mitochondrial DNA depletion syndrome 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -139367 Simple 35899901 A . Benign 2 2 not specified 2015-05-22 -9.0 3.5 Benign/Likely benign 1 -139368 Simple 116492610 C . Benign/Likely benign 2 3 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -139372 Simple 116779216 C . Benign 2 3 Leigh syndrome;not specified;not provided 2017-07-19 -16.2 1.6666666666666667 Benign/Likely benign 1 -139373 Simple 28615629 G . Benign/Likely benign 2 3 Leigh syndrome;not specified 2017-08-07 -12.0 2.3333333333333335 Benign/Likely benign 0 -139374 Simple 28715079 C . Benign/Likely benign 2 3 Leigh syndrome;not specified 2017-08-07 -12.0 2.3333333333333335 Benign/Likely benign 0 -139375 Simple 72619327 G . Benign/Likely benign 2 3 Leigh syndrome;not specified 2017-08-07 -13.8 1.3333333333333333 Benign/Likely benign 0 -139376 Simple 41296099 G . Benign 2 3 Leigh syndrome;not specified;not provided 2017-07-19 -16.2 1.6666666666666667 Benign/Likely benign 1 -139377 Simple 523304 A . Benign 2 2 Leigh syndrome;not specified 2016-06-14 -9.0 3.5 Benign/Likely benign 1 -139384 Simple 187134574 C . Benign 2 4 Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified;not provided 2017-06-15 -22.2 1.25 Benign/Likely benign 1 -139386 Simple 35252424 A . Benign 2 2 not specified;not provided 2016-12-30 -9.6 3.0 Benign/Likely benign 1 -139390 Simple 191527230 T . Benign 2 2 not specified 2014-02-12 -8.4 4.0 Benign/Likely benign 1 -139391 Simple 13339105 C . Benign/Likely benign 2 2 Myoclonic epilepsy, familial infantile;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -139394 Simple 149371169 T . Benign/Likely benign 2 4 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-08-03 -18.0 2.0 Benign/Likely benign 0 -139395 Simple 587781187 A . Benign 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-01-19 -10.2 2.5 Benign/Likely benign 1 -139396 Simple 72768728 G . Benign/Likely benign 2 6 Epileptic encephalopathy, early infantile, 1;not specified;not provided;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-09-18 -27.3 1.5 Benign 1 -139400 Simple 114367256 T . Benign 2 1 not specified 2013-12-02 . 4.0 . 0 -139402 Simple 184943897 C . Benign/Likely benign 2 3 Pitt-Hopkins syndrome;not specified 2016-07-15 -14.4 1.3333333333333333 Benign/Likely benign 0 -139403 Simple 187703131 T . Likely benign 2 2 Pitt-Hopkins syndrome;not specified 2017-09-27 -6.0 0.5 Likely benign 0 -139404 Simple 370160994 C . Benign/Likely benign 2 3 Pitt-Hopkins syndrome;not specified 2017-06-14 -9.9 2.0 Benign/Likely benign 0 -139405 Simple 368270265 A . Benign/Likely benign 2 3 Pitt-Hopkins syndrome;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -139406 Simple 142998298 G . Benign/Likely benign 2 3 Pitt-Hopkins syndrome;not specified 2017-07-21 -12.6 1.6666666666666667 Benign/Likely benign 0 -139407 Simple 552340151 T . Benign 2 3 Pitt-Hopkins syndrome;not specified 2016-07-02 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -139409 Simple 140862252 A . Benign 2 2 Pitt-Hopkins syndrome;not specified 2017-01-05 -10.2 2.5 Benign/Likely benign 1 -139411 Simple 151150677 T . Benign/Likely benign 2 5 Pitt-Hopkins syndrome;not specified 2017-03-28 -20.7 2.0 Benign/Likely benign 0 -139413 Simple 552239655 A . Benign/Likely benign 2 2 Pitt-Hopkins syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -139415 Simple 148658897 G . Benign/Likely benign 2 4 Pitt-Hopkins syndrome;not specified 2017-06-03 -18.0 2.0 Benign/Likely benign 0 -139416 Simple 7531245 C . Benign 2 2 Holt-Oram syndrome;not specified 2017-06-28 -10.8 1.5 Benign/Likely benign 1 -139527 Simple 202187871 T . Uncertain significance, risk factor 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-06-27 -0.6 0.0 Uncertain significance 0 -139635 Simple 587777526 C . Pathogenic 2 2 not provided;Helsmoortel-van der aa syndrome;Inborn genetic diseases 2017-10-03 10.8 1.5 Pathogenic/Likely pathogenic 1 -139644 Simple 587780563 A . Pathogenic 2 2 N-terminal acetyltransferase deficiency;not provided 2016-10-24 12.0 1.0 Pathogenic/Likely pathogenic 1 -139652 Simple 587780564 T . Pathogenic/Likely pathogenic 2 2 Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant;not provided;Hereditary motor and sensory neuropathy 2017-06-21 10.2 2.0 Pathogenic/Likely pathogenic 0 -140168 Simple 587781258 - . Pathogenic 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -140544 Simple 12792259 C . Benign 2 3 not specified;not provided;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -140546 Simple 35804601 G . Benign/Likely benign 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified;not provided 2017-07-03 -11.4 1.3333333333333333 Benign/Likely benign 0 -140550 Simple 35843353 G . Benign/Likely benign 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified;not provided 2017-08-08 -13.2 1.3333333333333333 Benign/Likely benign 0 -140553 Simple 137854526 C . Pathogenic/Likely pathogenic 2 2 Limb-girdle muscular dystrophy, type 2L;not provided 2017-02-27 8.4 1.5 Pathogenic/Likely pathogenic 0 -140740 Simple 587777570 A . Pathogenic 2 3 not provided;Cortical dysplasia, complex, with other brain malformations 2 2017-11-23 16.8 1.3333333333333333 Pathogenic 0 -140756 Simple 187289510 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -1.08 1.75 Uncertain significance 0 -140757 Simple 2070094 T . Benign/Likely benign 2 4 not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-08 -18.6 1.75 Benign/Likely benign 0 -140758 Simple 587781265 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-01 -0.5700000000000001 1.0 Uncertain significance 0 -140759 Simple 63750430 A . Uncertain significance 2 5 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -1.5 0.2 Uncertain significance 0 -140761 Simple 2229019 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-19 -19.2 1.5 Benign/Likely benign 0 -140762 Simple 3218677 T . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -140763 Simple 2234994 T . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-02-04 -14.4 3.0 Benign/Likely benign 1 -140766 Simple 3212321 C . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -140767 Simple 7823648 C . Benign/Likely benign 2 6 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -31.2 1.3333333333333333 Benign 1 -140768 Simple 34147298 T . Benign 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-08-14 -16.8 1.3333333333333333 Benign/Likely benign 1 -140769 Simple 12279930 G . Benign/Likely benign 2 3 Hereditary cancer-predisposing syndrome 2017-02-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -140770 Simple 3218687 G . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-19 -19.2 1.5 Benign/Likely benign 0 -140771 Simple 145936354 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2015-12-08 -5.4 2.0 Likely benign 0 -140772 Simple 587781269 A . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-09 24.0 0.0 Pathogenic 0 -140773 Simple 587781270 T . Pathogenic/Likely pathogenic 2 3 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2016-12-13 17.4 1.3333333333333333 Pathogenic 1 -140776 Simple 1805365 G . Benign 2 2 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2016-06-08 -9.6 3.0 Benign/Likely benign 1 -140777 Simple 587781273 G . Uncertain significance 2 4 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -1.17 0.75 Uncertain significance 0 -140779 Simple 61756469 T . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-15 -1.5 0.4 Uncertain significance 0 -140780 Simple 587781275 C . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -1.5 0.6 Uncertain significance 0 -140781 Simple 587781276 - . Pathogenic 2 5 Hereditary diffuse gastric cancer;not provided;Hereditary cancer-predisposing syndrome 2017-09-27 29.4 0.6 Pathogenic 0 -140782 Simple 587781277 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -5.7 1.0 Likely benign 0 -140783 Simple 587779981 A . Uncertain significance 2 3 Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2015-12-10 -0.78 2.3333333333333335 Uncertain significance 0 -140784 Simple 77312180 G . Benign 2 6 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -32.4 1.8333333333333333 Benign 0 -140785 Simple 587781278 - . Uncertain significance 2 6 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-09 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -140788 Simple 587781279 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -1.5 0.2 Uncertain significance 0 -140789 Simple 587781280 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-16 -0.45 3.5 Uncertain significance 0 -140790 Simple 659243 A . Benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-18 -10.8 1.5 Benign/Likely benign 1 -140791 Simple 373803765 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.5 Uncertain significance 0 -140792 Simple 587781281 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-20 -0.48 2.5 Uncertain significance 0 -140795 Simple 28997575 . . Benign 2 7 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -35.4 2.4285714285714284 Benign 0 -140797 Simple 587781285 AA . Benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -10.8 1.5 Benign/Likely benign 1 -140798 Simple 587781286 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-04-29 -0.84 1.3333333333333333 Uncertain significance 0 -140799 Simple 587781287 T . Pathogenic 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 29.4 0.8 Pathogenic 0 -140800 Simple 538230198 A . Uncertain significance 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.77 0.5 Uncertain significance 0 -140801 Simple 587781288 T . Pathogenic/Likely pathogenic 2 2 Multiple myeloma;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Kidney cancer;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Acute myeloid leukemia;Neoplasm of brain;Neoplasm of the breast;Renal cell carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Colorectal Neoplasms;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate 2017-06-10 9.0 0.5 Pathogenic/Likely pathogenic 0 -140803 Simple 587781290 AA . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-31 11.4 1.0 Pathogenic/Likely pathogenic 1 -140804 Simple 587779921 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-23 -0.6 0.5 Uncertain significance 0 -140805 Simple 377700348 T . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -1.2 0.25 Uncertain significance 0 -140806 Simple 2276330 C . Benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -140808 Simple 587781292 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-28 18.0 0.6666666666666666 Pathogenic 0 -140809 Simple 587781293 - . Benign 2 3 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2016-12-24 -16.2 2.0 Benign/Likely benign 1 -140810 Simple 587781294 T . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-16 -1.5 0.6 Uncertain significance 0 -140811 Simple 587781295 T . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-06-26 15.6 2.0 Pathogenic 0 -140812 Simple 17881716 T . Benign/Likely benign 2 5 Familial cancer of breast;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer 2016-06-14 -20.400000000000002 2.2 Benign/Likely benign 0 -140813 Simple 587781296 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.0 Uncertain significance 0 -140814 Simple 564930066 G . Uncertain significance 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -1.47 0.4 Uncertain significance 0 -140816 Simple 141432759 A . Uncertain significance 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -1.5 0.2 Uncertain significance 0 -140818 Simple 587781299 AA . Pathogenic/Likely pathogenic 2 6 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-14 31.5 1.0 Pathogenic 1 -140823 Simple 587781302 G . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-07-05 5.1 2.5 Likely pathogenic 0 -140825 Simple 373040333 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -0.8999999999999999 0.0 Uncertain significance 0 -140827 Simple 138775799 A . Pathogenic 2 4 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 24.0 0.25 Pathogenic 0 -140828 Simple 587781305 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-05-15 9.0 3.5 Pathogenic/Likely pathogenic 1 -140829 Simple 587781306 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-20 -0.5700000000000001 1.0 Uncertain significance 0 -140830 Simple 147754007 T . Uncertain significance 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -1.77 0.6666666666666666 Uncertain significance 0 -140832 Simple 3218684 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -1.2 0.0 Uncertain significance 0 -140833 Simple 587781307 T . Uncertain significance 2 3 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-11-08 -0.78 2.3333333333333335 Uncertain significance 0 -140834 Simple 587781308 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -1.2 0.5 Uncertain significance 0 -140835 Simple 199749372 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -1.2 0.5 Uncertain significance 0 -140836 Simple 199876321 G . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-14 -1.5 0.0 Uncertain significance 0 -140837 Simple 587781309 C . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -140838 Simple 587781310 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-03 -0.6 0.5 Uncertain significance 0 -140840 Simple 587781311 A . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -1.5 0.4 Uncertain significance 0 -140841 Simple 587781312 T . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-04-17 -1.5 0.4 Uncertain significance 0 -140842 Simple 587781313 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-06-30 -0.5700000000000001 1.5 Uncertain significance 0 -140844 Simple 587781315 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -0.48 2.5 Uncertain significance 0 -140846 Simple 11020793 C . Benign 2 4 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -21.0 2.0 Benign/Likely benign 1 -140848 Simple 587781318 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-30 -0.8999999999999999 0.0 Uncertain significance 0 -140849 Simple 200293302 T . Pathogenic 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 28.8 1.2 Pathogenic 0 -140851 Simple 587781320 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -140852 Simple 587781321 T . Pathogenic 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2017-10-04 36.0 0.3333333333333333 Pathogenic 0 -140853 Simple 201141645 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.8999999999999999 0.0 Uncertain significance 0 -140854 Simple 531178000 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -140857 Simple 587781324 TT . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-30 -15.3 2.5 Benign/Likely benign 0 -140858 Simple 587781325 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-11-06 -0.6 1.0 Uncertain significance 0 -140862 Simple 587781329 G . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.2 0.25 Uncertain significance 0 -140863 Simple 587781330 - . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-04 15.6 1.6666666666666667 Pathogenic 0 -140864 Simple 587781331 C . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-08 -1.44 1.2 Uncertain significance 0 -140866 Simple 63750119 A . Likely pathogenic 2 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-06 8.7 1.0 Pathogenic/Likely pathogenic 1 -140868 Simple 587781332 T . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.2 0.5 Uncertain significance 0 -140869 Simple 587781333 T . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -1.2 0.5 Uncertain significance 0 -140871 Simple 587781335 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2014-09-11 -0.44999999999999996 3.5 Uncertain significance 0 -140873 Simple 431825352 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -140874 Simple 587781337 T . Pathogenic/Likely pathogenic 2 1 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2015-10-12 . 2.0 . 0 -140875 Simple 146223579 G . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -18.0 0.75 Benign/Likely benign 0 -140876 Simple 587781338 A . Pathogenic 2 3 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-10-03 18.0 0.3333333333333333 Pathogenic 0 -140877 Simple 140342925 T . Pathogenic/Likely pathogenic 2 8 MYH-associated polyposis;Pilomatrixoma;Neoplasm of stomach;not provided;Hereditary cancer-predisposing syndrome 2017-09-27 41.4 0.75 Pathogenic 1 -140878 Simple 370973869 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -1.2 0.75 Uncertain significance 0 -140879 Simple 147515380 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -1.2 0.0 Uncertain significance 0 -140880 Simple 587781339 C . Pathogenic/Likely pathogenic 2 4 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-14 14.7 1.25 Pathogenic/Likely pathogenic 0 -140881 Simple 533475838 A . Uncertain significance 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -140885 Simple 587781343 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-10 -0.5700000000000001 1.0 Uncertain significance 0 -140887 Simple 587781345 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-25 -0.48 2.5 Uncertain significance 0 -140888 Simple 587781346 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-21 -0.5700000000000001 1.0 Uncertain significance 0 -140889 Simple 587781347 - . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-28 24.0 1.8 Pathogenic 1 -140890 Simple 528724202 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.2 0.5 Uncertain significance 0 -140892 Simple 587781349 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -0.6 0.0 Uncertain significance 0 -140893 Simple 587781350 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-17 -0.8999999999999999 0.0 Uncertain significance 0 -140894 Simple 144617793 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -140895 Simple 587781351 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -140897 Simple 587781353 AA . Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-06 11.1 1.5 Pathogenic/Likely pathogenic 1 -140899 Simple 587781355 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-10-09 12.0 1.0 Pathogenic/Likely pathogenic 1 -140901 Simple 587781357 GCCCTGCCCT . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-25 -0.78 2.0 Uncertain significance 0 -140902 Simple 587781358 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-12 -0.5700000000000001 1.5 Uncertain significance 0 -140904 Simple 587781360 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-19 -0.87 1.3333333333333333 Uncertain significance 0 -140907 Simple 587781363 T . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 18.0 0.0 Pathogenic 0 -140908 Simple 202197835 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -140910 Simple 587781365 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.2 0.25 Uncertain significance 0 -140911 Simple 115737081 C . Benign 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-08-19 -16.8 1.3333333333333333 Benign/Likely benign 1 -140912 Simple 587781366 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-22 -0.54 2.0 Uncertain significance 0 -140913 Simple 115414895 A . Benign/Likely benign 2 8 Fanconi anemia;Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2017-08-15 -40.2 1.25 Benign 1 -140918 Simple 116735828 T . Benign/Likely benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -24.6 1.6 Benign 1 -140919 Simple 587781369 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-18 -0.6 0.0 Uncertain significance 0 -140921 Simple 587781371 T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -140924 Simple 587781374 A . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-03 -0.8999999999999999 1.0 Uncertain significance 0 -140925 Simple 377289524 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -1.2 0.5 Uncertain significance 0 -140927 Simple 587781376 G . Uncertain significance 2 5 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-03 -1.5 0.4 Uncertain significance 0 -140928 Simple 587781377 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -1.2 0.5 Uncertain significance 0 -140931 Simple 375710541 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-08 -0.6 0.0 Uncertain significance 0 -140932 Simple 587781379 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-10 -1.2 0.5 Uncertain significance 0 -140933 Simple 141776984 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.2 0.0 Uncertain significance 0 -140934 Simple 587781380 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-07 -0.5700000000000001 1.5 Uncertain significance 0 -140936 Simple 587781381 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-17 11.4 1.0 Pathogenic/Likely pathogenic 1 -140938 Simple 564605612 A . Uncertain significance 2 7 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;not specified;Hereditary cancer-predisposing syndrome 2017-09-01 -2.07 0.42857142857142855 Uncertain significance 0 -140939 Simple 149217423 G . Uncertain significance 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-07-30 -0.8999999999999999 0.0 Uncertain significance 0 -140940 Simple 587781383 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.5 0.4 Uncertain significance 0 -140942 Simple 587781385 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-04-21 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -140945 Simple 587781388 - . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.35 1.6 Uncertain significance 0 -140946 Simple 115244417 C . Benign/Likely benign 2 4 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-08-01 -19.8 1.25 Benign/Likely benign 0 -140947 Simple 267608140 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -0.6 0.5 Uncertain significance 0 -140951 Simple 587779783 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-19 -0.5700000000000001 1.5 Uncertain significance 0 -140952 Simple 587781392 T . Pathogenic 2 4 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-09-01 22.8 1.0 Pathogenic 0 -140953 Simple 371077728 A . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-05-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -140955 Simple 587781393 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -1.2 0.25 Uncertain significance 0 -140956 Simple 587781394 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -140957 Simple 587781395 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-12-27 11.4 1.5 Pathogenic/Likely pathogenic 1 -140958 Simple 587781396 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -140959 Simple 375130261 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -1.47 0.4 Uncertain significance 0 -140961 Simple 587781398 - . Pathogenic 2 4 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-19 22.8 1.0 Pathogenic 0 -140962 Simple 587781399 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -140966 Simple 587781402 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-19 -0.5700000000000001 1.0 Uncertain significance 0 -140968 Simple 587781404 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-02-24 -0.51 2.5 Uncertain significance 0 -140972 Simple 587781408 A . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2014-06-02 9.0 3.5 Pathogenic/Likely pathogenic 1 -140973 Simple 373407069 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-15 -0.6 0.0 Uncertain significance 0 -140976 Simple 587781409 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-10-10 -0.6 0.0 Uncertain significance 0 -140978 Simple 587776428 - . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-06 14.4 1.0 Pathogenic/Likely pathogenic 0 -140979 Simple 35861031 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -140980 Simple 587781412 T . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -1.17 0.75 Uncertain significance 0 -140982 Simple 587781414 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -0.78 2.0 Uncertain significance 0 -140985 Simple 587781417 T . Uncertain significance 2 3 Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-04-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -140986 Simple 368547224 A . Uncertain significance 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -1.5 0.0 Uncertain significance 0 -140987 Simple 587781418 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.8999999999999999 0.0 Uncertain significance 0 -140988 Simple 587781419 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-01 -0.87 1.0 Uncertain significance 0 -140989 Simple 28897724 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-27 -0.8999999999999999 1.0 Uncertain significance 0 -140991 Simple 587781421 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-09-02 -0.51 2.5 Uncertain significance 0 -140992 Simple 587781422 TA . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-10 11.4 1.0 Pathogenic/Likely pathogenic 1 -140993 Simple 587781423 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -140995 Simple 587781425 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -1.2 0.25 Uncertain significance 0 -140998 Simple 587781427 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -141001 Simple 587781428 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -141005 Simple 587781430 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-10-09 16.2 1.3333333333333333 Pathogenic 0 -141006 Simple 199878086 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-09-11 -0.5700000000000001 1.5 Uncertain significance 0 -141007 Simple 149501505 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.2 0.5 Uncertain significance 0 -141008 Simple 56324666 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.47 1.0 Uncertain significance 0 -141009 Simple 587781431 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-30 -0.51 2.5 Uncertain significance 0 -141010 Simple 587781432 C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -141014 Simple 553907248 G . Uncertain significance 2 6 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -1.77 0.3333333333333333 Uncertain significance 0 -141015 Simple 587781436 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141016 Simple 139096339 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141018 Simple 587781437 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-01-04 -0.51 2.5 Uncertain significance 0 -141021 Simple 529543591 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-24 -1.08 1.75 Uncertain significance 0 -141022 Simple 145101532 G . Uncertain significance 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.5 0.2 Uncertain significance 0 -141025 Simple 587781442 . . Pathogenic/Likely pathogenic 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-06-12 13.8 1.3333333333333333 Pathogenic/Likely pathogenic 0 -141028 Simple 587781444 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-02-27 -0.6 1.0 Uncertain significance 0 -141030 Simple 73517551 A . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-09-14 -0.6 0.0 Uncertain significance 0 -141031 Simple 587781446 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-15 -0.8999999999999999 0.0 Uncertain significance 0 -141032 Simple 587781447 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -1.2 0.75 Uncertain significance 0 -141033 Simple 2285895 A . Benign/Likely benign 2 8 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -30.6 1.25 Benign 1 -141035 Simple 577834428 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.2 0.5 Uncertain significance 0 -141036 Simple 147695170 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-26 -1.2 0.0 Uncertain significance 0 -141037 Simple 587781449 - . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-11 16.8 1.6666666666666667 Pathogenic 0 -141040 Simple 587781451 TT . Pathogenic/Likely pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-30 16.8 1.3333333333333333 Pathogenic 1 -141042 Simple 587781453 C . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-08 -1.5 0.6 Uncertain significance 0 -141045 Simple 587781454 AA . Pathogenic 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-07-24 18.0 0.6666666666666666 Pathogenic 0 -141046 Simple 370968992 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -1.2 0.25 Uncertain significance 0 -141050 Simple 554708247 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-07 -0.8999999999999999 0.0 Uncertain significance 0 -141051 Simple 587781456 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141052 Simple 145031602 A . Uncertain significance 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-08-15 -0.8999999999999999 0.0 Uncertain significance 0 -141053 Simple 587781457 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-21 12.0 1.0 Pathogenic/Likely pathogenic 1 -141055 Simple 587781459 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-03 -0.51 2.5 Uncertain significance 0 -141057 Simple 587781461 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -141059 Simple 587781463 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -0.8999999999999999 0.0 Uncertain significance 0 -141060 Simple 567733221 C . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -1.2 0.0 Uncertain significance 0 -141061 Simple 587781464 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-02-11 -0.54 2.0 Uncertain significance 0 -141067 Simple 587781469 - . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-24 -1.17 1.0 Uncertain significance 0 -141068 Simple 587781470 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 23.4 1.25 Pathogenic 0 -141070 Simple 587781471 G . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 45.0 1.0 Pathogenic 0 -141075 Simple 587781476 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -0.8099999999999999 2.0 Uncertain significance 0 -141085 Simple 587781482 G . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -1.5 0.6 Uncertain significance 0 -141087 Simple 587781484 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141089 Simple 369744528 A . Uncertain significance 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -1.5 0.6 Uncertain significance 0 -141091 Simple 587781487 AA . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -141093 Simple 373655067 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -141094 Simple 587781489 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-17 -0.6 0.5 Uncertain significance 0 -141095 Simple 587781490 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-04-12 10.8 2.0 Pathogenic/Likely pathogenic 1 -141100 Simple 587781494 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-06-08 -0.51 2.5 Uncertain significance 0 -141101 Simple 587781495 T . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.0 Uncertain significance 0 -141103 Simple 587781496 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-26 -0.51 2.5 Uncertain significance 0 -141104 Simple 587781497 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -1.17 0.75 Uncertain significance 0 -141105 Simple 587781498 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -1.2 0.75 Uncertain significance 0 -141106 Simple 118029772 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -141108 Simple 587781500 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -1.17 0.5 Uncertain significance 0 -141110 Simple 587781501 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-28 -0.51 2.5 Uncertain significance 0 -141111 Simple 373407950 T . Uncertain significance 2 3 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-15 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141112 Simple 587781502 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-15 -0.5700000000000001 1.0 Uncertain significance 0 -141113 Simple 587781503 G . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.87 1.0 Uncertain significance 0 -141115 Simple 587781505 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141116 Simple 373563053 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -141117 Simple 138212452 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -0.8999999999999999 0.0 Uncertain significance 0 -141118 Simple 587781506 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -141121 Simple 587781509 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141122 Simple 587781510 C . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -1.5 0.8 Uncertain significance 0 -141126 Simple 587781513 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141127 Simple 587781514 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.84 1.3333333333333333 Uncertain significance 0 -141128 Simple 587781515 T . Uncertain significance 2 6 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.7999999999999998 0.5 Uncertain significance 0 -141129 Simple 587781516 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141133 Simple 587781519 - . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.87 0.6666666666666666 Uncertain significance 0 -141135 Simple 140156029 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -1.2 0.0 Uncertain significance 0 -141136 Simple 373073383 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -1.2 0.25 Uncertain significance 0 -141137 Simple 587781521 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-10-27 -0.54 2.0 Uncertain significance 0 -141138 Simple 587781522 C . Uncertain significance 2 4 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-04-11 -1.2 0.5 Uncertain significance 0 -141139 Simple 587781523 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-17 -0.54 1.5 Uncertain significance 0 -141143 Simple 587781527 AACCTCA . Pathogenic 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-03-02 11.4 1.5 Pathogenic/Likely pathogenic 1 -141146 Simple 587781530 A . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.2 0.5 Uncertain significance 0 -141149 Simple 587781532 TAA . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-04-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141151 Simple 142619269 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.87 0.6666666666666666 Uncertain significance 0 -141152 Simple 587781534 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-17 -0.51 2.0 Uncertain significance 0 -141153 Simple 56331088 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-08-04 -0.75 2.6666666666666665 Uncertain significance 0 -141154 Simple 587781535 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-24 -0.54 2.0 Uncertain significance 0 -141155 Simple 587781536 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-01-17 -0.87 1.3333333333333333 Uncertain significance 0 -141156 Simple 587781537 G . Uncertain significance 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.5 0.4 Uncertain significance 0 -141159 Simple 375444154 A . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.17 0.75 Uncertain significance 0 -141160 Simple 372182377 G . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -1.5 0.6 Uncertain significance 0 -141162 Simple 80359156 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 24.6 0.75 Pathogenic 0 -141168 Simple 587781546 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -141169 Simple 587781547 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Malignant tumor of prostate;Hereditary cancer-predisposing syndrome 2016-07-15 -0.87 1.3333333333333333 Uncertain significance 0 -141175 Simple 374196453 T . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.2 0.5 Uncertain significance 0 -141176 Simple 587781553 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-27 -0.51 2.0 Uncertain significance 0 -141177 Simple 587781554 AA . Pathogenic 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2014-10-11 13.8 3.3333333333333335 Pathogenic/Likely pathogenic 1 -141179 Simple 587781556 A . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141180 Simple 376044376 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.5 Uncertain significance 0 -141182 Simple 587781558 A . Pathogenic/Likely pathogenic 2 6 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 31.2 1.1666666666666667 Pathogenic 1 -141183 Simple 201762714 G . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome;Bilateral Breast Carcinoma 2017-08-04 -1.2 0.0 Uncertain significance 0 -141184 Simple 587781559 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-05-26 -0.54 2.0 Uncertain significance 0 -141185 Simple 587781560 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-04-20 17.4 0.6666666666666666 Pathogenic 0 -141186 Simple 189961251 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-07-02 -0.48 3.0 Uncertain significance 0 -141187 Simple 587781561 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.5 Uncertain significance 0 -141188 Simple 369778514 G . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.5 Uncertain significance 0 -141191 Simple 139618756 A . Uncertain significance 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -1.77 0.6666666666666666 Uncertain significance 0 -141192 Simple 9282859 T . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -19.2 1.5 Benign/Likely benign 0 -141195 Simple 587781566 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141198 Simple 140112347 A . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -19.2 1.5 Benign/Likely benign 0 -141199 Simple 397507296 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -141201 Simple 587781570 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-29 -0.8999999999999999 0.0 Uncertain significance 0 -141202 Simple 587781571 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -141205 Simple 587781574 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-07-21 -0.8099999999999999 2.0 Uncertain significance 0 -141212 Simple 587781580 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-18 -0.78 2.0 Uncertain significance 0 -141213 Simple 80358870 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141215 Simple 587781582 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-05 -0.6 0.5 Uncertain significance 0 -141217 Simple 587781583 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-16 -0.6 0.0 Uncertain significance 0 -141219 Simple 587781585 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -141225 Simple 149101834 T . Benign/Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-07-28 -8.4 1.0 Benign/Likely benign 0 -141228 Simple 200579969 T . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -1.2 0.25 Uncertain significance 0 -141230 Simple 140333740 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.0 Uncertain significance 0 -141231 Simple 587781592 A . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-05-22 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -141232 Simple 587781593 T . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -1.2 0.25 Uncertain significance 0 -141233 Simple 377349459 A . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 26.4 1.2 Pathogenic 1 -141237 Simple 7207410 T . Benign/Likely benign 2 8 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-08-19 -31.8 1.0 Benign 1 -141238 Simple 587781595 A . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -1.2 0.25 Uncertain significance 0 -141239 Simple 587781596 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-01 -0.87 1.0 Uncertain significance 0 -141240 Simple 587781597 A . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-19 12.0 1.0 Pathogenic/Likely pathogenic 1 -141241 Simple 587781598 - . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-01 19.5 1.75 Pathogenic 1 -141242 Simple 142849100 T . Benign/Likely benign 2 6 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -25.8 1.1666666666666667 Benign 1 -141243 Simple 587781599 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.0 Uncertain significance 0 -141245 Simple 191394143 T . Benign/Likely benign 2 5 Melanoma-pancreatic cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -25.8 1.0 Benign 1 -141246 Simple 587781601 G . Uncertain significance 2 4 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-03 -1.17 1.0 Uncertain significance 0 -141249 Simple 587781603 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-21 -0.51 2.5 Uncertain significance 0 -141254 Simple 587781606 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-30 -0.51 2.5 Uncertain significance 0 -141255 Simple 587781607 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141256 Simple 144944814 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-14 -0.6 0.0 Uncertain significance 0 -141258 Simple 587781609 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -0.5700000000000001 1.5 Uncertain significance 0 -141260 Simple 587781611 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -141261 Simple 587781612 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.5700000000000001 1.0 Uncertain significance 0 -141263 Simple 587781614 - . Uncertain significance 2 2 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -141265 Simple 587781616 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-13 -1.2 0.25 Uncertain significance 0 -141268 Simple 587781619 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-10-17 -0.51 2.5 Uncertain significance 0 -141269 Simple 587781620 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141270 Simple 587781621 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-12 -0.87 1.3333333333333333 Uncertain significance 0 -141273 Simple 199657566 G . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141276 Simple 201093383 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.47 0.8 Uncertain significance 0 -141279 Simple 587781625 AA . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-11-30 10.2 2.5 Pathogenic/Likely pathogenic 1 -141280 Simple 587781626 C . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-17 12.0 0.5 Pathogenic/Likely pathogenic 1 -141282 Simple 587781628 C . Pathogenic/Likely pathogenic 2 6 MYH-associated polyposis;Carcinoma of colon;not provided;Hereditary cancer-predisposing syndrome 2017-06-26 31.8 1.0 Pathogenic 1 -141283 Simple 587781629 A . Pathogenic/Likely pathogenic 2 8 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-13 33.0 1.25 Pathogenic 1 -141284 Simple 587781630 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-23 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -141286 Simple 587781632 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -141287 Simple 587781633 G . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast carcinoma 2017-06-30 -1.2 0.5 Uncertain significance 0 -141288 Simple 587781634 T . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.5 0.0 Uncertain significance 0 -141289 Simple 587781635 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-09-16 -0.48 3.0 Uncertain significance 0 -141293 Simple 587781637 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-10 -1.1099999999999999 1.75 Uncertain significance 0 -141296 Simple 63749919 T . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -141299 Simple 186240214 T . Uncertain significance 2 6 Endometrial carcinoma;Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -1.77 0.3333333333333333 Uncertain significance 0 -141300 Simple 540273429 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -0.8999999999999999 0.0 Uncertain significance 0 -141301 Simple 587781641 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-09 -0.5700000000000001 1.5 Uncertain significance 0 -141303 Simple 80356847 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -3.51 2.0 Uncertain significance 2 -141305 Simple 587781644 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-27 -0.6 1.0 Uncertain significance 0 -141306 Simple 587781645 G . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.17 0.75 Uncertain significance 0 -141307 Simple 587781646 T . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-09-25 -0.6 0.0 Uncertain significance 0 -141308 Simple 587781647 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-08 -0.84 1.6666666666666667 Uncertain significance 0 -141314 Simple 587781652 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141315 Simple 587781653 - . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-01 18.0 1.0 Pathogenic 0 -141318 Simple 61757643 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -1.2 0.5 Uncertain significance 0 -141319 Simple 587781655 T . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not provided;Hereditary cancer-predisposing syndrome 2017-09-08 14.4 1.0 Pathogenic/Likely pathogenic 0 -141320 Simple 200283306 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.17 0.5 Uncertain significance 0 -141322 Simple 587781657 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-07 -0.6 1.0 Uncertain significance 0 -141323 Simple 546073780 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -141324 Simple 140804406 T . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -0.8999999999999999 0.0 Uncertain significance 0 -141325 Simple 587781658 - . Pathogenic/Likely pathogenic 2 6 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-02-27 32.7 1.1666666666666667 Pathogenic 1 -141327 Simple 564434147 C . Uncertain significance 2 6 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-21 -1.77 0.5 Uncertain significance 0 -141328 Simple 587781660 - . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.2 0.5 Uncertain significance 0 -141332 Simple 587781664 C . Pathogenic 2 3 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-12 18.0 0.3333333333333333 Pathogenic 0 -141333 Simple 8176219 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 -0.5700000000000001 1.0 Uncertain significance 0 -141334 Simple 587781665 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141336 Simple 587781666 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -141337 Simple 587781667 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-10 -1.5 0.4 Uncertain significance 0 -141338 Simple 556444929 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-21 -0.5700000000000001 1.0 Uncertain significance 0 -141339 Simple 587781668 A . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141340 Simple 587781669 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141341 Simple 587781670 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-13 -0.5700000000000001 1.0 Uncertain significance 0 -141344 Simple 587781672 T . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-10 8.4 1.5 Pathogenic/Likely pathogenic 0 -141345 Simple 372188754 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.47 0.8 Uncertain significance 0 -141346 Simple 587781673 A . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome 2016-08-29 -0.81 2.0 Uncertain significance 0 -141347 Simple 587781674 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.54 1.5 Uncertain significance 0 -141350 Simple 587781677 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-15 -0.6 0.5 Uncertain significance 0 -141351 Simple 587781678 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-28 -1.2 0.5 Uncertain significance 0 -141354 Simple 587781681 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -1.2 0.5 Uncertain significance 0 -141355 Simple 587781682 A . Pathogenic 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-08-14 22.2 1.5 Pathogenic 0 -141359 Simple 150607408 T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -141361 Simple 587781687 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-14 -0.51 2.5 Uncertain significance 0 -141362 Simple 587781688 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-22 -0.6 1.0 Uncertain significance 0 -141363 Simple 587781689 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 6.39 2.5 Likely pathogenic 2 -141364 Simple 587781690 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141365 Simple 587781691 - . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-20 12.0 1.0 Pathogenic/Likely pathogenic 1 -141366 Simple 587781692 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-08-03 -0.54 2.0 Uncertain significance 0 -141368 Simple 587781694 - . Pathogenic 2 4 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-07-03 20.4 2.25 Pathogenic 0 -141369 Simple 145191978 A . Uncertain significance 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -0.87 1.0 Uncertain significance 0 -141371 Simple 587781696 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.2 0.75 Uncertain significance 0 -141372 Simple 587781697 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-09-13 10.8 2.0 Pathogenic/Likely pathogenic 1 -141373 Simple 587781698 T . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 15.0 0.3333333333333333 Pathogenic 1 -141374 Simple 587781699 T . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-07 5.4 1.5 Likely pathogenic 0 -141376 Simple 587781701 A . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -1.47 0.6 Uncertain significance 0 -141377 Simple 587781702 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -141379 Simple 587781704 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-11-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -141380 Simple 199845467 T . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.25 Uncertain significance 0 -141382 Simple 368796923 A . Pathogenic/Likely pathogenic 2 5 Fanconi anemia, complementation group J;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2017-09-25 24.0 0.4 Pathogenic 1 -141384 Simple 587781707 C . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;Breast cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome 2017-09-26 33.0 0.6666666666666666 Pathogenic 1 -141385 Simple 587781708 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -0.84 1.3333333333333333 Uncertain significance 0 -141387 Simple 587781710 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-11-21 -0.8099999999999999 2.0 Uncertain significance 0 -141389 Simple 587781712 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -0.8999999999999999 0.0 Uncertain significance 0 -141393 Simple 199703296 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-22 -0.51 2.0 Uncertain significance 0 -141395 Simple 587781716 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-10 16.2 1.6666666666666667 Pathogenic 0 -141396 Simple 267608015 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-22 -0.8999999999999999 1.0 Uncertain significance 0 -141398 Simple 587781718 - . Pathogenic/Likely pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-02-03 6.9 3.0 Likely pathogenic 1 -141399 Simple 587781719 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.87 0.6666666666666666 Uncertain significance 0 -141400 Simple 538383136 G . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -1.2 0.5 Uncertain significance 0 -141402 Simple 542698396 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -1.17 0.75 Uncertain significance 0 -141404 Simple 587781722 T . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-15 24.0 0.5 Pathogenic 0 -141405 Simple 587781723 A . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-11-04 -0.6 1.0 Uncertain significance 0 -141406 Simple 587781724 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-18 -0.6 1.0 Uncertain significance 0 -141407 Simple 587781725 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-05-27 -0.5700000000000001 1.5 Uncertain significance 0 -141414 Simple 199736271 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-03-31 -0.5700000000000001 1.5 Uncertain significance 0 -141416 Simple 587781730 AA . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-21 26.4 0.6 Pathogenic 1 -141418 Simple 587781732 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-19 -0.54 1.5 Uncertain significance 0 -141419 Simple 587781733 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-07 -0.6 0.5 Uncertain significance 0 -141420 Simple 587781734 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -141425 Simple 587781736 G . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -1.17 0.75 Uncertain significance 0 -141428 Simple 587781737 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-30 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -141431 Simple 587781740 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-31 -0.5700000000000001 1.5 Uncertain significance 0 -141432 Simple 587781741 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-14 -0.51 2.5 Uncertain significance 0 -141434 Simple 587781743 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-19 -0.54 2.0 Uncertain significance 0 -141437 Simple 587781745 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-24 -0.51 2.5 Uncertain significance 0 -141442 Simple 587781750 A . Uncertain significance 2 4 Lynch syndrome II;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-17 -1.17 0.75 Uncertain significance 0 -141445 Simple 587781753 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.6 0.5 Uncertain significance 0 -141447 Simple 200196781 A . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-20 27.0 0.4 Pathogenic 1 -141448 Simple 587781755 G . Uncertain significance 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-16 -0.87 1.0 Uncertain significance 0 -141449 Simple 276174915 - . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2015-11-23 18.3 2.5 Pathogenic 1 -141452 Simple 587781756 A . Pathogenic/Likely pathogenic 2 5 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-09-26 27.0 0.4 Pathogenic 1 -141453 Simple 201361465 T . Likely benign 2 6 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -18.0 0.5 Benign/Likely benign 1 -141457 Simple 587781760 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 -0.51 2.0 Uncertain significance 0 -141458 Simple 587781761 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -1.71 1.0 Uncertain significance 0 -141459 Simple 587781762 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -141468 Simple 587781771 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-12 -0.51 2.0 Uncertain significance 0 -141469 Simple 587781772 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -141472 Simple 587781774 T . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -8.7 1.0 Benign/Likely benign 1 -141473 Simple 587781775 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-08-06 -0.44999999999999996 3.5 Uncertain significance 0 -141474 Simple 587781776 - . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-20 24.0 0.25 Pathogenic 0 -141475 Simple 587781777 G . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome 2017-04-25 -0.87 1.0 Uncertain significance 0 -141478 Simple 55796504 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.47 1.0 Uncertain significance 0 -141484 Simple 587781783 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141485 Simple 587781784 G . Pathogenic 2 2 Cowden syndrome 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -141486 Simple 587781785 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -1.2 0.75 Uncertain significance 0 -141487 Simple 587781786 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-03-07 11.4 1.5 Pathogenic/Likely pathogenic 1 -141488 Simple 587781787 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-11 -6.0 1.0 Likely benign 0 -141490 Simple 587781789 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.51 2.0 Uncertain significance 0 -141492 Simple 376555330 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -141496 Simple 3205809 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141498 Simple 587781794 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141502 Simple 587781796 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-03 -0.51 2.5 Uncertain significance 0 -141504 Simple 587781798 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-10 -0.5700000000000001 1.5 Uncertain significance 0 -141505 Simple 587781799 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141506 Simple 587781800 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-03 -1.2 1.0 Uncertain significance 0 -141507 Simple 587781801 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.5 Uncertain significance 0 -141508 Simple 587781802 C . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.2 0.75 Uncertain significance 0 -141509 Simple 587781803 - . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 35.4 1.0 Pathogenic 0 -141510 Simple 587781804 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141513 Simple 587781807 CC . Pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 17.4 0.6666666666666666 Pathogenic 0 -141515 Simple 587781809 A . Pathogenic/Likely pathogenic 2 6 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-07-27 20.4 0.5 Pathogenic 1 -141518 Simple 587781812 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-29 -0.51 2.5 Uncertain significance 0 -141519 Simple 587781813 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.5 0.6 Uncertain significance 0 -141521 Simple 374892194 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -1.1400000000000001 1.0 Uncertain significance 0 -141523 Simple 587780062 C . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -1.17 0.75 Uncertain significance 0 -141525 Simple 587781817 T . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141527 Simple 587776410 - . Pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-04-01 29.4 0.8 Pathogenic 0 -141531 Simple 587781821 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-28 -0.51 2.5 Uncertain significance 0 -141532 Simple 372385738 A . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-09-13 -0.6 0.0 Uncertain significance 0 -141533 Simple 587781822 C . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-12-01 5.7 1.5 Likely pathogenic 0 -141534 Simple 587781823 TT . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-27 16.8 1.3333333333333333 Pathogenic 0 -141535 Simple 587781824 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.1099999999999999 1.25 Uncertain significance 0 -141536 Simple 587781825 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -141539 Simple 144192844 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.77 1.0 Uncertain significance 0 -141540 Simple 80357160 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-28 -0.48 3.0 Uncertain significance 0 -141541 Simple 587781827 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-14 -0.51 2.5 Uncertain significance 0 -141543 Simple 587781829 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.2 0.75 Uncertain significance 0 -141544 Simple 576878377 C . Benign/Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-08 -9.0 0.5 Benign/Likely benign 0 -141545 Simple 587781830 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -1.2 0.25 Uncertain significance 0 -141546 Simple 587781831 - . Pathogenic 2 4 not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-13 24.0 0.0 Pathogenic 0 -141547 Simple 587781832 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -0.6 0.0 Uncertain significance 0 -141549 Simple 587781833 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-01 -0.51 2.5 Uncertain significance 0 -141551 Simple 587781835 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -141554 Simple 367840862 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.5 Uncertain significance 0 -141555 Simple 375218200 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-06 -0.6 1.0 Uncertain significance 0 -141556 Simple 587781837 - . Pathogenic 2 3 Breast cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 16.2 1.6666666666666667 Pathogenic 0 -141559 Simple 34099398 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-07 -1.2 0.5 Uncertain significance 0 -141560 Simple 587781840 - . Pathogenic 2 5 Familial cancer of breast;Breast cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome 2017-02-27 28.8 1.4 Pathogenic 0 -141561 Simple 587781841 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -0.84 1.0 Uncertain significance 0 -141565 Simple 587781844 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -0.51 2.0 Uncertain significance 0 -141566 Simple 587781845 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.87 1.0 Uncertain significance 0 -141570 Simple 33969373 T . Benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -22.2 1.5 Benign/Likely benign 1 -141572 Simple 587781849 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141573 Simple 587781850 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -141574 Simple 587778029 - . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.2 0.5 Uncertain significance 0 -141577 Simple 587781854 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-09 -0.51 2.5 Uncertain significance 0 -141579 Simple 35203200 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.8999999999999999 0.0 Uncertain significance 0 -141585 Simple 41295296 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.87 1.0 Uncertain significance 0 -141586 Simple 146306756 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-06 -0.5700000000000001 1.0 Uncertain significance 0 -141588 Simple 375699023 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-23 -0.8999999999999999 0.0 Uncertain significance 0 -141589 Simple 139598980 G . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-06 -1.47 0.6 Uncertain significance 0 -141590 Simple 587781860 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141591 Simple 587781861 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141593 Simple 587781863 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.0 Uncertain significance 0 -141594 Simple 148540952 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-06 -0.5700000000000001 1.0 Uncertain significance 0 -141596 Simple 587781865 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141597 Simple 587781866 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -0.84 1.6666666666666667 Uncertain significance 0 -141598 Simple 587781867 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-06 -0.51 2.5 Uncertain significance 0 -141599 Simple 587781868 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -0.8999999999999999 0.0 Uncertain significance 0 -141603 Simple 587781870 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-11 10.2 2.0 Pathogenic/Likely pathogenic 1 -141606 Simple 138143769 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-09-16 -0.54 2.0 Uncertain significance 0 -141608 Simple 587781874 C . Uncertain significance 2 3 Familial cancer of breast;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-05-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141609 Simple 587781875 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141613 Simple 587781879 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-31 -0.87 0.6666666666666666 Uncertain significance 0 -141614 Simple 192816572 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.25 Uncertain significance 0 -141617 Simple 587781881 A . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.2 0.25 Uncertain significance 0 -141618 Simple 35540155 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -1.14 1.0 Uncertain significance 0 -141624 Simple 587781887 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-09-20 -0.8999999999999999 1.0 Uncertain significance 0 -141626 Simple 587781889 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-05-01 -0.81 1.6666666666666667 Uncertain significance 0 -141628 Simple 564216039 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.54 1.5 Uncertain significance 0 -141629 Simple 56248502 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -1.05 2.0 Uncertain significance 0 -141630 Simple 376338226 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -1.08 1.75 Uncertain significance 0 -141631 Simple 587781891 - . Pathogenic 2 4 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-06-13 24.0 0.5 Pathogenic 0 -141633 Simple 587781893 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-12-15 -0.51 2.5 Uncertain significance 0 -141634 Simple 587781894 A . Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-11 12.0 0.0 Pathogenic/Likely pathogenic 1 -141635 Simple 151046636 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-12 -0.54 1.5 Uncertain significance 0 -141639 Simple 587781898 A . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.44 1.0 Uncertain significance 0 -141640 Simple 587781899 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-09 -0.5700000000000001 1.0 Uncertain significance 0 -141644 Simple 199875915 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141646 Simple 587781904 A . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-09-29 11.4 1.5 Pathogenic/Likely pathogenic 1 -141647 Simple 587781905 - . Pathogenic 2 6 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-30 35.4 0.6666666666666666 Pathogenic 0 -141650 Simple 587781908 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-26 -0.5700000000000001 1.5 Uncertain significance 0 -141651 Simple 587781909 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-06 -0.8999999999999999 0.0 Uncertain significance 0 -141652 Simple 587781910 GTGTCAGGTGTCAG . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-11-17 10.2 2.5 Pathogenic/Likely pathogenic 1 -141654 Simple 587781912 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-04-24 10.2 2.5 Pathogenic/Likely pathogenic 1 -141655 Simple 587781913 A . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 -1.2 0.75 Uncertain significance 0 -141657 Simple 587781915 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-25 -0.5700000000000001 1.5 Uncertain significance 0 -141660 Simple 587781918 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-12 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -141663 Simple 587781921 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2016-08-20 -0.78 2.3333333333333335 Uncertain significance 0 -141664 Simple 6972869 G . Benign/Likely benign 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-21 -24.0 1.8 Benign 1 -141666 Simple 587781923 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-20 -0.5700000000000001 1.5 Uncertain significance 0 -141667 Simple 587778533 TT . Pathogenic 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-13 18.0 0.6666666666666666 Pathogenic 0 -141670 Simple 146359990 G . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -9.0 0.6666666666666666 Benign/Likely benign 1 -141672 Simple 587781927 C . Pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-11-11 12.0 1.0 Pathogenic/Likely pathogenic 1 -141676 Simple 556778314 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -1.2 0.5 Uncertain significance 0 -141681 Simple 376494248 T . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -1.47 0.6 Uncertain significance 0 -141683 Simple 587781934 T . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -1.47 0.8 Uncertain significance 0 -141686 Simple 587781937 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -0.51 2.0 Uncertain significance 0 -141689 Simple 587781939 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141690 Simple 538289470 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -141691 Simple 587781940 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-21 -0.6 0.0 Uncertain significance 0 -141694 Simple 62620988 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.2 0.0 Uncertain significance 0 -141695 Simple 587781943 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141696 Simple 587781944 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-17 -0.6 0.0 Uncertain significance 0 -141697 Simple 587781945 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141698 Simple 199616792 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-11-13 -0.5700000000000001 1.5 Uncertain significance 0 -141699 Simple 145741748 C . Likely benign 2 5 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -15.0 0.8 Benign/Likely benign 1 -141700 Simple 587781946 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-10 -0.6 1.0 Uncertain significance 0 -141702 Simple 587781948 A . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-04-16 24.0 0.75 Pathogenic 0 -141703 Simple 587781949 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -141704 Simple 587781950 T . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-06 18.0 0.6666666666666666 Pathogenic 0 -141707 Simple 200615280 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-08-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141709 Simple 587781954 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -1.2 0.5 Uncertain significance 0 -141710 Simple 374739820 G . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-06 -0.87 1.3333333333333333 Uncertain significance 0 -141711 Simple 138227618 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-30 -0.6 0.5 Uncertain significance 0 -141713 Simple 377043696 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -0.8999999999999999 0.0 Uncertain significance 0 -141714 Simple 587781956 CT . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -141718 Simple 587781960 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.0 Uncertain significance 0 -141719 Simple 587781961 - . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -141725 Simple 41464156 A . Benign/Likely benign 2 4 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome;Spontaneous pneumothorax 2017-08-07 -14.4 1.25 Benign/Likely benign 0 -141726 Simple 587781967 T . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-20 9.0 1.0 Pathogenic/Likely pathogenic 0 -141727 Simple 529845940 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141728 Simple 587781968 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -0.51 2.0 Uncertain significance 0 -141730 Simple 144911328 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-06 -0.6 0.0 Uncertain significance 0 -141731 Simple 587781969 - . Pathogenic/Likely pathogenic 2 6 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-10-18 30.0 0.3333333333333333 Pathogenic 1 -141732 Simple 144557787 T . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-27 -7.8 1.5 Likely benign 1 -141733 Simple 587781970 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-21 -0.6 0.5 Uncertain significance 0 -141734 Simple 587781971 - . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-16 15.0 0.3333333333333333 Pathogenic 1 -141735 Simple 587781972 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-31 -0.51 2.5 Uncertain significance 0 -141738 Simple 587781975 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-29 -0.84 1.3333333333333333 Uncertain significance 0 -141740 Simple 587781977 G . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-03-08 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -141741 Simple 41286294 C . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-08 -1.38 1.4 Uncertain significance 0 -141742 Simple 1060499601 - . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-26 24.0 0.5 Pathogenic 0 -141744 Simple 45468199 T . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -1.5 0.4 Uncertain significance 0 -141745 Simple 587781979 - . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.2 0.25 Uncertain significance 0 -141746 Simple 587781980 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-09-22 -0.5700000000000001 1.5 Uncertain significance 0 -141747 Simple 146641724 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-11 -0.6 0.5 Uncertain significance 0 -141748 Simple 587781981 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-13 -0.48 3.0 Uncertain significance 0 -141749 Simple 587781982 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -141750 Simple 2235002 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.2 0.0 Uncertain significance 0 -141751 Simple 587781983 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141752 Simple 587781984 TT . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-12 10.2 2.5 Pathogenic/Likely pathogenic 1 -141753 Simple 587781985 C . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2017-04-26 24.0 0.5 Pathogenic 1 -141754 Simple 375246789 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.5 Uncertain significance 0 -141757 Simple 201793499 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-20 -0.6 1.0 Uncertain significance 0 -141761 Simple 150313156 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -0.87 0.6666666666666666 Uncertain significance 0 -141763 Simple 587781992 G . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -1.2 0.5 Uncertain significance 0 -141766 Simple 587781994 T . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-19 7.2 2.5 Likely pathogenic 1 -141767 Simple 80207011 G . Benign/Likely benign 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-09-20 -11.7 0.6666666666666666 Benign/Likely benign 0 -141768 Simple 587781995 - . Pathogenic/Likely pathogenic 2 4 Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-08-26 18.0 0.25 Pathogenic 1 -141769 Simple 587781996 A . Uncertain significance 2 3 not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141771 Simple 587781998 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-02 -0.54 2.0 Uncertain significance 0 -141773 Simple 587782000 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-05-24 -0.8099999999999999 2.0 Uncertain significance 0 -141774 Simple 375478525 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -0.87 1.0 Uncertain significance 0 -141775 Simple 587782001 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141776 Simple 587782002 - . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.87 0.6666666666666666 Uncertain significance 0 -141777 Simple 587782003 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -141778 Simple 587782004 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-11 -0.51 2.5 Uncertain significance 0 -141779 Simple 587782005 A . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 24.0 0.5 Pathogenic 0 -141782 Simple 587782007 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.47 1.0 Uncertain significance 0 -141785 Simple 138273800 G . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.47 0.6 Uncertain significance 0 -141787 Simple 587782010 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141788 Simple 587782011 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -141791 Simple 587782014 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-02 -0.84 1.0 Uncertain significance 0 -141792 Simple 587782015 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-03 -0.87 1.3333333333333333 Uncertain significance 0 -141793 Simple 587782016 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-02 -0.87 1.0 Uncertain significance 0 -141798 Simple 587782021 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.47 1.0 Uncertain significance 0 -141799 Simple 587782022 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141800 Simple 543980602 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.2 0.5 Uncertain significance 0 -141801 Simple 587782023 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141802 Simple 587782024 T . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.5 0.0 Uncertain significance 0 -141803 Simple 587782025 C . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-02-10 -1.1400000000000001 1.5 Uncertain significance 0 -141804 Simple 587782026 C . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.05 1.75 Uncertain significance 0 -141807 Simple 373227180 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -1.5 0.8 Uncertain significance 0 -141808 Simple 80357035 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-27 -0.78 2.3333333333333335 Uncertain significance 0 -141811 Simple 587782028 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -141812 Simple 587782029 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-08-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141816 Simple 545276922 C . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -1.2 0.25 Uncertain significance 0 -141817 Simple 587782033 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -1.2 0.25 Uncertain significance 0 -141819 Simple 2230851 T . Benign/Likely benign 2 5 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -24.3 1.8 Benign 1 -141823 Simple 587782036 C . Likely pathogenic 2 3 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-25 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -141824 Simple 1126538 C . Benign/Likely benign 2 6 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -25.8 1.1666666666666667 Benign 1 -141826 Simple 587782038 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-18 -0.84 1.0 Uncertain significance 0 -141827 Simple 587782039 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-06-12 -0.51 2.5 Uncertain significance 0 -141828 Simple 34466743 A . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -1.5 0.6 Uncertain significance 0 -141829 Simple 587782040 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-14 -0.6 0.5 Uncertain significance 0 -141830 Simple 587782041 A . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-02-21 -0.8999999999999999 1.0 Uncertain significance 0 -141832 Simple 573900018 C . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -11.1 1.25 Benign/Likely benign 1 -141833 Simple 587782043 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.5 Uncertain significance 0 -141834 Simple 587782044 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -1.2 0.75 Uncertain significance 0 -141835 Simple 587782045 G . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -1.17 1.0 Uncertain significance 0 -141836 Simple 587782046 - . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.5 Uncertain significance 0 -141837 Simple 559910904 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -141838 Simple 587782047 A . Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-05-02 8.7 0.6666666666666666 Pathogenic/Likely pathogenic 1 -141839 Simple 587782048 - . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-13 -0.5700000000000001 1.5 Uncertain significance 0 -141840 Simple 587782049 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-07-20 -0.51 2.5 Uncertain significance 0 -141842 Simple 587782051 A . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-10-17 -0.6 0.0 Uncertain significance 0 -141844 Simple 149055633 T . Uncertain significance 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -0.87 1.0 Uncertain significance 0 -141845 Simple 267608150 . . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-11-20 10.8 2.0 Pathogenic/Likely pathogenic 1 -141850 Simple 587782057 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-07-24 -0.44999999999999996 3.5 Uncertain significance 0 -141851 Simple 587782058 G . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141853 Simple 587782060 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-19 -0.78 2.3333333333333335 Uncertain significance 0 -141855 Simple 2230852 T . Benign/Likely benign 2 5 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -21.6 1.6 Benign/Likely benign 0 -141856 Simple 17882942 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.2 0.25 Uncertain significance 0 -141858 Simple 369299948 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141860 Simple 587782064 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-12-19 -0.48 3.0 Uncertain significance 0 -141861 Simple 587782065 - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-19 12.0 0.0 Pathogenic/Likely pathogenic 1 -141864 Simple 587782068 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-24 -0.6 1.0 Uncertain significance 0 -141865 Simple 587782069 A . Pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-02-27 23.4 1.25 Pathogenic 0 -141866 Simple 587782070 T . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-31 18.0 0.0 Pathogenic 0 -141868 Simple 587782071 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-01 -0.5700000000000001 1.5 Uncertain significance 0 -141869 Simple 587782072 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -0.87 1.0 Uncertain significance 0 -141871 Simple 587782074 A . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-30 11.1 1.6666666666666667 Pathogenic/Likely pathogenic 0 -141872 Simple 587782075 TATA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -141873 Simple 377153250 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.0 Uncertain significance 0 -141874 Simple 41294986 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -1.2 0.75 Uncertain significance 0 -141875 Simple 587782076 A . Uncertain significance 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not provided;Hereditary cancer-predisposing syndrome 2017-06-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141876 Simple 587782077 - . Pathogenic 2 2 Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -141878 Simple 587782079 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -0.51 2.5 Uncertain significance 0 -141880 Simple 587782081 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-05-26 18.0 0.6666666666666666 Pathogenic 0 -141883 Simple 371462564 G . Uncertain significance 2 3 Gastrointestinal stromal tumor;Paragangliomas 3;not specified;Hereditary cancer-predisposing syndrome 2017-05-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141884 Simple 2229021 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141885 Simple 587782084 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-01 -0.8999999999999999 1.0 Uncertain significance 0 -141886 Simple 375431906 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-03 -1.2 0.5 Uncertain significance 0 -141887 Simple 587782085 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-08-04 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -141888 Simple 61753718 T . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-03-27 -1.2 0.75 Uncertain significance 0 -141890 Simple 368990417 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -141891 Simple 587782087 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141892 Simple 587782088 T . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-28 10.2 2.0 Pathogenic/Likely pathogenic 1 -141893 Simple 17882252 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-01 -0.51 2.5 Uncertain significance 0 -141895 Simple 146315101 G . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -8.7 0.6666666666666666 Benign/Likely benign 1 -141897 Simple 587782091 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.84 1.3333333333333333 Uncertain significance 0 -141901 Simple 587782095 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -141906 Simple 587782100 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-02-10 -0.51 2.5 Uncertain significance 0 -141912 Simple 150030986 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.0 Uncertain significance 0 -141913 Simple 587782106 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -0.54 2.0 Uncertain significance 0 -141920 Simple 587782113 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141921 Simple 587782114 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-03 12.0 0.0 Pathogenic/Likely pathogenic 1 -141922 Simple 587782115 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-05 -1.2 1.0 Uncertain significance 0 -141924 Simple 587782117 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -141925 Simple 375597447 C . Uncertain significance 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.74 1.0 Uncertain significance 0 -141928 Simple 371085910 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;Colorectal adenoma 2017-10-16 -1.2 0.0 Uncertain significance 0 -141929 Simple 376256852 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -1.2 0.5 Uncertain significance 0 -141932 Simple 199836342 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.2 0.25 Uncertain significance 0 -141933 Simple 587782120 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -1.2 0.75 Uncertain significance 0 -141934 Simple 587782121 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -0.78 2.0 Uncertain significance 0 -141935 Simple 587782122 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141936 Simple 45566737 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.44 1.2 Uncertain significance 0 -141939 Simple 587782124 G . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 19.8 1.25 Pathogenic 1 -141940 Simple 587782125 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141941 Simple 587782126 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141942 Simple 369012159 A . Uncertain significance 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.5 0.4 Uncertain significance 0 -141943 Simple 587782127 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -1.2 0.25 Uncertain significance 0 -141944 Simple 587782128 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.2 0.5 Uncertain significance 0 -141946 Simple 587782130 A . Pathogenic 2 4 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-07-13 23.4 1.0 Pathogenic 0 -141947 Simple 587782131 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -141949 Simple 587782133 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-18 -0.51 2.5 Uncertain significance 0 -141950 Simple 587782134 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-03-27 -0.44999999999999996 3.5 Uncertain significance 0 -141954 Simple 587782138 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-08-14 -0.5700000000000001 1.0 Uncertain significance 0 -141958 Simple 587782141 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141960 Simple 587782143 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -141962 Simple 371264852 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -1.2 0.25 Uncertain significance 0 -141963 Simple 587782144 T . Pathogenic/Likely pathogenic 2 5 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-31 22.2 1.0 Pathogenic 1 -141968 Simple 587782149 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -1.17 0.75 Uncertain significance 0 -141969 Simple 376855484 A . Uncertain significance 2 6 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -141970 Simple 138833473 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-04-13 -0.6 1.0 Uncertain significance 0 -141972 Simple 587782151 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -1.2 0.25 Uncertain significance 0 -141974 Simple 201657283 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.2 0.5 Uncertain significance 0 -141975 Simple 200062099 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.2 0.0 Uncertain significance 0 -141976 Simple 587782153 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -1.2 0.5 Uncertain significance 0 -141977 Simple 146198085 G . Uncertain significance 2 6 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -141979 Simple 587782155 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-15 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141980 Simple 373454700 A . Uncertain significance 2 4 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-21 -1.14 1.0 Uncertain significance 0 -141981 Simple 587782156 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.0 Uncertain significance 0 -141982 Simple 149739570 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-21 -0.5700000000000001 1.0 Uncertain significance 0 -141985 Simple 587782157 - . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.84 1.0 Uncertain significance 0 -141986 Simple 587782158 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-29 -0.6 1.0 Uncertain significance 0 -141987 Simple 587782159 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-09-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141989 Simple 587782161 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -141990 Simple 587782162 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -141991 Simple 199973552 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -1.2 0.25 Uncertain significance 0 -141992 Simple 587782163 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -141993 Simple 587782164 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.47 0.6 Uncertain significance 0 -141995 Simple 587782166 A . Uncertain significance 2 3 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-03-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -141997 Simple 587782168 C . Uncertain significance 2 5 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Hereditary cancer-predisposing syndrome 2016-06-14 -1.44 1.4 Uncertain significance 0 -141999 Simple 587782170 - . Pathogenic 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-04-28 12.0 0.5 Pathogenic/Likely pathogenic 1 -142002 Simple 145758886 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-01-26 -0.87 1.3333333333333333 Uncertain significance 0 -142003 Simple 35993958 G . Benign/Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -14.4 0.5 Benign/Likely benign 0 -142005 Simple 587782174 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-18 -0.51 2.5 Uncertain significance 0 -142007 Simple 56130510 - . Benign/Likely benign 2 4 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-28 -17.4 2.25 Benign/Likely benign 0 -142008 Simple 587782175 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-28 -0.87 1.0 Uncertain significance 0 -142013 Simple 587782178 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.78 2.0 Uncertain significance 0 -142014 Simple 587782179 G . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.2 0.25 Uncertain significance 0 -142023 Simple 587782185 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-05-07 -1.05 2.25 Uncertain significance 0 -142025 Simple 2070096 G . Benign/Likely benign 2 4 not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-06-14 -19.2 1.75 Benign/Likely benign 0 -142026 Simple 587782186 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -1.08 1.75 Uncertain significance 0 -142027 Simple 587782187 A . Pathogenic 2 3 PTEN hamartoma tumor syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-11-21 17.4 1.3333333333333333 Pathogenic 0 -142028 Simple 587782188 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-19 -0.75 2.6666666666666665 Uncertain significance 0 -142029 Simple 587782189 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-09-15 -1.2 0.5 Uncertain significance 0 -142030 Simple 543339423 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-20 -0.6 1.0 Uncertain significance 0 -142031 Simple 587782190 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -1.2 0.5 Uncertain significance 0 -142035 Simple 146377793 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142036 Simple 587782191 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -0.87 0.6666666666666666 Uncertain significance 0 -142037 Simple 2066733 T . Benign/Likely benign 2 4 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -18.6 1.75 Benign/Likely benign 0 -142038 Simple 181655698 T . Benign/Likely benign 2 6 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-08-04 -25.8 1.1666666666666667 Benign 1 -142039 Simple 587782192 G . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-03 17.4 1.3333333333333333 Pathogenic 0 -142041 Simple 149991239 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.2 0.75 Uncertain significance 0 -142044 Simple 186926737 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-04 -1.5 0.4 Uncertain significance 0 -142045 Simple 554399982 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-01 -0.6 1.0 Uncertain significance 0 -142046 Simple 368111672 G . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -1.2 0.0 Uncertain significance 0 -142049 Simple 587782196 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-02-16 -1.17 1.25 Uncertain significance 0 -142051 Simple 587782198 - . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-01-25 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -142053 Simple 587782200 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-03 -0.6 0.5 Uncertain significance 0 -142055 Simple 587782202 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -0.5700000000000001 1.5 Uncertain significance 0 -142056 Simple 587782203 C . Uncertain significance 2 3 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Pheochromocytoma, susceptibility to;Hereditary cancer-predisposing syndrome 2016-07-09 -0.78 2.3333333333333335 Uncertain significance 0 -142057 Simple 587781558 T . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 15.0 0.3333333333333333 Pathogenic 1 -142059 Simple 199701987 A . Uncertain significance 2 4 Osteofibrous dysplasia;Renal cell carcinoma, papillary, 1;not specified;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Deafness, autosomal recessive 97 2017-07-24 -1.2 0.25 Uncertain significance 0 -142060 Simple 587782205 C . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.0 Uncertain significance 0 -142061 Simple 587782206 - . Pathogenic 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-11-02 11.4 1.5 Pathogenic/Likely pathogenic 1 -142065 Simple 367683141 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -142066 Simple 587782208 T . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-23 -1.2 0.5 Uncertain significance 0 -142070 Simple 587782211 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142073 Simple 374769365 C . Uncertain significance 2 6 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -1.65 1.5 Uncertain significance 0 -142075 Simple 587782215 T . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-06-15 -0.6 0.0 Uncertain significance 0 -142079 Simple 587782217 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -1.17 1.0 Uncertain significance 0 -142080 Simple 587782218 C . Benign/Likely benign 2 4 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -14.7 0.5 Benign/Likely benign 0 -142082 Simple 200472836 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-03 -0.6 0.5 Uncertain significance 0 -142084 Simple 587782220 T . Uncertain significance 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.87 0.6666666666666666 Uncertain significance 0 -142085 Simple 587782221 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-02-15 -0.6 1.0 Uncertain significance 0 -142086 Simple 587782222 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142088 Simple 587782224 A . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-24 -0.8099999999999999 2.0 Uncertain significance 0 -142090 Simple 587782226 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -142092 Simple 587782228 T . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -0.84 1.3333333333333333 Uncertain significance 0 -142093 Simple 370212314 C . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.2 0.0 Uncertain significance 0 -142094 Simple 202104448 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -9.0 0.3333333333333333 Benign/Likely benign 1 -142095 Simple 276174916 AA . Pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-18 23.4 1.0 Pathogenic 0 -142096 Simple 587782229 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.2 0.25 Uncertain significance 0 -142098 Simple 587782231 T . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-04-07 -0.51 2.5 Uncertain significance 0 -142104 Simple 587782236 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-13 -0.6 1.0 Uncertain significance 0 -142107 Simple 587782239 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142108 Simple 587782240 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-12-13 -0.48 3.0 Uncertain significance 0 -142109 Simple 587782241 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-21 -0.87 1.3333333333333333 Uncertain significance 0 -142112 Simple 56245590 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-03-11 -0.48 3.0 Uncertain significance 0 -142113 Simple 587782244 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.0 Uncertain significance 0 -142114 Simple 587782245 - . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-21 29.4 0.6666666666666666 Pathogenic 1 -142117 Simple 587782246 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-10-17 -1.5 0.6 Uncertain significance 0 -142119 Simple 587782248 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-28 -0.81 1.6666666666666667 Uncertain significance 0 -142122 Simple 587782251 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -142123 Simple 587782252 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -1.5 0.4 Uncertain significance 0 -142125 Simple 140285068 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142127 Simple 587782254 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -0.8999999999999999 1.0 Uncertain significance 0 -142128 Simple 587782255 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142129 Simple 587782256 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142130 Simple 587782257 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.84 1.3333333333333333 Uncertain significance 0 -142133 Simple 587782260 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-17 -0.54 2.0 Uncertain significance 0 -142135 Simple 2228456 G . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-08-20 -30.6 1.5 Benign 1 -142136 Simple 587782261 G . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-05-01 -0.48 3.0 Uncertain significance 0 -142139 Simple 1805129 C . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer 2017-08-21 -27.6 1.5 Benign 1 -142140 Simple 1800727 G . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -19.2 1.5 Benign/Likely benign 0 -142141 Simple 3218678 G . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-01 -9.0 3.5 Benign/Likely benign 1 -142144 Simple 121913344 A . Pathogenic/Likely pathogenic 2 4 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome;Colorectal Neoplasms;Head and Neck Neoplasms 2017-09-18 24.0 0.25 Pathogenic 1 -142145 Simple 33964119 T . Benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -28.2 1.4 Benign 0 -142147 Simple 201958469 T . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -1.47 0.4 Uncertain significance 0 -142148 Simple 587782267 A . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-01-16 -0.6 1.0 Uncertain significance 0 -142151 Simple 587782268 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-24 -1.2 0.0 Uncertain significance 0 -142152 Simple 587782269 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-04-16 -0.5700000000000001 1.5 Uncertain significance 0 -142153 Simple 186333183 A . Uncertain significance 2 4 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-07-26 -1.2 0.5 Uncertain significance 0 -142154 Simple 56401264 C . Benign/Likely benign 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2016-06-09 -18.9 1.8 Benign/Likely benign 0 -142158 Simple 587782270 - . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.2 0.0 Uncertain significance 0 -142159 Simple 4796033 T . Benign/Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2016-06-18 -18.6 2.0 Benign/Likely benign 0 -142162 Simple 139893395 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142163 Simple 587782273 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-03 -1.14 1.0 Uncertain significance 0 -142164 Simple 587782274 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -0.78 2.0 Uncertain significance 0 -142165 Simple 139569694 G . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142167 Simple 587782276 G . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 9.0 0.5 Pathogenic/Likely pathogenic 0 -142168 Simple 587782277 AA . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-05-10 15.6 2.0 Pathogenic 0 -142170 Simple 587782279 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -1.2 0.5 Uncertain significance 0 -142173 Simple 587782282 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-30 -0.6 0.0 Uncertain significance 0 -142178 Simple 533184563 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -1.2 0.25 Uncertain significance 0 -142179 Simple 141055990 C . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -1.5 0.4 Uncertain significance 0 -142181 Simple 200938360 C . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -1.44 0.8 Uncertain significance 0 -142184 Simple 369561166 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142187 Simple 587782292 T . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-03 25.2 1.4 Pathogenic 1 -142188 Simple 373226793 G . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-05 8.4 1.5 Pathogenic/Likely pathogenic 0 -142193 Simple 587782297 T . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -1.2 0.25 Uncertain significance 0 -142194 Simple 587782298 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.2 0.5 Uncertain significance 0 -142196 Simple 587782300 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.2 0.0 Uncertain significance 0 -142198 Simple 587782302 A . Uncertain significance 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.5 0.4 Uncertain significance 0 -142199 Simple 587782303 - . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2016-03-28 15.0 2.6666666666666665 Pathogenic 0 -142203 Simple 200287925 A . Pathogenic/Likely pathogenic 2 5 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-10-30 27.0 0.6 Pathogenic 1 -142205 Simple 587782307 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-10-18 -0.6 0.0 Uncertain significance 0 -142206 Simple 587781371 A . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -1.17 1.25 Uncertain significance 0 -142209 Simple 199708878 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-08 -1.5 0.2 Uncertain significance 0 -142211 Simple 587782310 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -1.2 0.5 Uncertain significance 0 -142212 Simple 375709098 T . Uncertain significance 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.08 1.5 Uncertain significance 0 -142213 Simple 587782311 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.0 Uncertain significance 0 -142214 Simple 587782312 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-06 -0.78 2.0 Uncertain significance 0 -142216 Simple 145629242 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -0.8999999999999999 0.0 Uncertain significance 0 -142217 Simple 587782314 C . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-08-10 -0.6 0.0 Uncertain significance 0 -142218 Simple 587782315 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142222 Simple 201206424 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.2 0.25 Uncertain significance 0 -142223 Simple 587782318 C . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-12 -0.51 2.0 Uncertain significance 0 -142224 Simple 140882609 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142225 Simple 138593305 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.8999999999999999 0.0 Uncertain significance 0 -142230 Simple 587782322 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-27 -0.51 2.0 Uncertain significance 0 -142231 Simple 587782323 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142233 Simple 587782325 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.5 Uncertain significance 0 -142238 Simple 199600387 A . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -19.8 1.0 Benign/Likely benign 0 -142240 Simple 375408871 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -1.17 1.0 Uncertain significance 0 -142242 Simple 587782330 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-09 -0.87 1.0 Uncertain significance 0 -142243 Simple 568451087 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-05 -6.0 1.0 Likely benign 0 -142246 Simple 373440614 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -1.2 0.0 Uncertain significance 0 -142249 Simple 141534716 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -1.2 0.0 Uncertain significance 0 -142250 Simple 587782335 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -0.8999999999999999 0.0 Uncertain significance 0 -142253 Simple 80338965 - . Pathogenic 2 3 Juvenile polyposis syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-16 18.0 0.3333333333333333 Pathogenic 0 -142254 Simple 199543313 A . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -13.5 1.25 Benign/Likely benign 0 -142255 Simple 587782339 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-14 -0.6 0.0 Uncertain significance 0 -142258 Simple 28897685 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-08-16 -0.54 2.0 Uncertain significance 0 -142259 Simple 587782341 AA . Pathogenic 2 3 PTEN hamartoma tumor syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-27 17.4 0.6666666666666666 Pathogenic 0 -142260 Simple 587782342 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-20 -0.6 0.5 Uncertain significance 0 -142261 Simple 587782343 A . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.78 2.0 Uncertain significance 0 -142263 Simple 587782345 G . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-09-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142264 Simple 587782346 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-30 -1.2 0.5 Uncertain significance 0 -142265 Simple 372924978 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-10-19 -0.6 0.0 Uncertain significance 0 -142266 Simple 587782347 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.2 0.75 Uncertain significance 0 -142267 Simple 587782348 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-25 -0.6 0.0 Uncertain significance 0 -142268 Simple 587782349 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-20 -0.51 2.0 Uncertain significance 0 -142269 Simple 587782350 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-11-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -142270 Simple 372103816 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142271 Simple 587782351 C . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-01-16 -0.8999999999999999 1.0 Uncertain significance 0 -142273 Simple 573154688 T . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.2 0.25 Uncertain significance 0 -142275 Simple 138796822 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.0 Uncertain significance 0 -142276 Simple 143009528 G . Uncertain significance 2 6 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-24 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -142277 Simple 587782354 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-05 -1.17 0.5 Uncertain significance 0 -142280 Simple 587782356 G . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -142283 Simple 374078532 A . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -0.87 1.0 Uncertain significance 0 -142285 Simple 587782359 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -0.8999999999999999 0.0 Uncertain significance 0 -142287 Simple 587782360 G . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-09 7.8 1.5 Likely pathogenic 1 -142288 Simple 587782361 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -142289 Simple 535449626 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -142290 Simple 587782362 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-04-23 -0.44999999999999996 3.5 Uncertain significance 0 -142297 Simple 199916228 T . Benign/Likely benign 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -19.5 1.6 Benign/Likely benign 0 -142301 Simple 145466894 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-06 -0.87 1.0 Uncertain significance 0 -142304 Simple 587782371 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-04 -5.1 2.5 Likely benign 0 -142305 Simple 554012110 G . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -1.5 0.2 Uncertain significance 0 -142306 Simple 587782372 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142307 Simple 146351301 A . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-04-17 -1.44 1.2 Uncertain significance 0 -142309 Simple 397507663 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -142310 Simple 200875161 G . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -15.0 0.5 Benign/Likely benign 0 -142316 Simple 587782378 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -142317 Simple 587782379 T . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -0.87 0.6666666666666666 Uncertain significance 0 -142320 Simple 397514495 T . Pathogenic/Likely pathogenic 2 5 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-06 18.0 0.2 Pathogenic 1 -142325 Simple 587782384 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.0 Uncertain significance 0 -142328 Simple 587782387 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.2 0.25 Uncertain significance 0 -142332 Simple 587782391 C . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-10-17 -0.6 0.0 Uncertain significance 0 -142333 Simple 375630981 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -0.6 0.5 Uncertain significance 0 -142334 Simple 587782392 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -142335 Simple 373122667 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -142336 Simple 201140528 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.0 Uncertain significance 0 -142339 Simple 199883473 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142340 Simple 587782395 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-08 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -142341 Simple 587782396 C . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-16 -1.5 0.4 Uncertain significance 0 -142342 Simple 200451612 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -1.5 0.2 Uncertain significance 0 -142343 Simple 574552037 C . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-10 24.0 0.5 Pathogenic 0 -142344 Simple 141293060 G . Uncertain significance 2 3 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142345 Simple 587782397 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.0 Uncertain significance 0 -142346 Simple 142806416 C . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -142348 Simple 200381392 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -142351 Simple 587782400 T . Pathogenic 2 4 Juvenile polyposis syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-07 24.0 0.75 Pathogenic 0 -142352 Simple 587782401 T . Likely pathogenic 2 5 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;not provided;Hereditary cancer-predisposing syndrome 2017-07-09 15.0 0.2 Pathogenic 2 -142353 Simple 587782402 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-14 -0.5700000000000001 1.5 Uncertain significance 0 -142354 Simple 376170600 G . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-03 16.8 1.6666666666666667 Pathogenic 0 -142355 Simple 587782403 C . Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-13 15.0 0.4 Pathogenic 2 -142357 Simple 368690400 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -1.2 0.75 Uncertain significance 0 -142358 Simple 587782405 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.5 Uncertain significance 0 -142359 Simple 368209025 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -1.2 0.25 Uncertain significance 0 -142360 Simple 587782406 T . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-03 -1.17 1.25 Uncertain significance 0 -142361 Simple 138040612 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -1.5 0.6 Uncertain significance 0 -142363 Simple 370345996 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.2 0.25 Uncertain significance 0 -142365 Simple 587782409 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -0.5700000000000001 1.0 Uncertain significance 0 -142366 Simple 587782410 C . Pathogenic 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2017-07-26 30.0 0.4 Pathogenic 0 -142367 Simple 587782411 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-04-10 -0.78 2.0 Uncertain significance 0 -142368 Simple 149501505 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-26 -0.51 2.5 Uncertain significance 0 -142371 Simple 587782413 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-08 -0.6 1.0 Uncertain significance 0 -142375 Simple 563752762 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-07 -0.6 0.5 Uncertain significance 0 -142376 Simple 587782416 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -1.2 0.75 Uncertain significance 0 -142377 Simple 373167735 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -1.2 0.25 Uncertain significance 0 -142380 Simple 587782419 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-20 -0.54 2.0 Uncertain significance 0 -142383 Simple 587782420 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -142385 Simple 587782422 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-05 -0.51 2.5 Uncertain significance 0 -142390 Simple 587782427 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-10-08 -0.51 2.5 Uncertain significance 0 -142391 Simple 587782428 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -4.17 0.5 Uncertain significance 2 -142395 Simple 587782432 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142400 Simple 587782436 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-06 -0.87 1.3333333333333333 Uncertain significance 0 -142401 Simple 587782437 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -1.2 0.25 Uncertain significance 0 -142403 Simple 180177110 A . Pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-30 28.8 0.6 Pathogenic 0 -142404 Simple 587782439 - . Uncertain significance 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.5 0.6 Uncertain significance 0 -142405 Simple 587782440 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-10-06 -0.6 0.0 Uncertain significance 0 -142406 Simple 587782441 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -0.8999999999999999 1.0 Uncertain significance 0 -142407 Simple 587782442 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-14 -0.51 2.5 Uncertain significance 0 -142408 Simple 587782443 - . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;Tumor susceptibility linked to germline BAP1 mutations;not provided;Hereditary cancer-predisposing syndrome 2017-05-25 32.1 1.1666666666666667 Pathogenic 1 -142410 Simple 587782445 T . Benign/Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -17.1 1.4 Benign/Likely benign 0 -142412 Simple 587782446 A . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -142413 Simple 398123230 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-01 -0.51 2.0 Uncertain significance 0 -142415 Simple 587782448 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-29 -0.8999999999999999 0.0 Uncertain significance 0 -142416 Simple 587782449 T . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -1.17 1.0 Uncertain significance 0 -142417 Simple 587782450 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-08 -0.5700000000000001 1.5 Uncertain significance 0 -142418 Simple 587782451 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142423 Simple 587782455 T . Pathogenic 2 2 Cowden syndrome 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-27 10.2 2.0 Pathogenic/Likely pathogenic 1 -142424 Simple 587782456 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -0.75 2.3333333333333335 Uncertain significance 0 -142425 Simple 144896235 C . Uncertain significance 2 3 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-05-23 -0.8999999999999999 0.0 Uncertain significance 0 -142427 Simple 587782457 C . Uncertain significance 2 3 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-10-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142429 Simple 587782459 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-12 -0.87 1.0 Uncertain significance 0 -142430 Simple 587782460 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.2 0.25 Uncertain significance 0 -142431 Simple 587782461 T . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.17 0.75 Uncertain significance 0 -142433 Simple 377597949 T . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.2 0.25 Uncertain significance 0 -142434 Simple 587782463 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-25 -0.54 1.5 Uncertain significance 0 -142435 Simple 587782464 T . Uncertain significance 2 6 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -1.7999999999999998 0.5 Uncertain significance 0 -142436 Simple 587782465 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -1.2 0.5 Uncertain significance 0 -142437 Simple 587782466 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-03 -1.2 0.5 Uncertain significance 0 -142438 Simple 61747588 T . Benign/Likely benign 2 4 Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -18.0 2.0 Benign/Likely benign 0 -142439 Simple 587782467 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-28 -0.51 2.0 Uncertain significance 0 -142440 Simple 144111588 T . Uncertain significance 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.71 0.8333333333333334 Uncertain significance 0 -142441 Simple 112241748 A . Benign/Likely benign 2 4 Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -18.0 2.0 Benign/Likely benign 0 -142443 Simple 587782468 T . Uncertain significance 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.47 0.6 Uncertain significance 0 -142444 Simple 587782469 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -11.1 1.0 Benign/Likely benign 1 -142446 Simple 587782470 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-10 -0.87 1.0 Uncertain significance 0 -142447 Simple 373611083 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -1.2 0.0 Uncertain significance 0 -142449 Simple 587782472 A . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-02-23 -0.51 2.5 Uncertain significance 0 -142451 Simple 572554455 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -142453 Simple 587782474 T . Uncertain significance 2 5 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.5 0.4 Uncertain significance 0 -142455 Simple 587782476 TGCTGCTGCTGC . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -1.17 1.0 Uncertain significance 0 -142456 Simple 150121935 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142459 Simple 587782477 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-09-20 -0.51 2.5 Uncertain significance 0 -142463 Simple 587782480 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.5 Uncertain significance 0 -142465 Simple 149194681 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-02-08 -1.17 1.25 Uncertain significance 0 -142466 Simple 374625279 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.14 1.0 Uncertain significance 0 -142467 Simple 587782482 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142468 Simple 587782483 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -1.2 0.5 Uncertain significance 0 -142469 Simple 587782484 G . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.5 0.2 Uncertain significance 0 -142472 Simple 368830730 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142473 Simple 4988349 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -0.8999999999999999 0.0 Uncertain significance 0 -142478 Simple 144070976 C . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.5 Uncertain significance 0 -142479 Simple 587782489 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142483 Simple 587782493 T . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142486 Simple 587782496 T . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142487 Simple 587782497 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -0.6 1.0 Uncertain significance 0 -142488 Simple 587782498 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-22 -0.51 2.0 Uncertain significance 0 -142490 Simple 369058374 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-15 -0.6 0.0 Uncertain significance 0 -142492 Simple 61757643 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-07 -0.6 0.5 Uncertain significance 0 -142493 Simple 374550615 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-11 -0.6 0.5 Uncertain significance 0 -142494 Simple 587782501 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-11 -0.6 0.5 Uncertain significance 0 -142495 Simple 143520357 T . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -1.5 0.6 Uncertain significance 0 -142496 Simple 143643688 G . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -1.2 0.5 Uncertain significance 0 -142498 Simple 587782503 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-18 -0.6 0.0 Uncertain significance 0 -142499 Simple 587782504 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-16 13.5 2.0 Pathogenic/Likely pathogenic 0 -142502 Simple 587782507 C . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142504 Simple 142132127 C . Uncertain significance 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -142505 Simple 369560280 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-14 -0.6 0.5 Uncertain significance 0 -142506 Simple 587782508 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-19 -0.6 0.0 Uncertain significance 0 -142508 Simple 587782510 A . Uncertain significance 2 6 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -142511 Simple 145415033 G . Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-03-16 -6.0 0.5 Likely benign 0 -142513 Simple 587782513 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-08 -0.51 2.5 Uncertain significance 0 -142516 Simple 4987188 T . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-17 -1.5 0.2 Uncertain significance 0 -142520 Simple 587782519 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -1.74 1.0 Uncertain significance 0 -142522 Simple 145053092 G . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -1.5 0.2 Uncertain significance 0 -142523 Simple 371730091 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.5 Uncertain significance 0 -142525 Simple 142949377 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-03 -1.1099999999999999 1.25 Uncertain significance 0 -142527 Simple 587782522 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -0.8999999999999999 0.0 Uncertain significance 0 -142528 Simple 587782523 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-11 -0.6 0.5 Uncertain significance 0 -142529 Simple 45572934 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-09-03 -0.44999999999999996 3.5 Uncertain significance 0 -142533 Simple 587782527 A . Uncertain significance 2 6 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -142534 Simple 587782528 T . Pathogenic 2 6 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-06-23 36.0 0.5 Pathogenic 0 -142535 Simple 148064985 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.2 0.25 Uncertain significance 0 -142536 Simple 587782529 A . Pathogenic 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-09-29 12.0 0.5 Pathogenic/Likely pathogenic 1 -142537 Simple 371102112 A . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142539 Simple 587782530 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -0.6 0.5 Uncertain significance 0 -142540 Simple 587782531 TA . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-06-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -142541 Simple 201314561 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -1.2 0.0 Uncertain significance 0 -142542 Simple 373522639 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142545 Simple 587782534 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-08 -0.6 0.5 Uncertain significance 0 -142546 Simple 142498771 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.25 Uncertain significance 0 -142547 Simple 587782535 G . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -1.5 0.2 Uncertain significance 0 -142554 Simple 587782541 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -0.8999999999999999 0.0 Uncertain significance 0 -142557 Simple 188036046 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-04 -6.0 1.0 Likely benign 0 -142559 Simple 587782545 A . Pathogenic/Likely pathogenic 2 5 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 26.4 0.8 Pathogenic 1 -142562 Simple 121912661 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142563 Simple 587782547 ATTAATTA . Uncertain significance 2 7 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-30 -2.1 0.5714285714285714 Uncertain significance 0 -142564 Simple 587782548 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -0.87 1.0 Uncertain significance 0 -142569 Simple 587782553 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142572 Simple 547715146 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -142573 Simple 587782556 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2016-12-04 -0.78 2.3333333333333335 Uncertain significance 0 -142574 Simple 587782557 - . Pathogenic 2 6 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-06-16 34.2 1.3333333333333333 Pathogenic 0 -142575 Simple 587782558 - . Pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-03 28.8 1.0 Pathogenic 0 -142577 Simple 530993704 C . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -1.47 1.0 Uncertain significance 0 -142583 Simple 587782564 T . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142584 Simple 374660293 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -0.87 1.0 Uncertain significance 0 -142585 Simple 587782565 G . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.5 Uncertain significance 0 -142587 Simple 587782567 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142591 Simple 587782570 TT . Pathogenic 2 4 Familial cancer of breast;Tumor susceptibility linked to germline BAP1 mutations;not provided;Hereditary cancer-predisposing syndrome 2017-01-19 23.4 1.25 Pathogenic 0 -142594 Simple 587782573 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-04-07 -0.54 2.0 Uncertain significance 0 -142595 Simple 587782574 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-07-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -142596 Simple 587782575 C . Likely pathogenic 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-24 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -142597 Simple 587782576 - . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 -1.2 0.75 Uncertain significance 0 -142598 Simple 587782577 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -142600 Simple 587782579 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -0.87 1.0 Uncertain significance 0 -142601 Simple 142441643 T . Pathogenic/Likely pathogenic 2 5 Carney triad;Paragangliomas 5;not provided;Hereditary cancer-predisposing syndrome 2017-11-09 29.4 0.8 Pathogenic 1 -142603 Simple 273901752 - . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -142604 Simple 529008617 A . Pathogenic 2 7 MYH-associated polyposis;Carcinoma of colon;not provided;Hereditary cancer-predisposing syndrome 2017-06-22 39.6 1.2857142857142858 Pathogenic 0 -142607 Simple 587782583 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-11 -0.51 2.5 Uncertain significance 0 -142608 Simple 80358740 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.2 Pathogenic 0 -142610 Simple 367868307 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-16 -0.54 1.5 Uncertain significance 0 -142611 Simple 80356847 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.54 1.25 Benign/Likely benign 1 -142616 Simple 587782589 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-27 -0.54 1.5 Uncertain significance 0 -142617 Simple 587782590 A . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-10-02 7.800000000000001 2.5 Likely pathogenic 1 -142619 Simple 587782592 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-09 -0.54 1.5 Uncertain significance 0 -142620 Simple 587782593 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2018-01-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -142626 Simple 587782597 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-18 -0.6 0.5 Uncertain significance 0 -142627 Simple 564757581 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-26 -0.54 2.0 Uncertain significance 0 -142628 Simple 80357196 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.84 1.3333333333333333 Uncertain significance 0 -142629 Simple 587782598 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -142632 Simple 2229044 T . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -25.2 1.4 Benign 1 -142633 Simple 35539711 G . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -19.2 1.5 Benign/Likely benign 0 -142635 Simple 587782602 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142637 Simple 587782604 T . Pathogenic 2 3 Paragangliomas 4;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 18.0 0.3333333333333333 Pathogenic 0 -142638 Simple 587782605 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -142639 Simple 587782606 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-09 -1.17 1.25 Uncertain significance 0 -142640 Simple 587782607 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-11 10.2 2.5 Pathogenic/Likely pathogenic 1 -142642 Simple 587782608 T . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -21.0 1.6666666666666667 Benign/Likely benign 1 -142646 Simple 587782611 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -142648 Simple 587782613 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -142650 Simple 141577476 A . Pathogenic 2 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-06 18.0 0.6666666666666666 Pathogenic 0 -142652 Simple 587782616 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-12 -0.51 2.5 Uncertain significance 0 -142655 Simple 80357189 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-18 -0.6 1.0 Uncertain significance 0 -142656 Simple 587782619 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.6 0.5 Uncertain significance 0 -142658 Simple 587782621 C . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -1.44 0.8 Uncertain significance 0 -142660 Simple 587782623 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-18 -0.87 1.0 Uncertain significance 0 -142663 Simple 587782625 G . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.17 1.0 Uncertain significance 0 -142666 Simple 587782628 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -142671 Simple 587782633 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-28 -1.2 0.75 Uncertain significance 0 -142672 Simple 148445930 C . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-03 -1.5 0.4 Uncertain significance 0 -142674 Simple 587782635 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-19 -0.54 2.0 Uncertain significance 0 -142675 Simple 377216828 T . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-07 -1.17 0.75 Uncertain significance 0 -142676 Simple 587782636 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-14 -0.5700000000000001 1.0 Uncertain significance 0 -142679 Simple 587782639 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-30 -5.4 1.5 Likely benign 0 -142680 Simple 587782640 A . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-09 -1.5 0.4 Uncertain significance 0 -142681 Simple 587782641 AAAAAA . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-16 -0.48 3.0 Uncertain significance 0 -142682 Simple 145453814 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.2 0.25 Uncertain significance 0 -142685 Simple 587782643 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-09-30 -0.54 2.0 Uncertain significance 0 -142687 Simple 587782645 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -0.51 2.0 Uncertain significance 0 -142688 Simple 371673459 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-10 -0.8999999999999999 0.0 Uncertain significance 0 -142696 Simple 567896256 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.2 0.5 Uncertain significance 0 -142698 Simple 587782651 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142700 Simple 587782652 C . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-29 17.4 0.8 Pathogenic 1 -142703 Simple 587782655 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 -0.54 1.5 Uncertain significance 0 -142706 Simple 587782658 C . Uncertain significance 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-21 -1.08 1.75 Uncertain significance 0 -142707 Simple 371817372 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-09-04 -0.5700000000000001 1.5 Uncertain significance 0 -142708 Simple 587782659 C . Likely pathogenic 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 7.8 2.0 Likely pathogenic 0 -142709 Simple 587782660 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -142711 Simple 587782662 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142713 Simple 368466538 G . Uncertain significance 2 5 Peutz-Jeghers syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-24 -1.5 0.8 Uncertain significance 0 -142715 Simple 587782665 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-03 -0.8999999999999999 1.0 Uncertain significance 0 -142716 Simple 587782666 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -142717 Simple 587782667 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -142718 Simple 587782668 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-25 -0.78 2.0 Uncertain significance 0 -142721 Simple 587782671 G . Uncertain significance 2 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-16 -1.17 0.75 Uncertain significance 0 -142722 Simple 587782672 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -142725 Simple 575031539 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-04 -0.54 2.0 Uncertain significance 0 -142726 Simple 146069748 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-30 -0.81 2.0 Uncertain significance 0 -142727 Simple 587782674 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-08-02 -0.6 1.0 Uncertain significance 0 -142728 Simple 587782675 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.5 Uncertain significance 0 -142729 Simple 587782676 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-06 -0.54 2.0 Uncertain significance 0 -142732 Simple 587782679 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-21 -0.5700000000000001 1.0 Uncertain significance 0 -142733 Simple 587782680 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-05 18.0 0.3333333333333333 Pathogenic 0 -142734 Simple 587782681 C . Pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-12 30.0 0.4 Pathogenic 0 -142735 Simple 587782682 T . Pathogenic 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-21 11.4 1.0 Pathogenic/Likely pathogenic 1 -142736 Simple 587782683 T . Uncertain significance 2 4 MYH-associated polyposis;Pilomatrixoma;Neoplasm of stomach;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.2 0.0 Uncertain significance 0 -142738 Simple 144714869 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.81 1.6666666666666667 Uncertain significance 0 -142739 Simple 143483210 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.0 Uncertain significance 0 -142741 Simple 371192107 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -142742 Simple 587782686 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-02 -0.5700000000000001 1.0 Uncertain significance 0 -142743 Simple 587782687 G . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -1.17 1.0 Uncertain significance 0 -142746 Simple 376641234 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.47 0.8 Uncertain significance 0 -142747 Simple 587782690 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-11 -0.54 1.5 Uncertain significance 0 -142749 Simple 587782692 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -0.6 0.5 Uncertain significance 0 -142751 Simple 587782693 T . Uncertain significance 2 4 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-09-27 -1.2 0.75 Uncertain significance 0 -142752 Simple 587782694 CT . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-04 -0.54 2.0 Uncertain significance 0 -142753 Simple 562367786 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-20 -0.5700000000000001 1.0 Uncertain significance 0 -142754 Simple 587782695 A . Pathogenic 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-06-08 18.0 0.3333333333333333 Pathogenic 0 -142756 Simple 587782697 - . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -142762 Simple 587782702 T . Likely pathogenic, risk factor 2 4 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 12.0 0.0 Pathogenic/Likely pathogenic 1 -142763 Simple 74315370 A . Pathogenic 2 3 Paragangliomas 4;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-07-19 18.0 0.0 Pathogenic 0 -142764 Simple 587782703 A . Pathogenic 2 4 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-01-12 22.2 1.75 Pathogenic 0 -142765 Simple 587782704 - . Pathogenic 2 4 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary cancer;Hereditary nonpolyposis colon cancer 2017-08-01 24.0 0.5 Pathogenic 0 -142766 Simple 587782705 A . Pathogenic 2 3 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 16.2 1.6666666666666667 Pathogenic 0 -142767 Simple 63751604 C . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 6.0 0.5 Likely pathogenic 0 -142768 Simple 587782706 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142769 Simple 2229571 G . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-10 -24.6 1.4 Benign 1 -142770 Simple 1801552 C . Benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -28.2 1.4 Benign 0 -142771 Simple 549269828 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -142773 Simple 587779264 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -0.87 0.6666666666666666 Uncertain significance 0 -142776 Simple 587782709 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -142777 Simple 587779333 A . Pathogenic 2 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-08 22.8 1.0 Pathogenic 0 -142778 Simple 587782710 - . Pathogenic 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-21 16.2 1.6666666666666667 Pathogenic 0 -142779 Simple 587782711 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-04 -0.54 2.0 Uncertain significance 0 -142780 Simple 373817937 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-05 -0.6 0.0 Uncertain significance 0 -142781 Simple 587782712 - . Pathogenic/Likely pathogenic 2 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-31 24.0 0.5 Pathogenic 1 -142782 Simple 587782713 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-23 -1.1099999999999999 1.75 Uncertain significance 0 -142783 Simple 587782714 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.87 1.0 Uncertain significance 0 -142787 Simple 587782717 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -142788 Simple 377416092 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -0.8999999999999999 0.0 Uncertain significance 0 -142791 Simple 587782719 A . Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-24 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -142792 Simple 587782720 G . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -1.5 0.6 Uncertain significance 0 -142795 Simple 587782723 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Prostate cancer;Prostate neoplasm 2016-08-16 -1.1400000000000001 1.5 Uncertain significance 0 -142800 Simple 587782726 - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-25 12.0 0.0 Pathogenic/Likely pathogenic 1 -142802 Simple 587782728 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142803 Simple 587782729 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-15 -0.87 1.0 Uncertain significance 0 -142804 Simple 368654378 G . Uncertain significance 2 4 Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -1.17 0.75 Uncertain significance 0 -142805 Simple 587782730 G . Likely pathogenic 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-07 5.4 1.5 Likely pathogenic 0 -142806 Simple 587782731 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-22 -0.6 1.0 Uncertain significance 0 -142807 Simple 587782732 A . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -1.08 1.75 Uncertain significance 0 -142809 Simple 587782734 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -0.54 1.5 Uncertain significance 0 -142810 Simple 587782735 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-29 -0.51 2.5 Uncertain significance 0 -142812 Simple 373766973 A . Uncertain significance 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -1.68 1.3333333333333333 Uncertain significance 0 -142814 Simple 587782738 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-12-25 -0.51 2.5 Uncertain significance 0 -142816 Simple 587782740 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-08 -0.6 0.5 Uncertain significance 0 -142817 Simple 587782741 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.14 0.75 Uncertain significance 0 -142818 Simple 587782742 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-30 -0.5700000000000001 1.0 Uncertain significance 0 -142829 Simple 587782751 T . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -1.5 0.4 Uncertain significance 0 -142831 Simple 567476314 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-11 -0.54 2.0 Uncertain significance 0 -142833 Simple 587782754 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.87 0.6666666666666666 Uncertain significance 0 -142836 Simple 80356997 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -142837 Simple 587782756 C . Uncertain significance 2 3 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142840 Simple 28363307 C . Uncertain significance 2 6 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -142843 Simple 587782760 C . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -0.87 1.0 Uncertain significance 0 -142844 Simple 587782761 G . Uncertain significance 2 3 Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2016-10-12 -0.81 2.0 Uncertain significance 0 -142847 Simple 587782763 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-22 -0.6 1.0 Uncertain significance 0 -142848 Simple 183478654 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-08-22 -0.87 1.3333333333333333 Uncertain significance 0 -142849 Simple 587782764 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -142850 Simple 587782765 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-10 -0.54 2.0 Uncertain significance 0 -142851 Simple 587782766 - . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-22 21.0 0.75 Pathogenic 1 -142854 Simple 587782769 C . Uncertain significance 2 4 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-27 -1.17 1.0 Uncertain significance 0 -142855 Simple 587782770 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.47 1.0 Uncertain significance 0 -142856 Simple 267607712 G . Pathogenic 2 4 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-27 24.0 0.5 Pathogenic 0 -142858 Simple 587782772 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-08 -0.5700000000000001 1.5 Uncertain significance 0 -142859 Simple 371480039 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-03-28 -0.6 0.5 Uncertain significance 0 -142860 Simple 587782773 T . Uncertain significance 2 4 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-14 -1.2 0.5 Uncertain significance 0 -142861 Simple 587782774 G . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-14 15.0 2.25 Pathogenic 1 -142862 Simple 587782775 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-07 -0.5700000000000001 1.5 Uncertain significance 0 -142863 Simple 587782776 T . Uncertain significance 2 2 Li-Fraumeni syndrome 1;Hereditary cancer-predisposing syndrome 2016-08-05 -0.6 1.0 Uncertain significance 0 -142865 Simple 587782778 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142866 Simple 587782779 G . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-07 -1.44 0.8 Uncertain significance 0 -142867 Simple 147519994 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-22 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -142868 Simple 587782780 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -142871 Simple 587782783 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-07-01 -0.6 1.0 Uncertain significance 0 -142872 Simple 587779085 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-15 -0.5700000000000001 1.5 Uncertain significance 0 -142873 Simple 587782784 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-21 -0.54 1.5 Uncertain significance 0 -142875 Simple 536111818 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-23 -1.2 0.0 Uncertain significance 0 -142876 Simple 587782786 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-04 -0.6 0.5 Uncertain significance 0 -142877 Simple 587782787 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-06 -0.5700000000000001 1.0 Uncertain significance 0 -142884 Simple 587782794 G . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.5 Uncertain significance 0 -142885 Simple 587782795 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -1.2 0.0 Uncertain significance 0 -142887 Simple 587782797 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-12-29 -0.5700000000000001 1.5 Uncertain significance 0 -142889 Simple 587782799 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -142890 Simple 587782800 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-14 -0.6 0.5 Uncertain significance 0 -142891 Simple 377208033 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -1.2 0.25 Uncertain significance 0 -142893 Simple 587782802 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -142898 Simple 587782806 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -142899 Simple 587782807 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-03-27 -0.54 1.5 Uncertain significance 0 -142904 Simple 541660851 A . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 3;Hereditary cancer-predisposing syndrome 2017-04-07 -0.54 1.5 Uncertain significance 0 -142907 Simple 587782414 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-27 -0.6 0.5 Uncertain significance 0 -142908 Simple 587782812 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-06 10.8 2.0 Pathogenic/Likely pathogenic 1 -142909 Simple 587782813 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142910 Simple 71579841 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.2 0.25 Uncertain significance 0 -142913 Simple 148061139 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142915 Simple 587782816 T . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-08-16 -1.5 0.6 Uncertain significance 0 -142916 Simple 72661119 C . Uncertain significance 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-10-16 -0.8999999999999999 0.0 Uncertain significance 0 -142917 Simple 587782817 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -142918 Simple 574039421 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -1.1099999999999999 1.25 Uncertain significance 0 -142919 Simple 587782818 G . Pathogenic 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-12-08 11.4 1.5 Pathogenic/Likely pathogenic 1 -142923 Simple 587782822 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.17 0.75 Uncertain significance 0 -142924 Simple 587782823 G . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-03-07 -0.84 1.3333333333333333 Uncertain significance 0 -142926 Simple 587782825 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142928 Simple 587782827 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-28 -0.54 1.5 Uncertain significance 0 -142929 Simple 587782828 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-20 -0.87 1.3333333333333333 Uncertain significance 0 -142931 Simple 539613324 A . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-11 -1.1099999999999999 1.75 Uncertain significance 0 -142934 Simple 372808845 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-21 -0.6 1.0 Uncertain significance 0 -142938 Simple 587782834 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -142939 Simple 587782835 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-21 -1.2 0.25 Uncertain significance 0 -142941 Simple 587782837 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.2 0.5 Uncertain significance 0 -142943 Simple 587782838 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -0.54 1.5 Uncertain significance 0 -142944 Simple 587782839 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142945 Simple 587782840 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -142946 Simple 200830026 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -1.17 1.0 Uncertain significance 0 -142949 Simple 375082407 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.14 1.25 Uncertain significance 0 -142955 Simple 587782848 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-07-31 -0.54 2.0 Uncertain significance 0 -142956 Simple 587782849 A . Uncertain significance 2 8 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer 2017-08-09 -2.4 0.625 Uncertain significance 0 -142958 Simple 587782851 TT . Uncertain significance 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.87 1.0 Uncertain significance 0 -142960 Simple 587782852 C . Uncertain significance 2 6 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-23 -1.77 0.3333333333333333 Uncertain significance 0 -142963 Simple 587782854 C . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.4 Pathogenic 0 -142965 Simple 369340666 G . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.2 0.5 Uncertain significance 0 -142966 Simple 374353016 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-03 -0.8999999999999999 0.0 Uncertain significance 0 -142968 Simple 587782856 T . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.47 0.8 Uncertain significance 0 -142969 Simple 587782857 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-14 -0.87 1.3333333333333333 Uncertain significance 0 -142970 Simple 587782858 - . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -1.2 0.25 Uncertain significance 0 -142980 Simple 150478207 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-15 -0.8999999999999999 0.0 Uncertain significance 0 -142983 Simple 587782868 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-05-03 -0.54 2.0 Uncertain significance 0 -142991 Simple 587782875 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-29 -0.6 0.5 Uncertain significance 0 -142993 Simple 587782876 T . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -0.87 1.0 Uncertain significance 0 -142996 Simple 587782879 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -142997 Simple 370026879 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-28 -0.6 0.5 Uncertain significance 0 -142998 Simple 587782880 T . Likely pathogenic 2 3 Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-24 8.1 1.6666666666666667 Likely pathogenic 0 -143003 Simple 587782885 A . Pathogenic/Likely pathogenic 2 3 MYH-associated polyposis;Carcinoma of colon;not provided;Hereditary cancer-predisposing syndrome 2017-05-09 15.6 2.0 Pathogenic 1 -143006 Simple 587782888 - . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.84 1.3333333333333333 Uncertain significance 0 -143007 Simple 537604099 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -143008 Simple 587782889 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-04 -0.54 1.5 Uncertain significance 0 -143010 Simple 587782891 G . Uncertain significance 2 4 Lynch syndrome I;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-22 -1.2 0.75 Uncertain significance 0 -143012 Simple 377595814 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -0.8999999999999999 0.0 Uncertain significance 0 -143013 Simple 587782893 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-04 -0.5700000000000001 1.0 Uncertain significance 0 -143014 Simple 587782894 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-02-18 -0.51 2.5 Uncertain significance 0 -143015 Simple 587782895 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-10-08 12.0 1.0 Pathogenic/Likely pathogenic 1 -143016 Simple 587782896 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.2 0.0 Uncertain significance 0 -143017 Simple 587782897 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-08 11.4 1.5 Pathogenic/Likely pathogenic 1 -143019 Simple 377149139 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.47 0.6 Uncertain significance 0 -143020 Simple 375709098 A . Uncertain significance 2 6 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not specified;not provided;Hereditary cancer-predisposing syndrome;Inborn genetic diseases 2017-07-24 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -143021 Simple 201047375 A . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -1.47 0.4 Uncertain significance 0 -143022 Simple 587782899 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-24 -0.6 1.0 Uncertain significance 0 -143023 Simple 587782900 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -143024 Simple 587782901 TT . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 27.0 0.8 Pathogenic 0 -143025 Simple 587782902 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-21 -0.5700000000000001 1.5 Uncertain significance 0 -143063 Simple 1131695 A . Benign/Likely benign 2 3 Arteriohepatic dysplasia;not specified;not provided;Cardiovascular phenotype;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -143075 Simple 76258939 G . Benign/Likely benign 2 6 not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -22.8 1.3333333333333333 Benign/Likely benign 0 -143157 Simple 36015759 A . Benign/Likely benign 2 2 Microphthalmia, isolated 6;Retinal degeneration;not specified;not provided;Retinal degeneration 2016-06-14 -6.0 1.0 Likely benign 1 -143224 Simple 587781260 G . Pathogenic 2 2 not provided;Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4);Autoinflammation with infantile enterocolitis 2015-05-11 10.2 2.5 Pathogenic/Likely pathogenic 1 -143245 Simple 140950220 C . Pathogenic 2 2 not provided;Steel syndrome 2016-06-07 10.8 2.0 Pathogenic/Likely pathogenic 1 -143298 Simple 144008995 T . Benign 2 3 not specified 2015-02-05 -12.6 4.0 Benign/Likely benign 1 -143321 Simple 61752371 G . Benign/Likely benign 2 3 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-07-19 -10.200000000000001 2.3333333333333335 Benign/Likely benign 0 -143331 Simple 61752381 - . Uncertain significance 2 2 Rett syndrome;not specified 2017-10-06 -0.5700000000000001 1.0 Uncertain significance 0 -143369 Simple 267608327 . . Pathogenic 2 7 Mental retardation, X-linked, syndromic 13;Rett syndrome;Autism, susceptibility to, X-linked 3;not provided 2017-03-09 37.2 2.0 Pathogenic 0 -143372 Simple 63749748 . . Pathogenic 2 3 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome 2016-05-15 15.0 2.6666666666666665 Pathogenic 0 -143393 Simple 61753000 A . Uncertain significance 2 2 Rett syndrome;not specified 2016-08-17 -0.54 2.0 Uncertain significance 0 -143412 Simple 61753008 - . Benign/Likely benign 2 3 Rett syndrome;not specified;not provided 2015-07-07 -8.700000000000001 3.6666666666666665 Benign/Likely benign 0 -143421 Simple 63094662 T . Benign/Likely benign 2 2 Rett syndrome;not specified 2016-08-23 -8.4 1.5 Benign/Likely benign 0 -143437 Simple 63586860 A . Benign/Likely benign 2 2 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified 2017-01-26 -9.0 1.0 Benign/Likely benign 0 -143440 Simple 61753964 A . Benign/Likely benign 2 2 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-02-24 -8.7 1.5 Benign/Likely benign 0 -143458 Simple 61753973 T . Benign/Likely benign 2 4 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;Autism, susceptibility to, X-linked 3;not specified;Attention deficit hyperactivity disorder 2016-12-15 -17.4 2.5 Benign/Likely benign 0 -143463 Simple 61751363 A . Benign 2 2 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-03-28 -9.6 2.5 Benign/Likely benign 1 -143496 Simple 61754435 A . Benign 2 3 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-03-13 -17.4 1.0 Benign/Likely benign 1 -143562 Simple 61748390 C . Pathogenic/Likely pathogenic 2 3 Rett syndrome;not provided 2016-09-02 12.3 2.6666666666666665 Pathogenic/Likely pathogenic 0 -143574 Simple 61748386 A . Uncertain significance 2 2 Severe neonatal-onset encephalopathy with microcephaly;not specified;not provided 2017-05-25 -0.51 2.0 Uncertain significance 0 -143609 Simple 267608492 C . Uncertain significance 2 2 Rett syndrome;not specified 2016-03-04 -0.54 2.0 Uncertain significance 0 -143626 Simple 61749712 A . Benign 2 2 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-06-05 -11.4 1.0 Benign/Likely benign 1 -143627 Simple 61749713 C . Benign 2 3 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-07-21 -15.0 2.3333333333333335 Benign/Likely benign 1 -143638 Simple 63485860 G . Uncertain significance 2 2 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;Autism, susceptibility to, X-linked 3;not specified 2017-02-15 -0.6 1.0 Uncertain significance 0 -143650 Simple 267608512 A . Benign/Likely benign 2 2 not specified 2016-06-10 -5.4 2.0 Likely benign 1 -143657 Simple 61749738 C . Benign 2 3 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-08-03 -15.6 2.0 Benign/Likely benign 1 -143659 Simple 61749739 A . Benign/Likely benign 2 3 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-05-26 -12.6 2.0 Benign/Likely benign 0 -143666 Simple 267608517 CC . Pathogenic 2 1 Rett syndrome 2015-07-14 . 2.0 . 0 -143673 Simple 267608520 CAC . Pathogenic 2 2 Rett syndrome;not provided 2015-07-17 9.0 3.5 Pathogenic/Likely pathogenic 1 -143681 Simple 61748424 A . Benign 2 2 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-07-20 -9.6 2.5 Benign/Likely benign 1 -143684 Simple 267608522 GGGG . Pathogenic 2 2 Rett syndrome;not provided 2016-11-30 9.6 3.0 Pathogenic/Likely pathogenic 1 -143686 Simple 63582063 A . Benign/Likely benign 2 2 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-01-18 -8.7 1.5 Benign/Likely benign 0 -143706 Simple 61750245 A . Benign 2 2 Severe neonatal-onset encephalopathy with microcephaly;Rett syndrome;not specified 2017-03-23 -11.4 1.0 Benign/Likely benign 1 -143711 Simple 61750253 C . Benign/Likely benign 2 2 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified 2016-09-15 -8.1 2.5 Likely benign 1 -143746 Simple 61751443 T . Pathogenic/Likely pathogenic 2 3 Rett syndrome;not provided 2016-07-22 12.3 2.6666666666666665 Pathogenic/Likely pathogenic 0 -143750 Simple 61751446 A . Benign/Likely benign 2 3 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-06-22 -15.0 0.3333333333333333 Benign/Likely benign 0 -143758 Simple 61751442 A . Benign 2 4 not specified 2015-04-03 -18.6 3.25 Benign/Likely benign 1 -143764 Simple 148744894 A . Benign/Likely benign 2 2 not specified;not provided 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -143775 Simple 61753977 T . Benign 2 2 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2016-08-06 -9.6 3.0 Benign/Likely benign 1 -143781 Simple 267608395 T . Pathogenic 2 3 Early infantile epileptic encephalopathy 2;Atypical Rett syndrome;not provided 2017-05-18 13.2 3.3333333333333335 Pathogenic/Likely pathogenic 1 -143809 Simple 61753251 - . Pathogenic 2 3 Early infantile epileptic encephalopathy 2;Atypical Rett syndrome;Angelman syndrome-like;not provided 2017-05-18 13.8 3.0 Pathogenic/Likely pathogenic 1 -143822 Simple 267608490 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 2;not provided 2017-03-03 9.6 3.0 Pathogenic/Likely pathogenic 1 -143823 Simple 267608493 T . Pathogenic/Likely pathogenic 2 2 Early infantile epileptic encephalopathy 2;Atypical Rett syndrome;Angelman syndrome-like;not provided 2017-05-16 11.4 1.0 Pathogenic/Likely pathogenic 0 -143827 Simple 267608501 T . Pathogenic/Likely pathogenic 2 3 Early infantile epileptic encephalopathy 2;not provided;Epileptic encephalopathy 2016-11-16 15.6 2.3333333333333335 Pathogenic 1 -143945 Simple 587777617 T . Pathogenic/Likely pathogenic 2 2 Loeys-Dietz syndrome 4;not provided;Loeys-Dietz syndrome 5 2016-12-13 6.0 1.0 Likely pathogenic 1 -143963 Simple 587776406 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-03-10 16.8 1.3333333333333333 Pathogenic 0 -143964 Simple 587776413 C . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-07-18 17.4 0.6666666666666666 Pathogenic 0 -143968 Simple 587776419 A . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-01-20 12.0 1.0 Pathogenic/Likely pathogenic 0 -143972 Simple 587776423 G . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-03 12.0 0.0 Pathogenic/Likely pathogenic 0 -143974 Simple 587776425 TT . Pathogenic 2 2 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2015-11-06 10.8 2.0 Pathogenic/Likely pathogenic 1 -143977 Simple 587776407 A . Pathogenic 2 2 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2016-10-11 12.0 1.0 Pathogenic/Likely pathogenic 1 -144003 Simple 587777627 C . Pathogenic/Likely pathogenic, risk factor 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-10-20 9.0 1.0 Pathogenic/Likely pathogenic 0 -155722 Simple 587776351 A . Pathogenic 3 2 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -155726 Simple 587777876 T . Pathogenic 2 2 X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X;not provided 2016-12-30 12.0 1.0 Pathogenic/Likely pathogenic 1 -155730 Simple 587777875 T . Pathogenic/Likely pathogenic 2 2 Charcot-Marie-Tooth disease, type 2A2A;not provided 2017-04-11 6.0 0.5 Likely pathogenic 1 -155735 Simple 149377346 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not provided;Charcot-Marie-Tooth, Type 2 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -155772 Simple 587777695 T . Pathogenic 2 2 Acromelic frontonasal dysostosis;not provided 2017-10-31 10.8 1.5 Pathogenic/Likely pathogenic 1 -155773 Simple 200854335 A . Uncertain significance 2 3 Cardiomyopathy;not specified;not provided 2016-11-28 -0.78 2.3333333333333335 Uncertain significance 0 -155792 Simple 587782945 T . Uncertain significance 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2016-06-14 -2.6399999999999997 1.2222222222222223 Uncertain significance 0 -155799 Simple 140322345 T . Likely benign 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2017-10-25 -6.0 0.0 Likely benign 0 -155808 Simple 587782958 T . Pathogenic/Likely pathogenic 2 5 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-04-19 24.3 2.0 Pathogenic 1 -155814 Simple 587782962 T . Likely pathogenic 3 5 Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2016-12-15 23.7 2.2 Pathogenic 2 -155818 Simple 587782965 T . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 10;Primary familial hypertrophic cardiomyopathy 2017-04-05 7.8 2.5 Likely pathogenic 1 -155819 Simple 587782966 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified;Disproportionate tall stature 2017-09-15 -0.5700000000000001 1.0 Uncertain significance 0 -155823 Simple 374491316 G . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 2017-04-10 -0.5700000000000001 1.0 Uncertain significance 0 -155831 Simple 201675951 A . Uncertain significance 2 2 Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified 2015-04-02 -0.48 3.0 Uncertain significance 0 -155846 Simple 587782985 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Primary familial hypertrophic cardiomyopathy;not specified 2017-05-31 -0.54 1.5 Uncertain significance 0 -156057 Simple 185036026 C . Benign 2 1 Rett syndrome;not specified;not provided 2015-02-05 . 3.0 . 0 -156106 Simple 587777721 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 13;not provided 2017-05-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -156141 Simple 139928148 C . Uncertain significance 2 2 Angelman syndrome;not specified 2015-03-10 -0.45 3.5 Uncertain significance 0 -156144 Simple 202161423 G . Uncertain significance 2 2 Angelman syndrome;not specified 2017-10-19 -0.54 1.5 Uncertain significance 0 -156152 Simple 587777732 T . Pathogenic 2 3 not provided;Hyperinsulinemia;Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Hyperinsulinism due to HNF4A deficiency 2017-04-27 16.8 1.3333333333333333 Pathogenic 0 -156163 Simple 587776459 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-15 -0.87 1.0 Uncertain significance 0 -156166 Simple 587776462 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.27 1.25 Benign/Likely benign 1 -156170 Simple 587776466 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -1.17 1.0 Uncertain significance 0 -156171 Simple 587776467 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -156172 Simple 587776468 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -156175 Simple 587776471 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -156176 Simple 587776472 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -156179 Simple 574271678 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -1.38 1.6 Uncertain significance 0 -156180 Simple 587776476 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-02 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -156182 Simple 587776478 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2014-09-18 -0.48 3.0 Uncertain significance 0 -156184 Simple 587776480 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -156185 Simple 587776481 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-08 -0.87 1.3333333333333333 Uncertain significance 0 -156186 Simple 587776482 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -156189 Simple 587776485 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -156191 Simple 587776487 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -156193 Simple 587776489 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2015-06-24 -0.51 2.5 Uncertain significance 0 -156194 Simple 80356827 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -156238 Simple 587777771 T . Pathogenic 2 4 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss;Dystonia 12;Alternating hemiplegia of childhood 2;not provided;Inborn genetic diseases 2017-05-24 21.6 1.75 Pathogenic 0 -156281 Simple 137853285 T . Pathogenic 2 3 Wilson disease;not provided 2017-06-01 16.2 1.3333333333333333 Pathogenic 0 -156284 Simple 137853283 T . Pathogenic 2 2 Wilson disease;not specified 2016-12-06 10.8 2.0 Pathogenic/Likely pathogenic 1 -156475 Simple 587783029 T . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -156480 Simple 587783034 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -1.2 0.75 Uncertain significance 0 -156482 Simple 587783035 G . Conflicting interpretations of pathogenicity 1 2 Familial adenomatous polyposis 1;not specified 2016-05-27 5.79 2.5 Likely pathogenic 2 -156483 Simple 587783036 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -1.2 0.5 Uncertain significance 0 -156496 Simple 587783047 T . Pathogenic 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-03-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -156499 Simple 587783050 A . Pathogenic/Likely pathogenic 2 4 Hereditary diffuse gastric cancer;not provided;Hereditary cancer-predisposing syndrome 2017-07-13 21.0 0.25 Pathogenic 1 -156507 Simple 587783056 - . Pathogenic 2 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -156508 Simple 151316420 A . Uncertain significance 2 3 MYH-associated polyposis;Carcinoma of colon;Hereditary cancer-predisposing syndrome 2017-04-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -156509 Simple 587783057 A . Pathogenic 2 5 MYH-associated polyposis;Carcinoma of colon;not provided;Hereditary cancer-predisposing syndrome 2017-06-09 29.4 1.0 Pathogenic 0 -156510 Simple 35629870 T . Uncertain significance 2 4 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-13 -1.2 0.5 Uncertain significance 0 -156620 Simple 587783097 A . Likely pathogenic 2 2 Angelman syndrome;not provided 2014-02-27 3.9000000000000004 4.5 Uncertain significance 2 -156631 Simple 111302745 T . Likely benign 2 3 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified 2016-06-30 -8.4 1.6666666666666667 Benign/Likely benign 1 -156632 Simple 61753000 C . Benign/Likely benign 2 2 Severe neonatal-onset encephalopathy with microcephaly;Rett syndrome;not specified 2017-05-25 -9.0 0.5 Benign/Likely benign 0 -156634 Simple 140258520 A . Uncertain significance 2 4 Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified 2017-04-04 -1.02 2.25 Uncertain significance 0 -156669 Simple 587783139 T . Uncertain significance 2 2 not specified 2016-05-17 -0.6 1.0 Uncertain significance 0 -156670 Simple 138211345 C . Uncertain significance 2 2 not specified 2014-05-27 -0.48 3.0 Uncertain significance 0 -156691 Simple 587783158 T . Pathogenic 2 2 Early infantile epileptic encephalopathy 2;not provided 2012-11-16 7.2 5.0 Likely pathogenic 2 -156695 Simple 587783162 C . Likely benign 2 2 not specified 2016-06-21 -5.1 2.5 Likely benign 0 -157513 Simple 606231259 - . Pathogenic 2 3 Orofaciodigital syndrome 6;Joubert syndrome 17;not provided 2017-10-09 16.2 1.6666666666666667 Pathogenic 0 -157515 Simple 375009168 A . Pathogenic/Likely pathogenic 2 2 Orofaciodigital syndrome 6;Joubert syndrome 17;not provided 2017-03-22 5.7 1.0 Likely pathogenic 1 -157532 Simple 142451273 C . Uncertain significance 2 5 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth disease;not specified;not provided;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2017-07-24 -1.5 0.8 Uncertain significance 0 -157603 Simple 376155665 G . Pathogenic 2 2 Diarrhea 5, with tufting enteropathy, congenital;Lynch syndrome 2016-10-10 11.4 1.5 Pathogenic/Likely pathogenic 1 -157681 Simple 60824529 A . Benign/Likely benign 2 3 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -157684 Simple 1799857 A . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-12 -24.0 0.75 Benign 1 -157685 Simple 75376282 C . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -11.1 1.75 Benign/Likely benign 0 -157686 Simple 1799858 T . Benign/Likely benign 2 5 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-12 -28.8 1.2 Benign 1 -157687 Simple 1048099 G . Benign/Likely benign 2 6 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-12 -30.6 1.8333333333333333 Benign 1 -157688 Simple 1799854 A . Benign/Likely benign 2 5 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-30 -28.8 1.2 Benign 1 -157689 Simple 1801261 A . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -11.1 1.75 Benign/Likely benign 0 -157691 Simple 1805036 A . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-12 -24.0 0.75 Benign 1 -157692 Simple 73423037 A . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -11.1 1.75 Benign/Likely benign 0 -157694 Simple 2106865 C . Benign/Likely benign 2 1 Persistent hyperinsulinemic hypoglycemia of infancy;not specified 2017-04-12 . 0.0 . 0 -157695 Simple 8192695 A . Benign/Likely benign 2 3 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -18.0 1.0 Benign/Likely benign 0 -157697 Simple 149861153 A . Benign 2 5 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -27.6 1.8 Benign 0 -157698 Simple 1799859 T . Benign/Likely benign 2 5 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-12 -28.8 1.2 Benign 1 -157699 Simple 757110 A . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-12 -24.0 0.75 Benign 1 -157702 Simple 116132921 T . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -11.1 1.75 Benign/Likely benign 0 -157705 Simple 8192690 T . Benign/Likely benign 2 6 Permanent neonatal diabetes mellitus;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -27.0 1.0 Benign 1 -157706 Simple 73419228 A . Benign/Likely benign 2 7 Permanent neonatal diabetes mellitus;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -20.1 1.4285714285714286 Benign/Likely benign 0 -157707 Simple 2301703 A . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-12 -24.0 0.75 Benign 1 -157710 Simple 115580413 G . Benign/Likely benign 2 3 Rhizomelic chondrodysplasia punctata;not specified 2016-08-26 -13.2 2.0 Benign/Likely benign 0 -157712 Simple 34744592 G . Benign/Likely benign 2 2 Rhizomelic chondrodysplasia punctata;not specified 2016-10-24 -9.0 1.0 Benign/Likely benign 0 -157713 Simple 73029113 C . Benign/Likely benign 2 2 Rhizomelic chondrodysplasia punctata;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -157717 Simple 114201291 G . Benign/Likely benign 2 3 Spastic paraplegia 47, autosomal recessive;not specified 2017-07-03 -14.1 1.6666666666666667 Benign/Likely benign 0 -157719 Simple 17031980 C . Benign/Likely benign 2 2 Spastic paraplegia 47, autosomal recessive;not specified 2017-07-20 -12.0 0.5 Benign/Likely benign 0 -157722 Simple 34751342 G . Benign/Likely benign 2 2 Spastic paraplegia 47, autosomal recessive;not specified 2017-08-10 -12.0 0.5 Benign/Likely benign 0 -157725 Simple 3789613 G . Benign/Likely benign 2 2 not specified 2016-01-22 -7.2 3.5 Likely benign 1 -157728 Simple 35143646 T . Benign 2 3 not specified;not provided 2015-07-25 -13.8 3.3333333333333335 Benign/Likely benign 1 -157729 Simple 61733256 C . Benign 2 3 Chondrodysplasia punctata 1, X-linked recessive;not specified 2017-07-28 -15.6 2.0 Benign/Likely benign 1 -157730 Simple 11222 A . Benign 2 2 not specified;not provided 2015-02-19 -8.4 4.0 Benign/Likely benign 1 -157731 Simple 11055 T . Benign 2 1 not specified 2013-02-08 . 5.0 . 0 -157734 Simple 34412194 T . Benign 2 3 not specified;not provided 2016-12-12 -15.0 2.6666666666666665 Benign/Likely benign 1 -157735 Simple 5982618 A . Benign 2 1 not specified 2013-02-08 . 5.0 . 0 -157736 Simple 17325750 T . Benign 2 1 not specified 2013-02-08 . 5.0 . 0 -157737 Simple 35718384 C . Benign 2 3 Chondrodysplasia punctata 1, X-linked recessive;not specified 2017-07-28 -15.6 2.0 Benign/Likely benign 1 -157754 Simple 587783197 - . Benign/Likely benign 2 4 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified 2017-07-19 -16.8 1.25 Benign/Likely benign 0 -157760 Simple 587783203 G . Uncertain significance 2 2 not specified;epileptic encephalopathy, early infanitle, 1 2016-12-22 -0.48 3.0 Uncertain significance 0 -157775 Simple 10754213 C . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2017-08-02 -16.8 1.3333333333333333 Benign/Likely benign 0 -157777 Simple 587783215 A . Pathogenic/Likely pathogenic 2 1 Primary autosomal recessive microcephaly 5;not provided 2013-02-08 . 5.0 . 0 -157794 Simple 35897746 C . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -157795 Simple 587783225 G . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2016-01-19 9.0 3.5 Pathogenic/Likely pathogenic 1 -157797 Simple 587783227 A . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2018-01-12 9.6 2.5 Pathogenic/Likely pathogenic 1 -157800 Simple 142537154 T . Uncertain significance 2 4 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-05-23 -1.05 2.0 Uncertain significance 0 -157804 Simple 80058948 A . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -157806 Simple 181039922 G . Uncertain significance 2 3 Primary autosomal recessive microcephaly 5;not specified 2016-07-05 -0.78 2.3333333333333335 Uncertain significance 0 -157814 Simple 56912014 T . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -157815 Simple 587783240 - . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2017-09-07 9.6 2.5 Pathogenic/Likely pathogenic 1 -157823 Simple 140119882 A . Uncertain significance 2 4 Primary autosomal recessive microcephaly 5;not specified 2017-05-23 -0.99 2.5 Uncertain significance 0 -157826 Simple 587783246 C . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -157827 Simple 62624968 A . Benign/Likely benign 2 4 not specified;not provided;Primary Microcephaly, Recessive 2017-04-19 -18.0 2.0 Benign/Likely benign 0 -157828 Simple 80238010 A . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -157834 Simple 41299625 A . Uncertain significance 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-05-23 -0.78 2.0 Uncertain significance 0 -157836 Simple 77138363 A . Benign/Likely benign 2 4 not specified;not provided;Primary Microcephaly, Recessive 2017-04-19 -18.0 2.0 Benign/Likely benign 0 -157841 Simple 61249253 G . Benign/Likely benign 2 4 not specified;not provided;Primary Microcephaly, Recessive 2017-04-19 -18.0 2.0 Benign/Likely benign 0 -157842 Simple 186663906 C . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -157846 Simple 370907931 C . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -157851 Simple 145645602 C . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -157854 Simple 587783258 - . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2017-06-23 10.8 1.5 Pathogenic/Likely pathogenic 1 -157857 Simple 148425392 A . Benign/Likely benign 2 3 not specified;not provided 2016-09-12 -11.1 2.0 Benign/Likely benign 0 -157858 Simple 140922974 G . Benign/Likely benign 2 3 not specified 2016-06-09 -13.8 1.6666666666666667 Benign/Likely benign 0 -157860 Simple 587783260 C . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -157864 Simple 587783263 CAGTCAGT . Pathogenic 2 2 Primary autosomal recessive microcephaly 5 2016-09-20 10.2 2.5 Pathogenic/Likely pathogenic 1 -157869 Simple 200654820 A . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -157875 Simple 78215018 C . Uncertain significance 2 3 Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive 2017-10-25 -0.78 2.0 Uncertain significance 0 -157878 Simple 79572771 G . Benign/Likely benign 2 4 not specified;not provided;Primary Microcephaly, Recessive 2017-04-19 -15.0 2.0 Benign/Likely benign 0 -157890 Simple 372416792 C . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -157892 Simple 117963393 A . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -157894 Simple 587783280 - . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2016-09-15 10.2 2.5 Pathogenic/Likely pathogenic 1 -157895 Simple 587783281 C . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -157898 Simple 587783283 - . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2015-04-16 9.0 3.5 Pathogenic/Likely pathogenic 1 -157899 Simple 200856894 G . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -157900 Simple 115045814 C . Benign/Likely benign 2 4 not specified;Primary Microcephaly, Recessive 2016-06-14 -17.400000000000002 2.5 Benign/Likely benign 0 -157911 Simple 36004306 G . Uncertain significance 2 2 Primary autosomal recessive microcephaly 5;not specified 2016-08-11 -0.48 3.0 Uncertain significance 0 -157913 Simple 587783292 A . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2014-06-26 8.4 4.0 Pathogenic/Likely pathogenic 1 -157918 Simple 587783295 A . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2017-05-16 9.6 2.5 Pathogenic/Likely pathogenic 1 -157925 Simple 61733017 G . Benign/Likely benign 2 4 Dystonia 12;not specified;Alternating hemiplegia of childhood 2017-07-31 -18.0 0.5 Benign/Likely benign 0 -157926 Simple 2217342 C . Benign/Likely benign 2 3 Dystonia 12;not specified;Alternating hemiplegia of childhood 2016-06-14 -14.1 2.0 Benign/Likely benign 0 -157928 Simple 201738967 C . Likely pathogenic 2 5 Wilson disease;not provided 2017-08-04 15.0 0.6 Pathogenic 2 -157936 Simple 61733684 T . Benign/Likely benign 2 4 Wilson disease;not specified 2017-06-28 -15.6 1.75 Benign/Likely benign 0 -157938 Simple 139211339 C . Benign/Likely benign 2 2 not specified 2017-06-28 -6.6 2.5 Likely benign 1 -157939 Simple 191312027 T . Pathogenic/Likely pathogenic 2 5 Wilson disease;not provided 2017-06-13 21.0 2.0 Pathogenic 1 -157942 Simple 587783306 T . Pathogenic/Likely pathogenic 2 2 Wilson disease 2015-11-19 6.300000000000001 3.5 Likely pathogenic 1 -157957 Simple 181250704 A . Uncertain significance 2 3 not specified 2017-03-23 -0.87 1.0 Uncertain significance 0 -157962 Simple 28897765 C . Benign/Likely benign 2 2 Seckel syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -157965 Simple 2227930 T . Benign/Likely benign 2 4 Seckel syndrome;not specified 2016-06-14 -18.3 2.5 Benign/Likely benign 0 -157966 Simple 2227929 G . Benign 2 3 Seckel syndrome;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -157968 Simple 28910270 T . Benign/Likely benign 2 2 Seckel syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -157971 Simple 55895932 C . Benign/Likely benign 2 2 Seckel syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -157972 Simple 117926957 T . Uncertain significance 2 2 Seckel syndrome;Seckel syndrome 1 2016-06-14 -0.48 3.0 Uncertain significance 0 -157974 Simple 28910271 T . Benign/Likely benign 2 2 Seckel syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -157975 Simple 28910272 T . Benign/Likely benign 2 2 Seckel syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -157977 Simple 149008479 C . Uncertain significance 2 2 Seckel syndrome 1;not specified 2015-08-20 -0.48 3.0 Uncertain significance 0 -157981 Simple 56026468 T . Benign/Likely benign 2 3 Seckel syndrome;not specified 2016-12-29 -12.6 2.3333333333333335 Benign/Likely benign 0 -157985 Simple 148064542 A . Uncertain significance 2 2 Seckel syndrome;Seckel syndrome 1 2016-06-14 -0.54 2.0 Uncertain significance 0 -157987 Simple 200619976 A . Uncertain significance 2 2 Seckel syndrome;Seckel syndrome 1 2016-06-14 -0.48 3.0 Uncertain significance 0 -157989 Simple 55894265 C . Benign/Likely benign 2 3 Seckel syndrome;not specified;not provided 2017-02-27 -14.4 1.3333333333333333 Benign/Likely benign 0 -157992 Simple 2227931 G . Benign/Likely benign 2 2 Seckel syndrome;not specified 2016-06-14 -8.1 2.5 Likely benign 1 -157996 Simple 112018640 A . Benign/Likely benign 2 2 Seckel syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -158003 Simple 33972295 C . Benign/Likely benign 2 4 Seckel syndrome;not specified;not provided 2017-02-27 -18.0 2.25 Benign/Likely benign 0 -158005 Simple 2229033 G . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-23 -7.5 3.0 Likely benign 1 -158006 Simple 28897764 T . Benign/Likely benign 2 2 Seckel syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -158007 Simple 115938552 G . Benign/Likely benign 2 2 Autosomal recessive centronuclear myopathy;not specified 2017-06-16 -9.0 0.0 Benign/Likely benign 0 -158010 Simple 112318500 A . Benign/Likely benign 2 3 Autosomal recessive centronuclear myopathy;not specified 2017-08-01 -15.0 0.6666666666666666 Benign/Likely benign 0 -158011 Simple 138047593 C . Benign/Likely benign 2 3 Autosomal recessive centronuclear myopathy;not specified 2017-08-08 -12.6 1.6666666666666667 Benign/Likely benign 0 -158015 Simple 1060743 G . Benign/Likely benign 2 4 Autosomal recessive centronuclear myopathy;not specified 2016-06-14 -15.3 2.5 Benign/Likely benign 0 -158017 Simple 72481904 C . Benign/Likely benign 2 4 Autosomal recessive centronuclear myopathy;not specified 2016-06-14 -16.8 2.75 Benign/Likely benign 0 -158018 Simple 1137845 A . Benign/Likely benign 2 4 Autosomal recessive centronuclear myopathy;not specified 2016-06-14 -17.4 2.5 Benign/Likely benign 0 -158019 Simple 61748157 T . Benign/Likely benign 2 4 Autosomal recessive centronuclear myopathy;not specified 2016-06-14 -17.4 2.5 Benign/Likely benign 0 -158020 Simple 6720741 T . Benign/Likely benign 2 5 Autosomal recessive centronuclear myopathy;not specified 2016-06-14 -22.8 2.4 Benign/Likely benign 0 -158022 Simple 2228955 T . Benign/Likely benign 2 5 Autosomal recessive centronuclear myopathy;not specified 2016-06-14 -21.3 2.2 Benign/Likely benign 0 -158025 Simple 2276579 A . Benign/Likely benign 2 5 Autosomal recessive centronuclear myopathy;not specified 2016-06-14 -20.1 2.6 Benign/Likely benign 0 -158026 Simple 61745362 C . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-04-20 -14.4 1.0 Benign/Likely benign 0 -158027 Simple 13356183 T . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -158028 Simple 115435816 G . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -158030 Simple 28514632 A . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -158032 Simple 73750958 T . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-02-22 -15.0 1.0 Benign/Likely benign 0 -158033 Simple 74478954 T . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-04-19 -15.0 0.6666666666666666 Benign/Likely benign 0 -158036 Simple 6859950 G . Benign/Likely benign 2 2 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-04-20 -9.0 0.5 Benign/Likely benign 0 -158037 Simple 143312971 C . Benign/Likely benign 2 3 Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-07-25 -11.4 1.0 Benign/Likely benign 0 -158038 Simple 79377186 C . Benign/Likely benign 2 4 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17;not provided 2017-04-19 -21.0 0.75 Benign/Likely benign 0 -158039 Simple 73750949 A . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-02-22 -15.0 1.0 Benign/Likely benign 0 -158040 Simple 75589774 A . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -158042 Simple 76245173 C . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-04-27 -15.0 0.6666666666666666 Benign/Likely benign 0 -158045 Simple 78315844 A . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-04-27 -15.0 0.6666666666666666 Benign/Likely benign 0 -158046 Simple 10805625 G . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -158047 Simple 61746147 G . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -158048 Simple 10076911 C . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -158049 Simple 6884652 C . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-08-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -158051 Simple 117995360 G . Benign/Likely benign 2 1 Joubert syndrome;not specified 2016-06-14 . 1.0 . 0 -158052 Simple 16903518 A . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -158053 Simple 6876576 A . Benign/Likely benign 2 1 not specified 2016-01-08 . 2.0 . 0 -158056 Simple 58401892 A . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-04-19 -15.0 0.6666666666666666 Benign/Likely benign 0 -158057 Simple 201404524 A . Uncertain significance 2 2 Joubert syndrome;Joubert syndrome 17 2016-06-14 -0.54 2.0 Uncertain significance 0 -158058 Simple 16903514 C . Benign/Likely benign 2 5 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-06-28 -25.8 1.2 Benign 1 -158059 Simple 16903511 C . Benign/Likely benign 2 5 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-06-28 -25.8 1.2 Benign 1 -158060 Simple 7702892 T . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -158062 Simple 73750959 T . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-02-22 -15.0 1.0 Benign/Likely benign 0 -158068 Simple 138290714 C . Benign/Likely benign 2 4 Mental retardation, CASK-related, X-linked;not specified 2017-06-27 -20.4 1.0 Benign/Likely benign 0 -158069 Simple 587783360 A . Pathogenic 2 2 Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided 2016-06-03 10.8 2.0 Pathogenic/Likely pathogenic 1 -158084 Simple 587783369 T . Likely pathogenic 2 2 Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided 2016-01-21 5.1 2.5 Likely pathogenic 0 -158086 Simple 587783370 A . Pathogenic 2 2 Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided 2017-02-07 10.8 2.0 Pathogenic/Likely pathogenic 1 -158126 Simple 145165171 A . Likely benign 2 2 not specified 2016-01-04 -4.5 3.5 Likely benign 0 -158133 Simple 36001459 A . Benign/Likely benign 2 2 not specified 2016-08-24 -6.6 3.0 Likely benign 1 -158142 Simple 77925703 C . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -158152 Simple 587783390 A . Pathogenic/Likely pathogenic 2 2 Primary autosomal recessive microcephaly 3 2013-04-30 6.300000000000001 4.0 Likely pathogenic 1 -158154 Simple 16909747 G . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -158156 Simple 141004029 C . Uncertain significance 2 2 Primary autosomal recessive microcephaly 3;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -158159 Simple 587783394 G . Uncertain significance 2 2 Primary autosomal recessive microcephaly 3;not specified 2017-03-23 -0.48 2.5 Uncertain significance 0 -158161 Simple 545543130 A . Uncertain significance 2 2 Primary autosomal recessive microcephaly 3;not specified 2016-10-19 -0.51 2.5 Uncertain significance 0 -158162 Simple 3739822 A . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -158167 Simple 77100552 G . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -158169 Simple 369568564 A . Uncertain significance 2 2 Primary autosomal recessive microcephaly 3;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -158173 Simple 145272328 A . Uncertain significance 2 3 Primary autosomal recessive microcephaly 3;not specified;not provided 2016-09-30 -0.81 2.0 Uncertain significance 0 -158189 Simple 191294997 G . Benign/Likely benign 2 3 not specified 2016-05-31 -14.1 2.0 Benign/Likely benign 0 -158190 Simple 3741341 T . Benign/Likely benign 2 2 Beckwith-Wiedemann syndrome;not specified 2017-08-11 -8.1 2.0 Likely benign 1 -158193 Simple 145679691 T . Uncertain significance 2 5 Primary autosomal recessive microcephaly 6;Seckel syndrome;Seckel syndrome 4;not specified;Primary Microcephaly, Recessive 2017-05-23 -1.3499999999999999 1.8 Uncertain significance 0 -158196 Simple 138732534 C . Uncertain significance 2 2 Primary autosomal recessive microcephaly 6;not specified 2016-09-20 -0.48 3.0 Uncertain significance 0 -158197 Simple 61743613 C . Likely benign 2 2 not specified 2016-01-14 -4.800000000000001 3.0 Likely benign 0 -158198 Simple 140927921 T . Uncertain significance 2 3 Primary autosomal recessive microcephaly 6;Seckel syndrome;Primary Microcephaly, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -158199 Simple 61729909 A . Benign/Likely benign 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -158202 Simple 149885751 A . Uncertain significance 2 2 Primary autosomal recessive microcephaly 6;not specified 2016-06-02 -0.48 3.0 Uncertain significance 0 -158203 Simple 9511510 T . Benign/Likely benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -158206 Simple 61739263 C . Benign/Likely benign 2 5 Seckel syndrome;not specified;not provided;Primary Microcephaly, Recessive 2016-09-23 -19.2 1.6 Benign/Likely benign 0 -158207 Simple 3742165 C . Benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -158208 Simple 9318917 C . Benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -158209 Simple 3742163 G . Benign/Likely benign 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -158213 Simple 34991318 - . Benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -158214 Simple 144251950 A . Uncertain significance 2 2 Primary autosomal recessive microcephaly 6;not provided 2017-05-31 -0.48 2.5 Uncertain significance 0 -158215 Simple 587783411 C . Uncertain significance 2 3 Primary autosomal recessive microcephaly 6;Seckel syndrome;Primary Microcephaly, Recessive 2016-06-14 -0.78 2.3333333333333335 Uncertain significance 0 -158216 Simple 200061825 A . Uncertain significance 2 3 Primary autosomal recessive microcephaly 6;Seckel syndrome;Primary Microcephaly, Recessive 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -158219 Simple 116981543 C . Benign/Likely benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -158229 Simple 78525896 T . Likely benign 2 4 Seckel syndrome;not specified;not provided;Primary Microcephaly, Recessive 2017-04-27 -10.8 1.75 Benign/Likely benign 1 -158230 Simple 80239443 C . Uncertain significance 2 3 Seckel syndrome;Primary autosomal recessive microcephaly 9;Primary Microcephaly, Recessive 2016-06-14 -0.78 2.3333333333333335 Uncertain significance 0 -158235 Simple 116089174 G . Benign/Likely benign 2 2 not specified 2015-11-17 -8.100000000000001 2.0 Likely benign 1 -158236 Simple 75503597 T . Benign/Likely benign 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -158246 Simple 117557829 A . Uncertain significance 2 3 Seckel syndrome;Primary autosomal recessive microcephaly 9;Primary Microcephaly, Recessive 2016-06-14 -0.78 2.3333333333333335 Uncertain significance 0 -158254 Simple 16961557 G . Benign/Likely benign 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -158263 Simple 114085678 G . Benign/Likely benign 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -15.600000000000001 2.0 Benign/Likely benign 0 -158266 Simple 77745570 G . Likely benign 2 2 not specified 2017-08-09 -6.0 0.5 Likely benign 0 -158267 Simple 74986073 G . Benign/Likely benign 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -158270 Simple 368764302 A . Benign/Likely benign 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -158274 Simple 58156069 T . Benign 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -158279 Simple 587783429 T . Pathogenic 2 4 CHARGE association;not specified;not provided 2017-02-14 21.6 2.0 Pathogenic 0 -158282 Simple 141947938 A . Benign/Likely benign 2 3 CHARGE association;not specified 2017-07-03 -13.8 3.0 Benign/Likely benign 0 -158287 Simple 587783436 - . Pathogenic 2 2 CHARGE association;not provided 2016-09-21 9.6 3.0 Pathogenic/Likely pathogenic 1 -158292 Simple 199581494 A . Likely benign 2 1 not specified 2013-02-08 . 5.0 . 0 -158296 Simple 587783442 T . Pathogenic 2 2 CHARGE association 2017-10-27 9.6 2.5 Pathogenic/Likely pathogenic 1 -158302 Simple 587783446 T . Pathogenic 2 2 CHARGE association;not provided 2017-10-31 9.6 2.5 Pathogenic/Likely pathogenic 1 -158306 Simple 6999971 A . Benign/Likely benign 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-08-17 -20.4 2.0 Benign/Likely benign 0 -158307 Simple 587783450 T . Pathogenic 2 2 CHARGE association;not provided 2015-12-30 9.0 3.5 Pathogenic/Likely pathogenic 1 -158309 Simple 587783451 G . Likely pathogenic 2 2 CHARGE association 2016-09-05 4.8 3.0 Likely pathogenic 0 -158311 Simple 61753399 A . Benign/Likely benign 2 3 CHARGE association;not specified 2017-07-03 -15.6 2.0 Benign/Likely benign 0 -158313 Simple 587783454 T . Pathogenic 2 2 CHARGE association 2015-08-26 9.0 3.5 Pathogenic/Likely pathogenic 1 -158314 Simple 587783455 T . Pathogenic 2 2 CHARGE association 2017-04-18 9.6 2.5 Pathogenic/Likely pathogenic 1 -158317 Simple 192129249 C . Benign/Likely benign 2 6 CHARGE association;Hypogonadism with anosmia;not specified 2017-06-28 -21.0 2.0 Benign/Likely benign 0 -158320 Simple 587783457 T . Pathogenic 2 3 CHARGE association;not provided 2017-04-04 15.0 2.3333333333333335 Pathogenic 0 -158321 Simple 587783458 T . Pathogenic 2 3 CHARGE association;not provided 2017-08-08 16.2 1.6666666666666667 Pathogenic 0 -158324 Simple 7836586 A . Benign/Likely benign 2 1 not specified 2016-12-14 . 1.0 . 0 -158325 Simple 4540437 A . Benign/Likely benign 2 1 not specified 2016-12-14 . 1.0 . 0 -158328 Simple 61995713 G . Benign/Likely benign 2 3 CHARGE association;not specified 2016-09-11 -12.6 2.6666666666666665 Benign/Likely benign 0 -158329 Simple 61736186 T . Benign/Likely benign 2 3 CHARGE association;not specified 2016-09-11 -13.2 2.3333333333333335 Benign/Likely benign 0 -158331 Simple 4845378 T . Benign/Likely benign 2 1 not specified 2016-03-16 . 1.0 . 0 -158332 Simple 79137415 C . Benign/Likely benign 2 5 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;not provided 2017-08-31 -23.4 0.8 Benign/Likely benign 0 -158333 Simple 3926124 G . Benign/Likely benign 2 1 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-08-11 . 0.0 . 0 -158342 Simple 130003 G . Benign 2 3 Rubinstein-Taybi syndrome;not specified 2017-06-20 -14.4 2.6666666666666665 Benign/Likely benign 1 -158350 Simple 3025694 T . Benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-08-24 -9.6 3.0 Benign/Likely benign 1 -158359 Simple 587783483 T . Pathogenic 2 3 Rubinstein-Taybi syndrome;not provided 2017-02-08 14.4 3.0 Pathogenic/Likely pathogenic 1 -158362 Simple 129974 T . Benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-08-24 -9.6 3.0 Benign/Likely benign 1 -158381 Simple 130008 G . Benign 2 2 not specified 2015-09-17 -9.0 3.5 Benign/Likely benign 1 -158386 Simple 61754523 T . Benign 2 2 not specified 2016-02-05 -9.0 3.5 Benign/Likely benign 1 -158387 Simple 587783504 G . Uncertain significance 2 2 Rubinstein-Taybi syndrome;not specified 2015-04-01 -0.48 3.0 Uncertain significance 0 -158398 Simple 142545779 G . Benign 2 2 not specified 2015-03-04 -8.4 4.0 Benign/Likely benign 1 -158404 Simple 1106639 A . Benign/Likely benign 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -8.1 2.5 Likely benign 1 -158405 Simple 144668507 T . Likely benign 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -5.1 2.5 Likely benign 0 -158406 Simple 1105273 T . Benign/Likely benign 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -8.1 2.5 Likely benign 1 -158407 Simple 141343442 C . Likely benign 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -5.1 2.5 Likely benign 0 -158410 Simple 146578303 A . Likely benign 2 3 not specified;not provided;D-2-hydroxyglutaric aciduria 2016-07-07 -8.7 1.3333333333333333 Benign/Likely benign 1 -158413 Simple 111670322 A . Likely benign 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -5.1 2.5 Likely benign 0 -158414 Simple 77940364 A . Benign/Likely benign 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -8.1 2.5 Likely benign 1 -158416 Simple 148813816 A . Likely benign 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -5.1 2.5 Likely benign 0 -158420 Simple 4675887 G . Benign/Likely benign 2 3 not specified;not provided;D-2-hydroxyglutaric aciduria 2016-06-14 -11.1 2.0 Benign/Likely benign 0 -158423 Simple 4234097 C . Benign/Likely benign 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -8.1 2.5 Likely benign 1 -158476 Simple 587783562 A . Pathogenic 2 2 Heterotopia;not provided 2017-03-30 9.6 2.5 Pathogenic/Likely pathogenic 1 -158481 Simple 587783566 C . Pathogenic 2 2 Heterotopia;not provided 2017-05-30 9.6 2.5 Pathogenic/Likely pathogenic 1 -158485 Simple 587783568 A . Pathogenic/Likely pathogenic 2 2 Heterotopia;not provided 2017-06-12 6.6 2.5 Likely pathogenic 1 -158487 Simple 587783569 G . Likely pathogenic 2 2 Heterotopia;not provided 2016-08-08 4.8 3.0 Likely pathogenic 0 -158507 Simple 587783588 A . Pathogenic 2 2 Lissencephaly, X-linked;Heterotopia 2014-09-02 8.4 4.0 Pathogenic/Likely pathogenic 1 -158509 Simple 587783590 A . Pathogenic 2 2 Heterotopia;not provided 2016-05-23 10.8 2.0 Pathogenic/Likely pathogenic 1 -158511 Simple 587783592 A . Pathogenic 2 2 Heterotopia;not provided 2017-05-16 9.6 2.5 Pathogenic/Likely pathogenic 1 -158514 Simple 587783595 A . Pathogenic 2 3 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not provided;Myopathy, centronuclear 2017-06-29 15.6 2.0 Pathogenic 0 -158517 Simple 78580529 T . Benign 2 2 not specified 2015-12-08 -9.0 3.5 Benign/Likely benign 1 -158520 Simple 587783598 G . Pathogenic/Likely pathogenic 2 2 not provided;Myopathy, centronuclear 2016-08-17 7.8 3.0 Likely pathogenic 1 -158521 Simple 2229919 T . Benign/Likely benign 2 6 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-25 -21.900000000000002 1.8333333333333333 Benign/Likely benign 0 -158523 Simple 2229920 C . Benign/Likely benign 2 5 not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-12 -24.9 1.8 Benign 1 -158525 Simple 113192269 G . Benign/Likely benign 2 5 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;not provided;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-08-04 -18.6 1.6 Benign/Likely benign 0 -158526 Simple 114682382 A . Benign 2 3 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified 2017-08-07 -15.0 2.3333333333333335 Benign/Likely benign 1 -158527 Simple 201979143 G . Benign/Likely benign 2 5 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-08-07 -18.6 2.0 Benign/Likely benign 0 -158529 Simple 150613209 A . Benign/Likely benign 2 3 not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -158531 Simple 3048 T . Benign 2 2 not specified 2016-03-29 -9.6 3.0 Benign/Likely benign 1 -158555 Simple 35508493 - . Benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -158557 Simple 17002307 C . Likely benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -158559 Simple 17002316 C . Benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -158562 Simple 20554 A . Benign 2 3 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2;not specified 2017-05-16 -15.6 2.0 Benign/Likely benign 1 -158563 Simple 76268515 T . Benign/Likely benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -158566 Simple 73176628 T . Benign/Likely benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -158568 Simple 34985152 T . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2;not specified 2017-06-23 -12.6 2.0 Benign/Likely benign 0 -158569 Simple 142673005 A . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;not specified 2016-06-14 -9.9 2.6666666666666665 Benign/Likely benign 0 -158571 Simple 20553 T . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;not specified 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -158576 Simple 77051363 G . Benign 2 2 Weaver syndrome;not specified 2017-07-09 -9.6 2.5 Benign/Likely benign 1 -158577 Simple 41277437 T . Benign/Likely benign 2 3 Weaver syndrome;not specified 2017-07-31 -12.6 2.0 Benign/Likely benign 0 -158578 Simple 78589034 A . Benign/Likely benign 2 3 Weaver syndrome;not specified 2017-04-25 -11.7 1.0 Benign/Likely benign 0 -158581 Simple 115842196 G . Benign/Likely benign 2 4 Weaver syndrome;not specified;not provided 2017-07-09 -16.2 1.75 Benign/Likely benign 0 -158586 Simple 587783628 G . Benign 2 2 not specified 2014-10-16 -8.4 4.0 Benign/Likely benign 1 -158590 Simple 587783632 . . Likely benign 2 2 not specified 2013-02-08 -3.6 5.0 Uncertain significance 2 -158594 Simple 587783636 - . Pathogenic 2 2 Rett syndrome, congenital variant;not provided 2015-01-06 8.4 4.0 Pathogenic/Likely pathogenic 1 -158602 Simple 587783643 A . Likely pathogenic 2 2 Rett syndrome, congenital variant;not provided 2016-04-05 4.8 3.0 Likely pathogenic 0 -158607 Simple 143343083 A . Pathogenic/Likely pathogenic 2 4 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment 2017-03-14 18.0 2.25 Pathogenic 1 -158608 Simple 587783646 - . Pathogenic/Likely pathogenic 2 3 Deafness, autosomal recessive 1A;Hearing impairment;not provided 2017-06-09 12.0 2.6666666666666665 Pathogenic/Likely pathogenic 0 -158609 Simple 587783647 - . Pathogenic/Likely pathogenic 2 7 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;Hearing impairment;not provided 2017-05-09 29.1 1.8571428571428572 Pathogenic 1 -158612 Simple 186479054 A . Likely benign 2 3 not specified 2017-01-26 -8.4 1.6666666666666667 Benign/Likely benign 1 -158617 Simple 7198790 T . Benign 2 2 not specified 2016-05-23 -9.6 3.0 Benign/Likely benign 1 -158618 Simple 587783652 T . Pathogenic 2 2 Polymicrogyria, bilateral frontoparietal 2015-01-05 9.0 3.5 Pathogenic/Likely pathogenic 1 -158620 Simple 587783654 C . Likely pathogenic 2 2 Polymicrogyria, bilateral frontoparietal;not provided 2016-01-20 4.5 3.5 Likely pathogenic 0 -158624 Simple 2290177 T . Benign 2 1 not specified 2013-02-08 . 5.0 . 0 -158630 Simple 587783659 A . Uncertain significance 2 2 Polymicrogyria, bilateral frontoparietal;not specified 2017-06-29 -0.48 2.5 Uncertain significance 0 -158632 Simple 113005540 T . Benign 2 3 not specified 2016-10-17 -15.0 2.6666666666666665 Benign/Likely benign 1 -158638 Simple 146704802 C . Benign 2 2 not specified 2016-04-01 -11.4 1.5 Benign/Likely benign 1 -158640 Simple 1801255 C . Benign 2 1 not specified 2013-02-08 . 5.0 . 0 -158643 Simple 186639101 G . Benign/Likely benign 2 4 not specified 2017-10-06 -12.3 2.75 Benign/Likely benign 0 -158651 Simple 148097083 A . Benign/Likely benign 2 2 not specified 2015-06-30 -9.0 3.5 Benign/Likely benign 0 -158653 Simple 35791889 T . Benign/Likely benign 2 2 not specified;not provided 2015-06-04 -9.0 3.5 Benign/Likely benign 0 -158655 Simple 114137750 T . Benign/Likely benign 2 2 not specified;not provided 2016-12-02 -6.6 3.0 Likely benign 1 -158659 Simple 11093377 T . Benign 2 1 not specified 2013-09-26 . 4.0 . 0 -158662 Simple 72630048 A . Benign 2 1 not specified 2013-02-08 . 5.0 . 0 -158663 Simple 11540478 A . Benign/Likely benign 2 2 D-2-hydroxyglutaric aciduria 2;not specified 2017-08-01 -8.1 2.0 Likely benign 1 -158670 Simple 5215 T . Benign/Likely benign 2 5 Islet cell hyperplasia;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-05-31 -18.6 1.6 Benign/Likely benign 0 -158671 Simple 5214 C . Benign/Likely benign 2 4 not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -158672 Simple 8175351 T . Benign/Likely benign 2 5 Islet cell hyperplasia;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-05-19 -18.6 1.6 Benign/Likely benign 0 -158680 Simple 5218 A . Benign/Likely benign 2 5 Islet cell hyperplasia;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-04-28 -18.6 1.6 Benign/Likely benign 0 -158684 Simple 5216 C . Benign/Likely benign 2 6 Islet cell hyperplasia;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-05-19 -24.6 1.5 Benign 1 -158685 Simple 1800467 C . Benign/Likely benign 2 7 Islet cell hyperplasia;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive;Monogenic diabetes 2017-05-19 -30.6 1.4285714285714286 Benign 1 -158689 Simple 20539 A . Benign 2 2 not specified 2016-03-22 -10.2 2.5 Benign/Likely benign 1 -158690 Simple 5952682 C . Benign 2 2 not specified 2015-10-20 -9.600000000000001 3.0 Benign/Likely benign 1 -158691 Simple 370765411 A . Uncertain significance 2 2 not specified;Kabuki syndrome 2 2015-03-26 -0.51 2.5 Uncertain significance 0 -158692 Simple 16926021 A . Benign 2 2 not specified 2016-03-02 -9.0 3.5 Benign/Likely benign 1 -158694 Simple 35893997 T . Benign 2 2 not specified 2016-02-23 -9.0 3.5 Benign/Likely benign 1 -158696 Simple 2255607 A . Benign 2 2 not specified 2016-01-11 -9.0 3.5 Benign/Likely benign 1 -158697 Simple 62625033 C . Benign/Likely benign 2 3 not specified 2017-01-23 -12.0 2.6666666666666665 Benign/Likely benign 0 -158698 Simple 148768851 G . Benign/Likely benign 2 2 not specified 2016-09-02 -9.0 1.0 Benign/Likely benign 0 -158702 Simple 9332801 C . Benign 2 1 not specified 2013-11-19 . 4.0 . 0 -158705 Simple 7107305 G . Benign 2 1 not specified 2013-11-19 . 4.0 . 0 -158707 Simple 2071702 T . Benign 2 1 not specified 2013-11-19 . 4.0 . 0 -158711 Simple 9332745 G . Benign/Likely benign 2 2 not specified;not provided 2017-01-24 -7.2 2.5 Likely benign 1 -158714 Simple 371444130 T . Uncertain significance 2 2 Kabuki syndrome 1;not specified 2015-02-20 -0.44999999999999996 3.5 Uncertain significance 0 -158728 Simple 587783689 - . Pathogenic/Likely pathogenic 2 1 Kabuki syndrome 1 2013-02-08 . 5.0 . 0 -158731 Simple 587783692 A . Pathogenic 2 3 Kabuki syndrome 1;Kabuki syndrome 2017-07-27 14.4 2.6666666666666665 Pathogenic/Likely pathogenic 1 -158734 Simple 587783695 A . Pathogenic 2 2 Kabuki syndrome 1 2014-01-02 8.4 4.0 Pathogenic/Likely pathogenic 1 -158744 Simple 587783703 - . Pathogenic 2 2 Kabuki syndrome 1 2015-02-05 9.0 3.5 Pathogenic/Likely pathogenic 1 -158747 Simple 147212187 C . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -10.5 2.3333333333333335 Benign/Likely benign 0 -158748 Simple 200116899 T . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2016-11-17 -10.8 2.3333333333333335 Benign/Likely benign 0 -158758 Simple 587783711 A . Pathogenic 2 2 Kabuki syndrome 1 2015-03-13 9.0 3.5 Pathogenic/Likely pathogenic 1 -158773 Simple 587783721 T . Likely benign 2 2 not specified 2016-03-02 -5.1 2.5 Likely benign 0 -158779 Simple 201931833 C . Likely benign 2 3 not specified;Kabuki syndrome 2017-06-16 -8.7 1.0 Benign/Likely benign 1 -158783 Simple 111305262 G . Benign/Likely benign 2 4 not specified;Kabuki syndrome 2017-07-27 -18.6 2.25 Benign/Likely benign 0 -158793 Simple 183688784 A . Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -7.5 2.6666666666666665 Likely benign 0 -158796 Simple 1042512 A . Benign 2 2 not specified;Spastic paraplegia 2017-08-01 -10.2 2.0 Benign/Likely benign 1 -158804 Simple 115076367 G . Benign/Likely benign 2 5 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-08-11 -22.2 1.4 Benign/Likely benign 0 -158805 Simple 63446460 G . Benign/Likely benign 2 5 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-08-07 -22.8 1.0 Benign/Likely benign 0 -158807 Simple 116164106 T . Uncertain significance 2 7 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Muscular dystrophy;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-07-24 -2.01 1.1428571428571428 Uncertain significance 0 -158810 Simple 2233066 A . Benign/Likely benign 2 2 not specified;not provided 2017-06-15 -8.1 2.0 Likely benign 1 -158811 Simple 74004212 A . Benign/Likely benign 2 2 not specified;not provided 2017-06-15 -8.1 2.0 Likely benign 1 -158812 Simple 2233070 T . Benign/Likely benign 2 2 not specified 2015-08-18 -7.5 3.0 Likely benign 1 -158814 Simple 191559595 G . Benign/Likely benign 2 2 not specified 2015-10-05 -7.5 3.0 Likely benign 1 -158817 Simple 539491399 A . Uncertain significance 2 2 Primary autosomal recessive microcephaly 1;Primary Microcephaly, Recessive 2016-06-14 -0.48 3.0 Uncertain significance 0 -158818 Simple 201261159 A . Uncertain significance 2 2 Primary autosomal recessive microcephaly 1;not specified 2015-10-30 -0.48 3.0 Uncertain significance 0 -158820 Simple 202004426 A . Uncertain significance 2 2 Primary autosomal recessive microcephaly 1;not specified 2015-07-23 -0.51 2.5 Uncertain significance 0 -158822 Simple 201405704 T . Uncertain significance 2 2 Primary autosomal recessive microcephaly 1;not specified 2015-10-09 -0.48 3.0 Uncertain significance 0 -158823 Simple 141218500 T . Uncertain significance 2 2 Primary autosomal recessive microcephaly 1;Primary Microcephaly, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -158824 Simple 35551093 T . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -158825 Simple 41313954 T . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -158827 Simple 2584 A . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2017-08-02 -12.6 2.0 Benign/Likely benign 0 -158834 Simple 12674488 A . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2017-08-02 -12.6 2.0 Benign/Likely benign 0 -158842 Simple 11137040 G . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -158844 Simple 2912010 T . Benign 2 4 not specified;Primary Microcephaly, Recessive 2017-08-02 -20.4 2.25 Benign/Likely benign 1 -158851 Simple 2305022 T . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2017-08-02 -16.2 1.6666666666666667 Benign/Likely benign 0 -158855 Simple 7017210 T . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -158857 Simple 2912016 A . Benign 2 4 not specified;Primary Microcephaly, Recessive 2017-08-02 -20.4 2.25 Benign/Likely benign 1 -158863 Simple 587783739 C . Pathogenic/Likely pathogenic 2 1 Primary autosomal recessive microcephaly 1;not provided 2012-11-29 . 5.0 . 0 -158872 Simple 2922828 A . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -158875 Simple 34121009 G . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -158876 Simple 35590577 A . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -158879 Simple 2083914 T . Benign/Likely benign 2 3 not specified;Primary Microcephaly, Recessive 2017-08-02 -12.6 2.0 Benign/Likely benign 0 -158886 Simple 587783747 A . Pathogenic 2 3 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;not provided 2017-11-09 15.0 2.3333333333333335 Pathogenic 0 -158887 Simple 587783748 A . Likely benign 2 2 not specified 2015-11-05 -5.1 2.5 Likely benign 0 -158888 Simple 587783749 - . Pathogenic 2 2 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;not provided 2016-01-08 9.0 3.5 Pathogenic/Likely pathogenic 1 -158894 Simple 587783752 - . Pathogenic 2 2 Severe X-linked myotubular myopathy 2015-07-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -158895 Simple 587783753 T . Pathogenic 2 2 Severe X-linked myotubular myopathy;not provided 2017-11-02 9.6 2.5 Pathogenic/Likely pathogenic 1 -158913 Simple 587783771 T . Pathogenic 2 2 Severe X-linked myotubular myopathy 2015-07-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -158914 Simple 587783772 A . Pathogenic 2 3 Severe X-linked myotubular myopathy;not provided 2017-09-07 15.6 2.0 Pathogenic 0 -158935 Simple 587783792 T . Pathogenic 2 3 Severe X-linked myotubular myopathy;not provided 2017-08-10 15.6 2.0 Pathogenic 0 -158956 Simple 587783810 A . Pathogenic 2 2 Severe X-linked myotubular myopathy;not provided 2017-02-07 9.6 3.0 Pathogenic/Likely pathogenic 1 -158992 Simple 184956219 C . Benign 2 3 not specified 2016-09-29 -15.0 2.6666666666666665 Benign/Likely benign 1 -159001 Simple 587783854 T . Pathogenic 2 2 Severe X-linked myotubular myopathy;not provided 2017-11-24 9.6 2.5 Pathogenic/Likely pathogenic 1 -159005 Simple 587783858 A . Pathogenic 2 2 Severe X-linked myotubular myopathy 2017-03-03 9.6 3.0 Pathogenic/Likely pathogenic 1 -159014 Simple 587783867 T . Uncertain significance 2 2 Lissencephaly 4;not specified 2016-09-28 -0.51 2.5 Uncertain significance 0 -159020 Simple 146284370 T . Uncertain significance 2 2 Lissencephaly 4;not specified 2015-11-09 -0.48 3.0 Uncertain significance 0 -159022 Simple 141262029 T . Uncertain significance 2 2 Lissencephaly 4;not specified 2017-07-17 -0.54 1.5 Uncertain significance 0 -159041 Simple 587783892 T . Pathogenic 2 2 Cornelia de Lange syndrome 1 2015-10-05 9.0 3.5 Pathogenic/Likely pathogenic 1 -159044 Simple 201482152 T . Uncertain significance 2 2 Cornelia de Lange syndrome 1;Cornelia de Lange Syndrome 2016-06-14 -0.48 3.0 Uncertain significance 0 -159068 Simple 587783913 G . Likely benign 2 2 not specified 2016-02-12 -4.5 3.5 Likely benign 0 -159069 Simple 142184978 T . Benign/Likely benign 2 4 not specified;Cornelia de Lange Syndrome 2016-06-14 -13.5 3.0 Benign/Likely benign 0 -159070 Simple 587783914 - . Pathogenic 2 2 Cornelia de Lange syndrome 1;not provided 2016-03-04 9.0 3.5 Pathogenic/Likely pathogenic 1 -159072 Simple 587783916 G . Uncertain significance 2 2 Cornelia de Lange syndrome 1;not specified 2016-03-21 -0.48 3.0 Uncertain significance 0 -159074 Simple 457583 G . Benign/Likely benign 2 3 not specified;Cornelia de Lange Syndrome 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -159087 Simple 35748854 C . Benign/Likely benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -6.6 3.0 Likely benign 1 -159092 Simple 143252734 A . Likely benign 2 2 not specified 2016-02-18 -4.5 3.5 Likely benign 0 -159108 Simple 298972 G . Benign/Likely benign 2 4 not specified;Cornelia de Lange Syndrome 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -159112 Simple 377381536 G . Likely benign 2 3 not specified;Cornelia de Lange Syndrome 2016-12-16 -7.8 2.3333333333333335 Likely benign 0 -159114 Simple 587783946 G . Uncertain significance 2 2 Cornelia de Lange syndrome 1;Cornelia de Lange Syndrome 2016-06-14 -0.51 2.5 Uncertain significance 0 -159119 Simple 115403650 T . Benign 2 2 not specified 2016-12-07 -9.6 3.0 Benign/Likely benign 1 -159121 Simple 587783952 G . Pathogenic 2 2 Cornelia de Lange syndrome 1 2016-08-24 9.6 3.0 Pathogenic/Likely pathogenic 1 -159154 Simple 587783978 A . Pathogenic 2 2 Cornelia de Lange syndrome 1 2014-03-21 8.4 4.0 Pathogenic/Likely pathogenic 1 -159191 Simple 587784009 A . Pathogenic 2 2 Cornelia de Lange syndrome 1 2016-12-27 9.6 3.0 Pathogenic/Likely pathogenic 1 -159211 Simple 587784024 A . Pathogenic 2 2 Cornelia de Lange syndrome 1;not provided 2017-08-28 9.6 2.5 Pathogenic/Likely pathogenic 1 -159217 Simple 587784030 C . Pathogenic/Likely pathogenic 2 2 Cornelia de Lange syndrome 1;not provided 2016-08-03 8.1 2.5 Likely pathogenic 1 -159223 Simple 587784036 A . Pathogenic/Likely pathogenic 2 2 Cornelia de Lange syndrome 1;not provided 2017-05-05 6.6 2.5 Likely pathogenic 1 -159235 Simple 587784048 A . Pathogenic 2 2 Cornelia de Lange syndrome 1 2015-10-05 9.0 3.5 Pathogenic/Likely pathogenic 1 -159237 Simple 16903425 G . Benign/Likely benign 2 3 not specified;Cornelia de Lange Syndrome 2016-12-07 -12.6 2.3333333333333335 Benign/Likely benign 0 -159238 Simple 115668015 C . Benign/Likely benign 2 5 not specified;Cornelia de Lange Syndrome 2017-03-21 -24.0 1.8 Benign 1 -159249 Simple 587784060 - . Pathogenic 2 2 Cornelia de Lange syndrome 1 2016-10-25 9.6 3.0 Pathogenic/Likely pathogenic 1 -159256 Simple 3729753 G . Benign/Likely benign 2 2 Atrial septal defect 7 with or without atrioventricular conduction defects;not specified 2017-07-28 -10.8 1.5 Benign/Likely benign 0 -159270 Simple 116520623 T . Likely benign 2 1 not specified 2013-02-08 . 5.0 . 0 -159271 Simple 587784076 T . Pathogenic 2 3 Beckwith-Wiedemann syndrome;Sotos syndrome 1;not provided 2017-01-12 15.6 2.3333333333333335 Pathogenic 0 -159272 Simple 61744451 T . Benign 2 3 Beckwith-Wiedemann syndrome;not specified 2016-09-06 -16.8 1.6666666666666667 Benign/Likely benign 1 -159273 Simple 587784077 T . Pathogenic 2 2 Sotos syndrome 1;not provided 2015-09-16 9.0 3.5 Pathogenic/Likely pathogenic 1 -159279 Simple 28932177 A . Benign/Likely benign 2 5 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-07-26 -21.0 1.8 Benign/Likely benign 0 -159281 Simple 11948062 T . Likely benign 2 1 not specified 2013-02-08 . 5.0 . 0 -159284 Simple 146767413 T . Benign/Likely benign 2 3 Beckwith-Wiedemann syndrome;not specified 2016-09-20 -12.6 2.3333333333333335 Benign/Likely benign 0 -159290 Simple 142703625 C . Likely benign 2 4 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-05-18 -10.8 1.75 Benign/Likely benign 1 -159294 Simple 587784092 - . Pathogenic 2 2 Sotos syndrome 1;not provided 2016-06-14 9.6 3.0 Pathogenic/Likely pathogenic 1 -159296 Simple 150854966 T . Uncertain significance 2 2 Sotos syndrome 1;not specified 2015-07-30 -0.45 3.5 Uncertain significance 0 -159300 Simple 587784096 T . Pathogenic 2 2 Sotos syndrome 1;not provided 2015-04-11 9.0 3.5 Pathogenic/Likely pathogenic 1 -159301 Simple 28932179 C . Benign/Likely benign 2 6 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-07-26 -25.8 2.0 Benign 1 -159308 Simple 77093936 T . Benign/Likely benign 2 5 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2016-12-15 -18.6 2.2 Benign/Likely benign 0 -159312 Simple 587784104 - . Pathogenic 2 2 Beckwith-Wiedemann syndrome;Sotos syndrome 1 2016-12-25 9.6 3.0 Pathogenic/Likely pathogenic 1 -159313 Simple 138641637 C . Likely benign 2 4 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-06-16 -10.8 1.75 Benign/Likely benign 1 -159318 Simple 587784107 T . Pathogenic 2 2 Sotos syndrome 1;not provided 2017-04-25 9.6 2.5 Pathogenic/Likely pathogenic 1 -159324 Simple 587784112 - . Pathogenic 2 2 Sotos syndrome 1;not provided 2016-08-08 9.6 3.0 Pathogenic/Likely pathogenic 1 -159330 Simple 570278338 T . Pathogenic 2 2 Beckwith-Wiedemann syndrome;Sotos syndrome 1 2016-02-16 9.0 3.5 Pathogenic/Likely pathogenic 1 -159331 Simple 587784117 T . Pathogenic 2 2 Sotos syndrome 1;not provided 2015-09-13 9.0 3.5 Pathogenic/Likely pathogenic 1 -159335 Simple 144900277 T . Benign 2 3 Beckwith-Wiedemann syndrome;not specified 2017-05-15 -14.4 2.6666666666666665 Benign/Likely benign 1 -159337 Simple 201483724 A . Benign/Likely benign 2 4 Weaver syndrome;not specified;Sotos Syndrome 2016-06-26 -12.6 2.0 Benign/Likely benign 0 -159338 Simple 201483724 T . Uncertain significance 2 2 Sotos syndrome 1;not specified 2016-01-14 -0.45 3.5 Uncertain significance 0 -159373 Simple 587784152 - . Pathogenic 2 2 Sotos syndrome 1;not provided 2015-06-04 9.0 3.5 Pathogenic/Likely pathogenic 1 -159375 Simple 587784154 T . Pathogenic/Likely pathogenic 2 2 Sotos syndrome 1;not provided 2016-05-26 6.6 3.0 Likely pathogenic 1 -159390 Simple 587784169 A . Pathogenic 2 3 Beckwith-Wiedemann syndrome;Sotos syndrome 1;not provided 2017-02-27 15.6 2.3333333333333335 Pathogenic 0 -159392 Simple 587784171 C . Pathogenic/Likely pathogenic 2 2 Sotos syndrome 1;not provided 2016-06-20 6.6 3.0 Likely pathogenic 1 -159394 Simple 587784173 T . Pathogenic 2 2 Sotos syndrome 1;not provided 2016-05-24 9.6 3.0 Pathogenic/Likely pathogenic 1 -159395 Simple 587784174 A . Pathogenic 2 2 Sotos syndrome 1;not provided 2017-04-06 9.6 2.5 Pathogenic/Likely pathogenic 1 -159397 Simple 587784176 T . Pathogenic 2 2 Sotos syndrome 1 2014-07-15 8.4 4.0 Pathogenic/Likely pathogenic 1 -159398 Simple 587784177 A . Pathogenic/Likely pathogenic 2 4 Sotos syndrome 1;Scoliosis;Tall stature;Overgrowth;Pointed chin;not provided;Hypoplasia of the corpus callosum;Delayed speech and language development;Macrocephaly;Hypertelorism;High forehead;Osteopenia;Global developmental delay;Delayed gross motor development;Increased body weight;High anterior hairline;Preeclampsia 2016-03-04 13.5 3.5 Pathogenic/Likely pathogenic 0 -159400 Simple 587784179 T . Pathogenic 2 2 Sotos syndrome 1;not provided 2017-06-15 10.2 2.0 Pathogenic/Likely pathogenic 1 -159403 Simple 587784182 A . Uncertain significance 2 2 Sotos syndrome 1;not specified 2014-03-18 -0.42 4.0 Uncertain significance 0 -159412 Simple 587784190 T . Pathogenic 2 3 Beckwith-Wiedemann syndrome;Sotos syndrome 1;not provided 2017-02-21 15.6 2.3333333333333335 Pathogenic 0 -159419 Simple 587784197 - . Pathogenic 2 2 Sotos syndrome 1;not provided 2016-12-19 9.6 3.0 Pathogenic/Likely pathogenic 1 -159421 Simple 587784199 T . Pathogenic 2 2 Sotos syndrome 1;not provided 2015-08-12 9.0 3.5 Pathogenic/Likely pathogenic 1 -159428 Simple 587784206 - . Pathogenic/Likely pathogenic 2 2 Sotos syndrome 1;not provided 2016-07-14 6.6 3.0 Likely pathogenic 1 -159441 Simple 149334244 T . Benign/Likely benign 2 3 Beckwith-Wiedemann syndrome;not specified 2016-09-11 -12.6 3.0 Benign/Likely benign 0 -159443 Simple 143159630 T . Benign/Likely benign 2 5 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -20.400000000000002 2.2 Benign/Likely benign 0 -159448 Simple 142351862 T . Benign 2 2 not specified 2015-09-08 -9.600000000000001 3.0 Benign/Likely benign 1 -159450 Simple 5969919 G . Benign 2 2 not specified 2015-06-02 -9.0 3.5 Benign/Likely benign 1 -159451 Simple 35529894 G . Likely benign 2 2 not specified;not provided 2017-04-17 -5.1 2.0 Likely benign 0 -159462 Simple 147125035 G . Benign 2 2 not specified 2016-12-15 -11.4 1.5 Benign/Likely benign 1 -159463 Simple 5979959 A . Benign 2 2 Joubert syndrome;Oral-facial-digital syndrome;not specified 2017-05-16 -9.6 2.5 Benign/Likely benign 1 -159464 Simple 61746932 G . Benign 2 2 Joubert syndrome;Oral-facial-digital syndrome;not specified 2017-07-19 -12.0 0.5 Benign/Likely benign 1 -159466 Simple 200767363 G . Benign 2 3 Joubert syndrome;Oral-facial-digital syndrome;not specified 2017-08-02 -18.0 0.6666666666666666 Benign/Likely benign 1 -159468 Simple 61742891 T . Benign/Likely benign 2 1 Joubert syndrome;Oral-facial-digital syndrome;not specified 2017-07-03 . 0.0 . 0 -159470 Simple 183241931 A . Benign 2 2 Joubert syndrome;Oral-facial-digital syndrome;not specified 2015-11-26 -9.0 3.5 Benign/Likely benign 1 -159471 Simple 140369491 T . Benign 2 2 not specified 2016-03-31 -9.6 3.0 Benign/Likely benign 1 -159472 Simple 149647255 C . Benign 2 2 Joubert syndrome;Oral-facial-digital syndrome;not specified 2017-04-20 -10.8 1.5 Benign/Likely benign 1 -159473 Simple 139848884 C . Benign/Likely benign 2 2 Joubert syndrome;Oral-facial-digital syndrome;not specified 2017-06-30 -12.0 0.5 Benign/Likely benign 0 -159475 Simple 36095561 T . Benign/Likely benign 2 2 not specified;not provided 2017-05-03 -6.6 2.5 Likely benign 1 -159480 Simple 138108344 A . Benign 2 3 not specified;not provided 2016-09-15 -15.0 2.6666666666666665 Benign/Likely benign 1 -159483 Simple 2307394 C . Benign/Likely benign 2 1 not specified 2016-03-28 . 1.0 . 0 -159503 Simple 587784250 A . Likely pathogenic 2 2 Lissencephaly 1;not provided 2017-02-27 4.8 3.0 Likely pathogenic 0 -159512 Simple 587784258 T . Pathogenic 2 2 Lissencephaly 1;not provided 2017-01-26 9.6 3.0 Pathogenic/Likely pathogenic 1 -159522 Simple 587784267 T . Pathogenic 2 2 Lissencephaly 1;not provided 2016-02-22 9.0 3.5 Pathogenic/Likely pathogenic 1 -159541 Simple 2228614 T . Benign/Likely benign 2 2 not specified;Lissencephaly/Subcortical Band Heterotopia 2016-06-14 -6.6 3.0 Likely benign 1 -159563 Simple 80166001 G . Uncertain significance 2 2 Microcephalic osteodysplastic primordial dwarfism type 2;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -0.48 3.0 Uncertain significance 0 -159566 Simple 2249057 A . Benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159567 Simple 2249060 T . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -6.6 3.0 Likely benign 1 -159569 Simple 2839223 A . Benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159570 Simple 143870030 A . Uncertain significance 2 2 Microcephalic osteodysplastic primordial dwarfism type 2;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -0.51 2.5 Uncertain significance 0 -159572 Simple 8131546 C . Benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159574 Simple 2839226 T . Benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159575 Simple 2839227 G . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-22 -15.6 2.3333333333333335 Benign/Likely benign 1 -159579 Simple 2839228 G . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-22 -15.6 2.3333333333333335 Benign/Likely benign 1 -159580 Simple 587784302 - . Pathogenic 2 3 Microcephalic osteodysplastic primordial dwarfism type 2;not provided 2016-06-22 15.0 2.6666666666666665 Pathogenic 0 -159581 Simple 6518289 C . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-22 -15.6 2.3333333333333335 Benign/Likely benign 1 -159585 Simple 61735805 C . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -6.6 3.0 Likely benign 1 -159589 Simple 7279204 T . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-07-20 -13.2 2.0 Benign/Likely benign 0 -159590 Simple 35044802 A . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -7.2 2.5 Likely benign 1 -159591 Simple 138254119 T . Uncertain significance 2 2 Microcephalic osteodysplastic primordial dwarfism type 2;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -0.51 2.5 Uncertain significance 0 -159592 Simple 61735806 A . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -159597 Simple 3737438 T . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -159601 Simple 139432601 G . Likely benign 2 2 not specified 2016-01-11 -5.4 2.0 Likely benign 0 -159604 Simple 111737555 T . Uncertain significance 2 2 Microcephalic osteodysplastic primordial dwarfism type 2;not specified 2017-08-11 -0.54 1.5 Uncertain significance 0 -159605 Simple 35513449 G . Likely benign 2 3 not specified 2016-04-26 -8.4 1.6666666666666667 Benign/Likely benign 1 -159606 Simple 116431741 A . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -159608 Simple 61735825 G . Benign/Likely benign 2 5 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -24.0 2.0 Benign 1 -159609 Simple 587784306 . . Likely benign 2 2 not specified 2017-06-09 -5.1 2.0 Likely benign 0 -159613 Simple 6518291 G . Benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159614 Simple 114474454 A . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -159624 Simple 61735810 A . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -6.6 3.0 Likely benign 1 -159626 Simple 34813667 A . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -6.6 3.0 Likely benign 1 -159629 Simple 10222116 C . Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -5.1 2.5 Likely benign 0 -159634 Simple 34151633 C . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -6.6 3.0 Likely benign 1 -159636 Simple 150756913 A . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -159637 Simple 9981448 G . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -6.6 3.0 Likely benign 1 -159642 Simple 2070425 T . Benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159643 Simple 61738290 C . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -6.6 3.0 Likely benign 1 -159645 Simple 59957960 TCTGA . Benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -159646 Simple 61735813 G . Benign/Likely benign 2 2 not specified 2016-05-01 -6.6 3.0 Likely benign 1 -159650 Simple 75024419 A . Benign/Likely benign 2 2 not specified;not provided 2017-01-13 -6.6 3.0 Likely benign 1 -159653 Simple 2839217 A . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -159657 Simple 77075366 C . Benign/Likely benign 2 3 not specified;not provided;Microcephalic Osteodysplastic Primordial Dwarfism 2017-01-13 -9.6 2.3333333333333335 Benign/Likely benign 0 -159665 Simple 61735821 T . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -159670 Simple 2070426 C . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -159671 Simple 2073376 G . Benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -159672 Simple 142608069 T . Uncertain significance 2 2 Microcephalic osteodysplastic primordial dwarfism type 2;not specified 2015-04-14 -0.51 2.5 Uncertain significance 0 -159673 Simple 9983522 A . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -159675 Simple 35147998 A . Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -5.1 2.5 Likely benign 0 -159680 Simple 572222540 A . Benign/Likely benign 2 2 not specified 2015-10-09 -7.5 3.0 Likely benign 1 -159687 Simple 79359463 A . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -159690 Simple 200348425 T . Benign/Likely benign 2 4 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -16.5 1.75 Benign/Likely benign 0 -159692 Simple 2839260 C . Benign/Likely benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -6.6 3.0 Likely benign 1 -159694 Simple 75758339 T . Likely benign 2 2 not specified 2017-10-10 -5.7 1.0 Likely benign 0 -159697 Simple 2073380 C . Benign 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159708 Simple 148238492 A . Uncertain significance 2 2 Zunich neuroectodermal syndrome;Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome 2016-06-14 -0.48 3.0 Uncertain significance 0 -159712 Simple 138410893 A . Uncertain significance 2 2 Zunich neuroectodermal syndrome;Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome 2016-06-14 -0.54 2.0 Uncertain significance 0 -159721 Simple 3729981 C . Benign/Likely benign 2 2 SHORT syndrome;not specified;Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 2017-08-07 -8.1 2.0 Likely benign 1 -159722 Simple 706713 T . Benign/Likely benign 2 3 not specified 2016-05-13 -14.1 2.0 Benign/Likely benign 0 -159723 Simple 706714 C . Benign/Likely benign 2 2 not specified 2016-03-29 -8.1 2.5 Likely benign 1 -159724 Simple 61749601 C . Benign/Likely benign 2 4 SHORT syndrome;not specified;Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 2017-07-31 -20.1 1.5 Benign/Likely benign 0 -159725 Simple 11570680 T . Benign/Likely benign 2 3 Infantile neuroaxonal dystrophy;not specified 2017-04-19 -12.6 2.0 Benign/Likely benign 0 -159727 Simple 2413502 A . Benign/Likely benign 2 2 Infantile neuroaxonal dystrophy;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -159728 Simple 587784327 T . Pathogenic/Likely pathogenic 2 2 Infantile neuroaxonal dystrophy;Iron accumulation in brain 2014-07-15 6.6 4.0 Likely pathogenic 1 -159739 Simple 535486098 T . Pathogenic/Likely pathogenic 2 2 not provided;Iron accumulation in brain 2015-05-21 7.2 3.5 Likely pathogenic 1 -159744 Simple 200599704 T . Uncertain significance 2 2 Infantile neuroaxonal dystrophy;Iron accumulation in brain 2016-06-14 -0.48 3.0 Uncertain significance 0 -159746 Simple 11570739 A . Benign/Likely benign 2 2 Infantile neuroaxonal dystrophy;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -159748 Simple 149712244 T . Pathogenic/Likely pathogenic 2 3 Neurodegeneration with brain iron accumulation 2b;not provided;Iron accumulation in brain 2017-11-15 12.6 2.0 Pathogenic/Likely pathogenic 0 -159749 Simple 587784339 A . Pathogenic 2 2 not provided;Iron accumulation in brain 2017-03-30 9.6 2.5 Pathogenic/Likely pathogenic 1 -159754 Simple 141777179 T . Uncertain significance 2 2 not provided;Iron accumulation in brain 2017-05-31 -0.48 2.5 Uncertain significance 0 -159761 Simple 587784349 G . Pathogenic 2 2 not provided;Iron accumulation in brain 2016-08-09 9.6 3.0 Pathogenic/Likely pathogenic 1 -159763 Simple 587784351 G . Likely pathogenic 2 2 not provided;Iron accumulation in brain 2015-04-10 4.5 3.5 Likely pathogenic 0 -159765 Simple 138683183 A . Benign/Likely benign 2 2 Infantile neuroaxonal dystrophy;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -159775 Simple 587784359 A . Pathogenic/Likely pathogenic 2 2 not provided;Iron accumulation in brain 2015-08-10 7.2 3.5 Likely pathogenic 1 -159781 Simple 2267369 T . Benign/Likely benign 2 3 Infantile neuroaxonal dystrophy;not specified 2017-07-10 -13.2 1.6666666666666667 Benign/Likely benign 0 -159782 Simple 11570679 T . Benign/Likely benign 2 2 Infantile neuroaxonal dystrophy;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -159783 Simple 147755372 T . Uncertain significance 2 3 Infantile neuroaxonal dystrophy;not provided;Iron accumulation in brain 2017-03-31 -0.78 2.0 Uncertain significance 0 -159788 Simple 587784366 - . Pathogenic 2 2 Early infantile epileptic encephalopathy 10;not provided 2014-06-05 9.0 3.5 Pathogenic/Likely pathogenic 1 -159789 Simple 377688490 C . Uncertain significance 2 3 Early infantile epileptic encephalopathy 10;Early infantile epileptic encephalopathy 12;Epileptic encephalopathy 2016-09-22 -0.84 1.6666666666666667 Uncertain significance 0 -159792 Simple 3739173 A . Uncertain significance 2 4 Early infantile epileptic encephalopathy 10;Early infantile epileptic encephalopathy 12;not specified 2017-07-13 -1.1099999999999999 1.25 Uncertain significance 0 -159793 Simple 587784367 A . Uncertain significance 2 2 Early infantile epileptic encephalopathy 10;not specified 2015-02-17 -0.44999999999999996 3.5 Uncertain significance 0 -159799 Simple 199705876 T . Uncertain significance 2 3 Early infantile epileptic encephalopathy 10;Early infantile epileptic encephalopathy 12;not specified 2016-09-15 -0.8099999999999999 2.0 Uncertain significance 0 -159802 Simple 75203375 G . Uncertain significance 2 2 Early infantile epileptic encephalopathy 10;not specified 2015-11-20 -0.45 3.5 Uncertain significance 0 -159804 Simple 373922574 A . Uncertain significance 2 3 Early infantile epileptic encephalopathy 10;Early infantile epileptic encephalopathy 12;not specified 2016-06-01 -0.72 3.0 Uncertain significance 0 -159805 Simple 1050838 G . Benign 2 1 not specified 2013-08-15 . 4.0 . 0 -159808 Simple 2921787 T . Benign 2 2 not specified 2016-09-02 -9.6 3.0 Benign/Likely benign 1 -159810 Simple 55983376 C . Benign 2 4 Robinow syndrome;Brachydactyly;not specified;not provided 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -159811 Simple 41277837 T . Benign/Likely benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -159814 Simple 34431454 T . Benign 2 4 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -159815 Simple 10992063 A . Benign 2 4 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -159816 Simple 2230577 A . Benign 2 4 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -159818 Simple 10761129 T . Benign/Likely benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 0 -159820 Simple 16907720 G . Benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -159821 Simple 10820900 C . Benign/Likely benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 0 -159823 Simple 7863557 G . Benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -159826 Simple 143752962 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-07-24 -28.2 1.2857142857142858 Benign 1 -159829 Simple 78350770 G . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-18 -32.4 1.625 Benign 1 -159831 Simple 61729397 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-17 -27.6 1.4285714285714286 Benign 1 -159832 Simple 73933018 G . Benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -33.6 1.6666666666666667 Benign 0 -159833 Simple 75797287 T . Benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -33.6 1.6666666666666667 Benign 0 -159834 Simple 587784372 T . Uncertain significance 2 4 not specified;not provided;RYR1-Related Disorders 2017-06-26 -1.08 1.5 Uncertain significance 0 -159835 Simple 10405232 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-07 -26.4 1.7142857142857142 Benign 1 -159836 Simple 146072491 T . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-18 -32.4 1.125 Benign 1 -159838 Simple 61586345 G . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-17 -27.6 1.4285714285714286 Benign 1 -159844 Simple 587784374 CC . Pathogenic/Likely pathogenic 2 2 not provided 2017-07-12 8.4 1.5 Pathogenic/Likely pathogenic 0 -159845 Simple 143750836 A . Benign/Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-06-27 -18.0 0.8 Benign/Likely benign 0 -159846 Simple 112105381 G . Benign/Likely benign 2 2 Malignant hyperthermia, susceptibility to, 1;Malignant hyperthermia susceptibility;not specified;RYR1-Related Disorders 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -159853 Simple 35021937 G . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-18 -32.4 1.625 Benign 1 -159855 Simple 587784378 A . Uncertain significance 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not provided;RYR1-Related Disorders 2017-04-11 -1.71 1.3333333333333333 Uncertain significance 0 -159857 Simple 77310009 T . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-22 -28.8 1.1428571428571428 Benign 1 -159860 Simple 57376136 T . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2017-03-03 -18.6 1.6666666666666667 Benign/Likely benign 0 -159862 Simple 76854339 C . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-06-27 -27.6 1.4285714285714286 Benign 1 -159863 Simple 145943283 T . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-17 -24.0 0.8333333333333334 Benign 1 -159866 Simple 142610625 T . Benign/Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-07-10 -18.0 0.8 Benign/Likely benign 0 -159867 Simple 8091231 T . Benign/Likely benign 2 2 Schinzel-Giedion syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -159872 Simple 3744825 A . Benign 2 2 Schinzel-Giedion syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159873 Simple 1064204 A . Benign 2 2 Schinzel-Giedion syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159875 Simple 8096662 G . Benign 2 2 Schinzel-Giedion syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159877 Simple 3786177 A . Benign 2 2 Schinzel-Giedion syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159878 Simple 77518617 C . Benign/Likely benign 2 2 Schinzel-Giedion syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -159880 Simple 117498128 T . Likely benign 2 2 Schinzel-Giedion syndrome 2016-06-14 -4.8 3.0 Likely benign 0 -159882 Simple 201973930 A . Benign/Likely benign 2 3 Schinzel-Giedion syndrome;not specified;not provided 2016-11-28 -12.6 2.3333333333333335 Benign/Likely benign 0 -159885 Simple 11082414 C . Benign 2 2 Schinzel-Giedion syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159889 Simple 74010036 A . Benign/Likely benign 2 2 Andermann syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -159895 Simple 11854257 G . Benign/Likely benign 2 2 Andermann syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -159896 Simple 4577050 A . Benign 2 2 Andermann syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159898 Simple 7164902 A . Benign 2 2 Andermann syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159899 Simple 34491959 A . Uncertain significance 2 2 Andermann syndrome 2016-06-14 -0.48 3.0 Uncertain significance 0 -159901 Simple 587784383 A . Likely pathogenic 2 2 Allan-Herndon-Dudley syndrome;Decreased activity of the pyruvate dehydrogenase complex 2015-05-14 4.5 3.5 Likely pathogenic 0 -159902 Simple 587784384 T . Pathogenic/Likely pathogenic 2 2 Allan-Herndon-Dudley syndrome;not provided 2014-05-19 6.6 4.0 Likely pathogenic 1 -159908 Simple 2070255 G . Benign/Likely benign 2 2 not specified 2015-12-04 -7.5 3.0 Likely benign 1 -159911 Simple 150242281 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy 2017-10-27 -15.0 2.25 Benign/Likely benign 0 -159913 Simple 80335370 A . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -159915 Simple 113091974 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2017-08-10 -12.6 2.0 Benign/Likely benign 0 -159917 Simple 77117049 A . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2017-08-10 -17.4 2.25 Benign/Likely benign 0 -159926 Simple 587784394 A . Uncertain significance 2 3 GLUT1 deficiency syndrome 1;Dystonia;Glucose transporter type 1 deficiency syndrome 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -159928 Simple 587784396 A . Pathogenic 2 2 GLUT1 deficiency syndrome 1;not provided 2014-01-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -159929 Simple 5811 G . Likely benign 2 2 not specified 2017-03-13 -5.1 2.0 Likely benign 0 -159930 Simple 587784397 A . Pathogenic 2 2 GLUT1 deficiency syndrome 1 2014-09-17 8.4 4.0 Pathogenic/Likely pathogenic 1 -159933 Simple 201523857 T . Benign/Likely benign 2 5 Christianson syndrome;not specified;not provided 2017-07-20 -29.4 1.0 Benign 1 -159937 Simple 112727682 A . Benign/Likely benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -6.6 3.0 Likely benign 1 -159956 Simple 587784418 C . Pathogenic/Likely pathogenic 2 2 Congenital muscular hypertrophy-cerebral syndrome 2017-08-08 6.6 2.5 Likely pathogenic 1 -159957 Simple 142611198 A . Benign/Likely benign 2 3 not specified;Cornelia de Lange Syndrome 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -159965 Simple 79912955 G . Benign/Likely benign 2 4 Cornelia de Lange syndrome 3;not specified;not provided;Cornelia de Lange Syndrome 2017-06-23 -15.6 1.5 Benign/Likely benign 0 -159967 Simple 75323904 C . Benign/Likely benign 2 3 Cornelia de Lange syndrome 3;not specified;Cornelia de Lange Syndrome 2016-12-08 -12.6 2.3333333333333335 Benign/Likely benign 0 -159971 Simple 147404470 C . Benign/Likely benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -7.8 2.0 Likely benign 1 -159981 Simple 201281088 A . Likely benign 2 2 not specified;not provided 2017-01-24 -5.4 2.0 Likely benign 0 -159985 Simple 2419565 G . Benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -159986 Simple 78663177 C . Benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -159989 Simple 199906378 TTTT . Benign/Likely benign 2 4 Cornelia de Lange syndrome 3;not specified;Cornelia de Lange Syndrome 2016-12-08 -17.4 2.5 Benign/Likely benign 0 -159991 Simple 587784430 TT . Benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -159992 Simple 11195199 A . Benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -159993 Simple 144787939 G . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-11-02 -14.7 0.75 Benign/Likely benign 0 -160009 Simple 2227864 T . Benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -160010 Simple 945831 C . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-10 -12.6 2.0 Benign/Likely benign 0 -160017 Simple 3750333 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-08-12 -12.6 2.0 Benign/Likely benign 0 -160024 Simple 587784438 - . Pathogenic 2 2 Early infantile epileptic encephalopathy 5;not provided 2016-03-27 9.6 3.0 Pathogenic/Likely pathogenic 1 -160028 Simple 587784440 ACCAGCTGGACCAGCTGG . Pathogenic 2 2 Early infantile epileptic encephalopathy 5;not provided 2016-12-06 9.6 3.0 Pathogenic/Likely pathogenic 1 -160029 Simple 140241053 C . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-28 -19.2 1.5 Benign/Likely benign 0 -160031 Simple 587784442 T . Benign/Likely benign 2 2 not specified 2015-01-07 -6.9 3.5 Likely benign 1 -160033 Simple 79656879 G . Benign 2 2 Floating-Harbor syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -160034 Simple 79597785 G . Benign/Likely benign 2 2 Floating-Harbor syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -160035 Simple 117804715 G . Benign/Likely benign 2 4 Floating-Harbor syndrome;not specified;not provided 2017-09-27 -13.8 1.25 Benign/Likely benign 0 -160037 Simple 74947321 A . Benign/Likely benign 2 2 Floating-Harbor syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -160039 Simple 149217909 T . Likely benign 2 2 Floating-Harbor syndrome;not specified 2016-06-14 -5.4 2.0 Likely benign 0 -160047 Simple 188900275 G . Likely benign 2 2 not specified 2016-04-15 -5.7 1.5 Likely benign 0 -160049 Simple 149185431 A . Uncertain significance 2 3 Primary autosomal recessive microcephaly 7;not specified 2017-05-23 -0.75 2.3333333333333335 Uncertain significance 0 -160051 Simple 10789505 C . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -160053 Simple 140448154 C . Benign/Likely benign 2 3 not specified;not provided 2015-10-27 -11.700000000000001 3.0 Benign/Likely benign 0 -160065 Simple 112563569 T . Benign/Likely benign 2 2 not specified 2017-07-20 -6.6 2.5 Likely benign 1 -160068 Simple 141352790 C . Uncertain significance 2 3 Primary autosomal recessive microcephaly 7;not specified;Primary Microcephaly, Recessive 2017-02-20 -0.78 2.3333333333333335 Uncertain significance 0 -160072 Simple 534556046 C . Benign/Likely benign 2 3 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-07-01 -14.4 1.3333333333333333 Benign/Likely benign 0 -160085 Simple 587784464 A . Pathogenic 2 2 Pitt-Hopkins syndrome;not provided 2017-02-26 9.6 3.0 Pathogenic/Likely pathogenic 1 -160091 Simple 147445499 A . Benign/Likely benign 2 6 Pitt-Hopkins syndrome;not specified;not provided 2017-05-31 -26.4 1.8333333333333333 Benign 1 -160092 Simple 587784469 T . Pathogenic/Likely pathogenic 2 3 Pitt-Hopkins syndrome;not provided 2017-08-01 11.1 1.3333333333333333 Pathogenic/Likely pathogenic 0 -160095 Simple 118096349 T . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-08-01 -15.0 0.6666666666666666 Benign/Likely benign 0 -160096 Simple 76843552 C . Benign/Likely benign 2 2 Joubert syndrome;not specified;not provided 2017-08-23 -6.0 0.5 Likely benign 1 -160098 Simple 12307716 A . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -160099 Simple 16940927 T . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-04-20 -15.0 0.6666666666666666 Benign/Likely benign 0 -160102 Simple 77258715 G . Benign 2 2 not specified 2016-04-06 -9.6 3.0 Benign/Likely benign 1 -160107 Simple 116627250 A . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -160111 Simple 202097247 T . Uncertain significance 2 2 Pontocerebellar hypoplasia type 2B;Pontoneocerebellar hypoplasia 2016-06-14 -0.54 2.0 Uncertain significance 0 -160112 Simple 142211875 C . Benign/Likely benign 2 2 Pontoneocerebellar hypoplasia;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -160122 Simple 7595 T . Benign 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -160123 Simple 9911502 C . Benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -160124 Simple 200434678 A . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;Olivopontocerebellar hypoplasia 2016-06-14 -0.54 2.0 Uncertain significance 0 -160127 Simple 8064529 T . Benign 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -160128 Simple 150169668 G . Benign/Likely benign 2 3 not specified;not provided 2016-01-20 -11.700000000000001 3.0 Benign/Likely benign 0 -160130 Simple 144662042 T . Benign/Likely benign 2 3 Pontoneocerebellar hypoplasia;not specified 2016-08-30 -12.6 2.3333333333333335 Benign/Likely benign 0 -160134 Simple 11559205 C . Benign/Likely benign 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -160141 Simple 11829764 T . Benign/Likely benign 2 4 not specified;Lissencephaly, Dominant 2016-06-14 -18.0 2.25 Benign/Likely benign 0 -160146 Simple 587784483 A . Pathogenic 2 2 Lissencephaly 3;not provided 2017-05-15 10.2 2.0 Pathogenic/Likely pathogenic 1 -160152 Simple 199717430 A . Benign/Likely benign 2 2 not specified;Lissencephaly, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -160154 Simple 1056875 C . Benign 2 3 not specified;Lissencephaly, Dominant 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -160155 Simple 1143560 A . Benign/Likely benign 2 3 not specified;Lissencephaly, Dominant 2016-06-14 -9.3 2.6666666666666665 Benign/Likely benign 0 -160157 Simple 697624 G . Benign 2 2 not specified;Lissencephaly, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -160161 Simple 587784491 T . Pathogenic/Likely pathogenic 2 3 Lissencephaly 3;not provided;Inborn genetic diseases 2015-10-03 9.0 3.3333333333333335 Pathogenic/Likely pathogenic 0 -160165 Simple 142641191 A . Benign/Likely benign 2 3 not specified;Lissencephaly, Dominant 2017-11-08 -12.0 0.6666666666666666 Benign/Likely benign 0 -160171 Simple 115847686 T . Benign/Likely benign 2 4 not specified;not provided 2017-03-13 -14.7 1.0 Benign/Likely benign 0 -160173 Simple 2234331 T . Benign 2 2 not specified 2017-03-02 -10.2 2.5 Benign/Likely benign 1 -160175 Simple 140202346 T . Uncertain significance 2 2 Polymicrogyria with optic nerve hypoplasia;not specified 2016-05-05 -0.48 3.0 Uncertain significance 0 -160180 Simple 141251993 A . Benign/Likely benign 2 3 not specified 2017-05-22 -10.5 2.0 Benign/Likely benign 0 -160194 Simple 61743676 T . Likely benign 2 2 not specified 2015-12-04 -4.800000000000001 3.0 Likely benign 0 -160200 Simple 587784510 A . Uncertain significance 2 2 Angelman syndrome;not specified 2015-10-30 -0.48 3.0 Uncertain significance 0 -160220 Simple 587784527 - . Pathogenic 2 2 Angelman syndrome;not provided 2017-08-08 9.6 2.5 Pathogenic/Likely pathogenic 1 -160221 Simple 587784528 T . Uncertain significance 2 2 Angelman syndrome;not specified 2014-01-15 -0.39 4.5 Uncertain significance 0 -160223 Simple 587784529 - . Pathogenic 2 2 Angelman syndrome;not provided 2016-10-18 10.2 2.5 Pathogenic/Likely pathogenic 1 -160243 Simple 587784541 G . Uncertain significance 2 2 Primary autosomal recessive microcephaly 2;not specified 2016-05-16 -0.54 2.0 Uncertain significance 0 -160244 Simple 146180912 G . Likely benign 2 3 not specified;not provided 2016-12-02 -8.4 1.6666666666666667 Benign/Likely benign 1 -160245 Simple 76130844 T . Benign/Likely benign 2 2 not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2016-06-14 -6.6 3.0 Likely benign 1 -160248 Simple 45567532 T . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-09 -12.6 2.0 Benign/Likely benign 0 -160252 Simple 2301734 A . Benign/Likely benign 2 4 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-09 -18.6 1.75 Benign/Likely benign 0 -160253 Simple 4806263 T . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-09 -12.6 2.0 Benign/Likely benign 0 -160258 Simple 61742664 A . Benign/Likely benign 2 4 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-05 -17.4 2.25 Benign/Likely benign 0 -160263 Simple 61494900 A . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-05 -12.6 2.0 Benign/Likely benign 0 -160264 Simple 61747277 G . Benign 2 2 not specified 2016-04-12 -9.6 3.0 Benign/Likely benign 1 -160266 Simple 138928852 A . Benign/Likely benign 2 3 not specified 2017-02-20 -11.4 1.3333333333333333 Benign/Likely benign 0 -160267 Simple 587784547 T . Uncertain significance 2 2 Primary autosomal recessive microcephaly 2;Primary Microcephaly 2 With or Without Cortical Malformations 2016-06-14 -0.51 2.5 Uncertain significance 0 -160269 Simple 2285745 C . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-05 -12.6 2.0 Benign/Likely benign 0 -160276 Simple 74518295 T . Benign/Likely benign 2 4 not specified 2017-07-20 -19.2 1.5 Benign/Likely benign 0 -160278 Simple 118175551 A . Benign/Likely benign 2 2 not specified 2017-04-25 -11.4 1.0 Benign/Likely benign 0 -160285 Simple 61741470 G . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-05 -12.6 2.0 Benign/Likely benign 0 -160287 Simple 17851502 T . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-05 -12.6 2.0 Benign/Likely benign 0 -160294 Simple 45470992 T . Benign/Likely benign 2 3 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-05 -12.6 2.0 Benign/Likely benign 0 -160301 Simple 1008328 C . Benign 2 4 Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-06-05 -19.8 2.5 Benign/Likely benign 1 -160305 Simple 78138007 T . Benign/Likely benign 2 2 not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2016-06-14 -6.6 3.0 Likely benign 1 -160315 Simple 147104982 A . Benign 2 2 Robinow syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -160317 Simple 143854197 A . Benign/Likely benign 2 3 Mowat-Wilson syndrome;not specified 2017-07-26 -15.0 0.6666666666666666 Benign/Likely benign 0 -160322 Simple 587784565 - . Pathogenic 2 2 Mowat-Wilson syndrome;not provided 2017-09-28 9.6 2.5 Pathogenic/Likely pathogenic 1 -160323 Simple 587784566 A . Pathogenic 2 4 Mowat-Wilson syndrome;not provided 2017-10-24 19.8 2.5 Pathogenic 0 -160329 Simple 587784571 A . Pathogenic 2 2 Mowat-Wilson syndrome;not provided 2017-06-15 9.6 2.5 Pathogenic/Likely pathogenic 1 -160332 Simple 149882004 G . Benign 2 3 Mowat-Wilson syndrome;not specified 2017-03-15 -18.0 0.6666666666666666 Benign/Likely benign 1 -160781 Simple . . . Uncertain significance 2 2 See cases 2011-08-12 -0.3 6.0 Uncertain significance 0 -160792 Simple . . . Pathogenic 2 3 See cases 2011-08-12 9.0 6.0 Pathogenic/Likely pathogenic 1 -160798 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160803 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160810 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160822 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160842 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160843 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160844 Simple . . . Uncertain significance 2 2 See cases 2011-08-12 -0.3 6.0 Uncertain significance 0 -160849 Simple . . . Pathogenic 2 3 See cases 2011-08-12 9.0 6.0 Pathogenic/Likely pathogenic 1 -160862 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160874 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160879 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160885 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160886 Simple . . . Pathogenic 2 3 See cases 2011-08-12 9.0 6.0 Pathogenic/Likely pathogenic 1 -160889 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160891 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160897 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160898 Simple . . . Pathogenic 2 3 See cases 2011-08-12 9.0 6.0 Pathogenic/Likely pathogenic 1 -160908 Simple . . . Uncertain significance 2 2 See cases 2011-08-12 -0.3 6.0 Uncertain significance 0 -160912 Simple . . . Benign 2 2 See cases 2011-08-12 -6.0 6.0 Likely benign 2 -160922 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160923 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160926 Simple . . . Pathogenic 2 3 See cases 2011-08-12 9.0 6.0 Pathogenic/Likely pathogenic 1 -160927 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160929 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160930 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160931 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160934 Simple . . . Uncertain significance 2 2 See cases 2011-08-12 -0.3 6.0 Uncertain significance 0 -160935 Simple . . . Uncertain significance 2 2 See cases 2011-08-12 -0.3 6.0 Uncertain significance 0 -160937 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -160942 Simple . . . Pathogenic 2 2 See cases 2011-08-12 6.0 6.0 Likely pathogenic 2 -161096 Simple 756457861 T . Pathogenic 2 2 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection 2016-11-08 10.2 2.5 Pathogenic/Likely pathogenic 1 -161134 Simple 606231435 T . Pathogenic/Likely pathogenic 2 3 Dystonia 12;Alternating hemiplegia of childhood 2;not provided 2017-09-08 15.0 0.3333333333333333 Pathogenic 1 -161188 Simple 1805177 TTTTTTTTT . Benign/Likely benign 2 4 Cystic fibrosis;not specified;not provided 2017-08-16 -15.6 1.75 Benign/Likely benign 0 -161192 Simple 606231451 A . Pathogenic/Likely pathogenic 2 2 Spinocerebellar ataxia 21;not provided 2017-06-08 8.4 1.0 Pathogenic/Likely pathogenic 0 -161215 Simple 112185887 A . Benign/Likely benign 2 7 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified;not provided 2017-07-18 -26.4 0.5714285714285714 Benign 1 -161219 Simple 151244052 T . Benign/Likely benign 2 4 Duchenne muscular dystrophy;Muscular dystrophy;not specified;Cardiovascular phenotype 2017-04-25 -14.7 1.0 Benign/Likely benign 0 -161223 Simple 143413607 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy 2016-05-22 -0.5700000000000001 1.5 Uncertain significance 0 -161224 Simple 201564919 A . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular cardiomyopathy;not specified 2017-06-28 -0.84 1.0 Uncertain significance 0 -161227 Simple 34738426 T . Uncertain significance 2 4 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy;not specified 2016-10-01 -1.05 2.25 Uncertain significance 0 -161229 Simple 148002300 A . Likely benign 2 5 Osler hemorrhagic telangiectasia syndrome;not specified;Haemorrhagic telangiectasia 1;Juvenile Polyposis 2017-07-26 -15.0 0.8 Benign/Likely benign 1 -161239 Simple 144189837 C . Uncertain significance 2 2 Marfan syndrome;not specified 2017-03-30 -0.6 0.5 Uncertain significance 0 -161243 Simple 139058991 T . Uncertain significance 2 2 Marfan syndrome;not specified 2016-04-25 -0.54 2.0 Uncertain significance 0 -161245 Simple 201309310 C . Uncertain significance 2 4 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-02-09 -1.14 1.5 Uncertain significance 0 -161265 Simple 374045590 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;Hypercholesterolaemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -161266 Simple 144172724 A . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia;not provided;Hypercholesterolaemia 2017-09-07 29.4 0.8571428571428571 Pathogenic 1 -161269 Simple 377271627 G . Pathogenic 2 3 Familial hypercholesterolemia;Hypercholesterolaemia 2017-05-06 17.4 1.0 Pathogenic 0 -161270 Simple 370777955 G . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia;Hypercholesterolaemia 2016-03-25 . 1.0 . 0 -161271 Simple 137929307 A . Pathogenic/Likely pathogenic 2 10 Familial hypercholesterolemia;not provided;Hypercholesterolaemia 2017-05-15 40.5 1.1 Pathogenic 1 -161295 Simple 199706698 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;not specified;Hyperparathyroidism 2017-06-09 -0.6 0.5 Uncertain significance 0 -161299 Simple 374840361 A . Uncertain significance 2 4 Ovarian cancer;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-24 -1.17 0.75 Uncertain significance 0 -161300 Simple 2229061 G . Uncertain significance 2 5 Lynch syndrome I;Ovarian cancer;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-21 -1.5 0.8 Uncertain significance 0 -161309 Simple 369790992 T . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-06-21 -0.6 0.5 Uncertain significance 0 -161310 Simple 200119454 T . Uncertain significance 2 7 Primary dilated cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-09-18 -1.92 1.5714285714285714 Uncertain significance 0 -161312 Simple 376461745 T . Uncertain significance 2 6 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-05-23 -1.77 1.0 Uncertain significance 0 -161315 Simple 373730381 T . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-03-03 -0.6 1.0 Uncertain significance 0 -161325 Simple 367546859 T . Uncertain significance 2 4 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-07-31 -1.08 1.5 Uncertain significance 0 -161326 Simple 138049878 A . Likely pathogenic 3 4 Primary familial hypertrophic cardiomyopathy;not specified;not provided 2016-12-15 8.16 2.0 Likely pathogenic 0 -161359 Simple 149513065 C . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hirschsprung disease;Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -161369 Simple 147320363 G . Uncertain significance 2 5 Malignant hyperthermia, susceptibility to, 1;not specified;Myopathy, RYR1-associated;RYR1-Related Disorders 2017-06-29 -1.3199999999999998 1.8 Uncertain significance 0 -161381 Simple 149514924 A . Uncertain significance 2 4 Catecholaminergic polymorphic ventricular tachycardia type 1;not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-08-17 -1.17 0.75 Uncertain significance 0 -161387 Simple 142139022 T . Uncertain significance 2 2 Gastrointestinal stromal tumor;Pheochromocytoma;Paragangliomas 3;Hereditary cancer-predisposing syndrome 2017-04-12 -0.6 0.5 Uncertain significance 0 -161388 Simple 149516118 T . Uncertain significance 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.0 Uncertain significance 0 -161393 Simple 141259922 G . Uncertain significance 2 4 Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-30 -1.1400000000000001 1.25 Uncertain significance 0 -161395 Simple 148665451 A . Uncertain significance 2 2 Loeys-Dietz syndrome 1;not specified 2014-08-19 -0.48 3.0 Uncertain significance 0 -161402 Simple 373068386 A . Uncertain significance 2 4 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -1.1099999999999999 1.25 Uncertain significance 0 -161640 Simple 193921012 G . Uncertain significance 2 2 Malignant tumor of prostate;Hereditary cancer-predisposing syndrome 2017-05-22 -0.6 0.5 Uncertain significance 0 -162016 Simple 540331226 TT . Pathogenic 2 3 Spinocerebellar ataxia, autosomal recessive 10;not provided 2016-11-30 17.4 1.3333333333333333 Pathogenic 0 -162060 Simple 672601370 A . Pathogenic/Likely pathogenic 2 3 Mental retardation, autosomal dominant 9;not provided 2017-02-23 17.4 1.3333333333333333 Pathogenic 1 -162090 Simple 864309483 A . Pathogenic 2 2 Dyskinesia, familial, with facial myokymia;not provided 2017-07-12 11.4 1.0 Pathogenic/Likely pathogenic 1 -162101 Simple 690016538 AA . Pathogenic 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -162102 Simple 690016539 T . Pathogenic 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -162103 Simple 690016540 TT . Pathogenic 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -162105 Simple 690016542 - . Pathogenic 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -162153 Simple 724159949 T . Pathogenic 2 3 Mental retardation, autosomal dominant 7;Feeding difficulties;Deeply set eye;not provided;Microcephaly;Intellectual disability;Absent or delayed speech development 2017-11-29 15.6 2.0 Pathogenic 0 -162158 Simple 724159953 T . Pathogenic 2 2 Mental retardation, autosomal dominant 7;Seizures;Feeding difficulties;Deeply set eye;not provided;Microcephaly;Intellectual disability;Absent or delayed speech development 2016-11-17 10.8 2.0 Pathogenic/Likely pathogenic 1 -162194 Simple 372000714 A . Pathogenic 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Charcot-Marie-Tooth disease;not provided;Charcot-Marie-Tooth disease, axonal, type 2S 2017-10-05 12.0 0.0 Pathogenic/Likely pathogenic 1 -162195 Simple 724159994 - . Pathogenic 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Charcot-Marie-Tooth disease;not provided;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-29 12.0 0.5 Pathogenic/Likely pathogenic 1 -162382 Simple 724159971 A . Pathogenic 2 2 Ceroid lipofuscinosis neuronal 7;not provided 2017-01-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -162497 Simple 373286166 T . Pathogenic/Likely pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;not provided 2017-10-20 22.8 1.25 Pathogenic 1 -162498 Simple 373842615 C . Pathogenic 2 2 not specified;not provided;Haemorrhagic telangiectasia 1 2017-03-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -162499 Simple 139617694 A . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia;Hypercholesterolaemia 2017-04-12 31.8 1.0 Pathogenic 1 -162502 Simple 138608489 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 9.0 2.0 Pathogenic/Likely pathogenic 1 -162504 Simple 145476705 T . Pathogenic/Likely pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;not provided 2016-08-24 13.2 2.3333333333333335 Pathogenic/Likely pathogenic 0 -162506 Simple 368765949 T . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 4;not provided;Hypertrophic cardiomyopathy 2017-01-26 13.8 2.0 Pathogenic/Likely pathogenic 0 -162508 Simple 373885654 T . Pathogenic/Likely pathogenic 2 2 Lynch syndrome;not provided 2017-03-20 8.4 1.5 Pathogenic/Likely pathogenic 0 -162510 Simple 368869806 T . Likely pathogenic 2 2 Gorlin syndrome 2017-05-26 5.4 1.5 Likely pathogenic 0 -162537 Simple 138948335 A . Uncertain significance 2 3 not specified;not provided 2017-02-28 -0.87 1.3333333333333333 Uncertain significance 0 -162538 Simple 144830948 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-07-20 -20.4 0.8 Benign/Likely benign 0 -162539 Simple 368160013 A . Uncertain significance 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -162548 Simple 114322958 T . Benign/Likely benign 2 3 Collagen VI-related myopathy;not specified 2016-08-22 -10.8 1.6666666666666667 Benign/Likely benign 0 -162562 Simple 727502844 A . Uncertain significance 2 2 not specified 2015-07-14 -0.48 3.0 Uncertain significance 0 -162576 Simple 34505698 A . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-06-08 -0.6 0.5 Uncertain significance 0 -162578 Simple 147185142 G . Uncertain significance 2 3 Laminin alpha 2-related dystrophy;not specified 2017-06-06 -0.87 0.6666666666666666 Uncertain significance 0 -162582 Simple 146525742 G . Uncertain significance 2 2 not specified 2017-05-12 -0.5700000000000001 1.0 Uncertain significance 0 -162587 Simple 10493123 A . Benign 2 1 not specified 2014-06-25 . 3.0 . 0 -162588 Simple 142485035 T . Uncertain significance 2 2 not specified 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -162591 Simple 150367385 G . Likely benign 2 5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;not provided;Walker-Warburg congenital muscular dystrophy 2017-07-27 -14.4 1.2 Benign/Likely benign 1 -162592 Simple 11345097 - . Benign 2 1 not specified 2015-10-28 . 2.0 . 0 -162595 Simple 80099135 C . Benign 2 1 not specified 2014-10-31 . 3.0 . 0 -162617 Simple 374338349 G . Benign 2 3 Lafora disease;Progressive myoclonic epilepsy;not specified 2017-07-05 -16.2 1.6666666666666667 Benign/Likely benign 1 -162673 Simple 45480502 A . Benign/Likely benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -162675 Simple 117031141 A . Benign/Likely benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -162696 Simple 727502875 A . Uncertain significance 2 2 not specified 2016-07-14 -0.51 2.5 Uncertain significance 0 -162698 Simple 571187142 TT . Benign/Likely benign 2 2 not specified 2014-04-25 -6.6 4.0 Likely benign 1 -162699 Simple 199631710 A . Likely benign 2 2 Dilated cardiomyopathy 1O;not specified 2016-11-21 -5.1 2.5 Likely benign 0 -162700 Simple 727502877 C . Uncertain significance 2 2 Dilated cardiomyopathy 1O;not specified 2016-09-26 -0.51 2.5 Uncertain significance 0 -162711 Simple 200089021 T . Likely benign 2 2 not specified 2016-03-28 -5.4 2.0 Likely benign 0 -162713 Simple 187127467 A . Likely benign 2 2 not specified 2016-06-28 -5.1 2.5 Likely benign 0 -162722 Simple 115307446 T . Benign 2 2 not specified 2016-03-11 -9.6 3.0 Benign/Likely benign 1 -162723 Simple 201920417 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -162735 Simple 144553482 G . Likely benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-08-03 -8.1 1.6666666666666667 Likely benign 0 -162739 Simple 145248415 G . Uncertain significance 2 2 not specified 2017-03-23 -0.51 2.0 Uncertain significance 0 -162743 Simple 112714025 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-07-06 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -162745 Simple 727502888 A . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-06-14 -0.54 1.5 Uncertain significance 0 -162747 Simple 727502889 A . Uncertain significance 2 2 not specified;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.54 2.0 Uncertain significance 0 -162750 Simple 141376679 A . Uncertain significance 2 3 ANKRD1-related dilated cardiomyopathy;not specified 2017-05-11 -0.84 1.0 Uncertain significance 0 -162752 Simple 42360 G . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -162753 Simple 6453373 T . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -162757 Simple 3832799 CAGCAGCAGCAGCAGCAG . Benign 2 1 not specified 2015-02-25 . 3.0 . 0 -162758 Simple 731682 G . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -162766 Simple 727502894 T . Uncertain significance 2 2 not specified 2017-03-02 -0.54 2.0 Uncertain significance 0 -162777 Simple 148985314 A . Likely benign 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-08-08 -4.8 2.5 Likely benign 0 -162778 Simple 200212999 T . Likely benign 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-06-27 -5.1 2.0 Likely benign 0 -162780 Simple 139399890 T . Benign/Likely benign 2 5 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-06-05 -19.5 1.6 Benign/Likely benign 0 -162782 Simple 144692954 T . Benign/Likely benign 2 4 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;not provided 2017-06-19 -18.6 1.75 Benign/Likely benign 0 -162788 Simple 142981190 A . Likely benign 2 3 not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -7.8 2.3333333333333335 Likely benign 0 -162790 Simple 758506 A . Benign/Likely benign 2 3 Hermansky-Pudlak syndrome;not specified 2016-07-11 -12.6 2.3333333333333335 Benign/Likely benign 0 -162791 Simple 55722784 C . Benign/Likely benign 2 4 Primary pulmonary hypertension;not specified 2017-08-07 -18.6 1.75 Benign/Likely benign 0 -162797 Simple 180177042 C . Pathogenic 2 2 not provided;Cardio-facio-cutaneous syndrome 2014-09-11 9.0 3.5 Pathogenic/Likely pathogenic 1 -162804 Simple 727502906 T . Likely benign 3 3 not specified;not provided;Rasopathy 2017-04-03 -8.7 1.3333333333333333 Benign/Likely benign 1 -162810 Simple 141314684 T . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-30 -0.87 1.0 Uncertain significance 0 -162817 Simple 372283956 T . Uncertain significance 2 2 not specified 2016-10-04 -0.51 2.5 Uncertain significance 0 -162818 Simple 727502908 G . Uncertain significance 2 4 Catecholaminergic polymorphic ventricular tachycardia type 1;Ventricular tachycardia, catecholaminergic polymorphic, 2;not specified 2017-05-23 -1.1099999999999999 1.5 Uncertain significance 0 -162820 Simple 199750975 T . Uncertain significance 2 6 Catecholaminergic polymorphic ventricular tachycardia type 1;Ventricular tachycardia, catecholaminergic polymorphic, 2;not specified;not provided;Catecholaminergic polymorphic ventricular tachycardia 2017-05-23 -1.5899999999999999 2.0 Uncertain significance 0 -162822 Simple 371260149 T . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-28 -5.1 2.0 Likely benign 0 -162827 Simple 121909281 A . Likely benign 2 3 Long QT syndrome;not specified 2017-07-27 -8.4 1.0 Benign/Likely benign 1 -162828 Simple 116840774 T . Benign/Likely benign 2 3 Long QT syndrome;not specified 2017-07-12 -13.8 1.6666666666666667 Benign/Likely benign 0 -162834 Simple 34732429 C . Benign 2 3 not specified;Rasopathy 2017-01-20 -14.4 3.0 Benign/Likely benign 1 -162838 Simple 61733583 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-28 -12.6 2.0 Benign/Likely benign 0 -162839 Simple 7612917 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -162840 Simple 11914833 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -162841 Simple 61733579 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-06-29 -12.6 2.0 Benign/Likely benign 0 -162842 Simple 6769457 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -162843 Simple 2338436 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -162844 Simple 112738198 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-31 -9.6 2.5 Benign/Likely benign 1 -162845 Simple 2885349 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-31 -12.6 2.0 Benign/Likely benign 0 -162846 Simple 2289530 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -162847 Simple 2289533 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -162848 Simple 61734950 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-31 -12.6 2.0 Benign/Likely benign 0 -162849 Simple 61749058 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -162850 Simple 35578653 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -162851 Simple 60684213 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -162852 Simple 56407805 G . Benign 2 4 Glycogen storage disease, type II;Primary ciliary dyskinesia;not specified 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -162853 Simple 2304853 C . Benign 2 4 Glycogen storage disease, type II;Primary ciliary dyskinesia;not specified 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -162859 Simple 143628723 A . Uncertain significance 2 2 not specified 2016-10-18 -0.51 2.5 Uncertain significance 0 -162860 Simple 114502673 G . Benign 2 1 not specified 2013-09-07 . 4.0 . 0 -162864 Simple 41281302 T . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.0 3.0 Benign/Likely benign 0 -162880 Simple 139287714 G . Uncertain significance 2 2 not specified 2016-07-19 -0.54 2.0 Uncertain significance 0 -162916 Simple 376952695 T . Likely benign 2 2 not specified 2016-11-07 -4.8 3.0 Likely benign 0 -162926 Simple 368381520 A . Uncertain significance 2 2 not specified 2017-02-24 -0.54 2.0 Uncertain significance 0 -162943 Simple 376617494 A . Uncertain significance 2 5 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2017-07-13 -1.44 1.2 Uncertain significance 0 -162962 Simple 10229820 T . Benign/Likely benign 2 4 Cystic fibrosis;not specified 2016-10-10 -17.4 2.5 Benign/Likely benign 0 -162972 Simple 17097468 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -162976 Simple 34055850 C . Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -162977 Simple 114580597 T . Benign/Likely benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-05-15 -24.6 1.375 Benign 1 -162992 Simple 61730262 T . Benign/Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-08-29 -21.6 1.4285714285714286 Benign/Likely benign 0 -162993 Simple 549704545 A . Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -17.1 1.5 Benign/Likely benign 1 -162998 Simple 147970333 A . Likely benign 2 2 not specified;Dilated cardiomyopathy 1II 2017-08-09 -5.1 2.0 Likely benign 0 -163002 Simple 34045013 A . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -163003 Simple 138964358 A . Benign/Likely benign 2 2 Surfactant metabolism dysfunction, pulmonary, 4;not specified 2017-07-31 -7.8 2.5 Likely benign 1 -163009 Simple 377066670 T . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified;Prolonged QT interval 2017-07-28 -0.84 1.0 Uncertain significance 0 -163013 Simple 185980145 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified 2016-10-23 -0.54 2.0 Uncertain significance 0 -163017 Simple 727502949 A . Uncertain significance 2 2 not specified;Dilated Cardiomyopathy, Dominant 2016-11-08 -0.51 2.5 Uncertain significance 0 -163024 Simple 200545412 A . Uncertain significance 2 4 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2016-05-15 -1.08 2.0 Uncertain significance 0 -163032 Simple 374353052 - . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -0.54 2.0 Uncertain significance 0 -163039 Simple 202246404 G . Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -5.1 2.5 Likely benign 0 -163071 Simple 727502961 G . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -0.54 2.0 Uncertain significance 0 -163073 Simple 373413837 C . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -0.54 2.0 Uncertain significance 0 -163078 Simple 34296458 A . Benign/Likely benign 2 3 Deafness, autosomal dominant 1;not specified;Seizures, cortical blindness, and microcephaly syndrome;Nonsyndromic Hearing Loss, Mixed 2017-08-11 -12.6 2.0 Benign/Likely benign 0 -163080 Simple 61743547 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-26 -12.6 2.0 Benign/Likely benign 0 -163083 Simple 111472069 G . Benign/Likely benign 2 4 Primary ciliary dyskinesia;not specified 2017-08-14 -18.0 2.0 Benign/Likely benign 0 -163084 Simple 3826151 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163085 Simple 34777958 T . Benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-12 -15.0 2.3333333333333335 Benign/Likely benign 1 -163086 Simple 2288019 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163087 Simple 2288020 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163088 Simple 2288021 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163089 Simple 2288022 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163090 Simple 2288023 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163091 Simple 9989177 C . Benign 2 3 Congenital disorder of glycosylation;Primary ciliary dyskinesia;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -163094 Simple 72655972 G . Benign/Likely benign 2 4 Primary ciliary dyskinesia;not specified 2017-07-20 -17.4 2.25 Benign/Likely benign 0 -163095 Simple 72655982 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-01-24 -12.6 2.3333333333333335 Benign/Likely benign 0 -163096 Simple 12670130 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163097 Simple 6963535 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163098 Simple 62441683 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163100 Simple 10224537 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163101 Simple 17745898 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163102 Simple 3827657 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163104 Simple 727502967 T . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2017-07-10 -0.51 2.0 Uncertain significance 0 -163105 Simple 17144835 G . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -163107 Simple 2965401 G . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -163108 Simple 68023059 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-15 -9.6 2.5 Benign/Likely benign 1 -163109 Simple 2072220 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163110 Simple 2072221 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163111 Simple 2003417 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-01-18 -12.6 2.3333333333333335 Benign/Likely benign 0 -163112 Simple 1109806 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163113 Simple 9639393 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163121 Simple 4722064 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163123 Simple 73279826 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -163124 Simple 73279830 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163125 Simple 17145720 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-12 -12.6 2.0 Benign/Likely benign 0 -163126 Simple 4722067 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163127 Simple 12666072 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163128 Simple 191802172 C . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-08-29 -0.51 2.5 Uncertain significance 0 -163129 Simple 72658834 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-03 -9.6 2.5 Benign/Likely benign 1 -163130 Simple 77448980 G . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-01-18 -12.6 2.3333333333333335 Benign/Likely benign 0 -163132 Simple 3734110 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163133 Simple 30175 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163134 Simple 727502971 - . Pathogenic/Likely pathogenic 2 2 Primary ciliary dyskinesia 2017-06-08 8.1 2.0 Likely pathogenic 1 -163135 Simple 727502972 C . Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-03-09 -5.4 1.5 Likely benign 0 -163136 Simple 2401809 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163137 Simple 6554812 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163138 Simple 111995400 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-26 -12.6 2.0 Benign/Likely benign 0 -163140 Simple 727502974 C . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-10-30 -0.54 2.0 Uncertain significance 0 -163142 Simple 10078391 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163144 Simple 1348691 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163145 Simple 1348689 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163146 Simple 77957856 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-05-15 -9.6 2.5 Benign/Likely benign 1 -163149 Simple 4429853 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163150 Simple 6554820 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163151 Simple 146191243 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-11 -9.6 2.5 Benign/Likely benign 1 -163152 Simple 141168110 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-09 -8.4 1.5 Benign/Likely benign 0 -163153 Simple 61747516 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-04 -12.6 2.0 Benign/Likely benign 0 -163154 Simple 10057007 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163155 Simple 16902886 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-04 -12.6 2.0 Benign/Likely benign 0 -163156 Simple 76229167 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-04 -12.6 2.0 Benign/Likely benign 0 -163157 Simple 1530498 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163158 Simple 3213936 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163159 Simple 1530496 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163161 Simple 1530497 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163162 Simple 3818577 G . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -163163 Simple 16931549 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-07 -13.2 1.6666666666666667 Benign/Likely benign 0 -163164 Simple 11793196 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163165 Simple 11999454 G . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -163167 Simple 34159194 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163168 Simple 8073660 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163169 Simple 2290955 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163170 Simple 9908476 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-15 -12.6 2.0 Benign/Likely benign 0 -163171 Simple 1979370 A . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -163172 Simple 72721725 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163173 Simple 11789099 A . Benign/Likely benign 2 3 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -163174 Simple 10970979 G . Benign 2 2 not specified;Hyper-IgE syndrome 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163175 Simple 13285348 T . Benign 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified 2017-07-31 -9.6 2.5 Benign/Likely benign 1 -163176 Simple 7036567 G . Benign 2 2 not specified;Hyper-IgE syndrome 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163177 Simple 2360712 G . Benign 2 2 not specified;Hyper-IgE syndrome 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163178 Simple 35662752 T . Benign/Likely benign 2 4 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2017-06-30 -18.0 2.0 Benign/Likely benign 0 -163186 Simple 567202599 T . Benign/Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2016-09-04 -8.4 2.0 Benign/Likely benign 0 -163188 Simple 373324195 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2016-11-26 -0.54 2.0 Uncertain significance 0 -163192 Simple 137941742 C . Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;Cardiovascular phenotype 2017-07-17 -8.4 1.0 Benign/Likely benign 1 -163194 Simple 572309510 - . Benign/Likely benign 2 2 not specified 2015-05-07 -7.5 3.0 Likely benign 1 -163203 Simple 727502985 G . Uncertain significance 2 3 not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -163205 Simple 727502987 - . Uncertain significance 2 3 not specified 2016-01-14 -0.75 2.6666666666666665 Uncertain significance 0 -163207 Simple 202095254 C . Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-05-20 -4.8 2.5 Likely benign 0 -163210 Simple 200509948 T . Benign/Likely benign 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype 2017-09-25 -21.3 1.6 Benign/Likely benign 0 -163216 Simple 727502989 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;not specified 2015-10-16 -0.51 2.5 Uncertain significance 0 -163221 Simple 150864240 A . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-06-20 -11.7 1.0 Benign/Likely benign 0 -163229 Simple 183494886 T . Benign/Likely benign 2 3 not specified;Cardiovascular phenotype 2017-06-12 -10.5 1.6666666666666667 Benign/Likely benign 0 -163237 Simple 200473206 A . Uncertain significance 2 5 Primary dilated cardiomyopathy;Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy;Long QT syndrome;not specified 2017-07-25 -1.35 1.6 Uncertain significance 0 -163239 Simple 144781697 C . Benign/Likely benign 2 4 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified;Cardiovascular phenotype 2017-02-09 -15.6 2.0 Benign/Likely benign 0 -163265 Simple 727503001 A . Pathogenic/Likely pathogenic 2 2 Cardiomyopathy;not provided 2015-04-29 7.5 3.0 Likely pathogenic 1 -163270 Simple 141805096 A . Uncertain significance 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-09-20 -0.75 2.6666666666666665 Uncertain significance 0 -163299 Simple 17470454 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -163302 Simple 3829893 A . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163326 Simple 633800 A . Benign 2 3 Cutis laxa, recessive;not specified 2016-09-29 -15.6 2.3333333333333335 Benign/Likely benign 1 -163387 Simple 727503027 G . Pathogenic 2 2 Supravalvar aortic stenosis 2017-07-27 9.0 3.0 Pathogenic/Likely pathogenic 1 -163388 Simple 727503028 GG . Pathogenic 2 2 Supravalvar aortic stenosis;not provided 2014-06-25 8.4 4.0 Pathogenic/Likely pathogenic 1 -163391 Simple 727503030 A . Pathogenic/Likely pathogenic 2 3 Supravalvar aortic stenosis;not provided 2017-06-14 13.2 1.6666666666666667 Pathogenic/Likely pathogenic 0 -163406 Simple 1800956 G . Benign/Likely benign 2 5 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2017-08-08 -22.2 1.4 Benign/Likely benign 0 -163413 Simple 142638391 G . Benign/Likely benign 2 2 not specified;not provided 2016-07-22 -6.6 3.0 Likely benign 1 -163416 Simple 143477571 G . Benign 2 2 not specified 2016-02-04 -9.600000000000001 3.0 Benign/Likely benign 1 -163434 Simple 186249248 C . Benign/Likely benign 2 3 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -163435 Simple 55972891 T . Benign/Likely benign 2 4 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified 2016-08-30 -15.6 2.0 Benign/Likely benign 0 -163446 Simple 41286200 T . Uncertain significance 2 5 not specified;not provided;Dilated Cardiomyopathy, Dominant;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -1.29 2.4 Uncertain significance 0 -163447 Simple 75133151 A . Benign 2 3 Dilated cardiomyopathy 1J;not specified 2017-07-27 -13.8 3.0 Benign/Likely benign 1 -163450 Simple 2430347 G . Benign 2 5 not specified;Macular degeneration;Cutis Laxa, Dominant/Recessive 2016-09-29 -27.0 2.0 Benign 0 -163453 Simple 727503053 - . Uncertain significance 2 2 not specified;EYA4-Related Disorders 2016-06-14 -0.51 2.5 Uncertain significance 0 -163455 Simple 74071605 T . Benign 2 3 not specified;Macular degeneration;Cutis Laxa, Dominant/Recessive 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -163456 Simple 74071606 A . Benign 2 3 not specified;Macular degeneration;Cutis Laxa, Dominant/Recessive 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -163461 Simple 200309328 A . Pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-03 16.8 1.0 Pathogenic 0 -163462 Simple 727503054 G . Pathogenic/Likely pathogenic 2 7 Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;Acromicric dysplasia;Geleophysic dysplasia 2;Thoracic aortic aneurysm and aortic dissection;not specified;Ascending aortic aneurysm;Scoliosis;Tall stature;not provided;Thoracic aortic Aneurysm and dissection (TAAD);Aortic aneurysm;Joint hypermobility;Severe Myopia;Marfan lipodystrophy syndrome 2017-07-19 28.5 1.1428571428571428 Pathogenic 1 -163464 Simple 727503055 C . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-07-13 -0.5700000000000001 1.5 Uncertain significance 0 -163480 Simple 727503057 A . Pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-07-24 10.8 1.5 Pathogenic/Likely pathogenic 1 -163486 Simple 25397 T . Benign/Likely benign 2 12 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2016-10-30 -39.6 1.4166666666666667 Benign 1 -163499 Simple 564747350 A . Uncertain significance 2 2 not specified;Cardiomyopathy, dilated, 2b 2017-03-04 -0.54 2.0 Uncertain significance 0 -163500 Simple 36010631 T . Benign/Likely benign 2 2 not specified;Hirschsprung Disease, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -163501 Simple 150473323 A . Likely benign 2 1 not specified 2014-05-30 . 3.0 . 0 -163502 Simple 727503062 A . Likely pathogenic 2 2 Nonsyndromic hearing loss and deafness;not provided 2016-06-03 5.4 2.0 Likely pathogenic 0 -163529 Simple 150245955 A . Benign/Likely benign 2 2 not specified 2016-06-07 -6.6 3.0 Likely benign 1 -163530 Simple 61732640 A . Benign 2 4 Erythrokeratodermia variabilis;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -163535 Simple 61734064 A . Benign 2 4 Erythrokeratodermia variabilis;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -163563 Simple 61744480 C . Benign/Likely benign 2 2 not specified 2015-02-03 -6.0 4.0 Likely benign 1 -163585 Simple 373069459 A . Benign/Likely benign 2 2 not specified 2015-08-10 -6.300000000000001 3.5 Likely benign 1 -163590 Simple 116480183 A . Benign/Likely benign 2 2 not specified;not provided 2017-02-22 -6.6 3.0 Likely benign 1 -163597 Simple 13171868 C . Benign/Likely benign 2 3 not specified;not provided 2017-06-26 -11.4 2.6666666666666665 Benign/Likely benign 0 -163622 Simple 183851734 A . Uncertain significance 2 2 not specified 2016-05-25 -0.51 2.5 Uncertain significance 0 -163628 Simple 369717492 G . Uncertain significance 2 2 not specified 2015-10-04 -0.51 2.5 Uncertain significance 0 -163629 Simple 147011199 G . Uncertain significance 2 2 not specified 2016-04-19 -0.54 2.0 Uncertain significance 0 -163641 Simple 138132875 G . Benign/Likely benign 2 2 not specified 2016-01-05 -6.300000000000001 3.5 Likely benign 1 -163642 Simple 35322815 T . Benign/Likely benign 2 3 not specified;not provided 2017-05-04 -12.6 2.0 Benign/Likely benign 0 -163664 Simple 2296433 A . Benign 2 3 Hermansky-Pudlak syndrome;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -163665 Simple 2296432 G . Benign 2 3 Hermansky-Pudlak syndrome;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -163666 Simple 11539873 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163667 Simple 58548334 G . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163668 Simple 6440589 A . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163669 Simple 3732557 T . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163670 Simple 1894704 A . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163671 Simple 1894706 A . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163672 Simple 5752330 T . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163673 Simple 2014410 C . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163674 Simple 713998 C . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163675 Simple 13054747 T . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163676 Simple 2049129 C . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -163677 Simple 7128017 T . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -163678 Simple 1140047 T . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -163680 Simple 139591041 G . Benign/Likely benign 2 3 Hermansky-Pudlak syndrome;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -163683 Simple 3737243 A . Benign/Likely benign 2 3 Hermansky-Pudlak syndrome;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -163690 Simple 727503094 TT . Pathogenic/Likely pathogenic 2 2 Costello syndrome;not provided 2017-05-31 8.1 2.0 Likely pathogenic 1 -163706 Simple 112879398 A . Benign 2 3 not specified;Cardiovascular phenotype 2016-02-02 -13.200000000000001 3.6666666666666665 Benign/Likely benign 1 -163710 Simple 147628503 C . Uncertain significance 2 4 Naxos disease;Paroxysmal familial ventricular fibrillation 1;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-07-18 -1.1400000000000001 1.25 Uncertain significance 0 -163717 Simple 77375949 A . Benign/Likely benign 2 2 not specified 2015-05-05 -7.2 3.5 Likely benign 1 -163718 Simple 200019016 T . Uncertain significance 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2016-10-31 -0.51 2.5 Uncertain significance 0 -163721 Simple 146804895 A . Likely benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-05-04 -5.4 1.5 Likely benign 0 -163723 Simple 138397457 A . Likely benign 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-05-08 -7.8 2.0 Likely benign 0 -163725 Simple 144171604 T . Benign 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-03-02 -18.0 1.0 Benign/Likely benign 1 -163728 Simple 727503101 C . Likely benign 2 2 not specified 2016-06-20 -5.4 2.0 Likely benign 0 -163730 Simple 187686559 T . Benign/Likely benign 2 6 Long QT syndrome;Romano-Ward syndrome;not specified;Jervell and Lange-Nielsen syndrome 2017-07-03 -21.9 1.6666666666666667 Benign/Likely benign 0 -163732 Simple 367817352 C . Benign/Likely benign 2 3 Long QT syndrome;not specified 2017-07-21 -11.1 1.6666666666666667 Benign/Likely benign 0 -163734 Simple 1800170 T . Benign/Likely benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2017-05-25 -30.0 1.5 Benign 1 -163735 Simple 28730664 T . Benign/Likely benign 2 7 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-08-04 -24.6 1.4285714285714286 Benign 1 -163737 Simple 200669271 T . Likely benign 2 2 Long QT syndrome;not specified 2017-03-13 -5.1 2.0 Likely benign 0 -163739 Simple 727503103 - . Benign/Likely benign 2 2 Cardiac arrhythmia;not specified 2014-07-25 -6.9 3.5 Likely benign 1 -163744 Simple 147091980 A . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-05-25 -10.8 2.0 Benign/Likely benign 0 -163750 Simple 137896524 A . Benign 2 1 not specified 2015-02-02 . 3.0 . 0 -163766 Simple 727503108 A . Pathogenic/Likely pathogenic 2 2 Non-small cell lung cancer;not provided;Rasopathy 2017-11-07 8.1 2.0 Likely pathogenic 1 -163768 Simple 727503109 C . Likely pathogenic 2 2 not provided;Rasopathy 2016-07-27 4.5 5.0 Likely pathogenic 0 -163788 Simple 35772073 A . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 1JJ;Cardiovascular phenotype 2017-08-04 -13.2 1.75 Benign/Likely benign 0 -163789 Simple 142559688 T . Benign/Likely benign 2 3 not specified;Dilated cardiomyopathy 1JJ;Cardiovascular phenotype 2017-05-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -163793 Simple 143587921 T . Benign/Likely benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-05-08 -11.4 1.3333333333333333 Benign/Likely benign 0 -163798 Simple 147118520 G . Benign 2 2 not specified 2015-05-09 -9.0 3.5 Benign/Likely benign 1 -163812 Simple 727503118 A . Pathogenic 2 3 Danon disease;not provided 2017-05-31 17.4 1.0 Pathogenic 0 -163813 Simple 727503119 A . Pathogenic 2 2 Danon disease;not provided 2013-10-08 8.4 4.0 Pathogenic/Likely pathogenic 1 -163819 Simple 727503122 A . Likely benign 2 2 Danon disease;not specified 2017-03-15 -5.4 1.5 Likely benign 0 -163829 Simple 727503123 T . Uncertain significance 2 2 not specified 2017-03-06 -0.54 1.5 Uncertain significance 0 -163831 Simple 727503124 T . Likely benign 2 2 not specified 2015-10-29 -5.1 2.5 Likely benign 0 -163836 Simple 727503125 T . Likely benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-07-17 -7.800000000000001 2.0 Likely benign 0 -163845 Simple 201968775 A . Uncertain significance 2 2 not specified 2015-06-08 -0.51 2.5 Uncertain significance 0 -163852 Simple 727503131 C . Uncertain significance 2 2 not specified 2017-08-01 -0.51 2.0 Uncertain significance 0 -163854 Simple 139213290 T . Benign/Likely benign 2 3 Myofibrillar myopathy, ZASP-related;not specified 2016-11-16 -10.5 2.3333333333333335 Benign/Likely benign 0 -163866 Simple 267607570 A . Uncertain significance 2 2 not specified 2016-03-03 -0.48 3.0 Uncertain significance 0 -163902 Simple 140042576 T . Likely benign 2 2 not specified 2016-02-26 -5.4 2.0 Likely benign 0 -163906 Simple 369463541 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -163913 Simple 370149278 C . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -163931 Simple 369682197 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -163939 Simple 376467400 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -163945 Simple 2303729 A . Benign 2 4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-09-29 -21.0 2.25 Benign/Likely benign 1 -163946 Simple 1131620 G . Benign 2 3 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-09-29 -15.6 2.3333333333333335 Benign/Likely benign 1 -163947 Simple 2077407 T . Benign/Likely benign 2 3 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-10-10 -12.6 2.3333333333333335 Benign/Likely benign 0 -163950 Simple 7367 T . Benign 2 2 not specified 2016-09-29 -9.6 3.0 Benign/Likely benign 1 -164005 Simple 56123928 C . Benign 2 2 not specified 2014-05-22 -8.4 4.0 Benign/Likely benign 1 -164021 Simple 727503166 - . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;Cardiomyopathy 2015-02-05 6.0 4.0 Likely pathogenic 1 -164026 Simple 727503168 G . Uncertain significance 2 2 not specified 2015-02-05 -0.44999999999999996 3.5 Uncertain significance 0 -164042 Simple 727503172 - . Pathogenic 2 4 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-29 21.6 1.5 Pathogenic 0 -164043 Simple 727503173 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2016-10-26 -0.72 3.0 Uncertain significance 0 -164049 Simple 727503175 - . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy 2015-02-05 6.6 3.5 Likely pathogenic 1 -164050 Simple 397516002 A . Uncertain significance 2 2 not specified 2015-11-25 -0.54 2.0 Uncertain significance 0 -164055 Simple 727503180 A . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided 2015-07-09 13.8 3.3333333333333335 Pathogenic/Likely pathogenic 1 -164070 Simple 727503185 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2016-11-22 -0.75 2.6666666666666665 Uncertain significance 0 -164071 Simple 727503186 - . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2013-05-16 7.800000000000001 4.5 Likely pathogenic 2 -164075 Simple 370561202 A . Likely benign 2 2 not specified 2016-07-21 -5.1 2.5 Likely benign 0 -164091 Simple 727503192 C . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2017-08-21 10.8 1.5 Pathogenic/Likely pathogenic 1 -164105 Simple 377163678 T . Uncertain significance 2 2 not specified 2016-06-28 -0.51 2.5 Uncertain significance 0 -164107 Simple 111437311 G . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2016-10-18 9.6 3.0 Pathogenic/Likely pathogenic 1 -164113 Simple 200411226 T . Pathogenic/Likely pathogenic 2 7 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy;MYBPC3-Related Disorders 2017-07-10 33.0 1.5714285714285714 Pathogenic 1 -164115 Simple 727503201 . . Uncertain significance 2 2 not specified 2012-04-19 -0.32999999999999996 5.5 Uncertain significance 0 -164117 Simple 370285346 A . Uncertain significance 2 5 Familial hypertrophic cardiomyopathy 4;not specified;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy 2017-08-01 -1.38 1.4 Uncertain significance 0 -164118 Simple 727503203 - . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2015-11-10 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -164119 Simple 727503204 T . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;Hypertrophic cardiomyopathy 2016-12-19 10.5 2.0 Pathogenic/Likely pathogenic 0 -164126 Simple 727503207 C . Uncertain significance 2 2 not specified 2014-09-29 -0.44999999999999996 3.5 Uncertain significance 0 -164128 Simple 727503208 T . Uncertain significance 2 2 not specified 2014-08-18 -0.44999999999999996 3.5 Uncertain significance 0 -164136 Simple 727503211 T . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-03-20 17.4 1.0 Pathogenic 0 -164140 Simple 727503212 - . Pathogenic/Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-03-28 18.9 1.75 Pathogenic 1 -164147 Simple 727503216 A . Uncertain significance 2 2 not specified 2017-08-31 -0.54 1.5 Uncertain significance 0 -164159 Simple 371140684 T . Uncertain significance 2 6 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-01-12 -1.65 1.8333333333333333 Uncertain significance 0 -164160 Simple 374630007 T . Uncertain significance 2 2 not specified 2016-11-01 -0.51 2.5 Uncertain significance 0 -164165 Simple 201835322 T . Benign 2 2 not specified 2016-08-26 -11.4 1.5 Benign/Likely benign 1 -164171 Simple 537153044 G . Benign/Likely benign 2 3 not specified;not provided;Nonsyndromic Hearing Loss, Dominant 2017-01-24 -11.4 1.3333333333333333 Benign/Likely benign 0 -164185 Simple 78573213 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -164205 Simple 115844649 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -164206 Simple 10419343 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -164229 Simple 201051663 A . Uncertain significance 2 2 not specified 2017-02-02 -0.54 2.0 Uncertain significance 0 -164242 Simple 148915045 T . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 14;not specified 2017-07-26 -14.7 1.0 Benign/Likely benign 0 -164255 Simple 141187241 C . Uncertain significance 2 2 not specified 2017-10-13 -0.54 1.5 Uncertain significance 0 -164257 Simple 727503239 T . Uncertain significance 2 5 Primary familial hypertrophic cardiomyopathy;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.3499999999999999 2.0 Uncertain significance 0 -164262 Simple 146796870 T . Likely benign 2 2 not specified 2016-12-05 -4.8 3.0 Likely benign 0 -164268 Simple 727503242 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2016-10-31 -0.8099999999999999 2.0 Uncertain significance 0 -164284 Simple 45544633 A . Pathogenic/Likely pathogenic 2 2 Cardiomyopathy;Hypertrophic cardiomyopathy 2016-10-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -164293 Simple 727503245 C . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 1;not specified 2017-10-10 -0.69 3.0 Uncertain significance 0 -164294 Simple 727503246 T . Likely pathogenic 3 5 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2016-12-15 20.4 1.2 Pathogenic 2 -164305 Simple 192722540 C . Uncertain significance 2 2 not specified 2014-02-14 -0.42 4.0 Uncertain significance 0 -164312 Simple 397516171 G . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Congenital myopathy with fiber type disproportion;Dilated cardiomyopathy 1S;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;Scapuloperoneal myopathy, MYH7-related;not provided 2017-10-27 10.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -164313 Simple 727503252 T . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-04-07 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -164316 Simple 727503253 A . Pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1S 2016-02-18 15.600000000000001 2.3333333333333335 Pathogenic 0 -164319 Simple 727503254 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-26 -0.5700000000000001 1.0 Uncertain significance 0 -164334 Simple 36211714 A . Benign 3 4 not specified;Cardiovascular phenotype 2016-12-15 -16.5 2.25 Benign/Likely benign 1 -164337 Simple 727503260 T . Pathogenic/Likely pathogenic 2 4 Familial hypertrophic cardiomyopathy 1;Cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-08-01 20.4 0.75 Pathogenic 1 -164342 Simple 727503261 G . Pathogenic 3 7 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-12-15 38.1 1.1428571428571428 Pathogenic 0 -164377 Simple 727503268 T . Uncertain significance 2 2 not specified 2017-01-27 -0.48 3.0 Uncertain significance 0 -164378 Simple 727503269 C . Likely pathogenic 3 3 Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;not provided 2016-12-15 10.5 1.6666666666666667 Pathogenic/Likely pathogenic 1 -164381 Simple 727503271 T . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2014-11-20 7.199999999999999 3.0 Likely pathogenic 1 -164382 Simple 727503272 A . Uncertain significance 2 2 not specified 2013-09-24 -0.39 4.5 Uncertain significance 0 -164392 Simple 727503276 G . Uncertain significance 2 2 not specified 2015-09-27 -0.48 3.0 Uncertain significance 0 -164395 Simple 727503277 A . Uncertain significance 2 2 not specified 2014-06-25 -0.44999999999999996 3.5 Uncertain significance 0 -164415 Simple 201676960 A . Benign/Likely benign 2 1 not specified 2012-04-30 . 5.0 . 0 -164421 Simple 138158369 C . Uncertain significance 2 2 not specified;not provided 2016-09-30 -0.51 2.5 Uncertain significance 0 -164426 Simple 143269195 T . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -164436 Simple 369577944 T . Likely benign 2 1 not specified 2016-03-08 . 1.0 . 0 -164438 Simple 727503286 A . Uncertain significance 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -164445 Simple 148112044 A . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -164446 Simple 151036570 T . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -164449 Simple 34498733 T . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -164450 Simple 200328859 G . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -8.1 2.0 Likely benign 0 -164451 Simple 199505086 C . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -164452 Simple 113285582 A . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -164456 Simple 7285745 A . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -164460 Simple 138502859 A . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -164462 Simple 201738304 A . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -164481 Simple 727503299 T . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 10;not specified 2017-07-28 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -164491 Simple 148310342 G . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-03-07 -0.54 1.5 Uncertain significance 0 -164506 Simple 147099889 T . Likely benign 2 2 not specified 2017-05-09 -5.4 1.5 Likely benign 0 -164513 Simple 146754758 A . Benign/Likely benign 2 1 not specified 2013-05-06 . 4.0 . 0 -164532 Simple 185873402 T . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-08-25 -0.84 1.6666666666666667 Uncertain significance 0 -164548 Simple 727503315 - . Pathogenic 2 2 Nonsyndromic hearing loss and deafness;not provided 2017-10-24 10.8 1.5 Pathogenic/Likely pathogenic 1 -164549 Simple 199953758 G . Uncertain significance 2 2 Deafness, autosomal recessive 3;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -164578 Simple 79857347 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -164583 Simple 144384395 C . Likely benign 2 1 not specified 2014-05-01 . 3.0 . 0 -164588 Simple 151269703 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -164594 Simple 12297756 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -164604 Simple 112520797 - . Benign 2 1 not specified 2013-05-13 . 4.0 . 0 -164620 Simple 201033926 T . Uncertain significance 2 3 Deafness, autosomal recessive 30;not specified;Nonsyndromic Hearing Loss, Recessive 2017-07-28 -0.87 1.0 Uncertain significance 0 -164639 Simple 141845119 T . Uncertain significance 2 3 not specified;not provided 2017-02-28 -0.75 2.6666666666666665 Uncertain significance 0 -164644 Simple 138437852 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -164735 Simple 532565487 A . Benign/Likely benign 2 2 not specified 2015-08-24 -7.5 3.0 Likely benign 1 -164741 Simple 200705273 A . Uncertain significance 2 3 not specified 2017-10-17 -0.84 1.0 Uncertain significance 0 -164752 Simple 45628140 C . Benign 2 3 Primary dilated cardiomyopathy;not specified 2017-06-19 -14.4 2.6666666666666665 Benign/Likely benign 1 -164757 Simple 71534253 A . Benign 2 2 not specified 2014-06-23 -8.4 4.0 Benign/Likely benign 1 -164758 Simple 150518045 T . Likely benign 2 2 not specified 2016-03-07 -5.1 2.5 Likely benign 0 -164759 Simple 143644290 C . Uncertain significance 2 3 Primary dilated cardiomyopathy;not specified 2017-04-28 -0.84 1.3333333333333333 Uncertain significance 0 -164761 Simple 111854914 A . Benign 2 2 Primary dilated cardiomyopathy;not specified 2017-06-28 -9.6 2.5 Benign/Likely benign 1 -164769 Simple 71578975 C . Benign 2 2 Primary dilated cardiomyopathy;not specified 2017-07-11 -9.6 2.5 Benign/Likely benign 1 -164797 Simple 727503346 G . Likely benign 2 2 not specified 2016-01-11 -5.1 2.5 Likely benign 0 -164798 Simple 2722372 A . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -164799 Simple 2598044 T . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -164800 Simple 3213976 A . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -164801 Simple 10250905 C . Benign 2 1 not specified 2013-06-11 . 4.0 . 0 -164802 Simple 62001868 G . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -164803 Simple 62001870 C . Benign 2 2 Ciliary dyskinesia, primary, 6;not specified 2017-08-16 -9.6 2.5 Benign/Likely benign 1 -164804 Simple 1530822 G . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -164805 Simple 41276027 T . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -164806 Simple 3213975 C . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -164807 Simple 114668710 T . Benign/Likely benign 2 2 not specified;Rasopathy 2017-05-13 -8.4 1.5 Benign/Likely benign 0 -164823 Simple 199908646 C . Likely benign 2 1 not specified 2015-03-30 . 2.0 . 0 -164827 Simple 461179 T . Benign 2 3 not specified 2016-02-29 -15.0 2.6666666666666665 Benign/Likely benign 1 -164943 Simple 17885864 T . Benign 2 7 Congenital central hypoventilation;Neuroblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -40.8 1.1428571428571428 Benign 0 -164944 Simple 17884724 G . Benign 2 5 Congenital central hypoventilation;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -29.4 1.0 Benign 0 -164953 Simple 143503798 A . Uncertain significance 2 2 not specified 2014-11-03 -0.44999999999999996 3.5 Uncertain significance 0 -164991 Simple 148056866 A . Uncertain significance 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2017-06-05 -0.51 2.0 Uncertain significance 0 -164995 Simple 727503379 - . Pathogenic 2 2 Carney complex;not provided 2016-07-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -164996 Simple 61735617 G . Benign/Likely benign 2 8 Arts syndrome;Phosphoribosylpyrophosphate synthetase superactivity;Charcot-Marie-Tooth Neuropathy X;not specified;Charcot-Marie-Tooth, X-linked;Nonsyndromic Hearing Loss, X-Linked 2017-07-05 -32.4 1.625 Benign 1 -164998 Simple 727503381 T . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided 2016-04-26 7.8 2.0 Likely pathogenic 1 -165022 Simple 182768779 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1DD;not specified 2017-06-29 -11.7 1.0 Benign/Likely benign 0 -165041 Simple 561904103 G . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2017-08-04 -0.5700000000000001 1.0 Uncertain significance 0 -165046 Simple 371951525 G . Uncertain significance 2 3 Dilated cardiomyopathy 1DD;not specified 2017-07-31 -0.87 1.0 Uncertain significance 0 -165056 Simple 2075912 C . Benign 2 1 not specified 2013-06-11 . 4.0 . 0 -165058 Simple 141226759 G . Uncertain significance 2 3 Primary ciliary dyskinesia;not specified 2017-02-28 -0.84 1.6666666666666667 Uncertain significance 0 -165060 Simple 6927567 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -165061 Simple 784133 C . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -165062 Simple 9488991 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -165063 Simple 2295947 A . Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-08-22 -4.8 3.0 Likely benign 0 -165065 Simple 16896629 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -165082 Simple 727503398 G . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-27 -5.1 2.0 Likely benign 0 -165096 Simple 368930040 C . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-05-23 -13.5 2.0 Benign/Likely benign 0 -165117 Simple 727503404 A . Uncertain significance 2 3 not specified;not provided 2017-08-29 -0.75 2.3333333333333335 Uncertain significance 0 -165118 Simple 370332882 G . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-20 -5.1 2.0 Likely benign 0 -165127 Simple 190009333 C . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-06-18 -0.51 2.5 Uncertain significance 0 -165128 Simple 571985775 A . Uncertain significance 2 6 Arrhythmogenic right ventricular dysplasia, familial, 2;Catecholaminergic polymorphic ventricular tachycardia type 1;Left ventricular noncompaction;not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-08-17 -1.77 0.3333333333333333 Uncertain significance 0 -165140 Simple 200656652 G . Benign/Likely benign 2 3 Brugada syndrome;not specified 2017-06-29 -10.5 2.0 Benign/Likely benign 0 -165142 Simple 553231555 A . Likely benign 2 2 Brugada syndrome;not specified 2016-03-27 -5.4 2.0 Likely benign 0 -165143 Simple 372328054 C . Likely benign 2 2 Brugada syndrome;not specified 2017-06-29 -5.1 2.0 Likely benign 0 -165149 Simple 727503408 T . Uncertain significance 2 2 not specified 2016-03-25 -0.54 2.0 Uncertain significance 0 -165158 Simple 187531872 T . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype 2017-03-16 -0.75 2.3333333333333335 Uncertain significance 0 -165159 Simple 45489099 A . Benign/Likely benign 2 3 Brugada syndrome;not specified 2017-07-26 -12.0 2.6666666666666665 Benign/Likely benign 0 -165164 Simple 2228576 C . Benign 2 4 not specified;Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -165165 Simple 11542844 T . Benign 2 3 not specified;Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -165167 Simple 238547 C . Benign 2 6 Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2017-07-24 -32.4 1.8333333333333333 Benign 0 -165169 Simple 74012901 T . Benign/Likely benign 2 4 Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -165170 Simple 34618783 A . Benign 2 4 Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -165171 Simple 61759926 A . Likely benign 2 4 Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -165172 Simple 5734 C . Benign 2 4 Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2017-07-24 -21.6 1.75 Benign/Likely benign 1 -165173 Simple 5735 C . Benign 2 4 Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2017-07-24 -21.6 1.75 Benign/Likely benign 1 -165174 Simple 5737 T . Benign 2 3 Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -165175 Simple 13306653 A . Benign 2 3 Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -165176 Simple 5740 G . Benign 2 3 Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -165177 Simple 5723 G . Benign 2 4 Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2017-07-24 -21.6 1.75 Benign/Likely benign 1 -165179 Simple 11541235 G . Benign/Likely benign 2 5 Gastrointestinal stromal tumor;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4;Pheochromocytoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -18.6 1.8 Benign/Likely benign 0 -165182 Simple 61733156 C . Benign 2 4 Gastrointestinal stromal tumor;Paragangliomas 3;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -21.6 1.5 Benign/Likely benign 1 -165184 Simple 149570245 A . Benign 2 2 Pheochromocytoma;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -165185 Simple 1049800 G . Benign/Likely benign 2 3 Alpha-1-antitrypsin deficiency;not specified 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -165186 Simple 34112109 T . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -165191 Simple 201080069 T . Likely benign 2 1 not specified 2015-02-04 . 3.0 . 0 -165202 Simple 3024810 A . Benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -165204 Simple 1130866 A . Benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -165205 Simple 34682912 T . Benign 2 2 not specified 2016-09-21 -9.6 3.0 Benign/Likely benign 1 -165206 Simple 3024798 T . Benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -165207 Simple 3024793 T . Benign/Likely benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -165208 Simple 2077079 G . Benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -165209 Simple 8192327 A . Benign/Likely benign 2 4 Idiopathic fibrosing alveolitis, chronic form;not specified;Pulmonary Surfactant Metabolism Dysfunction, Dominant;Osteogenesis Imperfecta, Recessive 2016-06-14 -18.6 2.0 Benign/Likely benign 0 -165210 Simple 4715 A . Benign/Likely benign 2 4 Idiopathic fibrosing alveolitis, chronic form;not specified;Pulmonary Surfactant Metabolism Dysfunction, Dominant;Osteogenesis Imperfecta, Recessive 2016-06-14 -19.2 1.75 Benign/Likely benign 0 -165211 Simple 2070687 G . Benign 2 4 Idiopathic fibrosing alveolitis, chronic form;not specified;Pulmonary Surfactant Metabolism Dysfunction, Dominant;Osteogenesis Imperfecta, Recessive 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -165212 Simple 1124 A . Benign 2 4 Idiopathic fibrosing alveolitis, chronic form;not specified;Pulmonary Surfactant Metabolism Dysfunction, Dominant;Osteogenesis Imperfecta, Recessive 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -165215 Simple 2243639 C . Benign 2 2 not specified 2015-05-08 -9.600000000000001 3.0 Benign/Likely benign 1 -165234 Simple 727503423 A . Uncertain significance 2 4 Dilated cardiomyopathy 1L;Limb-girdle muscular dystrophy, type 2F;not specified;not provided 2017-05-23 -1.02 2.25 Uncertain significance 0 -165235 Simple 376317697 C . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 2015-03-11 -0.42000000000000004 4.5 Uncertain significance 0 -165236 Simple 143180451 A . Likely benign 2 2 Noonan syndrome-like disorder with loose anagen hair 1;not specified 2016-06-14 -4.5 4.0 Likely benign 0 -165242 Simple 11568531 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -165263 Simple 727503430 A . Pathogenic/Likely pathogenic 2 3 Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not provided 2017-05-03 13.5 1.6666666666666667 Pathogenic/Likely pathogenic 0 -165265 Simple 727503431 T . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-06-21 7.8 2.0 Likely pathogenic 1 -165270 Simple 142639517 G . Benign/Likely benign 2 2 not specified 2016-07-08 -6.6 3.0 Likely benign 1 -165294 Simple 3830585 AA . Benign 2 3 not specified;Hyper-IgE syndrome 2017-11-12 -16.2 1.6666666666666667 Benign/Likely benign 1 -165311 Simple 376104748 C . Pathogenic/Likely pathogenic 2 2 Deafness, autosomal dominant 16;Nonsyndromic hearing loss and deafness;not provided 2016-02-19 4.800000000000001 3.0 Likely pathogenic 1 -165350 Simple 202127508 G . Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -8.1 2.0 Likely benign 0 -165357 Simple 727503460 T . Likely benign 2 2 not specified 2016-03-03 -4.800000000000001 3.0 Likely benign 0 -165358 Simple 139158022 A . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -165360 Simple 147890616 C . Uncertain significance 2 2 not specified 2016-08-17 -0.51 2.5 Uncertain significance 0 -165368 Simple 73583199 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -165370 Simple 144343770 C . Uncertain significance 2 4 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2017-01-05 -1.17 1.25 Uncertain significance 0 -165371 Simple 542600464 T . Uncertain significance 2 2 not specified 2016-08-29 -0.51 2.5 Uncertain significance 0 -165375 Simple 35033501 T . Benign 2 5 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-08-10 -27.6 1.6 Benign 0 -165376 Simple 181612536 A . Benign/Likely benign 2 6 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-07-31 -19.8 1.3333333333333333 Benign/Likely benign 0 -165377 Simple 371500615 A . Likely benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-07-07 -4.8 2.5 Likely benign 0 -165379 Simple 33959226 C . Benign/Likely benign 2 6 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-08-02 -21.6 1.3333333333333333 Benign/Likely benign 0 -165380 Simple 148549782 T . Benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-07-16 -9.6 2.5 Benign/Likely benign 1 -165402 Simple 200415824 T . Uncertain significance 2 2 not specified 2015-12-22 -0.48 3.0 Uncertain significance 0 -165406 Simple 150883816 A . Benign/Likely benign 2 2 not specified 2016-05-31 -7.8 3.0 Likely benign 1 -165408 Simple 17062723 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -165414 Simple 116545275 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -165415 Simple 75668442 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -165416 Simple 75450131 G . Benign 2 2 not specified 2015-02-23 -8.4 4.0 Benign/Likely benign 1 -165417 Simple 149659876 C . Likely benign 2 2 not specified 2016-08-27 -5.4 2.0 Likely benign 0 -165420 Simple 369972534 T . Likely benign 2 1 not specified 2013-09-07 . 4.0 . 0 -165425 Simple 61753629 C . Benign 2 2 not specified 2016-04-04 -9.6 3.0 Benign/Likely benign 1 -165451 Simple 182351748 C . Uncertain significance 2 3 not specified;not provided 2015-07-01 -0.75 2.6666666666666665 Uncertain significance 0 -165456 Simple 532872056 T . Likely benign 2 2 not specified 2016-07-08 -5.4 2.0 Likely benign 0 -165458 Simple 141675061 A . Likely benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiovascular phenotype 2017-03-08 -10.8 1.75 Benign/Likely benign 1 -165460 Simple 189895472 T . Uncertain significance 2 2 not specified 2016-02-25 -0.54 2.0 Uncertain significance 0 -165470 Simple 34301677 A . Uncertain significance 2 2 Loeys-Dietz syndrome 2;not specified 2017-05-03 -0.54 1.5 Uncertain significance 0 -165492 Simple 727503493 - . Pathogenic 2 3 Nonsyndromic hearing loss and deafness;not provided;Nonsyndromic Hearing Loss, Recessive 2016-12-02 17.4 1.3333333333333333 Pathogenic 0 -165493 Simple 142519988 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1Z;Familial hypertrophic cardiomyopathy 13;not specified;Cardiovascular phenotype 2017-03-10 -11.7 1.0 Benign/Likely benign 0 -165516 Simple 727503503 T . Pathogenic/Likely pathogenic 2 3 Cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-05-04 16.8 1.0 Pathogenic 1 -165520 Simple 727503506 G . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy 2016-05-23 -1.05 2.25 Uncertain significance 0 -165549 Simple 727503513 A . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 2;Familial restrictive cardiomyopathy;not provided 2017-08-21 14.1 1.3333333333333333 Pathogenic/Likely pathogenic 0 -165566 Simple 727503517 C . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-30 -0.54 1.5 Uncertain significance 0 -165582 Simple 199646135 G . Benign 2 2 not specified 2015-01-22 -8.4 4.0 Benign/Likely benign 1 -165660 Simple 372788551 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-15 -5.4 2.0 Likely benign 0 -165664 Simple 200166942 C . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-19 -2.91 1.1 Uncertain significance 0 -165672 Simple 56398525 C . Benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-12 -22.2 1.5 Benign/Likely benign 1 -165678 Simple 727503538 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-25 -0.54 2.0 Uncertain significance 0 -165690 Simple 727503539 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2014-07-25 -0.44999999999999996 3.5 Uncertain significance 0 -165695 Simple 571147766 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-27 -11.4 1.6666666666666667 Benign/Likely benign 0 -165704 Simple 572401798 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-13 -19.5 1.5 Benign/Likely benign 0 -165705 Simple 727503541 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-23 -0.54 1.5 Uncertain significance 0 -165716 Simple 727503544 T . Uncertain significance 2 2 not specified 2014-06-09 -0.44999999999999996 3.5 Uncertain significance 0 -165717 Simple 727503545 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-25 -0.84 1.6666666666666667 Uncertain significance 0 -165720 Simple 727503547 CTGCTAGA . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-04-28 8.4 1.5 Pathogenic/Likely pathogenic 0 -165721 Simple 727503548 A . Uncertain significance 2 2 not specified 2016-07-18 -0.54 2.0 Uncertain significance 0 -165735 Simple 200141081 T . Uncertain significance 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.76 1.8 Uncertain significance 0 -165736 Simple 370541682 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-31 -0.54 1.5 Uncertain significance 0 -165751 Simple 199505541 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2016-06-01 -0.75 2.6666666666666665 Uncertain significance 0 -165761 Simple 200639218 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-25 -0.75 2.3333333333333335 Uncertain significance 0 -165766 Simple 189202799 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-08-04 -11.7 1.0 Benign/Likely benign 0 -165798 Simple 727503556 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-05-22 -0.54 2.0 Uncertain significance 0 -165801 Simple 727503557 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2014-07-01 6.6 3.5 Likely pathogenic 1 -165810 Simple 727503559 . . Likely pathogenic 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G 2016-04-03 5.1 2.5 Likely pathogenic 0 -165833 Simple 374494927 A . Uncertain significance 2 2 not specified 2017-04-03 -0.54 1.5 Uncertain significance 0 -165854 Simple 149075285 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -14.4 1.0 Benign/Likely benign 0 -165855 Simple 727503567 T . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2014-08-21 6.6 3.5 Likely pathogenic 1 -165860 Simple 367914610 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-28 -0.51 2.0 Uncertain significance 0 -165865 Simple 727503572 T . Uncertain significance 2 2 not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -165869 Simple 371678190 A . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-08-14 8.7 1.0 Pathogenic/Likely pathogenic 0 -165870 Simple 727503573 A . Uncertain significance 2 2 not specified 2014-04-14 -0.48 3.0 Uncertain significance 0 -165879 Simple 199583938 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-10 -0.84 1.6666666666666667 Uncertain significance 0 -165880 Simple 200146608 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-29 -0.84 1.3333333333333333 Uncertain significance 0 -165883 Simple 727503577 G . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.25 1.625 Uncertain significance 0 -165886 Simple 374656017 T . Uncertain significance 2 4 not specified;Cardiovascular phenotype 2017-05-23 -1.02 2.25 Uncertain significance 0 -165887 Simple 371081043 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-11 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -165891 Simple 200155485 A . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-08 -2.88 1.2 Uncertain significance 0 -165907 Simple 374727686 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-03 -0.81 1.6666666666666667 Uncertain significance 0 -165915 Simple 562680371 T . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.31 1.375 Uncertain significance 0 -165916 Simple 727503586 T . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2016-02-29 7.800000000000001 2.5 Likely pathogenic 1 -165919 Simple 727503587 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-12 -0.54 1.5 Uncertain significance 0 -165922 Simple 527704660 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-01 -0.51 2.0 Uncertain significance 0 -165924 Simple 201167216 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-08 -13.2 1.75 Benign/Likely benign 0 -165933 Simple 727503588 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-25 -0.75 2.6666666666666665 Uncertain significance 0 -165947 Simple 373527448 A . Uncertain significance 2 2 not specified 2014-08-07 -0.48 3.0 Uncertain significance 0 -165948 Simple 368025965 G . Uncertain significance 2 2 not specified 2015-07-10 -0.51 2.5 Uncertain significance 0 -165950 Simple 554555894 G . Likely benign 2 2 not specified 2017-03-20 -5.4 1.5 Likely benign 0 -165951 Simple 200778464 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-17 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -165952 Simple 727503591 G . Uncertain significance 2 2 not specified 2016-05-18 -0.51 2.5 Uncertain significance 0 -165954 Simple 373552048 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-28 -5.1 2.0 Likely benign 0 -165957 Simple 372019333 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-08 -16.2 1.75 Benign/Likely benign 0 -165959 Simple 576158850 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-07-12 -0.51 2.5 Uncertain significance 0 -165965 Simple 115867512 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-07 -0.51 2.5 Uncertain significance 0 -165967 Simple 377164046 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-17 -10.5 2.0 Benign/Likely benign 0 -165968 Simple 727503600 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-20 -0.51 2.0 Uncertain significance 0 -165970 Simple 201510986 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -0.84 1.3333333333333333 Uncertain significance 0 -165971 Simple 190830121 C . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-17 -19.2 2.0 Benign/Likely benign 0 -165972 Simple 377512675 G . Uncertain significance 2 2 not specified;not provided 2013-09-19 -0.42 4.0 Uncertain significance 0 -165974 Simple 375343798 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -10.5 1.6666666666666667 Benign/Likely benign 0 -165975 Simple 727503602 T . Likely pathogenic 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G 2015-11-05 5.4 2.0 Likely pathogenic 0 -165977 Simple 190574498 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-03 -0.51 2.5 Uncertain significance 0 -165978 Simple 200968679 G . Uncertain significance 2 2 not specified;not provided 2015-08-04 -0.51 2.5 Uncertain significance 0 -165979 Simple 727503603 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -0.51 2.0 Uncertain significance 0 -165980 Simple 727503604 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-25 -1.02 2.5 Uncertain significance 0 -165982 Simple 200100660 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-04 -0.51 2.0 Uncertain significance 0 -165985 Simple 727503607 A . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2015-04-02 6.9 3.0 Likely pathogenic 1 -165992 Simple 549478203 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-10 -0.75 2.3333333333333335 Uncertain significance 0 -166000 Simple 369648778 A . Uncertain significance 2 2 not specified 2016-09-17 -0.54 2.0 Uncertain significance 0 -166001 Simple 368846015 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-03 -0.51 2.0 Uncertain significance 0 -166004 Simple 72677250 G . Uncertain significance 2 2 not specified 2014-10-09 -0.44999999999999996 3.5 Uncertain significance 0 -166006 Simple 727503619 G . Uncertain significance 2 2 not specified 2015-12-01 -0.51 2.5 Uncertain significance 0 -166007 Simple 138896856 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-02 -0.54 1.5 Uncertain significance 0 -166024 Simple 727503622 T . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-26 -2.58 1.3333333333333333 Uncertain significance 0 -166025 Simple 727503623 C . Uncertain significance 2 2 not specified 2013-11-01 -0.39 4.5 Uncertain significance 0 -166074 Simple 191699632 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-31 -0.81 1.6666666666666667 Uncertain significance 0 -166076 Simple 571348685 T . Uncertain significance 2 2 not specified 2016-07-14 -0.54 2.0 Uncertain significance 0 -166092 Simple 371945519 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2015-11-21 -10.5 2.3333333333333335 Benign/Likely benign 0 -166102 Simple 727503634 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-21 -0.51 2.5 Uncertain significance 0 -166105 Simple 201120871 A . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-11 -1.1099999999999999 1.25 Uncertain significance 0 -166117 Simple 368538884 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-06 -0.81 1.6666666666666667 Uncertain significance 0 -166124 Simple 79685525 A . Benign 2 2 not specified 2014-11-03 -8.4 4.0 Benign/Likely benign 1 -166131 Simple 727503641 C . Uncertain significance 2 2 not specified 2015-08-17 -0.48 3.0 Uncertain significance 0 -166134 Simple 189431308 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-26 -0.54 2.0 Uncertain significance 0 -166135 Simple 727503642 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-03 -5.7 1.5 Likely benign 0 -166143 Simple 199525540 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -22.8 1.4 Benign/Likely benign 0 -166148 Simple 727503645 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -166149 Simple 727503646 T . Uncertain significance 2 2 not specified 2016-05-18 -0.51 2.5 Uncertain significance 0 -166217 Simple 151057960 A . Likely benign 2 2 not specified 2017-08-18 -4.8 2.5 Likely benign 0 -166218 Simple 146353237 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-04-27 -12.0 3.0 Benign/Likely benign 0 -166222 Simple 544241749 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-18 -10.2 2.3333333333333335 Benign/Likely benign 0 -166225 Simple 372740215 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-07 -5.1 2.5 Likely benign 0 -166226 Simple 371552518 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-15 -0.87 1.3333333333333333 Uncertain significance 0 -166227 Simple 727503652 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-10 -0.99 2.5 Uncertain significance 0 -166233 Simple 727503655 C . Uncertain significance 2 2 not specified 2017-01-26 -0.54 2.0 Uncertain significance 0 -166234 Simple 727503656 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-14 -0.54 1.5 Uncertain significance 0 -166238 Simple 112009206 T . Uncertain significance 2 2 not specified 2016-10-20 -0.51 2.5 Uncertain significance 0 -166240 Simple 565546452 G . Benign/Likely benign 2 2 not specified 2015-06-01 -7.800000000000001 2.5 Likely benign 1 -166247 Simple 148430495 A . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2014-10-08 -0.48 3.0 Uncertain significance 0 -166248 Simple 148147002 T . Uncertain significance 2 2 not specified 2014-05-01 -0.44999999999999996 3.5 Uncertain significance 0 -166251 Simple 200376564 G . Uncertain significance 2 2 not specified;not provided 2014-08-13 -0.44999999999999996 3.5 Uncertain significance 0 -166253 Simple 62179016 T . Uncertain significance 2 3 not specified;not provided 2015-04-02 -0.72 3.0 Uncertain significance 0 -166256 Simple 565101305 A . Uncertain significance 2 2 not specified 2015-08-07 -0.48 3.0 Uncertain significance 0 -166259 Simple 144905085 C . Likely benign 2 2 not specified;not provided 2013-06-24 -3.9000000000000004 4.5 Uncertain significance 2 -166260 Simple 140366460 C . Uncertain significance 2 2 not specified;not provided 2014-03-14 -0.44999999999999996 3.5 Uncertain significance 0 -166261 Simple 147513899 A . Benign/Likely benign 2 2 not specified 2015-04-09 -7.5 2.5 Likely benign 1 -166266 Simple 144226338 C . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.42 4.0 Uncertain significance 0 -166275 Simple 562658562 G . Uncertain significance 2 2 not specified;not provided 2014-03-21 -0.44999999999999996 3.5 Uncertain significance 0 -166281 Simple 142585268 G . Benign/Likely benign 2 2 not specified 2014-10-29 -7.199999999999999 3.0 Likely benign 1 -166284 Simple 201047740 A . Uncertain significance 2 2 not specified 2015-03-31 -0.48 3.0 Uncertain significance 0 -166289 Simple 201735487 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-26 -10.8 1.0 Benign/Likely benign 0 -166290 Simple 727503678 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-27 -0.54 1.5 Uncertain significance 0 -166292 Simple 201379132 A . Uncertain significance 2 2 not specified 2017-05-24 -0.51 2.0 Uncertain significance 0 -166304 Simple 72647883 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-03 -5.1 2.0 Likely benign 0 -166310 Simple 145039979 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-04-14 -0.87 1.0 Uncertain significance 0 -166313 Simple 143265948 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-10 -12.600000000000001 2.5 Benign/Likely benign 0 -166316 Simple 367700246 A . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-03 -2.52 1.5555555555555556 Uncertain significance 0 -166318 Simple 139192633 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-03-03 -11.4 1.6666666666666667 Benign/Likely benign 0 -166329 Simple 149883066 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-01 -0.54 2.0 Uncertain significance 0 -166336 Simple 727503701 - . Uncertain significance 2 2 not specified 2015-09-11 -0.48 3.0 Uncertain significance 0 -166348 Simple 141617218 A . Likely benign 2 2 not specified 2016-12-20 -5.1 2.5 Likely benign 0 -166349 Simple 727503705 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-28 -0.51 2.0 Uncertain significance 0 -166355 Simple 144716589 T . Benign/Likely benign 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-06 -37.8 1.2 Benign 1 -166359 Simple 727503709 T . Uncertain significance 2 2 not specified 2014-04-14 -0.48 3.0 Uncertain significance 0 -166360 Simple 72647842 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-07 -15.9 2.0 Benign/Likely benign 0 -166364 Simple 11541797 T . Benign/Likely benign 2 5 Amyloidogenic transthyretin amyloidosis;not specified;Cardiovascular phenotype 2017-08-02 -17.1 1.0 Benign/Likely benign 0 -166377 Simple 139996942 A . Benign 2 2 not specified 2016-01-20 -9.0 3.5 Benign/Likely benign 1 -166428 Simple 727503715 - . Pathogenic 2 2 Usher syndrome, type 2A;not provided;Retinal dystrophy 2017-04-27 10.8 1.5 Pathogenic/Likely pathogenic 1 -166439 Simple 138803855 T . Benign 2 2 not specified 2016-04-08 -10.8 2.0 Benign/Likely benign 1 -166467 Simple 139100097 C . Benign 2 2 not specified 2016-04-08 -9.6 3.0 Benign/Likely benign 1 -166499 Simple 150982499 C . Uncertain significance 2 3 not specified 2017-08-11 -0.75 2.3333333333333335 Uncertain significance 0 -166504 Simple 727503731 TT . Pathogenic 2 3 Usher syndrome, type 2A;Retinitis pigmentosa;not provided 2016-06-15 15.600000000000001 2.3333333333333335 Pathogenic 0 -166510 Simple 727503734 G . Uncertain significance 2 2 not specified;not provided 2016-10-31 -0.51 2.5 Uncertain significance 0 -166535 Simple 144080529 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1W;not specified 2017-06-10 -12.6 2.0 Benign/Likely benign 0 -166538 Simple 201020802 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1W;not specified 2017-07-25 -13.5 2.0 Benign/Likely benign 0 -166541 Simple 727503737 G . Likely benign 2 2 not specified 2017-01-04 -5.4 2.0 Likely benign 0 -166542 Simple 201361282 T . Uncertain significance 2 2 not specified;not provided 2014-01-24 -0.42 4.0 Uncertain significance 0 -166543 Simple 144146254 G . Uncertain significance 2 4 Dilated cardiomyopathy 1W;not specified;not provided 2017-07-20 -1.02 2.25 Uncertain significance 0 -166551 Simple 565398652 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-02-09 -0.78 2.3333333333333335 Uncertain significance 0 -166555 Simple 566296495 T . Likely benign 2 2 Dilated cardiomyopathy 1W;not specified 2016-12-27 -5.4 2.0 Likely benign 0 -166566 Simple 71539660 A . Benign 2 2 not specified 2015-07-21 -10.2 2.5 Benign/Likely benign 1 -166569 Simple 35216268 T . Benign 2 2 not specified 2015-04-09 -9.0 3.5 Benign/Likely benign 1 -166577 Simple 145677667 A . Uncertain significance 2 2 not specified 2016-08-04 -0.51 2.5 Uncertain significance 0 -166588 Simple 565697340 T . Likely benign 2 2 not specified 2016-02-08 -4.800000000000001 3.0 Likely benign 0 -166590 Simple 148310584 T . Benign/Likely benign 2 2 not specified 2015-08-10 -7.5 2.5 Likely benign 1 -166591 Simple 35789242 T . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2017-05-22 -12.6 1.75 Benign/Likely benign 0 -166592 Simple 201557396 T . Uncertain significance 2 2 not specified 2014-10-27 -0.44999999999999996 3.5 Uncertain significance 0 -166595 Simple 71530906 T . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -16.2 1.75 Benign/Likely benign 0 -166601 Simple 147262416 A . Likely benign 2 2 not specified 2016-06-06 -5.1 2.5 Likely benign 0 -166607 Simple 201102144 T . Likely benign 2 2 not specified 2016-11-23 -4.8 3.0 Likely benign 0 -166609 Simple 373310972 C . Uncertain significance 2 2 not specified;Monogenic diabetes 2015-07-10 -0.51 2.5 Uncertain significance 0 -166614 Simple 71526454 A . Likely benign 2 2 not specified 2016-10-06 -5.4 2.0 Likely benign 0 -166617 Simple 145483148 G . Uncertain significance 2 2 Stargardt disease 1;not specified 2016-01-01 -0.51 2.5 Uncertain significance 0 -166622 Simple 2032582 C . drug response 3 1 not specified;ondansetron response - Efficacy;simvastatin response - Efficacy . . 4.0 . 0 -166625 Simple 201568579 A . Pathogenic 2 2 Adrenoleukodystrophy;not provided 2016-12-13 10.2 2.5 Pathogenic/Likely pathogenic 1 -166626 Simple 150346282 A . Pathogenic/Likely pathogenic 2 2 Adrenoleukodystrophy 2017-07-11 7.8 1.5 Likely pathogenic 1 -166627 Simple 76637913 T . Benign/Likely benign 2 3 Adrenoleukodystrophy;not specified 2017-07-14 -13.8 1.3333333333333333 Benign/Likely benign 0 -166635 Simple 1680778 C . Benign 2 2 Acyl-CoA dehydrogenase family, member 9, deficiency of;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -166636 Simple 1683787 G . Benign 2 2 Acyl-CoA dehydrogenase family, member 9, deficiency of;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -166637 Simple 6145976 GGGCGTGCAGGACGCGGGCGTGCAGGACGC . Benign 2 2 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -166638 Simple 727503788 A . Pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2016-11-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -166647 Simple 146379816 T . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2015-11-16 -0.48 3.0 Uncertain significance 0 -166648 Simple 113348145 G . Benign/Likely benign 2 2 Deficiency of acetyl-CoA acetyltransferase;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -166649 Simple 727503795 - . Pathogenic 2 2 Deficiency of acetyl-CoA acetyltransferase;not provided 2016-11-15 10.2 2.5 Pathogenic/Likely pathogenic 1 -166655 Simple 8075035 C . Benign/Likely benign 2 4 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -166657 Simple 150996735 T . Benign/Likely benign 2 2 not specified 2015-04-23 -7.5 2.5 Likely benign 1 -166664 Simple 146416468 T . Benign/Likely benign 2 3 Joubert syndrome;not specified 2015-10-29 -15.600000000000001 2.3333333333333335 Benign/Likely benign 0 -166667 Simple 1800280 T . Benign 2 3 not specified 2017-01-27 -16.2 2.0 Benign/Likely benign 1 -166669 Simple 17849848 A . Benign 2 2 not specified 2015-12-14 -10.8 2.0 Benign/Likely benign 1 -166678 Simple 185149177 A . Benign/Likely benign 2 2 not specified 2017-07-31 -7.8 1.5 Likely benign 1 -166685 Simple 117706710 T . Benign/Likely benign 2 2 not specified;not provided 2017-05-30 -7.2 2.0 Likely benign 1 -166701 Simple 189918817 T . Uncertain significance 2 2 not specified 2017-02-09 -0.54 2.0 Uncertain significance 0 -166704 Simple 727503814 C . Pathogenic/Likely pathogenic 2 2 Citrullinemia type I 2015-01-22 7.199999999999999 3.0 Likely pathogenic 1 -166705 Simple 373796693 - . Benign 2 4 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -166706 Simple 1800275 G . Benign 2 2 not specified 2016-03-25 -10.8 2.0 Benign/Likely benign 1 -166709 Simple 2234938 G . Benign 2 4 Menkes kinky-hair syndrome;Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;not specified 2017-06-20 -19.8 2.5 Benign/Likely benign 1 -166714 Simple 61752456 G . Likely benign 2 3 not specified 2017-04-12 -8.4 1.3333333333333333 Benign/Likely benign 1 -166720 Simple 34737974 C . Benign/Likely benign 2 3 Bardet-Biedl syndrome;not specified;not provided 2017-03-24 -13.8 1.3333333333333333 Benign/Likely benign 0 -166721 Simple 35676114 A . Benign/Likely benign 2 4 Bardet-Biedl syndrome;Bardet-Biedl syndrome 10;not specified 2017-06-02 -19.8 1.25 Benign/Likely benign 0 -166723 Simple 727503818 - . Pathogenic/Likely pathogenic 2 3 Bardet-Biedl syndrome;Bardet-Biedl syndrome 10 2014-08-04 12.0 3.0 Pathogenic/Likely pathogenic 0 -166725 Simple 309370 A . Benign 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -166726 Simple 13135766 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -166727 Simple 13135778 A . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -166728 Simple 13135445 T . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -166730 Simple 13102440 G . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -166733 Simple 4777527 T . Benign 2 1 not specified 2013-12-27 . 4.0 . 0 -166740 Simple 116262072 T . Benign 2 2 Bardet-Biedl syndrome;not specified 2017-02-06 -10.8 2.0 Benign/Likely benign 1 -166746 Simple 727503824 G . Uncertain significance 2 2 not specified 2017-06-23 -0.54 1.5 Uncertain significance 0 -166752 Simple 62641693 A . Benign/Likely benign 2 4 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -13.2 1.75 Benign/Likely benign 0 -166753 Simple 56257768 TCCTCCTCCTCCTCCTCC . Benign/Likely benign 2 1 not specified 2014-04-16 . 3.0 . 0 -166762 Simple 1790765 T . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -166765 Simple 727503832 T . Uncertain significance 2 2 not specified 2017-08-16 -0.51 2.0 Uncertain significance 0 -166766 Simple 150378053 A . Benign/Likely benign 2 3 not specified 2017-03-16 -11.7 1.0 Benign/Likely benign 0 -166772 Simple 111442547 A . Uncertain significance 2 3 Timothy syndrome;Brugada syndrome;not specified 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -166773 Simple 727503835 T . Uncertain significance 2 3 Long QT syndrome;not specified 2017-08-03 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -166778 Simple 41312124 T . Benign/Likely benign 2 1 not specified 2013-11-26 . 4.0 . 0 -166780 Simple 6520408 A . Benign 2 1 not specified 2014-04-16 . 3.0 . 0 -166781 Simple 72552054 T . Benign 2 3 Idiopathic generalized epilepsy;not specified;Hyperaldosteronism, familial, type IV 2017-07-28 -16.2 1.3333333333333333 Benign/Likely benign 1 -166782 Simple 78335326 A . Benign/Likely benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -166783 Simple 116214586 C . Benign/Likely benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -166785 Simple 1801324 T . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy, type 2A;not specified 2017-08-02 -16.2 1.6666666666666667 Benign/Likely benign 0 -166786 Simple 727503837 - . Pathogenic 2 4 Limb-girdle muscular dystrophy, type 2A;not provided 2017-06-23 24.0 0.5 Pathogenic 0 -166787 Simple 28364441 T . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy, type 2A;not specified 2017-08-02 -16.2 1.6666666666666667 Benign/Likely benign 0 -166788 Simple 28364467 G . Benign 2 3 Limb-girdle muscular dystrophy, type 2A;not specified 2017-07-11 -16.8 1.3333333333333333 Benign/Likely benign 1 -166790 Simple 141656719 T . Pathogenic 2 5 Limb-girdle muscular dystrophy, type 2A;not provided 2017-06-27 28.8 1.0 Pathogenic 0 -166791 Simple 727503839 T . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2016-09-28 16.8 1.6666666666666667 Pathogenic 0 -166792 Simple 28364538 - . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-15 -16.8 1.25 Benign/Likely benign 0 -166801 Simple 200407856 A . Pathogenic 2 3 Joubert syndrome;Joubert syndrome 9;not provided 2015-07-01 14.4 3.0 Pathogenic/Likely pathogenic 1 -166805 Simple 199688524 A . Uncertain significance 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -166807 Simple 2289527 C . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -166808 Simple 201709592 G . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-03 -11.7 1.0 Benign/Likely benign 0 -166811 Simple 201053044 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-11-13 -1.1099999999999999 1.75 Uncertain significance 0 -166812 Simple 199510686 G . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -166817 Simple 727503844 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2015-11-10 19.8 2.75 Pathogenic 0 -166828 Simple 11405846 AA . Benign 2 5 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified 2016-06-14 -30.0 1.0 Benign 0 -166829 Simple 117852025 G . Benign/Likely benign 2 5 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified;not provided 2017-05-17 -22.5 1.4 Benign/Likely benign 0 -166831 Simple 727503853 - . Pathogenic 2 2 Joubert syndrome 5 2015-02-23 9.0 3.5 Pathogenic/Likely pathogenic 1 -166833 Simple 116469117 T . Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-06-07 -5.4 1.5 Likely benign 0 -166834 Simple 73192874 T . Uncertain significance 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified 2016-06-14 -1.71 1.5 Uncertain significance 0 -166835 Simple 201504946 C . Uncertain significance 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified 2016-06-14 -1.74 1.3333333333333333 Uncertain significance 0 -166838 Simple 188164241 T . Likely benign 2 4 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-11-06 -11.4 0.75 Benign/Likely benign 1 -166839 Simple 71082425 C . Benign 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified 2016-06-14 -34.8 1.3333333333333333 Benign 0 -166840 Simple 199790246 C . Uncertain significance 2 2 not specified 2017-07-14 -0.5700000000000001 1.0 Uncertain significance 0 -166841 Simple 373913704 T . Uncertain significance 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-07-10 -0.51 2.0 Uncertain significance 0 -166842 Simple 228406 C . Benign 2 2 not specified 2016-04-25 -10.8 2.0 Benign/Likely benign 1 -166843 Simple 146913105 A . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -166844 Simple 10180793 A . Benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -166846 Simple 13003064 T . Benign 2 1 not specified 2014-04-26 . 3.0 . 0 -166848 Simple 6433923 T . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -166849 Simple 1473295 A . Benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -166850 Simple 727503857 G . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.51 2.5 Uncertain significance 0 -166856 Simple 149882431 A . Benign/Likely benign 2 2 not specified 2015-12-14 -8.100000000000001 2.0 Likely benign 1 -166861 Simple 786200968 TT . Benign/Likely benign 2 4 not specified;not provided 2016-09-02 -14.1 2.75 Benign/Likely benign 0 -166867 Simple 149428656 C . Uncertain significance 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B 2017-05-23 -1.17 1.0 Uncertain significance 0 -166871 Simple 61733871 T . Benign 2 3 not specified;Spastic paraplegia 2016-03-04 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -166875 Simple 786200970 CAGCAG . Benign/Likely benign 2 4 not specified;Cardiovascular phenotype 2017-08-31 -16.2 1.5 Benign/Likely benign 0 -166888 Simple 28642966 T . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -166892 Simple 2303785 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.2 2.5 Likely benign 1 -166894 Simple 413562 C . Benign 2 3 not specified;Retinitis Pigmentosa, Recessive 2017-01-05 -16.2 2.0 Benign/Likely benign 1 -166895 Simple 437920 A . Benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -166897 Simple 727503872 T . Uncertain significance 2 2 not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -166899 Simple 3735972 C . Benign/Likely benign 2 4 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-07-19 -16.8 1.5 Benign/Likely benign 0 -166903 Simple 3735970 C . Benign/Likely benign 2 4 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-07-19 -16.8 1.5 Benign/Likely benign 0 -166904 Simple 146307965 G . Benign/Likely benign 2 3 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-03-09 -14.4 1.0 Benign/Likely benign 0 -166907 Simple 200866893 A . Uncertain significance 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;not provided 2017-08-10 -1.14 0.75 Uncertain significance 0 -166909 Simple 142349647 T . Uncertain significance 2 5 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2016-06-14 -1.41 1.6 Uncertain significance 0 -166911 Simple 368470905 G . Uncertain significance 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2016-06-14 -1.05 2.25 Uncertain significance 0 -166914 Simple 727503878 T . Uncertain significance 2 2 not specified 2014-12-16 -0.44999999999999996 3.5 Uncertain significance 0 -166919 Simple 34555836 T . Benign/Likely benign 2 4 Congenital disorder of glycosylation;not specified;not provided 2017-05-30 -16.8 1.25 Benign/Likely benign 0 -166921 Simple 187171126 A . Benign/Likely benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -166928 Simple 9306146 C . Benign/Likely benign 2 2 not specified 2017-11-09 -7.8 1.5 Likely benign 1 -166929 Simple 200023632 T . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -166931 Simple 535007570 C . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -166933 Simple 61735830 C . Benign/Likely benign 2 6 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-07-14 -20.4 1.0 Benign/Likely benign 0 -166935 Simple 141021828 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-09-07 -16.8 1.2 Benign/Likely benign 0 -166936 Simple 112928650 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -19.2 1.5 Benign/Likely benign 0 -166939 Simple 116690555 A . Benign/Likely benign 2 2 Collagen VI-related myopathy;not specified 2016-07-15 -9.0 1.0 Benign/Likely benign 0 -166943 Simple 144223596 A . Uncertain significance 2 4 Bethlem myopathy 1;not specified;not provided 2017-08-17 -1.17 1.0 Uncertain significance 0 -166949 Simple 2072650 T . Benign/Likely benign 2 4 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-11 -16.8 1.5 Benign/Likely benign 0 -166950 Simple 149459564 C . Uncertain significance 2 2 not specified 2017-10-17 -0.54 1.5 Uncertain significance 0 -166953 Simple 727503887 T . Pathogenic/Likely pathogenic 2 3 Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;Carnitine palmitoyltransferase II deficiency 2017-04-24 12.6 2.3333333333333335 Pathogenic/Likely pathogenic 0 -166957 Simple 142224492 T . Benign/Likely benign 2 4 Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-09-15 -15.0 1.0 Benign/Likely benign 0 -166969 Simple 1800440 C . Benign/Likely benign 2 2 not specified;Primary congenital glaucoma 2016-06-14 -7.2 2.5 Likely benign 1 -166970 Simple 1056837 G . Benign 2 2 not specified;Peters anomaly;Primary congenital glaucoma 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -166971 Simple 1056836 G . drug response 3 0 not specified;docetaxel response - Efficacy;paclitaxel response - Efficacy . . . . 0 -166972 Simple 9341249 G . Benign/Likely benign 2 4 Glaucoma, congenital;not specified;Peters anomaly;Primary congenital glaucoma 2017-02-04 -16.8 1.5 Benign/Likely benign 0 -166973 Simple 9341247 T . Benign/Likely benign 2 4 Glaucoma, congenital;not specified;Peters anomaly;Primary congenital glaucoma 2017-05-11 -16.8 1.25 Benign/Likely benign 0 -166974 Simple 2617266 A . Benign/Likely benign 2 3 not specified;Peters anomaly;Primary congenital glaucoma 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -166975 Simple 3817184 T . Benign 2 3 Bietti crystalline corneoretinal dystrophy;not specified;Corneal Dystrophy, Recessive 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -166976 Simple 3736455 G . Benign 2 3 Bietti crystalline corneoretinal dystrophy;not specified;Corneal Dystrophy, Recessive 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -166977 Simple 3736456 C . Benign 2 3 Bietti crystalline corneoretinal dystrophy;not specified;Corneal Dystrophy, Recessive 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -166981 Simple 201117345 - . Benign 2 3 Maple syrup urine disease;not specified 2017-08-07 -15.600000000000001 2.0 Benign/Likely benign 1 -166988 Simple 143312232 C . Likely pathogenic 2 2 Smith-Lemli-Opitz syndrome 2017-02-24 5.1 2.5 Likely pathogenic 0 -166990 Simple 727503897 A . Uncertain significance 2 2 not specified 2017-09-05 -0.51 2.0 Uncertain significance 0 -166992 Simple 145940009 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -166994 Simple 2728532 T . Benign 2 2 not specified 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -166995 Simple 1800533 A . Benign 2 1 not specified 2015-04-28 . 2.0 . 0 -166997 Simple 144018942 G . Uncertain significance 2 3 Primary ciliary dyskinesia;not specified 2017-05-08 -0.84 1.3333333333333333 Uncertain significance 0 -167003 Simple 12655133 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -167006 Simple 531969689 TT . Benign/Likely benign 2 4 Congenital disorder of glycosylation type 1M;not specified;not provided 2017-08-08 -20.4 1.0 Benign/Likely benign 0 -167010 Simple 150887098 A . Uncertain significance 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-05-23 -1.44 1.2 Uncertain significance 0 -167011 Simple 585692 A . Benign 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -28.2 1.6 Benign 0 -167019 Simple 35884879 C . Benign/Likely benign 2 3 Dysferlinopathy;not specified 2017-01-17 -13.2 2.0 Benign/Likely benign 0 -167023 Simple 141536854 T . Benign/Likely benign 2 4 Dysferlinopathy;not specified 2017-01-17 -19.2 1.75 Benign/Likely benign 0 -167026 Simple 727503912 T . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided 2017-02-20 18.6 3.25 Pathogenic 0 -167031 Simple 3748959 C . Benign 2 2 Doyne honeycomb retinal dystrophy;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -167034 Simple 150135875 T . Benign/Likely benign 2 4 Chromosome 9q deletion syndrome;not specified 2017-06-27 -18.6 1.75 Benign/Likely benign 0 -167035 Simple 150451099 A . Benign 2 2 Chromosome 9q deletion syndrome;not specified 2017-07-19 -10.2 2.0 Benign/Likely benign 1 -167036 Simple 78914478 G . Benign/Likely benign 2 2 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -167039 Simple 727503918 G . Pathogenic/Likely pathogenic 2 2 Glutaric aciduria, type 2;not provided 2014-01-17 5.7 4.5 Likely pathogenic 1 -167040 Simple 537038850 T . Uncertain significance 2 2 Glutaric aciduria, type 2;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -167041 Simple 149278633 T . Benign/Likely benign 2 2 not specified 2017-05-03 -7.2 2.0 Likely benign 1 -167043 Simple 60582583 A . Benign 2 5 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-05-30 -28.8 1.2 Benign 0 -167044 Simple 2302075 A . Benign 2 4 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -167050 Simple 182151153 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -167054 Simple 1801374 T . Benign/Likely benign 2 3 not specified;Hypertyrosinemia 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -167055 Simple 111345782 T . Benign/Likely benign 2 2 not specified;Hypertyrosinemia 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -167060 Simple 398123537 AATAAATA . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -167066 Simple 727503927 T . Pathogenic/Likely pathogenic 2 2 Hereditary leiomyomatosis and renal cell cancer 2016-05-17 8.1 2.5 Likely pathogenic 1 -167069 Simple 537001725 A . Pathogenic/Likely pathogenic 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C4;not provided 2016-12-28 7.8 2.0 Likely pathogenic 1 -167070 Simple 148975262 A . Uncertain significance 2 5 Fukuyama congenital muscular dystrophy;not specified;Walker-Warburg congenital muscular dystrophy;Dilated Cardiomyopathy, Recessive 2017-07-21 -1.5 0.6 Uncertain significance 0 -167071 Simple 528000488 A . Uncertain significance 2 3 not specified;Walker-Warburg congenital muscular dystrophy 2017-07-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -167072 Simple 143031195 T . Uncertain significance 2 3 not specified;Walker-Warburg congenital muscular dystrophy 2017-03-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -167073 Simple 112111994 C . Benign/Likely benign 2 3 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -167075 Simple 201663443 C . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-24 -8.4 1.5 Benign/Likely benign 0 -167076 Simple 112682871 C . Benign 2 2 not specified 2014-06-19 -9.6 3.0 Benign/Likely benign 1 -167077 Simple 727503930 T . Uncertain significance 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-03-02 -0.84 1.6666666666666667 Uncertain significance 0 -167085 Simple 2230096 T . Benign 2 2 Axenfeld-Rieger syndrome type 3;not specified 2017-07-19 -10.8 1.5 Benign/Likely benign 1 -167087 Simple 73406891 G . Benign 2 2 Axenfeld-Rieger syndrome type 3;not specified 2017-07-19 -12.0 0.5 Benign/Likely benign 1 -167097 Simple 61732741 T . Benign 2 2 Speech-language disorder 1;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -167106 Simple 143796236 T . Benign 2 2 not specified;not provided 2017-01-10 -10.2 2.5 Benign/Likely benign 1 -167110 Simple 768125567 CGGGCGGCGGGCGG . Benign/Likely benign 2 2 not specified 2017-09-12 -7.2 2.0 Likely benign 1 -167111 Simple 2304845 C . Benign 2 1 not specified 2013-12-06 . 4.0 . 0 -167115 Simple 115705591 T . Benign/Likely benign 2 3 Glycogen storage disease, type II;not specified 2017-07-28 -16.2 1.6666666666666667 Benign/Likely benign 0 -167117 Simple 727503941 - . Uncertain significance 2 2 not specified 2016-07-08 -0.54 2.0 Uncertain significance 0 -167119 Simple 200378205 T . Pathogenic/Likely pathogenic 2 3 Galactosylceramide beta-galactosidase deficiency;not provided 2017-06-30 13.2 1.6666666666666667 Pathogenic/Likely pathogenic 0 -167133 Simple 147611168 A . Pathogenic 2 2 Glutaric aciduria, type 1 2016-10-13 10.2 2.5 Pathogenic/Likely pathogenic 1 -167134 Simple 104894409 A . Pathogenic/Likely pathogenic 2 3 Deafness, autosomal recessive 1A;not specified 2016-12-06 12.6 2.6666666666666665 Pathogenic/Likely pathogenic 0 -167140 Simple 727503949 A . Pathogenic 2 2 Fabry disease 2017-07-25 10.8 1.5 Pathogenic/Likely pathogenic 1 -167149 Simple 8057701 G . Benign/Likely benign 2 2 Nephronophthisis;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -167150 Simple 153477 G . Benign 2 2 Tay-Sachs disease, variant AB;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -167151 Simple 153478 G . Benign 2 2 Tay-Sachs disease, variant AB;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -167152 Simple 1048723 G . Benign 2 2 Tay-Sachs disease, variant AB;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -167153 Simple 56212569 T . Benign/Likely benign 2 4 not specified;not provided;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2016-06-14 -13.5 1.75 Benign/Likely benign 0 -167154 Simple 222504 T . Benign/Likely benign 2 4 I cell disease;Pseudo-Hurler polydystrophy;not specified;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2017-06-02 -16.8 1.25 Benign/Likely benign 0 -167156 Simple 201388114 G . Uncertain significance 2 2 not specified 2017-01-16 -0.54 2.0 Uncertain significance 0 -167160 Simple 35969994 T . Uncertain significance 2 2 not specified;Cone/cone-rod dystrophy 2016-06-14 -0.54 2.0 Uncertain significance 0 -167165 Simple 1051153 T . Benign 2 2 not specified 2016-03-08 -10.8 2.0 Benign/Likely benign 1 -167167 Simple 148932124 C . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-14 -10.2 2.0 Benign/Likely benign 1 -167169 Simple 116042117 A . Benign 2 3 Brugada syndrome 8;not specified 2017-07-31 -16.2 1.6666666666666667 Benign/Likely benign 1 -167171 Simple 202037304 T . Uncertain significance 2 2 not specified;not provided 2014-04-16 -0.44999999999999996 3.5 Uncertain significance 0 -167178 Simple 73675469 A . Benign/Likely benign 2 2 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 -7.2 2.5 Likely benign 1 -167184 Simple 2296435 C . Benign 2 3 Hermansky-Pudlak syndrome;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -167185 Simple 1801287 A . Benign 2 3 Hermansky-Pudlak syndrome;not specified 2016-06-14 -13.8 3.3333333333333335 Benign/Likely benign 1 -167186 Simple 113520308 A . Benign 2 1 not specified 2014-02-26 . 4.0 . 0 -167194 Simple 115640267 T . Benign 2 2 Nephronophthisis;not specified 2017-08-14 -10.8 1.5 Benign/Likely benign 1 -167195 Simple 76868679 A . Benign/Likely benign 2 3 Nephronophthisis;not specified 2017-08-14 -13.8 1.3333333333333333 Benign/Likely benign 0 -167199 Simple 142761835 A . Pathogenic/Likely pathogenic 2 5 Isovaleryl-CoA dehydrogenase deficiency;not provided 2017-09-01 20.4 0.8 Pathogenic 1 -167204 Simple 572827902 GAGGAG . Benign/Likely benign 2 3 Generalized epilepsy and paroxysmal dyskinesia;not specified;not provided 2017-08-01 -12.0 0.3333333333333333 Benign/Likely benign 0 -167205 Simple 1801508 T . Benign/Likely benign 2 3 not specified;KCNQ2-Related Disorders 2016-06-14 -12.600000000000001 2.3333333333333335 Benign/Likely benign 0 -167209 Simple 186159326 A . Benign/Likely benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -167216 Simple 118185564 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -167218 Simple 727503979 A . Pathogenic 2 2 Kabuki syndrome 1;not provided 2017-06-28 10.2 2.0 Pathogenic/Likely pathogenic 1 -167228 Simple 727503987 A . Pathogenic 2 2 Kabuki syndrome 1 2017-11-08 10.8 1.5 Pathogenic/Likely pathogenic 1 -167233 Simple 143382184 G . Benign 2 2 not specified 2014-04-07 -9.0 3.5 Benign/Likely benign 1 -167236 Simple 142277193 A . Benign/Likely benign 2 2 not specified 2016-06-09 -7.2 2.5 Likely benign 1 -167239 Simple 139665175 T . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified 2017-08-17 -13.2 1.3333333333333333 Benign/Likely benign 0 -167243 Simple 149951387 T . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified 2017-06-09 -13.2 1.6666666666666667 Benign/Likely benign 0 -167249 Simple 143026295 T . Benign/Likely benign 2 3 not specified 2016-08-26 -13.2 2.0 Benign/Likely benign 0 -167252 Simple 146078928 T . Uncertain significance 2 2 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified 2016-12-13 -0.51 2.5 Uncertain significance 0 -167255 Simple 1875845 T . Benign/Likely benign 2 2 Leber congenital amaurosis;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -167257 Simple 34068461 G . Benign/Likely benign 2 2 Leber congenital amaurosis;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -167258 Simple 2655655 G . Benign 2 2 Leber congenital amaurosis;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -167264 Simple 35692977 T . Benign/Likely benign 2 2 Mental retardation, autosomal dominant 1;not specified 2016-07-16 -8.4 2.0 Benign/Likely benign 0 -167271 Simple 138794621 T . Uncertain significance 2 2 3 Methylcrotonyl-CoA carboxylase 1 deficiency;not specified 2017-03-23 -0.51 2.0 Uncertain significance 0 -167274 Simple 727504006 C . Pathogenic 2 2 3 Methylcrotonyl-CoA carboxylase 1 deficiency;not provided 2017-12-06 10.2 2.0 Pathogenic/Likely pathogenic 1 -167278 Simple 140806722 A . Uncertain significance 2 3 3-methylcrotonyl CoA carboxylase 2 deficiency;not specified;not provided 2017-10-05 -0.78 2.0 Uncertain significance 0 -167282 Simple 35068602 G . Benign 2 3 FG syndrome;not specified 2017-07-31 -15.0 2.3333333333333335 Benign/Likely benign 1 -167283 Simple 34761462 T . Benign 2 3 FG syndrome;not specified 2017-06-21 -15.0 2.3333333333333335 Benign/Likely benign 1 -167284 Simple 201807437 T . Benign/Likely benign 2 4 FG syndrome;not specified;Cardiovascular phenotype 2017-06-27 -18.6 2.0 Benign/Likely benign 0 -167286 Simple 370275760 A . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -167290 Simple 10205793 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -167291 Simple 144126521 A . Benign/Likely benign 2 2 Renal cell carcinoma, papillary, 1;not specified 2017-06-02 -6.0 0.5 Likely benign 1 -167297 Simple 2510143 G . Benign/Likely benign 2 2 Microphthalmia, isolated 6;Retinal degeneration;not specified;Retinal degeneration 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -167299 Simple 3814762 T . Benign/Likely benign 2 3 Microphthalmia, isolated 6;Retinal degeneration;not specified;Retinal degeneration 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -167305 Simple 139190144 T . Benign/Likely benign 2 4 Congenital disorder of glycosylation type 1B;Congenital disorder of glycosylation;not specified 2017-05-11 -18.6 1.75 Benign/Likely benign 0 -167306 Simple 4846051 A . Benign 2 3 Neural tube defects, folate-sensitive;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -167310 Simple 727504020 A . Pathogenic 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2014-12-22 9.0 3.5 Pathogenic/Likely pathogenic 1 -167318 Simple 78633961 A . Uncertain significance 2 5 Spheroid body myopathy;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2017-08-01 -1.44 1.2 Uncertain significance 0 -167326 Simple 727504031 A . Pathogenic 2 3 Familial exudative vitreoretinopathy, X-linked;Atrophia bulborum hereditaria 2015-11-12 15.0 2.6666666666666665 Pathogenic 0 -167327 Simple 201028196 G . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2016-12-23 -0.5700000000000001 1.5 Uncertain significance 0 -167337 Simple 12618063 A . Benign 2 2 not specified 2016-01-28 -9.600000000000001 3.0 Benign/Likely benign 1 -167342 Simple 200585609 A . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-06-06 -0.54 1.5 Uncertain significance 0 -167347 Simple 2071848 A . Benign 2 2 Nance-Horan syndrome;not specified 2016-12-13 -10.2 2.5 Benign/Likely benign 1 -167349 Simple 149892167 C . Uncertain significance 2 2 not specified 2017-05-10 -0.51 2.0 Uncertain significance 0 -167363 Simple 144914894 G . Benign/Likely benign 2 3 not specified;not provided 2017-03-03 -13.8 1.6666666666666667 Benign/Likely benign 0 -167373 Simple 183885357 T . Benign 2 2 Nephronophthisis;not specified 2015-08-28 -10.2 2.5 Benign/Likely benign 1 -167374 Simple 138025088 A . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -167380 Simple 78527322 T . Benign/Likely benign 2 6 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified 2017-08-02 -25.8 1.1666666666666667 Benign 1 -167384 Simple 1805020 G . Benign/Likely benign 2 4 Enhanced s-cone syndrome;not specified;Retinitis Pigmentosa, Recessive 2017-03-19 -16.2 1.5 Benign/Likely benign 0 -167385 Simple 1805021 C . Benign/Likely benign 2 4 Enhanced s-cone syndrome;not specified;Retinitis Pigmentosa, Recessive 2017-03-19 -16.2 1.5 Benign/Likely benign 0 -167386 Simple 8009051 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -167387 Simple 200074974 C . Uncertain significance 2 3 not specified 2017-10-06 -0.81 1.6666666666666667 Uncertain significance 0 -167390 Simple 200792504 C . Uncertain significance 2 6 Pitt-Hopkins-like syndrome 2;Schizophrenia 17;not specified;Pitt-Hopkins-like syndrome 2017-05-24 -1.68 1.1666666666666667 Uncertain significance 0 -167396 Simple 9422807 C . Benign 2 2 Ornithine aminotransferase deficiency;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -167401 Simple 727504059 A . Pathogenic 2 2 Dominant hereditary optic atrophy;Ocular impairment 2017-07-24 11.4 1.0 Pathogenic/Likely pathogenic 1 -167405 Simple 140606054 A . Uncertain significance 2 2 not specified 2017-11-03 -0.51 2.0 Uncertain significance 0 -167411 Simple 78432029 A . Benign/Likely benign 2 2 Succinyl-CoA acetoacetate transferase deficiency;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -167412 Simple 76956231 A . Benign 2 2 not specified 2015-12-15 -9.600000000000001 3.0 Benign/Likely benign 1 -167423 Simple 786200983 TT . Pathogenic 2 3 Propionic acidemia;not provided 2017-07-24 16.2 1.6666666666666667 Pathogenic 0 -167425 Simple 557936064 - . Benign 2 2 not specified 2015-06-11 -10.2 2.5 Benign/Likely benign 1 -167430 Simple 138868039 C . Uncertain significance 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2017-03-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -167439 Simple 537010934 A . Benign/Likely benign 2 3 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -10.2 2.0 Benign/Likely benign 0 -167440 Simple 727504075 A . Pathogenic 2 2 Retinitis pigmentosa;Retinitis pigmentosa 40 2015-10-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -167442 Simple 200236628 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -167445 Simple 200752969 T . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -167453 Simple 2128414 T . Benign/Likely benign 2 2 Zellweger syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -167454 Simple 11539794 T . Benign/Likely benign 2 2 Zellweger syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -167457 Simple 117472525 T . Benign/Likely benign 2 2 Zellweger syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -167458 Simple 3762000 G . Benign 2 1 not specified 2014-03-19 . 3.0 . 0 -167463 Simple 35830695 A . Benign/Likely benign 2 2 Zellweger syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -167472 Simple 148191851 T . Benign/Likely benign 2 8 Anterior segment mesenchymal dysgenesis;Iridogoniodysgenesis, dominant type;Ring dermoid of cornea;not specified;Cataract;Peters anomaly;PITX2-Related Eye Abnormalities;Axenfeld-Rieger Syndrome 2016-06-14 -25.8 1.25 Benign 1 -167473 Simple 78518523 T . Uncertain significance 2 2 not specified 2016-08-23 -0.6 1.0 Uncertain significance 0 -167474 Simple 139014478 T . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2017-04-28 -16.2 1.6666666666666667 Benign/Likely benign 1 -167476 Simple 143526199 C . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-08-10 -10.2 2.0 Benign/Likely benign 1 -167477 Simple 146519878 G . Benign/Likely benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-04-16 -9.0 0.5 Benign/Likely benign 0 -167479 Simple 45503297 A . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2017-06-30 -11.1 1.6666666666666667 Benign/Likely benign 0 -167480 Simple 116098879 C . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-08-10 -10.2 2.0 Benign/Likely benign 1 -167482 Simple 111383080 T . Benign 2 1 not specified 2014-01-14 . 4.0 . 0 -167483 Simple 76895755 A . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-02-27 -10.2 2.5 Benign/Likely benign 1 -167486 Simple 746838237 TT . Pathogenic 2 3 Autosomal recessive polycystic kidney disease 2017-05-08 17.4 1.0 Pathogenic 0 -167488 Simple 9689306 G . Benign/Likely benign 2 4 Autosomal recessive polycystic kidney disease;not specified 2017-06-29 -19.2 1.5 Benign/Likely benign 0 -167489 Simple 41273726 C . Benign/Likely benign 2 5 Autosomal recessive polycystic kidney disease;not specified;not provided 2017-05-30 -18.0 2.2 Benign/Likely benign 0 -167504 Simple 200273549 T . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-28 -17.4 0.6666666666666666 Benign/Likely benign 1 -167508 Simple 200575795 A . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy 2017-09-12 -17.4 0.5 Benign/Likely benign 0 -167509 Simple 62642466 T . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -16.8 1.3333333333333333 Benign/Likely benign 1 -167520 Simple 3739494 C . Benign 2 2 not specified 2014-11-26 -9.0 3.5 Benign/Likely benign 1 -167521 Simple 727504102 - . Benign 2 4 Progressive sclerosing poliodystrophy;not specified 2017-08-22 -21.6 1.75 Benign/Likely benign 1 -167522 Simple 41550117 TGCTGC . Benign/Likely benign 2 3 not specified 2015-07-10 -11.7 3.0 Benign/Likely benign 0 -167523 Simple 752180824 - . Benign/Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-07-31 -8.1 2.0 Likely benign 1 -167529 Simple 78529026 T . Benign/Likely benign 2 3 not specified 2017-07-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -167532 Simple 727504106 T . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -167533 Simple 200589374 C . Uncertain significance 2 2 not specified 2017-04-05 -0.51 2.0 Uncertain significance 0 -167537 Simple 655240 C . Benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -167542 Simple 361524 A . Benign/Likely benign 2 7 Patterned dystrophy of retinal pigment epithelium;not specified;Vitelliform macular dystrophy;Fundus albipunctatus;Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant 2016-06-14 -22.8 1.2857142857142858 Benign/Likely benign 0 -167548 Simple 727504112 A . Uncertain significance 2 2 Gorlin syndrome;not specified 2017-01-21 -0.51 2.5 Uncertain significance 0 -167550 Simple 727504114 G . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-04-24 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -167555 Simple 35068024 - . Benign 2 2 not specified 2016-03-29 -10.8 2.0 Benign/Likely benign 1 -167562 Simple 142415050 A . Likely benign 2 2 not specified 2014-12-16 -4.8 3.0 Likely benign 0 -167566 Simple 9535023 T . Benign/Likely benign 2 4 Retinoblastoma;not specified 2017-06-09 -21.0 0.75 Benign/Likely benign 0 -167577 Simple 148509350 T . Benign 2 3 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-07-11 -16.8 1.3333333333333333 Benign/Likely benign 1 -167578 Simple 144728023 T . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-07-19 -19.8 1.25 Benign/Likely benign 0 -167580 Simple 201627577 T . Uncertain significance 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-03-17 -0.54 1.5 Uncertain significance 0 -167581 Simple 114807343 T . Benign/Likely benign 2 4 Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7 2017-06-26 -13.2 1.25 Benign/Likely benign 0 -167602 Simple 444772 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -167609 Simple 150987618 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -167620 Simple 150388417 A . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-05 -31.2 1.25 Benign 1 -167623 Simple 4802583 G . Benign 2 2 not specified 2016-02-17 -10.2 2.5 Benign/Likely benign 1 -167629 Simple 372661934 A . Benign/Likely benign 2 6 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-07-06 -23.4 2.0 Benign/Likely benign 0 -167632 Simple 201371633 C . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -167634 Simple 74356516 T . Benign/Likely benign 2 3 Oguchi's disease;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -167636 Simple 375593027 T . Uncertain significance 2 3 Oguchi's disease;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -167639 Simple 727504136 A . Pathogenic 2 5 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided 2017-05-30 24.0 2.8 Pathogenic 0 -167652 Simple 13341114 T . Benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-06-14 -40.2 1.4285714285714286 Benign 0 -167654 Simple 201018451 A . Likely benign 2 2 not specified 2016-04-14 -5.4 2.0 Likely benign 0 -167657 Simple 77944059 - . Benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -46.2 1.375 Benign 0 -167659 Simple 6432893 A . Benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -46.8 1.25 Benign 0 -167660 Simple 4525717 T . Benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -46.8 1.25 Benign 0 -167661 Simple 35888674 AA . Benign 2 9 Primary erythromelalgia;Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -54.0 1.0 Benign 0 -167662 Simple 201531206 A . Benign/Likely benign 2 11 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-08-04 -43.2 1.0909090909090908 Benign 1 -167665 Simple 6045440 A . Uncertain significance 2 2 Congenital dyserythropoietic anemia, type II;not specified 2016-03-18 -0.54 2.0 Uncertain significance 0 -167666 Simple 41309927 A . Benign/Likely benign 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -7.2 2.5 Likely benign 1 -167670 Simple 58827902 - . Benign 2 3 not specified;Polycystic liver disease 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -167672 Simple 201094714 T . Uncertain significance 2 3 not specified;Cone-Rod Dystrophy, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -167674 Simple 727504148 T . Uncertain significance 2 2 Eichsfeld type congenital muscular dystrophy;not specified 2017-07-27 -0.51 2.0 Uncertain significance 0 -167677 Simple 143570936 A . Pathogenic/Likely pathogenic 2 5 Limb-girdle muscular dystrophy, type 2D 2017-06-12 23.400000000000002 2.0 Pathogenic 1 -167678 Simple 35495899 T . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy, type 2D;not specified 2017-09-14 -13.2 1.3333333333333333 Benign/Likely benign 0 -167679 Simple 2696288 C . Benign 2 2 not specified 2014-11-24 -9.0 3.5 Benign/Likely benign 1 -167681 Simple 1800354 G . Benign 2 3 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -167690 Simple 338074 G . Benign 2 1 not specified 2015-07-07 . 2.0 . 0 -167693 Simple 727504156 - . Pathogenic 2 2 not provided 2015-11-09 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -167696 Simple 727504159 A . Pathogenic/Likely pathogenic 2 2 Renal carnitine transport defect;not provided 2016-07-29 7.2 2.5 Likely pathogenic 1 -167707 Simple 145319852 T . Benign 2 3 Congenital muscular hypertrophy-cerebral syndrome;not specified 2017-06-14 -16.8 1.3333333333333333 Benign/Likely benign 1 -167708 Simple 727504165 - . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease, type B;Niemann-Pick disease, type A 2015-12-18 7.5 2.5 Likely pathogenic 1 -167724 Simple 200737004 A . Benign/Likely benign 2 3 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-07-01 -13.8 1.6666666666666667 Benign/Likely benign 0 -167731 Simple 143244149 C . Benign/Likely benign 2 3 Pitt-Hopkins syndrome;not specified 2017-07-26 -11.7 1.0 Benign/Likely benign 0 -167734 Simple 11382548 A . Benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -167739 Simple 17857515 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -167741 Simple 61756347 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -167742 Simple 727504179 - . Uncertain significance 2 2 Arthrogryposis multiplex congenita distal type 1;not specified 2017-04-11 -0.54 1.5 Uncertain significance 0 -167745 Simple 200326473 C . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2017-07-31 -0.54 1.5 Uncertain significance 0 -167750 Simple 148549222 A . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -167759 Simple 575939045 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-12 -0.8099999999999999 2.0 Uncertain significance 0 -167760 Simple 201023432 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-09 -0.6 1.0 Uncertain significance 0 -167766 Simple 185887755 A . Uncertain significance 2 2 not specified 2014-03-19 -0.44999999999999996 3.5 Uncertain significance 0 -167767 Simple 189790119 A . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.2199999999999998 1.75 Uncertain significance 0 -167770 Simple 542720402 T . Uncertain significance 2 2 not specified 2015-07-02 -0.51 2.5 Uncertain significance 0 -167786 Simple 375474669 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-12 -0.87 0.6666666666666666 Uncertain significance 0 -167789 Simple 727504199 - . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-25 -2.55 1.4444444444444444 Uncertain significance 0 -167796 Simple 71393436 ACAAAACAAAACAAAACAAA . Benign/Likely benign 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -34.8 1.1111111111111112 Benign 1 -167797 Simple 71393436 . . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2015-11-19 -15.600000000000001 2.3333333333333335 Benign/Likely benign 1 -167805 Simple 727504208 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-26 -0.54 1.5 Uncertain significance 0 -167808 Simple 541811273 C . Uncertain significance 2 2 not specified 2014-06-26 -0.48 3.0 Uncertain significance 0 -167817 Simple 34768472 C . Benign/Likely benign 2 3 Neural tube defect;Caudal dysgenesis syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -167820 Simple 309559 G . Benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -167821 Simple 61749614 G . Benign/Likely benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -167822 Simple 35648048 A . Benign/Likely benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -167823 Simple 188703 A . Benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -167824 Simple 309557 C . Benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -167830 Simple 147342579 G . Uncertain significance 2 2 Cohen syndrome;not specified 2017-07-25 -0.54 1.5 Uncertain significance 0 -167832 Simple 727504219 A . Pathogenic/Likely pathogenic 2 2 Cohen syndrome 2015-12-07 7.5 2.5 Likely pathogenic 1 -167833 Simple 199559979 C . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -167835 Simple 111353525 T . Benign/Likely benign 2 2 not specified 2016-08-08 -7.2 2.5 Likely benign 1 -167836 Simple 150767461 A . Uncertain significance 2 2 not specified 2017-01-12 -0.51 2.5 Uncertain significance 0 -167839 Simple 35214083 A . Benign 2 2 Microphthalmia, isolated 2;not specified 2017-02-28 -10.8 2.0 Benign/Likely benign 1 -167840 Simple 35435463 T . Benign 2 3 Microphthalmia, isolated 6;not specified;VSX2-related Microphthalmia 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -167844 Simple 1191778 C . Benign 2 3 Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -167846 Simple 1191779 A . Benign 2 3 Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -167847 Simple 144673252 C . Uncertain significance 2 3 Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -167848 Simple 139460397 T . Uncertain significance 2 2 not specified 2016-05-19 -0.51 2.5 Uncertain significance 0 -167850 Simple 146114074 C . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.600000000000001 2.0 Benign/Likely benign 0 -167853 Simple 139191491 C . Benign/Likely benign 2 2 not specified 2017-03-22 -7.2 2.0 Likely benign 1 -177626 Simple 727504239 C . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided 2016-11-18 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -177629 Simple 369437262 C . Uncertain significance 3 6 Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy 2016-12-15 0.6300000000000001 1.3333333333333333 Uncertain significance 0 -177634 Simple 727504246 A . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy 2016-07-22 8.4 2.0 Pathogenic/Likely pathogenic 0 -177636 Simple 727504247 T . Pathogenic/Likely pathogenic 2 5 Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided 2017-05-16 24.900000000000002 1.8 Pathogenic 1 -177644 Simple 727504255 T . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2016-03-30 7.2 2.5 Likely pathogenic 1 -177648 Simple 140593 T . Pathogenic 2 3 Marfan syndrome;not provided 2016-08-02 13.8 3.6666666666666665 Pathogenic/Likely pathogenic 1 -177653 Simple 727504259 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-01-17 -0.6 1.0 Uncertain significance 0 -177660 Simple 727504265 - . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-10 16.8 1.3333333333333333 Pathogenic 0 -177665 Simple 121913632 A . Pathogenic 3 6 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not specified;not provided 2016-12-15 24.39 2.5 Pathogenic 0 -177666 Simple 727504268 T . Uncertain significance 2 2 not specified 2016-03-02 -0.45 3.5 Uncertain significance 0 -177667 Simple 202141173 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-08 -0.6 0.5 Uncertain significance 0 -177668 Simple 727504269 T . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2017-05-24 8.1 2.0 Likely pathogenic 1 -177672 Simple 121913341 C . Pathogenic 3 3 not provided;Rasopathy;Malignant melanoma;Neoplasm;Cardio-facio-cutaneous syndrome 2017-04-03 14.4 1.6666666666666667 Pathogenic/Likely pathogenic 1 -177676 Simple 727504274 T . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided 2014-02-15 8.1 4.333333333333333 Likely pathogenic 1 -177679 Simple 727504275 T . Pathogenic/Likely pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-06-26 13.8 1.75 Pathogenic/Likely pathogenic 0 -177686 Simple 727504269 A . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2016-10-07 8.4 2.0 Pathogenic/Likely pathogenic 0 -177692 Simple 727504283 A . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2015-04-29 7.2 3.5 Likely pathogenic 1 -177697 Simple 200939753 T . Uncertain significance 3 6 Primary familial hypertrophic cardiomyopathy;Camptocormism;not specified;Hypertrophic cardiomyopathy 2016-12-15 3.66 1.8333333333333333 Uncertain significance 0 -177698 Simple 730880336 TGCCGTGCCG . Pathogenic 2 4 Primary familial hypertrophic cardiomyopathy;not provided;Cardiomyopathy 2017-03-24 18.6 3.0 Pathogenic 0 -177701 Simple 727504289 T . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2015-07-14 10.2 2.5 Pathogenic/Likely pathogenic 1 -177706 Simple 367947846 C . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Cardiovascular phenotype 2016-02-25 15.0 2.6666666666666665 Pathogenic 0 -177711 Simple 727504296 C . Uncertain significance 2 2 not specified 2013-09-24 -0.39 4.5 Uncertain significance 0 -177715 Simple 114079815 T . Benign 2 4 Glycogen storage disease of heart, lethal congenital;not specified;Cardiovascular phenotype 2017-08-08 -21.0 2.0 Benign/Likely benign 1 -177735 Simple 727504302 G . Likely pathogenic 2 2 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness 2017-05-09 5.1 2.0 Likely pathogenic 0 -177737 Simple 730880338 AA . Pathogenic/Likely pathogenic 2 2 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness 2015-04-07 7.800000000000001 2.5 Likely pathogenic 1 -177753 Simple 45611033 A . Likely pathogenic 3 4 Primary familial hypertrophic cardiomyopathy;not specified 2016-12-15 2.55 2.25 Uncertain significance 2 -177756 Simple 140380523 G . Benign/Likely benign 2 3 not specified;Cardiovascular phenotype 2015-09-10 -9.600000000000001 4.666666666666667 Benign/Likely benign 0 -177757 Simple 727504310 C . Likely pathogenic 3 4 Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not specified 2016-12-15 7.83 2.25 Likely pathogenic 0 -177760 Simple 146733615 A . Pathogenic 2 3 Usher syndrome, type 2A;Retinitis pigmentosa 39 2016-08-18 16.8 1.6666666666666667 Pathogenic 0 -177761 Simple 727504313 A . Uncertain significance 2 2 not specified 2017-10-20 -0.48 2.5 Uncertain significance 0 -177763 Simple 727503254 A . Likely pathogenic 3 3 Primary dilated cardiomyopathy;not specified 2016-12-15 2.73 1.3333333333333333 Uncertain significance 2 -177770 Simple 2076304 A . Benign 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-08-21 -9.0 5.0 Benign/Likely benign 1 -177774 Simple 34565443 - . Benign 2 2 not specified 2014-08-29 -9.0 3.5 Benign/Likely benign 1 -177780 Simple 727504318 C . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-03-16 -0.48 2.5 Uncertain significance 0 -177782 Simple 727504319 A . Uncertain significance 2 2 not specified 2014-04-10 -0.42 4.0 Uncertain significance 0 -177788 Simple 727504325 T . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy 2017-02-14 -1.02 2.5 Uncertain significance 0 -177789 Simple 140751478 T . Likely benign 2 2 3-Methylglutaconic aciduria type 2;not specified 2016-08-18 -4.8 3.0 Likely benign 0 -177791 Simple 28934573 C . Likely pathogenic 2 2 Malignant lymphoma, non-Hodgkin;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Kidney cancer;Li-Fraumeni syndrome;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Papillary renal cell carcinoma, sporadic;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma;Carcinoma of gallbladder 2016-05-31 5.4 2.0 Likely pathogenic 0 -177796 Simple 727504329 A . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-01-26 16.8 1.6666666666666667 Pathogenic 0 -177798 Simple 10770865 A . Likely benign 2 2 Dilated cardiomyopathy 1O;not specified 2017-07-10 -4.5 4.0 Likely benign 0 -177802 Simple 45610637 T . Likely benign 2 2 not specified 2016-03-30 -5.4 2.0 Likely benign 0 -177807 Simple 727504331 C . Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2016-12-27 5.4 2.0 Likely pathogenic 0 -177814 Simple 727504334 T . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-08-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -177817 Simple 727504336 - . Uncertain significance 3 2 Primary familial hypertrophic cardiomyopathy;not specified 2016-12-15 3.87 2.5 Uncertain significance 0 -177824 Simple 727504341 A . Uncertain significance 2 2 not specified 2015-09-09 -0.51 2.5 Uncertain significance 0 -177825 Simple 55863639 T . Pathogenic 2 4 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-22 24.0 0.5 Pathogenic 0 -177827 Simple 727504343 G . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-23 -5.1 2.0 Likely benign 0 -177832 Simple 727504346 T . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy 2016-12-21 -1.02 2.5 Uncertain significance 0 -177835 Simple 727504349 T . Pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-06-07 17.4 0.6666666666666666 Pathogenic 0 -177837 Simple 111683277 T . Pathogenic/Likely pathogenic 2 3 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided 2017-10-06 12.3 2.6666666666666665 Pathogenic/Likely pathogenic 0 -177840 Simple 35924492 G . Benign/Likely benign 2 5 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-08 -22.8 2.2 Benign/Likely benign 0 -177842 Simple 370242565 C . Uncertain significance 2 4 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified 2016-06-14 -1.1099999999999999 1.75 Uncertain significance 0 -177850 Simple 573916965 A . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy 2016-01-11 7.800000000000001 2.5 Likely pathogenic 1 -177862 Simple 730880341 AA . Pathogenic/Likely pathogenic 2 1 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 2015-11-14 . 2.0 . 0 -177865 Simple 111626355 G . Benign 3 3 not specified;Hypertrophic cardiomyopathy 2016-12-15 -17.4 1.3333333333333333 Benign/Likely benign 1 -177868 Simple 727504370 C . Pathogenic 3 4 not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-05-09 16.5 2.75 Pathogenic 0 -177872 Simple 150974575 T . Pathogenic/Likely pathogenic 2 2 Myofibrillar myopathy 1;Myofibrillar myopathy 2016-08-04 8.1 2.5 Likely pathogenic 1 -177873 Simple 369181536 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-08-09 -0.6 0.5 Uncertain significance 0 -177877 Simple 532996422 T . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-12 -8.1 2.0 Likely benign 1 -177883 Simple 147042608 A . Uncertain significance 2 2 not specified 2015-11-19 -0.48 3.0 Uncertain significance 0 -177884 Simple 727504378 T . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-03-02 -1.08 2.0 Uncertain significance 0 -177886 Simple 727504379 G . Likely pathogenic 2 2 Cardiomyopathy;not provided 2011-09-22 3.0 6.5 Uncertain significance 2 -177898 Simple 17855988 C . Benign 2 3 not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -177910 Simple 727504396 T . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy 2017-03-24 -0.96 2.75 Uncertain significance 0 -177917 Simple 727504399 T . Uncertain significance 2 2 not specified 2014-12-23 -0.42 4.0 Uncertain significance 0 -177918 Simple 151229168 A . Uncertain significance 2 2 not specified 2015-06-16 -0.42000000000000004 4.0 Uncertain significance 0 -177921 Simple 397516106 T . Uncertain significance 2 2 not specified 2017-01-30 -0.48 3.0 Uncertain significance 0 -177923 Simple 61730434 C . Benign/Likely benign 2 3 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified 2016-06-14 -9.0 2.6666666666666665 Benign/Likely benign 0 -177930 Simple 727504407 C . Uncertain significance 2 2 not specified 2016-11-30 -0.5700000000000001 1.5 Uncertain significance 0 -177939 Simple 45495192 T . Likely benign 2 5 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2017-09-15 -13.5 1.6 Benign/Likely benign 1 -177941 Simple 727504412 - . Pathogenic 2 3 Alagille syndrome 1;not provided 2016-10-04 15.0 2.6666666666666665 Pathogenic 0 -177945 Simple 200530211 A . Uncertain significance 2 4 not specified;not provided;Hypertrophic cardiomyopathy 2016-12-01 -0.99 2.75 Uncertain significance 0 -177956 Simple 727504423 A . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2015-04-08 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -177959 Simple 727504426 G . Pathogenic/Likely pathogenic 2 2 Juvenile myelomonocytic leukemia;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;not provided 2016-11-28 8.7 1.5 Pathogenic/Likely pathogenic 0 -177960 Simple 3753037 T . Benign 2 4 Neuroblastoma;Pheochromocytoma;not specified;Charcot-Marie-Tooth, Type 2 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -177961 Simple 114544564 T . Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-10-02 -8.4 1.0 Benign/Likely benign 1 -177962 Simple 146880158 A . Likely benign 2 2 not specified;Dilated cardiomyopathy 1JJ 2016-01-02 -5.1 2.5 Likely benign 0 -177963 Simple 140800076 C . Benign/Likely benign 2 4 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-09-11 -16.5 1.25 Benign/Likely benign 0 -177964 Simple 76603530 T . Benign 2 3 Familial hypertrophic cardiomyopathy 1;not specified 2016-11-26 -15.0 2.6666666666666665 Benign/Likely benign 1 -177965 Simple 2275693 T . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -177966 Simple 16866490 C . Benign 2 2 not specified 2014-12-19 -9.0 3.5 Benign/Likely benign 1 -177967 Simple 16866477 C . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-02 -10.2 2.0 Benign/Likely benign 1 -177968 Simple 3813249 C . Likely benign 2 2 not specified 2017-01-12 -5.4 2.0 Likely benign 0 -177969 Simple 199612401 C . Benign 3 2 not specified;Rasopathy 2017-05-09 -11.399999999999999 1.5 Benign/Likely benign 1 -177974 Simple 199562036 - . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -177977 Simple 143749154 T . Benign/Likely benign 2 4 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2017-05-28 -19.2 1.5 Benign/Likely benign 0 -177981 Simple 150397427 A . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2017-03-30 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -177984 Simple 727504430 A . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2014-09-05 6.6 4.0 Likely pathogenic 1 -177988 Simple 201560522 G . Benign/Likely benign 2 2 not specified 2016-11-18 -8.7 1.5 Benign/Likely benign 0 -177993 Simple 2797235 C . Benign 2 2 not specified 2014-08-19 -7.8 4.5 Likely benign 2 -177995 Simple 727504432 - . Pathogenic/Likely pathogenic 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided;Cardiovascular phenotype 2017-10-25 17.7 0.75 Pathogenic 1 -177999 Simple 146942382 T . Uncertain significance 2 3 Dilated cardiomyopathy 1O;not specified 2017-07-12 -0.84 1.0 Uncertain significance 0 -178003 Simple 369293885 T . Likely benign 2 2 not specified 2016-11-04 -4.8 3.0 Likely benign 0 -178004 Simple 137890030 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-07-26 -11.1 1.6666666666666667 Benign/Likely benign 0 -178005 Simple 147484763 C . Benign/Likely benign 2 4 ANKRD1-related dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-06-12 -17.1 1.5 Benign/Likely benign 0 -178006 Simple 144041999 G . Benign 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-06-19 -9.6 2.5 Benign/Likely benign 1 -178009 Simple 149358702 T . Benign 2 5 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-03-22 -25.8 2.2 Benign 0 -178010 Simple 72554057 T . Likely benign 2 2 not specified 2016-12-20 -5.4 2.0 Likely benign 0 -178012 Simple 143132980 T . Uncertain significance 2 2 not specified;Rasopathy 2017-02-22 -0.54 2.0 Uncertain significance 0 -178017 Simple 112532429 T . Likely benign 2 2 not specified 2015-11-18 -4.5 3.5 Likely benign 0 -178018 Simple 150318400 T . Uncertain significance 2 2 not specified 2016-09-26 -0.54 2.0 Uncertain significance 0 -178019 Simple 201015785 C . Uncertain significance 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;Cardiovascular phenotype 2017-08-29 -1.02 2.0 Uncertain significance 0 -178020 Simple 201051252 C . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype 2017-08-08 -15.0 2.3333333333333335 Benign/Likely benign 1 -178024 Simple 148095061 A . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-09-27 -0.51 2.5 Uncertain significance 0 -178027 Simple 74806300 T . Benign/Likely benign 2 4 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified;Cardiovascular phenotype 2017-03-10 -15.6 1.75 Benign/Likely benign 0 -178028 Simple 184154918 A . Benign/Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-06-30 -24.9 1.5714285714285714 Benign 1 -178035 Simple 367618012 G . Likely benign 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-08 -8.4 1.0 Benign/Likely benign 1 -178036 Simple 140148322 A . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2017-08-08 -0.5700000000000001 1.0 Uncertain significance 0 -178038 Simple 74575749 A . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2017-04-21 -8.1 2.0 Likely benign 1 -178039 Simple 145175985 A . Likely benign 2 2 not specified 2015-12-08 -5.1 2.5 Likely benign 0 -178040 Simple 375451560 A . Likely benign 2 3 not specified;Cardiovascular phenotype 2017-09-07 -8.1 1.6666666666666667 Likely benign 0 -178042 Simple 140606359 C . Uncertain significance 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;not provided 2016-04-23 -0.72 3.0 Uncertain significance 0 -178043 Simple 372145644 A . Benign/Likely benign 2 2 not specified 2016-03-28 -8.4 2.0 Benign/Likely benign 0 -178045 Simple 144482486 G . Benign/Likely benign 2 2 not specified 2015-10-28 -8.100000000000001 2.0 Likely benign 1 -178048 Simple 377415750 T . Benign/Likely benign 2 2 not specified 2015-02-12 -6.9 3.5 Likely benign 1 -178049 Simple 145897390 A . Uncertain significance 2 2 not specified 2015-09-01 -0.51 2.5 Uncertain significance 0 -178050 Simple 184220860 A . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2016-11-02 -15.0 2.6666666666666665 Benign/Likely benign 1 -178051 Simple 141261442 A . Uncertain significance 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-03-02 -0.8099999999999999 2.0 Uncertain significance 0 -178056 Simple 147069572 T . Benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-07-25 -16.2 1.6666666666666667 Benign/Likely benign 1 -178057 Simple 139146419 T . Benign/Likely benign 2 4 not specified;not provided;Dilated cardiomyopathy 1JJ 2016-12-24 -16.5 2.25 Benign/Likely benign 0 -178059 Simple 201693259 T . Benign/Likely benign 2 2 not specified 2016-06-24 -7.8 2.0 Likely benign 1 -178060 Simple 143823978 A . Likely benign 2 2 not specified 2016-12-19 -5.7 1.5 Likely benign 0 -178063 Simple 376344765 A . Benign/Likely benign 2 2 not specified 2014-08-13 -6.9 3.5 Likely benign 1 -178064 Simple 11570105 A . Likely benign 2 2 not specified 2016-08-19 -5.4 2.0 Likely benign 0 -178072 Simple 149650190 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2016-05-15 -0.54 2.0 Uncertain significance 0 -178075 Simple 148962966 T . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-05-03 -11.1 1.6666666666666667 Benign/Likely benign 0 -178077 Simple 138928022 A . Likely benign 2 3 not specified;Cardiovascular phenotype 2017-11-06 -7.800000000000001 2.0 Likely benign 0 -178079 Simple 45476496 T . Likely benign 2 2 not specified 2017-04-04 -5.1 2.0 Likely benign 0 -178082 Simple 45451303 A . Uncertain significance 2 4 Familial hypertrophic cardiomyopathy 1;not specified 2017-05-26 -1.05 2.0 Uncertain significance 0 -178087 Simple 368364468 T . Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-01-31 -8.1 2.0 Likely benign 0 -178088 Simple 145656924 A . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 1;not specified 2017-02-10 -11.1 2.0 Benign/Likely benign 0 -178090 Simple 113936360 A . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 1;not specified 2017-02-10 -13.5 2.3333333333333335 Benign/Likely benign 0 -178091 Simple 111888319 C . Benign 2 3 Familial hypertrophic cardiomyopathy 1;not specified 2017-02-10 -15.0 2.6666666666666665 Benign/Likely benign 1 -178092 Simple 372215131 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -178093 Simple 140245727 A . Benign 2 3 Primary dilated cardiomyopathy;not specified 2017-04-21 -15.0 2.3333333333333335 Benign/Likely benign 1 -178095 Simple 200756166 G . Likely benign 2 3 not specified 2016-12-19 -8.4 1.6666666666666667 Benign/Likely benign 1 -178096 Simple 146471913 A . Uncertain significance 2 2 not specified 2016-11-11 -0.54 2.0 Uncertain significance 0 -178097 Simple 1528182 G . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified 2017-07-24 -13.200000000000001 2.3333333333333335 Benign/Likely benign 0 -178099 Simple 375728589 T . Likely benign 2 2 not specified 2017-08-23 -5.4 1.5 Likely benign 0 -178100 Simple 200249470 T . Uncertain significance 2 2 not specified 2017-01-26 -0.54 2.0 Uncertain significance 0 -178105 Simple 151264959 T . Benign/Likely benign 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;not provided 2017-04-17 -13.5 1.75 Benign/Likely benign 0 -178109 Simple 200920312 T . Benign 3 3 not specified;Rasopathy 2017-04-18 -13.8 2.3333333333333335 Benign/Likely benign 1 -178110 Simple 3730270 T . Benign/Likely benign 2 4 Noonan syndrome with multiple lentigines;Noonan syndrome;not specified 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -178112 Simple 372923744 A . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2017-08-08 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -178113 Simple 372287944 C . Benign/Likely benign 2 2 not specified 2014-07-22 -7.199999999999999 3.0 Likely benign 1 -178115 Simple 202040519 T . Uncertain significance 2 2 not specified 2017-03-20 -0.51 2.0 Uncertain significance 0 -178116 Simple 113422365 C . Benign/Likely benign 2 3 not specified;Cardiovascular phenotype 2015-07-28 -10.5 2.3333333333333335 Benign/Likely benign 0 -178117 Simple 201079716 A . Uncertain significance 2 4 Arrhythmogenic right ventricular dysplasia, familial, 2;Catecholaminergic polymorphic ventricular tachycardia type 1;not specified;Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2;Catecholaminergic polymorphic ventricular tachycardia 2017-05-23 -1.1099999999999999 1.25 Uncertain significance 0 -178120 Simple 200450676 C . Uncertain significance 2 5 Arrhythmogenic right ventricular dysplasia, familial, 2;Catecholaminergic polymorphic ventricular tachycardia type 1;not specified;Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2;Catecholaminergic polymorphic ventricular tachycardia 2017-05-23 -1.38 1.2 Uncertain significance 0 -178121 Simple 370331492 T . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-08-24 -0.51 2.5 Uncertain significance 0 -178124 Simple 368661838 A . Likely benign 2 2 not specified 2015-12-08 -5.1 2.5 Likely benign 0 -178126 Simple 727504438 T . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-02-24 -5.1 2.5 Likely benign 0 -178128 Simple 368980118 A . Benign/Likely benign 2 3 Brugada syndrome;not specified 2015-08-27 -10.200000000000001 2.6666666666666665 Benign/Likely benign 0 -178129 Simple 138892850 A . Likely benign 2 3 Brugada syndrome;not specified 2016-07-04 -7.800000000000001 2.3333333333333335 Likely benign 0 -178131 Simple 111422496 A . Benign 2 2 Brugada syndrome;not specified 2017-05-24 -11.4 1.0 Benign/Likely benign 1 -178132 Simple 371686822 T . Likely benign 2 2 Brugada syndrome;not specified 2017-08-08 -5.4 1.5 Likely benign 0 -178134 Simple 114636635 C . Conflicting interpretations of pathogenicity 1 2 Legius syndrome;not specified 2017-01-19 -7.8 3.0 Likely benign 2 -178135 Simple 201267786 T . Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-12-30 -7.5 2.6666666666666665 Likely benign 0 -178136 Simple 111513627 T . Uncertain significance 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-16 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -178137 Simple 150334659 A . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified 2017-03-10 -12.9 2.3333333333333335 Benign/Likely benign 0 -178139 Simple 373590238 A . Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified 2017-04-03 -5.1 2.0 Likely benign 0 -178140 Simple 150425166 A . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiovascular phenotype 2015-11-25 -0.78 2.3333333333333335 Uncertain significance 0 -178142 Simple 143232629 G . Uncertain significance 2 2 not specified;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -178144 Simple 34983516 G . Likely benign 2 3 not specified;Cardiovascular phenotype 2017-09-12 -8.1 1.6666666666666667 Likely benign 0 -178145 Simple 150881554 A . Benign/Likely benign 2 2 Dilated cardiomyopathy 1Z;Familial hypertrophic cardiomyopathy 13;not specified 2017-07-03 -8.4 1.5 Benign/Likely benign 0 -178148 Simple 371934474 G . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-05-31 -0.75 2.3333333333333335 Uncertain significance 0 -178154 Simple 144094650 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-22 -12.9 2.3333333333333335 Benign/Likely benign 0 -178159 Simple 201421156 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-04-27 -0.54 1.5 Uncertain significance 0 -178160 Simple 375403439 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-23 -10.2 2.0 Benign/Likely benign 0 -178166 Simple 59148238 C . Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-11-02 -9.9 2.75 Benign/Likely benign 1 -178167 Simple 727504439 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-26 -5.1 2.5 Likely benign 0 -178169 Simple 373727636 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-10 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -178170 Simple 368511235 T . Uncertain significance 2 2 not specified;not provided 2016-11-30 -0.54 2.0 Uncertain significance 0 -178176 Simple 140201636 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-31 -5.1 2.0 Likely benign 0 -178179 Simple 374022393 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-08 -0.51 2.0 Uncertain significance 0 -178180 Simple 201272728 T . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-06 -8.1 1.6666666666666667 Likely benign 0 -178181 Simple 373532064 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-30 -1.02 2.25 Uncertain significance 0 -178184 Simple 199929362 T . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-03-10 -2.52 1.5555555555555556 Uncertain significance 0 -178188 Simple 374003257 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-06 -15.3 2.0 Benign/Likely benign 0 -178189 Simple 375204371 C . Uncertain significance 2 2 not specified 2015-10-13 -0.54 2.0 Uncertain significance 0 -178192 Simple 201836227 G . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -178194 Simple 376870149 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -0.51 2.0 Uncertain significance 0 -178195 Simple 201381085 G . Uncertain significance 2 3 not specified 2017-09-13 -0.87 1.0 Uncertain significance 0 -178200 Simple 201662134 A . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-10-12 -2.9699999999999998 1.1 Uncertain significance 0 -178203 Simple 369476725 A . Uncertain significance 2 2 not specified 2017-02-10 -0.54 2.0 Uncertain significance 0 -178204 Simple 367816473 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -0.54 1.5 Uncertain significance 0 -178205 Simple 200017524 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-08-04 -11.4 1.3333333333333333 Benign/Likely benign 0 -178206 Simple 369979598 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-15 -5.4 1.5 Likely benign 0 -178207 Simple 372013419 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -0.54 1.5 Uncertain significance 0 -178209 Simple 368502650 C . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-16 -1.1400000000000001 1.25 Uncertain significance 0 -178210 Simple 77496539 T . Likely benign 2 2 not specified 2017-01-12 -5.4 2.0 Likely benign 0 -178212 Simple 373109469 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-07 -0.54 1.5 Uncertain significance 0 -178213 Simple 186105748 G . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-31 -8.4 1.5 Benign/Likely benign 0 -178215 Simple 55973744 A . Benign/Likely benign 2 12 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-12 -49.8 1.5 Benign 1 -178216 Simple 375780439 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-15 -5.1 2.0 Likely benign 0 -178218 Simple 369959066 A . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-04-21 -16.8 1.4 Benign/Likely benign 0 -178220 Simple 184713215 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2016-10-17 -0.72 3.0 Uncertain significance 0 -178223 Simple 372380420 A . Benign 2 2 not specified 2015-09-10 -10.8 2.0 Benign/Likely benign 1 -178226 Simple 201991864 A . Uncertain significance 2 2 not specified;not provided 2014-07-16 -0.44999999999999996 3.5 Uncertain significance 0 -178230 Simple 369094355 G . Uncertain significance 2 3 not specified 2016-10-11 -0.81 2.0 Uncertain significance 0 -178234 Simple 201005813 T . Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-25 -9.6 2.75 Benign/Likely benign 1 -178235 Simple 190192954 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-31 -0.54 1.5 Uncertain significance 0 -178237 Simple 374879942 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-29 -11.1 2.0 Benign/Likely benign 0 -178240 Simple 368101794 G . Likely benign 2 2 not specified 2016-11-28 -5.4 2.0 Likely benign 0 -178248 Simple 192553687 C . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-14 -1.08 2.0 Uncertain significance 0 -178250 Simple 73973139 C . Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-27 -12.600000000000001 2.4 Benign/Likely benign 1 -178252 Simple 374882815 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-03-15 -0.72 2.6666666666666665 Uncertain significance 0 -178253 Simple 72648945 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-03 -0.78 2.0 Uncertain significance 0 -178256 Simple 200941841 T . Uncertain significance 2 2 not specified 2015-09-29 -0.48 3.0 Uncertain significance 0 -178259 Simple 11899887 A . Likely benign 2 2 not specified 2016-10-20 -5.1 2.5 Likely benign 0 -178266 Simple 142460433 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-25 -17.7 2.25 Benign/Likely benign 0 -178268 Simple 146636599 G . Uncertain significance 2 4 not specified;Cardiovascular phenotype 2017-05-30 -1.02 2.25 Uncertain significance 0 -178269 Simple 143035953 T . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-07 -15.9 1.8 Benign/Likely benign 0 -178270 Simple 142926566 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2014-06-30 -0.42 4.0 Uncertain significance 0 -178271 Simple 144672482 A . Uncertain significance 2 2 not specified 2014-04-29 -0.44999999999999996 3.5 Uncertain significance 0 -178272 Simple 140760859 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-06 -0.72 2.6666666666666665 Uncertain significance 0 -178273 Simple 149155733 A . Uncertain significance 2 2 not specified 2017-01-11 -0.5700000000000001 1.5 Uncertain significance 0 -178274 Simple 149061352 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-16 -0.54 2.0 Uncertain significance 0 -178276 Simple 142414432 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-04 -0.78 2.0 Uncertain significance 0 -178277 Simple 376527094 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-06 -10.2 2.0 Benign/Likely benign 0 -178279 Simple 145551875 G . Uncertain significance 2 3 Amyloidogenic transthyretin amyloidosis;not specified 2016-04-16 -0.78 2.3333333333333335 Uncertain significance 0 -178281 Simple 142128712 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1W;not specified 2017-05-16 -8.1 2.0 Likely benign 1 -178282 Simple 727504443 A . Pathogenic/Likely pathogenic 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;not provided 2017-07-06 17.1 1.5 Pathogenic 1 -178287 Simple 61997063 A . Likely benign 2 2 not specified 2016-06-14 -5.7 1.5 Likely benign 0 -178289 Simple 147250093 G . Benign/Likely benign 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -178293 Simple 200328570 A . Uncertain significance 2 2 not specified 2015-10-04 -0.54 2.0 Uncertain significance 0 -178295 Simple 199514829 C . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -178305 Simple 370762269 T . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.1099999999999999 1.75 Uncertain significance 0 -178314 Simple 200188029 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.1099999999999999 1.75 Uncertain significance 0 -178320 Simple 186720023 A . Benign/Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -21.0 1.0 Benign/Likely benign 0 -178321 Simple 146555195 T . Likely benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;not provided;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-01-24 -23.1 1.375 Benign/Likely benign 1 -178322 Simple 143186319 T . Benign/Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-01-03 -25.8 1.2857142857142858 Benign 1 -178324 Simple 374515005 A . Uncertain significance 2 2 not specified 2017-08-02 -0.54 1.5 Uncertain significance 0 -178325 Simple 147576338 A . Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -17.7 1.1666666666666667 Benign/Likely benign 1 -178326 Simple 138380958 A . Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-11-06 -19.8 1.4285714285714286 Benign/Likely benign 1 -178328 Simple 186051366 G . Likely benign 2 2 not specified 2016-11-10 -4.8 3.0 Likely benign 0 -178330 Simple 144588424 G . Benign/Likely benign 2 2 not specified 2016-03-08 -6.6 3.0 Likely benign 1 -178331 Simple 147233841 T . Uncertain significance 2 2 not specified 2017-09-28 -0.51 2.0 Uncertain significance 0 -178333 Simple 140666247 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -178338 Simple 143165834 A . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -178342 Simple 61760172 T . Likely benign 2 2 not specified 2016-08-12 -4.8 3.0 Likely benign 0 -178347 Simple 146977269 T . Uncertain significance 2 2 not specified;not provided 2014-09-12 -0.44999999999999996 3.5 Uncertain significance 0 -178352 Simple 80297119 G . Benign/Likely benign 2 4 Erythrokeratodermia variabilis;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.6 2.0 Benign/Likely benign 0 -178357 Simple 183447491 C . Likely benign 2 2 not specified 2016-05-11 -5.7 1.5 Likely benign 0 -178359 Simple 73181648 A . Benign/Likely benign 2 2 not specified 2015-04-03 -6.300000000000001 3.5 Likely benign 1 -178361 Simple 149390094 A . Benign/Likely benign 2 2 not specified 2016-07-19 -6.6 3.0 Likely benign 1 -178364 Simple 143004930 C . Likely benign 2 2 not specified 2014-12-06 -4.8 3.0 Likely benign 0 -178371 Simple 200153555 C . Benign/Likely benign 2 2 not specified 2016-04-04 -6.6 3.0 Likely benign 1 -178379 Simple 113203706 T . Benign/Likely benign 2 2 not specified;not provided 2016-11-07 -6.6 3.0 Likely benign 1 -178382 Simple 150250182 G . Likely benign 2 2 not specified 2015-09-21 -4.800000000000001 3.0 Likely benign 0 -178385 Simple 139042529 T . Benign/Likely benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2017-07-10 -26.1 1.25 Benign 1 -178396 Simple 201587138 A . Pathogenic/Likely pathogenic 2 4 Deafness, autosomal recessive 77;Nonsyndromic hearing loss and deafness;not provided;Nonsyndromic Hearing Loss, Recessive 2016-09-12 20.4 1.25 Pathogenic 1 -178400 Simple 112463030 T . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -178405 Simple 117747744 G . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -178411 Simple 200818171 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.51 2.5 Uncertain significance 0 -178413 Simple 55645295 G . Benign/Likely benign 2 2 not specified;not provided 2017-04-11 -6.6 2.5 Likely benign 1 -178417 Simple 191788683 G . Benign 2 2 not specified 2016-04-08 -9.6 3.0 Benign/Likely benign 1 -178421 Simple 140118363 A . Likely benign 2 2 not specified 2016-08-17 -4.8 3.0 Likely benign 0 -178424 Simple 115031369 T . Benign/Likely benign 2 1 not specified 2012-04-30 . 5.0 . 0 -178425 Simple 148109368 T . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -8.1 2.0 Likely benign 0 -178426 Simple 141854577 A . Likely benign 2 1 not specified 2012-04-30 . 5.0 . 0 -178428 Simple 76069100 T . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -7.8 2.3333333333333335 Likely benign 0 -178434 Simple 139441456 T . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -7.8 2.3333333333333335 Likely benign 0 -178436 Simple 138436678 A . Likely benign 2 1 not specified 2014-12-08 . 3.0 . 0 -178437 Simple 201691359 A . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -7.8 2.3333333333333335 Likely benign 0 -178438 Simple 147122501 A . Benign/Likely benign 2 4 Macular dystrophy, atypical vitelliform;May-Hegglin anomaly;Deafness, autosomal dominant nonsyndromic sensorineural 17;Epstein syndrome;Macrothrombocytopenia and progressive sensorineural deafness;not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -178439 Simple 56200894 C . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -178453 Simple 371613423 C . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.51 2.5 Uncertain significance 0 -178455 Simple 146373415 C . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.54 2.0 Uncertain significance 0 -178458 Simple 727504447 T . Uncertain significance 2 2 not specified 2015-01-22 -0.44999999999999996 3.5 Uncertain significance 0 -178473 Simple 142423106 C . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -178476 Simple 116228809 T . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.6 2.0 Benign/Likely benign 0 -178483 Simple 60103800 G . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -178495 Simple 376764423 T . Pathogenic/Likely pathogenic 2 4 Deafness, autosomal recessive 2;Usher syndrome, type 1;Retinal dystrophy;MYO7A-Related Disorders 2016-11-10 13.8 1.5 Pathogenic/Likely pathogenic 0 -178496 Simple 41298759 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.1099999999999999 1.75 Uncertain significance 0 -178497 Simple 730882117 C . Uncertain significance 2 2 not specified 2016-09-12 -0.54 2.0 Uncertain significance 0 -178511 Simple 191568463 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -178516 Simple 12359240 A . Benign 2 2 not specified 2016-05-31 -9.6 3.0 Benign/Likely benign 1 -178525 Simple 144469613 A . Benign 2 2 not specified 2014-12-09 -8.4 4.0 Benign/Likely benign 1 -178527 Simple 138116275 C . Uncertain significance 2 2 not specified 2017-07-07 -0.51 2.0 Uncertain significance 0 -178536 Simple 140534420 A . Likely benign 2 1 not specified 2012-04-30 . 5.0 . 0 -178542 Simple 201977617 A . Benign 2 2 not specified 2016-03-18 -9.6 3.0 Benign/Likely benign 1 -178545 Simple 139985214 G . Likely benign 2 1 not specified 2012-04-30 . 5.0 . 0 -178546 Simple 150738413 T . Uncertain significance 2 2 not specified 2016-12-12 -0.51 2.5 Uncertain significance 0 -178549 Simple 372526764 T . Likely pathogenic 2 2 Deafness, autosomal recessive 8;Nonsyndromic hearing loss and deafness 2016-05-01 5.4 2.0 Likely pathogenic 0 -178554 Simple 143157673 T . Benign/Likely benign 2 2 not specified 2015-09-02 -6.300000000000001 3.5 Likely benign 1 -178555 Simple 202059880 G . Likely benign 2 2 not specified 2016-07-28 -5.7 1.5 Likely benign 0 -178563 Simple 150593932 T . Uncertain significance 2 2 not specified;not provided 2017-01-24 -0.54 2.0 Uncertain significance 0 -178566 Simple 150567427 T . Uncertain significance 2 2 not specified 2016-01-20 -0.51 2.5 Uncertain significance 0 -178568 Simple 145771342 A . Benign/Likely benign 2 2 not specified 2015-05-13 -7.5 3.0 Likely benign 1 -178570 Simple 142486910 C . Uncertain significance 2 2 not specified 2016-01-25 -0.54 2.0 Uncertain significance 0 -178572 Simple 141528682 A . Likely benign 2 2 not specified 2016-05-24 -5.7 1.5 Likely benign 0 -178576 Simple 138326802 A . Likely benign 2 2 not specified 2016-03-29 -5.4 2.0 Likely benign 0 -178584 Simple 71524349 C . Benign/Likely benign 2 4 not specified;Monogenic diabetes 2017-02-21 -14.4 2.5 Benign/Likely benign 0 -178587 Simple 61735404 A . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -14.4 2.5 Benign/Likely benign 0 -178594 Simple 61735402 T . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -15.0 2.25 Benign/Likely benign 0 -178596 Simple 140125843 A . Likely benign 2 2 not specified 2016-12-29 -4.8 3.0 Likely benign 0 -178597 Simple 201064551 T . Uncertain significance 2 3 Cataract 41;Diabetes mellitus AND insipidus with optic atrophy AND deafness;WFS1-Related Disorders;Diabetes mellitus type 2;Wolfram-like syndrome, autosomal dominant;not specified 2017-05-23 -0.69 3.0 Uncertain significance 0 -178599 Simple 3833018 AA . Benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2016-06-14 -52.2 1.3333333333333333 Benign 0 -178603 Simple 113350364 A . Benign/Likely benign 2 2 not specified 2016-02-11 -7.2 3.5 Likely benign 1 -178604 Simple 1799912 T . Benign/Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -20.4 1.1666666666666667 Benign/Likely benign 0 -178605 Simple 116463365 T . Benign 2 2 Deafness, autosomal dominant 1;not specified;Seizures, cortical blindness, and microcephaly syndrome 2017-03-26 -9.6 2.5 Benign/Likely benign 1 -178606 Simple 35755269 T . Benign/Likely benign 2 3 Deafness, autosomal dominant 1;not specified;Seizures, cortical blindness, and microcephaly syndrome;Nonsyndromic Hearing Loss, Mixed 2017-07-25 -12.6 2.0 Benign/Likely benign 0 -178608 Simple 10098224 T . Benign/Likely benign 2 3 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -178609 Simple 61732307 T . Benign 2 4 Erythrokeratodermia variabilis;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -21.0 2.25 Benign/Likely benign 1 -178610 Simple 34213258 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -178611 Simple 17173510 T . Benign/Likely benign 2 7 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome 2017-07-20 -30.0 1.5714285714285714 Benign 1 -178612 Simple 187587197 T . Benign 2 3 not specified;not provided 2017-03-17 -17.4 1.0 Benign/Likely benign 1 -178615 Simple 114082868 G . Benign 2 1 not specified 2012-05-07 . 5.0 . 0 -178616 Simple 35393316 A . Benign/Likely benign 2 2 not specified 2015-05-20 -6.300000000000001 3.5 Likely benign 1 -178617 Simple 116035034 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -178618 Simple 35453633 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -178619 Simple 114274755 A . Benign 2 3 not specified 2016-02-26 -13.8 3.3333333333333335 Benign/Likely benign 1 -178620 Simple 113470661 A . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -10.200000000000001 2.6666666666666665 Benign/Likely benign 0 -178621 Simple 76394585 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -178622 Simple 61731652 C . Benign/Likely benign 2 2 not specified 2017-05-18 -7.8 2.5 Likely benign 1 -178623 Simple 6925845 G . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -178625 Simple 61900036 A . Likely benign 2 2 not specified 2016-08-01 -5.7 1.5 Likely benign 0 -178628 Simple 61731363 G . Benign/Likely benign 2 3 not specified;not provided 2017-04-11 -9.6 2.6666666666666665 Benign/Likely benign 0 -178629 Simple 144417952 T . Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, X-Linked 2016-06-14 -5.4 2.0 Likely benign 0 -178632 Simple 45610843 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -178636 Simple 142903119 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -178637 Simple 138644808 T . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -178638 Simple 35107075 T . Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -8.1 2.0 Likely benign 0 -178639 Simple 77321498 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -178640 Simple 7027812 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -178641 Simple 35797487 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -178643 Simple 35336155 G . Benign/Likely benign 2 3 not specified 2017-10-09 -12.0 2.3333333333333335 Benign/Likely benign 0 -178645 Simple 73090721 A . Benign/Likely benign 2 2 not specified 2016-02-16 -6.300000000000001 3.5 Likely benign 1 -178646 Simple 56829872 A . Benign/Likely benign 2 2 not specified 2016-02-16 -6.300000000000001 3.5 Likely benign 1 -178648 Simple 59174500 T . Benign/Likely benign 2 2 not specified 2016-02-16 -6.300000000000001 3.5 Likely benign 1 -178651 Simple 149202379 T . Benign 2 2 not specified 2015-01-27 -8.4 4.0 Benign/Likely benign 1 -178654 Simple 41264699 C . Benign/Likely benign 2 6 not specified;not provided;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant;Monogenic diabetes 2017-04-10 -25.2 1.3333333333333333 Benign 1 -178655 Simple 3821945 A . Benign/Likely benign 2 5 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -19.8 2.4 Benign/Likely benign 0 -178661 Simple 727504449 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2013-02-07 -0.36 5.0 Uncertain significance 0 -178663 Simple 2229790 G . Benign/Likely benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-10-10 -26.1 1.25 Benign 1 -178665 Simple 6433728 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -4.8 2.5 Likely benign 0 -178666 Simple 727504451 - . Benign 3 4 not specified;Rasopathy 2017-04-03 -17.1 1.25 Benign/Likely benign 1 -178668 Simple 730880345 GG . Uncertain significance 2 3 Myofibrillar myopathy, ZASP-related;not specified 2016-09-13 -0.69 3.3333333333333335 Uncertain significance 0 -178670 Simple 139659489 - . Benign/Likely benign 2 3 not specified;Dilated Cardiomyopathy, Dominant;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -178671 Simple 372388546 - . Benign/Likely benign 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -178679 Simple 149969431 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -178680 Simple 28556975 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -178685 Simple 373276722 T . Uncertain significance 2 2 not specified 2015-10-31 -0.51 2.5 Uncertain significance 0 -178688 Simple 727504458 A . Uncertain significance 2 2 not specified 2017-05-05 -0.51 2.0 Uncertain significance 0 -178691 Simple 146696080 T . Benign/Likely benign 2 3 not specified;Atrioventricular septal defect 4;Cardiovascular phenotype 2016-09-23 -12.3 2.6666666666666665 Benign/Likely benign 0 -178692 Simple 398123481 T . Pathogenic/Likely pathogenic 2 3 Von Hippel-Lindau syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-28 13.8 2.3333333333333335 Pathogenic/Likely pathogenic 0 -178697 Simple 323043 C . Benign/Likely benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -178698 Simple 13332514 A . Benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178701 Simple 74002800 T . Benign/Likely benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -178702 Simple 77009095 T . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178703 Simple 17192146 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178705 Simple 4532349 G . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -10.2 2.5 Benign/Likely benign 1 -178707 Simple 7212525 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178708 Simple 2289531 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178709 Simple 59978698 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-07 -9.6 2.5 Benign/Likely benign 1 -178711 Simple 12952612 C . Benign 2 3 Glycogen storage disease, type II;Primary ciliary dyskinesia;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -178712 Simple 2304854 G . Benign 2 4 Glycogen storage disease, type II;Primary ciliary dyskinesia;not specified 2016-06-14 -20.4 2.5 Benign/Likely benign 1 -178715 Simple 151058706 T . Benign 2 2 Surfactant metabolism dysfunction, pulmonary, 4;not specified 2017-07-19 -9.6 2.5 Benign/Likely benign 1 -178716 Simple 73618036 A . Benign 2 2 Surfactant metabolism dysfunction, pulmonary, 4;not specified 2017-07-19 -9.6 2.5 Benign/Likely benign 1 -178720 Simple 112191420 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -178721 Simple 2285942 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178723 Simple 4392792 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178724 Simple 72655988 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -178725 Simple 10269582 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178726 Simple 371484690 A . Likely benign 2 1 not specified 2013-02-21 . 5.0 . 0 -178728 Simple 11768670 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178730 Simple 72657378 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-25 -9.6 2.5 Benign/Likely benign 1 -178731 Simple 6965750 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178732 Simple 2214326 A . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -14.4 3.0 Benign/Likely benign 1 -178733 Simple 34879202 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-06-03 -9.6 2.5 Benign/Likely benign 1 -178734 Simple 187814474 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-11-19 -7.8 3.0 Likely benign 1 -178735 Simple 6461613 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178736 Simple 72658822 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178737 Simple 12537531 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178738 Simple 72658825 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-15 -9.6 2.5 Benign/Likely benign 1 -178739 Simple 56333627 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178740 Simple 3734111 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178741 Simple 2277046 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178742 Simple 30169 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178743 Simple 30168 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178744 Simple 17263496 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178745 Simple 10513155 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178746 Simple 111313933 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178747 Simple 112344370 G . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -178748 Simple 187023993 A . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-07-16 -0.54 2.0 Uncertain significance 0 -178749 Simple 10041113 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178750 Simple 6554827 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178751 Simple 7703349 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178752 Simple 16902880 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-04 -12.6 2.0 Benign/Likely benign 0 -178753 Simple 4701997 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178755 Simple 1445823 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178756 Simple 139160176 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-11 -9.6 2.5 Benign/Likely benign 1 -178757 Simple 144748846 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-05-17 -9.6 2.5 Benign/Likely benign 0 -178759 Simple 115758625 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178760 Simple 339445 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178761 Simple 11547035 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178762 Simple 141704318 A . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-12-20 -0.54 2.0 Uncertain significance 0 -178763 Simple 76334696 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -178764 Simple 8076337 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178766 Simple 529208 A . Benign 2 3 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -178769 Simple 2297079 G . Benign 2 3 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -178771 Simple 1887957 A . Benign 2 3 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -178774 Simple 35400405 A . Benign/Likely benign 2 7 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2017-08-15 -33.6 1.4285714285714286 Benign 1 -178776 Simple 114029765 G . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178777 Simple 11718908 G . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -178778 Simple 34197730 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178779 Simple 7128146 T . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178780 Simple 34545902 A . Benign/Likely benign 2 3 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-10-20 -12.6 2.3333333333333335 Benign/Likely benign 0 -178781 Simple 1051303 G . Benign 2 3 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-09-29 -15.6 2.3333333333333335 Benign/Likely benign 1 -178782 Simple 10880 T . Benign 2 2 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-09-29 -9.6 3.0 Benign/Likely benign 1 -178784 Simple 56179538 A . Benign 2 2 not specified 2015-07-22 -9.0 3.5 Benign/Likely benign 1 -178794 Simple 56344012 G . Benign/Likely benign 2 2 not specified 2014-06-03 -6.0 4.0 Likely benign 1 -178799 Simple 13213314 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -178802 Simple 250563 T . Benign 2 4 Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -178803 Simple 2303156 G . Likely benign 2 4 Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -178804 Simple 1799980 T . Benign 2 5 Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -27.6 1.8 Benign 0 -178805 Simple 5739 T . Benign/Likely benign 2 3 Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -178806 Simple 20546 A . Benign/Likely benign 2 3 Alpha-1-antitrypsin deficiency;not specified 2017-05-23 -12.6 2.0 Benign/Likely benign 0 -178807 Simple 35524245 T . Uncertain significance 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -178809 Simple 150352976 A . Likely benign 2 2 Tuberous sclerosis 2;not specified 2016-09-05 -4.8 3.0 Likely benign 0 -178810 Simple 117681493 C . Benign/Likely benign 2 1 not specified 2013-02-21 . 5.0 . 0 -178811 Simple 56128139 C . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -178812 Simple 727504460 C . Uncertain significance 2 6 Deafness, autosomal dominant 13;Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -1.71 1.5 Uncertain significance 0 -178813 Simple 727504461 - . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.75 2.6666666666666665 Uncertain significance 0 -178814 Simple 373099440 G . Uncertain significance 2 2 not specified 2016-09-23 -0.51 2.5 Uncertain significance 0 -178816 Simple 371706980 - . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiomyopathy, ARVC 2017-07-28 -14.4 1.0 Benign/Likely benign 0 -178832 Simple 727504476 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-06 -0.78 2.0 Uncertain significance 0 -178836 Simple 727504479 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-11 -0.81 2.0 Uncertain significance 0 -178843 Simple 183692794 T . Benign/Likely benign 2 5 Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease 2016-06-14 -16.2 1.6 Benign/Likely benign 0 -178844 Simple 572312301 C . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -178846 Simple 377581131 G . Benign/Likely benign 2 1 not specified 2015-11-23 . 2.0 . 0 -178849 Simple 200690479 T . Uncertain significance 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;not provided 2017-08-07 -0.78 2.0 Uncertain significance 0 -178858 Simple 727504495 T . Uncertain significance 2 3 Brugada syndrome;not specified 2017-01-10 -0.8099999999999999 2.0 Uncertain significance 0 -178866 Simple 727504500 G . Uncertain significance 2 2 not specified 2017-04-24 -0.51 2.0 Uncertain significance 0 -178872 Simple 200372325 A . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-06-05 -11.1 1.6666666666666667 Benign/Likely benign 0 -178878 Simple 201019553 G . Uncertain significance 2 2 not specified 2017-04-18 -0.51 2.0 Uncertain significance 0 -178886 Simple 551600321 A . Likely benign 2 2 not specified 2016-12-08 -5.1 2.5 Likely benign 0 -178888 Simple 531661702 - . Benign 2 2 not specified;Cardiomyopathy 2013-12-21 -8.4 4.0 Benign/Likely benign 1 -178889 Simple 727504515 T . Uncertain significance 2 2 not specified 2015-07-23 -0.48 3.0 Uncertain significance 0 -178908 Simple 727504531 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G 2017-02-17 8.7 1.5 Pathogenic/Likely pathogenic 0 -178912 Simple 727504534 A . Benign/Likely benign 2 2 not specified 2017-01-09 -8.1 2.5 Likely benign 1 -178913 Simple 727504535 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-03-07 8.1 2.0 Likely pathogenic 1 -178915 Simple 142391957 C . Uncertain significance 2 3 not specified 2016-09-01 -0.72 3.0 Uncertain significance 0 -178923 Simple 727504543 T . Uncertain significance 2 2 not specified 2017-02-24 -0.51 2.5 Uncertain significance 0 -178929 Simple 375945405 C . Benign/Likely benign 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-06-21 -14.1 1.6666666666666667 Benign/Likely benign 0 -178935 Simple 727504549 C . Likely benign 2 3 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Cardiovascular phenotype 2015-09-08 -7.5 2.6666666666666665 Likely benign 0 -178944 Simple 727504556 - . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-12 -0.51 2.5 Uncertain significance 0 -178946 Simple 397516073 G . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy 2015-02-05 9.0 3.5 Pathogenic/Likely pathogenic 1 -178948 Simple 727504559 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 10;not specified 2017-07-25 -0.51 2.0 Uncertain significance 0 -178957 Simple 727504567 T . Likely pathogenic 2 3 Nonsyndromic hearing loss and deafness;not specified;not provided 2017-01-26 8.1 2.0 Likely pathogenic 0 -178963 Simple 727504571 C . Likely benign 2 2 not specified 2017-11-27 -6.0 0.0 Likely benign 0 -178972 Simple 727504578 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2016-12-22 -0.5700000000000001 1.5 Uncertain significance 0 -178974 Simple 727503299 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 10;not specified 2016-08-02 -0.51 2.5 Uncertain significance 0 -178978 Simple 727504583 A . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2016-08-02 -0.51 2.5 Uncertain significance 0 -178981 Simple 727504586 T . Uncertain significance 2 3 not specified 2015-09-22 -0.75 2.6666666666666665 Uncertain significance 0 -178983 Simple 727504588 AG . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-01 -0.51 2.0 Uncertain significance 0 -178985 Simple 727504590 T . Uncertain significance 2 3 not specified;Syncope;not provided;Hypertrophic cardiomyopathy 2015-10-29 -0.69 3.3333333333333335 Uncertain significance 0 -178993 Simple 797044512 T . Pathogenic/Likely pathogenic 2 2 Deafness, autosomal dominant 11;Usher syndrome, type 1;not specified 2016-10-12 7.2 2.5 Likely pathogenic 1 -178998 Simple 534567766 A . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2015-12-07 -0.69 3.3333333333333335 Uncertain significance 0 -179002 Simple 377506142 A . Uncertain significance 2 10 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.73 1.9 Uncertain significance 0 -179005 Simple 200562715 T . Likely benign 2 3 Long QT syndrome;not specified 2017-06-07 -8.1 1.6666666666666667 Likely benign 0 -179013 Simple 148894066 T . Likely benign 2 7 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-06-23 -20.1 1.2857142857142858 Benign/Likely benign 1 -179014 Simple 192561043 A . Benign/Likely benign 2 2 not specified 2015-07-21 -7.800000000000001 2.5 Likely benign 1 -179015 Simple 200246467 A . Uncertain significance 2 2 not specified;not provided 2013-12-12 -0.42 4.0 Uncertain significance 0 -179023 Simple 375169402 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-02-09 -0.51 2.5 Uncertain significance 0 -179032 Simple 372312912 T . Uncertain significance 2 3 not specified 2017-01-09 -0.81 2.0 Uncertain significance 0 -179033 Simple 59027673 A . Benign 2 2 Loeys-Dietz syndrome 2;not specified 2017-06-27 -10.2 2.0 Benign/Likely benign 1 -179037 Simple 200766837 G . Uncertain significance 2 2 not specified;Myopathy 2014-08-18 -0.48 3.0 Uncertain significance 0 -179040 Simple 374902148 T . Benign/Likely benign 2 2 not specified 2014-12-02 -6.9 3.5 Likely benign 1 -179044 Simple 372267046 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-01 -0.54 2.0 Uncertain significance 0 -179047 Simple 377037421 T . Uncertain significance 2 3 not specified 2016-02-02 -0.75 2.6666666666666665 Uncertain significance 0 -179048 Simple 371943746 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-03 -1.1099999999999999 1.75 Uncertain significance 0 -179049 Simple 72677216 T . Uncertain significance 2 2 not specified 2015-08-17 -0.51 2.5 Uncertain significance 0 -179050 Simple 730880350 AA . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-25 -7.2 2.5 Likely benign 1 -179052 Simple 374449452 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-06 -0.81 1.6666666666666667 Uncertain significance 0 -179054 Simple 375209098 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -0.78 2.0 Uncertain significance 0 -179059 Simple 185789611 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-20 -0.51 2.0 Uncertain significance 0 -179060 Simple 730880351 AA . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -179063 Simple 191358470 A . Benign/Likely benign 2 2 not specified 2016-02-04 -7.5 3.0 Likely benign 1 -179065 Simple 727504602 - . Uncertain significance 2 2 not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -179076 Simple 545343612 AA . Benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-08-07 -10.2 2.0 Benign/Likely benign 1 -179078 Simple 727504609 T . Uncertain significance 2 3 not specified 2017-03-17 -0.78 2.0 Uncertain significance 0 -179088 Simple 184654032 G . Likely benign 2 2 Pheochromocytoma;not specified 2016-06-14 -5.1 2.5 Likely benign 0 -179098 Simple 727504623 T . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-05-04 -7.2 2.6666666666666665 Likely benign 0 -179105 Simple 727504630 AT . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-04-10 -0.51 2.0 Uncertain significance 0 -179112 Simple 727504636 T . Benign/Likely benign 2 2 not specified 2017-01-06 -7.8 2.0 Likely benign 1 -179117 Simple 727504641 T . Uncertain significance 2 4 Noonan syndrome;not specified;Gingival fibromatosis 2016-06-27 -1.1099999999999999 1.75 Uncertain significance 0 -179122 Simple 546494522 A . Likely benign 2 2 not specified 2015-11-12 -4.800000000000001 3.0 Likely benign 0 -179139 Simple 727504660 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2014-05-22 6.6 3.5 Likely pathogenic 1 -179143 Simple 727504663 T . Likely benign 2 1 not specified 2013-09-05 . 4.0 . 0 -179151 Simple 730880354 TT . Benign 2 2 not specified 2015-03-11 -9.600000000000001 3.0 Benign/Likely benign 1 -179154 Simple 727504672 T . Uncertain significance 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.4899999999999998 1.7777777777777777 Uncertain significance 0 -179156 Simple 727504674 A . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2017-03-28 -0.51 2.0 Uncertain significance 0 -179158 Simple 727504676 T . Likely benign 2 2 not specified 2017-03-14 -5.1 2.0 Likely benign 0 -179161 Simple 727504678 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-09 -0.51 2.5 Uncertain significance 0 -179179 Simple 557350005 A . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-07 -8.1 2.5 Likely benign 1 -179185 Simple 570608843 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-07-01 -0.51 2.5 Uncertain significance 0 -179186 Simple 727504695 T . Uncertain significance 2 2 not specified 2016-12-21 -0.51 2.5 Uncertain significance 0 -179189 Simple 727504697 T . Uncertain significance 2 2 not specified;not provided 2013-10-14 -0.42 4.0 Uncertain significance 0 -179196 Simple 71578979 - . Benign 2 3 Primary dilated cardiomyopathy;not specified 2017-07-11 -16.2 1.6666666666666667 Benign/Likely benign 1 -179201 Simple 727504703 A . Uncertain significance 2 2 not specified 2015-10-23 -0.48 3.0 Uncertain significance 0 -179204 Simple 727504706 A . Uncertain significance 2 2 not specified 2015-11-20 -0.54 2.0 Uncertain significance 0 -179205 Simple 727504707 T . Uncertain significance 2 2 not specified 2016-08-01 -0.51 2.5 Uncertain significance 0 -179206 Simple 727504708 A . Likely benign 2 1 not specified 2013-09-07 . 4.0 . 0 -179209 Simple 727504711 T . Likely benign 2 1 not specified 2013-09-08 . 4.0 . 0 -179232 Simple 373501480 T . Uncertain significance 2 3 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -179242 Simple 201012865 A . Uncertain significance 2 3 not specified;not provided 2017-01-30 -0.75 2.6666666666666665 Uncertain significance 0 -179247 Simple 201749277 T . Uncertain significance 2 3 not specified;not provided;Catecholaminergic polymorphic ventricular tachycardia 2017-06-29 -0.72 2.6666666666666665 Uncertain significance 0 -179254 Simple 727504742 T . Pathogenic 2 2 Danon disease;not provided 2016-05-10 10.2 2.5 Pathogenic/Likely pathogenic 1 -179262 Simple 727504749 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-16 -5.1 2.5 Likely benign 0 -179275 Simple 727504756 . . Uncertain significance 2 2 not specified 2017-09-25 -0.51 2.0 Uncertain significance 0 -179276 Simple 727504757 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-12 -0.51 2.5 Uncertain significance 0 -179281 Simple 727504760 A . Uncertain significance 2 2 not specified 2015-03-30 -0.48 3.0 Uncertain significance 0 -179284 Simple 727504763 G . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2017-07-04 -0.5700000000000001 1.0 Uncertain significance 0 -179285 Simple 727503504 A . Pathogenic/Likely pathogenic 2 4 Cardiomyopathy, restrictive;Familial restrictive cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-07-20 20.7 1.0 Pathogenic 1 -179286 Simple 201594392 T . Likely benign 2 4 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-06-27 -11.1 1.25 Benign/Likely benign 1 -179288 Simple 727504765 C . Likely benign 2 2 not specified 2016-06-10 -5.1 2.5 Likely benign 0 -179293 Simple 727504769 C . Likely benign 2 2 Long QT syndrome;not specified 2016-12-03 -5.1 2.5 Likely benign 0 -179304 Simple 727504776 A . Likely benign 2 2 not specified 2016-10-07 -5.7 1.5 Likely benign 0 -179318 Simple 727504789 G . Uncertain significance 2 2 not specified 2015-01-15 -0.44999999999999996 3.5 Uncertain significance 0 -179334 Simple 727504797 - . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-10 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -179339 Simple 727504802 - . Pathogenic/Likely pathogenic 2 2 Primary ciliary dyskinesia;not provided 2015-09-23 7.5 3.0 Likely pathogenic 1 -179345 Simple 554938323 T . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -179358 Simple 748225 T . Benign/Likely benign 2 2 not specified;Hypohidrotic Ectodermal Dysplasia, Dominant 2016-06-14 -7.2 2.5 Likely benign 1 -179362 Simple 201472512 C . Uncertain significance 2 2 Pheochromocytoma;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -179366 Simple 71438488 CAGCAG . Benign 2 2 not specified 2016-05-31 -10.8 2.0 Benign/Likely benign 1 -179372 Simple 727504822 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-06-27 -0.51 2.0 Uncertain significance 0 -179373 Simple 727504823 A . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;not specified 2017-07-21 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -179378 Simple 727504827 T . Uncertain significance 2 2 not specified 2016-10-28 -0.54 2.0 Uncertain significance 0 -179379 Simple 727504828 - . Uncertain significance 2 2 not specified 2015-02-05 -0.44999999999999996 3.5 Uncertain significance 0 -179381 Simple 727504830 T . Uncertain significance 2 3 not specified 2018-01-26 -0.87 1.0 Uncertain significance 0 -179401 Simple 727504844 A . Uncertain significance 2 2 not specified 2017-01-08 -0.51 2.5 Uncertain significance 0 -179405 Simple 730880358 TT . Benign/Likely benign 2 1 not specified 2015-05-12 . 2.0 . 0 -179411 Simple 727504851 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-03-03 8.4 2.0 Pathogenic/Likely pathogenic 0 -179416 Simple 558670891 G . Uncertain significance 2 2 not specified;not provided 2016-01-05 -0.51 2.5 Uncertain significance 0 -179417 Simple 727504856 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2016-07-05 8.4 2.0 Pathogenic/Likely pathogenic 0 -179422 Simple 367751077 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-24 -0.51 2.5 Uncertain significance 0 -179423 Simple 530612211 C . Benign/Likely benign 2 6 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-06-14 -20.1 1.3333333333333333 Benign/Likely benign 0 -179429 Simple 201786158 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;not specified 2014-08-27 -0.44999999999999996 3.5 Uncertain significance 0 -179434 Simple 138599871 G . Uncertain significance 2 2 not specified 2017-06-19 -0.51 2.0 Uncertain significance 0 -179435 Simple 727504864 T . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy 2015-02-05 7.199999999999999 3.0 Likely pathogenic 1 -179436 Simple 201131315 G . Uncertain significance 2 3 not specified;not provided 2016-03-04 -0.69 3.3333333333333335 Uncertain significance 0 -179441 Simple 200325324 T . Uncertain significance 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-03 -0.51 2.5 Uncertain significance 0 -179455 Simple 727504877 A . Uncertain significance 2 2 not specified 2016-08-10 -0.51 2.5 Uncertain significance 0 -179459 Simple 565693539 A . Uncertain significance 2 2 not specified 2016-06-11 -0.51 2.5 Uncertain significance 0 -179463 Simple 564536939 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-31 -11.1 1.6666666666666667 Benign/Likely benign 0 -179471 Simple 727504885 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-03 -5.7 1.5 Likely benign 0 -179472 Simple 727504886 T . Likely benign 2 2 not specified 2016-03-07 -5.1 2.5 Likely benign 0 -179474 Simple 538726706 G . Likely benign 2 2 not specified 2016-03-25 -5.1 2.5 Likely benign 0 -179489 Simple 544554435 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-09-10 -0.51 2.5 Uncertain significance 0 -179517 Simple 727504918 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-21 -0.5700000000000001 1.0 Uncertain significance 0 -179531 Simple 727504930 T . Likely benign 2 2 not specified 2015-12-09 -4.800000000000001 3.0 Likely benign 0 -179542 Simple 549796389 T . Uncertain significance 2 2 not specified 2015-08-24 -0.48 3.0 Uncertain significance 0 -179547 Simple 727504940 G . Likely benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2016-12-13 -5.1 2.5 Likely benign 0 -179548 Simple 727504941 G . Likely benign 2 2 not specified 2017-10-19 -5.1 2.0 Likely benign 0 -179549 Simple 201596087 A . Uncertain significance 2 3 not specified 2017-03-02 -0.81 2.0 Uncertain significance 0 -179553 Simple 727504944 C . Uncertain significance 2 2 not specified 2014-08-21 -0.39 4.5 Uncertain significance 0 -179577 Simple 727504961 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-19 -0.72 3.0 Uncertain significance 0 -179578 Simple 727504962 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-19 -0.51 2.5 Uncertain significance 0 -179579 Simple 71438488 CAGCAGCAGCAG . Benign/Likely benign 2 1 not specified 2014-09-25 . 3.0 . 0 -179591 Simple 727504972 A . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -179594 Simple 727504975 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-14 -5.4 1.5 Likely benign 0 -179600 Simple 727504980 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-12 -5.4 2.0 Likely benign 0 -179601 Simple 727504981 C . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -179613 Simple . . . Uncertain significance 2 2 Costello syndrome;not specified 2016-10-16 -0.54 2.0 Uncertain significance 0 -179615 Simple 534216019 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -179621 Simple 552643559 - . Benign 2 2 not specified 2016-07-28 -10.2 2.5 Benign/Likely benign 1 -179632 Simple 727505006 A . Pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-12-19 16.8 1.0 Pathogenic 0 -179635 Simple 199702315 - . Benign/Likely benign 2 3 Hermansky-Pudlak syndrome;Hermansky Pudlak syndrome 2;not specified 2017-07-31 -13.8 1.3333333333333333 Benign/Likely benign 0 -179646 Simple 727505018 T . Benign/Likely benign 2 2 not specified 2014-12-19 -7.199999999999999 3.0 Likely benign 1 -179647 Simple 727505019 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-09 -0.54 1.5 Uncertain significance 0 -179648 Simple 727505020 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-25 -0.54 2.0 Uncertain significance 0 -179649 Simple 727505021 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-18 -10.2 2.3333333333333335 Benign/Likely benign 0 -179653 Simple 530979771 A . Uncertain significance 2 2 not specified 2016-07-27 -0.54 2.0 Uncertain significance 0 -179668 Simple 727505037 A . Uncertain significance 2 4 Primary dilated cardiomyopathy;Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 2017-08-01 -1.14 0.75 Uncertain significance 0 -179677 Simple 727505046 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-25 -5.4 2.0 Likely benign 0 -179685 Simple 727505052 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-18 -0.75 2.6666666666666665 Uncertain significance 0 -179686 Simple 727505053 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-31 -0.54 2.0 Uncertain significance 0 -179691 Simple 727505057 G . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -179692 Simple 730880365 TT . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2016-07-26 8.4 2.0 Pathogenic/Likely pathogenic 0 -179693 Simple 727505058 C . Likely benign 2 2 not specified 2016-12-05 -5.4 2.0 Likely benign 0 -179699 Simple 78853309 G . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2017-04-29 -0.54 1.5 Uncertain significance 0 -179707 Simple 727505067 A . Uncertain significance 2 4 Dilated cardiomyopathy 1DD;not specified;Dilated Cardiomyopathy, Dominant 2017-07-12 -1.08 1.75 Uncertain significance 0 -179715 Simple 562273075 G . Likely benign 2 2 not specified 2017-02-16 -5.4 2.0 Likely benign 0 -179718 Simple 727505075 - . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -0.54 1.5 Uncertain significance 0 -179731 Simple 200635365 G . Uncertain significance 2 2 not specified 2016-05-19 -0.54 2.0 Uncertain significance 0 -179737 Simple 533651182 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-20 -0.54 1.5 Uncertain significance 0 -179738 Simple 727505092 A . Likely benign 2 2 not specified 2016-11-21 -5.4 2.0 Likely benign 0 -179752 Simple 727505101 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-09 -5.4 1.5 Likely benign 0 -179753 Simple 727505102 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-27 -0.54 1.5 Uncertain significance 0 -179756 Simple 570878629 A . Uncertain significance 2 5 Naxos disease;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-05-15 -1.38 1.6 Uncertain significance 0 -179759 Simple 557312035 C . Likely pathogenic 2 2 Primary dilated cardiomyopathy 2015-06-04 5.1 2.5 Likely pathogenic 0 -179760 Simple 536611911 T . Uncertain significance 2 3 not specified;Rasopathy 2017-04-21 -0.84 1.3333333333333333 Uncertain significance 0 -179764 Simple 727505109 - . Likely pathogenic 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1HH 2016-06-02 5.4 2.0 Likely pathogenic 0 -179771 Simple 184522105 A . Likely benign 2 2 not specified 2016-04-14 -5.4 2.0 Likely benign 0 -179775 Simple 552027921 G . Benign/Likely benign 2 2 not specified 2015-09-17 -7.800000000000001 2.5 Likely benign 1 -179782 Simple 727505123 A . Uncertain significance 2 4 not specified;Hidrotic ectodermal dysplasia;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.14 1.5 Uncertain significance 0 -179790 Simple 371567712 T . Likely benign 2 2 not specified;Rasopathy 2017-05-02 -5.7 1.0 Likely benign 0 -179803 Simple 201180712 A . Uncertain significance 2 2 not specified 2017-01-24 -0.54 2.0 Uncertain significance 0 -179809 Simple 111569862 A . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Limb-girdle muscular dystrophy, type 1B;not provided 2016-02-09 11.4 3.3333333333333335 Pathogenic/Likely pathogenic 0 -179810 Simple 531432790 T . Uncertain significance 2 2 not specified 2016-09-23 -0.54 2.0 Uncertain significance 0 -179829 Simple 727505158 - . Pathogenic 2 3 Brugada syndrome;not provided 2017-09-27 17.4 0.6666666666666666 Pathogenic 0 -179836 Simple 727505163 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-10 -0.84 1.6666666666666667 Uncertain significance 0 -179842 Simple 201171064 G . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -179849 Simple 386802145 TTA . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2016-07-02 -0.54 2.0 Uncertain significance 0 -179851 Simple 727505170 T . Likely benign 2 2 not specified 2016-09-28 -5.4 2.0 Likely benign 0 -179857 Simple 727505175 G . Uncertain significance 2 2 Cardiomyopathy;not specified 2014-08-29 -0.48 3.0 Uncertain significance 0 -179860 Simple 727505177 T . Likely benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-03-16 -8.4 1.3333333333333333 Benign/Likely benign 1 -179864 Simple 566157802 A . Likely benign 2 2 not specified 2016-12-05 -5.4 2.0 Likely benign 0 -179884 Simple 727505194 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-05-22 -0.54 2.0 Uncertain significance 0 -179895 Simple 727505203 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-11-17 -5.4 2.0 Likely benign 0 -179904 Simple 727505210 A . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-27 -8.4 1.6666666666666667 Benign/Likely benign 1 -179911 Simple 727505215 T . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-02 -11.4 1.6666666666666667 Benign/Likely benign 0 -179915 Simple 531732438 A . Uncertain significance 2 2 not specified 2017-04-13 -0.54 1.5 Uncertain significance 0 -179917 Simple 727505220 T . Likely benign 2 2 not specified 2016-09-29 -5.4 2.0 Likely benign 0 -179926 Simple 374613600 A . Uncertain significance 2 2 not specified;not provided 2014-12-31 -0.44999999999999996 3.5 Uncertain significance 0 -179928 Simple 727505228 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2016-10-05 -5.4 2.0 Likely benign 0 -179929 Simple 529442984 A . Benign/Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-02-07 -11.4 1.6666666666666667 Benign/Likely benign 0 -179945 Simple 727505236 - . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -179946 Simple 75792246 G . Benign/Likely benign 2 3 not specified 2016-09-20 -14.100000000000001 1.6666666666666667 Benign/Likely benign 0 -179948 Simple 141073777 - . Benign/Likely benign 2 1 not specified 2014-09-24 . 3.0 . 0 -179954 Simple 727505241 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-31 -0.54 2.0 Uncertain significance 0 -179958 Simple 541918040 C . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -179973 Simple 727505254 T . Uncertain significance 2 5 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2017-01-06 -1.44 1.4 Uncertain significance 0 -179988 Simple 727505266 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-04-11 -0.54 2.0 Uncertain significance 0 -179990 Simple 727505268 G . Uncertain significance 2 2 not specified 2015-04-10 -0.51 2.5 Uncertain significance 0 -180000 Simple 566634291 A . Benign/Likely benign 2 2 not specified 2014-12-10 -7.199999999999999 3.0 Likely benign 1 -180002 Simple 727505276 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-13 -0.54 1.5 Uncertain significance 0 -180004 Simple 727505278 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-13 -5.4 1.5 Likely benign 0 -180006 Simple 727505280 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-04-19 -0.84 1.6666666666666667 Uncertain significance 0 -180010 Simple 727505284 A . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2016-05-11 8.7 1.5 Pathogenic/Likely pathogenic 0 -180016 Simple 529107714 T . Likely benign 2 2 not specified 2015-02-05 -4.8 3.0 Likely benign 0 -180023 Simple 727505293 C . Likely benign 2 2 not specified 2016-10-03 -5.4 2.0 Likely benign 0 -180024 Simple 727505294 A . Uncertain significance 2 7 Familial hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Dilated cardiomyopathy 1S;Myopathy, distal, 1;not specified 2017-08-01 -2.04 0.5714285714285714 Uncertain significance 0 -180027 Simple 538308579 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-31 -0.54 1.5 Uncertain significance 0 -180037 Simple 727505303 - . Benign/Likely benign 2 3 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -180039 Simple 112989722 C . Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-01-20 5.7 1.5 Likely pathogenic 0 -180041 Simple 727505306 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-05 -0.84 1.3333333333333333 Uncertain significance 0 -180042 Simple 727505307 A . Likely benign 2 2 not specified 2016-12-21 -5.4 2.0 Likely benign 0 -180045 Simple 727505310 T . Uncertain significance 2 2 not specified 2017-04-04 -0.5700000000000001 1.0 Uncertain significance 0 -180054 Simple 727505316 C . Uncertain significance 2 2 not specified 2017-02-20 -0.5700000000000001 1.5 Uncertain significance 0 -180056 Simple 727505318 T . Likely benign 2 3 Dilated cardiomyopathy 1DD;not specified 2017-10-31 -8.4 1.0 Benign/Likely benign 1 -180058 Simple 727505319 G . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;not provided 2017-05-09 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -180063 Simple 727505321 A . Benign/Likely benign 2 2 not specified 2015-05-29 -5.1 2.5 Likely benign 1 -180067 Simple 727505325 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-12-15 -0.5700000000000001 1.5 Uncertain significance 0 -180079 Simple 727505333 A . Uncertain significance 2 2 not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -180083 Simple 727505336 C . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 1;not specified 2016-12-05 -0.54 2.0 Uncertain significance 0 -180092 Simple 727505343 - . Pathogenic/Likely pathogenic 2 4 Usher syndrome, type 2A;Retinitis pigmentosa 39;not provided 2016-11-30 14.4 1.25 Pathogenic/Likely pathogenic 0 -180093 Simple 201469656 A . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-05-13 -5.4 2.0 Likely benign 0 -180098 Simple 727505347 A . Uncertain significance 2 2 not specified 2014-11-24 -0.44999999999999996 3.5 Uncertain significance 0 -180102 Simple 727505350 A . Uncertain significance 2 3 not specified 2017-11-08 -0.84 1.3333333333333333 Uncertain significance 0 -180103 Simple 200544452 C . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -180111 Simple 539250948 T . Likely benign 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-07-05 -8.4 1.3333333333333333 Benign/Likely benign 1 -180115 Simple 727505357 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-04-18 -0.54 1.5 Uncertain significance 0 -180116 Simple 727505358 A . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-07-27 -11.1 1.6666666666666667 Benign/Likely benign 0 -180117 Simple 201748657 A . Likely benign 2 2 not specified 2016-08-08 -5.4 2.0 Likely benign 0 -180193 Simple 727503769 T . Pathogenic 2 2 Cornelia de Lange syndrome 1 2017-02-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -180272 Simple 142078935 A . Likely benign 2 4 Long QT syndrome;not specified;not provided 2017-04-20 -10.8 1.75 Benign/Likely benign 1 -180279 Simple 1042023 C . Benign/Likely benign 2 6 Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;not provided;Hypobetalipoproteinemia, familial, 1 2017-08-22 -23.4 0.8333333333333334 Benign/Likely benign 0 -180282 Simple 730880054 T . Uncertain significance 2 3 Myofibrillar myopathy, BAG3-related;Primary familial hypertrophic cardiomyopathy;Dilated cardiomyopathy 1HH;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2016-10-16 -0.8999999999999999 1.0 Uncertain significance 0 -180291 Simple 200174877 T . Uncertain significance 2 2 Brugada syndrome 4;Cardiac arrest;Cardiovascular phenotype 2017-01-24 -0.5700000000000001 1.5 Uncertain significance 0 -180298 Simple 150147262 T . Uncertain significance 2 2 Aortic valve disorder;Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -0.6 0.5 Uncertain significance 0 -180326 Simple 730880082 T . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided;Cardiac arrest 2017-01-17 7.8 3.0 Likely pathogenic 1 -180336 Simple 149513743 G . Uncertain significance 2 6 Primary dilated cardiomyopathy;Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-04-12 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -180351 Simple 112645512 A . Pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2017-02-24 18.0 1.0 Pathogenic 0 -180352 Simple 730880099 A . Pathogenic 2 3 Marfan syndrome;not specified;not provided 2017-03-23 17.4 1.0 Pathogenic 0 -180370 Simple 560874115 C . Uncertain significance 2 3 Brugada syndrome 8;Brugada syndrome;not specified 2017-07-27 -0.84 1.3333333333333333 Uncertain significance 0 -180379 Simple 730880116 A . Pathogenic 2 2 Long QT syndrome 2;Long QT syndrome;not provided 2017-06-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -180382 Simple 730880118 T . Uncertain significance 2 2 Long QT syndrome;Cardiovascular phenotype 2016-12-17 -0.51 2.5 Uncertain significance 0 -180383 Simple 189014161 A . Pathogenic 2 2 Long QT syndrome 2;Long QT syndrome;not provided 2017-05-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -180402 Simple 730880130 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -180417 Simple 369196744 G . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;Marfan syndrome 2016-06-21 -0.5700000000000001 1.5 Uncertain significance 0 -180420 Simple 730880147 - . Uncertain significance 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-02 -0.8999999999999999 0.0 Uncertain significance 0 -180432 Simple 730880156 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy 2017-03-02 -0.6 1.0 Uncertain significance 0 -180438 Simple 730880161 T . Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2015-11-09 5.4 2.0 Likely pathogenic 0 -180456 Simple 200071700 C . Likely benign 2 3 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified 2017-07-10 -8.7 0.6666666666666666 Benign/Likely benign 1 -180512 Simple 146848219 T . Uncertain significance 2 9 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-10-20 -2.6999999999999997 0.7777777777777778 Uncertain significance 0 -180544 Simple 139842014 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 5;Cardiomyopathy;not specified 2017-09-28 -0.6 0.5 Uncertain significance 0 -180545 Simple 730880226 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 5;Cardiomyopathy 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -180562 Simple 148763371 G . Uncertain significance 2 2 Progressive familial heart block type 1B;Long QT syndrome;not specified 2017-07-31 -0.6 0.5 Uncertain significance 0 -180569 Simple 199557654 C . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-27 -2.55 1.5555555555555556 Uncertain significance 0 -180573 Simple 574660186 A . Pathogenic/Likely pathogenic 2 10 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2017-06-06 33.300000000000004 1.7 Pathogenic 1 -180582 Simple 573843615 - . Conflicting interpretations of pathogenicity 1 3 Dilated cardiomyopathy 1G;Familial hypertrophic cardiomyopathy 1;Limb-girdle muscular dystrophy, type 2J;not specified;Left ventricular noncompaction cardiomyopathy 2017-06-07 -3.6 0.0 Uncertain significance 0 -180588 Simple 730880251 A . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-10 -0.6 0.0 Uncertain significance 0 -180651 Simple 201958741 T . Pathogenic/Likely pathogenic 2 2 Polyglucosan body disease, adult;not provided;Adult polyglucosan body neuropathy 2017-07-17 9.0 0.5 Pathogenic/Likely pathogenic 0 -180697 Simple 730880287 GGC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -180698 Simple 730880288 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -180765 Simple 730880399 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-11-11 -0.51 2.5 Uncertain significance 0 -180800 Simple 142475018 A . Uncertain significance 2 2 not specified 2017-07-03 -0.6 0.5 Uncertain significance 0 -180811 Simple 730880429 T . Uncertain significance 2 2 not specified;Rasopathy 2017-03-14 -0.54 1.5 Uncertain significance 0 -180815 Simple 397517076 T . Pathogenic 2 2 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;not provided 2016-01-26 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -180818 Simple 730880433 T . Uncertain significance 2 2 not provided;Rasopathy 2017-04-17 -0.6 0.5 Uncertain significance 0 -180820 Simple 727504640 A . Uncertain significance 2 2 not specified;Rasopathy 2017-02-13 -0.54 2.0 Uncertain significance 0 -180841 Simple 730880450 T . Pathogenic 2 2 not provided 2015-09-14 9.0 3.5 Pathogenic/Likely pathogenic 1 -180843 Simple 730880452 A . Pathogenic 2 2 Fabry disease;not provided 2017-03-06 11.4 1.0 Pathogenic/Likely pathogenic 1 -180844 Simple 730880453 - . Pathogenic 2 2 Fabry disease;not provided 2016-02-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -180845 Simple 730880454 - . Pathogenic 2 2 Fabry disease;not provided 2014-07-29 8.4 4.0 Pathogenic/Likely pathogenic 1 -180847 Simple 730880456 A . Benign/Likely benign 2 2 Costello syndrome;not specified 2016-11-07 -7.8 2.0 Likely benign 1 -180856 Simple 142218590 T . Uncertain significance 2 2 Costello syndrome;not specified 2017-06-05 -0.6 0.5 Uncertain significance 0 -180861 Simple 730880473 A . Uncertain significance 2 3 Noonan syndrome;not specified;Cardio-facio-cutaneous syndrome 2017-10-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -180871 Simple 149276836 T . Uncertain significance 2 2 not specified 2016-07-21 -0.54 2.0 Uncertain significance 0 -180874 Simple 730880483 T . Pathogenic/Likely pathogenic 2 2 Danon disease;not provided 2017-09-19 8.7 1.0 Pathogenic/Likely pathogenic 0 -180882 Simple 139633545 G . Uncertain significance 2 2 not specified 2015-10-23 -0.54 2.0 Uncertain significance 0 -180896 Simple 151207265 A . Uncertain significance 2 2 not specified 2017-05-12 -0.5700000000000001 1.0 Uncertain significance 0 -180900 Simple 730880500 A . Uncertain significance 2 2 not specified;Rasopathy 2017-03-23 -0.51 2.0 Uncertain significance 0 -180902 Simple 730880505 A . Uncertain significance 2 2 not specified 2015-10-22 -0.51 2.5 Uncertain significance 0 -180905 Simple 370799450 A . Likely benign 3 2 not specified;Rasopathy 2017-05-09 -3.54 1.5 Uncertain significance 2 -180918 Simple 730880527 C . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2016-04-26 -0.5700000000000001 1.5 Uncertain significance 0 -180923 Simple 368035400 A . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-06-10 -7.8 2.0 Likely benign 1 -180925 Simple 730880531 C . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2015-08-18 7.800000000000001 2.5 Likely pathogenic 1 -180929 Simple 730880535 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-24 -0.6 0.5 Uncertain significance 0 -180946 Simple 730880549 T . Uncertain significance 2 2 not specified 2016-11-03 -0.5700000000000001 1.5 Uncertain significance 0 -180978 Simple 730880572 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-09-12 -0.6 0.5 Uncertain significance 0 -180988 Simple 534282225 A . Uncertain significance 2 2 not specified;not provided 2014-06-03 -0.44999999999999996 3.5 Uncertain significance 0 -180992 Simple 375776406 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-08-30 -0.87 1.0 Uncertain significance 0 -181000 Simple 374255381 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-28 -0.6 0.5 Uncertain significance 0 -181003 Simple 571457875 A . Uncertain significance 2 2 not specified 2017-06-23 -0.5700000000000001 1.0 Uncertain significance 0 -181007 Simple 387906397 G . Pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-02-03 9.6 3.0 Pathogenic/Likely pathogenic 1 -181014 Simple 730880596 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Peripheral neuropathy 2016-08-22 -0.84 1.6666666666666667 Uncertain significance 0 -181015 Simple 730880597 T . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2015-11-13 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -181018 Simple 528940575 G . Uncertain significance 2 2 not specified 2015-03-23 -0.45 3.5 Uncertain significance 0 -181021 Simple 730880602 C . Uncertain significance 2 2 not specified 2015-11-30 -0.51 2.5 Uncertain significance 0 -181025 Simple 730880606 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-09-13 -0.51 2.5 Uncertain significance 0 -181026 Simple 370338674 A . Uncertain significance 2 4 not specified;Cardiovascular phenotype 2017-05-22 -1.1400000000000001 1.25 Uncertain significance 0 -181030 Simple 730880610 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-01-25 -0.8999999999999999 1.0 Uncertain significance 0 -181033 Simple 730880613 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-12-26 -0.6 1.0 Uncertain significance 0 -181040 Simple 569740494 T . Uncertain significance 2 2 not specified 2017-04-26 -0.51 2.0 Uncertain significance 0 -181041 Simple 730880620 T . Pathogenic/Likely pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-08-04 7.8 1.5 Likely pathogenic 1 -181049 Simple 730880626 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-31 -0.51 2.0 Uncertain significance 0 -181052 Simple 371711564 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-04-30 -0.6 0.5 Uncertain significance 0 -181055 Simple 730880630 A . Uncertain significance 2 5 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-04-06 -1.47 1.0 Uncertain significance 0 -181066 Simple 730880639 T . Pathogenic/Likely pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-07-12 6.6 2.5 Likely pathogenic 1 -181067 Simple 730880640 - . Pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-03-12 10.2 2.0 Pathogenic/Likely pathogenic 1 -181070 Simple 730880643 - . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-01-18 -0.6 1.0 Uncertain significance 0 -181072 Simple 727503197 - . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-10-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -181076 Simple 730880649 TT . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 1;not provided 2015-06-18 9.0 3.5 Pathogenic/Likely pathogenic 0 -181078 Simple 730880651 - . Pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2016-04-21 10.8 2.0 Pathogenic/Likely pathogenic 1 -181079 Simple 730880652 - . Pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-11-10 12.0 0.0 Pathogenic/Likely pathogenic 1 -181080 Simple 730880653 - . Pathogenic/Likely pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-06-27 8.7 1.0 Pathogenic/Likely pathogenic 0 -181091 Simple 730880664 - . Pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-05-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -181114 Simple 730880686 - . Pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-05-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -181129 Simple 200406864 A . Uncertain significance 2 3 not specified;not provided;Hypertrophic cardiomyopathy 2017-08-04 -0.78 2.0 Uncertain significance 0 -181130 Simple 374946555 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -181132 Simple 730880698 C . Pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2016-03-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -181147 Simple 730880711 GG . Pathogenic/Likely pathogenic 2 1 Familial hypertrophic cardiomyopathy 4;Cardiomyopathy 2011-12-07 . 6.0 . 0 -181159 Simple 730880723 TT . Pathogenic/Likely pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2016-12-20 11.4 1.5 Pathogenic/Likely pathogenic 0 -181161 Simple 554560162 G . Benign/Likely benign 2 8 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -25.5 1.375 Benign 1 -181163 Simple 730880725 A . Likely benign 2 2 not specified;not provided 2016-07-31 -4.8 3.0 Likely benign 0 -181165 Simple 730880727 T . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-16 -7.8 1.5 Likely benign 1 -181166 Simple 373145667 A . Benign/Likely benign 2 7 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -22.8 1.2857142857142858 Benign/Likely benign 0 -181171 Simple 606231332 G . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-11-18 -0.54 2.0 Uncertain significance 0 -181176 Simple 727504299 A . Pathogenic/Likely pathogenic 2 1 Familial hypertrophic cardiomyopathy 1;not provided 2012-05-11 . 5.0 . 0 -181192 Simple 730880746 G . Uncertain significance 2 2 not specified 2016-01-29 -0.45 3.5 Uncertain significance 0 -181217 Simple 730880770 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-04-06 -0.6 0.5 Uncertain significance 0 -181227 Simple 730880778 T . Uncertain significance 2 2 not specified 2017-05-18 -0.51 2.0 Uncertain significance 0 -181237 Simple 730880786 C . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2016-05-26 -0.72 3.0 Uncertain significance 0 -181244 Simple 730880792 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-11-04 -0.54 2.0 Uncertain significance 0 -181256 Simple 139646545 A . Uncertain significance 2 2 not specified;not provided 2017-05-01 -0.6 0.5 Uncertain significance 0 -181269 Simple 145822086 G . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-02 -0.6 0.0 Uncertain significance 0 -181288 Simple 730880824 C . Uncertain significance 2 9 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-01-26 -2.61 1.3333333333333333 Uncertain significance 0 -181290 Simple 397516253 T . Uncertain significance 2 7 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-10-28 -2.1 1.0 Uncertain significance 0 -181297 Simple 730880830 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-04-12 -0.78 2.0 Uncertain significance 0 -181302 Simple 730880834 T . Uncertain significance 2 2 not specified 2017-01-19 -0.5700000000000001 1.5 Uncertain significance 0 -181308 Simple 730880840 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2015-08-19 -0.45 3.5 Uncertain significance 0 -181320 Simple 730880850 T . Pathogenic/Likely pathogenic 2 4 Primary dilated cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Cardiomyopathy, left ventricular noncompaction 2017-01-18 18.6 2.0 Pathogenic 1 -181327 Simple 730880856 G . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-05-23 7.8 1.5 Likely pathogenic 1 -181343 Simple 730880159 C . Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2016-07-02 8.4 1.6666666666666667 Pathogenic/Likely pathogenic 1 -181374 Simple 730880899 G . Uncertain significance 2 2 not specified 2016-10-05 -0.5700000000000001 1.5 Uncertain significance 0 -181376 Simple 397516162 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-01-05 -0.8099999999999999 2.0 Uncertain significance 0 -181397 Simple 730880918 A . Uncertain significance 2 4 Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-11-08 -1.08 1.5 Uncertain significance 0 -181402 Simple 730880923 T . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 1;not specified;Hypertrophic cardiomyopathy 2017-05-12 -0.87 0.6666666666666666 Uncertain significance 0 -181424 Simple 730880943 T . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 10;not specified;Cardiovascular phenotype 2017-09-05 -0.87 1.0 Uncertain significance 0 -181427 Simple 730880945 G . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 10;not specified 2017-07-05 -0.6 0.0 Uncertain significance 0 -181448 Simple 730880961 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-03-21 -0.5700000000000001 1.5 Uncertain significance 0 -181455 Simple 369368181 A . Pathogenic/Likely pathogenic 2 3 Niemann-Pick disease type C1 2017-07-27 11.4 1.0 Pathogenic/Likely pathogenic 0 -181457 Simple 543206298 A . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease type C1;not provided 2017-01-13 8.4 2.0 Pathogenic/Likely pathogenic 0 -181477 Simple 730880978 G . Uncertain significance 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -181483 Simple 730880984 A . Uncertain significance 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2016-01-27 -0.51 2.5 Uncertain significance 0 -181500 Simple 572274623 G . Uncertain significance 2 2 not specified;Cardio-facio-cutaneous syndrome 2017-08-22 -0.54 1.5 Uncertain significance 0 -181509 Simple 559632360 T . Benign 3 2 not specified;Rasopathy 2017-04-18 -6.81 2.0 Likely benign 2 -181510 Simple 368796800 T . Uncertain significance 2 2 not specified;Rasopathy 2016-06-28 -0.51 2.5 Uncertain significance 0 -181512 Simple 730881004 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2016-06-27 -0.5700000000000001 1.5 Uncertain significance 0 -181513 Simple 730881005 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-07-17 -0.48 3.0 Uncertain significance 0 -181515 Simple 730881007 A . Uncertain significance 2 2 not specified;Rasopathy 2017-03-06 -0.54 1.5 Uncertain significance 0 -181519 Simple 1749409 A . Benign 2 2 not specified 2015-08-17 -10.2 2.5 Benign/Likely benign 1 -181522 Simple 730881014 C . Pathogenic 2 2 Noonan syndrome;not provided;Noonan syndrome 8 2017-09-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -181524 Simple 730881016 - . Benign/Likely benign 2 2 Noonan syndrome-like disorder with loose anagen hair 1;not specified;Rasopathy 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -181525 Simple 143187497 C . Benign/Likely benign 2 2 Noonan syndrome-like disorder with loose anagen hair 1;not specified 2016-07-28 -9.0 1.0 Benign/Likely benign 0 -181526 Simple 730881018 C . Likely benign 3 2 not specified;Rasopathy 2017-04-18 -3.51 2.0 Uncertain significance 2 -181528 Simple 730881020 A . Uncertain significance 3 2 Noonan syndrome-like disorder with loose anagen hair 1;not specified;Rasopathy 2017-04-03 -0.63 0.5 Uncertain significance 0 -181538 Simple 397517158 C . Uncertain significance 2 2 not specified;Rasopathy 2017-07-11 -0.51 2.0 Uncertain significance 0 -181557 Simple 371024396 C . Uncertain significance 2 2 not specified;Rasopathy 2017-07-13 -0.6 0.5 Uncertain significance 0 -181560 Simple 730881056 C . Uncertain significance 2 2 Dilated cardiomyopathy 1Z;Familial hypertrophic cardiomyopathy 13;not specified 2016-10-16 -0.54 2.0 Uncertain significance 0 -181576 Simple 730881069 T . Pathogenic/Likely pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2015-01-05 7.199999999999999 3.0 Likely pathogenic 1 -181579 Simple 184709702 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-02-06 -0.45 3.5 Uncertain significance 0 -181609 Simple 730881095 C . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-04-06 -0.6 0.5 Uncertain significance 0 -181626 Simple 730881107 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-04-24 -0.6 0.5 Uncertain significance 0 -181635 Simple 730881115 - . Uncertain significance 2 2 Left ventricular noncompaction 6;not specified 2017-08-07 -0.6 0.5 Uncertain significance 0 -181682 Simple 730881155 - . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy 2017-03-17 -0.78 2.0 Uncertain significance 0 -181695 Simple 730881164 C . Uncertain significance 2 2 not specified 2017-03-07 -0.6 0.5 Uncertain significance 0 -181696 Simple 730881165 A . Uncertain significance 2 3 not specified 2016-10-04 -0.78 2.3333333333333335 Uncertain significance 0 -181697 Simple 138657343 A . Uncertain significance 2 3 Amyloidogenic transthyretin amyloidosis;not specified;Cardiovascular phenotype 2017-07-12 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -181698 Simple 148538950 A . Uncertain significance 2 2 Amyloidogenic transthyretin amyloidosis;not specified 2017-07-17 -0.6 0.5 Uncertain significance 0 -181706 Simple 536294863 G . Likely benign 2 2 Amyloidogenic transthyretin amyloidosis;not specified 2016-12-22 -6.0 1.0 Likely benign 0 -181712 Simple 149035844 A . Likely benign 2 3 Mowat-Wilson syndrome;not specified 2017-06-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -181715 Simple 730881178 C . Likely benign 2 3 Mowat-Wilson syndrome;not specified;not provided 2017-09-14 -9.0 0.0 Benign/Likely benign 1 -181724 Simple 201109457 A . Benign/Likely benign 2 3 Mowat-Wilson syndrome;not specified 2017-06-08 -11.4 1.3333333333333333 Benign/Likely benign 0 -181737 Simple 147693839 T . Uncertain significance 2 3 Mowat-Wilson syndrome;not specified 2017-05-23 -0.78 2.0 Uncertain significance 0 -181766 Simple 535800148 A . Benign 3 2 not specified;Rasopathy 2017-04-18 -6.84 1.5 Likely benign 2 -181771 Simple 730881225 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-21 -0.87 1.3333333333333333 Uncertain significance 0 -181773 Simple 150140908 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -181775 Simple 730881228 - . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2015-05-12 10.2 2.5 Pathogenic/Likely pathogenic 1 -181776 Simple 730881229 - . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.2 0.0 Uncertain significance 0 -181777 Simple 368494354 G . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-23 -12.9 2.0 Benign/Likely benign 0 -181778 Simple 72541810 T . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -19.2 1.4 Benign/Likely benign 0 -181779 Simple 183468041 C . Benign/Likely benign 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-25 -25.2 1.3333333333333333 Benign 1 -181781 Simple 730881230 - . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -15.6 2.25 Benign/Likely benign 0 -181782 Simple 116020626 G . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -25.2 1.2857142857142858 Benign 1 -181783 Simple 730881231 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.14 1.0 Uncertain significance 0 -181785 Simple 730881233 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.2 0.25 Uncertain significance 0 -181786 Simple 730881234 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-28 -0.6 1.0 Uncertain significance 0 -181787 Simple 730881235 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.25 Uncertain significance 0 -181788 Simple 730881236 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-17 -0.54 1.5 Uncertain significance 0 -181790 Simple 730881238 T . Conflicting interpretations of pathogenicity 1 2 Familial adenomatous polyposis 1;not specified;not provided 2017-07-19 -0.6 0.5 Uncertain significance 0 -181791 Simple 730881239 C . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -1.35 1.8 Uncertain significance 0 -181792 Simple 730881240 T . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2016-12-21 10.8 2.0 Pathogenic/Likely pathogenic 1 -181793 Simple 138498551 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -1.1400000000000001 1.25 Uncertain significance 0 -181795 Simple 730881241 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2015-10-31 -0.51 2.5 Uncertain significance 0 -181797 Simple 730881243 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -0.84 1.3333333333333333 Uncertain significance 0 -181798 Simple 370591349 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-11 -0.81 2.0 Uncertain significance 0 -181799 Simple 730881244 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-16 -1.2 0.75 Uncertain significance 0 -181800 Simple 730881245 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-20 -0.6 0.5 Uncertain significance 0 -181801 Simple 201550951 C . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.38 1.2 Uncertain significance 0 -181802 Simple 730881246 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-01-23 -0.5700000000000001 1.5 Uncertain significance 0 -181805 Simple 730881249 T . Uncertain significance 2 6 Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.77 0.6666666666666666 Uncertain significance 0 -181807 Simple 730881251 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-05-01 -0.84 1.3333333333333333 Uncertain significance 0 -181808 Simple 371067258 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-24 -0.81 1.6666666666666667 Uncertain significance 0 -181810 Simple 730881253 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.2 0.75 Uncertain significance 0 -181811 Simple 370532497 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -1.44 1.0 Uncertain significance 0 -181812 Simple 730881254 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-18 -0.81 1.6666666666666667 Uncertain significance 0 -181813 Simple 730881255 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.78 2.0 Uncertain significance 0 -181814 Simple 374597207 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -181815 Simple 730881256 G . Uncertain significance 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.7999999999999998 0.6666666666666666 Uncertain significance 0 -181816 Simple 730881257 A . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -1.5 0.8 Uncertain significance 0 -181819 Simple 730881260 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.2 0.5 Uncertain significance 0 -181820 Simple 730881261 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2015-10-26 -0.51 2.5 Uncertain significance 0 -181821 Simple 730881262 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-17 -0.5700000000000001 1.5 Uncertain significance 0 -181823 Simple 730881264 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.84 1.3333333333333333 Uncertain significance 0 -181824 Simple 730881265 T . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.5 0.2 Uncertain significance 0 -181826 Simple 730881267 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -0.5700000000000001 1.0 Uncertain significance 0 -181828 Simple 730881269 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-28 -0.5700000000000001 1.5 Uncertain significance 0 -181829 Simple 730881270 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-10-17 -1.5 0.4 Uncertain significance 0 -181831 Simple 376213437 A . Pathogenic/Likely pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Familial adenomatous polyposis 2017-06-13 14.7 1.0 Pathogenic/Likely pathogenic 0 -181832 Simple 199842850 A . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-23 -1.47 1.0 Uncertain significance 0 -181835 Simple 730881273 - . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2016-11-15 16.2 2.0 Pathogenic 0 -181839 Simple 34393781 C . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -12.9 2.0 Benign/Likely benign 0 -181841 Simple 730881277 C . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -10.8 1.3333333333333333 Benign/Likely benign 0 -181843 Simple 730881278 C . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -13.2 1.75 Benign/Likely benign 0 -181844 Simple 730881279 C . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -12.9 2.0 Benign/Likely benign 0 -181846 Simple 527248759 A . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -13.2 1.75 Benign/Likely benign 0 -181847 Simple 34325032 TT . Benign/Likely benign 2 3 Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 2.6666666666666665 Benign/Likely benign 0 -181849 Simple 730881283 G . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -13.2 1.75 Benign/Likely benign 0 -181852 Simple 730881285 G . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -15.9 1.6 Benign/Likely benign 0 -181853 Simple 730881286 T . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -10.5 1.6666666666666667 Benign/Likely benign 0 -181857 Simple 1799757 - . Benign/Likely benign 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -24.6 1.6 Benign 1 -181858 Simple 3218681 AA . Benign/Likely benign 2 7 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -33.300000000000004 2.4285714285714284 Benign 1 -181862 Simple 730881291 T . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -10.8 1.3333333333333333 Benign/Likely benign 0 -181863 Simple 730881292 C . Benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -16.8 1.3333333333333333 Benign/Likely benign 1 -181864 Simple 730881293 GAGA . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided 2017-07-18 13.8 1.3333333333333333 Pathogenic/Likely pathogenic 0 -181865 Simple 730881294 - . Pathogenic 2 6 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-01 34.2 1.0 Pathogenic 0 -181866 Simple 1060499575 - . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-08 22.8 0.75 Pathogenic 0 -181867 Simple 730881296 - . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-01-27 15.600000000000001 2.3333333333333335 Pathogenic 0 -181868 Simple 730881297 - . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-06 16.8 1.6666666666666667 Pathogenic 0 -181871 Simple 730881300 - . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-08 19.8 1.0 Pathogenic 1 -181874 Simple 730881303 - . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 23.4 0.5 Pathogenic 0 -181880 Simple 730881309 TT . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-12 24.0 0.25 Pathogenic 0 -181881 Simple 730881310 - . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 15.0 0.0 Pathogenic 1 -181882 Simple 730881311 G . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.5 0.4 Uncertain significance 0 -181885 Simple 587779857 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-27 -0.8999999999999999 0.0 Uncertain significance 0 -181887 Simple 376159946 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -181888 Simple 730881315 T . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -1.47 1.0 Uncertain significance 0 -181889 Simple 730881316 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-19 -0.51 2.5 Uncertain significance 0 -181890 Simple 730881317 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-23 -1.17 1.0 Uncertain significance 0 -181892 Simple 730881319 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-08 -0.54 2.0 Uncertain significance 0 -181894 Simple 730881321 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-27 -1.2 0.5 Uncertain significance 0 -181895 Simple 730881322 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-09-29 -0.5700000000000001 1.5 Uncertain significance 0 -181896 Simple 730881323 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -0.6 0.5 Uncertain significance 0 -181897 Simple 730881324 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -1.2 0.5 Uncertain significance 0 -181898 Simple 730881325 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.2 0.25 Uncertain significance 0 -181899 Simple 730881326 C . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-05 6.0 1.0 Likely pathogenic 0 -181900 Simple 730881327 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-11 -0.8999999999999999 0.0 Uncertain significance 0 -181902 Simple 730881329 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -0.84 1.3333333333333333 Uncertain significance 0 -181903 Simple 730881330 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-07-07 -0.54 1.5 Uncertain significance 0 -181904 Simple 730881331 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-05-25 -0.54 1.5 Uncertain significance 0 -181905 Simple 144636562 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -181906 Simple 372795527 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.0 Uncertain significance 0 -181908 Simple 371767164 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-31 -0.87 1.3333333333333333 Uncertain significance 0 -181909 Simple 372694758 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -181910 Simple 730881333 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-09-07 12.0 0.0 Pathogenic/Likely pathogenic 1 -181911 Simple 730881334 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-17 -0.54 1.5 Uncertain significance 0 -181913 Simple 730881336 T . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-31 32.1 1.0 Pathogenic 1 -181916 Simple 730881339 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.2 0.5 Uncertain significance 0 -181917 Simple 199869975 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-29 -0.54 2.0 Uncertain significance 0 -181919 Simple 730881341 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -181920 Simple 730881342 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -181921 Simple 730881343 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-06 -1.17 0.75 Uncertain significance 0 -181922 Simple 200124136 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -1.2 0.5 Uncertain significance 0 -181924 Simple 55830714 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -1.2 0.25 Uncertain significance 0 -181925 Simple 730881345 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -181926 Simple 730881346 G . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-17 18.0 0.2 Pathogenic 1 -181927 Simple 730881347 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-15 10.8 2.0 Pathogenic/Likely pathogenic 1 -181929 Simple 730881348 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-08 -0.54 2.0 Uncertain significance 0 -181931 Simple 730881349 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -0.87 0.6666666666666666 Uncertain significance 0 -181932 Simple 141054982 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-10-04 -0.54 2.0 Uncertain significance 0 -181934 Simple 730881351 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -181936 Simple 730881353 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -181937 Simple 730881354 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-18 -0.87 0.6666666666666666 Uncertain significance 0 -181938 Simple 730881355 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-08-03 -0.5700000000000001 1.5 Uncertain significance 0 -181940 Simple 730881357 G . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 24.0 0.5 Pathogenic 0 -181941 Simple 730881358 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -1.2 0.5 Uncertain significance 0 -181944 Simple 730881361 C . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.5 0.2 Uncertain significance 0 -181945 Simple 368161489 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -181947 Simple 147557621 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-07-09 10.2 2.5 Pathogenic/Likely pathogenic 1 -181948 Simple 572564322 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.2 0.5 Uncertain significance 0 -181950 Simple 730881364 C . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-08 7.8 2.0 Likely pathogenic 1 -181951 Simple 730881365 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.87 1.0 Uncertain significance 0 -181952 Simple 183263185 G . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.44 1.0 Uncertain significance 0 -181953 Simple 730881366 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-20 -0.6 0.5 Uncertain significance 0 -181954 Simple 730881367 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-06-01 -0.6 0.5 Uncertain significance 0 -181956 Simple 730881369 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.2 0.75 Uncertain significance 0 -181957 Simple 587781545 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.25 Uncertain significance 0 -181958 Simple 730881370 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-09 -0.5700000000000001 1.0 Uncertain significance 0 -181959 Simple 201594549 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -1.14 1.0 Uncertain significance 0 -181960 Simple 550552791 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -1.2 0.5 Uncertain significance 0 -181961 Simple 35962982 T . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.2 0.0 Uncertain significance 0 -181962 Simple 375190373 A . Uncertain significance 2 5 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.5 0.4 Uncertain significance 0 -181963 Simple 730881371 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-07-17 -0.6 0.5 Uncertain significance 0 -181964 Simple 730881372 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-11-02 -0.6 0.5 Uncertain significance 0 -181965 Simple 730881373 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -181967 Simple 138710254 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-29 -0.54 2.0 Uncertain significance 0 -181971 Simple 730881377 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-06-19 -0.51 2.5 Uncertain significance 0 -181972 Simple 730881378 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-09 -0.54 2.0 Uncertain significance 0 -181973 Simple 199586999 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.2 0.5 Uncertain significance 0 -181974 Simple 139770721 A . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-12 25.8 1.2 Pathogenic 1 -181977 Simple 730881380 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.2 0.75 Uncertain significance 0 -181980 Simple 374551964 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.14 1.25 Uncertain significance 0 -181981 Simple 564652222 T . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-08 24.0 0.5 Pathogenic 0 -181982 Simple 730881383 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.25 Uncertain significance 0 -181983 Simple 374876799 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.2 0.5 Uncertain significance 0 -181985 Simple 730881385 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-23 8.7 1.5 Pathogenic/Likely pathogenic 0 -181986 Simple 587781946 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -1.14 0.75 Uncertain significance 0 -181987 Simple 730881386 C . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-28 12.0 1.0 Pathogenic/Likely pathogenic 1 -181988 Simple 730881387 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-02-17 -0.6 1.0 Uncertain significance 0 -181989 Simple 587780614 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -1.17 1.0 Uncertain significance 0 -181990 Simple 556598169 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -181992 Simple 730881388 T . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-15 18.0 0.3333333333333333 Pathogenic 0 -181998 Simple 730881393 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -181999 Simple 730881394 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182000 Simple 201963507 T . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-03 20.1 1.25 Pathogenic 1 -182002 Simple 368525111 T . Uncertain significance 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-06-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182003 Simple 730881395 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-11-10 -0.5700000000000001 1.5 Uncertain significance 0 -182004 Simple 730881396 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-10 -0.6 0.0 Uncertain significance 0 -182005 Simple 730881397 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-03-23 -0.54 1.5 Uncertain significance 0 -182006 Simple 730881398 G . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -182009 Simple 148419444 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-03-13 -0.6 0.5 Uncertain significance 0 -182010 Simple 730881400 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-05-23 -0.6 0.5 Uncertain significance 0 -182015 Simple 530658215 - . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-14 -7.2 2.5 Likely benign 1 -182018 Simple 151279728 - . Benign 2 2 Oligodontia-colorectal cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -10.2 2.0 Benign/Likely benign 1 -182020 Simple 147134295 T . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-19 -7.8 1.5 Likely benign 1 -182021 Simple 730881404 T . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-04-14 -7.8 1.5 Likely benign 1 -182022 Simple 730881405 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-25 -0.6 0.0 Uncertain significance 0 -182024 Simple 139934362 G . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -18.9 1.6 Benign/Likely benign 0 -182026 Simple 201862973 C . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -13.8 1.25 Benign/Likely benign 0 -182027 Simple 373257776 C . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -12.9 2.0 Benign/Likely benign 0 -182028 Simple 139721211 A . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -12.9 2.0 Benign/Likely benign 0 -182029 Simple 730881406 T . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -16.2 1.4 Benign/Likely benign 0 -182033 Simple 730881408 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -1.2 0.0 Uncertain significance 0 -182036 Simple 730881411 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-08 17.4 1.0 Pathogenic 0 -182037 Simple 730881412 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.25 Uncertain significance 0 -182039 Simple 730881414 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.87 1.0 Uncertain significance 0 -182040 Simple 373249008 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-12-24 -0.48 3.0 Uncertain significance 0 -182041 Simple 376259263 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.17 1.0 Uncertain significance 0 -182043 Simple 201261729 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182045 Simple 730881417 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182046 Simple 376727038 C . Uncertain significance 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -1.7999999999999998 0.16666666666666666 Uncertain significance 0 -182047 Simple 730881418 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -0.84 1.0 Uncertain significance 0 -182049 Simple 730881420 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182050 Simple 730881421 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182051 Simple 730881422 A . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 17.4 0.5 Pathogenic 1 -182052 Simple 730881423 G . Uncertain significance 2 2 Familial cancer of breast;not specified 2016-08-16 -0.54 2.0 Uncertain significance 0 -182054 Simple 730881424 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -0.54 1.5 Uncertain significance 0 -182055 Simple 34677017 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-02 -0.54 2.0 Uncertain significance 0 -182057 Simple 730881426 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182058 Simple 730881427 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -0.84 1.3333333333333333 Uncertain significance 0 -182061 Simple 56218710 T . Likely benign 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -8.1 1.6666666666666667 Likely benign 0 -182062 Simple 143248687 T . Uncertain significance 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-03 -1.47 0.6 Uncertain significance 0 -182064 Simple 730881430 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-09-17 -0.51 2.5 Uncertain significance 0 -182065 Simple 730881431 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-10-01 10.2 2.5 Pathogenic/Likely pathogenic 1 -182068 Simple 730881434 G . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2015-12-18 -0.54 2.0 Uncertain significance 0 -182069 Simple 730881435 A . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -1.2 0.25 Uncertain significance 0 -182070 Simple 730881436 A . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -182073 Simple 730881439 - . Pathogenic 3 2 Familial cancer of breast;Breast-ovarian cancer, familial 1 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -182074 Simple 730881440 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 30.0 1.0 Pathogenic 0 -182075 Simple 730881441 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 15.6 2.6666666666666665 Pathogenic 0 -182076 Simple 730881442 C . Uncertain significance 2 6 Familial cancer of breast;Breast-ovarian cancer, familial 1;Pancreatic cancer 4;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -1.77 0.5 Uncertain significance 0 -182077 Simple 730881443 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -0.5700000000000001 1.0 Uncertain significance 0 -182078 Simple 80356970 T . Uncertain significance 2 2 not specified 2017-05-02 -0.6 0.0 Uncertain significance 0 -182079 Simple 730881444 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.5 Uncertain significance 0 -182082 Simple 730881447 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-08-10 -0.54 2.0 Uncertain significance 0 -182084 Simple 146085503 A . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.5 1.4 Benign/Likely benign 1 -182085 Simple 730881448 G . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.1 0.8333333333333334 Benign/Likely benign 1 -182089 Simple 368415464 G . Benign/Likely benign 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -13.8 1.0 Benign/Likely benign 0 -182091 Simple 1800064 T . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.74 1.6666666666666667 Benign/Likely benign 1 -182092 Simple 730881451 C . Likely benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -22.2 1.2857142857142858 Benign/Likely benign 1 -182093 Simple 730881452 A . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.1 0.75 Benign/Likely benign 1 -182094 Simple 730881453 T . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -21.9 1.6 Benign/Likely benign 1 -182095 Simple 730881454 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -11.1 1.3333333333333333 Benign/Likely benign 1 -182096 Simple 730881455 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.5 1.5 Benign/Likely benign 1 -182097 Simple 138493864 A . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.5 1.4 Benign/Likely benign 1 -182098 Simple 730881456 A . Likely benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -22.5 1.1428571428571428 Benign/Likely benign 1 -182100 Simple 730881457 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;not provided 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -182103 Simple 730881458 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -182105 Simple 730881459 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided 2016-09-08 23.4 1.25 Pathogenic 0 -182109 Simple 730881461 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;not provided 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -182111 Simple 730881462 - . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 1 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -182121 Simple 202168814 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -0.87 1.0 Uncertain significance 0 -182122 Simple 397508904 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -0.87 0.6666666666666666 Uncertain significance 0 -182125 Simple 730881466 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-06 -0.54 2.0 Uncertain significance 0 -182127 Simple 397509319 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -1.08 1.75 Uncertain significance 0 -182128 Simple 730881468 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1;not provided 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -182129 Simple 561998108 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.5 Uncertain significance 0 -182130 Simple 730881469 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -182135 Simple 730881473 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -182138 Simple 730881474 G . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2016-10-19 -1.77 1.1666666666666667 Uncertain significance 0 -182140 Simple 730881476 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-26 -0.5700000000000001 1.5 Uncertain significance 0 -182143 Simple 730881479 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-26 -0.84 1.6666666666666667 Uncertain significance 0 -182145 Simple 730881481 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -1.17 1.25 Uncertain significance 0 -182149 Simple 730881485 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182151 Simple 730881487 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-27 -0.5700000000000001 1.5 Uncertain significance 0 -182152 Simple 273899698 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-29 -0.54 2.0 Uncertain significance 0 -182154 Simple 730881488 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -182159 Simple 730881491 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-11-08 -0.78 2.0 Uncertain significance 0 -182160 Simple 80357011 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-12-09 -0.6 1.0 Uncertain significance 0 -182161 Simple 80357067 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-25 -0.84 1.6666666666666667 Uncertain significance 0 -182164 Simple 730881494 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-28 -0.51 2.5 Uncertain significance 0 -182165 Simple 730881495 T . Pathogenic 3 6 Breast-ovarian cancer, familial 1;not specified;not provided 2016-04-03 32.4 1.1666666666666667 Pathogenic 0 -182166 Simple 730881496 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-06-21 -0.78 2.3333333333333335 Uncertain significance 0 -182171 Simple 730881500 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182172 Simple 273902776 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-01-20 -0.51 2.5 Uncertain significance 0 -182174 Simple 730881502 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-04 -0.54 2.0 Uncertain significance 0 -182175 Simple 730881503 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-09-20 -0.54 2.0 Uncertain significance 0 -182179 Simple 149565664 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-05-15 -0.6 0.5 Uncertain significance 0 -182180 Simple 730881506 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-01 -0.51 2.5 Uncertain significance 0 -182182 Simple 730881508 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -1.05 1.75 Uncertain significance 0 -182185 Simple 730881511 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -0.87 0.6666666666666666 Uncertain significance 0 -182186 Simple 55821741 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -1.14 1.25 Uncertain significance 0 -182188 Simple 730881513 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-01-04 -0.54 2.0 Uncertain significance 0 -182190 Simple 730881515 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -1.1099999999999999 1.25 Uncertain significance 0 -182191 Simple 730881516 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182192 Simple 730881517 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.0 Uncertain significance 0 -182193 Simple 730881518 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-10 -0.8999999999999999 1.0 Uncertain significance 0 -182195 Simple 730881520 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.54 1.5 Uncertain significance 0 -182196 Simple 730881521 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 28.8 1.4 Pathogenic 0 -182198 Simple 372433502 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182199 Simple 730881522 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-04-27 -0.75 2.6666666666666665 Uncertain significance 0 -182200 Simple 730881523 G . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -1.47 0.6 Uncertain significance 0 -182203 Simple 730881526 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182204 Simple 730881527 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified 2016-05-23 -0.54 2.0 Uncertain significance 0 -182205 Simple 730881528 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -0.81 1.6666666666666667 Uncertain significance 0 -182207 Simple 730881530 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-01 -0.54 2.0 Uncertain significance 0 -182210 Simple 730881532 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.87 1.0 Uncertain significance 0 -182212 Simple 730881534 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -0.6 1.0 Uncertain significance 0 -182214 Simple 730881536 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.0 Uncertain significance 0 -182217 Simple 139302211 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -1.2 0.5 Uncertain significance 0 -182218 Simple 34351119 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-13 -0.51 2.5 Uncertain significance 0 -182219 Simple 730881538 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-05-11 -0.5700000000000001 1.5 Uncertain significance 0 -182220 Simple 730881539 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2014-12-18 -0.44999999999999996 3.5 Uncertain significance 0 -182224 Simple 730881542 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-03 -0.5700000000000001 1.5 Uncertain significance 0 -182227 Simple 397507374 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -1.47 0.6 Uncertain significance 0 -182229 Simple 730881546 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-04 -0.51 2.5 Uncertain significance 0 -182230 Simple 730881547 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-06 -0.54 2.0 Uncertain significance 0 -182231 Simple 730881548 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -182232 Simple 369452046 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.5 Uncertain significance 0 -182234 Simple 730881550 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -0.81 1.6666666666666667 Uncertain significance 0 -182235 Simple 730881551 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182237 Simple 730881553 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-16 -0.81 1.6666666666666667 Uncertain significance 0 -182238 Simple 730881554 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-01 -0.5700000000000001 1.5 Uncertain significance 0 -182240 Simple 730881556 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-06 -0.54 1.5 Uncertain significance 0 -182241 Simple 730881557 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-24 -0.51 2.5 Uncertain significance 0 -182242 Simple 730881558 C . Uncertain significance 2 1 not specified 2017-02-08 . 1.0 . 0 -182244 Simple 730881559 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-26 -0.54 2.0 Uncertain significance 0 -182247 Simple 80359800 G . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.5 0.6 Uncertain significance 0 -182250 Simple 730881563 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-14 -0.48 3.0 Uncertain significance 0 -182252 Simple 730881565 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-03-07 -0.48 3.0 Uncertain significance 0 -182254 Simple 730881567 A . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -0.99 2.5 Uncertain significance 0 -182256 Simple 373227180 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-16 -0.54 2.0 Uncertain significance 0 -182257 Simple 397508025 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -182259 Simple 80359172 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -0.84 1.0 Uncertain significance 0 -182261 Simple 730881570 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2015-07-16 -0.51 2.5 Uncertain significance 0 -182264 Simple 730881572 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-25 -0.54 2.0 Uncertain significance 0 -182265 Simple 730881573 C . Pathogenic 2 2 Breast-ovarian cancer, familial 2;not provided 2015-08-25 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -182266 Simple 730881574 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -1.14 1.0 Uncertain significance 0 -182267 Simple 730881575 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -0.78 2.0 Uncertain significance 0 -182270 Simple 730881578 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-12 -0.84 1.3333333333333333 Uncertain significance 0 -182273 Simple 730881581 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 24.0 1.25 Pathogenic 0 -182274 Simple 730881582 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-02-26 -0.51 2.5 Uncertain significance 0 -182275 Simple 730881583 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -0.84 1.3333333333333333 Uncertain significance 0 -182276 Simple 730881584 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-02 -0.48 3.0 Uncertain significance 0 -182277 Simple 28897703 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.8 1.5 Benign/Likely benign 1 -182278 Simple 28897704 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.2 1.8 Benign/Likely benign 1 -182279 Simple 730881585 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.5 1.5 Benign/Likely benign 1 -182280 Simple 730881586 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.1 1.3333333333333333 Benign/Likely benign 1 -182281 Simple 730881587 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.1 1.2 Benign/Likely benign 1 -182283 Simple 28897714 G . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.5 1.3333333333333333 Benign/Likely benign 1 -182284 Simple 112566179 G . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -28.2 1.3333333333333333 Benign 0 -182285 Simple 730881589 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.5 1.4 Benign/Likely benign 1 -182286 Simple 730881590 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.5 2.1666666666666665 Benign/Likely benign 1 -182287 Simple 206075 C . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.8 1.1666666666666667 Benign/Likely benign 1 -182288 Simple 45484897 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -24.9 1.3333333333333333 Benign 2 -182289 Simple 730881591 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.5 1.5 Benign/Likely benign 1 -182290 Simple 206076 T . Likely benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -22.38 1.875 Benign/Likely benign 1 -182291 Simple 28897741 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.2 1.6 Benign/Likely benign 1 -182292 Simple 730881592 G . Benign/Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -10.8 1.3333333333333333 Benign/Likely benign 0 -182293 Simple 181183366 G . Likely benign 3 9 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -28.5 1.2222222222222223 Benign 2 -182294 Simple 730881593 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.8 1.25 Benign/Likely benign 1 -182295 Simple 140693106 T . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.11 2.142857142857143 Benign/Likely benign 1 -182297 Simple 730881594 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.5 1.75 Benign/Likely benign 1 -182298 Simple 730881595 G . Benign/Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -10.8 1.6666666666666667 Benign/Likely benign 0 -182299 Simple 371278843 A . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -30.9 1.5714285714285714 Benign 0 -182301 Simple 730881597 G . Benign/Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-07-18 -7.8 1.5 Likely benign 1 -182303 Simple 730881598 G . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.5 1.5 Benign/Likely benign 1 -182304 Simple 369047997 A . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -21.0 0.5714285714285714 Benign/Likely benign 1 -182307 Simple 730881601 GATAGATA . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 2;not provided 2016-09-08 16.2 2.3333333333333335 Pathogenic 0 -182308 Simple 886037742 ACCG . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -182309 Simple 730881602 AA . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 31.8 1.3333333333333333 Pathogenic 0 -182311 Simple 730881604 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -182312 Simple 730881605 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-08-13 -0.54 2.0 Uncertain significance 0 -182313 Simple 730881606 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.0 Pathogenic 0 -182314 Simple 730881607 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 16.8 2.0 Pathogenic 0 -182315 Simple 730881608 - . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 16.8 2.0 Pathogenic 0 -182316 Simple 730881609 - . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-04-21 -0.6 0.5 Uncertain significance 0 -182317 Simple 730881610 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -182318 Simple 730881611 GCATGCAT . Pathogenic 3 2 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 10.8 2.5 Pathogenic/Likely pathogenic 1 -182320 Simple 730881613 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -182321 Simple 730881614 - . Pathogenic 3 3 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 13.8 2.0 Pathogenic/Likely pathogenic 1 -182322 Simple 730881615 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided 2016-10-18 23.4 1.5 Pathogenic 0 -182323 Simple 730881616 AAGAAG . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -1.41 1.4 Uncertain significance 0 -182325 Simple 730881618 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 16.8 2.0 Pathogenic 0 -182326 Simple 730881619 ATTTATTT . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.5 Pathogenic 0 -182327 Simple 730881620 - . Pathogenic 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -182330 Simple 730881622 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -0.8999999999999999 0.0 Uncertain significance 0 -182331 Simple 730881623 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.0 Uncertain significance 0 -182336 Simple 730881627 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -0.8999999999999999 0.0 Uncertain significance 0 -182337 Simple 367610893 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -0.8999999999999999 0.0 Uncertain significance 0 -182341 Simple 730881630 G . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.7999999999999998 0.5 Uncertain significance 0 -182343 Simple 535414791 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.17 0.5 Uncertain significance 0 -182344 Simple 730881632 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.84 1.3333333333333333 Uncertain significance 0 -182345 Simple 730881633 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-06-26 12.0 0.0 Pathogenic/Likely pathogenic 1 -182348 Simple 730881636 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-04-12 -0.84 1.3333333333333333 Uncertain significance 0 -182349 Simple 201790351 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2016-11-14 -1.17 1.25 Uncertain significance 0 -182350 Simple 730881637 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182352 Simple 45533636 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182353 Simple 374362388 A . Benign/Likely benign 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -18.9 1.6666666666666667 Benign/Likely benign 0 -182355 Simple 545021924 AA . Benign/Likely benign 2 4 Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2016-06-27 -12.9 2.0 Benign/Likely benign 0 -182356 Simple 61754142 A . Benign/Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -13.5 1.5 Benign/Likely benign 0 -182358 Simple 141436143 C . Benign/Likely benign 2 7 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -28.2 1.2857142857142858 Benign 1 -182359 Simple 144940449 A . Benign/Likely benign 2 7 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -22.2 1.2857142857142858 Benign/Likely benign 0 -182360 Simple 148429663 T . Benign/Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -13.8 1.25 Benign/Likely benign 0 -182361 Simple 730881640 A . Benign/Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-02-26 -13.5 1.75 Benign/Likely benign 0 -182364 Simple 730881642 G . Benign/Likely benign 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2016-12-13 -16.8 1.4 Benign/Likely benign 0 -182368 Simple 730881646 - . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.87 0.6666666666666666 Uncertain significance 0 -182369 Simple 730881647 CACACACA . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 18.0 0.3333333333333333 Pathogenic 0 -182370 Simple 730881648 - . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -1.7999999999999998 0.5 Uncertain significance 0 -182371 Simple 45617634 C . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -1.7999999999999998 0.5 Uncertain significance 0 -182372 Simple 730881649 - . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-17 23.4 0.75 Pathogenic 0 -182375 Simple 730881652 C . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -1.2 0.5 Uncertain significance 0 -182378 Simple 730881655 - . Benign/Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-08-01 -9.9 2.3333333333333335 Benign/Likely benign 0 -182380 Simple 61747632 A . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -18.9 1.8 Benign/Likely benign 0 -182381 Simple 61747635 A . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -13.2 1.5 Benign/Likely benign 0 -182382 Simple 730881656 T . Benign/Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-03-27 -10.2 2.0 Benign/Likely benign 0 -182385 Simple 552874184 A . Benign/Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -10.5 2.0 Benign/Likely benign 0 -182386 Simple 140328601 T . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -18.6 2.0 Benign/Likely benign 0 -182389 Simple 730881660 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;not specified 2016-12-26 -0.5700000000000001 1.5 Uncertain significance 0 -182390 Simple 730881661 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182391 Simple 730881662 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-08-14 -0.51 2.5 Uncertain significance 0 -182392 Simple 201511530 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -0.87 1.0 Uncertain significance 0 -182394 Simple 730881664 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182395 Simple 143727462 C . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -1.5 0.4 Uncertain significance 0 -182397 Simple 730881665 G . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182398 Simple 730881666 C . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.14 1.0 Uncertain significance 0 -182399 Simple 730881667 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.2 0.5 Uncertain significance 0 -182402 Simple 115408226 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-11-10 -0.8999999999999999 0.0 Uncertain significance 0 -182403 Simple 730881669 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -1.14 1.25 Uncertain significance 0 -182404 Simple 730881670 T . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-23 -0.87 1.0 Uncertain significance 0 -182405 Simple 200215596 T . Uncertain significance 2 4 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-13 -1.2 0.25 Uncertain significance 0 -182409 Simple 730881673 TT . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2014-09-10 9.6 3.0 Pathogenic/Likely pathogenic 1 -182411 Simple 730881674 . . Pathogenic 2 4 not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-05-01 24.0 0.75 Pathogenic 0 -182412 Simple 730881675 - . Pathogenic 2 4 Melanoma-pancreatic cancer syndrome;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-28 22.2 1.0 Pathogenic 0 -182414 Simple 1800586 A . Pathogenic 2 4 Melanoma-pancreatic cancer syndrome;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-09 24.0 0.25 Pathogenic 0 -182416 Simple 730881677 G . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-12-24 12.0 1.0 Pathogenic/Likely pathogenic 1 -182419 Simple 373291490 A . Uncertain significance 2 4 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.0 Uncertain significance 0 -182420 Simple 730881680 G . Uncertain significance 2 2 not specified;Hereditary cutaneous melanoma 2017-10-19 -0.54 1.5 Uncertain significance 0 -182422 Simple 138677674 A . Uncertain significance 2 2 not specified 2017-03-23 -0.54 1.5 Uncertain significance 0 -182424 Simple 730881681 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-08-05 -0.87 1.3333333333333333 Uncertain significance 0 -182426 Simple 730881683 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -1.17 1.0 Uncertain significance 0 -182427 Simple 730881684 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-07-31 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -182429 Simple 730881686 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -0.6 0.5 Uncertain significance 0 -182430 Simple 730881687 T . Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-24 12.0 0.0 Pathogenic/Likely pathogenic 1 -182431 Simple 730881688 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -1.5 0.2 Uncertain significance 0 -182433 Simple 730881689 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182434 Simple 267606211 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-08-10 -0.54 1.5 Uncertain significance 0 -182435 Simple 730881690 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-30 -0.5700000000000001 1.5 Uncertain significance 0 -182436 Simple 549755590 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182439 Simple 548850521 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.84 1.3333333333333333 Uncertain significance 0 -182441 Simple 587781960 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.2 0.25 Uncertain significance 0 -182442 Simple 576248104 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182444 Simple 730881694 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -0.84 1.3333333333333333 Uncertain significance 0 -182445 Simple 730881695 A . Uncertain significance 2 4 Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.17 0.75 Uncertain significance 0 -182446 Simple 730881696 T . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-03-19 -0.5700000000000001 1.0 Uncertain significance 0 -182447 Simple 730881697 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182449 Simple 730881699 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-03-27 18.0 0.6666666666666666 Pathogenic 0 -182450 Simple 730881700 TT . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-31 26.4 0.6 Pathogenic 1 -182452 Simple 730881701 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-15 18.0 0.0 Pathogenic 0 -182453 Simple 730881702 T . Pathogenic 2 2 Familial cancer of breast;not provided 2017-07-24 10.8 1.5 Pathogenic/Likely pathogenic 1 -182456 Simple 730881704 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.17 1.0 Uncertain significance 0 -182457 Simple 730881705 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -1.2 0.75 Uncertain significance 0 -182459 Simple 730881706 C . Benign/Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -13.8 1.0 Benign/Likely benign 0 -182464 Simple 368088450 G . Benign 2 2 not specified 2017-01-17 -10.2 2.5 Benign/Likely benign 1 -182465 Simple 730881708 - . Pathogenic/Likely pathogenic 2 3 Fanconi anemia;Fanconi anemia, complementation group C;not provided 2017-03-16 14.4 1.0 Pathogenic/Likely pathogenic 0 -182466 Simple 3831244 - . Uncertain significance 2 2 Fanconi anemia;not specified 2017-03-23 -0.6 0.5 Uncertain significance 0 -182467 Simple 730881709 AA . Pathogenic 2 2 Fanconi anemia;not provided 2016-12-28 10.8 2.0 Pathogenic/Likely pathogenic 1 -182469 Simple 730881711 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-10-05 -0.5700000000000001 1.0 Uncertain significance 0 -182472 Simple 370346767 T . Uncertain significance 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -0.8999999999999999 0.0 Uncertain significance 0 -182476 Simple 730881716 C . Uncertain significance 2 4 Fanconi anemia;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.5 Uncertain significance 0 -182477 Simple 730881717 C . Uncertain significance 2 2 Fanconi anemia;not specified 2017-10-09 -0.5700000000000001 1.0 Uncertain significance 0 -182478 Simple 200854639 C . Uncertain significance 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182479 Simple 730881718 T . Uncertain significance 2 2 Fanconi anemia;not specified 2017-10-16 -0.6 0.5 Uncertain significance 0 -182485 Simple 140687953 T . Uncertain significance 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182488 Simple 730881725 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-08-01 -0.5700000000000001 1.0 Uncertain significance 0 -182490 Simple 730881727 C . Uncertain significance 2 2 Fanconi anemia;not specified 2017-05-12 -0.5700000000000001 1.0 Uncertain significance 0 -182494 Simple 375921240 C . Uncertain significance 2 2 Fanconi anemia;not specified 2017-02-08 -0.6 1.0 Uncertain significance 0 -182497 Simple 730881731 A . Pathogenic 2 2 Fanconi anemia;not provided 2016-07-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -182500 Simple 150070473 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-11-18 -7.8 2.0 Likely benign 1 -182501 Simple 144278080 T . Benign/Likely benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -10.8 1.3333333333333333 Benign/Likely benign 0 -182504 Simple 138675188 T . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-10 -7.2 2.0 Likely benign 1 -182506 Simple 77179853 - . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-23 -0.51 2.5 Uncertain significance 0 -182515 Simple 730881736 A . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182516 Simple 63751595 T . Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-13 8.4 1.3333333333333333 Pathogenic/Likely pathogenic 1 -182519 Simple 56250509 C . Uncertain significance 2 5 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-05 -1.47 0.8 Uncertain significance 0 -182522 Simple 730881739 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-24 -1.2 0.5 Uncertain significance 0 -182524 Simple 373767220 A . Uncertain significance 2 4 Turcot syndrome;Muir-Torré syndrome;Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-15 -1.17 0.5 Uncertain significance 0 -182525 Simple 730881741 T . Uncertain significance 2 2 Lynch syndrome;not specified 2015-03-27 -0.51 2.5 Uncertain significance 0 -182526 Simple 730881742 G . Uncertain significance 2 4 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -1.14 1.0 Uncertain significance 0 -182527 Simple 730881743 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-04 -0.51 2.5 Uncertain significance 0 -182529 Simple 41542214 T . Pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-03-10 10.8 1.5 Pathogenic/Likely pathogenic 1 -182533 Simple 587779029 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -1.14 1.0 Uncertain significance 0 -182536 Simple 146796765 C . Benign/Likely benign 2 6 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -18.0 2.1666666666666665 Benign/Likely benign 0 -182537 Simple 377598055 G . Benign/Likely benign 2 3 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome 2016-08-31 -10.5 2.0 Benign/Likely benign 0 -182538 Simple 535965616 TA . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -7.8 1.5 Likely benign 1 -182548 Simple 13447632 C . Benign/Likely benign 2 4 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -18.0 2.25 Benign/Likely benign 0 -182550 Simple 140145979 G . Benign/Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;not specified 2016-07-13 -7.2 2.5 Likely benign 1 -182551 Simple 13447633 C . Benign/Likely benign 2 4 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -15.6 2.0 Benign/Likely benign 0 -182552 Simple 1805364 A . Benign/Likely benign 2 3 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -9.6 2.3333333333333335 Benign/Likely benign 0 -182555 Simple 730881753 G . Uncertain significance 2 2 Lynch syndrome;not specified 2016-09-14 -0.5700000000000001 1.5 Uncertain significance 0 -182557 Simple 730881755 C . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-10-04 -0.78 2.3333333333333335 Uncertain significance 0 -182558 Simple 730881756 C . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-03 -1.1400000000000001 1.5 Uncertain significance 0 -182560 Simple 730881757 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -0.6 1.0 Uncertain significance 0 -182561 Simple 56170584 T . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-23 -0.6 0.5 Uncertain significance 0 -182563 Simple 587782355 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182564 Simple 63751207 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-17 -1.2 0.0 Uncertain significance 0 -182566 Simple 730881760 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-13 -0.54 1.5 Uncertain significance 0 -182567 Simple 730881761 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.84 1.3333333333333333 Uncertain significance 0 -182568 Simple 730881762 G . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-20 -0.6 0.5 Uncertain significance 0 -182569 Simple 730881763 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -0.87 0.6666666666666666 Uncertain significance 0 -182570 Simple 730881764 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-09 -0.54 2.0 Uncertain significance 0 -182572 Simple 63751125 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-02 -0.54 2.0 Uncertain significance 0 -182574 Simple 730881766 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-12 -1.2 0.5 Uncertain significance 0 -182575 Simple 730881767 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-11 -0.81 1.6666666666666667 Uncertain significance 0 -182576 Simple 730881768 G . Uncertain significance 2 5 Lynch syndrome I;Turcot syndrome;Muir-Torré syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-17 -1.47 0.6 Uncertain significance 0 -182577 Simple 587779972 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-28 -0.6 1.0 Uncertain significance 0 -182578 Simple 144412585 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182579 Simple 730881769 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-17 -0.84 1.3333333333333333 Uncertain significance 0 -182582 Simple 730881771 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-18 -1.2 0.0 Uncertain significance 0 -182583 Simple 141021599 G . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-18 -1.5 0.4 Uncertain significance 0 -182585 Simple 140754514 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-01 -1.2 0.25 Uncertain significance 0 -182587 Simple 730881772 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-20 -0.84 1.3333333333333333 Uncertain significance 0 -182588 Simple 730881773 T . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -1.2 0.75 Uncertain significance 0 -182589 Simple 199676483 G . Uncertain significance 2 6 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-02 -1.7999999999999998 0.6666666666666666 Uncertain significance 0 -182590 Simple 377403073 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-13 -0.8999999999999999 0.0 Uncertain significance 0 -182592 Simple 730881775 AA . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-07-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -182594 Simple 63750611 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -1.2 0.5 Uncertain significance 0 -182596 Simple 730881777 A . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-05 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -182598 Simple 730881778 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-24 -0.81 2.0 Uncertain significance 0 -182601 Simple 561057917 - . Benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -22.2 1.5 Benign/Likely benign 1 -182603 Simple 730881781 T . Benign/Likely benign 2 3 Lynch syndrome I;not specified;Hereditary nonpolyposis colon cancer 2017-06-09 -10.8 1.3333333333333333 Benign/Likely benign 0 -182607 Simple 730881783 T . Benign/Likely benign 2 3 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome 2016-10-25 -10.2 2.0 Benign/Likely benign 0 -182608 Simple 730881784 T . Benign/Likely benign 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -15.9 1.8 Benign/Likely benign 0 -182610 Simple 587779317 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-26 -0.87 0.6666666666666666 Uncertain significance 0 -182611 Simple 370157832 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-19 -1.2 0.5 Uncertain significance 0 -182612 Simple 374486449 C . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-13 -1.2 0.25 Uncertain significance 0 -182618 Simple 730881788 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-05 -0.87 0.6666666666666666 Uncertain significance 0 -182619 Simple 730881789 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-06 -0.54 2.0 Uncertain significance 0 -182620 Simple 63750065 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-25 -1.2 0.25 Uncertain significance 0 -182621 Simple 730881790 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -0.87 1.0 Uncertain significance 0 -182622 Simple 201996928 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182623 Simple 730881791 A . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-11 -1.5 0.2 Uncertain significance 0 -182625 Simple 730881792 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-30 -0.6 0.5 Uncertain significance 0 -182626 Simple 201613780 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182627 Simple 201735525 C . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-14 -1.17 1.25 Uncertain significance 0 -182630 Simple 151086192 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -0.87 0.6666666666666666 Uncertain significance 0 -182635 Simple 587779235 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -182636 Simple 730881797 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-31 -0.87 0.6666666666666666 Uncertain significance 0 -182637 Simple 730881798 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-01 -1.2 0.25 Uncertain significance 0 -182638 Simple 730881799 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.87 1.0 Uncertain significance 0 -182639 Simple 730881800 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-15 -0.84 1.3333333333333333 Uncertain significance 0 -182640 Simple 372705506 A . Uncertain significance 2 6 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-04 -1.71 1.5 Uncertain significance 0 -182641 Simple 730881801 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -1.2 0.25 Uncertain significance 0 -182642 Simple 587781673 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182644 Simple 730881803 C . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -0.81 2.0 Uncertain significance 0 -182645 Simple 730881804 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-16 -1.2 0.0 Uncertain significance 0 -182647 Simple 730881806 A . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -1.14 1.25 Uncertain significance 0 -182648 Simple 730881807 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182649 Simple 730881808 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-08-04 -0.6 0.5 Uncertain significance 0 -182650 Simple 730881809 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-26 -1.17 1.0 Uncertain significance 0 -182651 Simple 192740549 C . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -1.08 1.75 Uncertain significance 0 -182652 Simple 730881810 A . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -0.8999999999999999 1.0 Uncertain significance 0 -182654 Simple 730881811 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-22 -0.6 1.0 Uncertain significance 0 -182655 Simple 730881812 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.54 1.5 Uncertain significance 0 -182657 Simple 730881814 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-11 -0.75 2.6666666666666665 Uncertain significance 0 -182658 Simple 730881815 G . Uncertain significance 2 2 Lynch syndrome;not specified 2016-12-21 -0.54 2.0 Uncertain significance 0 -182659 Simple 730881816 G . Pathogenic 2 4 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-12-02 22.2 1.75 Pathogenic 0 -182661 Simple 372990379 G . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -0.87 1.0 Uncertain significance 0 -182662 Simple 143036974 A . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-27 -1.17 0.75 Uncertain significance 0 -182663 Simple 141242295 T . Benign/Likely benign 2 6 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -21.9 1.6666666666666667 Benign/Likely benign 0 -182664 Simple 375610656 A . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-02 -13.5 1.5 Benign/Likely benign 0 -182665 Simple 139026662 T . Benign/Likely benign 2 6 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -18.6 1.8333333333333333 Benign/Likely benign 0 -182666 Simple 730881818 G . Benign/Likely benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-30 -16.2 1.6 Benign/Likely benign 0 -182667 Simple 35621414 T . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -15.9 2.0 Benign/Likely benign 0 -182671 Simple 373425206 G . Benign/Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -18.9 1.8 Benign/Likely benign 0 -182672 Simple 587779302 ACTAACTA . Benign/Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-07 -14.4 2.8 Benign/Likely benign 0 -182676 Simple 730881823 C . Benign/Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-21 -15.9 1.6 Benign/Likely benign 0 -182678 Simple 730881825 - . Pathogenic 2 4 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-03 22.8 1.5 Pathogenic 0 -182680 Simple 730881827 - . Pathogenic 2 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-24 22.8 1.25 Pathogenic 0 -182682 Simple 730881829 - . Pathogenic 2 2 Lynch syndrome;not provided 2015-10-29 10.2 2.5 Pathogenic/Likely pathogenic 1 -182683 Simple 730881830 TCTC . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-01 12.0 0.0 Pathogenic/Likely pathogenic 1 -182684 Simple 864621967 - . Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-10-12 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -182685 Simple 147923905 A . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.2 0.25 Uncertain significance 0 -182686 Simple 730881831 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-26 -0.51 2.5 Uncertain significance 0 -182687 Simple 540793556 T . Uncertain significance 2 2 MYH-associated polyposis;not specified 2016-08-08 -0.6 1.0 Uncertain significance 0 -182688 Simple 730881832 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-03-24 10.8 2.0 Pathogenic/Likely pathogenic 1 -182689 Simple 143353451 T . Pathogenic 2 5 MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-01-12 30.0 1.0 Pathogenic 0 -182692 Simple 199840380 A . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -1.2 0.25 Uncertain significance 0 -182693 Simple 730881834 C . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2016-12-23 -0.84 1.6666666666666667 Uncertain significance 0 -182694 Simple 149342980 T . Uncertain significance 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-10-11 -1.7999999999999998 0.5 Uncertain significance 0 -182697 Simple 730881836 A . Benign/Likely benign 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-03 -15.9 1.8 Benign/Likely benign 0 -182698 Simple 730881837 T . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -10.5 1.6666666666666667 Benign/Likely benign 0 -182701 Simple 150269172 A . Benign/Likely benign 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -30.6 1.6666666666666667 Benign 1 -182702 Simple 730881839 TT . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-15 11.4 1.5 Pathogenic/Likely pathogenic 1 -182704 Simple 730881841 - . Uncertain significance 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.5 0.6 Uncertain significance 0 -182709 Simple 730881842 G . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-27 -9.0 0.3333333333333333 Benign/Likely benign 1 -182713 Simple 730881844 C . Uncertain significance 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -1.5 0.6 Uncertain significance 0 -182714 Simple 730881845 C . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -1.2 0.25 Uncertain significance 0 -182716 Simple 201559159 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182718 Simple 730881848 T . Uncertain significance 2 2 not specified 2016-09-27 -0.54 2.0 Uncertain significance 0 -182719 Simple 730881849 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-12 -0.6 1.0 Uncertain significance 0 -182720 Simple 146403088 A . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.14 1.0 Uncertain significance 0 -182721 Simple 730881850 T . Pathogenic/Likely pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency;not provided 2016-12-26 7.8 2.0 Likely pathogenic 1 -182722 Simple 730881851 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-28 -0.84 1.0 Uncertain significance 0 -182723 Simple 730881852 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-06-26 -0.6 0.5 Uncertain significance 0 -182725 Simple 730881854 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-04-28 -0.84 1.3333333333333333 Uncertain significance 0 -182728 Simple 730881857 C . Pathogenic/Likely pathogenic 2 5 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-06-29 26.1 0.8 Pathogenic 1 -182729 Simple 730881858 G . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.0 Uncertain significance 0 -182730 Simple 370058152 C . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -1.2 0.0 Uncertain significance 0 -182731 Simple 730881859 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182734 Simple 535602436 A . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.0 Uncertain significance 0 -182735 Simple 730881862 A . Uncertain significance 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.5 0.4 Uncertain significance 0 -182737 Simple 730881864 A . Pathogenic/Likely pathogenic 2 5 Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia;Acute lymphoid leukemia;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 25.8 0.8 Pathogenic 1 -182738 Simple 730881865 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-06 14.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -182739 Simple 730881866 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-14 16.8 1.3333333333333333 Pathogenic 0 -182741 Simple 730881868 CAACCAAC . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-13 24.0 0.0 Pathogenic 0 -182742 Simple 730881869 - . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-18 21.0 0.5 Pathogenic 1 -182743 Simple 730881870 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2016-10-11 17.4 1.3333333333333333 Pathogenic 0 -182744 Simple 730881871 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-01-18 17.4 1.3333333333333333 Pathogenic 0 -182745 Simple 730881872 - . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-14 22.8 1.25 Pathogenic 0 -182747 Simple 45542234 T . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -13.5 1.5 Benign/Likely benign 0 -182750 Simple 367979106 A . Benign/Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -10.8 1.0 Benign/Likely benign 0 -182752 Simple 564514783 A . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -16.2 1.4 Benign/Likely benign 0 -182755 Simple 730881877 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182756 Simple 730881878 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-21 -1.2 0.0 Uncertain significance 0 -182757 Simple 730881879 C . Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-28 14.7 0.4 Pathogenic/Likely pathogenic 1 -182758 Simple 730881880 A . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -182759 Simple 730881881 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-08-25 -0.81 2.0 Uncertain significance 0 -182760 Simple 730881882 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -0.84 1.3333333333333333 Uncertain significance 0 -182761 Simple 730881883 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-15 -0.54 2.0 Uncertain significance 0 -182762 Simple 730881884 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-12 10.8 2.0 Pathogenic/Likely pathogenic 1 -182763 Simple 730881885 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -1.14 1.0 Uncertain significance 0 -182764 Simple 730881886 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.47 0.6 Uncertain significance 0 -182765 Simple 730881887 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-12-01 -1.17 0.75 Uncertain significance 0 -182768 Simple 730881889 A . Uncertain significance 2 2 Familial cancer of breast;not specified 2016-08-24 -0.5700000000000001 1.5 Uncertain significance 0 -182769 Simple 730881890 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182770 Simple 730881891 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.84 1.3333333333333333 Uncertain significance 0 -182772 Simple 730881892 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -1.2 0.75 Uncertain significance 0 -182773 Simple 730881893 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-06-23 -0.54 1.5 Uncertain significance 0 -182774 Simple 45616636 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.2 0.75 Uncertain significance 0 -182775 Simple 730881894 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -0.81 2.0 Uncertain significance 0 -182777 Simple 730881896 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -1.17 0.75 Uncertain significance 0 -182778 Simple 730881897 C . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-12-04 5.7 1.0 Likely pathogenic 0 -182779 Simple 730881898 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182780 Simple 730881899 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -1.14 1.25 Uncertain significance 0 -182783 Simple 730881902 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-08-04 -0.54 1.5 Uncertain significance 0 -182785 Simple 730881904 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -1.14 0.75 Uncertain significance 0 -182786 Simple 730881905 A . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-03-21 21.0 0.75 Pathogenic 1 -182787 Simple 148102335 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-03-13 -0.6 0.0 Uncertain significance 0 -182788 Simple 730881906 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -0.84 1.3333333333333333 Uncertain significance 0 -182789 Simple 577969558 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -0.5700000000000001 1.0 Uncertain significance 0 -182791 Simple 142103232 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.17 0.5 Uncertain significance 0 -182792 Simple 373287455 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.2 0.5 Uncertain significance 0 -182793 Simple 62333013 G . Benign 2 2 not specified;Pancreatic adenocarcinoma 2017-07-10 -12.0 0.5 Benign/Likely benign 1 -182794 Simple 59633770 T . Benign/Likely benign 2 3 Carcinoma of pancreas;not specified;Pancreatic adenocarcinoma 2017-08-11 -13.2 1.6666666666666667 Benign/Likely benign 0 -182796 Simple 143268375 G . Benign/Likely benign 2 2 Carcinoma of pancreas;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -182798 Simple 730881908 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -0.87 0.6666666666666666 Uncertain significance 0 -182799 Simple 730881909 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-14 -0.5700000000000001 1.5 Uncertain significance 0 -182800 Simple 587779343 C . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-06 -1.14 1.25 Uncertain significance 0 -182801 Simple 142434011 T . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-06 -1.5 0.0 Uncertain significance 0 -182802 Simple 730881910 C . Uncertain significance 2 2 Lynch syndrome;not specified 2016-12-19 -0.5700000000000001 1.5 Uncertain significance 0 -182803 Simple 730881911 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182804 Simple 730881912 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-19 -0.87 0.6666666666666666 Uncertain significance 0 -182805 Simple 539285592 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-03 -1.2 0.0 Uncertain significance 0 -182807 Simple 730881914 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-07-20 -0.48 3.0 Uncertain significance 0 -182808 Simple 730881915 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182809 Simple 587780059 T . Pathogenic 2 5 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-03 29.4 1.0 Pathogenic 0 -182810 Simple 730881916 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-31 -0.54 1.5 Uncertain significance 0 -182811 Simple 730881917 T . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -1.2 0.5 Uncertain significance 0 -182816 Simple 200491279 T . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -12.9 2.0 Benign/Likely benign 0 -182817 Simple 730881919 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 -1.2 0.25 Uncertain significance 0 -182819 Simple 377720482 - . Benign/Likely benign 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-07-18 -13.2 1.6666666666666667 Benign/Likely benign 0 -182820 Simple 117081789 A . Benign 2 2 Nijmegen breakage syndrome-like disorder;not specified 2016-05-25 -10.2 2.5 Benign/Likely benign 1 -182823 Simple 368356436 T . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -9.6 2.3333333333333335 Benign/Likely benign 0 -182825 Simple 730881923 C . Benign/Likely benign 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -10.2 2.0 Benign/Likely benign 0 -182827 Simple 199886026 G . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.2 0.5 Uncertain significance 0 -182828 Simple 730881925 A . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.0 Uncertain significance 0 -182829 Simple 730881926 C . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.2 0.5 Uncertain significance 0 -182830 Simple 730881927 C . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.0 Uncertain significance 0 -182831 Simple 730881928 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-22 -0.6 1.0 Uncertain significance 0 -182832 Simple 375451955 G . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.14 1.0 Uncertain significance 0 -182834 Simple 730881930 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -0.87 1.0 Uncertain significance 0 -182835 Simple 730881931 C . Likely pathogenic 2 3 Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-09-06 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -182836 Simple 730881932 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-05 -0.87 1.0 Uncertain significance 0 -182840 Simple 730881935 - . Pathogenic 2 3 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-04-05 18.0 0.6666666666666666 Pathogenic 0 -182841 Simple 730881936 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -182842 Simple 730881937 G . Uncertain significance 2 2 Fanconi anemia, complementation group O;not specified 2016-02-04 -0.51 2.5 Uncertain significance 0 -182844 Simple 730881939 AA . Pathogenic 2 6 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-10-05 36.0 0.5 Pathogenic 0 -182845 Simple 730881940 AA . Pathogenic 2 4 Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 22.2 1.5 Pathogenic 0 -182846 Simple 730881941 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-06-01 8.4 1.0 Pathogenic/Likely pathogenic 0 -182847 Simple 730881942 - . Pathogenic, risk factor 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 28.2 1.2 Pathogenic 0 -182849 Simple 730882119 GG . Pathogenic 2 5 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-05-19 29.4 0.8 Pathogenic 0 -182850 Simple 730881944 - . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;not specified 2016-11-20 -0.54 2.0 Uncertain significance 0 -182851 Simple 730881945 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182852 Simple 114012742 C . Benign/Likely benign 2 7 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -27.3 1.5714285714285714 Benign 1 -182853 Simple 138557828 A . Benign/Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -13.2 1.75 Benign/Likely benign 0 -182854 Simple 374449943 T . Likely benign 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -8.7 1.0 Benign/Likely benign 1 -182855 Simple 730881946 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -1.1099999999999999 1.25 Uncertain significance 0 -182856 Simple 201313861 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182857 Simple 144603589 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-25 -0.51 2.5 Uncertain significance 0 -182858 Simple 141690729 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-12 -1.2 0.0 Uncertain significance 0 -182860 Simple 730881947 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-02-28 -1.2 1.0 Uncertain significance 0 -182861 Simple 730881948 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-02 -0.54 2.0 Uncertain significance 0 -182862 Simple 730881949 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -1.17 0.75 Uncertain significance 0 -182863 Simple 730881950 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -0.87 0.6666666666666666 Uncertain significance 0 -182865 Simple 150134822 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -1.2 0.25 Uncertain significance 0 -182866 Simple 372082751 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-02-09 -0.81 2.0 Uncertain significance 0 -182868 Simple 199809905 G . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -0.84 1.3333333333333333 Uncertain significance 0 -182870 Simple 730881953 G . Uncertain significance 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.5 0.2 Uncertain significance 0 -182872 Simple 730881955 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -0.54 2.0 Uncertain significance 0 -182879 Simple 730881960 - . Benign/Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-09-06 -13.8 1.6666666666666667 Benign/Likely benign 0 -182881 Simple 536282050 - . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-07-25 -12.9 2.0 Benign/Likely benign 0 -182883 Simple 566823619 T . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -13.2 1.75 Benign/Likely benign 0 -182885 Simple 730881963 A . Benign/Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -16.2 1.6 Benign/Likely benign 0 -182886 Simple 148928808 T . Benign/Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -16.5 1.4 Benign/Likely benign 0 -182887 Simple 546089394 T . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -13.2 1.25 Benign/Likely benign 0 -182888 Simple 730881964 T . Benign/Likely benign 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -10.8 1.3333333333333333 Benign/Likely benign 0 -182889 Simple 730881965 G . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -13.5 1.25 Benign/Likely benign 0 -182890 Simple 375328708 T . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-15 -13.5 1.25 Benign/Likely benign 0 -182905 Simple 587782783 G . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-07 -1.2 0.75 Uncertain significance 0 -182906 Simple 567769257 A . Uncertain significance 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -1.41 1.6 Uncertain significance 0 -182908 Simple 730881980 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;not specified 2017-05-30 -0.5700000000000001 1.0 Uncertain significance 0 -182909 Simple 730881981 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.2 0.75 Uncertain significance 0 -182910 Simple 730881982 A . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.84 1.3333333333333333 Uncertain significance 0 -182913 Simple 587782424 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2014-03-20 9.0 3.5 Pathogenic/Likely pathogenic 1 -182914 Simple 730881986 C . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-27 -0.8999999999999999 1.0 Uncertain significance 0 -182915 Simple 730881987 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;not specified 2016-06-12 -0.54 2.0 Uncertain significance 0 -182916 Simple 730881988 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.5700000000000001 1.0 Uncertain significance 0 -182918 Simple 730881990 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-21 -1.2 0.0 Uncertain significance 0 -182919 Simple 730881991 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-20 -0.54 2.0 Uncertain significance 0 -182920 Simple 730881992 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -1.1400000000000001 1.5 Uncertain significance 0 -182922 Simple 372201428 A . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182923 Simple 730881994 A . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified 2017-02-09 -0.54 2.0 Uncertain significance 0 -182925 Simple 730881996 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-21 -0.54 2.0 Uncertain significance 0 -182926 Simple 730881997 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-17 -0.5700000000000001 1.5 Uncertain significance 0 -182927 Simple 730881998 G . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified 2017-02-06 -0.54 2.0 Uncertain significance 0 -182930 Simple 730882001 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-01-03 16.8 1.6666666666666667 Pathogenic 0 -182933 Simple 730882003 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-22 -0.81 2.0 Uncertain significance 0 -182937 Simple 730882007 G . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-12-08 9.0 1.0 Pathogenic/Likely pathogenic 0 -182939 Simple 730882009 C . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -182940 Simple 573130482 G . Benign/Likely benign 2 5 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -16.2 1.2 Benign/Likely benign 0 -182950 Simple 730882013 . . Benign/Likely benign 2 3 Li-Fraumeni syndrome 1;Hereditary cancer-predisposing syndrome 2016-06-02 -9.6 2.6666666666666665 Benign/Likely benign 0 -182951 Simple 368691910 A . Benign/Likely benign 2 3 Li-Fraumeni syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2016-03-22 -10.5 2.0 Benign/Likely benign 0 -182952 Simple 150293825 A . Benign/Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -12.9 2.0 Benign/Likely benign 0 -182953 Simple 730882014 CA . Uncertain significance 2 5 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.5 0.6 Uncertain significance 0 -182957 Simple 730882018 GG . Pathogenic 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-11 16.8 1.3333333333333333 Pathogenic 0 -182958 Simple 730882019 GG . Pathogenic 2 2 Li-Fraumeni-like syndrome;Hereditary cancer-predisposing syndrome 2016-05-12 10.8 2.0 Pathogenic/Likely pathogenic 1 -182968 Simple 587781525 A . Pathogenic/Likely pathogenic 2 2 Liver cancer;Chronic lymphocytic leukemia;Malignant melanoma of skin;Multiple myeloma;Neuroblastoma;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Kidney cancer;Squamous cell carcinoma of lung;not provided;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma 2016-05-31 7.199999999999999 3.0 Likely pathogenic 1 -182969 Simple 730882028 G . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.2 0.25 Uncertain significance 0 -182970 Simple 730882029 A . Pathogenic 2 3 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-07 18.0 0.0 Pathogenic 0 -182978 Simple 119103277 A . Pathogenic 2 2 Von Hippel-Lindau syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -182980 Simple 121913346 C . Pathogenic 2 2 Von Hippel-Lindau syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-28 10.8 2.0 Pathogenic/Likely pathogenic 1 -182981 Simple 111246617 T . Uncertain significance 2 4 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.5 Uncertain significance 0 -182982 Simple 373068386 T . Uncertain significance 2 2 Von Hippel-Lindau syndrome;not specified 2017-09-18 -0.6 0.0 Uncertain significance 0 -182983 Simple 730882035 A . Pathogenic 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-22 17.4 1.0 Pathogenic 0 -182984 Simple 370050374 C . Uncertain significance 2 2 Von Hippel-Lindau syndrome;not specified 2015-05-27 -0.51 2.5 Uncertain significance 0 -182991 Simple 730882040 T . Uncertain significance 2 2 not specified 2017-03-17 -0.6 0.5 Uncertain significance 0 -182996 Simple 149099078 G . Uncertain significance 2 2 not specified 2016-12-21 -0.6 1.0 Uncertain significance 0 -182997 Simple 56103026 C . Uncertain significance 2 2 not specified 2017-03-21 -0.6 0.5 Uncertain significance 0 -183063 Simple 730882125 T . Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -14.1 1.2 Benign/Likely benign 1 -183064 Simple 73169186 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-15 -0.6 1.0 Uncertain significance 0 -183065 Simple 149383809 A . Uncertain significance 2 3 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-08-31 -0.87 0.6666666666666666 Uncertain significance 0 -183069 Simple 730882128 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.17 0.75 Uncertain significance 0 -183078 Simple 730882135 - . Pathogenic 2 4 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-12 23.4 0.75 Pathogenic 0 -183079 Simple 730882136 GGGGCGGGGC . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;not provided 2017-02-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -183081 Simple 730882138 TT . Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-26 -11.4 1.0 Benign/Likely benign 1 -183087 Simple 730882082 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-11-05 6.0 1.0 Likely pathogenic 1 -183091 Simple 730882085 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-03-25 5.7 1.5 Likely pathogenic 1 -183092 Simple 373822756 G . Pathogenic/Likely pathogenic 2 8 Familial hypercholesterolemia;not provided 2017-04-03 37.2 1.125 Pathogenic 1 -183093 Simple 730882086 A . Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-03-25 5.7 1.5 Likely pathogenic 0 -183098 Simple 730882090 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia;not provided 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -183102 Simple 72658858 A . Uncertain significance 2 2 Familial hypercholesterolemia;not specified;not provided 2017-01-24 -0.6 1.0 Uncertain significance 0 -183110 Simple 570942190 T . Pathogenic/Likely pathogenic 2 8 Familial hypercholesterolemia;not provided 2017-03-30 32.4 1.125 Pathogenic 1 -183126 Simple 201102492 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-11-05 6.0 1.0 Likely pathogenic 1 -183136 Simple 200727689 A . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia;not provided 2017-06-29 20.4 1.0 Pathogenic 1 -183177 Simple 730882164 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 0.75 Pathogenic 0 -183178 Simple 730882165 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -183180 Simple 730882167 AAA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -183182 Simple 56383036 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -183184 Simple 730882168 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -183185 Simple 730882169 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -183255 Simple 61889560 A . Uncertain significance 2 2 Polycystic kidney disease, adult type;not specified 2017-06-07 -0.6 0.5 Uncertain significance 0 -183298 Simple 200133991 T . Pathogenic/Likely pathogenic 2 2 Hereditary spastic paraplegia;Neurodegeneration with brain iron accumulation 4;Neurodegeneration;Brain iron accummulation 2017-03-07 9.0 0.5 Pathogenic/Likely pathogenic 0 -183307 Simple 730882217 - . Pathogenic/Likely pathogenic 2 3 Joubert syndrome 17;not provided;Global developmental delay;Typical Joubert syndrome MRI findings 2016-05-06 16.2 2.0 Pathogenic 1 -183353 Simple 730882246 A . Pathogenic/Likely pathogenic 2 3 Failure to thrive;Spastic tetraplegia;Optic atrophy;Muscular hypotonia of the trunk;not provided;Optic atrophy;Global developmental delay;Death in infancy;High CSF lactic acid;Neurodegeration;Multiple mitochondrial dysfunctions syndrome 4;Multiple mitochondrial dysfunctions syndrome 2017-11-08 15.0 0.3333333333333333 Pathogenic 1 -183364 Simple 190582637 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-30 -14.4 1.0 Benign/Likely benign 0 -183401 Simple 869025189 G . Pathogenic 2 3 Noonan syndrome;not provided;Noonan syndrome 8 2017-07-28 17.4 1.0 Pathogenic 0 -183403 Simple 869025191 T . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;not provided;Noonan syndrome 8 2017-10-27 9.0 0.0 Pathogenic/Likely pathogenic 0 -183405 Simple 869025193 C . Pathogenic 2 3 Noonan syndrome;not specified;not provided;Noonan syndrome 8 2017-01-05 17.4 1.3333333333333333 Pathogenic 0 -183408 Simple 869025194 C . Pathogenic 2 2 Noonan syndrome;not provided;Noonan syndrome 8 2017-08-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -183418 Simple 730882175 T . Pathogenic 2 2 Zimmermann-Laband syndrome 1;not provided 2017-11-16 12.0 0.0 Pathogenic/Likely pathogenic 1 -183696 Simple 1061302 C . Benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -28.2 1.4 Benign 0 -183697 Simple 1063045 T . Benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -28.2 1.4 Benign 0 -183698 Simple 1048108 A . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-10 -24.6 1.4 Benign 1 -183699 Simple 146104321 G . Benign/Likely benign 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -19.8 1.4 Benign/Likely benign 0 -183700 Simple 1126497 C . Benign/Likely benign 2 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -24.6 1.4 Benign 1 -183701 Simple 709816 G . Benign 2 6 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -33.0 1.6666666666666667 Benign 0 -183702 Simple 4986763 G . Benign/Likely benign 2 9 Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-10 -46.2 1.2222222222222223 Benign 1 -183703 Simple 4986765 C . Benign/Likely benign 2 9 Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-07-10 -46.2 1.2222222222222223 Benign 1 -183704 Simple 2070093 G . Benign/Likely benign 2 5 not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-07 -25.2 1.4 Benign 1 -183705 Simple 1804670 C . Benign 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-08-21 -16.8 1.3333333333333333 Benign/Likely benign 1 -183706 Simple 587781128 A . Benign/Likely benign 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-27 -10.8 1.3333333333333333 Benign/Likely benign 0 -183707 Simple 3218674 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -19.2 1.5 Benign/Likely benign 0 -183708 Simple 11818239 A . Benign 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-08-21 -34.8 1.0 Benign 0 -183709 Simple 55845713 C . Benign/Likely benign 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -22.8 1.1666666666666667 Benign/Likely benign 0 -183710 Simple 1805319 A . Benign/Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -10.5 1.6666666666666667 Benign/Likely benign 0 -183711 Simple 786201038 - . Pathogenic 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 10.8 1.5 Pathogenic/Likely pathogenic 1 -183712 Simple 370908330 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-11 -0.6 0.5 Uncertain significance 0 -183713 Simple 542189325 T . Benign/Likely benign 2 6 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -22.5 1.3333333333333333 Benign/Likely benign 0 -183714 Simple 63750498 A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-06 -0.87 1.0 Uncertain significance 0 -183715 Simple 56132616 T . Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 -11.4 1.25 Benign/Likely benign 1 -183716 Simple 573125799 T . Pathogenic 2 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-12-06 29.4 1.2 Pathogenic 0 -183717 Simple 61748084 C . Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -11.1 1.5 Benign/Likely benign 1 -183720 Simple 786201040 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-01 8.4 2.0 Pathogenic/Likely pathogenic 0 -183723 Simple 786201042 T . Pathogenic/Likely pathogenic 2 7 Endometrial carcinoma;Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-09 40.2 0.8571428571428571 Pathogenic 1 -183724 Simple 587782281 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-09 18.0 0.3333333333333333 Pathogenic 0 -183725 Simple 369685768 G . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -13.8 1.5 Benign/Likely benign 0 -183726 Simple 786201044 C . Pathogenic 2 3 PTEN hamartoma tumor syndrome;Acute megakaryoblastic leukemia;not provided;Hereditary cancer-predisposing syndrome;Mediastinal germ cell tumor 2017-09-28 18.0 0.0 Pathogenic 0 -183728 Simple 764466442 T . Pathogenic 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 12.0 0.5 Pathogenic/Likely pathogenic 1 -183730 Simple 146777069 T . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-12 -13.8 1.5 Benign/Likely benign 0 -183731 Simple 35741240 A . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -11.4 1.25 Benign/Likely benign 1 -183733 Simple 372316981 T . Uncertain significance 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -1.5 0.6 Uncertain significance 0 -183735 Simple 200245469 A . Likely pathogenic 2 2 Paragangliomas 4;Hereditary cancer-predisposing syndrome 2017-03-03 6.0 1.0 Likely pathogenic 0 -183738 Simple 201673334 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -183740 Simple 373710656 A . Likely benign 2 4 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-19 -10.8 1.75 Benign/Likely benign 1 -183741 Simple 786201051 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-05 -5.7 1.0 Likely benign 0 -183743 Simple 766618212 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-26 -11.4 1.0 Benign/Likely benign 1 -183744 Simple 756465544 G . Uncertain significance 2 8 Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2016-08-17 -2.34 1.25 Uncertain significance 0 -183745 Simple 745665968 T . Benign/Likely benign 2 5 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-25 -17.1 1.4 Benign/Likely benign 0 -183746 Simple 758377868 C . Uncertain significance 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2016-09-09 -1.44 1.4 Uncertain significance 0 -183747 Simple 397516836 A . Pathogenic 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2016-12-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -183749 Simple 147815442 A . Likely benign 2 4 Gastrointestinal stromal tumor;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-08-07 -11.4 1.25 Benign/Likely benign 1 -183752 Simple 786201059 T . Pathogenic/Likely pathogenic 2 3 Liver cancer;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Adenocarcinoma of lung;Li-Fraumeni syndrome;Acute myeloid leukemia;not provided;Neoplasm of brain;Neoplasm of the breast;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Vulvar adenocarcinoma of mammary gland type 2017-08-08 13.8 1.0 Pathogenic/Likely pathogenic 0 -183753 Simple 764575966 T . Pathogenic 2 5 Paragangliomas 3;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 30.0 0.2 Pathogenic 0 -183755 Simple 786201062 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-11 18.0 0.3333333333333333 Pathogenic 0 -183756 Simple 201132087 A . Benign/Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 -11.7 1.0 Benign/Likely benign 0 -183758 Simple 548407418 C . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-30 -1.5 0.6 Uncertain significance 0 -183759 Simple 768966657 GACGAC . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-12-14 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -183760 Simple 750528093 C . Conflicting interpretations of pathogenicity 1 5 Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-15 14.4 0.8 Pathogenic/Likely pathogenic 3 -183762 Simple 35062043 AA . Benign/Likely benign 2 3 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-01-26 -14.1 2.0 Benign/Likely benign 0 -183764 Simple 140641762 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -8.7 1.0 Benign/Likely benign 1 -183765 Simple 376455714 T . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-01-16 -11.7 1.25 Benign/Likely benign 1 -183766 Simple 77921116 G . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-21 -25.2 1.4 Benign 1 -183767 Simple 74380081 G . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-21 -25.2 1.4 Benign 1 -183772 Simple 769486350 G . Benign/Likely benign 2 3 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-07-11 -14.7 1.3333333333333333 Benign/Likely benign 0 -183774 Simple 786201073 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-05 -6.0 0.5 Likely benign 0 -183776 Simple 76844014 A . Likely benign 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -26.1 1.25 Benign 2 -183777 Simple 757427498 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -183778 Simple 114708971 T . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -13.5 1.75 Benign/Likely benign 0 -183779 Simple 138049175 T . Benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-21 -27.0 1.6 Benign 0 -183780 Simple 144011908 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 -8.7 1.0 Benign/Likely benign 1 -183781 Simple 141443872 T . Benign/Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -13.8 1.5 Benign/Likely benign 0 -183782 Simple 762501162 C . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -4.8 2.5 Likely benign 0 -183783 Simple 786201077 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -183784 Simple 770256026 A . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-29 -14.100000000000001 1.5 Benign/Likely benign 0 -183785 Simple 9901455 A . Benign/Likely benign 2 5 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility 2016-06-28 -24.6 1.8 Benign 1 -183786 Simple 772854836 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -183788 Simple 747266339 T . Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-08 -11.7 1.0 Benign/Likely benign 1 -183789 Simple 749752524 C . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -8.4 1.3333333333333333 Benign/Likely benign 1 -183791 Simple 747201171 T . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-07 -9.0 0.6666666666666666 Benign/Likely benign 1 -183792 Simple 138514571 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-02 -5.4 1.5 Likely benign 0 -183793 Simple 772551056 T . Pathogenic/Likely pathogenic 2 4 Paragangliomas 4;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-09-11 21.0 0.25 Pathogenic 1 -183794 Simple 786201084 T . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-09-27 18.0 0.0 Pathogenic 0 -183798 Simple 786201088 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -11.4 0.75 Benign/Likely benign 1 -183799 Simple 751888926 G . Likely benign 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 -8.4 1.3333333333333333 Benign/Likely benign 1 -183800 Simple 376083300 T . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -11.4 1.25 Benign/Likely benign 1 -183801 Simple 368059229 A . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-30 -13.8 1.25 Benign/Likely benign 0 -183802 Simple 786201090 T . Pathogenic/Likely pathogenic 2 3 Peutz-Jeghers syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-27 18.0 0.6666666666666666 Pathogenic 1 -183803 Simple 781317341 T . Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -14.1 1.4 Benign/Likely benign 1 -183804 Simple 142572387 G . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-02-09 -11.1 1.75 Benign/Likely benign 1 -183805 Simple 55861249 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -8.1 1.6666666666666667 Likely benign 0 -183806 Simple 560691658 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -9.0 0.3333333333333333 Benign/Likely benign 1 -183807 Simple 780270498 A . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-06 -7.8 2.0 Likely benign 0 -183808 Simple 540172506 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -17.1 1.25 Benign/Likely benign 0 -183809 Simple 374170772 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-07 -11.7 1.0 Benign/Likely benign 1 -183811 Simple 202075199 T . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -13.5 1.75 Benign/Likely benign 0 -183812 Simple 375843744 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -5.7 1.0 Likely benign 0 -183813 Simple 774050888 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-05 -8.4 1.3333333333333333 Benign/Likely benign 1 -183814 Simple 786201095 C . Pathogenic/Likely pathogenic 2 3 Paragangliomas 4;Carney triad;not provided;Hereditary cancer-predisposing syndrome 2017-09-18 18.0 0.3333333333333333 Pathogenic 1 -183815 Simple 376788924 A . Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -14.7 1.0 Benign/Likely benign 1 -183816 Simple 141679570 A . Benign/Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -11.4 1.25 Benign/Likely benign 0 -183817 Simple 760191806 A . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -11.4 1.25 Benign/Likely benign 1 -183818 Simple 777872290 G . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -11.1 1.5 Benign/Likely benign 1 -183820 Simple 201526888 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-14 -8.4 1.0 Benign/Likely benign 1 -183821 Simple 35800931 A . Benign/Likely benign 2 4 Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -17.1 1.5 Benign/Likely benign 0 -183822 Simple 751823379 C . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -11.4 1.5 Benign/Likely benign 1 -183823 Simple 587778537 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-25 -0.6 0.5 Uncertain significance 0 -183824 Simple 771419468 C . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -8.7 0.6666666666666666 Benign/Likely benign 1 -183825 Simple 1801052 A . Benign/Likely benign 2 9 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -39.0 1.4444444444444444 Benign 1 -183826 Simple 2285892 A . Benign/Likely benign 2 8 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2016-08-15 -33.0 1.625 Benign 1 -183827 Simple 759476003 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-27 -5.7 1.0 Likely benign 0 -183828 Simple 62625283 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.2 0.5 Uncertain significance 0 -183830 Simple 755261743 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-07 -4.5 3.5 Likely benign 0 -183831 Simple 778031876 T . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -11.7 0.75 Benign/Likely benign 1 -183832 Simple 766559927 G . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -14.7 0.75 Benign/Likely benign 0 -183833 Simple 547316616 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-12 -4.8 3.0 Likely benign 0 -183834 Simple 370226185 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-15 -5.7 1.5 Likely benign 0 -183836 Simple 143458271 T . Benign/Likely benign 2 5 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-02 -17.1 1.2 Benign/Likely benign 0 -183837 Simple 146430937 A . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -26.34 1.4285714285714286 Benign 2 -183838 Simple 139110184 T . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -13.8 1.25 Benign/Likely benign 0 -183839 Simple 786201104 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -183840 Simple 786201105 T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-02-23 -4.8 3.0 Likely benign 0 -183843 Simple 4986846 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.4 1.2 Benign/Likely benign 1 -183844 Simple 745699485 C . Likely benign 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-19 -11.4 1.25 Benign/Likely benign 1 -183845 Simple 786201108 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-26 -6.0 0.5 Likely benign 0 -183848 Simple 786201111 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -183849 Simple 750578863 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -5.4 1.5 Likely benign 0 -183850 Simple 746122031 A . Likely benign 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-10 -14.4 1.2 Benign/Likely benign 1 -183851 Simple 786201114 T . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-08-01 -8.7 1.3333333333333333 Benign/Likely benign 1 -183852 Simple 530464947 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -183854 Simple 786201116 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -8.7 1.0 Benign/Likely benign 1 -183855 Simple 368690455 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.7 0.8333333333333334 Benign/Likely benign 1 -183857 Simple 786201118 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-20 10.8 2.0 Pathogenic/Likely pathogenic 1 -183858 Simple 761558457 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-12-06 -5.4 2.0 Likely benign 0 -183861 Simple 142813526 T . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -11.4 0.75 Benign/Likely benign 1 -183862 Simple 768803229 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-10-01 -5.7 1.5 Likely benign 0 -183864 Simple 768547540 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-08-15 -8.1 1.6666666666666667 Likely benign 0 -183865 Simple 786201125 G . Likely benign 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-22 -16.2 2.0 Benign/Likely benign 1 -183867 Simple 150789339 T . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -16.5 1.6 Benign/Likely benign 0 -183870 Simple 763378916 C . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -8.4 1.3333333333333333 Benign/Likely benign 1 -183871 Simple 80358491 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -183872 Simple 746067447 T . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -183873 Simple 373709958 A . Benign/Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-17 -13.5 1.75 Benign/Likely benign 0 -183874 Simple 786201130 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-08 -6.0 0.5 Likely benign 0 -183875 Simple 786201131 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -6.0 0.5 Likely benign 0 -183876 Simple 190070312 T . Likely benign 2 6 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -17.1 1.1666666666666667 Benign/Likely benign 1 -183877 Simple 751234924 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-30 -8.1 1.6666666666666667 Likely benign 0 -183878 Simple 377040690 A . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-22 -16.5 1.8 Benign/Likely benign 0 -183879 Simple 748622028 G . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -0.87 1.0 Uncertain significance 0 -183881 Simple 144186349 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-07 -5.4 1.5 Likely benign 0 -183882 Simple 763525239 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-31 -6.0 0.5 Likely benign 0 -183884 Simple 786201137 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-08 -6.0 1.0 Likely benign 0 -183885 Simple 786201138 G . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-08-04 -5.1 2.0 Likely benign 0 -183886 Simple 762740478 G . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-20 -8.7 0.6666666666666666 Benign/Likely benign 1 -183887 Simple 142292491 A . Likely benign 2 4 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-11 -11.4 1.25 Benign/Likely benign 1 -183888 Simple 376624613 C . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -11.7 0.5 Benign/Likely benign 1 -183889 Simple 781440401 C . Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -17.1 1.1666666666666667 Benign/Likely benign 1 -183890 Simple 758448869 T . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -14.1 1.5 Benign/Likely benign 0 -183892 Simple 776931237 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -11.1 1.5 Benign/Likely benign 1 -183893 Simple 587779340 A . Pathogenic/Likely pathogenic 2 6 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-14 29.7 0.6666666666666666 Pathogenic 1 -183894 Simple 546441038 T . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -13.8 1.25 Benign/Likely benign 0 -183895 Simple 45512798 T . Benign/Likely benign 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -19.5 1.5 Benign/Likely benign 0 -183896 Simple 765123255 A . Pathogenic/Likely pathogenic 2 7 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-09-15 28.5 0.8571428571428571 Pathogenic 1 -183899 Simple 142172006 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-15 -11.4 1.0 Benign/Likely benign 1 -183903 Simple 142813240 T . Likely benign 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -8.4 1.3333333333333333 Benign/Likely benign 1 -183904 Simple 534731345 C . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-08-08 -8.7 1.0 Benign/Likely benign 0 -183906 Simple 148358896 A . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -183907 Simple 786201151 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -11.4 1.25 Benign/Likely benign 1 -183908 Simple 199702045 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-25 -5.7 1.0 Likely benign 0 -183909 Simple 745699485 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-18 -8.4 1.3333333333333333 Benign/Likely benign 1 -183911 Simple 774245273 C . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -11.4 1.0 Benign/Likely benign 1 -183912 Simple 773126534 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-30 -5.4 1.5 Likely benign 0 -183913 Simple 771662801 T . Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 -14.100000000000001 1.4 Benign/Likely benign 1 -183914 Simple 577076372 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -11.1 1.5 Benign/Likely benign 1 -183916 Simple 542687218 A . Likely benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.7 1.0 Benign/Likely benign 1 -183919 Simple 141001261 A . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -25.2 1.4285714285714286 Benign 1 -183923 Simple 372996269 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -8.4 1.3333333333333333 Benign/Likely benign 1 -183924 Simple 786201160 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -183925 Simple 786201161 C . Pathogenic/Likely pathogenic 2 3 Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome;SDHB-Related Disorders 2017-05-25 14.4 1.0 Pathogenic/Likely pathogenic 0 -183926 Simple 760990830 G . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -5.1 2.0 Likely benign 0 -183928 Simple 771535363 T . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-04 -6.0 0.5 Likely benign 0 -183929 Simple 758170249 T . Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -14.1 1.2 Benign/Likely benign 1 -183931 Simple 761925468 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-10-26 -1.14 1.0 Uncertain significance 0 -183934 Simple 374396150 A . Likely benign 2 3 Lynch syndrome I;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -9.0 0.6666666666666666 Benign/Likely benign 1 -183935 Simple 748055132 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-10 -9.0 0.6666666666666666 Benign/Likely benign 1 -183936 Simple 367758473 T . Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -11.4 1.25 Benign/Likely benign 1 -183937 Simple 786201171 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-15 -5.1 2.5 Likely benign 0 -183939 Simple 749180334 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-12 -9.0 0.3333333333333333 Benign/Likely benign 1 -183940 Simple 761017296 C . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-11-09 -8.4 1.6666666666666667 Benign/Likely benign 1 -183942 Simple 786201175 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-11-08 -0.87 0.6666666666666666 Uncertain significance 0 -183943 Simple 786201176 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-05-13 -5.7 1.5 Likely benign 0 -183945 Simple 761222871 A . Likely benign 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-02 -8.7 1.3333333333333333 Benign/Likely benign 1 -183946 Simple 750001065 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-05 -8.7 1.0 Benign/Likely benign 1 -183949 Simple 17883704 A . Benign/Likely benign 2 9 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -39.6 1.3333333333333333 Benign 1 -183950 Simple 769650474 G . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -22.740000000000002 1.2 Benign/Likely benign 1 -183951 Simple 765656957 G . Benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-08-10 -25.14 1.3333333333333333 Benign 0 -183953 Simple 786201184 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-22 -0.5700000000000001 1.5 Uncertain significance 0 -183954 Simple 786201185 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-05-07 -0.54 2.0 Uncertain significance 0 -183955 Simple 772555970 C . Likely benign 2 4 Lynch syndrome II;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-17 -11.7 0.75 Benign/Likely benign 1 -183956 Simple 56076152 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-10 -8.4 1.3333333333333333 Benign/Likely benign 1 -183957 Simple 752308575 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -183959 Simple 367767415 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-09-25 -5.4 2.0 Likely benign 0 -183960 Simple 149201802 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-08-03 -5.4 1.5 Likely benign 0 -183962 Simple 142835322 G . Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -14.4 1.2 Benign/Likely benign 1 -183963 Simple 377668478 A . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -13.8 1.25 Benign/Likely benign 0 -183964 Simple 786201189 T . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-16 -5.4 1.5 Likely benign 0 -183965 Simple 778782508 A . Likely benign 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -14.1 1.4 Benign/Likely benign 1 -183966 Simple 763839047 T . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -11.4 1.0 Benign/Likely benign 1 -183967 Simple 750048627 C . Likely benign 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-20 -11.1 1.5 Benign/Likely benign 1 -183969 Simple 756619373 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -183970 Simple 777096746 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-25 -6.0 0.5 Likely benign 0 -183971 Simple 374310157 A . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-02 -20.4 1.2 Benign/Likely benign 0 -183972 Simple 778601472 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -11.7 0.5 Benign/Likely benign 1 -183974 Simple 377493489 G . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -8.4 1.0 Benign/Likely benign 1 -183975 Simple 786201198 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -183977 Simple 771695599 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-01 -0.6 0.5 Uncertain significance 0 -183979 Simple 786201201 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -183980 Simple 773968042 T . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-09-28 -0.6 0.0 Uncertain significance 0 -183982 Simple 786201203 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -183983 Simple 772608345 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-06 -6.0 1.0 Likely benign 0 -183984 Simple 786201205 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-26 -0.6 0.5 Uncertain significance 0 -183985 Simple 142692907 T . Benign/Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-19 -11.4 1.3333333333333333 Benign/Likely benign 0 -183987 Simple 1799968 G . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -21.0 0.8 Benign/Likely benign 1 -183988 Simple 769190318 C . Likely benign 2 7 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -20.1 1.1428571428571428 Benign/Likely benign 1 -183989 Simple 778014929 G . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-06-15 -8.4 1.6666666666666667 Benign/Likely benign 1 -183990 Simple 781323381 A . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -11.4 1.0 Benign/Likely benign 1 -183991 Simple 45458996 T . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -8.4 1.3333333333333333 Benign/Likely benign 1 -183994 Simple 751619208 T . Likely benign 2 4 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -11.4 1.25 Benign/Likely benign 1 -183995 Simple 200735689 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -8.1 1.6666666666666667 Likely benign 0 -183996 Simple 80358746 C . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.7 1.0 Benign/Likely benign 1 -183998 Simple 786201212 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -184001 Simple 772940660 T . Likely benign 2 4 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-05-18 -11.4 1.0 Benign/Likely benign 1 -184002 Simple 786201215 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -0.6 0.5 Uncertain significance 0 -184003 Simple 786201216 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.6 Benign/Likely benign 1 -184004 Simple 748453607 A . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2016-10-31 -11.1 1.75 Benign/Likely benign 1 -184005 Simple 141001592 T . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -14.4 1.25 Benign/Likely benign 0 -184007 Simple 752817595 T . Likely benign 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-12-24 -8.1 2.0 Likely benign 0 -184009 Simple 758619186 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -8.4 1.3333333333333333 Benign/Likely benign 1 -184010 Simple 150603052 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-02 -8.4 1.6666666666666667 Benign/Likely benign 1 -184011 Simple 587782687 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-07 -1.17 1.0 Uncertain significance 0 -184012 Simple 769013935 T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-11-14 -9.0 1.0 Benign/Likely benign 1 -184013 Simple 786201222 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -5.7 1.0 Likely benign 0 -184014 Simple 779000871 A . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -1.1400000000000001 1.0 Uncertain significance 0 -184015 Simple 786201224 A . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.969999999999999 1.0 Benign/Likely benign 1 -184016 Simple 569380138 T . Likely benign 2 4 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-08-10 -11.4 1.0 Benign/Likely benign 1 -184017 Simple 1799953 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.8 1.4 Benign/Likely benign 1 -184018 Simple 149605979 T . Benign/Likely benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -17.1 1.0 Benign/Likely benign 0 -184021 Simple 185506536 C . Likely benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -25.5 1.25 Benign 2 -184022 Simple 786201226 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-03 -6.0 0.0 Likely benign 0 -184023 Simple 746289994 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-20 -8.4 1.3333333333333333 Benign/Likely benign 1 -184024 Simple 142728382 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -11.7 0.5 Benign/Likely benign 1 -184027 Simple 762935810 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184028 Simple 147381487 G . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.1 1.0 Benign/Likely benign 1 -184029 Simple 760655471 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -184030 Simple 786201232 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -184031 Simple 369097329 A . Benign/Likely benign 2 6 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -22.5 1.5 Benign/Likely benign 0 -184032 Simple 764244639 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-24 -1.17 1.0 Uncertain significance 0 -184034 Simple 765432756 C . Likely benign 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.94 1.0 Benign/Likely benign 1 -184035 Simple 786201236 C . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.94 1.3333333333333333 Benign/Likely benign 1 -184036 Simple 786201237 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -184037 Simple 755130086 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.3333333333333333 Benign/Likely benign 1 -184039 Simple 748894760 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -1.38 1.6 Uncertain significance 0 -184040 Simple 752849892 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -8.4 1.3333333333333333 Benign/Likely benign 1 -184041 Simple 765644162 G . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -24.6 1.4285714285714286 Benign 2 -184042 Simple 139200646 A . Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -11.7 0.75 Benign/Likely benign 1 -184043 Simple 138493551 A . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-18 -8.7 0.6666666666666666 Benign/Likely benign 1 -184046 Simple 768780695 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 -1.17 0.75 Uncertain significance 0 -184047 Simple 369033659 T . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-10-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -184048 Simple 375275361 G . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -5.7 1.0 Likely benign 0 -184050 Simple 751628735 A . Uncertain significance 2 5 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-26 -1.47 0.4 Uncertain significance 0 -184051 Simple 786201248 A . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -184053 Simple 781466318 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -184054 Simple 760285673 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-30 -8.4 1.3333333333333333 Benign/Likely benign 1 -184056 Simple 145377856 T . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.5 Uncertain significance 0 -184057 Simple 17881467 C . Benign/Likely benign 2 4 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -18.6 1.5 Benign/Likely benign 0 -184059 Simple 371673459 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-01 -5.1 2.5 Likely benign 0 -184060 Simple 757730609 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-26 -8.4 1.3333333333333333 Benign/Likely benign 1 -184061 Simple 759383358 G . Benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-08-10 -30.51 2.0 Benign 0 -184062 Simple 760272304 G . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.67 1.5 Benign/Likely benign 1 -184063 Simple 573514896 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.5 Benign/Likely benign 1 -184064 Simple 786201256 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.97 1.2 Benign/Likely benign 1 -184065 Simple 786201257 A . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-12-20 -8.1 2.0 Likely benign 0 -184066 Simple 786201258 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -184067 Simple 373811706 T . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -13.8 1.5 Benign/Likely benign 0 -184068 Simple 748040144 G . Likely benign 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-08 -11.4 1.0 Benign/Likely benign 1 -184070 Simple 786201261 C . Likely benign 2 4 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-03-30 -11.1 1.25 Benign/Likely benign 1 -184071 Simple 138571760 C . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -16.8 1.4 Benign/Likely benign 0 -184073 Simple 761278013 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-12-13 -12.0 1.0 Benign/Likely benign 1 -184074 Simple 759743897 A . Likely benign 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-21 -8.4 1.6666666666666667 Benign/Likely benign 1 -184076 Simple 778855056 T . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-17 -8.7 1.0 Benign/Likely benign 1 -184077 Simple 786201267 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -11.1 1.5 Benign/Likely benign 1 -184078 Simple 145751759 G . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -16.8 1.4 Benign/Likely benign 0 -184079 Simple 569483748 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -13.8 1.5 Benign/Likely benign 0 -184080 Simple 752858082 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.1666666666666667 Benign/Likely benign 1 -184081 Simple 786201269 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-15 -5.1 2.5 Likely benign 0 -184083 Simple 747727600 C . Likely benign 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -11.1 1.5 Benign/Likely benign 1 -184084 Simple 769772524 A . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -5.4 1.5 Likely benign 0 -184085 Simple 145430811 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-12 -8.1 1.6666666666666667 Likely benign 0 -184086 Simple 397507949 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184087 Simple 373810778 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184090 Simple 80358784 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -184091 Simple 114265540 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -11.4 1.25 Benign/Likely benign 1 -184092 Simple 116314131 T . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-09 -1.44 1.0 Uncertain significance 0 -184093 Simple 781593101 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-16 -5.4 2.0 Likely benign 0 -184095 Simple 151080730 T . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -16.5 1.4 Benign/Likely benign 0 -184096 Simple 377625784 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-11 -5.4 1.5 Likely benign 0 -184097 Simple 775515332 G . Likely benign 2 6 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -17.4 1.1666666666666667 Benign/Likely benign 1 -184101 Simple 746639322 C . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -8.4 1.3333333333333333 Benign/Likely benign 1 -184108 Simple 786201284 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184109 Simple 750113197 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184110 Simple 757936216 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.1 1.75 Benign/Likely benign 1 -184111 Simple 786201287 T . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-12-26 -8.1 2.0 Likely benign 0 -184113 Simple 373696964 T . Likely benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -23.1 1.25 Benign/Likely benign 1 -184114 Simple 756165637 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -6.0 0.5 Likely benign 0 -184116 Simple 762629631 A . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -12.0 0.75 Benign/Likely benign 1 -184117 Simple 786201291 G . Pathogenic/Likely pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-08-25 15.0 0.3333333333333333 Pathogenic 1 -184119 Simple 80358424 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184120 Simple 28897697 A . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.8333333333333334 Benign/Likely benign 1 -184121 Simple 571803328 T . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-10-11 -8.7 1.3333333333333333 Benign/Likely benign 1 -184123 Simple 138840528 A . Benign/Likely benign 2 9 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-14 -34.8 1.0 Benign 1 -184126 Simple 17881168 T . Benign/Likely benign 2 9 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -39.6 1.3333333333333333 Benign 1 -184127 Simple 730881969 T . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -11.100000000000001 1.5 Benign/Likely benign 1 -184128 Simple 779005784 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-27 -5.4 1.5 Likely benign 0 -184129 Simple 765643734 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-12-11 -8.100000000000001 2.0 Likely benign 0 -184130 Simple 372418435 T . Uncertain significance 2 8 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -2.37 0.5 Uncertain significance 0 -184131 Simple 17887014 A . Benign/Likely benign 2 5 Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-20 -21.6 1.4 Benign/Likely benign 0 -184132 Simple 144551668 T . Likely benign 2 6 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -17.1 1.0 Benign/Likely benign 1 -184134 Simple 768907899 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.2 Benign/Likely benign 1 -184135 Simple 200494044 A . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -17.4 1.0 Benign/Likely benign 0 -184137 Simple 201878591 T . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.5 Uncertain significance 0 -184140 Simple 56195026 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-06 -5.4 1.5 Likely benign 0 -184141 Simple 786201297 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -5.7 1.0 Likely benign 0 -184142 Simple 376144933 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -10.2 2.0 Benign/Likely benign 0 -184143 Simple 765090311 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -11.7 1.0 Benign/Likely benign 1 -184148 Simple 34916635 T . Benign/Likely benign 2 4 Gastrointestinal stromal tumor;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-08-04 -17.4 1.0 Benign/Likely benign 0 -184149 Simple 17880521 A . Benign/Likely benign 2 9 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -39.6 1.3333333333333333 Benign 1 -184151 Simple 2227953 T . Benign 2 4 Cutaneous malignant melanoma 3;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-01 -22.8 1.0 Benign/Likely benign 1 -184152 Simple 2069501 C . Benign 2 4 Cutaneous malignant melanoma 3;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-01 -22.8 1.0 Benign/Likely benign 1 -184153 Simple 768632104 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-08 -5.7 1.0 Likely benign 0 -184155 Simple 786201304 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184156 Simple 781734958 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-22 -8.4 1.0 Benign/Likely benign 1 -184157 Simple 786201306 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -184158 Simple 374152504 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-21 -5.4 2.0 Likely benign 0 -184159 Simple 370976710 T . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-02 -11.7 1.0 Benign/Likely benign 1 -184160 Simple 786201307 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184161 Simple 368348370 A . Benign/Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -13.5 1.75 Benign/Likely benign 0 -184162 Simple 758549180 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -184163 Simple 786201309 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.0 Uncertain significance 0 -184167 Simple 555635097 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-31 -5.4 1.5 Likely benign 0 -184168 Simple 368963039 A . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-01 -8.4 1.3333333333333333 Benign/Likely benign 1 -184169 Simple 769273526 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-08 -0.87 0.6666666666666666 Uncertain significance 0 -184170 Simple 752359705 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-10-31 -8.7 1.3333333333333333 Benign/Likely benign 1 -184171 Simple 28903083 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-26 -11.7 0.75 Benign/Likely benign 1 -184172 Simple 758895846 A . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -11.7 1.0 Benign/Likely benign 1 -184173 Simple 150595875 T . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -16.8 1.5 Benign/Likely benign 0 -184174 Simple 61751643 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -11.4 1.0 Benign/Likely benign 1 -184175 Simple 786201315 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184176 Simple 4986856 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -184178 Simple 751859508 T . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -11.1 1.5 Benign/Likely benign 1 -184179 Simple 72661120 C . Benign/Likely benign 2 5 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -17.4 1.0 Benign/Likely benign 0 -184180 Simple 779228375 C . Likely benign 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -18.24 1.125 Benign/Likely benign 1 -184181 Simple 768803986 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-13 -8.7 1.0 Benign/Likely benign 1 -184184 Simple 748757085 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -184185 Simple 17881980 T . Benign/Likely benign 2 9 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -39.6 1.3333333333333333 Benign 1 -184186 Simple 45505405 G . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-24 -0.84 1.3333333333333333 Uncertain significance 0 -184187 Simple 143972422 C . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -13.5 1.75 Benign/Likely benign 0 -184188 Simple 141077224 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-04 -5.4 1.5 Likely benign 0 -184189 Simple 199832006 G . Benign/Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-12 -8.4 1.5 Benign/Likely benign 0 -184191 Simple 786201323 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -184192 Simple 148738139 A . Benign/Likely benign 2 5 Gastrointestinal stromal tumor;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4;Pheochromocytoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -16.8 1.6 Benign/Likely benign 0 -184193 Simple 756708148 G . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-24 -6.0 0.5 Likely benign 0 -184194 Simple 774083607 C . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-21 -8.7 0.6666666666666666 Benign/Likely benign 1 -184196 Simple 786201327 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.3333333333333333 Benign/Likely benign 1 -184197 Simple 786201328 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.0 Benign/Likely benign 1 -184198 Simple 786201329 G . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-10 -5.1 2.5 Likely benign 0 -184201 Simple 786201332 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184202 Simple 786201333 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184204 Simple 45519437 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -18.6 2.0 Benign/Likely benign 1 -184205 Simple 786201335 T . Likely benign 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-05-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -184206 Simple 730881563 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184208 Simple 201165286 T . Benign/Likely benign 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -11.1 1.3333333333333333 Benign/Likely benign 0 -184210 Simple 766032673 T . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -8.4 1.0 Benign/Likely benign 1 -184211 Simple 376524625 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -8.4 1.0 Benign/Likely benign 1 -184212 Simple 201617644 A . Likely benign 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-04-03 -17.4 1.0 Benign/Likely benign 1 -184213 Simple 138265293 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-15 -5.4 1.5 Likely benign 0 -184214 Simple 80359811 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.0 Benign/Likely benign 1 -184215 Simple 372400428 A . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.7 0.5 Benign/Likely benign 1 -184216 Simple 375649375 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.1 1.0 Benign/Likely benign 1 -184217 Simple 786201338 G . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.1 1.6 Benign/Likely benign 1 -184218 Simple 750495335 T . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.94 1.1428571428571428 Benign/Likely benign 1 -184220 Simple 748832988 T . Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -14.7 1.0 Benign/Likely benign 1 -184222 Simple 786201342 T . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -8.7 1.0 Benign/Likely benign 1 -184223 Simple 786201343 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -184224 Simple 186802750 A . Likely benign 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -15.0 0.8 Benign/Likely benign 1 -184227 Simple 757512142 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-19 -0.5700000000000001 1.5 Uncertain significance 0 -184228 Simple 17881788 T . Benign/Likely benign 2 8 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -34.8 1.125 Benign 1 -184229 Simple 17881903 C . Benign/Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -11.4 1.3333333333333333 Benign/Likely benign 0 -184230 Simple 140423883 A . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -11.7 0.75 Benign/Likely benign 1 -184231 Simple 17886566 G . Benign/Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -11.4 1.0 Benign/Likely benign 0 -184232 Simple 755274971 G . Likely benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-03-26 -14.4 1.2 Benign/Likely benign 1 -184233 Simple 150015024 C . Benign/Likely benign 2 2 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -8.4 1.5 Benign/Likely benign 0 -184234 Simple 786201348 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -11.7 0.75 Benign/Likely benign 1 -184236 Simple 786201350 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184238 Simple 786201352 G . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-21 -8.7 1.0 Benign/Likely benign 1 -184239 Simple 764377126 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -9.0 0.6666666666666666 Benign/Likely benign 1 -184240 Simple 767064953 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-07 -8.4 1.3333333333333333 Benign/Likely benign 1 -184241 Simple 199901898 T . Likely benign 2 4 Melanoma-pancreatic cancer syndrome;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-24 -11.4 1.25 Benign/Likely benign 1 -184242 Simple 747861082 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-02-20 -11.7 1.25 Benign/Likely benign 1 -184243 Simple 45483391 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-19 -0.54 2.0 Uncertain significance 0 -184245 Simple 28897692 T . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.1 1.2 Benign/Likely benign 1 -184247 Simple 786201358 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -1.5 0.4 Uncertain significance 0 -184248 Simple 750213758 T . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -8.7 1.0 Benign/Likely benign 1 -184249 Simple 751729992 T . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-27 -8.1 1.6666666666666667 Likely benign 0 -184250 Simple 150712346 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-06-15 -5.4 1.5 Likely benign 0 -184251 Simple 537501804 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-24 -5.4 2.0 Likely benign 0 -184253 Simple 760329266 C . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -184254 Simple 149347068 C . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-26 -20.4 1.2 Benign/Likely benign 0 -184255 Simple 141152252 G . Benign/Likely benign 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-26 -25.8 1.3333333333333333 Benign 1 -184256 Simple 140279158 T . Likely benign 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -11.4 1.0 Benign/Likely benign 1 -184258 Simple 773891864 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -1.2 0.75 Uncertain significance 0 -184261 Simple 786201367 T . Pathogenic/Likely pathogenic 2 4 Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Hereditary cancer-predisposing syndrome 2017-06-08 19.5 1.5 Pathogenic 1 -184262 Simple 146691765 G . Benign/Likely benign 2 6 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -20.4 1.1666666666666667 Benign/Likely benign 0 -184263 Simple 201287021 G . Benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -16.8 1.3333333333333333 Benign/Likely benign 1 -184265 Simple 750058876 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-07 -5.7 1.5 Likely benign 0 -184266 Simple 786201370 C . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -8.4 1.3333333333333333 Benign/Likely benign 1 -184267 Simple 149490538 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-23 -5.4 1.5 Likely benign 0 -184268 Simple 768065826 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.75 Benign/Likely benign 1 -184269 Simple 773757483 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-26 -5.4 1.5 Likely benign 0 -184271 Simple 182206007 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-15 -5.7 1.0 Likely benign 0 -184272 Simple 146965678 A . Benign/Likely benign 2 4 Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -14.4 1.25 Benign/Likely benign 0 -184273 Simple 751006944 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-16 -7.800000000000001 2.3333333333333335 Likely benign 0 -184274 Simple 145126193 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-13 -5.4 1.5 Likely benign 0 -184278 Simple 140653372 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hyperactivity;Febrile seizures;Visual loss;Cafe-au-lait spot;Hereditary cancer-predisposing syndrome;Strabismus;Abnormality of vision;Abnormal electroretinogram;Abnormality of the macula;Febrile seizures;Abnormality of macular pigmentation;EEG with generalized slow activity 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -184279 Simple 368691517 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-09 -5.4 1.5 Likely benign 0 -184280 Simple 369590240 C . Benign/Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -11.4 1.3333333333333333 Benign/Likely benign 0 -184281 Simple 373973053 A . Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -11.7 0.75 Benign/Likely benign 1 -184282 Simple 786201376 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184283 Simple 786201377 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.1 1.4 Benign/Likely benign 1 -184284 Simple 756104738 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -184285 Simple 376969448 A . Likely benign 2 4 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-20 -11.1 1.5 Benign/Likely benign 1 -184286 Simple 747018506 A . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 -8.7 1.0 Benign/Likely benign 1 -184287 Simple 587780647 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -184288 Simple 771350560 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -184289 Simple 769853458 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.0 Uncertain significance 0 -184290 Simple 56353517 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-21 -8.4 1.3333333333333333 Benign/Likely benign 1 -184291 Simple 749959440 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -11.4 0.75 Benign/Likely benign 1 -184292 Simple 786201383 T . Likely benign 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-04-27 -5.4 2.0 Likely benign 0 -184295 Simple 550122918 T . Likely benign 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -12.0 0.5 Benign/Likely benign 1 -184296 Simple 786201385 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-04-27 -5.4 2.0 Likely benign 0 -184297 Simple 748698151 C . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-07 -8.4 1.3333333333333333 Benign/Likely benign 1 -184298 Simple 749203259 G . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -14.4 0.8 Benign/Likely benign 1 -184299 Simple 752541243 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-10 -0.5700000000000001 1.0 Uncertain significance 0 -184301 Simple 774929973 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.2 0.5 Uncertain significance 0 -184302 Simple 376136174 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-05 -5.4 2.0 Likely benign 0 -184303 Simple 772010158 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.25 Benign/Likely benign 1 -184304 Simple 786201392 G . Likely benign 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-08-28 -6.0 0.0 Likely benign 0 -184305 Simple 786201393 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-31 -6.0 0.5 Likely benign 0 -184306 Simple 80356834 G . Likely benign 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -11.7 1.0 Benign/Likely benign 1 -184308 Simple 267607980 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.17 0.75 Uncertain significance 0 -184309 Simple 767327888 A . Likely benign 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -14.4 1.2 Benign/Likely benign 1 -184310 Simple 786201396 T . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -9.0 0.6666666666666666 Benign/Likely benign 1 -184311 Simple 150683226 G . Benign/Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -17.1 1.2 Benign/Likely benign 0 -184312 Simple 144639596 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-03 -5.4 1.5 Likely benign 0 -184313 Simple 185087320 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-08-28 -1.17 0.75 Uncertain significance 0 -184315 Simple 765832839 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -184317 Simple 751978853 A . Benign/Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -14.100000000000001 1.25 Benign/Likely benign 0 -184318 Simple 747117261 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -184319 Simple 186274774 C . Likely benign 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -184320 Simple 138186428 T . Conflicting interpretations of pathogenicity 1 4 Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-16 -14.4 1.0 Benign/Likely benign 3 -184321 Simple 751250564 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-02 -5.4 1.5 Likely benign 0 -184322 Simple 786201402 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-15 -4.800000000000001 3.0 Likely benign 0 -184324 Simple 114861467 T . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -19.5 1.6 Benign/Likely benign 0 -184325 Simple 367782881 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-17 -8.7 1.0 Benign/Likely benign 1 -184326 Simple 786201404 T . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-03-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -184327 Simple 786201405 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.3333333333333333 Benign/Likely benign 1 -184328 Simple 372061224 C . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-03-17 -9.0 0.6666666666666666 Benign/Likely benign 1 -184329 Simple 767053295 A . Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -14.1 1.2 Benign/Likely benign 1 -184330 Simple 369518512 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-29 -11.4 1.5 Benign/Likely benign 1 -184331 Simple 748303121 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-02 -5.4 1.5 Likely benign 0 -184335 Simple 786201409 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-05-12 -6.0 1.0 Likely benign 0 -184336 Simple 28903084 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-08-01 -5.4 1.5 Likely benign 0 -184337 Simple 137886232 T . Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -11.4 1.25 Benign/Likely benign 1 -184338 Simple 45487491 A . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -14.100000000000001 1.2 Benign/Likely benign 1 -184339 Simple 786201410 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184340 Simple 144588397 G . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -184341 Simple 374620036 T . Likely benign 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -26.64 1.25 Benign 2 -184342 Simple 786201411 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -184343 Simple 745588537 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -184344 Simple 786201413 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184346 Simple 36103202 T . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -20.1 1.0 Benign/Likely benign 0 -184347 Simple 36074916 T . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -19.5 1.6 Benign/Likely benign 0 -184348 Simple 373605261 G . Uncertain significance 2 4 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-11 -1.17 1.0 Uncertain significance 0 -184349 Simple 786201415 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.25 Benign/Likely benign 1 -184350 Simple 766384913 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.4 1.0 Benign/Likely benign 1 -184351 Simple 768217700 T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -6.0 0.5 Likely benign 0 -184352 Simple 786201418 T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-06-10 -5.4 2.0 Likely benign 0 -184353 Simple 202022822 G . Benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-29 -24.57 1.7142857142857142 Benign 0 -184354 Simple 572976024 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -184355 Simple 148607710 A . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -23.37 1.1428571428571428 Benign/Likely benign 1 -184356 Simple 199590147 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -11.4 1.0 Benign/Likely benign 1 -184358 Simple 374733251 G . Uncertain significance 2 3 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -184359 Simple 370499060 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-03-03 -0.6 1.0 Uncertain significance 0 -184360 Simple 786201420 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -184361 Simple 786201421 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-02 -5.1 2.5 Likely benign 0 -184362 Simple 786201422 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184363 Simple 139648455 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-31 -5.4 1.5 Likely benign 0 -184364 Simple 147955381 T . Benign/Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -11.4 1.3333333333333333 Benign/Likely benign 0 -184365 Simple 786201423 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184367 Simple 753601570 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184368 Simple 151267865 A . Benign/Likely benign 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-09 -13.8 1.75 Benign/Likely benign 0 -184369 Simple 370537345 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -11.4 1.0 Benign/Likely benign 1 -184370 Simple 587782682 A . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -8.4 1.3333333333333333 Benign/Likely benign 1 -184371 Simple 751121403 C . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -11.7 0.75 Benign/Likely benign 1 -184372 Simple 56275308 A . Benign/Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-29 -13.8 1.5 Benign/Likely benign 0 -184373 Simple 28897678 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.7 0.8333333333333334 Benign/Likely benign 1 -184374 Simple 754597283 G . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.1 1.3333333333333333 Benign/Likely benign 1 -184375 Simple 763562818 G . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-09-08 -8.7 0.6666666666666666 Benign/Likely benign 1 -184376 Simple 779583262 T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-10 -8.4 1.3333333333333333 Benign/Likely benign 1 -184378 Simple 786201429 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.6666666666666666 Benign/Likely benign 1 -184379 Simple 786201430 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184380 Simple 762956862 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.1 1.75 Benign/Likely benign 1 -184381 Simple 148085908 T . Likely benign 2 2 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -5.4 1.5 Likely benign 0 -184383 Simple 754720030 A . Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -16.8 1.5 Benign/Likely benign 1 -184387 Simple 111266450 T . Benign/Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-03-22 -14.100000000000001 1.25 Benign/Likely benign 0 -184388 Simple 368988823 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-03 -6.0 0.5 Likely benign 0 -184389 Simple 773763465 T . Uncertain significance 2 6 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -1.77 0.5 Uncertain significance 0 -184390 Simple 758239327 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-31 -6.0 0.0 Likely benign 0 -184391 Simple 786201438 G . Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-08-11 -5.1 2.0 Likely benign 0 -184392 Simple 786201439 C . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-04 -9.0 0.3333333333333333 Benign/Likely benign 1 -184393 Simple 63750909 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-10 -9.0 0.3333333333333333 Benign/Likely benign 1 -184397 Simple 540622230 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-28 -5.1 2.5 Likely benign 0 -184398 Simple 147669627 T . Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -11.7 1.0 Benign/Likely benign 1 -184399 Simple 779394254 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-18 -8.4 1.3333333333333333 Benign/Likely benign 1 -184400 Simple 141449031 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-19 -8.4 1.5 Benign/Likely benign 0 -184402 Simple 201190540 A . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.7 0.8333333333333334 Benign/Likely benign 1 -184403 Simple 786201443 A . Likely benign 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-08 -8.7 1.3333333333333333 Benign/Likely benign 1 -184404 Simple 142243359 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184405 Simple 786201444 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -184406 Simple 753209043 A . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-08-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184407 Simple 373160367 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 0.75 Benign/Likely benign 1 -184408 Simple 80356871 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184409 Simple 201202764 C . Benign/Likely benign 2 5 Cutaneous malignant melanoma 3;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-10 -17.4 1.0 Benign/Likely benign 0 -184412 Simple 755049218 A . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.4 1.0 Benign/Likely benign 1 -184413 Simple 372876243 C . Likely benign 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -8.7 0.6666666666666666 Benign/Likely benign 1 -184414 Simple 786201448 C . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-27 -6.0 1.0 Likely benign 0 -184415 Simple 45565738 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -11.4 1.0 Benign/Likely benign 1 -184416 Simple 369576099 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -8.4 1.3333333333333333 Benign/Likely benign 1 -184417 Simple 769389702 A . Likely benign 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-03 -8.4 1.6666666666666667 Benign/Likely benign 1 -184418 Simple 199968813 T . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-16 -8.4 1.0 Benign/Likely benign 1 -184421 Simple 786201452 C . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-24 -8.4 1.3333333333333333 Benign/Likely benign 1 -184422 Simple 786201453 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184423 Simple 377308954 G . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.4 1.0 Benign/Likely benign 1 -184424 Simple 398122665 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184425 Simple 748815473 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184426 Simple 764891781 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184428 Simple 786201457 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-08 -5.7 1.0 Likely benign 0 -184430 Simple 372238373 T . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-08-22 -5.1 2.5 Likely benign 0 -184431 Simple 786201459 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184432 Simple 571645304 A . Likely benign 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-23 -11.4 1.25 Benign/Likely benign 1 -184433 Simple 786201460 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -10.5 2.25 Benign/Likely benign 1 -184434 Simple 559647198 A . Likely benign 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -11.7 1.0 Benign/Likely benign 1 -184435 Simple 754889105 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-14 -6.0 0.0 Likely benign 0 -184436 Simple 786201462 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-23 -5.1 2.0 Likely benign 0 -184438 Simple 199634245 A . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-09-22 -8.4 2.0 Benign/Likely benign 0 -184439 Simple 768735660 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -13.2 1.75 Benign/Likely benign 1 -184441 Simple 61754143 T . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-03-24 -5.4 2.0 Likely benign 0 -184444 Simple 561198849 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -184445 Simple 774277300 A . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-09-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -184447 Simple 537292657 A . Uncertain significance 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.47 0.8 Uncertain significance 0 -184449 Simple 748406142 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-15 -11.4 1.0 Benign/Likely benign 1 -184451 Simple 786201471 T . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-01 -8.1 1.6666666666666667 Likely benign 0 -184453 Simple 138987778 A . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-03 -11.1 1.75 Benign/Likely benign 1 -184454 Simple 774989816 A . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-03 -8.7 0.6666666666666666 Benign/Likely benign 1 -184455 Simple 139316519 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -11.4 1.25 Benign/Likely benign 1 -184456 Simple 35850088 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-13 -8.1 1.6666666666666667 Likely benign 0 -184458 Simple 786201475 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.1 2.0 Likely benign 0 -184461 Simple 769912677 T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-11-30 -8.1 2.0 Likely benign 0 -184463 Simple 786201478 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.3333333333333333 Benign/Likely benign 1 -184465 Simple 786201479 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184466 Simple 750705904 G . Uncertain significance 2 5 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -1.44 1.2 Uncertain significance 0 -184467 Simple 786201481 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184468 Simple 786201410 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -184469 Simple 373428259 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-05-23 12.0 0.5 Pathogenic/Likely pathogenic 1 -184474 Simple 375586273 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-10-06 -1.1400000000000001 1.0 Uncertain significance 0 -184475 Simple 786201486 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-22 -8.7 1.0 Benign/Likely benign 1 -184477 Simple 786201487 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 1.0 Benign/Likely benign 1 -184478 Simple 786201488 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-10-07 -5.7 1.5 Likely benign 0 -184479 Simple 777998890 A . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-21 -11.7 1.25 Benign/Likely benign 1 -184480 Simple 752402938 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.7 1.0 Benign/Likely benign 1 -184483 Simple 397507374 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -184484 Simple 786201493 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184485 Simple 753199796 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-10-16 -0.6 0.5 Uncertain significance 0 -184487 Simple 774144789 T . Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-07-18 -5.7 1.0 Likely benign 0 -184488 Simple 751346548 T . Likely benign 2 4 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-10 -11.7 1.0 Benign/Likely benign 1 -184489 Simple 143489373 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -184490 Simple 786201498 T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-08-21 -8.4 1.0 Benign/Likely benign 1 -184491 Simple 138735345 T . Likely benign 2 5 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-24 -14.1 1.2 Benign/Likely benign 1 -184493 Simple 748949478 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-18 -8.4 1.6666666666666667 Benign/Likely benign 1 -184496 Simple 200810304 A . Likely benign 2 5 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -13.8 1.6 Benign/Likely benign 1 -184497 Simple 111673299 A . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-15 -10.8 1.6666666666666667 Benign/Likely benign 0 -184499 Simple 140782158 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.8333333333333334 Benign/Likely benign 1 -184500 Simple 786201502 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -184501 Simple 55746541 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184502 Simple 748631472 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -18.0 0.6666666666666666 Benign/Likely benign 1 -184503 Simple 786201504 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-03 -5.7 1.0 Likely benign 0 -184504 Simple 786201505 T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-03-17 -5.4 2.0 Likely benign 0 -184505 Simple 786201506 A . Likely benign 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-02-27 -8.1 2.0 Likely benign 0 -184506 Simple 786201507 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-01-24 -0.87 1.3333333333333333 Uncertain significance 0 -184507 Simple 786201508 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -8.4 1.0 Benign/Likely benign 1 -184509 Simple 786201510 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-07 -5.4 2.0 Likely benign 0 -184511 Simple 786201512 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184512 Simple 201536070 A . Likely benign 3 8 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -22.8 1.25 Benign/Likely benign 1 -184513 Simple 786201513 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184514 Simple 779498845 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -184515 Simple 786201515 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184516 Simple 368661707 A . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -8.4 1.3333333333333333 Benign/Likely benign 1 -184517 Simple 786201516 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -184518 Simple 201486221 A . Likely benign 2 5 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-08-18 -15.0 0.6 Benign/Likely benign 1 -184519 Simple 786201517 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.5 Benign/Likely benign 1 -184520 Simple 368752746 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-20 -5.4 1.5 Likely benign 0 -184521 Simple 547090599 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-13 -5.4 1.5 Likely benign 0 -184523 Simple 369458366 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-01 -5.4 1.5 Likely benign 0 -184525 Simple 374770981 G . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-28 -13.8 1.5 Benign/Likely benign 0 -184526 Simple 786201519 A . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.0 Benign/Likely benign 1 -184527 Simple 786201520 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184528 Simple 143070291 G . Benign/Likely benign 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -16.5 1.4 Benign/Likely benign 0 -184529 Simple 140352085 T . Benign/Likely benign 2 6 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-26 -20.1 1.1666666666666667 Benign/Likely benign 0 -184531 Simple 190489275 C . Likely benign 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-21 -11.7 1.0 Benign/Likely benign 1 -184532 Simple 201044568 C . Benign/Likely benign 2 7 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome 2016-06-15 -25.8 1.2857142857142858 Benign 1 -184535 Simple 752875511 C . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -14.1 1.2 Benign/Likely benign 0 -184536 Simple 751572082 A . Uncertain significance 2 5 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-03 -1.5 0.8 Uncertain significance 0 -184537 Simple 201576838 A . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-24 -5.4 1.5 Likely benign 0 -184539 Simple 756211343 G . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.4 Benign/Likely benign 1 -184541 Simple 755890067 C . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -23.7 0.6666666666666666 Benign/Likely benign 1 -184544 Simple 370709772 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2015-10-21 -5.4 2.0 Likely benign 0 -184545 Simple 201176051 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -9.0 0.3333333333333333 Benign/Likely benign 1 -184546 Simple 786201527 C . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-23 -11.4 1.5 Benign/Likely benign 1 -184549 Simple 770531115 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.2 Benign/Likely benign 1 -184550 Simple 786201531 TT . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-09-11 12.0 0.0 Pathogenic/Likely pathogenic 1 -184551 Simple 368678134 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-22 -8.7 1.3333333333333333 Benign/Likely benign 1 -184552 Simple 587781812 C . Uncertain significance 2 5 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -1.5 0.4 Uncertain significance 0 -184553 Simple 374326934 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.4 1.2 Benign/Likely benign 1 -184554 Simple 773577455 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-15 -5.4 2.0 Likely benign 0 -184558 Simple 376667778 T . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-11 -8.7 1.0 Benign/Likely benign 1 -184559 Simple 758258272 A . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -11.1 1.5 Benign/Likely benign 1 -184560 Simple 777369021 C . Benign/Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-03 -8.4 1.5 Benign/Likely benign 0 -184561 Simple 769607309 A . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -8.4 1.3333333333333333 Benign/Likely benign 1 -184563 Simple 368150874 C . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-09-14 -0.6 0.0 Uncertain significance 0 -184564 Simple 759922342 C . Uncertain significance 2 4 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-04-25 -1.14 1.25 Uncertain significance 0 -184565 Simple 138060491 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-31 -5.4 1.5 Likely benign 0 -184566 Simple 143796254 T . Benign/Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -13.8 1.5 Benign/Likely benign 0 -184567 Simple 786201540 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.8 Benign/Likely benign 1 -184568 Simple 148381232 A . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-06 -5.4 1.5 Likely benign 0 -184569 Simple 786201541 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-12-07 -5.4 2.0 Likely benign 0 -184570 Simple 199971078 A . Benign/Likely benign 2 3 Fumarase deficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -11.4 1.0 Benign/Likely benign 0 -184572 Simple 786201543 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -5.1 2.0 Likely benign 0 -184574 Simple 760109939 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -184575 Simple 371601956 G . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-05 -8.4 1.3333333333333333 Benign/Likely benign 1 -184576 Simple 786201546 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184577 Simple 761852331 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-25 -5.1 2.5 Likely benign 0 -184578 Simple 786201548 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.3333333333333333 Benign/Likely benign 1 -184579 Simple 776638534 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -184580 Simple 150209825 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.2 0.25 Uncertain significance 0 -184581 Simple 376402418 A . Likely benign 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-08-14 -8.1 1.6666666666666667 Likely benign 0 -184584 Simple 786201551 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -184585 Simple 775742850 C . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-29 -5.1 2.0 Likely benign 0 -184586 Simple 770579741 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-27 -5.1 2.5 Likely benign 0 -184587 Simple 781549970 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-27 -5.7 1.0 Likely benign 0 -184589 Simple 138643096 G . Likely benign 2 5 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -14.1 1.0 Benign/Likely benign 1 -184590 Simple 199887605 A . Likely benign 2 1 not specified;Hereditary cancer-predisposing syndrome 2014-12-19 . 3.0 . 0 -184591 Simple 771746264 T . Uncertain significance 2 3 Gastrointestinal stromal tumor;Pheochromocytoma;Paragangliomas 3;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -184592 Simple 786201557 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-10 -5.1 2.0 Likely benign 0 -184593 Simple 778093337 T . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-08-12 -0.6 0.0 Uncertain significance 0 -184595 Simple 368243190 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-10 -6.0 0.5 Likely benign 0 -184596 Simple 769558291 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.5 Uncertain significance 0 -184598 Simple 786201560 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.84 1.3333333333333333 Uncertain significance 0 -184600 Simple 786201561 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184601 Simple 769482880 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-25 -1.2 0.25 Uncertain significance 0 -184605 Simple 786201566 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -184606 Simple 369097329 C . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -9.0 0.6666666666666666 Benign/Likely benign 1 -184607 Simple 757325185 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-25 -9.0 0.0 Benign/Likely benign 0 -184608 Simple 536686679 G . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-11-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -184610 Simple 148371113 A . Benign/Likely benign 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-08-04 -14.4 1.25 Benign/Likely benign 0 -184611 Simple 754004520 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184612 Simple 770842236 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184613 Simple 367986994 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-13 -5.7 1.5 Likely benign 0 -184614 Simple 753839004 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -9.0 0.6666666666666666 Benign/Likely benign 1 -184616 Simple 61754117 C . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -16.8 1.5 Benign/Likely benign 0 -184617 Simple 786201573 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-15 -5.4 1.5 Likely benign 0 -184618 Simple 150348197 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-26 -5.7 1.0 Likely benign 0 -184619 Simple 199889477 T . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-05-23 -0.5700000000000001 1.0 Uncertain significance 0 -184620 Simple 777488349 T . Likely benign 3 6 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -19.2 2.0 Benign/Likely benign 1 -184621 Simple 147701251 T . Benign/Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-27 -16.5 1.6 Benign/Likely benign 0 -184623 Simple 762499878 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -184624 Simple 35187787 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -1.2 0.75 Uncertain significance 0 -184625 Simple 786201577 A . Likely benign 2 5 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -15.0 0.4 Benign/Likely benign 1 -184626 Simple 778401681 G . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -24.0 0.7142857142857143 Benign 2 -184628 Simple 763057312 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 -11.4 1.25 Benign/Likely benign 1 -184629 Simple 746703615 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -1.2 0.5 Uncertain significance 0 -184630 Simple 786201581 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184631 Simple 786201582 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -184632 Simple 786201583 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184634 Simple 377412651 T . Benign/Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -13.8 1.5 Benign/Likely benign 0 -184635 Simple 753570046 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -8.4 1.3333333333333333 Benign/Likely benign 1 -184636 Simple 200635661 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.25 Benign/Likely benign 1 -184637 Simple 786201586 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -11.7 0.75 Benign/Likely benign 1 -184638 Simple 142134504 T . Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -11.4 1.25 Benign/Likely benign 1 -184639 Simple 45499391 T . Benign/Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-12 -8.4 1.5 Benign/Likely benign 0 -184640 Simple 786201587 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184641 Simple 763361384 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-27 -8.1 1.6666666666666667 Likely benign 0 -184642 Simple 777755159 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-24 -5.4 1.5 Likely benign 0 -184643 Simple 147522129 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-11 -5.4 1.5 Likely benign 0 -184646 Simple 768058962 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -1.2 0.5 Uncertain significance 0 -184647 Simple 786201592 T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-01-29 -0.54 2.0 Uncertain significance 0 -184648 Simple 786201593 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.8 1.8 Benign/Likely benign 1 -184649 Simple 45586033 A . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.4 Benign/Likely benign 1 -184650 Simple 367560109 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-02 -5.4 2.0 Likely benign 0 -184651 Simple 556110297 A . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -1.5 0.4 Uncertain significance 0 -184652 Simple 556762256 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -17.7 1.0 Benign/Likely benign 1 -184653 Simple 786201594 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184658 Simple 786201598 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-02-14 -5.4 2.0 Likely benign 0 -184659 Simple 786201599 T . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -8.4 1.3333333333333333 Benign/Likely benign 1 -184660 Simple 764351040 T . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-11-01 -6.0 1.0 Likely benign 0 -184662 Simple 746694709 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-28 -5.4 1.5 Likely benign 0 -184663 Simple 773903575 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-03-16 -5.1 2.0 Likely benign 0 -184664 Simple 749091984 T . Uncertain significance 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 -0.84 1.3333333333333333 Uncertain significance 0 -184665 Simple 532235331 T . Benign/Likely benign 2 7 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-15 -31.5 1.2857142857142858 Benign 1 -184666 Simple 587779242 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -8.7 1.0 Benign/Likely benign 1 -184667 Simple 786201605 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184668 Simple 2229997 T . Likely benign 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-23 -11.4 1.25 Benign/Likely benign 1 -184669 Simple 786201606 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-17 -9.0 0.3333333333333333 Benign/Likely benign 1 -184672 Simple 140079790 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-28 -5.4 1.5 Likely benign 0 -184673 Simple 540252208 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-18 -8.7 1.0 Benign/Likely benign 1 -184674 Simple 786201608 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-28 -0.5700000000000001 1.5 Uncertain significance 0 -184676 Simple 767758092 C . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -8.7 1.0 Benign/Likely benign 1 -184681 Simple 777890524 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-12-11 -5.4 2.0 Likely benign 0 -184682 Simple 786201615 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-11 -5.7 1.0 Likely benign 0 -184683 Simple 748417604 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-31 -1.2 0.25 Uncertain significance 0 -184684 Simple 753509749 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-24 -5.4 1.5 Likely benign 0 -184685 Simple 786201618 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184686 Simple 375911315 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -8.1 2.0 Likely benign 0 -184687 Simple 786201619 A . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-02-06 -11.7 1.25 Benign/Likely benign 1 -184688 Simple 375799148 C . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-17 -0.84 1.6666666666666667 Uncertain significance 0 -184689 Simple 786201620 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -184690 Simple 786201621 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.1 1.6 Benign/Likely benign 1 -184692 Simple 771632414 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -1.17 1.0 Uncertain significance 0 -184693 Simple 786201623 A . Benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 1.0 Benign/Likely benign 1 -184694 Simple 786201624 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184695 Simple 781435355 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.1 1.6 Benign/Likely benign 1 -184697 Simple 559190752 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.1 1.3333333333333333 Benign/Likely benign 1 -184698 Simple 786201627 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184699 Simple 757135168 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-04-24 -5.4 2.0 Likely benign 0 -184700 Simple 786201629 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-03 -5.7 1.0 Likely benign 0 -184701 Simple 63750138 A . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -12.0 0.3333333333333333 Benign/Likely benign 0 -184702 Simple 145945630 T . Pathogenic/Likely pathogenic 2 6 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-08-04 31.8 1.0 Pathogenic 1 -184704 Simple 184408918 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.5 Benign/Likely benign 1 -184705 Simple 786201631 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184706 Simple 786201632 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-10-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -184707 Simple 775018971 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-29 -5.7 1.5 Likely benign 0 -184710 Simple 140994965 T . Benign/Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -11.4 1.0 Benign/Likely benign 0 -184711 Simple 144808600 A . Benign/Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-31 -8.4 1.5 Benign/Likely benign 0 -184713 Simple 766257141 T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -8.1 1.6666666666666667 Likely benign 0 -184714 Simple 759021562 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -11.7 1.0 Benign/Likely benign 1 -184717 Simple 757544615 T . Benign/Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -13.5 1.75 Benign/Likely benign 0 -184718 Simple 786201640 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184719 Simple 772864909 T . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-04-10 -8.7 1.0 Benign/Likely benign 1 -184720 Simple 575896144 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-16 -8.7 1.0 Benign/Likely benign 1 -184721 Simple 372397095 T . Likely benign 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 -8.4 1.3333333333333333 Benign/Likely benign 1 -184726 Simple 372377916 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -184728 Simple 786201646 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.25 Benign/Likely benign 1 -184729 Simple 786201647 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -184730 Simple 786201648 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -184731 Simple 190031653 T . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-06-10 -8.4 2.0 Benign/Likely benign 0 -184732 Simple 371682489 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184733 Simple 786201649 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184735 Simple 786201651 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-06-01 -5.1 2.5 Likely benign 0 -184737 Simple 786201652 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-13 -6.0 1.0 Likely benign 0 -184739 Simple 786201654 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-01 -0.6 0.0 Uncertain significance 0 -184741 Simple 17174393 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -184742 Simple 757025193 A . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -11.4 1.25 Benign/Likely benign 1 -184745 Simple 769934890 A . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -1.2 0.75 Uncertain significance 0 -184746 Simple 535056715 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-26 -5.4 2.0 Likely benign 0 -184747 Simple 201172050 G . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.97 1.0 Benign/Likely benign 1 -184748 Simple 786201660 A . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -8.4 1.3333333333333333 Benign/Likely benign 1 -184749 Simple 747315554 G . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.2 0.25 Uncertain significance 0 -184750 Simple 772250365 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.0 Uncertain significance 0 -184751 Simple 751176316 T . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -16.5 1.4 Benign/Likely benign 0 -184754 Simple 786201666 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-05-24 -0.5700000000000001 1.5 Uncertain significance 0 -184756 Simple 369075403 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.2 0.25 Uncertain significance 0 -184757 Simple 759855937 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -184759 Simple 786201670 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-26 -0.54 2.0 Uncertain significance 0 -184760 Simple 753680691 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-09-01 -0.6 1.0 Uncertain significance 0 -184762 Simple 773467465 A . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -7.8 2.0 Likely benign 0 -184764 Simple 786201675 - . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-04 20.7 0.5 Pathogenic 1 -184765 Simple 786201676 G . Uncertain significance 2 2 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome 2017-10-10 -0.6 0.5 Uncertain significance 0 -184766 Simple 372460369 C . Uncertain significance 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -0.87 1.0 Uncertain significance 0 -184767 Simple 41459448 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-19 -5.4 1.5 Likely benign 0 -184768 Simple 139507276 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -14.1 1.5 Benign/Likely benign 0 -184769 Simple 786201677 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184771 Simple 755731300 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -184773 Simple 786201681 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -184774 Simple 766080516 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -184775 Simple 554040246 C . Benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-29 -20.669999999999998 1.5 Benign/Likely benign 1 -184776 Simple 776992904 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -184783 Simple 765969190 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-16 -5.7 1.5 Likely benign 0 -184786 Simple 745379285 A . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -11.1 1.25 Benign/Likely benign 1 -184787 Simple 786201693 G . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-22 16.8 1.0 Pathogenic 0 -184788 Simple 754289472 A . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-04-26 -8.1 2.0 Likely benign 0 -184790 Simple 751398082 T . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -184792 Simple 786201698 A . Uncertain significance 2 3 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-06-21 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -184794 Simple 376799914 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-06 -0.8999999999999999 1.0 Uncertain significance 0 -184800 Simple 786201704 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184801 Simple 755571454 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -184802 Simple 375575311 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-21 -5.7 1.0 Likely benign 0 -184803 Simple 369568820 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-19 -0.8999999999999999 0.0 Uncertain significance 0 -184805 Simple 200240170 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-15 -5.7 1.0 Likely benign 0 -184806 Simple 45566938 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-06 -5.4 2.0 Likely benign 0 -184808 Simple 587781787 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-30 -5.4 2.0 Likely benign 0 -184809 Simple 574552037 A . Benign/Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-11 -11.4 1.3333333333333333 Benign/Likely benign 0 -184810 Simple 767747378 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-30 -0.6 0.5 Uncertain significance 0 -184811 Simple 786201708 G . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-23 -8.4 1.3333333333333333 Benign/Likely benign 1 -184812 Simple 786201709 T . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -12.0 0.75 Benign/Likely benign 1 -184813 Simple 786201710 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184815 Simple 146448657 C . Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -11.1 1.5 Benign/Likely benign 1 -184818 Simple 549058591 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -184820 Simple 761533286 A . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -13.8 1.4 Benign/Likely benign 1 -184826 Simple 142072914 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -184827 Simple 758505680 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.3333333333333333 Likely benign 0 -184828 Simple 41293445 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-26 -0.8999999999999999 1.0 Uncertain significance 0 -184831 Simple 370412074 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.5700000000000001 1.0 Uncertain significance 0 -184832 Simple 786201722 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184833 Simple 781652274 C . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-10-12 -9.0 0.6666666666666666 Benign/Likely benign 1 -184834 Simple 786201724 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.5 Uncertain significance 0 -184835 Simple 781026376 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.0 Uncertain significance 0 -184836 Simple 201057885 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -184837 Simple 59912467 T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 -9.0 0.6666666666666666 Benign/Likely benign 1 -184839 Simple 201741778 T . Benign/Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-04 -14.4 1.0 Benign/Likely benign 0 -184840 Simple 775032066 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -184841 Simple 80359548 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -184842 Simple 786201728 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -184843 Simple 771765869 T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-09-25 -8.4 1.3333333333333333 Benign/Likely benign 1 -184845 Simple 786201731 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-18 -5.7 1.0 Likely benign 0 -184846 Simple 746061888 C . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -8.7 1.0 Benign/Likely benign 1 -184852 Simple 779895958 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184853 Simple 786201739 G . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-17 -5.4 1.5 Likely benign 0 -184854 Simple 150734856 A . Benign/Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -17.1 1.0 Benign/Likely benign 0 -184855 Simple 786201740 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184856 Simple 786201741 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -184857 Simple 201181517 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-20 -5.4 1.5 Likely benign 0 -184858 Simple 368291318 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-16 -8.1 1.6666666666666667 Likely benign 0 -184859 Simple 786201742 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184862 Simple 786201745 A . Pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-12-21 10.8 2.0 Pathogenic/Likely pathogenic 1 -184864 Simple 769610487 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-11 -0.5700000000000001 1.5 Uncertain significance 0 -184867 Simple 777028631 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184868 Simple 765545887 C . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-11-25 -11.4 1.5 Benign/Likely benign 1 -184869 Simple 370553043 G . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -14.4 0.8 Benign/Likely benign 1 -184873 Simple 749629973 T . Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -11.4 1.25 Benign/Likely benign 1 -184874 Simple 753651115 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -184875 Simple 144792613 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-13 -0.87 1.3333333333333333 Uncertain significance 0 -184876 Simple 746099644 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.2 Benign/Likely benign 1 -184877 Simple 113507014 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -184878 Simple 786201758 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-17 -0.51 2.5 Uncertain significance 0 -184879 Simple 750586158 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-06-27 12.0 0.0 Pathogenic/Likely pathogenic 1 -184880 Simple 786201760 A . Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-16 -14.4 1.2 Benign/Likely benign 1 -184881 Simple 748210094 C . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -11.7 0.75 Benign/Likely benign 1 -184883 Simple 755369095 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-23 -0.54 1.5 Uncertain significance 0 -184885 Simple 376648463 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-04-21 -5.4 1.5 Likely benign 0 -184888 Simple 201536070 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184889 Simple 786201766 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-04 -5.7 1.0 Likely benign 0 -184890 Simple 786201767 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-27 -5.7 1.0 Likely benign 0 -184891 Simple 786201768 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-01-01 -0.51 2.5 Uncertain significance 0 -184893 Simple 786201770 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -184895 Simple 774759899 A . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -5.4 1.5 Likely benign 0 -184896 Simple 786201772 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-03-07 -0.5700000000000001 1.5 Uncertain significance 0 -184899 Simple 143802516 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-30 -0.6 0.0 Uncertain significance 0 -184901 Simple 786201776 GGGCCCGGGCCC . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -184906 Simple 780052789 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-05-08 -0.54 1.5 Uncertain significance 0 -184907 Simple 201810397 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-03 -5.7 1.0 Likely benign 0 -184910 Simple 80359198 T . Likely benign 3 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-29 -17.97 1.2857142857142858 Benign/Likely benign 1 -184911 Simple 786201783 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184912 Simple 786201784 T . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.209999999999999 1.8 Benign/Likely benign 1 -184914 Simple 749949219 T . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -8.1 1.6666666666666667 Likely benign 0 -184915 Simple 776633437 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -11.4 1.0 Benign/Likely benign 1 -184916 Simple 786201788 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-15 -0.54 2.0 Uncertain significance 0 -184917 Simple 786201789 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-07-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -184919 Simple 747122703 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-09 -5.1 2.5 Likely benign 0 -184922 Simple 142322668 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -1.2 0.5 Uncertain significance 0 -184924 Simple 374730714 T . Uncertain significance 2 5 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -1.5 0.8 Uncertain significance 0 -184925 Simple 786201795 A . Uncertain significance 1 1 Hereditary cancer-predisposing syndrome 2014-05-01 . 3.0 . 0 -184926 Simple 786201796 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-09-07 -8.1 2.0 Likely benign 0 -184928 Simple 745646057 G . Uncertain significance 2 4 Familial cancer of breast;Breast and colorectal cancer, susceptibility to;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.1400000000000001 1.0 Uncertain significance 0 -184929 Simple 786201798 A . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.5 Uncertain significance 0 -184930 Simple 141351035 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -184933 Simple 587782604 A . Pathogenic/Likely pathogenic 2 3 Paragangliomas 4;not provided;Hereditary cancer-predisposing syndrome 2017-08-23 12.0 0.3333333333333333 Pathogenic/Likely pathogenic 0 -184935 Simple 147718169 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-28 -0.6 0.5 Uncertain significance 0 -184936 Simple 786201802 A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome 2017-09-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -184937 Simple 775126020 T . Pathogenic 2 5 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-06-02 27.6 1.4 Pathogenic 0 -184941 Simple 786201806 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -0.6 0.0 Uncertain significance 0 -184946 Simple 786201810 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -184948 Simple 145794301 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-19 -0.5700000000000001 1.0 Uncertain significance 0 -184949 Simple 56096120 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-11-08 -0.81 1.6666666666666667 Uncertain significance 0 -184950 Simple 758764445 A . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -1.47 0.8 Uncertain significance 0 -184951 Simple 772960140 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184953 Simple 749471737 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.2 0.5 Uncertain significance 0 -184954 Simple 786201816 T . Likely benign 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -5.4 1.5 Likely benign 0 -184956 Simple 786201818 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-10-12 -5.4 2.0 Likely benign 0 -184957 Simple 199895166 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.0 Uncertain significance 0 -184958 Simple 786201819 G . Uncertain significance 2 4 Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -1.17 1.0 Uncertain significance 0 -184959 Simple 765841113 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-05-26 -5.4 2.0 Likely benign 0 -184962 Simple 786201823 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-15 -0.5700000000000001 1.0 Uncertain significance 0 -184964 Simple 766047812 C . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-13 -8.7 1.3333333333333333 Benign/Likely benign 1 -184965 Simple 780182847 A . Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -11.7 1.0 Benign/Likely benign 1 -184966 Simple 765759912 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.0 Uncertain significance 0 -184968 Simple 745578572 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-06 -0.6 0.5 Uncertain significance 0 -184969 Simple 786201830 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -8.4 1.0 Benign/Likely benign 1 -184975 Simple 368494571 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -11.4 1.0 Benign/Likely benign 1 -184976 Simple 748170941 T . Pathogenic/Likely pathogenic 2 6 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-06-14 31.2 1.1666666666666667 Pathogenic 1 -184977 Simple 81002826 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -184980 Simple 786201839 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -184981 Simple 730881501 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-27 -0.84 1.0 Uncertain significance 0 -184982 Simple 145513717 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -0.8999999999999999 1.0 Uncertain significance 0 -184984 Simple 786201841 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-08-22 -0.84 1.3333333333333333 Uncertain significance 0 -184985 Simple 786201842 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-22 -5.4 2.0 Likely benign 0 -184986 Simple 786201843 T . Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-08 -11.4 1.25 Benign/Likely benign 1 -184987 Simple 786201844 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-27 -0.54 1.5 Uncertain significance 0 -184988 Simple 779297339 G . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-08-01 -1.5 0.2 Uncertain significance 0 -184989 Simple 786201846 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-27 -5.7 1.5 Likely benign 0 -184990 Simple 764870249 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -184991 Simple 786201848 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-09-26 -0.8999999999999999 0.0 Uncertain significance 0 -184994 Simple 756883400 C . Uncertain significance 2 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -184995 Simple 786201852 G . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-05-22 -5.4 2.0 Likely benign 0 -184997 Simple 746649823 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -184998 Simple 786201855 ATCAATCA . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-09 17.4 0.6666666666666666 Pathogenic 1 -184999 Simple 786201856 T . Pathogenic 2 4 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-03-09 21.6 1.75 Pathogenic 0 -185001 Simple 786201858 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185002 Simple 786201859 T . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-02-16 -5.4 2.0 Likely benign 0 -185004 Simple 80356838 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -185006 Simple 779306532 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -0.5700000000000001 1.0 Uncertain significance 0 -185008 Simple 774162322 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-29 -1.2 0.25 Uncertain significance 0 -185009 Simple 149924365 G . Benign/Likely benign 2 4 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-08 -16.2 1.5 Benign/Likely benign 0 -185010 Simple 760146707 - . Pathogenic/Likely pathogenic 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-06-27 13.8 1.3333333333333333 Pathogenic/Likely pathogenic 0 -185011 Simple 786201865 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-20 -0.54 2.0 Uncertain significance 0 -185012 Simple 1800061 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185013 Simple 786201866 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-21 -0.54 2.0 Uncertain significance 0 -185017 Simple 749230730 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-21 -1.2 1.0 Uncertain significance 0 -185019 Simple 757452107 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185021 Simple 786201874 - . Pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-02-17 17.4 1.3333333333333333 Pathogenic 0 -185022 Simple 121913322 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -185026 Simple 142301194 C . Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-07-03 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -185027 Simple 63750226 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185028 Simple 786201878 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-01 -0.8999999999999999 0.0 Uncertain significance 0 -185029 Simple 762151417 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -0.6 0.5 Uncertain significance 0 -185030 Simple 113726095 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-19 -11.7 1.0 Benign/Likely benign 1 -185031 Simple 147472613 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.2 0.0 Uncertain significance 0 -185032 Simple 375515606 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.2 0.0 Uncertain significance 0 -185034 Simple 786201881 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -8.7 1.0 Benign/Likely benign 1 -185036 Simple 374357106 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -1.2 0.25 Uncertain significance 0 -185037 Simple 767458044 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-22 -0.5700000000000001 1.5 Uncertain significance 0 -185039 Simple 763596413 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.2 0.5 Uncertain significance 0 -185040 Simple 147738621 G . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -10.8 2.0 Benign/Likely benign 0 -185041 Simple 786201885 A . Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-16 -17.1 1.1666666666666667 Benign/Likely benign 1 -185042 Simple 786201886 CA . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-20 16.8 1.3333333333333333 Pathogenic 0 -185043 Simple 786201887 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185044 Simple 786201888 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-06-21 -0.5700000000000001 1.5 Uncertain significance 0 -185045 Simple 755890067 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -185046 Simple 372002119 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.0 Benign/Likely benign 1 -185047 Simple 370723514 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -185048 Simple 750621215 A . Likely pathogenic 2 3 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-09-01 8.7 0.6666666666666666 Pathogenic/Likely pathogenic 1 -185051 Simple 200018296 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-02-13 -0.8999999999999999 1.0 Uncertain significance 0 -185055 Simple 185493105 G . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-17 -0.8999999999999999 0.0 Uncertain significance 0 -185058 Simple 786201897 AA . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-06-07 10.8 1.5 Pathogenic/Likely pathogenic 1 -185059 Simple 760885994 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-03-21 -6.0 0.0 Likely benign 0 -185060 Simple 755122577 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-17 -0.54 1.5 Uncertain significance 0 -185061 Simple 397507213 C . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-13 -1.1400000000000001 1.5 Uncertain significance 0 -185063 Simple 755086348 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -185066 Simple 786201904 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-14 -8.4 1.0 Benign/Likely benign 1 -185067 Simple 786201905 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185069 Simple 786201907 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185070 Simple 144288981 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-11-06 -5.1 2.5 Likely benign 0 -185071 Simple 545020313 T . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-09 -11.1 1.5 Benign/Likely benign 1 -185073 Simple 760436864 G . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-03-30 -0.5700000000000001 1.0 Uncertain significance 0 -185074 Simple 786201909 G . Pathogenic 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-06-21 11.4 1.0 Pathogenic/Likely pathogenic 1 -185076 Simple 375754332 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185077 Simple 138996609 A . Pathogenic 2 3 Paragangliomas 4;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-10-05 16.8 1.0 Pathogenic 0 -185079 Simple 786201912 A . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-29 12.0 0.5 Pathogenic/Likely pathogenic 1 -185080 Simple 786201913 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-09-29 -5.4 2.0 Likely benign 0 -185082 Simple 772295894 A . Pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-07 17.4 0.6666666666666666 Pathogenic 0 -185083 Simple 3218708 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-15 -0.6 0.0 Uncertain significance 0 -185087 Simple 779475182 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-14 -5.4 1.5 Likely benign 0 -185088 Simple 786201919 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -185089 Simple 770406711 A . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-17 -1.44 1.2 Uncertain significance 0 -185090 Simple 763162379 C . Uncertain significance 2 4 Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.2 0.75 Uncertain significance 0 -185093 Simple 377384463 A . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-22 -8.4 1.6666666666666667 Benign/Likely benign 1 -185096 Simple 140523180 G . Benign/Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-04 -8.4 1.0 Benign/Likely benign 0 -185097 Simple 748005072 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-04-11 14.4 1.0 Pathogenic/Likely pathogenic 0 -185098 Simple 145988146 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.25 Benign/Likely benign 1 -185099 Simple 786201926 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-25 -6.0 1.0 Likely benign 0 -185100 Simple 755578413 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -8.4 1.3333333333333333 Benign/Likely benign 1 -185103 Simple 746346292 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -1.17 1.0 Uncertain significance 0 -185108 Simple 200048921 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -1.5 0.4 Uncertain significance 0 -185109 Simple 202241429 A . Uncertain significance 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185112 Simple 755215407 T . Benign/Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -10.8 1.6666666666666667 Benign/Likely benign 0 -185116 Simple 786201939 - . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-04-10 -0.6 0.5 Uncertain significance 0 -185119 Simple 28897704 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.3333333333333333 Benign/Likely benign 1 -185120 Simple 1042522 T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-06-05 -0.6 1.0 Uncertain significance 0 -185121 Simple 786201942 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -185125 Simple 786201946 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -185126 Simple 146514381 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -185128 Simple 786201948 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185130 Simple 786201950 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -185131 Simple 786201951 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-02-06 -0.51 2.5 Uncertain significance 0 -185135 Simple 775823407 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-03 -5.4 2.0 Likely benign 0 -185136 Simple 786201956 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 -0.54 1.5 Uncertain significance 0 -185137 Simple 786201957 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 10.8 1.5 Pathogenic/Likely pathogenic 1 -185138 Simple 568912602 T . Likely benign 2 7 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -20.1 1.1428571428571428 Benign/Likely benign 1 -185139 Simple 758972589 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-28 18.0 0.3333333333333333 Pathogenic 0 -185140 Simple 757892928 T . Uncertain significance 2 4 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-04 -1.1400000000000001 1.25 Uncertain significance 0 -185142 Simple 28903089 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-08 -0.6 0.0 Uncertain significance 0 -185147 Simple 372705975 A . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -11.4 1.0 Benign/Likely benign 1 -185150 Simple 786201963 C . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -8.4 1.3333333333333333 Benign/Likely benign 1 -185151 Simple 786201964 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185152 Simple 786201965 G . Pathogenic/Likely pathogenic 2 3 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-01-17 11.100000000000001 1.6666666666666667 Pathogenic/Likely pathogenic 0 -185153 Simple 1800701 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -185154 Simple 771044689 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-01 -1.2 0.25 Uncertain significance 0 -185155 Simple 764123241 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-03 -0.5700000000000001 1.5 Uncertain significance 0 -185156 Simple 145236132 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -11.1 1.25 Benign/Likely benign 1 -185159 Simple 774774596 C . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185161 Simple 757492041 A . Uncertain significance 2 3 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-06-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185165 Simple 768555161 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185167 Simple 376670250 C . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-06-28 -6.0 0.5 Likely benign 0 -185169 Simple 762625437 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-05-01 -0.54 1.5 Uncertain significance 0 -185171 Simple 764564211 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-15 -0.6 0.5 Uncertain significance 0 -185173 Simple 764848326 G . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -12.0 0.5 Benign/Likely benign 1 -185174 Simple 192236678 T . Benign/Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -15.0 0.0 Benign/Likely benign 0 -185175 Simple 786201982 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -185176 Simple 774175654 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-13 13.8 1.3333333333333333 Pathogenic/Likely pathogenic 0 -185177 Simple 751053826 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -185180 Simple 786201986 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -185181 Simple 80358494 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -0.8999999999999999 0.0 Uncertain significance 0 -185183 Simple 56335406 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-30 -0.5700000000000001 1.5 Uncertain significance 0 -185184 Simple 754339271 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-02 -0.8999999999999999 1.0 Uncertain significance 0 -185188 Simple 786201989 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-26 -6.0 1.0 Likely benign 0 -185189 Simple 564408927 T . Uncertain significance 2 4 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -1.2 0.75 Uncertain significance 0 -185192 Simple 758309022 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185193 Simple 141582813 A . Conflicting interpretations of pathogenicity 1 4 Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-07-31 3.9299999999999997 1.5 Uncertain significance 0 -185194 Simple 553474397 A . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-28 -8.4 1.0 Benign/Likely benign 1 -185196 Simple 786201992 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.17 0.5 Uncertain significance 0 -185197 Simple 150636811 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.87 1.0 Uncertain significance 0 -185198 Simple 746675755 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2015-10-05 -5.1 2.5 Likely benign 0 -185199 Simple 779860140 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-28 -0.5700000000000001 1.0 Uncertain significance 0 -185201 Simple 786201996 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -1.1400000000000001 1.25 Uncertain significance 0 -185202 Simple 80357042 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-29 -0.5700000000000001 1.5 Uncertain significance 0 -185204 Simple 763292288 C . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-28 -1.47 0.6 Uncertain significance 0 -185205 Simple 786201999 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-12-14 -0.54 2.0 Uncertain significance 0 -185209 Simple 786202002 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-07 -0.54 1.5 Uncertain significance 0 -185211 Simple 80359214 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-17 -0.6 0.5 Uncertain significance 0 -185213 Simple 786202004 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-04-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -185214 Simple 190900046 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.1 1.0 Benign/Likely benign 1 -185216 Simple 786202006 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.1 2.0 Likely benign 0 -185219 Simple 373959274 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-27 -0.6 1.0 Uncertain significance 0 -185220 Simple 781740263 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-03-30 -5.4 1.5 Likely benign 0 -185221 Simple 756860186 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-19 -0.6 0.0 Uncertain significance 0 -185222 Simple 764122619 C . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-07-26 5.7 1.5 Likely pathogenic 0 -185223 Simple 757245615 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-07-01 -0.5700000000000001 1.5 Uncertain significance 0 -185225 Simple 1051771 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -13.2 2.0 Benign/Likely benign 0 -185226 Simple 200960251 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.2 0.25 Uncertain significance 0 -185227 Simple 786202014 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-03-21 -5.4 1.5 Likely benign 0 -185231 Simple 749507584 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185232 Simple 747898039 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-01-30 -5.1 2.5 Likely benign 0 -185233 Simple 531931623 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-22 -8.4 1.0 Benign/Likely benign 1 -185234 Simple 141921797 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -1.2 0.25 Uncertain significance 0 -185235 Simple 786202020 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185236 Simple 756626462 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185237 Simple 201648604 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-30 -5.4 1.5 Likely benign 0 -185238 Simple 786202022 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185240 Simple 786202024 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -185242 Simple 374950566 A . Pathogenic/Likely pathogenic 2 5 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-07-24 25.2 1.0 Pathogenic 1 -185247 Simple 201277352 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.2 0.5 Uncertain significance 0 -185249 Simple 786202031 CAT . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -0.81 1.6666666666666667 Uncertain significance 0 -185251 Simple 730881445 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185252 Simple 786202033 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -185253 Simple 786202034 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -185254 Simple 755818549 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.2 Benign/Likely benign 1 -185255 Simple 786202036 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185256 Simple 181852377 G . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-12 -13.8 1.5 Benign/Likely benign 0 -185259 Simple 55740729 GACTGACT . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-19 -0.6 0.5 Uncertain significance 0 -185260 Simple 786202039 C . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-05 -5.4 1.5 Likely benign 0 -185261 Simple 786202040 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -185264 Simple 80358082 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-19 -0.81 2.0 Uncertain significance 0 -185266 Simple 786202043 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -185267 Simple 148956636 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -0.6 0.5 Uncertain significance 0 -185268 Simple 3218695 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -8.4 1.0 Benign/Likely benign 1 -185270 Simple 754455433 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -5.4 1.5 Likely benign 0 -185271 Simple 369113809 T . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-14 -17.1 1.2 Benign/Likely benign 0 -185272 Simple 773370513 A . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-01-27 -1.17 1.25 Uncertain significance 0 -185273 Simple 373483056 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.5 0.4 Uncertain significance 0 -185274 Simple 34126013 A . Pathogenic/Likely pathogenic 2 7 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-06-12 26.1 1.0 Pathogenic 1 -185275 Simple 45466996 C . Likely benign 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-09-24 -17.4 0.8333333333333334 Benign/Likely benign 1 -185277 Simple 786202048 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-07-17 -5.4 2.0 Likely benign 0 -185280 Simple 786202051 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -185282 Simple 116481522 T . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -13.5 1.75 Benign/Likely benign 0 -185284 Simple 786202054 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185286 Simple 773441320 G . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -1.14 1.25 Uncertain significance 0 -185287 Simple 786202057 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185288 Simple 786202058 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185290 Simple 187862045 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-31 -8.4 1.0 Benign/Likely benign 1 -185291 Simple 786202060 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185292 Simple 786202061 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.3333333333333333 Pathogenic 0 -185294 Simple 786202063 - . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -1.47 0.4 Uncertain significance 0 -185295 Simple 786202064 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -185296 Simple 755349360 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185297 Simple 750746034 T . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -1.5 0.4 Uncertain significance 0 -185298 Simple 35979531 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-17 -0.51 2.5 Uncertain significance 0 -185300 Simple 397507979 T . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-10-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -185303 Simple 786202069 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -185304 Simple 786202070 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185307 Simple 786202073 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -0.54 1.5 Uncertain significance 0 -185308 Simple 149182949 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-09 -8.4 1.3333333333333333 Benign/Likely benign 1 -185310 Simple 769287847 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185311 Simple 377065665 A . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -1.5 0.2 Uncertain significance 0 -185312 Simple 786202076 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-11-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185315 Simple 370634278 C . Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -11.4 1.0 Benign/Likely benign 1 -185316 Simple 773013395 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -185318 Simple 786202081 T . Pathogenic 2 3 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-04-28 17.4 1.0 Pathogenic 0 -185320 Simple 786201869 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-01-18 -5.1 2.5 Likely benign 0 -185321 Simple 141464646 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-09 -0.5700000000000001 1.5 Uncertain significance 0 -185323 Simple 761748894 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -1.2 0.75 Uncertain significance 0 -185327 Simple 751465584 T . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-03 -5.4 2.0 Likely benign 0 -185328 Simple 786202089 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.25 Uncertain significance 0 -185329 Simple 201728859 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-21 -0.6 0.0 Uncertain significance 0 -185330 Simple 758941378 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-01 -0.6 0.5 Uncertain significance 0 -185332 Simple 786202092 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-19 -1.2 0.75 Uncertain significance 0 -185335 Simple 564050785 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-27 -5.4 2.0 Likely benign 0 -185337 Simple 786202096 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.87 1.0 Uncertain significance 0 -185338 Simple 786202097 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.0 Uncertain significance 0 -185339 Simple 150630090 A . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -1.2 0.25 Uncertain significance 0 -185340 Simple 786202098 C . Pathogenic/Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-22 9.0 0.0 Pathogenic/Likely pathogenic 0 -185342 Simple 786202100 - . Pathogenic 2 2 Paragangliomas 4;Hereditary cancer-predisposing syndrome 2017-05-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -185343 Simple 774127304 A . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -185345 Simple 786202103 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185346 Simple 777784520 A . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -8.4 1.3333333333333333 Benign/Likely benign 1 -185348 Simple 786202106 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.84 1.3333333333333333 Uncertain significance 0 -185351 Simple 753073979 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -185354 Simple 786202112 A . Pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-29 17.4 0.6666666666666666 Pathogenic 0 -185356 Simple 559190752 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185357 Simple 34490141 C . Benign/Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-21 -13.5 1.6666666666666667 Benign/Likely benign 0 -185358 Simple 540252208 A . Benign/Likely benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -16.8 1.2 Benign/Likely benign 0 -185360 Simple 756516114 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-03-24 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -185361 Simple 776266049 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -1.17 0.5 Uncertain significance 0 -185363 Simple 150142859 C . Likely benign 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -11.1 1.25 Benign/Likely benign 1 -185364 Simple 369493270 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-05 -0.5700000000000001 1.0 Uncertain significance 0 -185365 Simple 554849907 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185367 Simple 772173373 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -8.4 1.0 Benign/Likely benign 1 -185369 Simple 786202121 G . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-30 -8.4 1.6666666666666667 Benign/Likely benign 1 -185370 Simple 760502479 T . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-23 24.0 0.0 Pathogenic 0 -185376 Simple 374014162 T . Uncertain significance 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-30 -0.87 1.0 Uncertain significance 0 -185380 Simple 755962971 T . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-07-01 -5.4 2.0 Likely benign 0 -185385 Simple 70953658 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185386 Simple 765314472 G . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -1.2 0.5 Uncertain significance 0 -185388 Simple 751985298 T . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-09-01 -0.87 0.6666666666666666 Uncertain significance 0 -185390 Simple 775371838 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185391 Simple 367804502 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -1.17 0.75 Uncertain significance 0 -185396 Simple 45548638 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.5 0.6 Uncertain significance 0 -185398 Simple 786202142 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-14 -5.1 2.5 Likely benign 0 -185400 Simple 768127412 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-27 -0.6 0.5 Uncertain significance 0 -185402 Simple 786202146 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-05 -0.54 1.5 Uncertain significance 0 -185404 Simple 121912654 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185405 Simple 786202148 GATACTA . Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-18 15.0 0.4 Pathogenic 2 -185408 Simple 786202151 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-03-17 10.8 2.0 Pathogenic/Likely pathogenic 1 -185409 Simple 758781593 C . Likely benign 2 3 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-03-22 -8.4 1.3333333333333333 Benign/Likely benign 1 -185410 Simple 770778164 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.6 0.8 Benign/Likely benign 1 -185411 Simple 80358044 A . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-16 10.8 1.5 Pathogenic/Likely pathogenic 1 -185413 Simple 749056300 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-10-10 -1.2 0.25 Uncertain significance 0 -185414 Simple 786202155 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-25 -0.5700000000000001 1.5 Uncertain significance 0 -185415 Simple 786202156 AGG . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -185416 Simple 561993366 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-05 -0.87 1.3333333333333333 Uncertain significance 0 -185417 Simple 786202157 AAAG . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 22.8 1.5 Pathogenic 0 -185418 Simple 786202158 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 0.75 Benign/Likely benign 1 -185419 Simple 786202159 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185421 Simple 397507793 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-23 -0.6 1.0 Uncertain significance 0 -185422 Simple 786202160 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -185425 Simple 786202162 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -185426 Simple 773275841 T . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2016-10-11 -0.6 1.0 Uncertain significance 0 -185427 Simple 786202164 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-18 -0.84 1.3333333333333333 Uncertain significance 0 -185431 Simple 786202168 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-15 -0.5700000000000001 1.5 Uncertain significance 0 -185432 Simple 375978877 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-23 -5.4 1.5 Likely benign 0 -185437 Simple 201719927 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.2 0.0 Uncertain significance 0 -185438 Simple 773001248 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -0.87 1.0 Uncertain significance 0 -185439 Simple 370658123 C . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -11.4 1.0 Benign/Likely benign 1 -185444 Simple 765730332 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -0.87 1.0 Uncertain significance 0 -185449 Simple 138796072 G . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -16.8 1.4 Benign/Likely benign 0 -185450 Simple 786202181 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-27 -5.4 1.5 Likely benign 0 -185455 Simple 786202184 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-15 -0.5700000000000001 1.5 Uncertain significance 0 -185456 Simple 786202185 A . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-04-18 -0.54 1.5 Uncertain significance 0 -185459 Simple 766788652 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-21 -0.8999999999999999 1.0 Uncertain significance 0 -185460 Simple 369256181 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-15 -0.54 1.5 Uncertain significance 0 -185462 Simple 769766446 A . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-11-10 -1.2 0.0 Uncertain significance 0 -185463 Simple 143517321 A . Uncertain significance 2 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-14 -1.74 1.0 Uncertain significance 0 -185472 Simple 786202199 G . Likely benign 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2016-02-05 -5.4 2.0 Likely benign 0 -185475 Simple 786202202 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-29 -0.6 0.0 Uncertain significance 0 -185480 Simple 786202207 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -0.5700000000000001 1.5 Uncertain significance 0 -185481 Simple 80357415 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -0.6 0.0 Uncertain significance 0 -185482 Simple 786202208 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -0.54 1.5 Uncertain significance 0 -185484 Simple 786202210 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -185485 Simple 786202211 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -185488 Simple 786202213 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-08-19 -0.51 2.5 Uncertain significance 0 -185494 Simple 786202218 C . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-04-18 -1.44 1.0 Uncertain significance 0 -185497 Simple 764654925 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-01-15 -0.51 2.5 Uncertain significance 0 -185499 Simple 786202223 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -0.5700000000000001 1.0 Uncertain significance 0 -185500 Simple 786202224 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185501 Simple 587780624 - . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-26 26.7 1.0 Pathogenic 1 -185502 Simple 786202226 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -185503 Simple 786202227 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185505 Simple 786202229 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -8.4 1.0 Benign/Likely benign 1 -185506 Simple 751646468 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -185510 Simple 786202234 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-10 -0.5700000000000001 1.5 Uncertain significance 0 -185511 Simple 768676557 A . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -185513 Simple 745842591 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-08-04 -0.5700000000000001 1.5 Uncertain significance 0 -185514 Simple 786202238 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-10-03 -5.1 2.5 Likely benign 0 -185515 Simple 45587940 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-01-07 -0.51 2.5 Uncertain significance 0 -185518 Simple 757118000 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.44 0.8 Uncertain significance 0 -185522 Simple 780901872 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-10 -8.1 1.6666666666666667 Likely benign 0 -185523 Simple 786202246 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-20 -0.54 2.0 Uncertain significance 0 -185524 Simple 786202247 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-25 -0.6 0.0 Uncertain significance 0 -185526 Simple 786202249 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -185528 Simple 786202251 - . Likely pathogenic 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-01-20 6.0 1.0 Likely pathogenic 0 -185529 Simple 778193554 A . Likely benign 2 4 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-06 -11.4 1.25 Benign/Likely benign 1 -185532 Simple 758691069 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-08 -0.54 1.5 Uncertain significance 0 -185534 Simple 786202256 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-14 -0.5700000000000001 1.5 Uncertain significance 0 -185535 Simple 759149207 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2016-07-08 -1.1099999999999999 1.75 Uncertain significance 0 -185536 Simple 749212640 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -185537 Simple 786202259 - . Pathogenic/Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-03-15 8.7 1.0 Pathogenic/Likely pathogenic 0 -185542 Simple 146523293 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -185543 Simple 786202262 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-01 -0.54 2.0 Uncertain significance 0 -185546 Simple 558032755 T . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -8.4 1.3333333333333333 Benign/Likely benign 1 -185548 Simple 367925756 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.0 Uncertain significance 0 -185551 Simple 762751192 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-12 -5.4 1.5 Likely benign 0 -185553 Simple 745553724 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185554 Simple 377316982 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-15 -8.4 1.3333333333333333 Benign/Likely benign 1 -185555 Simple 770552705 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-05-26 -5.4 2.0 Likely benign 0 -185556 Simple 786202270 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.2 0.25 Uncertain significance 0 -185557 Simple 786202271 A . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -11.1 1.5 Benign/Likely benign 1 -185559 Simple 786202273 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-02-26 -5.1 2.5 Likely benign 0 -185563 Simple 368649242 C . Benign/Likely benign 2 6 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -19.5 1.3333333333333333 Benign/Likely benign 0 -185564 Simple 754783550 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -1.1400000000000001 1.25 Uncertain significance 0 -185565 Simple 786202278 A . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.2 Benign/Likely benign 1 -185568 Simple 786202281 C . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-10-02 -5.4 2.0 Likely benign 0 -185571 Simple 372159380 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185572 Simple 786202283 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-11 -0.6 0.5 Uncertain significance 0 -185574 Simple 528771743 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.0 Benign/Likely benign 1 -185575 Simple 760609798 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-26 -5.4 2.0 Likely benign 0 -185580 Simple 786202288 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-13 -0.5700000000000001 1.5 Uncertain significance 0 -185582 Simple 201875054 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -10.8 1.75 Benign/Likely benign 1 -185585 Simple 757498880 G . Uncertain significance 2 4 PTEN hamartoma tumor syndrome;Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2016-12-06 -1.2 1.0 Uncertain significance 0 -185586 Simple 759852661 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-17 -0.51 2.5 Uncertain significance 0 -185587 Simple 569928380 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-16 -0.87 0.6666666666666666 Uncertain significance 0 -185588 Simple 771310592 C . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185589 Simple 768777585 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-29 -5.4 2.0 Likely benign 0 -185591 Simple 61753295 A . Uncertain significance 2 5 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-09-25 -1.5 0.6 Uncertain significance 0 -185593 Simple 751253294 TT . Uncertain significance 2 5 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -1.5 0.6 Uncertain significance 0 -185594 Simple 757427210 G . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -8.4 1.6666666666666667 Benign/Likely benign 1 -185595 Simple 786202300 T . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -11.4 1.0 Benign/Likely benign 1 -185597 Simple 786202302 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-01-07 -0.6 1.0 Uncertain significance 0 -185598 Simple 138468963 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.5 Uncertain significance 0 -185600 Simple 750513866 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -8.4 1.3333333333333333 Benign/Likely benign 1 -185602 Simple 771049807 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -185603 Simple 758112386 A . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -185604 Simple 763273196 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185608 Simple 786202312 A . Likely benign 2 2 Lynch syndrome II;Hereditary cancer-predisposing syndrome 2016-01-15 -5.1 2.5 Likely benign 0 -185609 Simple 786202313 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-02 -0.84 1.0 Uncertain significance 0 -185611 Simple 376799914 A . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-03 -1.17 0.5 Uncertain significance 0 -185613 Simple 756003599 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-27 -0.6 0.5 Uncertain significance 0 -185616 Simple 786202318 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -185620 Simple 786202320 T . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-11-15 -5.4 2.0 Likely benign 0 -185621 Simple 201000407 G . Likely benign 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -11.1 1.25 Benign/Likely benign 1 -185622 Simple 786202321 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-30 -5.4 2.0 Likely benign 0 -185623 Simple 786202322 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-23 -0.84 1.3333333333333333 Uncertain significance 0 -185625 Simple 143577586 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -0.87 1.0 Uncertain significance 0 -185627 Simple 786202325 T . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-12-24 -8.4 1.6666666666666667 Benign/Likely benign 1 -185629 Simple 587781374 T . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185631 Simple 561394771 C . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-10 -5.4 1.5 Likely benign 0 -185632 Simple 763473729 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-02 -5.1 2.5 Likely benign 0 -185635 Simple 756036331 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-01-13 -0.6 1.0 Uncertain significance 0 -185638 Simple 150427791 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185641 Simple 786202335 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-13 -8.4 1.3333333333333333 Benign/Likely benign 1 -185643 Simple 786202337 C . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-02 -5.4 2.0 Likely benign 0 -185645 Simple 786202339 - . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185648 Simple 373939052 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-15 -0.51 2.5 Uncertain significance 0 -185650 Simple 786202343 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -5.4 2.0 Likely benign 0 -185651 Simple 786202344 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-24 -0.54 2.0 Uncertain significance 0 -185653 Simple 777184451 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-09-01 -0.5700000000000001 1.5 Uncertain significance 0 -185654 Simple 786202346 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -185657 Simple 751665426 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -185658 Simple 786202350 - . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-08 16.2 1.6666666666666667 Pathogenic 0 -185660 Simple 759867616 A . Likely benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -23.7 0.7142857142857143 Benign/Likely benign 1 -185661 Simple 786202353 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -185662 Simple 786202354 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-16 -0.84 1.6666666666666667 Uncertain significance 0 -185663 Simple 786202355 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-04 -0.54 2.0 Uncertain significance 0 -185664 Simple 80358964 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.54 1.5 Uncertain significance 0 -185665 Simple 759138390 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -0.87 1.0 Uncertain significance 0 -185667 Simple 773171352 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 -0.84 1.3333333333333333 Uncertain significance 0 -185668 Simple 746259256 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-22 -0.54 2.0 Uncertain significance 0 -185670 Simple 63750817 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-08 -0.54 1.5 Uncertain significance 0 -185673 Simple 786202363 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -0.54 1.5 Uncertain significance 0 -185675 Simple 544977115 C . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -11.4 1.0 Benign/Likely benign 1 -185680 Simple 786202369 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-04-24 -5.4 2.0 Likely benign 0 -185681 Simple 745943179 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-25 -0.54 2.0 Uncertain significance 0 -185686 Simple 786202374 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185687 Simple 774849810 G . Likely benign 3 7 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.4 1.0 Benign/Likely benign 1 -185688 Simple 786202376 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185689 Simple 777228325 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -185692 Simple 779267700 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -11.4 1.0 Benign/Likely benign 1 -185693 Simple 587780655 - . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 -0.54 1.5 Uncertain significance 0 -185694 Simple 786202382 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -185695 Simple 786202383 C . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-31 -0.84 1.6666666666666667 Uncertain significance 0 -185697 Simple 786202385 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -185698 Simple 786202386 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-30 -0.5700000000000001 1.5 Uncertain significance 0 -185699 Simple 146917776 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -185700 Simple 786202387 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -185704 Simple 786202390 A . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -11.4 1.0 Benign/Likely benign 1 -185706 Simple 759882045 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185707 Simple 749306433 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-09-28 -0.6 0.5 Uncertain significance 0 -185709 Simple 786202394 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-08-02 -0.6 1.0 Uncertain significance 0 -185711 Simple 786202396 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -0.54 1.5 Uncertain significance 0 -185713 Simple 786202398 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-16 -0.51 2.5 Uncertain significance 0 -185716 Simple 757281184 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -1.17 0.75 Uncertain significance 0 -185717 Simple 759293475 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.25 Benign/Likely benign 1 -185723 Simple 786202406 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -185724 Simple 3092826 C . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -11.1 1.6666666666666667 Benign/Likely benign 0 -185727 Simple 786202408 T . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-04-23 -5.4 2.0 Likely benign 0 -185728 Simple 786202409 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-12 -8.4 1.3333333333333333 Benign/Likely benign 1 -185730 Simple 377415802 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.0 Uncertain significance 0 -185731 Simple 756281673 G . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -185732 Simple 781496151 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -11.4 1.0 Benign/Likely benign 1 -185734 Simple 768883989 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-03 -5.4 1.5 Likely benign 0 -185735 Simple 786202414 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-24 -11.4 0.75 Benign/Likely benign 1 -185736 Simple 371021126 T . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -11.1 1.25 Benign/Likely benign 1 -185738 Simple 553363502 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-05-09 -8.4 1.6666666666666667 Benign/Likely benign 1 -185739 Simple 374684043 G . Likely benign 2 6 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -16.8 1.3333333333333333 Benign/Likely benign 1 -185741 Simple 786202417 AA . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-23 -0.87 0.6666666666666666 Uncertain significance 0 -185745 Simple 786202421 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -185746 Simple 786202422 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185749 Simple 786202425 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185750 Simple 754254199 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185751 Simple 778959722 A . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-22 -8.1 1.6666666666666667 Likely benign 0 -185754 Simple 369340015 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185755 Simple 786202430 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-22 -0.54 2.0 Uncertain significance 0 -185758 Simple 786202433 G . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-27 -8.4 1.6666666666666667 Benign/Likely benign 1 -185764 Simple 45617634 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.5 Uncertain significance 0 -185766 Simple 753269143 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -185769 Simple 786202441 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 28.8 1.6 Pathogenic 0 -185770 Simple 768130289 GG . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-04 8.4 1.5 Pathogenic/Likely pathogenic 0 -185771 Simple 786202443 A . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-18 -8.4 1.3333333333333333 Benign/Likely benign 1 -185772 Simple 757503642 C . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -1.17 1.0 Uncertain significance 0 -185773 Simple 786202445 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-25 -5.7 1.5 Likely benign 0 -185774 Simple 368914740 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -1.17 1.0 Uncertain significance 0 -185775 Simple 786202446 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185776 Simple 761086521 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-01 -5.4 1.5 Likely benign 0 -185778 Simple 786202448 A . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-10-30 -5.4 2.0 Likely benign 0 -185779 Simple 748469311 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -8.4 1.3333333333333333 Benign/Likely benign 1 -185781 Simple 568027879 A . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -1.2 0.75 Uncertain significance 0 -185783 Simple 747522239 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-21 -0.6 0.5 Uncertain significance 0 -185784 Simple 786202452 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-29 -11.4 1.25 Benign/Likely benign 1 -185785 Simple 761770500 T . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.25 Uncertain significance 0 -185787 Simple 757397623 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185789 Simple 786202457 T . Pathogenic 2 4 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome;Lisch nodules;Subcutaneous neurofibromas 2017-04-28 22.2 1.5 Pathogenic 0 -185791 Simple 786202459 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-11-27 -0.51 2.5 Uncertain significance 0 -185792 Simple 751078831 G . Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-11 -11.4 1.25 Benign/Likely benign 1 -185793 Simple 786202461 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -185795 Simple 587780640 . . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-11-14 10.2 2.5 Pathogenic/Likely pathogenic 1 -185799 Simple 587776424 - . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-19 21.0 0.75 Pathogenic 1 -185800 Simple 549252135 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-12 -5.4 1.5 Likely benign 0 -185801 Simple 786202468 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-29 -0.54 2.0 Uncertain significance 0 -185803 Simple 786202470 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-05-13 -0.54 2.0 Uncertain significance 0 -185804 Simple 786202471 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-12 -5.4 2.0 Likely benign 0 -185805 Simple 375560135 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -185806 Simple 145796331 C . Benign/Likely benign 2 7 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -23.4 0.8571428571428571 Benign/Likely benign 0 -185807 Simple 786202472 G . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -8.4 1.3333333333333333 Benign/Likely benign 1 -185808 Simple 786202473 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-29 -0.6 0.0 Uncertain significance 0 -185813 Simple 786202477 G . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -8.4 1.3333333333333333 Benign/Likely benign 1 -185815 Simple 786202478 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-13 -0.5700000000000001 1.0 Uncertain significance 0 -185816 Simple 786202479 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -185819 Simple 786202481 TT . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-26 -0.8999999999999999 0.0 Uncertain significance 0 -185826 Simple 80357459 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-20 -0.6 1.0 Uncertain significance 0 -185828 Simple 776493195 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.6 0.5 Uncertain significance 0 -185829 Simple 745945481 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -185830 Simple 749918474 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185831 Simple 769799936 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-13 -8.4 1.3333333333333333 Benign/Likely benign 1 -185832 Simple 138526014 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185833 Simple 786202490 - . Pathogenic 2 4 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 24.0 0.0 Pathogenic 0 -185834 Simple 749289195 G . Likely benign 2 5 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -14.4 1.2 Benign/Likely benign 1 -185837 Simple 376213437 C . Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -14.4 1.2 Benign/Likely benign 1 -185838 Simple 786202494 - . Pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-12-19 10.8 2.0 Pathogenic/Likely pathogenic 1 -185840 Simple 375776474 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-31 -5.4 1.5 Likely benign 0 -185842 Simple 786202497 - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-19 12.0 0.0 Pathogenic/Likely pathogenic 1 -185845 Simple 730881383 T . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-26 -1.5 0.2 Uncertain significance 0 -185846 Simple 786202500 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-07-20 11.4 1.0 Pathogenic/Likely pathogenic 1 -185847 Simple 753468016 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.0 Uncertain significance 0 -185849 Simple 773495195 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -8.1 1.6666666666666667 Likely benign 0 -185852 Simple 750897021 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -185853 Simple 786202507 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-06-22 -1.17 0.75 Uncertain significance 0 -185856 Simple 786202510 C . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.17 0.75 Uncertain significance 0 -185857 Simple 786202511 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-13 -0.6 1.0 Uncertain significance 0 -185864 Simple 776043746 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.94 1.4 Benign/Likely benign 1 -185865 Simple 786202519 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-19 -0.54 2.0 Uncertain significance 0 -185866 Simple 542392980 G . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -0.87 0.6666666666666666 Uncertain significance 0 -185867 Simple 786202520 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185869 Simple 779869418 G . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-09-22 -8.1 2.0 Likely benign 0 -185871 Simple 149349675 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.1 1.6666666666666667 Benign/Likely benign 1 -185879 Simple 786202531 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-04 -5.4 1.5 Likely benign 0 -185880 Simple 786202532 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185883 Simple 786202534 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-16 -0.81 2.0 Uncertain significance 0 -185885 Simple 786202536 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-09-28 -0.54 2.0 Uncertain significance 0 -185887 Simple 754770960 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185889 Simple 371149159 T . Benign/Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -17.1 1.2 Benign/Likely benign 0 -185890 Simple 397507303 T . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-01-20 8.4 2.0 Pathogenic/Likely pathogenic 0 -185895 Simple 786202542 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-28 -0.87 1.0 Uncertain significance 0 -185896 Simple 786202543 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.87 1.0 Uncertain significance 0 -185899 Simple 201750635 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185900 Simple 786202545 C . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-18 10.8 2.0 Pathogenic/Likely pathogenic 0 -185906 Simple 786202550 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-14 -0.6 0.5 Uncertain significance 0 -185908 Simple 749859221 A . Likely benign 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -185913 Simple 143502927 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -185914 Simple 786202557 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-30 -5.4 1.5 Likely benign 0 -185915 Simple 767613429 G . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -1.47 0.8 Uncertain significance 0 -185917 Simple 748064845 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-24 -0.5700000000000001 1.5 Uncertain significance 0 -185922 Simple 367890377 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-09-07 -1.17 0.75 Uncertain significance 0 -185924 Simple 781254437 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -1.2 0.5 Uncertain significance 0 -185925 Simple 114185660 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185926 Simple 786202567 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-06 -0.6 1.0 Uncertain significance 0 -185927 Simple 750866397 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.84 1.3333333333333333 Uncertain significance 0 -185928 Simple 200824831 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-05 -0.87 1.3333333333333333 Uncertain significance 0 -185930 Simple 786202570 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185933 Simple 4986859 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-22 -0.6 1.0 Uncertain significance 0 -185935 Simple 750954647 A . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -8.1 1.6666666666666667 Likely benign 0 -185937 Simple 567838745 A . Likely benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-30 -14.4 1.0 Benign/Likely benign 1 -185938 Simple 786202576 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -185939 Simple 769554577 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-07 -1.2 0.25 Uncertain significance 0 -185940 Simple 762645507 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-07-15 -0.87 1.3333333333333333 Uncertain significance 0 -185941 Simple 786202579 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-12 -0.51 2.5 Uncertain significance 0 -185942 Simple 777863000 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-08-06 -0.5700000000000001 1.5 Uncertain significance 0 -185943 Simple 786202581 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-01 -5.4 1.5 Likely benign 0 -185944 Simple 63750032 G . Likely benign 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -14.1 1.2 Benign/Likely benign 1 -185952 Simple 779626613 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -8.4 1.0 Benign/Likely benign 1 -185953 Simple 750741214 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-01-12 -1.08 2.0 Uncertain significance 0 -185954 Simple 786202587 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -185956 Simple 765881070 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185957 Simple 759587160 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-05-26 -0.6 1.0 Uncertain significance 0 -185959 Simple 201103359 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185961 Simple 55996097 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 19.8 1.75 Pathogenic 0 -185963 Simple 786202594 - . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-02 9.6 3.0 Pathogenic/Likely pathogenic 0 -185964 Simple 536544621 A . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-07-28 -5.4 1.5 Likely benign 0 -185965 Simple 747655835 A . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-10-19 -0.6 0.5 Uncertain significance 0 -185967 Simple 375783941 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -185969 Simple 786202598 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-08 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -185970 Simple 778274196 T . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -11.1 1.25 Benign/Likely benign 1 -185971 Simple 786202600 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -185972 Simple 786202601 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2016-11-20 17.4 1.3333333333333333 Pathogenic 0 -185973 Simple 200487648 A . Likely benign 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-07-19 -8.1 1.6666666666666667 Likely benign 0 -185975 Simple 774179198 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-10 -1.2 0.25 Uncertain significance 0 -185977 Simple 141586345 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-23 -0.8999999999999999 1.0 Uncertain significance 0 -185978 Simple 786202605 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-11-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185979 Simple 751273275 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-28 -5.4 1.5 Likely benign 0 -185981 Simple 146017595 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -185982 Simple 587778538 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-11-15 -0.6 1.0 Uncertain significance 0 -185984 Simple 146833872 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-08-02 -5.4 1.5 Likely benign 0 -185985 Simple 786202608 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-06-30 10.8 2.0 Pathogenic/Likely pathogenic 1 -185987 Simple 786202610 - . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2017-08-02 26.4 0.6 Pathogenic 1 -185988 Simple 786202611 A . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-09-20 -0.54 2.0 Uncertain significance 0 -185989 Simple 786202612 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-16 -0.51 2.5 Uncertain significance 0 -185993 Simple 786202616 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185996 Simple 80357451 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -1.1400000000000001 1.25 Uncertain significance 0 -185997 Simple 786202619 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -185998 Simple 786202620 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-25 -0.6 1.0 Uncertain significance 0 -185999 Simple 535547513 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.2 Benign/Likely benign 1 -186001 Simple 542520309 T . Benign/Likely benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -16.5 1.4 Benign/Likely benign 0 -186004 Simple 786202623 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186009 Simple 786202626 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-21 -5.4 2.0 Likely benign 0 -186010 Simple 786202627 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -186011 Simple 748631472 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -186013 Simple 746495820 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.17 0.5 Uncertain significance 0 -186014 Simple 587781373 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-01 -11.1 1.25 Benign/Likely benign 1 -186015 Simple 781609846 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186016 Simple 786202631 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.25 Pathogenic 0 -186017 Simple 534184145 C . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -0.87 1.0 Uncertain significance 0 -186018 Simple 786202632 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -0.5700000000000001 1.0 Uncertain significance 0 -186019 Simple 546077003 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.5 Uncertain significance 0 -186020 Simple 749386551 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-16 -5.4 1.5 Likely benign 0 -186021 Simple 773357672 G . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome 2017-02-16 -0.8999999999999999 1.0 Uncertain significance 0 -186022 Simple 786202635 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186023 Simple 786202636 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-14 -0.6 1.0 Uncertain significance 0 -186024 Simple 4986856 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186026 Simple 786202638 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-05 -5.1 2.5 Likely benign 0 -186027 Simple 776969475 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-15 -0.6 1.0 Uncertain significance 0 -186029 Simple 786202641 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-15 -0.87 0.6666666666666666 Uncertain significance 0 -186030 Simple 760097413 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-01-07 -5.1 2.5 Likely benign 0 -186031 Simple 772605790 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-13 -5.4 2.0 Likely benign 0 -186035 Simple 753153576 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-06 8.4 1.5 Pathogenic/Likely pathogenic 0 -186038 Simple 730881793 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-12 -1.2 0.5 Uncertain significance 0 -186041 Simple 786202651 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-19 -5.4 2.0 Likely benign 0 -186042 Simple 765950064 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -186044 Simple 63751023 T . Uncertain significance 2 3 not specified;not provided;Hereditary cancer-predisposing syndrome 2017-03-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186047 Simple 756499058 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -186051 Simple 552505690 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-24 -0.6 1.0 Uncertain significance 0 -186052 Simple 587780658 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -186054 Simple 779597467 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-14 -0.6 0.0 Uncertain significance 0 -186055 Simple 757836195 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.5 Uncertain significance 0 -186056 Simple 761101420 A . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-12-05 -0.8999999999999999 1.0 Uncertain significance 0 -186058 Simple 137854575 G . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-11-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -186060 Simple 786202663 T . Likely benign 2 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2016-10-26 -5.4 2.0 Likely benign 0 -186061 Simple 763308607 G . Likely pathogenic 2 3 Hereditary nonpolyposis colorectal cancer type 4;not provided;Hereditary cancer-predisposing syndrome 2017-03-17 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -186062 Simple 786202665 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-27 -0.6 1.0 Uncertain significance 0 -186064 Simple 777755589 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -186065 Simple 587781406 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-02 -0.54 1.5 Uncertain significance 0 -186066 Simple 370591460 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -186069 Simple 786202669 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-15 -1.08 2.0 Uncertain significance 0 -186072 Simple 750213850 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-21 -5.4 1.5 Likely benign 0 -186075 Simple 35164771 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -8.4 1.0 Benign/Likely benign 1 -186078 Simple 752488540 C . Benign/Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-27 -17.1 1.2 Benign/Likely benign 0 -186080 Simple 369070738 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.5 Uncertain significance 0 -186081 Simple 771166271 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -186082 Simple 144545031 G . Likely benign 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -8.4 1.0 Benign/Likely benign 1 -186083 Simple 786202680 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -11.4 1.25 Benign/Likely benign 1 -186084 Simple 142619269 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-23 -5.4 1.5 Likely benign 0 -186087 Simple 778123057 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-10 -0.87 1.0 Uncertain significance 0 -186090 Simple 786202684 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -186091 Simple 786202685 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-09 -0.54 1.5 Uncertain significance 0 -186093 Simple 745489489 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-26 -0.5700000000000001 1.0 Uncertain significance 0 -186095 Simple 201604273 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-05 -0.5700000000000001 1.0 Uncertain significance 0 -186097 Simple 786202690 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-11 -5.4 1.5 Likely benign 0 -186099 Simple 786202692 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-08 -5.4 1.5 Likely benign 0 -186100 Simple 786202693 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-05-10 -0.87 1.3333333333333333 Uncertain significance 0 -186103 Simple 786202695 - . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-01-22 16.200000000000003 2.0 Pathogenic 0 -186104 Simple 786202696 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-09 -5.4 1.5 Likely benign 0 -186105 Simple 772995929 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-04 -0.5700000000000001 1.0 Uncertain significance 0 -186107 Simple 786202699 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -1.2 0.75 Uncertain significance 0 -186108 Simple 141685349 C . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -11.1 1.25 Benign/Likely benign 1 -186109 Simple 786202700 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -186110 Simple 111539978 C . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.5 0.6 Uncertain significance 0 -186111 Simple 786202701 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-07 -0.84 1.0 Uncertain significance 0 -186112 Simple 778391123 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-08 -0.5700000000000001 1.5 Uncertain significance 0 -186118 Simple 786202707 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -186122 Simple 370152402 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-02 -0.5700000000000001 1.5 Uncertain significance 0 -186126 Simple 786202713 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-19 -0.54 2.0 Uncertain significance 0 -186129 Simple 376790729 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.17 0.5 Uncertain significance 0 -186130 Simple 375905418 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -1.2 0.75 Uncertain significance 0 -186131 Simple 757508086 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-31 -5.4 1.5 Likely benign 0 -186134 Simple 114037612 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-05 -0.6 1.0 Uncertain significance 0 -186135 Simple 786202719 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-09 -0.5700000000000001 1.5 Uncertain significance 0 -186138 Simple 786202722 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186139 Simple 63750686 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -1.2 0.25 Uncertain significance 0 -186142 Simple 786202725 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -0.84 1.3333333333333333 Uncertain significance 0 -186145 Simple 376196220 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-10 -0.81 2.0 Uncertain significance 0 -186147 Simple 773332695 - . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186148 Simple 786202730 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.14 1.0 Uncertain significance 0 -186150 Simple 786202732 G . Pathogenic/Likely pathogenic 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2016-10-04 12.0 1.0 Pathogenic/Likely pathogenic 0 -186151 Simple 374399939 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.84 1.0 Uncertain significance 0 -186152 Simple 147112946 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-03 -0.8999999999999999 1.0 Uncertain significance 0 -186155 Simple 41293471 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-29 -1.14 1.5 Uncertain significance 0 -186157 Simple 754752449 G . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-05-20 -5.4 2.0 Likely benign 0 -186160 Simple 763647680 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-10-03 -6.0 0.5 Likely benign 0 -186161 Simple 786202740 G . Uncertain significance 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-01 -1.1099999999999999 1.25 Uncertain significance 0 -186162 Simple 565708398 G . Uncertain significance 2 3 Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Hereditary cancer-predisposing syndrome 2017-07-28 -0.87 0.6666666666666666 Uncertain significance 0 -186167 Simple 786202743 T . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-13 20.1 1.25 Pathogenic 1 -186168 Simple 747556655 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-09-06 -5.4 2.0 Likely benign 0 -186169 Simple 587781741 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -186170 Simple 769436449 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.5 0.4 Uncertain significance 0 -186174 Simple 786202748 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-30 -5.4 2.0 Likely benign 0 -186175 Simple 368209468 T . Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -11.1 1.25 Benign/Likely benign 1 -186178 Simple 786202751 A . Likely benign 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-07-26 -5.4 2.0 Likely benign 0 -186180 Simple 786202753 G . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.54 1.5 Uncertain significance 0 -186181 Simple 757653982 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -0.87 1.0 Uncertain significance 0 -186184 Simple 786202756 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186187 Simple 747771951 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186189 Simple 786202760 A . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-06-06 -1.5 0.6 Uncertain significance 0 -186190 Simple 769418914 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -11.1 1.5 Benign/Likely benign 1 -186194 Simple 786202765 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-07-16 -5.1 2.5 Likely benign 0 -186196 Simple 63750078 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-10 -0.6 0.5 Uncertain significance 0 -186197 Simple 375380414 T . Uncertain significance 2 4 Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-03 -1.17 0.75 Uncertain significance 0 -186199 Simple 63749932 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-19 -0.6 1.0 Uncertain significance 0 -186200 Simple 786202768 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-30 -0.6 0.5 Uncertain significance 0 -186202 Simple 786202770 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-19 -0.78 2.0 Uncertain significance 0 -186203 Simple 768001441 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -0.87 1.0 Uncertain significance 0 -186207 Simple 771641237 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.5 Uncertain significance 0 -186208 Simple 781472719 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-10 -8.1 1.6666666666666667 Likely benign 0 -186210 Simple 754275014 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186212 Simple 3136351 C . Benign/Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -14.1 1.5 Benign/Likely benign 0 -186213 Simple 786202780 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -186215 Simple 786202782 - . Pathogenic 2 4 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-08-24 23.4 0.5 Pathogenic 0 -186217 Simple 786202784 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-25 -8.4 1.3333333333333333 Benign/Likely benign 1 -186221 Simple 146243469 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -1.2 0.25 Uncertain significance 0 -186223 Simple 786202789 TACCTACC . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186225 Simple 786202791 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186226 Simple 780178752 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -11.1 1.5 Benign/Likely benign 1 -186227 Simple 765237563 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-19 -1.2 0.75 Uncertain significance 0 -186229 Simple 786202795 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-16 -0.54 2.0 Uncertain significance 0 -186230 Simple 786202796 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -186232 Simple 368055906 C . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.1 1.0 Benign/Likely benign 1 -186236 Simple 786202799 C . Likely pathogenic 2 3 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-10 8.7 1.0 Pathogenic/Likely pathogenic 1 -186238 Simple 55882234 C . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-15 -8.1 2.0 Likely benign 0 -186242 Simple 786202800 - . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-26 26.7 0.8 Pathogenic 1 -186245 Simple 201708813 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -11.4 1.25 Benign/Likely benign 1 -186246 Simple 786202803 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -186247 Simple 139612775 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-23 -8.1 1.6666666666666667 Likely benign 0 -186248 Simple 779808083 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186251 Simple 372673338 T . Uncertain significance 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -1.5 0.4 Uncertain significance 0 -186252 Simple 397509100 C . Uncertain significance 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.6199999999999999 1.5 Uncertain significance 0 -186253 Simple 786202807 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -186254 Simple 786202808 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-08-22 -0.54 2.0 Uncertain significance 0 -186255 Simple 587781599 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-22 -0.54 2.0 Uncertain significance 0 -186257 Simple 757632129 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-02-11 -0.54 2.0 Uncertain significance 0 -186258 Simple 786202811 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-23 -5.4 2.0 Likely benign 0 -186259 Simple 200496768 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-05-03 -5.4 2.0 Likely benign 0 -186266 Simple 772709195 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -186270 Simple 777741543 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -1.1400000000000001 1.25 Uncertain significance 0 -186272 Simple 786202822 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-23 -0.51 2.5 Uncertain significance 0 -186275 Simple 781213977 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-17 -0.6 1.0 Uncertain significance 0 -186276 Simple 786202826 G . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-02-01 5.1 2.5 Likely pathogenic 0 -186277 Simple 185439615 A . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-05-01 -0.6 0.5 Uncertain significance 0 -186278 Simple 786202827 A . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-07-25 -5.4 2.0 Likely benign 0 -186279 Simple 760686348 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-04 -0.87 0.6666666666666666 Uncertain significance 0 -186281 Simple 774895427 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-04 -0.54 1.5 Uncertain significance 0 -186288 Simple 786202836 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-29 -0.54 2.0 Uncertain significance 0 -186289 Simple 754152768 G . Likely benign 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -11.4 1.0 Benign/Likely benign 1 -186290 Simple 11575998 C . Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -11.4 1.25 Benign/Likely benign 1 -186292 Simple 786202839 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-11-14 -0.5700000000000001 1.5 Uncertain significance 0 -186294 Simple 367921107 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -22.5 1.5 Benign/Likely benign 1 -186296 Simple 786202842 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -186297 Simple 786202843 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-09-10 -0.51 2.5 Uncertain significance 0 -186299 Simple 786202844 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186300 Simple 765577023 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-15 -8.4 1.6666666666666667 Benign/Likely benign 1 -186301 Simple 758781593 G . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-03-05 -0.54 2.0 Uncertain significance 0 -186302 Simple 786202846 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-04-20 -0.5700000000000001 1.5 Uncertain significance 0 -186304 Simple 786202848 A . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-01-15 10.2 2.5 Pathogenic/Likely pathogenic 1 -186306 Simple 786202850 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-18 -0.54 1.5 Uncertain significance 0 -186307 Simple 779490777 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-22 -5.4 1.5 Likely benign 0 -186308 Simple 79075295 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-07 -0.6 0.5 Uncertain significance 0 -186309 Simple 754414731 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-05-03 -1.2 0.75 Uncertain significance 0 -186311 Simple 769644352 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-27 -0.54 1.5 Uncertain significance 0 -186313 Simple 786201968 C . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -1.1099999999999999 1.5 Uncertain significance 0 -186314 Simple 574673404 T . Likely pathogenic 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-09-22 8.7 1.0 Pathogenic/Likely pathogenic 1 -186315 Simple 786202856 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-03 -0.6 0.5 Uncertain significance 0 -186316 Simple 786202857 G . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -0.54 1.5 Uncertain significance 0 -186317 Simple 747235838 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-01-26 -0.81 2.0 Uncertain significance 0 -186318 Simple 786202859 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186319 Simple 767912817 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -186321 Simple 370454753 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-06 -5.4 1.5 Likely benign 0 -186322 Simple 370240037 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.17 1.0 Uncertain significance 0 -186324 Simple 139620052 A . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-10 -7.800000000000001 2.5 Likely benign 1 -186326 Simple 781513008 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -5.7 1.0 Likely benign 0 -186327 Simple 786202863 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -186330 Simple 770641163 T . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;Ataxia-telangiectasia syndrome;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-02 32.4 0.8333333333333334 Pathogenic 1 -186331 Simple 570771738 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-14 -5.4 1.5 Likely benign 0 -186333 Simple 4795581 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-16 -0.5700000000000001 1.0 Uncertain significance 0 -186334 Simple 758636052 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-06 -0.51 2.5 Uncertain significance 0 -186338 Simple 786202870 C . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-31 -1.1099999999999999 1.5 Uncertain significance 0 -186339 Simple 786202871 AA . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.6 0.5 Uncertain significance 0 -186340 Simple 63751028 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-22 -0.6 0.0 Uncertain significance 0 -186341 Simple 771087264 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-09 -0.5700000000000001 1.0 Uncertain significance 0 -186342 Simple 765575482 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -186343 Simple 786202874 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-11-02 -0.6 1.0 Uncertain significance 0 -186345 Simple 786202875 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186347 Simple 370769989 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-08 -0.6 0.0 Uncertain significance 0 -186350 Simple 777460725 C . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.17 0.5 Uncertain significance 0 -186351 Simple 748634900 A . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-04 8.4 1.5 Pathogenic/Likely pathogenic 0 -186352 Simple 776010326 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.17 1.0 Uncertain significance 0 -186354 Simple 538105098 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-26 -0.87 1.0 Uncertain significance 0 -186355 Simple 768247528 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-17 -0.87 1.3333333333333333 Uncertain significance 0 -186357 Simple 786202885 T . Likely benign 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -8.1 1.6666666666666667 Likely benign 0 -186358 Simple 745423387 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-01-05 -11.4 1.5 Benign/Likely benign 1 -186361 Simple 779617676 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-11 -0.6 0.0 Uncertain significance 0 -186362 Simple 786202890 T . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-10-16 -0.6 0.0 Uncertain significance 0 -186364 Simple 770637624 T . Pathogenic 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-07-05 29.4 0.6 Pathogenic 0 -186366 Simple 786202893 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-21 -0.5700000000000001 1.0 Uncertain significance 0 -186367 Simple 375988871 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-08-01 -8.7 1.3333333333333333 Benign/Likely benign 1 -186368 Simple 183296277 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-06 -5.4 2.0 Likely benign 0 -186372 Simple 786202897 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-28 -0.87 1.3333333333333333 Uncertain significance 0 -186374 Simple 751973865 T . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.2 0.25 Uncertain significance 0 -186375 Simple 786202900 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-07 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -186376 Simple 772394197 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-08 -11.4 1.25 Benign/Likely benign 1 -186379 Simple 758044862 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -186381 Simple 786202906 - . Pathogenic 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-13 28.2 1.0 Pathogenic 0 -186382 Simple 62625276 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-25 -0.84 1.0 Uncertain significance 0 -186383 Simple 786201228 C . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-09-11 -5.4 2.0 Likely benign 0 -186386 Simple 773176120 T . Likely benign 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-07-08 -5.4 1.5 Likely benign 0 -186391 Simple 786202914 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-10-12 -5.4 2.0 Likely benign 0 -186394 Simple 766270336 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-10-20 -0.54 2.0 Uncertain significance 0 -186396 Simple 786202918 T . Pathogenic 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-03-01 16.8 1.6666666666666667 Pathogenic 0 -186397 Simple 786202919 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186398 Simple 786202920 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -186400 Simple 786202921 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-21 -0.54 2.0 Uncertain significance 0 -186403 Simple 786202924 T . Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-03-08 -14.1 1.4 Benign/Likely benign 1 -186408 Simple 772850740 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.5 Uncertain significance 0 -186409 Simple 148116863 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-08-16 -5.1 2.5 Likely benign 0 -186411 Simple 747604569 A . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-26 24.0 0.0 Pathogenic 0 -186412 Simple 372131911 C . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.0 Uncertain significance 0 -186413 Simple 148343173 A . Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -14.4 1.0 Benign/Likely benign 1 -186416 Simple 747802641 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-14 -1.2 0.5 Uncertain significance 0 -186418 Simple 786202935 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -0.6 0.5 Uncertain significance 0 -186422 Simple 786202939 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-16 -5.4 2.0 Likely benign 0 -186426 Simple 786202943 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-26 -0.84 1.0 Uncertain significance 0 -186427 Simple 786202944 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-16 -0.51 2.5 Uncertain significance 0 -186429 Simple 786202945 AT . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-20 7.8 2.0 Likely pathogenic 1 -186432 Simple 757963162 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-13 -0.6 1.0 Uncertain significance 0 -186433 Simple 773546064 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.0 Uncertain significance 0 -186435 Simple 786202950 G . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-11 -11.1 1.75 Benign/Likely benign 1 -186438 Simple 749567681 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-17 -0.6 0.5 Uncertain significance 0 -186439 Simple 786202953 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -0.8999999999999999 0.0 Uncertain significance 0 -186440 Simple 587781321 A . Uncertain significance 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.7999999999999998 0.5 Uncertain significance 0 -186441 Simple 537257801 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-04 -5.4 1.5 Likely benign 0 -186444 Simple 745821999 G . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-15 -8.4 1.0 Benign/Likely benign 1 -186445 Simple 786202957 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.5 Uncertain significance 0 -186447 Simple 786202959 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-23 -5.4 2.0 Likely benign 0 -186449 Simple 80358446 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-27 -0.54 2.0 Uncertain significance 0 -186450 Simple 751286806 T . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-03-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186452 Simple 786202963 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186453 Simple 767530204 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -186454 Simple 786202965 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-21 -0.6 1.0 Uncertain significance 0 -186455 Simple 786202966 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -186456 Simple 786202967 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.25 Benign/Likely benign 1 -186458 Simple 764509489 C . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-05-10 18.0 0.6666666666666666 Pathogenic 0 -186460 Simple 754228872 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-02-16 -0.48 3.0 Uncertain significance 0 -186462 Simple 730881747 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -8.4 1.0 Benign/Likely benign 1 -186463 Simple 761960690 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-12 -0.8999999999999999 0.0 Uncertain significance 0 -186464 Simple 786202973 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-18 -0.54 2.0 Uncertain significance 0 -186466 Simple 786202975 G . Uncertain significance 2 3 Desmoid disease, hereditary;Carcinoma of colon;Familial adenomatous polyposis 1;Neoplasm of stomach;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome 2017-05-23 -0.81 1.6666666666666667 Uncertain significance 0 -186469 Simple 754720030 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -5.4 1.5 Likely benign 0 -186470 Simple 201089102 T . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-05 17.4 0.6 Pathogenic 1 -186471 Simple 150143957 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -1.2 0.5 Uncertain significance 0 -186472 Simple 786202977 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-05-01 -0.51 2.5 Uncertain significance 0 -186473 Simple 786202978 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-03 -8.4 1.3333333333333333 Benign/Likely benign 1 -186475 Simple 778888033 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.2 0.0 Uncertain significance 0 -186476 Simple 749833271 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -186477 Simple 786202982 GTTGTT . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186479 Simple 750460177 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186480 Simple 112589561 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-21 -5.4 2.0 Likely benign 0 -186482 Simple 368666328 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-08 -0.84 1.0 Uncertain significance 0 -186485 Simple 765942523 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-10 -0.87 1.3333333333333333 Uncertain significance 0 -186487 Simple 375165807 G . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -1.2 0.5 Uncertain significance 0 -186489 Simple 786202991 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -186490 Simple 786202992 T . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 -5.4 1.5 Likely benign 0 -186492 Simple 146359682 C . Uncertain significance 2 4 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-16 -1.17 1.0 Uncertain significance 0 -186493 Simple 752314977 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-25 -5.4 2.0 Likely benign 0 -186497 Simple 786202998 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186498 Simple 781537596 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -5.4 1.5 Likely benign 0 -186499 Simple 786203000 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-09 -0.5700000000000001 1.0 Uncertain significance 0 -186501 Simple 751890878 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -186502 Simple 786203003 ATCATC . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-09-15 -0.6 0.0 Uncertain significance 0 -186503 Simple 370226185 T . Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -14.4 1.2 Benign/Likely benign 1 -186504 Simple 147399413 A . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-03 -13.8 1.5 Benign/Likely benign 0 -186505 Simple 373366661 A . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-08 -8.1 2.0 Likely benign 0 -186506 Simple 191872612 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -0.54 2.0 Uncertain significance 0 -186507 Simple 397509194 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186508 Simple 41293487 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186514 Simple 369803831 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-03 -0.6 1.0 Uncertain significance 0 -186515 Simple 786203007 A . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-27 -0.54 1.5 Uncertain significance 0 -186516 Simple 786203008 - . Pathogenic 2 5 Ataxia-telangiectasia syndrome;Breast cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome 2017-07-06 29.4 0.8 Pathogenic 0 -186520 Simple 786203011 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.0 Uncertain significance 0 -186524 Simple 764595220 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186527 Simple 786203017 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-04 -0.81 2.0 Uncertain significance 0 -186528 Simple 201982344 A . Likely benign 2 4 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-07 -11.4 1.25 Benign/Likely benign 1 -186532 Simple 786203020 - . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-03-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -186533 Simple 786203021 A . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-10 -14.4 1.25 Benign/Likely benign 0 -186535 Simple 773674701 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-11-03 -0.5700000000000001 1.5 Uncertain significance 0 -186537 Simple 786203025 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2015-10-16 -7.800000000000001 2.3333333333333335 Likely benign 0 -186538 Simple 772514245 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-29 -0.6 1.0 Uncertain significance 0 -186543 Simple 185057307 T . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.17 0.5 Uncertain significance 0 -186544 Simple 147995863 G . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -8.4 1.3333333333333333 Benign/Likely benign 1 -186545 Simple 140733963 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-12 -5.4 1.5 Likely benign 0 -186546 Simple 786203030 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-16 10.8 1.5 Pathogenic/Likely pathogenic 1 -186547 Simple 373309822 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-02 -8.4 1.6666666666666667 Benign/Likely benign 1 -186550 Simple 749469486 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -0.54 1.5 Uncertain significance 0 -186551 Simple 786203033 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-26 -11.4 1.0 Benign/Likely benign 1 -186553 Simple 766748586 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -186555 Simple 786203037 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186559 Simple 786203040 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -186560 Simple 786203041 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-12 -5.4 2.0 Likely benign 0 -186564 Simple 786203045 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.0 Uncertain significance 0 -186566 Simple 771261665 C . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.5 Uncertain significance 0 -186569 Simple 786203050 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-15 -5.4 2.0 Likely benign 0 -186570 Simple 786203051 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186573 Simple 786203053 CC . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-06-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -186574 Simple 786203054 G . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-06-14 6.0 0.5 Likely pathogenic 0 -186576 Simple 779427628 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-28 17.4 1.0 Pathogenic 0 -186578 Simple 773712266 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-06 -5.4 1.5 Likely benign 0 -186579 Simple 786203059 C . Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-09-21 8.4 1.3333333333333333 Pathogenic/Likely pathogenic 1 -186580 Simple 587782436 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -0.8999999999999999 1.0 Uncertain significance 0 -186581 Simple 587782151 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-15 -0.87 1.0 Uncertain significance 0 -186582 Simple 786203060 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186588 Simple 786203065 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-21 -0.54 1.5 Uncertain significance 0 -186596 Simple 786203073 - . Pathogenic 2 5 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 30.0 0.4 Pathogenic 0 -186597 Simple 786203074 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -186598 Simple 786203075 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-12 -0.54 1.5 Uncertain significance 0 -186600 Simple 786203077 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2016-10-25 -0.84 1.6666666666666667 Uncertain significance 0 -186601 Simple 786203078 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-03 -5.4 2.0 Likely benign 0 -186602 Simple 778585671 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-15 -0.6 0.5 Uncertain significance 0 -186603 Simple 786203080 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-14 -0.8999999999999999 1.0 Uncertain significance 0 -186607 Simple 148653184 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-13 -5.4 2.0 Likely benign 0 -186608 Simple 145513717 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186611 Simple 749061599 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.5 Uncertain significance 0 -186612 Simple 786203086 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-01 -0.51 2.5 Uncertain significance 0 -186614 Simple 775355718 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-23 -5.4 2.0 Likely benign 0 -186616 Simple 149839922 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-01 -0.87 1.3333333333333333 Uncertain significance 0 -186617 Simple 376760085 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-03-28 -1.2 0.75 Uncertain significance 0 -186620 Simple 786203091 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2015-08-28 -5.1 2.5 Likely benign 0 -186621 Simple 786203092 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 0.75 Benign/Likely benign 1 -186622 Simple 550092661 C . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -11.4 1.25 Benign/Likely benign 1 -186623 Simple 751117852 C . Likely benign 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -11.4 1.25 Benign/Likely benign 1 -186627 Simple 201625049 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -186628 Simple 777845659 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-26 -0.54 1.5 Uncertain significance 0 -186631 Simple 786203100 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -186632 Simple 747664806 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.25 Benign/Likely benign 1 -186633 Simple 750813972 T . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.7 1.0 Benign/Likely benign 1 -186634 Simple 786203103 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186635 Simple 786203104 G . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2016-03-03 -0.51 2.5 Uncertain significance 0 -186638 Simple 758691069 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -186645 Simple 778699501 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -1.2 0.5 Uncertain significance 0 -186648 Simple 751513488 T . Likely benign 2 3 Multiple fibrofolliculomas;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -8.4 1.3333333333333333 Benign/Likely benign 1 -186651 Simple 786203115 A . Pathogenic 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-08-29 12.0 1.0 Pathogenic/Likely pathogenic 1 -186652 Simple 786203116 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 -0.87 1.0 Uncertain significance 0 -186655 Simple 786203119 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-07 -11.4 1.25 Benign/Likely benign 1 -186659 Simple 371544233 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-10 -0.54 1.5 Uncertain significance 0 -186660 Simple 786203122 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-04 -11.1 1.25 Benign/Likely benign 1 -186661 Simple 761432927 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.0 Uncertain significance 0 -186662 Simple 758893131 T . Conflicting interpretations of pathogenicity 1 3 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-11-17 -3.54 1.0 Uncertain significance 0 -186663 Simple 786203125 T . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.5 0.8 Uncertain significance 0 -186664 Simple 786203126 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186665 Simple 786203127 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.0 Uncertain significance 0 -186666 Simple 577394398 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-28 -5.4 1.5 Likely benign 0 -186667 Simple 45517215 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-02-23 -0.6 1.0 Uncertain significance 0 -186669 Simple 786203129 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -186670 Simple 780155240 T . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -186671 Simple 786203131 A . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2015-07-06 -0.51 2.5 Uncertain significance 0 -186672 Simple 370209920 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -186673 Simple 786203132 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-01 -0.54 2.0 Uncertain significance 0 -186676 Simple 786203134 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -0.84 1.0 Uncertain significance 0 -186678 Simple 375576430 T . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -186680 Simple 786203137 - . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-07-07 15.0 0.3333333333333333 Pathogenic 1 -186682 Simple 776134250 T . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -1.2 0.0 Uncertain significance 0 -186684 Simple 747363339 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186685 Simple 786203142 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-02-27 -5.1 2.5 Likely benign 0 -186686 Simple 763203404 G . Likely benign 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-12-13 -8.4 1.6666666666666667 Benign/Likely benign 1 -186691 Simple 747837583 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.14 1.0 Uncertain significance 0 -186692 Simple 730881926 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186693 Simple 786203149 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186694 Simple 747700106 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-12-20 -0.51 2.5 Uncertain significance 0 -186696 Simple 61755166 A . Benign/Likely benign 2 6 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-04-16 -22.5 1.5 Benign/Likely benign 0 -186700 Simple 762886975 A . Uncertain significance 2 3 Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-10 -0.8999999999999999 1.0 Uncertain significance 0 -186704 Simple 786203157 G . Pathogenic/Likely pathogenic 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-17 11.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -186706 Simple 786203158 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-26 -0.5700000000000001 1.5 Uncertain significance 0 -186707 Simple 786203159 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-26 -0.5700000000000001 1.5 Uncertain significance 0 -186708 Simple 771631684 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-07 -5.4 2.0 Likely benign 0 -186713 Simple 755009196 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.2 0.0 Uncertain significance 0 -186715 Simple 763847201 G . Uncertain significance 2 2 Lynch syndrome II;Hereditary cancer-predisposing syndrome 2015-12-22 -0.51 2.5 Uncertain significance 0 -186717 Simple 774277300 C . Uncertain significance 2 3 Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186718 Simple 866006 A . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -13.8 1.5 Benign/Likely benign 0 -186719 Simple 759370463 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -1.17 0.5 Uncertain significance 0 -186720 Simple 786203170 A . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-06-26 -1.5 0.8 Uncertain significance 0 -186722 Simple 72541815 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.2 0.25 Uncertain significance 0 -186723 Simple 779701238 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -1.2 0.75 Uncertain significance 0 -186724 Simple 773352404 T . Likely benign 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -11.4 1.25 Benign/Likely benign 1 -186725 Simple 375682557 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -8.4 1.3333333333333333 Benign/Likely benign 1 -186726 Simple 542698396 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-06 -0.6 0.5 Uncertain significance 0 -186729 Simple 200765255 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.17 0.5 Uncertain significance 0 -186732 Simple 786203176 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-22 -0.5700000000000001 1.5 Uncertain significance 0 -186736 Simple 786203180 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-03-07 11.4 1.5 Pathogenic/Likely pathogenic 1 -186738 Simple 763845063 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -186742 Simple 786203183 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-09-27 -0.51 2.5 Uncertain significance 0 -186744 Simple 786203185 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-03 -0.6 0.5 Uncertain significance 0 -186751 Simple 786203192 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.2 0.5 Uncertain significance 0 -186752 Simple 786203193 C . Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -11.4 1.5 Benign/Likely benign 1 -186753 Simple 565124064 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -5.4 1.5 Likely benign 0 -186756 Simple 767699634 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-15 -5.4 1.5 Likely benign 0 -186758 Simple 749310833 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186759 Simple 769712441 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-25 -0.6 0.5 Uncertain significance 0 -186761 Simple 748840480 A . Pathogenic 2 3 Familial cancer of breast;Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-18 18.0 0.6666666666666666 Pathogenic 0 -186762 Simple 749061599 T . Uncertain significance 2 3 Li-Fraumeni syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186764 Simple 771424902 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2016-09-22 -5.4 2.0 Likely benign 0 -186765 Simple 759291615 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-22 -5.4 1.5 Likely benign 0 -186766 Simple 749815703 T . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-30 -5.4 1.5 Likely benign 0 -186767 Simple 555200296 A . Likely benign 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -14.4 1.0 Benign/Likely benign 1 -186769 Simple 786203207 C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.5 Uncertain significance 0 -186770 Simple 770697446 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -8.4 1.3333333333333333 Benign/Likely benign 1 -186771 Simple 377466333 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.5 Uncertain significance 0 -186772 Simple 760321509 A . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -186779 Simple 786203214 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2014-11-17 -0.48 3.0 Uncertain significance 0 -186784 Simple 398122558 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-22 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -186785 Simple 786203218 - . Pathogenic/Likely pathogenic 2 3 Multiple fibrofolliculomas;Pneumothorax, primary spontaneous;not provided;Hereditary cancer-predisposing syndrome 2017-02-03 15.0 1.0 Pathogenic 1 -186786 Simple 541512953 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-24 -0.87 1.3333333333333333 Uncertain significance 0 -186787 Simple 780955025 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186792 Simple 534249104 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-10-21 -0.51 2.5 Uncertain significance 0 -186793 Simple 786203224 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-16 -0.6 0.5 Uncertain significance 0 -186795 Simple 201047375 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-07-09 -0.54 2.0 Uncertain significance 0 -186797 Simple 786203226 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-12-28 -0.87 1.3333333333333333 Uncertain significance 0 -186801 Simple 786203230 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-09 -0.5700000000000001 1.5 Uncertain significance 0 -186802 Simple 375077574 C . Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-06-06 -5.4 1.5 Likely benign 0 -186803 Simple 181695922 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-06-16 -0.6 0.5 Uncertain significance 0 -186807 Simple 200439295 A . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -11.1 1.75 Benign/Likely benign 1 -186808 Simple 786203234 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-09-02 -0.5700000000000001 1.5 Uncertain significance 0 -186811 Simple 778309339 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -186813 Simple 778696237 A . Likely benign 2 3 Cutaneous malignant melanoma 3;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-08-16 -8.4 1.6666666666666667 Benign/Likely benign 1 -186816 Simple 772393149 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-12 -1.2 0.5 Uncertain significance 0 -186817 Simple 786203243 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-06-21 -0.54 2.0 Uncertain significance 0 -186819 Simple 372267274 T . Pathogenic/Likely pathogenic 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-09 15.0 0.3333333333333333 Pathogenic 1 -186820 Simple 786203245 A . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-27 6.0 0.0 Likely pathogenic 0 -186821 Simple 786203246 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-26 -0.6 0.0 Uncertain significance 0 -186822 Simple 143331809 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-17 -8.4 1.3333333333333333 Benign/Likely benign 1 -186823 Simple 786203247 - . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-03 -0.54 2.0 Uncertain significance 0 -186824 Simple 786203248 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-01-25 -0.51 2.5 Uncertain significance 0 -186826 Simple 786203250 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.5 Uncertain significance 0 -186827 Simple 786203251 A . Pathogenic 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2016-12-01 12.0 1.0 Pathogenic/Likely pathogenic 1 -186828 Simple 143026267 C . Uncertain significance 2 7 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-05-03 -2.04 0.7142857142857143 Uncertain significance 0 -186831 Simple 786203254 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-22 -8.1 2.0 Likely benign 0 -186833 Simple 757741943 C . Likely benign 2 3 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-03 -8.1 1.6666666666666667 Likely benign 0 -186834 Simple 781539071 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-10 -8.4 1.3333333333333333 Benign/Likely benign 1 -186835 Simple 786203258 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-15 -0.6 0.0 Uncertain significance 0 -186837 Simple 786203260 G . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-09 -8.1 1.6666666666666667 Likely benign 0 -186838 Simple 786203261 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-02-27 -0.48 3.0 Uncertain significance 0 -186839 Simple 145987906 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-31 -5.4 2.0 Likely benign 0 -186840 Simple 773831304 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -1.2 0.25 Uncertain significance 0 -186841 Simple 146167034 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -13.8 1.25 Benign/Likely benign 0 -186843 Simple 766904735 A . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -0.87 1.0 Uncertain significance 0 -186845 Simple 781482219 C . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -11.4 0.75 Benign/Likely benign 1 -186849 Simple 767371843 A . Uncertain significance 2 3 Lynch syndrome I;Turcot syndrome;Muir-Torré syndrome;Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 -0.81 1.6666666666666667 Uncertain significance 0 -186850 Simple 770279083 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -186855 Simple 772591447 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-15 -0.84 1.6666666666666667 Uncertain significance 0 -186856 Simple 760602228 T . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -11.1 1.5 Benign/Likely benign 1 -186858 Simple 786203278 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-10 -0.54 2.0 Uncertain significance 0 -186862 Simple 776227830 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.0 Uncertain significance 0 -186864 Simple 786203283 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-28 -0.6 0.5 Uncertain significance 0 -186867 Simple 3092831 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -186868 Simple 149827260 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -1.2 0.25 Uncertain significance 0 -186869 Simple 768866006 C . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -11.4 1.25 Benign/Likely benign 1 -186872 Simple 566630862 G . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-12 -5.4 1.5 Likely benign 0 -186874 Simple 786203290 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -5.4 1.5 Likely benign 0 -186875 Simple 373322226 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-18 -11.4 1.0 Benign/Likely benign 1 -186879 Simple 80359789 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.6 Benign/Likely benign 1 -186881 Simple 397507197 AA . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -186882 Simple 781780543 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-03 -5.4 1.5 Likely benign 0 -186883 Simple 779946576 C . Uncertain significance 2 3 not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-11 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -186884 Simple 368595543 A . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.87 0.6666666666666666 Uncertain significance 0 -186885 Simple 786203296 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-12-06 -0.87 1.3333333333333333 Uncertain significance 0 -186886 Simple 760362870 C . Likely benign 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-09 -11.1 1.5 Benign/Likely benign 1 -186888 Simple 786203299 C . Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-05-19 -11.4 1.0 Benign/Likely benign 1 -186889 Simple 752114814 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-31 -0.8999999999999999 0.0 Uncertain significance 0 -186891 Simple 755440956 A . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-06 -8.1 1.6666666666666667 Likely benign 0 -186894 Simple 767530768 A . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-03-18 -8.4 1.6666666666666667 Benign/Likely benign 1 -186895 Simple 786203306 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-12 -0.54 2.0 Uncertain significance 0 -186896 Simple 786203307 T . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-28 10.8 1.5 Pathogenic/Likely pathogenic 1 -186898 Simple 786203309 G . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-18 15.0 0.3333333333333333 Pathogenic 1 -186900 Simple 72552323 G . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.47 0.8 Uncertain significance 0 -186901 Simple 587779821 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-09 -0.54 1.5 Uncertain significance 0 -186903 Simple 544503598 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-06-14 -0.6 1.0 Uncertain significance 0 -186904 Simple 786203311 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -1.2 0.0 Uncertain significance 0 -186910 Simple 786203316 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.54 1.5 Uncertain significance 0 -186911 Simple 750040616 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -186912 Simple 786203318 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 26.4 2.4 Pathogenic 0 -186916 Simple 145732909 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-26 -5.4 1.5 Likely benign 0 -186917 Simple 750929369 G . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-09-28 -0.6 0.0 Uncertain significance 0 -186918 Simple 772052262 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-26 -0.54 2.0 Uncertain significance 0 -186920 Simple 144944814 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-17 -0.87 1.0 Uncertain significance 0 -186921 Simple 786203325 - . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-05-27 -0.51 2.5 Uncertain significance 0 -186923 Simple 762860946 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-02-10 -4.8 3.0 Likely benign 0 -186924 Simple 775784158 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-01 -0.6 0.5 Uncertain significance 0 -186927 Simple 786203329 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -186928 Simple 755749772 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-28 -0.5700000000000001 1.5 Uncertain significance 0 -186930 Simple 786203332 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-13 -0.54 2.0 Uncertain significance 0 -186933 Simple 139701369 A . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -186934 Simple 786203335 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-12 -5.4 1.5 Likely benign 0 -186935 Simple 786203336 A . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -11.1 1.25 Benign/Likely benign 1 -186937 Simple 187862045 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-12-14 -0.6 1.0 Uncertain significance 0 -186939 Simple 786203339 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-15 -0.54 2.0 Uncertain significance 0 -186940 Simple 786203340 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -186941 Simple 786203341 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-18 -0.51 2.5 Uncertain significance 0 -186942 Simple 786203342 T . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-13 -5.4 2.0 Likely benign 0 -186945 Simple 370612538 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-11 -1.2 0.0 Uncertain significance 0 -186946 Simple 786203345 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -186947 Simple 397514999 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -13.8 1.6666666666666667 Benign/Likely benign 0 -186948 Simple 147923905 G . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-01-05 -0.8999999999999999 1.0 Uncertain significance 0 -186956 Simple 762171436 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186957 Simple 786203352 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-01 -0.6 1.0 Uncertain significance 0 -186963 Simple 786203358 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-03 -0.51 2.5 Uncertain significance 0 -186964 Simple 786203359 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -186966 Simple 786203361 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -1.17 0.75 Uncertain significance 0 -186968 Simple 786203363 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-11 -5.4 1.5 Likely benign 0 -186969 Simple 786203364 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-21 -8.4 1.0 Benign/Likely benign 1 -186970 Simple 776513888 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-06-05 -5.4 2.0 Likely benign 0 -186972 Simple 786203367 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2015-12-16 -0.51 2.5 Uncertain significance 0 -186973 Simple 779148780 A . Uncertain significance 2 4 Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -1.2 0.25 Uncertain significance 0 -186974 Simple 786203369 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-04 -0.54 2.0 Uncertain significance 0 -186975 Simple 786203370 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-07-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -186977 Simple 786203372 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-15 -0.5700000000000001 1.5 Uncertain significance 0 -186978 Simple 776396492 A . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-31 -8.4 1.3333333333333333 Benign/Likely benign 1 -186981 Simple 746631156 G . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -1.5 0.8 Uncertain significance 0 -186982 Simple 759680369 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-10 -5.4 1.5 Likely benign 0 -186983 Simple 786203378 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -186984 Simple 575325950 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -8.4 1.3333333333333333 Benign/Likely benign 1 -186985 Simple 786203379 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -186986 Simple 371773406 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-03 -0.5700000000000001 1.0 Uncertain significance 0 -186988 Simple 786203380 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-10-11 -0.8999999999999999 1.0 Uncertain significance 0 -186989 Simple 761405340 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -186992 Simple 786203384 GGA . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-12 24.0 0.75 Pathogenic 0 -186994 Simple 786203386 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-17 -0.51 2.5 Uncertain significance 0 -186996 Simple 749179034 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-14 -5.4 1.5 Likely benign 0 -186997 Simple 786203389 - . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.25 Uncertain significance 0 -186999 Simple 786203391 - . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-12 -0.87 1.0 Uncertain significance 0 -187001 Simple 786203392 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-25 -5.4 1.5 Likely benign 0 -187003 Simple 786203394 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-05-12 -0.5700000000000001 1.5 Uncertain significance 0 -187007 Simple 767500770 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-29 -0.54 2.0 Uncertain significance 0 -187010 Simple 786203401 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-17 -5.4 2.0 Likely benign 0 -187011 Simple 770003991 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -1.44 1.0 Uncertain significance 0 -187013 Simple 786203404 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187016 Simple 369115472 G . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2016-08-19 -0.6 1.0 Uncertain significance 0 -187018 Simple 786203408 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-24 -0.54 2.0 Uncertain significance 0 -187019 Simple 77642085 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-06-20 -0.6 1.0 Uncertain significance 0 -187026 Simple 786203415 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -8.4 1.3333333333333333 Benign/Likely benign 1 -187027 Simple 786203416 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-29 -0.5700000000000001 1.0 Uncertain significance 0 -187028 Simple 148760338 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-27 -0.87 1.0 Uncertain significance 0 -187030 Simple 780241203 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-30 -0.8999999999999999 0.0 Uncertain significance 0 -187034 Simple 749383704 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -0.6 0.5 Uncertain significance 0 -187035 Simple 786203421 - . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 14.7 1.0 Pathogenic/Likely pathogenic 0 -187046 Simple 786203430 GAAAGAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187047 Simple 786203431 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187048 Simple 786203432 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -187049 Simple 786203433 AG . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -187050 Simple 786203434 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-10-31 -0.84 1.3333333333333333 Uncertain significance 0 -187054 Simple 80357434 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-31 -0.54 2.0 Uncertain significance 0 -187055 Simple 786203438 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -187056 Simple 143235330 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -187057 Simple 786203439 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187059 Simple 786203441 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -187060 Simple 17174393 C . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-01 17.4 1.0 Pathogenic 0 -187061 Simple 373170458 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-08-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -187066 Simple 786203445 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-10-26 -5.4 2.0 Likely benign 0 -187069 Simple 786203448 T . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-04-01 10.2 2.5 Pathogenic/Likely pathogenic 1 -187070 Simple 786203449 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-01 -0.5700000000000001 1.5 Uncertain significance 0 -187071 Simple 374597395 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-10 -6.0 1.0 Likely benign 0 -187076 Simple 752351454 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-14 -0.51 2.5 Uncertain significance 0 -187077 Simple 376824528 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-03 -1.2 0.0 Uncertain significance 0 -187079 Simple 145504336 T . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-27 -8.1 1.6666666666666667 Likely benign 0 -187084 Simple 786203457 G . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-07-26 6.0 0.0 Likely pathogenic 0 -187085 Simple 786203458 - . Pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-22 30.0 0.6 Pathogenic 0 -187086 Simple 759069006 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-15 -5.1 2.5 Likely benign 0 -187088 Simple 766067138 C . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.5 1.8333333333333333 Benign/Likely benign 1 -187089 Simple 786203462 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -187091 Simple 748636216 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -1.5 0.6 Uncertain significance 0 -187093 Simple 779053608 A . Likely benign 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-04-01 -8.1 1.6666666666666667 Likely benign 0 -187098 Simple 368503108 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-30 -5.4 1.5 Likely benign 0 -187099 Simple 786203470 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-01-23 -0.54 2.0 Uncertain significance 0 -187101 Simple 786203472 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-15 -0.6 0.0 Uncertain significance 0 -187103 Simple 193096019 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -1.2 0.5 Uncertain significance 0 -187110 Simple 786203480 G . Likely benign 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-26 -8.4 1.6666666666666667 Benign/Likely benign 1 -187111 Simple 775417240 - . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-08 -0.6 1.0 Uncertain significance 0 -187112 Simple 786203482 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -187115 Simple 587782257 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -5.4 1.5 Likely benign 0 -187117 Simple 786203485 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-03-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -187119 Simple 758962678 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -1.2 0.25 Uncertain significance 0 -187121 Simple 786203489 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-10 12.0 0.0 Pathogenic/Likely pathogenic 1 -187122 Simple 786203490 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -0.84 1.0 Uncertain significance 0 -187125 Simple 786203492 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -187126 Simple 786203493 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -0.54 1.5 Uncertain significance 0 -187127 Simple 786203494 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187128 Simple 149772796 G . Likely benign 2 4 PTEN hamartoma tumor syndrome;Cowden syndrome 1;Hereditary cancer-predisposing syndrome 2017-06-12 -11.4 1.25 Benign/Likely benign 1 -187129 Simple 397507282 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -187130 Simple 786203495 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -187133 Simple 786203498 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.87 1.0 Uncertain significance 0 -187134 Simple 139233015 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -187142 Simple 373298267 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -1.2 0.75 Uncertain significance 0 -187143 Simple 768490475 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187149 Simple 147264215 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.2 0.25 Uncertain significance 0 -187154 Simple 760391254 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-22 -0.5700000000000001 1.0 Uncertain significance 0 -187158 Simple 772527201 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-05-03 -0.5700000000000001 1.5 Uncertain significance 0 -187162 Simple 746381477 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -0.8999999999999999 0.0 Uncertain significance 0 -187164 Simple 786203521 TT . Pathogenic 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -187165 Simple 786203522 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -8.4 1.3333333333333333 Benign/Likely benign 1 -187169 Simple 730882165 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187173 Simple 202082319 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-02-16 -0.6 1.0 Uncertain significance 0 -187175 Simple 370318597 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-11 -0.6 0.5 Uncertain significance 0 -187176 Simple 555404867 A . Likely benign 2 5 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-07-19 -14.4 1.2 Benign/Likely benign 1 -187178 Simple 587781352 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187179 Simple 786203530 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.5 Uncertain significance 0 -187185 Simple 786203536 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187186 Simple 786203537 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187189 Simple 786203540 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-13 -0.8999999999999999 0.0 Uncertain significance 0 -187190 Simple 63750534 T . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-16 -1.1400000000000001 1.5 Uncertain significance 0 -187191 Simple 142839559 A . Benign/Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -11.4 1.3333333333333333 Benign/Likely benign 0 -187192 Simple 63750685 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-22 -8.4 1.0 Benign/Likely benign 1 -187193 Simple 374380262 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-30 -0.54 2.0 Uncertain significance 0 -187194 Simple 63750732 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-21 -1.2 0.5 Uncertain significance 0 -187196 Simple 786203542 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-18 -0.54 1.5 Uncertain significance 0 -187200 Simple 786203546 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187203 Simple 747149179 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -187205 Simple 760550772 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -187207 Simple 762083530 T . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 24.0 0.5 Pathogenic 0 -187208 Simple 786203553 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-19 -0.5700000000000001 1.5 Uncertain significance 0 -187210 Simple 145859791 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.0 Uncertain significance 0 -187211 Simple 779562531 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-15 -1.17 0.5 Uncertain significance 0 -187213 Simple 730881359 C . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-20 7.8 2.0 Likely pathogenic 1 -187215 Simple 786203558 - . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-07 -0.54 1.5 Uncertain significance 0 -187216 Simple 786203559 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -5.4 1.5 Likely benign 0 -187217 Simple 786203560 AA . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-22 11.4 1.5 Pathogenic/Likely pathogenic 1 -187218 Simple 786203561 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.17 0.5 Uncertain significance 0 -187221 Simple 143009528 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-09 -0.6 1.0 Uncertain significance 0 -187222 Simple 786203563 C . Likely benign 2 2 Li-Fraumeni syndrome 1;Hereditary cancer-predisposing syndrome 2015-12-16 -5.1 2.5 Likely benign 0 -187223 Simple 80356922 T . Benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -187225 Simple 770250516 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -1.2 0.5 Uncertain significance 0 -187226 Simple 543387071 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-02 -0.6 1.0 Uncertain significance 0 -187227 Simple 786203565 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187230 Simple 528535500 A . Benign/Likely benign 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -16.8 1.4 Benign/Likely benign 0 -187236 Simple 786203573 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-12-14 -0.6 1.0 Uncertain significance 0 -187237 Simple 757822582 - . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-06-02 -0.5700000000000001 1.5 Uncertain significance 0 -187238 Simple 786203575 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -187241 Simple 786203578 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-03 -0.87 1.3333333333333333 Uncertain significance 0 -187245 Simple 558819788 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -187246 Simple 773600818 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.0 Uncertain significance 0 -187247 Simple 786203583 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-17 -1.17 0.5 Uncertain significance 0 -187251 Simple 786203587 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -187252 Simple 370852681 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-08 -0.54 2.0 Uncertain significance 0 -187253 Simple 777925486 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -8.4 1.3333333333333333 Benign/Likely benign 1 -187256 Simple 786203591 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.8 1.4 Benign/Likely benign 1 -187257 Simple 786203592 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187258 Simple 786203593 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187259 Simple 786203594 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187260 Simple 786203595 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-28 -8.4 1.6666666666666667 Benign/Likely benign 1 -187265 Simple 754395517 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.2 0.5 Uncertain significance 0 -187266 Simple 267608051 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-08-22 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -187267 Simple 786203599 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.5 Uncertain significance 0 -187268 Simple 786203600 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187271 Simple 786203603 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-24 -8.4 1.3333333333333333 Benign/Likely benign 1 -187272 Simple 372266620 C . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-11-25 -0.81 2.0 Uncertain significance 0 -187275 Simple 786203606 C . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-16 20.4 0.75 Pathogenic 1 -187277 Simple 527964137 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -187278 Simple 786203608 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -187279 Simple 199641124 C . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.5 Uncertain significance 0 -187280 Simple 747993448 A . Pathogenic/Likely pathogenic 2 4 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-09-14 21.0 0.25 Pathogenic 1 -187285 Simple 786203613 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-05-03 -5.4 2.0 Likely benign 0 -187291 Simple 786203618 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187292 Simple 786203619 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-06 -0.87 0.6666666666666666 Uncertain significance 0 -187294 Simple 786203620 G . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-12-02 -8.1 2.0 Likely benign 0 -187300 Simple 756744016 T . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -0.87 1.0 Uncertain significance 0 -187306 Simple 779625900 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-06 -0.5700000000000001 1.5 Uncertain significance 0 -187307 Simple 757536610 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-19 -5.4 1.5 Likely benign 0 -187309 Simple 786203632 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-09-11 -0.54 2.0 Uncertain significance 0 -187310 Simple 587779953 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-01 -1.2 0.25 Uncertain significance 0 -187311 Simple 786203633 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-11-28 -8.4 1.6666666666666667 Benign/Likely benign 1 -187314 Simple 200009601 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.2 0.5 Uncertain significance 0 -187316 Simple 786203635 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-11 -0.54 2.0 Uncertain significance 0 -187317 Simple 369870357 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187318 Simple 779997419 A . Uncertain significance 2 5 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -1.5 0.6 Uncertain significance 0 -187319 Simple 786203637 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187322 Simple 786203640 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.0 Uncertain significance 0 -187328 Simple 750479232 A . Likely benign 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-01-24 -8.1 2.0 Likely benign 0 -187332 Simple 758063640 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-30 -0.54 1.5 Uncertain significance 0 -187333 Simple 767802663 T . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 3;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.5 Uncertain significance 0 -187334 Simple 786203650 A . Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-04-07 11.7 1.0 Pathogenic/Likely pathogenic 1 -187337 Simple 755687834 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-31 -5.4 1.5 Likely benign 0 -187340 Simple 786203656 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-15 -0.54 1.5 Uncertain significance 0 -187342 Simple 3218688 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -0.87 0.6666666666666666 Uncertain significance 0 -187344 Simple 149736402 A . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-04 -8.4 1.3333333333333333 Benign/Likely benign 1 -187345 Simple 786203659 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -187346 Simple 786203660 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 23.4 1.5 Pathogenic 0 -187349 Simple 786203663 TCACT . Pathogenic 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-31 23.4 1.0 Pathogenic 0 -187350 Simple 189522993 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-10 -0.54 1.5 Uncertain significance 0 -187352 Simple 786203664 - . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-21 -0.5700000000000001 1.0 Uncertain significance 0 -187354 Simple 754364718 A . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -187358 Simple 773301485 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-19 -0.5700000000000001 1.0 Uncertain significance 0 -187359 Simple 786203671 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -187362 Simple 786203674 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -187363 Simple 748793974 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.0 Uncertain significance 0 -187366 Simple 786203678 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-20 -0.6 1.0 Uncertain significance 0 -187367 Simple 786203679 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-12-25 -5.1 2.5 Likely benign 0 -187368 Simple 786203680 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187369 Simple 764735061 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-28 -5.4 2.0 Likely benign 0 -187375 Simple 367823201 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187377 Simple 138186428 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -0.54 2.0 Uncertain significance 0 -187379 Simple 763009188 - . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2016-11-25 23.4 1.2 Pathogenic 1 -187382 Simple 786203690 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187384 Simple 781243845 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-02 -0.51 2.5 Uncertain significance 0 -187386 Simple 786203694 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -187389 Simple 63750292 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-05 -0.6 0.0 Uncertain significance 0 -187390 Simple 786203696 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-02 -0.87 1.3333333333333333 Uncertain significance 0 -187391 Simple 786203697 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-26 -0.6 1.0 Uncertain significance 0 -187395 Simple 786203699 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-10 -0.54 2.0 Uncertain significance 0 -187396 Simple 786203700 C . Likely pathogenic 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2017-04-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -187403 Simple 786203707 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.8 Benign/Likely benign 1 -187408 Simple 577542506 C . Likely benign 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2016-08-11 -8.1 2.0 Likely benign 0 -187411 Simple 748073091 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -0.84 1.3333333333333333 Uncertain significance 0 -187416 Simple 786203717 - . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-05-17 21.0 0.75 Pathogenic 1 -187419 Simple 369925993 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -187420 Simple 786203720 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187422 Simple 786203721 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-14 -0.6 0.0 Uncertain significance 0 -187425 Simple 748553134 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-29 -1.2 0.25 Uncertain significance 0 -187426 Simple 786203725 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-20 -5.1 2.5 Likely benign 0 -187428 Simple 786203726 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-08-19 -8.1 2.0 Likely benign 0 -187430 Simple 786203728 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-15 -8.4 1.0 Benign/Likely benign 1 -187433 Simple 371944271 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-01 -0.8999999999999999 0.0 Uncertain significance 0 -187434 Simple 751249843 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.17 0.5 Uncertain significance 0 -187436 Simple 786203732 A . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-30 -1.05 2.25 Uncertain significance 0 -187437 Simple 547590567 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-06 -0.54 1.5 Uncertain significance 0 -187441 Simple 201132221 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.0 Uncertain significance 0 -187444 Simple 587781327 - . Pathogenic 2 3 Hereditary cancer-predisposing syndrome 2015-12-16 13.8 3.3333333333333335 Pathogenic/Likely pathogenic 1 -187447 Simple 753148077 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -187452 Simple 786203745 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-06-25 -0.51 2.5 Uncertain significance 0 -187454 Simple 786203747 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-03-31 -0.5700000000000001 1.5 Uncertain significance 0 -187455 Simple 369946779 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-08-22 -0.54 2.0 Uncertain significance 0 -187456 Simple 754404223 A . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -11.4 0.75 Benign/Likely benign 1 -187457 Simple 786203749 A . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -1.14 1.0 Uncertain significance 0 -187459 Simple 768488890 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-23 -8.4 1.3333333333333333 Benign/Likely benign 1 -187460 Simple 761812531 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-17 -0.51 2.5 Uncertain significance 0 -187461 Simple 369940136 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-12 -5.4 1.5 Likely benign 0 -187462 Simple 375261439 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187463 Simple 377475866 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -0.87 1.0 Uncertain significance 0 -187464 Simple 786203752 - . Pathogenic 2 3 Hereditary diffuse gastric cancer;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 17.4 1.0 Pathogenic 0 -187466 Simple 786203754 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -187467 Simple 786203755 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.87 1.0 Uncertain significance 0 -187469 Simple 786203756 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-14 -0.84 1.3333333333333333 Uncertain significance 0 -187471 Simple 770625733 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -1.2 0.5 Uncertain significance 0 -187473 Simple 786203760 - . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-14 16.8 1.0 Pathogenic 0 -187474 Simple 786203761 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187476 Simple 775537066 AA . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-27 24.0 0.25 Pathogenic 0 -187478 Simple 786203764 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.5700000000000001 1.0 Uncertain significance 0 -187479 Simple 786203765 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-21 -0.54 2.0 Uncertain significance 0 -187481 Simple 786203767 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -0.6 0.0 Uncertain significance 0 -187484 Simple 786203769 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-10 -0.6 0.5 Uncertain significance 0 -187485 Simple 768239149 G . Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -11.4 1.0 Benign/Likely benign 1 -187487 Simple 786203771 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-11-08 -0.87 0.6666666666666666 Uncertain significance 0 -187488 Simple 786203772 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-31 -0.51 2.5 Uncertain significance 0 -187489 Simple 200513014 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-16 -0.54 2.0 Uncertain significance 0 -187492 Simple 786203775 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2016-10-14 18.0 1.0 Pathogenic 0 -187496 Simple 376447070 A . Benign/Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-06-26 -8.4 2.0 Benign/Likely benign 0 -187498 Simple 777716061 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-08-18 -0.6 0.5 Uncertain significance 0 -187502 Simple 760619442 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-09-01 -8.4 1.6666666666666667 Benign/Likely benign 1 -187505 Simple 377640390 T . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.5 0.4 Uncertain significance 0 -187506 Simple 786203787 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-12-05 -5.4 2.0 Likely benign 0 -187508 Simple 745612549 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-17 -0.54 2.0 Uncertain significance 0 -187514 Simple 372297364 A . Uncertain significance 2 6 Hereditary nonpolyposis colorectal cancer type 4;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-12 -1.77 0.5 Uncertain significance 0 -187516 Simple 267608083 AA . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-18 11.4 1.0 Pathogenic/Likely pathogenic 1 -187517 Simple 142867979 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-30 -0.54 1.5 Uncertain significance 0 -187518 Simple 63750398 A . Uncertain significance 3 3 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2016-04-20 5.37 1.0 Likely pathogenic 2 -187522 Simple 786203797 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -0.54 1.5 Uncertain significance 0 -187526 Simple 3218675 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -187531 Simple 786203804 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -187535 Simple 541543215 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-02-18 -0.54 2.0 Uncertain significance 0 -187539 Simple 574008372 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 0.75 Benign/Likely benign 1 -187540 Simple 748927376 A . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -1.5 0.4 Uncertain significance 0 -187541 Simple 116094787 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-23 -11.1 1.75 Benign/Likely benign 1 -187546 Simple 786203814 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-24 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -187547 Simple 786203815 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -0.84 1.0 Uncertain significance 0 -187548 Simple 148214481 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-01 -5.4 1.5 Likely benign 0 -187549 Simple 376861118 T . Likely benign 2 4 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-18 -11.1 1.5 Benign/Likely benign 1 -187550 Simple 786203816 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -1.17 0.75 Uncertain significance 0 -187551 Simple 76744638 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -1.2 0.25 Uncertain significance 0 -187552 Simple 786203817 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-03-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -187554 Simple 786203819 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-16 -5.4 1.5 Likely benign 0 -187555 Simple 786203820 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -5.4 1.5 Likely benign 0 -187556 Simple 730881348 A . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-20 17.4 0.6666666666666666 Pathogenic 0 -187557 Simple 786203821 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-19 18.0 0.0 Pathogenic 0 -187562 Simple 774415723 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -187563 Simple 756817252 C . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -1.17 1.0 Uncertain significance 0 -187565 Simple 764248927 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-18 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -187568 Simple 371568610 G . Likely benign 2 6 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-22 -17.1 1.1666666666666667 Benign/Likely benign 1 -187570 Simple 750327994 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-11 -0.54 1.5 Uncertain significance 0 -187571 Simple 771577266 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187572 Simple 587782176 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-17 -0.8999999999999999 0.0 Uncertain significance 0 -187579 Simple 786203839 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-17 -0.6 0.5 Uncertain significance 0 -187580 Simple 747516635 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -187581 Simple 56331088 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 0.75 Benign/Likely benign 1 -187582 Simple 754836679 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.84 1.3333333333333333 Uncertain significance 0 -187585 Simple 786203843 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187586 Simple 777491912 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -187587 Simple 786203845 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187589 Simple 81002826 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.1 1.75 Benign/Likely benign 1 -187590 Simple 786203847 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2014-12-25 9.6 3.0 Pathogenic/Likely pathogenic 1 -187593 Simple 786203849 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-26 -0.54 2.0 Uncertain significance 0 -187594 Simple 786203850 C . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-18 -0.8999999999999999 1.0 Uncertain significance 0 -187597 Simple 786203853 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187604 Simple 786203858 G . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-10-14 -0.78 2.3333333333333335 Uncertain significance 0 -187605 Simple 148270248 A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187606 Simple 544891616 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-11 -0.8999999999999999 0.0 Uncertain significance 0 -187608 Simple 63750844 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-08 -5.4 1.5 Likely benign 0 -187612 Simple 768922431 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -187613 Simple 769142993 C . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-13 6.0 0.0 Likely pathogenic 0 -187615 Simple 786203866 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-27 -5.4 1.5 Likely benign 0 -187617 Simple 786203868 A . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.24 1.3333333333333333 Benign/Likely benign 1 -187618 Simple 764124442 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -187620 Simple 371526361 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-16 -0.8999999999999999 1.0 Uncertain significance 0 -187622 Simple 549559726 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.0 Uncertain significance 0 -187627 Simple 750441954 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.17 1.0 Uncertain significance 0 -187628 Simple 759295912 T . Uncertain significance 2 4 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-12 -1.2 0.75 Uncertain significance 0 -187629 Simple 786203878 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-04 -0.51 2.5 Uncertain significance 0 -187632 Simple 786203881 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-25 -0.54 1.5 Uncertain significance 0 -187633 Simple 200857129 A . Uncertain significance 2 6 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -1.7999999999999998 0.6666666666666666 Uncertain significance 0 -187634 Simple 774993357 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -13.8 1.25 Benign/Likely benign 0 -187637 Simple 786203884 C . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.2 2.0 Pathogenic 0 -187638 Simple 786203885 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-03-19 -5.4 1.5 Likely benign 0 -187641 Simple 786203887 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187645 Simple 571340013 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -1.17 0.5 Uncertain significance 0 -187647 Simple 786203892 - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-28 10.8 1.5 Pathogenic/Likely pathogenic 1 -187650 Simple 786203894 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-10 -8.4 1.3333333333333333 Benign/Likely benign 1 -187657 Simple 371387815 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-09 10.8 2.0 Pathogenic/Likely pathogenic 1 -187659 Simple 786203902 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -8.4 1.3333333333333333 Benign/Likely benign 1 -187660 Simple 773177076 G . Uncertain significance 2 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2015-12-10 -0.51 2.5 Uncertain significance 0 -187661 Simple 566630862 C . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -11.4 1.0 Benign/Likely benign 1 -187664 Simple 746138566 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-19 -0.84 1.3333333333333333 Uncertain significance 0 -187667 Simple 143198946 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-28 -0.6 1.0 Uncertain significance 0 -187669 Simple 773340677 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -1.17 0.75 Uncertain significance 0 -187670 Simple 773047090 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.0 Uncertain significance 0 -187673 Simple 786203911 T . Uncertain significance 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.17 0.75 Uncertain significance 0 -187674 Simple 368383907 A . Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-04 -11.4 1.25 Benign/Likely benign 1 -187679 Simple 786203916 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-07 -0.54 1.5 Uncertain significance 0 -187685 Simple 137966859 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-02 -0.5700000000000001 1.0 Uncertain significance 0 -187688 Simple 766351395 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-12 -0.84 1.3333333333333333 Uncertain significance 0 -187692 Simple 756727559 C . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -187694 Simple 761494650 A . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-05-27 25.2 1.4 Pathogenic 1 -187699 Simple 786203931 GG . Pathogenic 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-02-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -187700 Simple 786203932 A . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-31 5.7 1.5 Likely pathogenic 0 -187701 Simple 773256580 T . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Hereditary cancer-predisposing syndrome 2016-08-04 -0.8999999999999999 1.0 Uncertain significance 0 -187702 Simple 762396230 C . Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-06 -11.1 1.75 Benign/Likely benign 1 -187704 Simple 769813736 T . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -11.4 1.0 Benign/Likely benign 1 -187705 Simple 786203937 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-03 -0.54 2.0 Uncertain significance 0 -187706 Simple 786203938 C . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-21 -0.54 1.5 Uncertain significance 0 -187707 Simple 786203939 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-22 -0.54 1.5 Uncertain significance 0 -187709 Simple 754213041 T . Likely benign 2 2 Gastrointestinal stromal tumor;Paragangliomas 3;Hereditary cancer-predisposing syndrome 2016-10-04 -5.4 2.0 Likely benign 0 -187714 Simple 72661118 T . Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -11.1 1.5 Benign/Likely benign 1 -187716 Simple 786203945 - . Pathogenic 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-11-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -187718 Simple 567785169 T . Uncertain significance 2 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-29 -1.7999999999999998 0.5 Uncertain significance 0 -187721 Simple 776655838 C . Benign 3 6 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -15.6 1.0 Benign/Likely benign 1 -187722 Simple 786203950 T . Pathogenic 2 5 Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-09-18 28.8 0.8 Pathogenic 0 -187723 Simple 758567247 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.2 0.5 Uncertain significance 0 -187728 Simple 761612343 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -187729 Simple 368492235 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-08-07 -0.51 2.5 Uncertain significance 0 -187730 Simple 771246748 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-06-05 -0.6 1.0 Uncertain significance 0 -187731 Simple 562153754 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-10-13 -0.6 0.0 Uncertain significance 0 -187732 Simple 786203958 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -187733 Simple 749204990 C . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-24 -11.4 0.75 Benign/Likely benign 1 -187736 Simple 779114598 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-19 -5.4 1.5 Likely benign 0 -187740 Simple 397507634 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 1.0 Pathogenic 0 -187743 Simple 750448069 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-26 -8.4 1.0 Benign/Likely benign 1 -187744 Simple 4987048 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-08 -0.5700000000000001 1.5 Uncertain significance 0 -187745 Simple 786203967 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-10-12 -0.6 0.5 Uncertain significance 0 -187748 Simple 201235884 C . Benign/Likely benign 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -13.8 1.5 Benign/Likely benign 0 -187752 Simple 786203973 T . Uncertain significance 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-07 -1.1099999999999999 1.0 Uncertain significance 0 -187754 Simple 377665107 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -1.2 0.25 Uncertain significance 0 -187760 Simple 786203980 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.1 1.75 Benign/Likely benign 1 -187761 Simple 142383077 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-31 -0.5700000000000001 1.5 Uncertain significance 0 -187763 Simple 786203982 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -187785 Simple 144078282 C . Pathogenic/Likely pathogenic 2 2 not provided;3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2017-10-05 8.4 1.0 Pathogenic/Likely pathogenic 0 -188062 Simple 764921920 C . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -1.17 1.0 Uncertain significance 0 -188063 Simple 786204043 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-05-30 -0.6 0.5 Uncertain significance 0 -188068 Simple 572906317 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-16 -0.87 1.0 Uncertain significance 0 -188072 Simple 786204049 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-08-09 -0.54 2.0 Uncertain significance 0 -188076 Simple 776110440 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-09 -0.6 1.0 Uncertain significance 0 -188078 Simple 758298916 C . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2 2016-10-27 -0.87 1.3333333333333333 Uncertain significance 0 -188079 Simple 587780080 C . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-18 -0.81 1.6666666666666667 Uncertain significance 0 -188080 Simple 140782270 T . Uncertain significance 2 3 Primary ciliary dyskinesia;not specified 2017-07-24 -0.78 2.0 Uncertain significance 0 -188085 Simple 746481984 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -188090 Simple 786204062 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-09-18 -0.51 2.5 Uncertain significance 0 -188096 Simple 537258442 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.5 Uncertain significance 0 -188097 Simple 587781558 C . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-11 18.0 0.5 Pathogenic 1 -188099 Simple 750112288 A . Benign/Likely benign 2 3 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-08-04 -11.7 0.6666666666666666 Benign/Likely benign 0 -188100 Simple 2230310 T . Benign/Likely benign 2 6 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-11-09 -23.4 0.8333333333333334 Benign/Likely benign 0 -188107 Simple 786204071 A . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-09 -0.87 0.6666666666666666 Uncertain significance 0 -188108 Simple 758884639 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -188110 Simple 745773225 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -1.14 1.25 Uncertain significance 0 -188111 Simple 778430688 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2016-12-15 -0.54 2.0 Uncertain significance 0 -188112 Simple 763344951 T . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.5 Uncertain significance 0 -188113 Simple 756099600 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-14 -0.6 0.0 Uncertain significance 0 -188119 Simple 786204082 A . Pathogenic/Likely pathogenic 2 3 Lynch syndrome I;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 12.0 0.3333333333333333 Pathogenic/Likely pathogenic 0 -188122 Simple 786204085 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-23 -0.5700000000000001 1.0 Uncertain significance 0 -188123 Simple 786204086 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2016-08-04 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -188125 Simple 786204088 A . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome 2016-11-01 5.4 2.0 Likely pathogenic 0 -188129 Simple 149762843 A . Uncertain significance 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2016-06-14 -1.1099999999999999 1.75 Uncertain significance 0 -188131 Simple 756906403 G . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -1.47 0.8 Uncertain significance 0 -188133 Simple 150503781 C . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-27 -1.1099999999999999 1.75 Uncertain significance 0 -188134 Simple 61898615 A . Benign/Likely benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-05-08 -17.4 1.0 Benign/Likely benign 0 -188137 Simple 786204096 - . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -188139 Simple 34952009 A . Benign 2 2 not specified;Spastic paraplegia 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -188143 Simple 141191319 A . Benign/Likely benign 2 3 Long QT syndrome;not specified;not provided 2017-10-23 -11.1 1.3333333333333333 Benign/Likely benign 0 -188144 Simple 786204101 GG . Pathogenic 2 2 Long QT syndrome;not provided 2016-01-18 10.2 2.5 Pathogenic/Likely pathogenic 1 -188148 Simple 786204103 C . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -188151 Simple 745751553 C . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified 2015-08-05 -0.51 2.5 Uncertain significance 0 -188155 Simple 786204110 A . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-26 -0.84 1.6666666666666667 Uncertain significance 0 -188157 Simple 762382111 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-09 -0.81 1.6666666666666667 Uncertain significance 0 -188158 Simple 786204112 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-03-22 -0.54 2.0 Uncertain significance 0 -188159 Simple 767747402 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-30 -0.6 0.5 Uncertain significance 0 -188160 Simple 372619120 C . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -14.7 0.5 Benign/Likely benign 0 -188163 Simple 515726099 T . Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-26 8.1 1.6666666666666667 Likely pathogenic 0 -188166 Simple 764663152 A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-28 -0.8999999999999999 0.0 Uncertain significance 0 -188168 Simple 786204119 C . Likely pathogenic 2 2 Charcot-Marie-Tooth disease, type I;not provided 2017-11-02 5.4 1.5 Likely pathogenic 0 -188169 Simple 770276731 G . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-02-22 -0.6 1.0 Uncertain significance 0 -188171 Simple 778201041 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -0.84 1.3333333333333333 Uncertain significance 0 -188173 Simple 150882838 T . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.47 0.8 Uncertain significance 0 -188179 Simple 786204126 T . Pathogenic 2 2 Spastic paraplegia 4, autosomal dominant;not provided 2017-08-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -188181 Simple 786204127 A . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2017-09-07 -1.17 0.75 Uncertain significance 0 -188182 Simple 149828124 G . Conflicting interpretations of pathogenicity 1 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -188185 Simple 786204129 GAAAAATACAGCTTCCTCT . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-09-30 10.8 2.0 Pathogenic/Likely pathogenic 1 -188186 Simple 63750449 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-05 -1.14 1.0 Uncertain significance 0 -188188 Simple 786204130 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -188191 Simple 786204133 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-08 -1.2 0.25 Uncertain significance 0 -188192 Simple 778149316 TT . Pathogenic 2 2 Joubert syndrome;Joubert syndrome 7 2015-02-23 9.6 3.0 Pathogenic/Likely pathogenic 1 -188194 Simple 769980220 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -1.2 0.25 Uncertain significance 0 -188196 Simple 372966951 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -188207 Simple 786204146 G . Uncertain significance 2 2 Familial adenomatous polyposis 1 2016-03-22 -0.54 2.0 Uncertain significance 0 -188208 Simple 779791579 C . Uncertain significance 2 5 Gorlin syndrome;not provided;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-07-25 -1.5 0.4 Uncertain significance 0 -188210 Simple 776878597 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.2 0.0 Uncertain significance 0 -188213 Simple 786204151 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-01-22 -0.51 2.5 Uncertain significance 0 -188221 Simple 780759537 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-09-14 -0.8999999999999999 0.0 Uncertain significance 0 -188222 Simple . . . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-04-20 17.4 1.0 Pathogenic 0 -188223 Simple 773020689 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.2 0.25 Uncertain significance 0 -188224 Simple 786204160 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-20 -0.54 1.5 Uncertain significance 0 -188226 Simple 786204162 TT . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.0 Uncertain significance 0 -188228 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-08-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -188229 Simple 148720124 A . Uncertain significance 2 3 Primary ciliary dyskinesia;not specified 2016-08-17 -0.87 1.3333333333333333 Uncertain significance 0 -188230 Simple 757583846 T . Pathogenic/Likely pathogenic 2 2 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;not provided 2017-07-14 8.7 1.0 Pathogenic/Likely pathogenic 0 -188232 Simple 147122522 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -188234 Simple 786204166 G . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-01-03 -0.6 1.0 Uncertain significance 0 -188236 Simple 370656021 C . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2014-12-03 -0.48 3.0 Uncertain significance 0 -188241 Simple 786204171 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-31 -0.8999999999999999 0.0 Uncertain significance 0 -188245 Simple 147407445 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2016-06-08 -0.81 2.0 Uncertain significance 0 -188248 Simple 767904893 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-30 -0.54 2.0 Uncertain significance 0 -188249 Simple 375363608 C . Uncertain significance 2 2 Spastic paraplegia 11, autosomal recessive;Spastic Paraplegia, Recessive 2017-07-17 -0.6 0.5 Uncertain significance 0 -188250 Simple 786204176 T . Pathogenic/Likely pathogenic 2 1 Spastic paraplegia 11, autosomal recessive;not provided 2014-11-20 . 3.0 . 0 -188253 Simple 1064794670 CA . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-12-05 -0.6 1.0 Uncertain significance 0 -188262 Simple 786204182 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-22 -1.2 0.25 Uncertain significance 0 -188263 Simple 752980085 T . Uncertain significance 2 2 Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2015-01-15 -0.48 3.0 Uncertain significance 0 -188265 Simple 141679530 A . Uncertain significance 2 5 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome;Hyperparathyroidism;Multiple endocrine neoplasia 2017-07-27 -1.47 1.0 Uncertain significance 0 -188268 Simple 546866208 T . Benign/Likely benign 2 5 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-06-29 -18.0 0.8 Benign/Likely benign 0 -188269 Simple 786204186 A . Uncertain significance 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-21 -1.47 1.0 Uncertain significance 0 -188276 Simple 369227537 T . Pathogenic 2 2 Spastic paraplegia 7;Mitochondrial diseases;not provided 2017-05-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -188277 Simple 138407503 T . Benign/Likely benign 2 4 Dandy-Walker like malformation with atrioventricular septal defect;Spastic paraplegia 8;not specified;not provided;Spastic Paraplegia, Dominant 2017-07-12 -16.8 1.25 Benign/Likely benign 0 -188279 Simple 138800446 A . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -1.2 0.0 Uncertain significance 0 -188280 Simple 768638173 T . Pathogenic 2 4 Neurofibromatosis, type 1;not provided;Cafe-au-lait spot;Hereditary cancer-predisposing syndrome;Axillary freckling;Optic glioma 2017-11-28 23.4 0.75 Pathogenic 0 -188287 Simple 199700509 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -188289 Simple 759791227 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.0 Uncertain significance 0 -188291 Simple 369831474 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-08-26 -0.54 2.0 Uncertain significance 0 -188292 Simple 746834149 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-04-12 -0.54 2.0 Uncertain significance 0 -188298 Simple 370318597 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.0 Uncertain significance 0 -188304 Simple 786204206 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-26 -0.6 0.5 Uncertain significance 0 -188309 Simple 786204209 CC . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 27.6 2.0 Pathogenic 0 -188311 Simple 73795753 C . Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2016-09-15 -5.4 2.0 Likely benign 0 -188315 Simple 115012103 T . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Familial hyperaldosteronism;Cardiovascular phenotype 2016-06-14 -19.8 1.4 Benign/Likely benign 0 -188316 Simple 200252727 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-25 -0.87 1.0 Uncertain significance 0 -188317 Simple 573992101 G . Uncertain significance 2 7 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -2.1 0.5714285714285714 Uncertain significance 0 -188318 Simple 148618542 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-16 -0.54 2.0 Uncertain significance 0 -188322 Simple 749461008 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-27 -1.17 1.0 Uncertain significance 0 -188323 Simple 116890187 G . Benign/Likely benign 2 3 not specified;not provided;Spastic paraplegia 2017-08-03 -15.0 0.6666666666666666 Benign/Likely benign 0 -188327 Simple 786204217 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-22 -0.5700000000000001 1.5 Uncertain significance 0 -188328 Simple 786204218 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-24 -0.87 1.3333333333333333 Uncertain significance 0 -188329 Simple 786204219 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-07-01 -0.6 1.0 Uncertain significance 0 -188338 Simple 151166497 A . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-06-06 -9.0 0.0 Benign/Likely benign 0 -188339 Simple 538452060 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -0.8999999999999999 0.0 Uncertain significance 0 -188342 Simple 786204227 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2015-07-07 -0.51 2.5 Uncertain significance 0 -188343 Simple 786204228 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-05-04 -0.54 2.0 Uncertain significance 0 -188345 Simple 2227954 A . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -188347 Simple 770054790 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-15 -0.6 0.5 Uncertain significance 0 -188348 Simple 121913315 A . Pathogenic/Likely pathogenic 2 3 Peutz-Jeghers syndrome;Adenocarcinoma of lung;Hereditary cancer-predisposing syndrome;Neoplasm 2017-04-28 14.4 1.0 Pathogenic/Likely pathogenic 0 -188350 Simple 587778327 T . Uncertain significance 2 2 Fanconi anemia;not specified 2017-08-23 -0.6 0.5 Uncertain significance 0 -188351 Simple 75316802 G . Benign/Likely benign 2 3 Nephronophthisis;not specified 2017-08-08 -13.8 1.3333333333333333 Benign/Likely benign 0 -188353 Simple 185613200 G . Uncertain significance 2 2 Jeune thoracic dystrophy;not specified 2016-06-01 -0.54 2.0 Uncertain significance 0 -188355 Simple 786204235 C . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-11-22 -0.84 1.0 Uncertain significance 0 -188356 Simple 372189599 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -0.8999999999999999 0.0 Uncertain significance 0 -188359 Simple 202208861 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -0.8999999999999999 0.0 Uncertain significance 0 -188363 Simple 786204239 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-01 -0.54 2.0 Uncertain significance 0 -188369 Simple 200391019 A . Pathogenic/Likely pathogenic 2 5 Autosomal recessive polycystic kidney disease;not provided 2017-07-19 26.4 0.8 Pathogenic 1 -188373 Simple 61753359 A . Uncertain significance 2 4 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-11 -1.2 0.5 Uncertain significance 0 -188375 Simple 548176472 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -188376 Simple 786204242 T . Pathogenic/Likely pathogenic 2 2 Multiple endocrine neoplasia, type 1 2016-09-07 8.4 1.5 Pathogenic/Likely pathogenic 0 -188380 Simple . . . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome 2015-01-20 8.4 4.0 Pathogenic/Likely pathogenic 1 -188382 Simple 139920308 G . Uncertain significance 2 2 Lynch syndrome 2016-06-14 -0.54 2.0 Uncertain significance 0 -188387 Simple 786204248 C . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.41 1.4 Uncertain significance 0 -188393 Simple 786204252 - . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-10-27 10.2 2.5 Pathogenic/Likely pathogenic 1 -188402 Simple 745344948 - . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2017-05-16 -0.6 0.5 Uncertain significance 0 -188403 Simple 786204260 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -188404 Simple 8176128 T . Benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2015-01-12 -23.28 2.4 Benign/Likely benign 1 -188405 Simple 786204261 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 8.7 2.5 Pathogenic/Likely pathogenic 1 -188406 Simple 80357806 CATTCATT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -188407 Simple 786204262 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 19.8 2.25 Pathogenic 0 -188409 Simple 786204264 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 14.4 2.0 Pathogenic/Likely pathogenic 1 -188410 Simple 786204265 T . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.3 0.6666666666666666 Benign/Likely benign 1 -188414 Simple 786204267 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 14.4 2.3333333333333335 Pathogenic/Likely pathogenic 1 -188417 Simple 786204269 T . Uncertain significance 2 2 not specified 2016-12-16 -0.51 2.5 Uncertain significance 0 -188421 Simple 115376548 G . Benign 3 3 Breast-ovarian cancer, familial 2;not specified 2015-01-12 -13.08 2.0 Benign/Likely benign 1 -188424 Simple 11571622 T . Benign 3 5 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -21.78 2.0 Benign/Likely benign 1 -188425 Simple 786204273 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -188427 Simple 138734772 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified 2016-04-21 -0.6599999999999999 3.6666666666666665 Uncertain significance 0 -188428 Simple 80358714 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-05-29 -0.51 2.5 Uncertain significance 0 -188430 Simple 786204276 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -3.54 1.5 Uncertain significance 2 -188433 Simple 144784912 C . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -1.5 0.4 Uncertain significance 0 -188434 Simple 786204278 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -188435 Simple 786204279 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.2 2.0 Pathogenic 0 -188436 Simple 786204280 A . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-17 11.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -188437 Simple 786204281 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -188438 Simple 786204282 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -6.4799999999999995 1.6666666666666667 Likely benign 0 -188440 Simple 786204283 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 9.6 1.0 Pathogenic/Likely pathogenic 1 -188441 Simple 786204284 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-08 -0.48 3.0 Uncertain significance 0 -188447 Simple 55657337 A . Benign 2 1 not specified 2013-02-26 . 5.0 . 0 -188453 Simple 551034751 A . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy;not specified 2017-04-04 -0.78 2.0 Uncertain significance 0 -188459 Simple 786204294 A . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2015-12-14 -0.45 3.5 Uncertain significance 0 -188463 Simple 759869347 A . Uncertain significance 2 2 not specified 2015-02-05 -0.44999999999999996 3.5 Uncertain significance 0 -188465 Simple 141508330 C . Uncertain significance 2 4 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified;not provided 2017-04-27 -1.02 2.25 Uncertain significance 0 -188466 Simple 200421954 G . Uncertain significance 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-04-11 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -188469 Simple 139673146 G . Uncertain significance 2 3 not specified 2016-06-30 -0.75 2.6666666666666665 Uncertain significance 0 -188475 Simple 372147077 A . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -188477 Simple 142626724 A . Benign/Likely benign 2 3 Glycogen storage disease, type II;not specified 2017-08-08 -13.8 1.6666666666666667 Benign/Likely benign 0 -188483 Simple 367632754 A . Uncertain significance 2 3 Glycogen storage disease, type II;not specified 2017-05-08 -0.81 1.6666666666666667 Uncertain significance 0 -188490 Simple 143766955 T . Benign/Likely benign 2 2 not specified 2015-02-05 -6.0 4.0 Likely benign 1 -188509 Simple 267607795 A . Pathogenic/Likely pathogenic 2 2 Lynch syndrome 2016-08-12 8.4 2.0 Pathogenic/Likely pathogenic 0 -188513 Simple 786204319 AA . Pathogenic/Likely pathogenic 2 2 Lynch syndrome 2015-02-05 6.6 3.5 Likely pathogenic 1 -188515 Simple . . . Pathogenic 2 1 Lynch syndrome 2015-02-05 . 3.0 . 0 -188516 Simple 786204321 T . Pathogenic 2 3 Lynch syndrome;not provided 2016-05-19 16.2 2.0 Pathogenic 0 -188531 Simple 397516068 A . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2017-07-03 8.4 1.5 Pathogenic/Likely pathogenic 0 -188532 Simple 786204329 . . Pathogenic 2 2 Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy 2016-01-01 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -188541 Simple 2856650 A . Benign 2 1 not specified 2012-02-23 . 6.0 . 0 -188543 Simple 11570078 T . Benign 2 1 not specified 2012-02-23 . 6.0 . 0 -188548 Simple 786204339 - . Pathogenic/Likely pathogenic 2 3 Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy 2017-08-03 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -188566 Simple 3729948 C . Benign 2 1 not specified 2012-02-23 . 6.0 . 0 -188578 Simple 11570115 C . Benign 2 1 not specified 2012-02-23 . 6.0 . 0 -188589 Simple 543376073 A . Uncertain significance 2 4 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.1099999999999999 1.75 Uncertain significance 0 -188596 Simple 752930302 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-03-01 -0.8099999999999999 2.0 Uncertain significance 0 -188603 Simple 45580436 T . Benign/Likely benign 2 1 not specified 2013-09-24 . 4.0 . 0 -188611 Simple 376572023 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-19 -0.54 1.5 Uncertain significance 0 -188613 Simple 3729817 A . Likely benign 2 1 not specified 2013-09-25 . 4.0 . 0 -188620 Simple 7157087 T . Benign 2 1 not specified 2013-09-25 . 4.0 . 0 -188628 Simple 574005462 C . Benign 3 11 Myosin storage myopathy;Myopathy, distal, 1;not specified;not provided;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-15 -28.259999999999998 1.7272727272727273 Benign 0 -188631 Simple 114978322 T . Benign/Likely benign 2 1 not specified 2013-09-25 . 4.0 . 0 -188634 Simple 45581933 T . Benign/Likely benign 2 1 not specified 2013-09-25 . 4.0 . 0 -188635 Simple 3729822 T . Benign/Likely benign 2 1 not specified 2013-09-25 . 4.0 . 0 -188636 Simple 45503601 A . Benign/Likely benign 2 1 not specified 2013-09-25 . 4.0 . 0 -188641 Simple 369562442 T . Uncertain significance 2 2 not specified 2017-08-07 -0.54 1.5 Uncertain significance 0 -188643 Simple 45468101 A . Benign 2 1 not specified 2013-09-25 . 4.0 . 0 -188649 Simple 45548631 T . Benign/Likely benign 2 7 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -20.1 1.4285714285714286 Benign/Likely benign 0 -188651 Simple 373925978 C . Benign/Likely benign 2 2 not specified;Cardiomyopathy, ARVC 2016-06-14 -7.8 2.0 Likely benign 1 -188653 Simple 786204388 - . Pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2016-02-10 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -188654 Simple 786204389 A . Pathogenic/Likely pathogenic 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided;Cardiovascular phenotype 2017-02-01 19.5 2.0 Pathogenic 1 -188657 Simple 786204392 T . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy 2016-01-18 7.800000000000001 2.5 Likely pathogenic 1 -188664 Simple 145324631 C . Uncertain significance 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not specified 2017-03-13 -1.08 1.75 Uncertain significance 0 -188678 Simple 45561443 T . Likely benign 2 1 not specified 2013-01-03 . 5.0 . 0 -188681 Simple 45449197 C . Benign/Likely benign 2 1 not specified 2013-09-24 . 4.0 . 0 -188691 Simple 45495692 A . Benign/Likely benign 2 1 not specified 2013-09-24 . 4.0 . 0 -188697 Simple 786204411 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-02-05 -0.42 4.0 Uncertain significance 0 -188704 Simple 786204412 G . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2015-07-20 -0.51 2.5 Uncertain significance 0 -188708 Simple 745520822 C . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-02-09 -0.51 2.5 Uncertain significance 0 -188709 Simple 786204415 - . Uncertain significance 2 2 not specified 2015-03-04 -0.44999999999999996 3.5 Uncertain significance 0 -188712 Simple 779113356 - . Pathogenic/Likely pathogenic 2 2 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided 2016-08-11 8.1 2.5 Likely pathogenic 1 -188715 Simple 786204421 - . Pathogenic/Likely pathogenic 2 2 Pendred's syndrome;not specified 2017-02-09 8.4 2.0 Pathogenic/Likely pathogenic 0 -188721 Simple 786204426 C . Pathogenic/Likely pathogenic 2 2 Pendred's syndrome;not provided 2018-01-05 8.4 1.5 Pathogenic/Likely pathogenic 0 -188723 Simple 104886039 A . Pathogenic/Likely pathogenic 2 2 Smith-Lemli-Opitz syndrome;not provided 2017-04-18 8.4 1.5 Pathogenic/Likely pathogenic 0 -188725 Simple 367956522 C . Pathogenic/Likely pathogenic 2 2 Wilson disease;not provided 2017-01-20 8.4 2.0 Pathogenic/Likely pathogenic 0 -188726 Simple 786204428 ATTGGACA . Pathogenic/Likely pathogenic 2 3 Usher syndrome, type 3A;not provided 2016-05-13 13.8 2.0 Pathogenic/Likely pathogenic 0 -188728 Simple 368438393 A . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II;not provided 2017-03-07 8.4 1.5 Pathogenic/Likely pathogenic 0 -188729 Simple 267608179 T . Pathogenic/Likely pathogenic 2 2 Zellweger syndrome 2016-03-25 8.4 2.0 Pathogenic/Likely pathogenic 0 -188730 Simple 530318579 T . Pathogenic/Likely pathogenic 2 2 Nephrotic syndrome, idiopathic, steroid-resistant;not provided 2017-05-05 8.4 1.5 Pathogenic/Likely pathogenic 0 -188733 Simple 768814872 C . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2D 2016-01-14 13.200000000000001 2.3333333333333335 Pathogenic/Likely pathogenic 0 -188736 Simple 117122807 C . Benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2017-06-28 -16.2 1.6666666666666667 Benign/Likely benign 1 -188737 Simple 786204433 T . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-12-15 24.6 2.0 Pathogenic 1 -188742 Simple 113562492 C . Benign/Likely benign 2 4 Autosomal recessive polycystic kidney disease;not specified 2017-08-10 -16.2 1.75 Benign/Likely benign 0 -188747 Simple 758902805 T . Pathogenic/Likely pathogenic 2 3 Niemann-Pick disease type C1;not provided 2016-02-21 10.5 2.3333333333333335 Pathogenic/Likely pathogenic 0 -188751 Simple 781496816 T . Pathogenic/Likely pathogenic 2 2 Tyrosinemia type I;not provided 2016-11-03 8.4 2.0 Pathogenic/Likely pathogenic 0 -188758 Simple 371024165 A . Likely pathogenic 2 2 Deafness, autosomal recessive 1A 2016-04-15 5.4 2.0 Likely pathogenic 0 -188762 Simple 781784543 A . Pathogenic/Likely pathogenic 2 2 Glucose-6-phosphate transport defect;not provided 2016-07-14 8.4 2.0 Pathogenic/Likely pathogenic 0 -188763 Simple 190521996 C . Pathogenic/Likely pathogenic 2 4 Carbohydrate-deficient glycoprotein syndrome type I;Congenital disorder of glycosylation;not provided 2017-07-05 20.4 1.0 Pathogenic 1 -188764 Simple 201551805 A . Pathogenic/Likely pathogenic 2 2 Junctional epidermolysis bullosa gravis of Herlitz;not provided 2017-06-02 8.4 1.5 Pathogenic/Likely pathogenic 0 -188767 Simple 786204454 - . Pathogenic/Likely pathogenic 2 2 Galactosylceramide beta-galactosidase deficiency;not provided 2016-10-06 8.4 2.0 Pathogenic/Likely pathogenic 0 -188768 Simple 72547562 T . Pathogenic/Likely pathogenic 2 2 Sjögren-Larsson syndrome;not provided 2015-04-15 7.800000000000001 2.5 Likely pathogenic 1 -188770 Simple 786204456 G . Likely pathogenic 2 2 Cohen syndrome;not provided 2017-09-25 5.4 1.5 Likely pathogenic 0 -188773 Simple 757111744 T . Pathogenic/Likely pathogenic 2 3 Glycogen storage disease, type II 2016-06-14 10.8 2.0 Pathogenic/Likely pathogenic 0 -188777 Simple 780226142 A . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease type 1A 2016-06-29 8.4 2.0 Pathogenic/Likely pathogenic 0 -188782 Simple 370793608 T . Pathogenic/Likely pathogenic 2 2 Hereditary fructosuria 2014-06-13 7.199999999999999 3.0 Likely pathogenic 1 -188783 Simple 755416052 G . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.0 1.5 Pathogenic/Likely pathogenic 1 -188789 Simple 777201305 A . Pathogenic/Likely pathogenic 2 2 Glutaric aciduria, type 1 2016-02-09 7.800000000000001 2.5 Likely pathogenic 1 -188790 Simple 786204471 AAAT . Pathogenic/Likely pathogenic 2 2 Bloom syndrome 2017-08-04 8.4 1.5 Pathogenic/Likely pathogenic 0 -188794 Simple 139751448 T . Pathogenic/Likely pathogenic 2 3 Niemann-Pick disease type C1;not provided 2017-03-24 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -188800 Simple 786204478 C . Pathogenic/Likely pathogenic 2 2 Polyglandular autoimmune syndrome, type 1;not provided 2016-12-08 8.4 2.0 Pathogenic/Likely pathogenic 0 -188801 Simple 771298943 T . Pathogenic/Likely pathogenic 2 2 Homocystinuria due to CBS deficiency;not provided 2015-06-29 7.800000000000001 2.5 Likely pathogenic 1 -188802 Simple 201497300 T . Pathogenic/Likely pathogenic 2 2 Wilson disease;Epileptic encephalopathy 2017-06-19 8.4 1.5 Pathogenic/Likely pathogenic 0 -188806 Simple 201896815 A . Likely pathogenic 2 2 Glycogen storage disease, type II 2017-06-19 5.4 1.5 Likely pathogenic 0 -188813 Simple 200179145 T . Pathogenic/Likely pathogenic 2 6 Autosomal recessive polycystic kidney disease;not provided 2016-11-17 28.2 1.6666666666666667 Pathogenic 1 -188820 Simple 2233783 G . Benign/Likely benign 2 4 Pituitary hormone deficiency, combined 2;not specified;not provided;Combined Pituitary Hormone Deficiency, Recessive 2016-10-13 -19.8 1.5 Benign/Likely benign 0 -188821 Simple 786204491 TT . Pathogenic/Likely pathogenic 2 2 Deafness, autosomal recessive 1A 2017-05-09 8.4 1.5 Pathogenic/Likely pathogenic 0 -188825 Simple 763036586 T . Pathogenic/Likely pathogenic 2 2 Homocystinuria due to CBS deficiency;not provided 2015-08-03 7.800000000000001 2.5 Likely pathogenic 1 -188829 Simple 775351239 - . Pathogenic/Likely pathogenic 2 2 Homocystinuria due to CBS deficiency;not provided 2015-02-06 7.199999999999999 3.0 Likely pathogenic 1 -188830 Simple 104894413 T . Pathogenic/Likely pathogenic 2 5 Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, X-linked 2;not provided 2017-05-18 25.2 1.4 Pathogenic 1 -188831 Simple 201038679 A . Pathogenic 2 2 Wilson disease;not provided 2015-12-27 10.2 2.5 Pathogenic/Likely pathogenic 1 -188834 Simple 786204501 - . Pathogenic 2 2 Cystinosis;Nephropathic cystinosis 2016-10-06 10.2 2.5 Pathogenic/Likely pathogenic 1 -188836 Simple 72559713 G . Likely pathogenic 2 2 Persistent hyperinsulinemic hypoglycemia of infancy 2015-11-09 5.1 2.5 Likely pathogenic 0 -188841 Simple 786204507 - . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II 2016-02-16 7.800000000000001 2.5 Likely pathogenic 1 -188859 Simple 776280797 T . Likely pathogenic 2 2 Wilson disease 2015-08-28 5.1 2.5 Likely pathogenic 0 -188861 Simple 387906225 - . Pathogenic/Likely pathogenic 2 2 Hereditary fructosuria 2015-10-07 7.199999999999999 3.0 Likely pathogenic 1 -188872 Simple 766518430 T . Likely pathogenic 2 2 Glutaric aciduria, type 1;not provided 2017-01-23 5.4 2.0 Likely pathogenic 0 -188873 Simple 61750418 A . Pathogenic/Likely pathogenic 2 2 Zellweger syndrome 2014-10-02 7.199999999999999 3.0 Likely pathogenic 1 -188877 Simple 786204530 CA . Pathogenic/Likely pathogenic 2 2 Infantile hypophosphatasia;not provided 2016-08-24 8.4 2.0 Pathogenic/Likely pathogenic 0 -188878 Simple 542620119 C . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-01-04 7.800000000000001 2.5 Likely pathogenic 1 -188879 Simple 768671894 A . Pathogenic/Likely pathogenic 2 2 Wilson disease;not provided 2016-03-15 8.4 2.0 Pathogenic/Likely pathogenic 0 -188880 Simple 786204532 C . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II 2016-03-25 8.4 2.0 Pathogenic/Likely pathogenic 0 -188882 Simple 748949603 G . Pathogenic/Likely pathogenic 2 3 Inclusion body myopathy 2;Nonaka myopathy 2016-06-01 14.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -188883 Simple 755709270 - . Pathogenic 2 3 Wilson disease;not specified 2016-11-22 15.6 2.3333333333333335 Pathogenic 0 -188884 Simple 786204536 T . Pathogenic/Likely pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2016-02-02 7.800000000000001 2.5 Likely pathogenic 1 -188888 Simple 766328537 A . Pathogenic/Likely pathogenic 2 2 Spongy degeneration of central nervous system;not provided 2017-04-07 8.4 1.5 Pathogenic/Likely pathogenic 0 -188889 Simple 200455203 C . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2017-07-01 8.4 1.5 Pathogenic/Likely pathogenic 0 -188895 Simple 786204543 - . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-08-05 8.4 2.0 Pathogenic/Likely pathogenic 0 -188896 Simple 148617572 A . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2016-08-05 8.4 2.0 Pathogenic/Likely pathogenic 0 -188901 Simple 781404312 A . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-24 26.4 0.8 Pathogenic 1 -188902 Simple 536906561 A . Likely pathogenic 2 2 Glycogen storage disease, type II 2017-08-08 5.4 1.5 Likely pathogenic 0 -188904 Simple 786204549 - . Pathogenic/Likely pathogenic 2 3 Glycogen storage disease, type II 2017-07-24 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -188905 Simple 541269678 A . Pathogenic/Likely pathogenic 2 2 Persistent hyperinsulinemic hypoglycemia of infancy 2015-12-24 7.800000000000001 2.5 Likely pathogenic 1 -188909 Simple 786204553 T . Pathogenic/Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 2;not provided 2015-12-29 7.800000000000001 2.5 Likely pathogenic 1 -188911 Simple 764160782 - . Pathogenic/Likely pathogenic 2 2 Homocystinuria due to CBS deficiency;not provided 2017-07-21 8.4 1.5 Pathogenic/Likely pathogenic 0 -188913 Simple 756908183 T . Pathogenic/Likely pathogenic 2 2 Hereditary factor XI deficiency disease 2016-06-26 8.4 2.0 Pathogenic/Likely pathogenic 0 -188915 Simple 72559722 A . Pathogenic/Likely pathogenic 2 3 Persistent hyperinsulinemic hypoglycemia of infancy;not provided 2016-06-24 14.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -188917 Simple 746645358 A . Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 8;not provided 2017-07-06 5.4 1.5 Likely pathogenic 0 -188919 Simple 4148619 T . Likely benign 2 4 Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -188921 Simple 139851890 T . Pathogenic/Likely pathogenic 2 2 Glutaric aciduria, type 1;not provided 2015-04-14 7.800000000000001 2.5 Likely pathogenic 1 -188923 Simple 143312232 A . Pathogenic/Likely pathogenic 2 2 Smith-Lemli-Opitz syndrome 2017-04-07 8.4 1.5 Pathogenic/Likely pathogenic 0 -188927 Simple 758236584 A . Pathogenic/Likely pathogenic 2 3 Homocystinuria due to CBS deficiency;not provided 2017-05-07 13.2 2.0 Pathogenic/Likely pathogenic 0 -188929 Simple 200926928 C . Pathogenic/Likely pathogenic 2 2 Tay-Sachs disease 2016-10-13 8.4 2.0 Pathogenic/Likely pathogenic 0 -188933 Simple 199475565 - . Pathogenic/Likely pathogenic 2 3 Phenylketonuria;not provided 2017-02-28 13.2 2.3333333333333335 Pathogenic/Likely pathogenic 0 -188934 Simple 786204566 TT . Pathogenic/Likely pathogenic 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2016-08-16 13.8 2.0 Pathogenic/Likely pathogenic 0 -188935 Simple 786204567 CC . Pathogenic/Likely pathogenic 2 2 Polyglandular autoimmune syndrome, type 1;not provided 2016-12-16 8.4 2.0 Pathogenic/Likely pathogenic 0 -188936 Simple 781088002 - . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II 2016-04-21 8.4 2.0 Pathogenic/Likely pathogenic 0 -188944 Simple 786204576 CA . Pathogenic/Likely pathogenic 2 2 Nemaline myopathy 2;not provided 2015-09-01 7.800000000000001 2.5 Likely pathogenic 1 -188954 Simple 786204585 A . Pathogenic/Likely pathogenic 2 2 Tay-Sachs disease;not provided 2016-12-20 8.4 2.0 Pathogenic/Likely pathogenic 0 -188958 Simple 397508189 GATAGATA . Pathogenic 3 4 Cystic fibrosis;not provided 2017-03-17 19.8 1.5 Pathogenic 0 -188959 Simple 142107837 T . Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2017-08-10 5.4 1.5 Likely pathogenic 0 -188960 Simple 786204588 - . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2016-03-24 8.4 2.0 Pathogenic/Likely pathogenic 0 -188961 Simple 557012154 T . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-19 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -188969 Simple 752537626 G . Pathogenic/Likely pathogenic 2 2 Galactosylceramide beta-galactosidase deficiency 2016-03-16 8.4 2.0 Pathogenic/Likely pathogenic 0 -188987 Simple 786204607 A . Likely pathogenic 2 2 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided 2017-10-20 5.4 1.5 Likely pathogenic 0 -188990 Simple 775170915 - . Pathogenic/Likely pathogenic 2 2 Nephrotic syndrome, idiopathic, steroid-resistant;not provided 2016-11-01 8.4 2.0 Pathogenic/Likely pathogenic 0 -188993 Simple 786204613 - . Likely pathogenic 2 2 Isovaleryl-CoA dehydrogenase deficiency 2016-07-14 5.4 2.0 Likely pathogenic 0 -188998 Simple 539699299 A . Pathogenic/Likely pathogenic 2 2 Pendred's syndrome;not specified 2017-05-18 8.4 1.5 Pathogenic/Likely pathogenic 0 -189008 Simple 753108198 - . Pathogenic/Likely pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2014-10-10 7.199999999999999 3.0 Likely pathogenic 1 -189016 Simple 148207467 T . Pathogenic/Likely pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2016-07-20 8.4 2.0 Pathogenic/Likely pathogenic 0 -189025 Simple 140826989 A . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II 2014-10-20 7.199999999999999 3.0 Likely pathogenic 1 -189026 Simple 754392766 A . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2016-01-22 7.800000000000001 2.5 Likely pathogenic 1 -189031 Simple 372006750 T . Pathogenic/Likely pathogenic 2 2 Achromatopsia 3 2017-03-27 7.199999999999999 3.0 Likely pathogenic 1 -189034 Simple 146794392 A . Pathogenic/Likely pathogenic 2 2 Junctional epidermolysis bullosa gravis of Herlitz;not provided 2017-10-23 8.4 1.5 Pathogenic/Likely pathogenic 0 -189036 Simple 786204642 - . Pathogenic/Likely pathogenic 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-08-22 13.2 2.3333333333333335 Pathogenic/Likely pathogenic 0 -189038 Simple 786204644 - . Pathogenic/Likely pathogenic 2 3 Ceroid lipofuscinosis neuronal 5;Neuronal ceroid lipofuscinosis;not provided 2016-06-13 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -189041 Simple 786204646 C . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II 2016-02-02 7.800000000000001 2.5 Likely pathogenic 1 -189043 Simple 61750426 - . Pathogenic/Likely pathogenic 2 6 Zellweger syndrome;Peroxisome biogenesis disorder 11A;Peroxisome biogenesis disorder 11B;not provided;Peroxisome biogenesis disorder 1B 2016-09-21 30.0 2.0 Pathogenic 1 -189044 Simple 786204648 - . Pathogenic/Likely pathogenic 2 2 Citrullinemia type I 2016-12-15 8.4 2.0 Pathogenic/Likely pathogenic 0 -189045 Simple 771961377 T . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease type III;not provided 2017-09-22 8.4 1.5 Pathogenic/Likely pathogenic 0 -189048 Simple 780379121 - . Pathogenic/Likely pathogenic 2 3 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 14.4 1.0 Pathogenic/Likely pathogenic 0 -189050 Simple 756029120 T . Pathogenic/Likely pathogenic 2 2 Wilson disease 2016-12-02 8.4 2.0 Pathogenic/Likely pathogenic 0 -189051 Simple 756484720 - . Pathogenic/Likely pathogenic 2 3 Deafness, autosomal recessive 1A;not provided 2017-06-19 14.4 1.0 Pathogenic/Likely pathogenic 0 -189053 Simple 774209201 G . Pathogenic/Likely pathogenic 2 4 Fanconi anemia;Fanconi anemia, complementation group C;not provided 2016-12-13 16.2 2.0 Pathogenic 1 -189054 Simple 764389018 T . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-27 19.8 1.5 Pathogenic 1 -189065 Simple 370950728 A . Pathogenic/Likely pathogenic 2 4 Glycogen storage disease, type II;not provided 2017-04-12 16.8 1.5 Pathogenic 1 -189070 Simple 773528125 CGTTCGTT . Pathogenic/Likely pathogenic 2 5 Deafness, autosomal recessive 1A;not provided 2017-05-22 24.0 1.8 Pathogenic 1 -189075 Simple 753508874 T . Likely pathogenic 2 2 Niemann-Pick disease, type A;not provided 2017-10-24 5.4 1.5 Likely pathogenic 0 -189076 Simple 61753245 A . Pathogenic/Likely pathogenic 2 2 Rhizomelic chondrodysplasia punctata type 1;not provided 2017-11-14 8.4 1.5 Pathogenic/Likely pathogenic 0 -189090 Simple 786204688 A . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2015-03-24 7.800000000000001 2.5 Likely pathogenic 1 -189093 Simple 786204691 - . Pathogenic/Likely pathogenic 2 2 Deficiency of butyryl-CoA dehydrogenase;not provided 2014-12-16 7.199999999999999 3.0 Likely pathogenic 1 -189095 Simple 786204693 AA . Pathogenic/Likely pathogenic 2 3 Cystic fibrosis;Hereditary pancreatitis 2016-03-28 14.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -189104 Simple 778269655 A . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -189105 Simple 781205883 - . Pathogenic/Likely pathogenic 2 4 Mitochondrial trifunctional protein deficiency;Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided 2014-12-23 16.2 3.25 Pathogenic 1 -189109 Simple 72552285 G . Likely pathogenic 2 2 Wilson disease 2017-07-27 5.4 1.5 Likely pathogenic 0 -189110 Simple 786204707 T . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease;Polycystic kidney dysplasia;Renal cyst;Ventricular hypertrophy 2014-12-29 7.199999999999999 3.0 Likely pathogenic 1 -189112 Simple 753962912 - . Pathogenic/Likely pathogenic 2 2 Wilson disease 2016-04-28 8.4 2.0 Pathogenic/Likely pathogenic 0 -189116 Simple 786204713 - . Pathogenic/Likely pathogenic 2 3 Very long chain acyl-CoA dehydrogenase deficiency 2016-11-22 13.2 2.3333333333333335 Pathogenic/Likely pathogenic 0 -189121 Simple 786204718 T . Pathogenic/Likely pathogenic 2 2 Wilson disease;not provided 2017-08-23 8.4 1.5 Pathogenic/Likely pathogenic 0 -189123 Simple 799905 C . Benign 3 2 Breast-ovarian cancer, familial 1 2015-01-12 -10.08 3.0 Benign/Likely benign 1 -189126 Simple 786204721 G . Pathogenic/Likely pathogenic 2 3 Tay-Sachs disease;not provided 2017-05-12 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -189140 Simple 786204726 - . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-17 20.4 1.25 Pathogenic 1 -189143 Simple 181208607 T . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease;Polycystic kidney dysplasia 2015-01-22 6.6 3.5 Likely pathogenic 1 -189148 Simple 1064797340 TT . Likely pathogenic 2 2 Pendred's syndrome;not provided 2016-09-30 5.4 2.0 Likely pathogenic 0 -189149 Simple 749472361 A . Pathogenic/Likely pathogenic 2 2 Wilson disease 2017-07-27 8.4 1.5 Pathogenic/Likely pathogenic 0 -189150 Simple 142967670 T . Pathogenic/Likely pathogenic 2 2 Glutaric aciduria, type 1;not provided 2017-08-21 8.4 1.5 Pathogenic/Likely pathogenic 0 -189155 Simple 786204734 A . Likely pathogenic 2 2 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness 2015-05-17 5.1 2.5 Likely pathogenic 0 -189156 Simple 748704459 T . Pathogenic/Likely pathogenic 2 2 Inclusion body myopathy 2 2017-05-31 8.4 1.5 Pathogenic/Likely pathogenic 0 -189158 Simple 786204737 - . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-22 17.1 1.25 Pathogenic 1 -189160 Simple 786204739 G . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2017-07-01 8.4 1.5 Pathogenic/Likely pathogenic 0 -189172 Simple 374143224 A . Pathogenic/Likely pathogenic 2 3 Glycogen storage disease, type II;not provided 2017-04-25 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -189174 Simple 200444084 T . Pathogenic/Likely pathogenic 2 3 Niemann-Pick disease type C1;not provided 2017-02-24 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -189176 Simple 104894395 T . Pathogenic/Likely pathogenic 2 2 Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness 2016-02-25 7.800000000000001 2.5 Likely pathogenic 1 -189178 Simple 786204752 - . Pathogenic 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 23.4 1.6 Pathogenic 0 -189179 Simple 786204753 T . Pathogenic/Likely pathogenic 2 3 Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis;not provided 2017-08-10 12.0 2.6666666666666665 Pathogenic/Likely pathogenic 0 -189182 Simple 386834067 AGAA . Pathogenic/Likely pathogenic 2 2 Cohen syndrome 2017-07-04 8.4 1.5 Pathogenic/Likely pathogenic 0 -189186 Simple 786204758 G . Pathogenic/Likely pathogenic 2 2 Ataxia with vitamin E deficiency;not provided 2017-04-26 8.4 1.5 Pathogenic/Likely pathogenic 0 -189190 Simple 786204762 T . Pathogenic/Likely pathogenic 2 2 Achromatopsia 3;not provided 2017-03-27 8.4 2.0 Pathogenic/Likely pathogenic 0 -189191 Simple 786204763 T . Pathogenic/Likely pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2015-06-08 7.800000000000001 2.5 Likely pathogenic 1 -189193 Simple 753236073 T . Pathogenic/Likely pathogenic 2 2 Wilson disease;not provided 2016-02-28 7.800000000000001 2.5 Likely pathogenic 1 -189201 Simple 143441644 T . Pathogenic 2 2 not provided;Coenzyme Q10 deficiency, primary, 7 2017-10-19 12.0 0.0 Pathogenic/Likely pathogenic 1 -189229 Simple 530719719 - . Pathogenic 2 3 Thyroid dyshormonogenesis 6;not provided 2017-05-01 16.8 1.3333333333333333 Pathogenic 0 -189239 Simple 202143236 A . Pathogenic 2 2 Glycogen storage disease, type VII 2016-10-21 10.8 2.0 Pathogenic/Likely pathogenic 1 -189243 Simple 786204786 - . Pathogenic 2 4 Severe autosomal recessive muscular dystrophy of childhood - North African type 2016-12-03 21.6 2.0 Pathogenic 0 -189251 Simple 71530923 T . Pathogenic/Likely pathogenic 2 2 Diabetes mellitus AND insipidus with optic atrophy AND deafness;WFS1-Related Disorders;Wolfram-like syndrome, autosomal dominant;not provided 2017-04-10 7.2 2.0 Likely pathogenic 1 -189281 Simple 786204815 A . Pathogenic 2 2 Mowat-Wilson syndrome 2015-03-02 9.6 3.0 Pathogenic/Likely pathogenic 1 -189319 Simple 786204835 - . Pathogenic 2 2 not provided;Mental retardation, autosomal dominant 31 2017-07-25 12.0 0.0 Pathogenic/Likely pathogenic 1 -189324 Simple 786204839 T . Pathogenic/Likely pathogenic 2 3 Brugada syndrome;not provided;Cardiovascular phenotype 2017-01-18 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -189397 Simple 587782345 T . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;not specified 2017-10-18 -0.6 0.5 Uncertain significance 0 -189402 Simple 398123316 G . Pathogenic/Likely pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-03-01 8.1 2.5 Likely pathogenic 1 -189406 Simple 786204859 A . Pathogenic 2 3 PTEN hamartoma tumor syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-23 18.0 0.6666666666666666 Pathogenic 0 -189411 Simple 786204864 T . Pathogenic 2 4 Bannayan-Riley-Ruvalcaba syndrome;PTEN hamartoma tumor syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-13 22.8 1.0 Pathogenic 0 -189425 Simple 786204877 - . Benign/Likely benign 2 3 Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2016-10-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -189426 Simple 759485888 C . Benign/Likely benign 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -13.8 0.75 Benign/Likely benign 0 -189431 Simple 786204883 TT . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-08-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -189435 Simple 786203072 . . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -0.6 0.5 Uncertain significance 0 -189441 Simple 587782304 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-06-16 9.6 2.5 Pathogenic/Likely pathogenic 1 -189448 Simple 786204900 - . Pathogenic 2 3 PTEN hamartoma tumor syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-20 16.2 1.6666666666666667 Pathogenic 0 -189451 Simple 786204903 - . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 10.8 1.5 Pathogenic/Likely pathogenic 1 -189455 Simple 764917503 T . Uncertain significance 2 2 not specified 2017-06-09 -0.6 0.0 Uncertain significance 0 -189458 Simple 786204910 T . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2015-07-30 10.8 2.0 Pathogenic/Likely pathogenic 1 -189474 Simple 398123317 C . Pathogenic/Likely pathogenic 2 4 PTEN hamartoma tumor syndrome;Cowden syndrome 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-11 18.0 0.5 Pathogenic 1 -189476 Simple 786204922 G . Uncertain significance 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -1.1400000000000001 1.25 Uncertain significance 0 -189484 Simple 786204929 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-23 12.0 1.0 Pathogenic/Likely pathogenic 1 -189486 Simple 786204931 T . Pathogenic/Likely pathogenic 2 2 PTEN hamartoma tumor syndrome;not provided 2017-06-28 9.0 0.0 Pathogenic/Likely pathogenic 0 -189500 Simple 121913293 T . Pathogenic/Likely pathogenic 2 4 PTEN hamartoma tumor syndrome;not provided;Neoplasm of brain;Hereditary cancer-predisposing syndrome 2017-06-12 20.7 0.75 Pathogenic 1 -189501 Simple 786204943 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-19 -0.54 2.0 Uncertain significance 0 -189509 Simple 587782455 G . Pathogenic/Likely pathogenic 2 2 PTEN hamartoma tumor syndrome;Cowden syndrome 1;Hereditary cancer-predisposing syndrome 2017-05-26 6.0 0.5 Likely pathogenic 1 -189510 Simple 759852661 C . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;not specified 2016-05-12 -0.54 2.0 Uncertain significance 0 -189524 Simple 786205432 A . Uncertain significance 2 2 not specified 2016-08-22 -0.6 1.0 Uncertain significance 0 -189533 Simple 140313320 A . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2016-12-19 -9.0 1.0 Benign/Likely benign 0 -189534 Simple 373448935 A . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2017-06-23 -6.0 0.5 Likely benign 1 -189554 Simple 786204967 - . Pathogenic 2 2 not provided;Epileptic encephalopathy 2017-06-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -189612 Simple 786205001 - . Pathogenic 2 3 Rett syndrome, congenital variant;not provided 2017-07-31 16.8 1.0 Pathogenic 0 -189844 Simple 794726697 A . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided;Early infantile epileptic encephalopathy 2017-02-06 16.2 2.0 Pathogenic 0 -189848 Simple 138877187 A . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2016-04-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -189857 Simple 397514459 A . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 2014-12-20 14.399999999999999 3.0 Pathogenic/Likely pathogenic 1 -189861 Simple 794726710 A . Pathogenic 2 4 Severe myoclonic epilepsy in infancy;not provided 2016-11-09 20.4 2.5 Pathogenic 0 -189862 Simple 794726711 T . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2017-07-13 10.8 1.5 Pathogenic/Likely pathogenic 1 -189867 Simple 794726716 T . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2016-06-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -189869 Simple 794726718 T . Pathogenic 2 4 Severe myoclonic epilepsy in infancy;not provided;Early infantile epileptic encephalopathy 2017-06-05 22.2 1.5 Pathogenic 0 -189870 Simple 199727342 A . Pathogenic 2 5 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided 2015-11-09 24.6 2.8 Pathogenic 0 -189871 Simple 794726719 G . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2015-06-24 10.2 2.5 Pathogenic/Likely pathogenic 1 -189881 Simple 794726726 - . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided;Early infantile epileptic encephalopathy 2017-03-16 16.8 1.3333333333333333 Pathogenic 0 -189886 Simple 794726730 A . Pathogenic 2 6 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided;Early infantile epileptic encephalopathy 2017-07-14 31.2 2.0 Pathogenic 0 -189892 Simple 794726736 A . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided;Early infantile epileptic encephalopathy 2017-06-19 16.8 1.3333333333333333 Pathogenic 0 -189896 Simple 794726739 A . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2014-12-20 9.6 3.0 Pathogenic/Likely pathogenic 1 -189911 Simple 794726752 A . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2016-06-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -189912 Simple 779614747 A . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided 2016-12-12 15.6 2.3333333333333335 Pathogenic 0 -189914 Simple 794726754 - . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2014-12-20 9.6 3.0 Pathogenic/Likely pathogenic 1 -189926 Simple 794726763 T . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2014-12-20 9.0 3.5 Pathogenic/Likely pathogenic 1 -189928 Simple 794726765 A . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2017-08-17 10.8 1.5 Pathogenic/Likely pathogenic 1 -189934 Simple 794726771 G . Pathogenic/Likely pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2014-12-20 6.9 3.5 Likely pathogenic 1 -189935 Simple 794726772 A . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2016-06-20 10.8 2.0 Pathogenic/Likely pathogenic 1 -189938 Simple 794726775 A . Pathogenic 2 5 Severe myoclonic epilepsy in infancy;not provided;Early infantile epileptic encephalopathy 2017-11-09 27.6 1.4 Pathogenic 0 -189963 Simple 794726799 A . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided;Early infantile epileptic encephalopathy 2017-06-07 16.8 1.0 Pathogenic 0 -189969 Simple 794726742 T . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2018-01-11 10.8 1.5 Pathogenic/Likely pathogenic 1 -189993 Simple 794726824 T . Pathogenic/Likely pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided;Early infantile epileptic encephalopathy 2017-07-11 12.6 2.0 Pathogenic/Likely pathogenic 0 -190007 Simple 794726835 A . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2016-08-23 10.8 2.0 Pathogenic/Likely pathogenic 1 -190013 Simple 794726841 A . Pathogenic/Likely pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2016-04-06 7.8 2.0 Likely pathogenic 1 -190123 Simple 200092283 T . Pathogenic 2 3 not provided;Microcephaly and chorioretinopathy, autosomal recessive, 3 2016-08-16 18.0 1.0 Pathogenic 0 -190147 Simple 371739894 A . Pathogenic 2 2 Cockayne syndrome B 2015-05-19 8.4 4.0 Pathogenic/Likely pathogenic 1 -190149 Simple 80133923 T . Likely benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -190153 Simple 4253132 A . Benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -190160 Simple 151242354 A . Pathogenic 2 2 Cockayne syndrome B;not provided 2017-05-23 9.6 2.5 Pathogenic/Likely pathogenic 1 -190163 Simple 373227647 C . Pathogenic 2 2 Cockayne syndrome B;not provided 2016-07-19 9.6 3.0 Pathogenic/Likely pathogenic 1 -190165 Simple 4253207 G . Likely benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -11.1 1.75 Benign/Likely benign 1 -190167 Simple 786205171 - . Pathogenic 2 2 Cockayne syndrome B;not provided 2015-05-14 9.0 3.5 Pathogenic/Likely pathogenic 1 -190177 Simple 4647100 G . Benign 2 3 Cockayne syndrome;not specified 2016-06-14 -15.0 2.6666666666666665 Benign/Likely benign 1 -190179 Simple 786205178 - . Pathogenic 2 2 Periventricular nodular heterotopia 1;not provided 2015-06-08 8.4 4.5 Pathogenic/Likely pathogenic 1 -190193 Simple 377390031 T . Uncertain significance 2 2 Periventricular nodular heterotopia 1;not specified 2014-10-01 -0.48 3.0 Uncertain significance 0 -190196 Simple 200835571 A . Benign/Likely benign 2 5 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-26 -18.0 2.4 Benign/Likely benign 0 -190206 Simple 1800975 C . Benign 2 2 Xeroderma pigmentosum;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -190214 Simple 2279017 G . Benign 2 2 Xeroderma pigmentosum;not specified 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -190215 Simple 2228001 T . drug response 3 3 Xeroderma pigmentosum;not specified;cisplatin response - Toxicity/ADR;Cardiomyopathy, ARVC . -12.6 2.3333333333333335 . 0 -190229 Simple 767215758 A . Pathogenic/Likely pathogenic 2 5 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-09-21 26.4 0.6 Pathogenic 1 -190286 Simple 863225082 A . Pathogenic 2 3 not provided;Mental retardation, autosomal dominant 35 2017-11-15 16.8 1.3333333333333333 Pathogenic 0 -190305 Simple 483352822 G . Pathogenic 2 3 not provided;Noonan syndrome 8 2017-11-03 18.0 0.3333333333333333 Pathogenic 0 -190312 Simple 786205227 T . Pathogenic 2 2 not provided;Mental retardation, autosomal dominant 36 2017-11-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -190328 Simple 786205232 T . Pathogenic 2 2 not provided;Epileptic encephalopathy, early infantile, 32 2017-07-26 12.0 0.0 Pathogenic/Likely pathogenic 1 -190401 Simple 121913648 - . Pathogenic 2 2 Myopathy, distal, 1;Hypertrophic cardiomyopathy 2017-10-18 12.0 0.0 Pathogenic/Likely pathogenic 1 -190497 Simple 34101758 C . Benign/Likely benign 2 4 Long QT syndrome;not specified;Cardiovascular phenotype 2017-03-17 -16.2 1.5 Benign/Likely benign 0 -190501 Simple 34953651 T . Likely benign 2 2 Long QT syndrome;not specified 2017-04-18 -5.7 1.0 Likely benign 0 -190503 Simple 142673316 T . Likely benign 2 2 not specified;not provided 2013-06-24 -3.6 5.0 Uncertain significance 2 -190506 Simple 144615758 G . Benign/Likely benign 2 3 Long QT syndrome;not specified;not provided 2016-12-21 -11.1 2.0 Benign/Likely benign 0 -190508 Simple 10644111 AACAAC . Benign/Likely benign 2 8 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-09-30 -34.8 2.5 Benign 1 -190509 Simple 144372406 C . Likely benign 2 2 Long QT syndrome;not specified 2017-04-26 -4.5 3.0 Likely benign 0 -190512 Simple 61757663 C . Likely benign 2 3 Long QT syndrome;not specified;not provided 2017-06-27 -6.6 3.3333333333333335 Likely benign 0 -190519 Simple 370475820 G . Uncertain significance 2 2 Long QT syndrome;not specified 2017-10-04 -0.5700000000000001 1.0 Uncertain significance 0 -190521 Simple 374775005 C . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-05-08 -7.8 1.5 Likely benign 1 -190525 Simple 750428090 G . Uncertain significance 2 2 Long QT syndrome;not specified 2016-06-29 -0.6 1.0 Uncertain significance 0 -190527 Simple 35956627 C . Benign/Likely benign 2 3 Long QT syndrome;not specified 2017-07-06 -13.8 1.3333333333333333 Benign/Likely benign 0 -190528 Simple 36210417 C . Benign/Likely benign 2 6 Long QT syndrome;not specified;Cardiovascular phenotype 2017-07-27 -27.3 1.6666666666666667 Benign 1 -190532 Simple 79577190 C . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-03-30 -9.0 0.5 Benign/Likely benign 0 -190533 Simple 144046572 T . Likely benign 2 2 Long QT syndrome;not specified 2017-07-12 -5.7 1.0 Likely benign 0 -190534 Simple 139797180 T . Likely benign 2 2 Long QT syndrome;not specified 2017-07-12 -6.0 0.5 Likely benign 0 -190537 Simple 786205718 T . Uncertain significance 2 2 Long QT syndrome;not specified 2015-02-13 -0.48 3.0 Uncertain significance 0 -190551 Simple 150488571 T . Uncertain significance 2 2 Long QT syndrome;not specified 2016-06-13 -0.48 3.0 Uncertain significance 0 -190561 Simple 151127289 A . Uncertain significance 2 3 Long QT syndrome;not specified 2017-01-31 -0.8999999999999999 1.0 Uncertain significance 0 -190562 Simple 773532854 C . Uncertain significance 2 2 Long QT syndrome;not specified 2017-06-14 -0.6 0.5 Uncertain significance 0 -190564 Simple 773701459 T . Uncertain significance 2 2 Long QT syndrome;not specified 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -190567 Simple 780110299 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-02-07 -0.51 2.5 Uncertain significance 0 -190568 Simple 34065266 A . Uncertain significance 2 2 Long QT syndrome;not specified 2016-11-26 -0.48 3.0 Uncertain significance 0 -190570 Simple 371357815 T . Uncertain significance 2 2 Long QT syndrome;not specified 2015-06-21 -0.54 2.0 Uncertain significance 0 -190572 Simple 765274871 T . Uncertain significance 2 2 not specified 2016-09-22 -0.5700000000000001 1.5 Uncertain significance 0 -190574 Simple 72556376 T . Uncertain significance 2 2 Long QT syndrome;not specified 2017-04-08 -0.5700000000000001 1.0 Uncertain significance 0 -190577 Simple 199549660 A . Uncertain significance 2 2 not specified;not provided 2015-11-30 -0.48 3.0 Uncertain significance 0 -190578 Simple 146476345 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-02-20 -0.5700000000000001 1.5 Uncertain significance 0 -190580 Simple 150808807 G . Uncertain significance 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-07-19 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -190586 Simple 786205729 A . Uncertain significance 2 2 Catecholaminergic polymorphic ventricular tachycardia type 1;not specified 2015-08-10 -0.48 3.0 Uncertain significance 0 -190590 Simple 769843073 C . Uncertain significance 2 2 Long QT syndrome;not specified 2016-03-11 -0.44999999999999996 3.5 Uncertain significance 0 -190592 Simple 186264035 T . Uncertain significance 2 2 not specified 2017-03-02 -0.6 1.0 Uncertain significance 0 -190602 Simple 375594801 C . Uncertain significance 2 2 not specified 2016-12-09 -0.51 2.5 Uncertain significance 0 -190621 Simple 147896322 A . Likely benign 2 2 Long QT syndrome;not specified 2017-04-17 -5.4 1.5 Likely benign 0 -190622 Simple 531161884 C . Uncertain significance 2 2 Long QT syndrome;not specified 2017-03-09 -0.6 0.5 Uncertain significance 0 -190623 Simple 534589273 G . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-05-08 -7.8 1.5 Likely benign 1 -190624 Simple 201861473 T . Benign 2 2 Long QT syndrome;not specified 2017-07-05 -10.8 1.5 Benign/Likely benign 1 -190625 Simple 200283756 A . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-07-31 -11.7 1.0 Benign/Likely benign 0 -190632 Simple 786205744 A . Uncertain significance 2 2 Sudden cardiac death;not specified 2015-09-10 -0.51 2.5 Uncertain significance 0 -190634 Simple 786205745 C . Pathogenic 2 2 Timothy syndrome;not provided 2015-09-03 9.0 3.5 Pathogenic/Likely pathogenic 1 -190635 Simple 786205746 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-06-09 -0.51 2.0 Uncertain significance 0 -190642 Simple 786205748 T . Pathogenic 2 2 Long QT syndrome;not provided 2017-07-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -190643 Simple 777945001 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-06-23 -0.48 2.5 Uncertain significance 0 -190645 Simple 757507674 T . Uncertain significance 2 2 Long QT syndrome;not specified 2017-02-11 -0.51 2.5 Uncertain significance 0 -190646 Simple 768270021 A . Uncertain significance 2 3 Timothy syndrome;Brugada syndrome;not specified 2017-10-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -190652 Simple 145549773 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-01-20 -0.54 2.0 Uncertain significance 0 -190656 Simple 786205755 A . Uncertain significance 2 2 Long QT syndrome;not specified 2016-10-05 -0.51 2.5 Uncertain significance 0 -190664 Simple 367895193 A . Uncertain significance 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-01-17 -1.2 1.0 Uncertain significance 0 -190675 Simple 773211348 T . Uncertain significance 2 2 Long QT syndrome;not specified 2017-02-07 -0.48 3.0 Uncertain significance 0 -190678 Simple 531598856 G . Uncertain significance 2 2 Long QT syndrome;not specified 2017-03-06 -0.51 2.0 Uncertain significance 0 -190684 Simple 786205767 A . Uncertain significance 2 2 not specified 2014-06-23 -0.44999999999999996 3.5 Uncertain significance 0 -190688 Simple 371760034 T . Uncertain significance 2 2 Long QT syndrome;not specified 2016-07-02 -0.54 2.0 Uncertain significance 0 -190695 Simple 786205774 GG . Uncertain significance 2 2 Long QT syndrome;not specified 2016-11-12 -0.6 1.0 Uncertain significance 0 -190699 Simple 760888275 T . Uncertain significance 2 3 Timothy syndrome;Brugada syndrome;not specified 2016-10-20 -0.8999999999999999 1.0 Uncertain significance 0 -190709 Simple 752000790 A . Uncertain significance 2 3 Timothy syndrome;Brugada syndrome;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -190710 Simple 761378545 C . Uncertain significance 2 2 Long QT syndrome;not specified 2017-03-07 -0.5700000000000001 1.0 Uncertain significance 0 -190715 Simple 149586418 C . Benign 2 2 Brugada syndrome 4;not specified 2017-06-02 -10.8 1.5 Benign/Likely benign 1 -190718 Simple 77141223 T . Likely benign 2 2 Brugada syndrome 4;not specified 2016-11-16 -6.0 1.0 Likely benign 0 -190736 Simple 61733968 T . Uncertain significance 2 2 not specified;not provided 2017-09-21 -0.51 2.0 Uncertain significance 0 -190737 Simple 367619172 A . Uncertain significance 2 2 not specified;Short QT Syndrome 5 2016-01-27 -0.51 2.5 Uncertain significance 0 -190747 Simple 28730713 A . Uncertain significance 2 3 not specified;not provided;Catecholaminergic polymorphic ventricular tachycardia 2016-12-25 -0.8099999999999999 2.0 Uncertain significance 0 -190755 Simple 139228801 A . Pathogenic 2 2 not provided;Catecholaminergic polymorphic ventricular tachycardia 2017-02-06 9.0 3.5 Pathogenic/Likely pathogenic 1 -190757 Simple 786205797 C . Uncertain significance 2 2 Ventricular tachycardia, catecholaminergic polymorphic, 2;not specified 2016-12-29 -0.54 2.0 Uncertain significance 0 -190760 Simple 34278284 C . Benign/Likely benign 2 3 Brugada syndrome;not specified 2017-07-04 -13.8 1.3333333333333333 Benign/Likely benign 0 -190761 Simple 72546650 A . Benign/Likely benign 2 3 Brugada syndrome;not specified 2017-07-04 -13.8 1.3333333333333333 Benign/Likely benign 0 -190762 Simple 61741845 A . Benign/Likely benign 2 3 Brugada syndrome;not specified 2017-07-04 -13.8 1.3333333333333333 Benign/Likely benign 0 -190763 Simple 72558073 G . Benign/Likely benign 2 3 Brugada syndrome;not specified 2017-05-16 -13.8 1.3333333333333333 Benign/Likely benign 0 -190768 Simple 199838832 A . Benign 2 3 Brugada syndrome 8;not specified 2017-07-31 -16.2 1.6666666666666667 Benign/Likely benign 1 -190769 Simple 62641690 T . Benign 2 2 Brugada syndrome 8;not specified 2017-07-28 -10.8 1.5 Benign/Likely benign 1 -190773 Simple 200575377 A . Benign 2 3 Brugada syndrome 8;not specified 2017-05-10 -16.8 1.3333333333333333 Benign/Likely benign 1 -190774 Simple 199638465 A . Uncertain significance 2 2 not specified 2017-08-08 -0.6 0.0 Uncertain significance 0 -190775 Simple 144450232 A . Benign 2 3 Brugada syndrome 8;not specified 2017-07-28 -15.6 2.0 Benign/Likely benign 1 -190776 Simple 186728422 C . Benign 2 3 Brugada syndrome 8;not specified 2017-07-31 -16.2 1.6666666666666667 Benign/Likely benign 1 -190785 Simple 774674047 - . Uncertain significance 2 3 Brugada syndrome 8;not specified 2017-07-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -190786 Simple 773857091 T . Uncertain significance 2 2 Brugada syndrome 8;not specified 2017-07-28 -0.6 0.5 Uncertain significance 0 -190787 Simple 542532555 A . Uncertain significance 2 3 Brugada syndrome 8;not specified;Hypertrophic cardiomyopathy 2017-04-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -190788 Simple 201375192 A . Uncertain significance 2 2 not specified;not provided 2014-10-31 -0.44999999999999996 3.5 Uncertain significance 0 -190789 Simple 761337460 T . Uncertain significance 2 2 Brugada syndrome 8;not specified 2017-03-23 -0.54 1.5 Uncertain significance 0 -190792 Simple 187917779 A . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2015-06-09 -7.5 2.5 Likely benign 1 -190793 Simple 786205806 A . Uncertain significance 2 4 Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation 2017-01-12 -1.2 1.0 Uncertain significance 0 -190800 Simple 547194943 A . Uncertain significance 2 2 Brugada syndrome 6;not specified 2017-04-23 -0.54 1.5 Uncertain significance 0 -190813 Simple 199473384 T . Uncertain significance 2 2 Andersen Tawil syndrome;Short QT syndrome 3;not specified 2016-07-16 -0.5700000000000001 1.5 Uncertain significance 0 -190821 Simple 202067116 T . Uncertain significance 2 3 Andersen Tawil syndrome;not specified;Ventricular fibrillation 2017-03-17 -0.81 1.6666666666666667 Uncertain significance 0 -190824 Simple 529755922 A . Uncertain significance 2 2 Long QT syndrome;not specified 2016-11-26 -0.54 2.0 Uncertain significance 0 -190825 Simple 372447456 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-10-26 -0.6 0.0 Uncertain significance 0 -190832 Simple 117808169 C . Uncertain significance 2 2 Brugada syndrome;not specified 2017-05-19 -0.6 0.5 Uncertain significance 0 -190837 Simple 113818864 G . Likely benign 2 2 Atrial septal defect 7 with or without atrioventricular conduction defects;not specified 2017-06-28 -6.0 0.5 Likely benign 0 -190841 Simple 150856064 T . Uncertain significance 2 2 Cardiac arrhythmia;not specified 2016-10-04 -0.6 1.0 Uncertain significance 0 -190845 Simple 140704891 T . Benign/Likely benign 2 2 Cardiac arrhythmia;not specified 2017-06-10 -8.7 1.0 Benign/Likely benign 0 -190848 Simple 769132369 T . Benign/Likely benign 2 2 Brugada syndrome 5;not specified 2017-07-27 -7.8 1.5 Likely benign 1 -190850 Simple 72558028 A . Benign/Likely benign 2 2 Brugada syndrome 5;not specified 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -190857 Simple 180943300 A . Uncertain significance 2 2 Brugada syndrome 5;not specified 2017-06-29 -0.54 1.5 Uncertain significance 0 -190858 Simple 746782800 T . Uncertain significance 2 2 Brugada syndrome 5;not specified 2017-02-17 -0.51 2.5 Uncertain significance 0 -190860 Simple 138381632 A . Uncertain significance 2 2 Brugada syndrome 5;not specified 2017-04-04 -0.6 0.5 Uncertain significance 0 -190866 Simple 754815235 T . Uncertain significance 2 2 Brugada syndrome 5;not specified 2017-08-28 -0.6 0.0 Uncertain significance 0 -190870 Simple 786205834 C . Uncertain significance 2 3 not specified 2017-07-20 -0.87 0.6666666666666666 Uncertain significance 0 -190883 Simple 34964168 A . Benign 2 2 Brugada syndrome 7;not specified 2016-10-11 -10.8 2.0 Benign/Likely benign 1 -190885 Simple 115752338 A . Benign/Likely benign 2 4 Brugada syndrome 7;Brugada syndrome;not specified;Cardiovascular phenotype 2017-06-19 -19.8 1.25 Benign/Likely benign 0 -190891 Simple 112363898 A . Uncertain significance 2 2 not specified;not provided 2017-09-22 -0.51 2.0 Uncertain significance 0 -190903 Simple 786205841 T . Uncertain significance 2 3 Long QT syndrome;Romano-Ward syndrome;not specified 2016-11-17 -0.8999999999999999 1.0 Uncertain significance 0 -190907 Simple 766925398 G . Uncertain significance 2 3 Long QT syndrome;not specified 2017-03-01 -0.87 1.3333333333333333 Uncertain significance 0 -190911 Simple 34479952 T . Uncertain significance 2 2 Long QT syndrome;not specified 2017-03-09 -0.6 0.5 Uncertain significance 0 -190914 Simple 150576530 A . Uncertain significance 2 6 Long QT syndrome;Romano-Ward syndrome;not specified;not provided 2017-08-15 -1.68 1.3333333333333333 Uncertain significance 0 -190917 Simple 575431717 T . Uncertain significance 2 2 Long QT syndrome;not specified 2017-05-07 -0.54 1.5 Uncertain significance 0 -190918 Simple 147964932 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-05-11 -0.5700000000000001 1.0 Uncertain significance 0 -190920 Simple 533902889 A . Uncertain significance 2 2 Long QT syndrome;not specified 2016-05-15 -0.54 2.0 Uncertain significance 0 -190921 Simple 751302839 T . Uncertain significance 2 3 Long QT syndrome;Romano-Ward syndrome;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -190930 Simple 141724500 T . Uncertain significance 2 2 not specified;not provided 2017-07-13 -0.51 2.0 Uncertain significance 0 -190932 Simple 786205846 T . Uncertain significance 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2016-08-16 -0.8999999999999999 1.0 Uncertain significance 0 -190933 Simple 786205847 T . Uncertain significance 2 2 Long QT syndrome;not specified 2016-01-01 -0.51 2.5 Uncertain significance 0 -190974 Simple 112039851 C . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -191042 Simple 786205483 G . Pathogenic/Likely pathogenic 2 1 Aicardi Goutieres syndrome 2;not provided 2016-02-22 . 2.0 . 0 -191059 Simple 2723341 C . Pathogenic/Likely pathogenic 2 3 Retinitis pigmentosa 37;not specified;not provided;Retinal dystrophy;NR2E3-Related Disorders 2017-05-05 18.0 0.6666666666666666 Pathogenic 1 -191097 Simple 786205515 T . Pathogenic/Likely pathogenic 2 1 not provided 2017-10-13 . 0.0 . 0 -191152 Simple 532757890 A . Pathogenic/Likely pathogenic 2 1 not provided;Arthrogryposis, distal, type 5d 2016-06-01 . 1.0 . 0 -191226 Simple 773734224 A . Likely pathogenic 2 1 not provided 2016-12-31 . 1.0 . 0 -191251 Simple 786205604 A . Pathogenic/Likely pathogenic 2 1 not provided 2017-01-13 . 1.0 . 0 -191259 Simple 786205608 G . Pathogenic/Likely pathogenic 2 1 not provided 2016-08-01 . 1.0 . 0 -191289 Simple 786205626 - . Likely pathogenic 2 1 Bothnia retinal dystrophy;not provided 2014-02-04 . 4.0 . 0 -191300 Simple 1366813 C . Benign/Likely benign 2 2 not specified;Xanthinuria 2016-09-28 -9.0 1.0 Benign/Likely benign 0 -191301 Simple 200536754 - . Benign/Likely benign 2 3 Doyne honeycomb retinal dystrophy;not specified 2016-09-28 -13.8 1.6666666666666667 Benign/Likely benign 0 -191313 Simple 786205640 - . Pathogenic/Likely pathogenic 2 1 not provided 2017-01-23 . 1.0 . 0 -191341 Simple 750542962 - . Likely pathogenic 2 1 not provided 2017-07-28 . 0.0 . 0 -191399 Simple 139197937 G . Uncertain significance 2 2 not provided;Cardiovascular phenotype 2015-12-19 -0.48 3.0 Uncertain significance 0 -191423 Simple 202216172 T . Uncertain significance 2 2 not specified;not provided 2015-04-17 -0.48 3.0 Uncertain significance 0 -191427 Simple 374528680 C . Uncertain significance 2 4 Timothy syndrome;Brugada syndrome 3;Long QT syndrome;not specified;not provided 2017-05-23 -1.02 2.25 Uncertain significance 0 -191429 Simple 373263114 C . Uncertain significance 2 2 not specified;not provided 2016-12-30 -0.51 2.5 Uncertain significance 0 -191432 Simple 368719191 A . Uncertain significance 2 2 Brugada syndrome;not provided 2016-06-14 -0.51 2.5 Uncertain significance 0 -191441 Simple 200899037 C . Uncertain significance 2 2 not provided;Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 -0.51 2.5 Uncertain significance 0 -191442 Simple 200265771 T . Uncertain significance 2 2 not specified;not provided 2017-06-06 -0.51 2.0 Uncertain significance 0 -191447 Simple 786205268 A . Uncertain significance 2 2 Brugada syndrome;not provided 2017-07-20 -0.51 2.0 Uncertain significance 0 -191453 Simple 200737571 T . Uncertain significance 2 2 not specified;not provided 2017-08-25 -0.51 2.0 Uncertain significance 0 -191456 Simple 377036305 C . Uncertain significance 2 3 Atrial fibrillation, familial, 7;not provided;Familial atrial fibrillation 2017-04-24 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -191466 Simple 200963514 A . Uncertain significance 2 3 Long QT syndrome;not specified;not provided 2017-08-11 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -191469 Simple 786205422 C . Uncertain significance 2 2 Long QT syndrome;not provided 2017-05-30 -0.51 2.0 Uncertain significance 0 -191471 Simple 139247073 T . Uncertain significance 2 2 not specified;not provided 2016-12-01 -0.51 2.5 Uncertain significance 0 -191473 Simple 200343670 C . Uncertain significance 2 2 Long QT syndrome;not provided 2017-04-14 -0.51 2.0 Uncertain significance 0 -191476 Simple 200108320 T . Uncertain significance 2 3 not specified;not provided 2017-05-05 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -191483 Simple 200318013 G . Uncertain significance 2 3 not specified;not provided 2016-02-10 -0.72 3.0 Uncertain significance 0 -191488 Simple 559154874 T . Uncertain significance 2 2 not specified;not provided 2016-05-02 -0.51 2.5 Uncertain significance 0 -191491 Simple 199624074 T . Uncertain significance 2 2 not specified;not provided 2015-10-30 -0.48 3.0 Uncertain significance 0 -191499 Simple 786205271 A . Uncertain significance 2 2 Brugada syndrome;not provided 2016-12-21 -0.51 2.5 Uncertain significance 0 -191510 Simple 201405395 T . Uncertain significance 2 2 not specified;not provided 2017-08-31 -0.51 2.0 Uncertain significance 0 -191512 Simple 201421292 G . Uncertain significance 2 2 Long QT syndrome 12;not provided 2017-05-15 -0.51 2.0 Uncertain significance 0 -191520 Simple 76177450 C . Benign/Likely benign 2 3 Long QT syndrome;not provided;Cardiovascular phenotype 2017-09-08 -11.1 1.3333333333333333 Benign/Likely benign 0 -191523 Simple 201048693 G . Benign/Likely benign 2 2 Long QT syndrome;not provided 2017-04-20 -8.1 2.0 Likely benign 1 -191524 Simple 78351282 A . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not provided;Cardiovascular phenotype 2017-07-28 -20.1 1.4 Benign/Likely benign 0 -191528 Simple 186148498 A . Benign/Likely benign 2 2 Long QT syndrome;not provided 2017-07-11 -8.1 2.0 Likely benign 1 -191531 Simple 141856443 A . Benign/Likely benign 2 3 Long QT syndrome;not provided;Cardiovascular phenotype 2017-08-02 -11.1 1.3333333333333333 Benign/Likely benign 0 -191540 Simple 145895389 T . Benign/Likely benign 2 4 Long QT syndrome;not specified;not provided;Cardiovascular phenotype 2017-08-09 -14.1 1.25 Benign/Likely benign 0 -191541 Simple 149963885 A . Likely benign 2 4 Long QT syndrome;not specified;not provided 2017-10-09 -11.1 1.25 Benign/Likely benign 1 -191543 Simple 201873431 A . Benign/Likely benign 2 2 not specified;not provided 2014-06-03 -6.9 3.5 Likely benign 1 -191545 Simple 147512481 G . Likely benign 2 2 not provided;Catecholaminergic polymorphic ventricular tachycardia 2017-06-22 -5.1 2.0 Likely benign 0 -191549 Simple 35669569 T . Benign/Likely benign 2 6 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2017-08-04 -27.0 1.6666666666666667 Benign 1 -191550 Simple 60031334 A . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;not specified 2017-07-03 -16.2 1.5 Benign/Likely benign 0 -191551 Simple 143894795 C . Benign 2 2 Long QT syndrome;not specified 2017-03-29 -10.2 2.0 Benign/Likely benign 1 -191552 Simple 146797353 A . Benign/Likely benign 2 6 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2017-07-26 -27.6 1.5 Benign 1 -191553 Simple 73407505 C . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2017-07-28 -21.6 1.6 Benign/Likely benign 0 -191554 Simple 34086871 C . Benign 2 2 Long QT syndrome;not specified 2016-07-04 -10.2 2.5 Benign/Likely benign 1 -191555 Simple 61757673 G . Benign 2 2 Long QT syndrome;not specified 2017-07-31 -10.2 2.0 Benign/Likely benign 1 -191556 Simple 34956633 G . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2017-07-31 -21.6 1.6 Benign/Likely benign 0 -191557 Simple 142729919 G . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;not specified 2017-06-28 -16.2 1.5 Benign/Likely benign 0 -191558 Simple 61734478 A . Benign 2 3 Long QT syndrome;not specified 2017-07-13 -16.2 1.6666666666666667 Benign/Likely benign 1 -191559 Simple 61734477 T . Benign 2 3 Long QT syndrome;not specified 2017-07-13 -16.2 1.6666666666666667 Benign/Likely benign 1 -191560 Simple 3733617 T . Benign/Likely benign 2 4 Long QT syndrome;not specified;Cardiovascular phenotype 2016-06-14 -18.6 2.0 Benign/Likely benign 0 -191561 Simple 74348333 A . Benign/Likely benign 2 3 Long QT syndrome;not specified 2017-07-31 -13.2 1.6666666666666667 Benign/Likely benign 0 -191562 Simple 61741040 G . Benign/Likely benign 2 5 Long QT syndrome;not specified;not provided 2017-03-16 -22.2 1.4 Benign/Likely benign 0 -191563 Simple 34270799 A . Benign/Likely benign 2 4 Long QT syndrome;not specified;Cardiovascular phenotype 2017-08-08 -18.6 1.75 Benign/Likely benign 0 -191565 Simple 111298509 A . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-07-31 -16.2 1.5 Benign/Likely benign 0 -191567 Simple 201777030 T . Benign 2 2 Long QT syndrome;not specified 2017-07-25 -10.2 2.0 Benign/Likely benign 1 -191570 Simple 12720442 A . Benign/Likely benign 2 4 Atrial fibrillation, familial, 7;not specified;Familial atrial fibrillation 2017-07-06 -19.2 1.5 Benign/Likely benign 0 -191571 Simple 17215402 T . Benign 2 2 Atrial fibrillation, familial, 7;not specified 2017-07-20 -10.2 2.0 Benign/Likely benign 1 -191573 Simple 12720445 A . Benign 2 3 Atrial fibrillation, familial, 7;Brugada syndrome 1;not specified 2017-08-03 -16.2 1.3333333333333333 Benign/Likely benign 1 -191576 Simple 75025585 T . Benign/Likely benign 2 5 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2017-07-25 -21.6 1.6 Benign/Likely benign 0 -191584 Simple 199900459 T . Uncertain significance 2 3 Dilated cardiomyopathy 1O;not specified;not provided 2017-01-19 -0.8099999999999999 2.0 Uncertain significance 0 -191586 Simple 201838439 T . Uncertain significance 2 2 not specified;not provided 2017-05-25 -0.51 2.0 Uncertain significance 0 -191594 Simple 566860712 T . Uncertain significance 2 2 not specified;not provided 2015-04-04 -0.48 3.0 Uncertain significance 0 -191595 Simple 199604590 T . Uncertain significance 2 2 not specified;not provided 2017-05-05 -0.51 2.0 Uncertain significance 0 -191601 Simple 148972050 A . Uncertain significance 2 3 not specified;not provided 2016-05-24 -0.75 2.6666666666666665 Uncertain significance 0 -191602 Simple 374486076 C . Uncertain significance 2 2 not provided;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.51 2.5 Uncertain significance 0 -191603 Simple 200061926 A . Uncertain significance 2 2 not specified;not provided 2016-05-18 -0.51 2.5 Uncertain significance 0 -191610 Simple 786205347 G . Uncertain significance 2 2 not specified;not provided 2017-02-08 -0.51 2.5 Uncertain significance 0 -191611 Simple 200242752 T . Uncertain significance 2 2 not specified;not provided 2016-11-08 -0.51 2.5 Uncertain significance 0 -191619 Simple 139290300 T . Uncertain significance 2 3 not specified;not provided 2016-07-05 -0.75 2.6666666666666665 Uncertain significance 0 -191620 Simple 146029947 T . Uncertain significance 2 3 not specified;not provided;Cardiovascular phenotype 2017-01-04 -0.8099999999999999 2.0 Uncertain significance 0 -191623 Simple 199682735 A . Uncertain significance 2 4 not specified;not provided;Cardiomyopathy, ARVC 2017-02-14 -1.08 2.0 Uncertain significance 0 -191624 Simple 373201722 G . Uncertain significance 2 2 not specified;not provided 2017-07-21 -0.51 2.0 Uncertain significance 0 -191626 Simple 199842209 A . Uncertain significance 2 2 not specified;not provided 2016-06-01 -0.51 2.5 Uncertain significance 0 -191629 Simple 201046640 A . Uncertain significance 2 2 not provided;Cardiac arrest 2015-11-18 -0.48 3.0 Uncertain significance 0 -191633 Simple 2848673 G . Uncertain significance 2 2 not specified;not provided 2015-03-11 -0.48 3.0 Uncertain significance 0 -191635 Simple 201960323 C . Uncertain significance 2 2 not specified;not provided 2017-09-08 -0.51 2.0 Uncertain significance 0 -191639 Simple 202049575 G . Uncertain significance 2 2 not specified;not provided 2015-10-05 -0.48 3.0 Uncertain significance 0 -191643 Simple 199597935 A . Uncertain significance 2 2 not specified;not provided 2016-02-24 -0.48 3.0 Uncertain significance 0 -191644 Simple 752616130 G . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided 2017-01-23 -0.51 2.5 Uncertain significance 0 -191646 Simple 201826850 T . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided 2017-06-26 -0.51 2.0 Uncertain significance 0 -191652 Simple 142108185 A . Uncertain significance 2 2 not specified;not provided 2017-09-25 -0.51 2.0 Uncertain significance 0 -191657 Simple 200593099 C . Uncertain significance 2 2 Dilated cardiomyopathy 1J;not provided 2016-12-30 -0.51 2.5 Uncertain significance 0 -191658 Simple 200688814 G . Uncertain significance 2 2 Dilated cardiomyopathy 1J;not provided 2016-11-03 -0.51 2.5 Uncertain significance 0 -191661 Simple 755455584 T . Uncertain significance 2 2 Dilated cardiomyopathy 1J;not provided 2017-05-31 -0.51 2.0 Uncertain significance 0 -191665 Simple 200300314 G . Uncertain significance 2 2 Dilated cardiomyopathy 1J;not provided 2016-10-08 -0.51 2.5 Uncertain significance 0 -191668 Simple 778410296 C . Uncertain significance 2 2 not specified;not provided 2015-04-16 -0.48 3.0 Uncertain significance 0 -191670 Simple 752594411 G . Uncertain significance 2 2 not specified;not provided 2017-04-18 -0.51 2.0 Uncertain significance 0 -191671 Simple 142213474 A . Uncertain significance 2 2 not specified;not provided 2016-02-22 -0.48 3.0 Uncertain significance 0 -191675 Simple 368336007 A . Uncertain significance 2 5 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;Primary familial hypertrophic cardiomyopathy;not provided;Dilated cardiomyopathy;Cardiovascular phenotype 2016-10-26 -1.35 2.0 Uncertain significance 0 -191676 Simple 149004293 T . Uncertain significance 2 2 not specified;not provided 2017-02-01 -0.51 2.5 Uncertain significance 0 -191680 Simple 199938033 A . Uncertain significance 2 2 not specified;not provided 2015-03-03 -0.44999999999999996 3.5 Uncertain significance 0 -191696 Simple 200458194 A . Uncertain significance 2 2 not specified;not provided 2014-07-30 -0.44999999999999996 3.5 Uncertain significance 0 -191697 Simple 201417512 A . Uncertain significance 2 2 not specified;not provided 2016-12-29 -0.51 2.5 Uncertain significance 0 -191710 Simple 201683868 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;not provided 2016-11-29 -0.51 2.5 Uncertain significance 0 -191711 Simple 201989347 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;not provided 2016-12-29 -0.51 2.5 Uncertain significance 0 -191712 Simple 150815925 T . Uncertain significance 2 5 Atrial septal defect;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.38 1.8 Uncertain significance 0 -191717 Simple 372446459 T . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 14;not specified;not provided 2017-07-26 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -191718 Simple 369274077 A . Uncertain significance 2 2 not provided;Heart disease 2015-07-01 -0.48 3.0 Uncertain significance 0 -191728 Simple 745414245 A . Uncertain significance 2 8 Myosin storage myopathy;Myopathy, distal, 1;not provided;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Sudden unexplained death;Dilated Cardiomyopathy, Dominant 2016-06-14 -2.28 1.5 Uncertain significance 0 -191740 Simple 41293104 A . Uncertain significance 2 4 Familial hypertrophic cardiomyopathy 1;not specified;not provided 2017-04-07 -1.08 1.75 Uncertain significance 0 -191742 Simple 138061447 A . Uncertain significance 2 2 not specified;not provided 2014-04-15 -0.44999999999999996 3.5 Uncertain significance 0 -191745 Simple 200428820 T . Uncertain significance 2 2 not provided;Hypertrophic cardiomyopathy 2017-03-07 -0.51 2.0 Uncertain significance 0 -191746 Simple 370768715 C . Uncertain significance 2 2 not specified;not provided 2014-09-18 -0.44999999999999996 3.5 Uncertain significance 0 -191748 Simple 185841477 T . Uncertain significance 2 2 not provided;Dilated cardiomyopathy 1KK 2016-09-26 -0.51 2.5 Uncertain significance 0 -191751 Simple 144031245 G . Uncertain significance 2 2 not specified;not provided 2014-04-09 -0.44999999999999996 3.5 Uncertain significance 0 -191754 Simple 200432306 A . Uncertain significance 2 2 not provided;Dilated cardiomyopathy 1KK 2017-03-22 -0.51 2.0 Uncertain significance 0 -191759 Simple 142877365 A . Uncertain significance 2 6 not specified;not provided;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-04-27 -1.5899999999999999 2.0 Uncertain significance 0 -191760 Simple 142354704 T . Uncertain significance 2 2 not specified;not provided 2017-05-26 -0.51 2.0 Uncertain significance 0 -191761 Simple 202094467 T . Uncertain significance 2 2 not specified;not provided 2015-06-25 -0.48 3.0 Uncertain significance 0 -191779 Simple 142601521 A . Uncertain significance 2 2 not specified;not provided 2016-12-06 -0.51 2.5 Uncertain significance 0 -191793 Simple 373861992 G . Uncertain significance 2 2 not provided;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.51 2.5 Uncertain significance 0 -191802 Simple 201813515 T . Uncertain significance 2 2 not specified;not provided 2017-09-06 -0.51 2.0 Uncertain significance 0 -191804 Simple 142336788 C . Uncertain significance 2 2 not specified;not provided 2016-08-17 -0.51 2.5 Uncertain significance 0 -191809 Simple 369703073 T . Uncertain significance 2 2 not specified;not provided 2013-10-30 -0.42 4.0 Uncertain significance 0 -191811 Simple 200123047 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-09-23 -0.75 2.6666666666666665 Uncertain significance 0 -191812 Simple 370137295 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-23 -1.08 1.75 Uncertain significance 0 -191817 Simple 374444254 A . Uncertain significance 2 2 not specified;not provided 2014-09-23 -0.44999999999999996 3.5 Uncertain significance 0 -191818 Simple 777626473 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-05-16 -0.51 2.0 Uncertain significance 0 -191825 Simple 199594729 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-07-21 -0.51 2.5 Uncertain significance 0 -191826 Simple 752263533 C . Uncertain significance 2 2 not specified;not provided 2014-09-18 -0.44999999999999996 3.5 Uncertain significance 0 -191827 Simple 201857158 T . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;not provided;Cardiovascular phenotype 2017-08-01 -1.3199999999999998 1.6 Uncertain significance 0 -191829 Simple 201112096 T . Uncertain significance 2 9 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-24 -2.61 1.1111111111111112 Uncertain significance 0 -191834 Simple 201931674 T . Uncertain significance 2 3 not specified;not provided 2015-08-18 -0.72 3.0 Uncertain significance 0 -191835 Simple 186405108 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-15 -0.78 2.0 Uncertain significance 0 -191836 Simple 752015224 T . Uncertain significance 2 2 Dilated cardiomyopathy 1S;not specified;not provided 2016-05-01 -0.44999999999999996 3.5 Uncertain significance 0 -191838 Simple 199647622 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-06-20 -0.51 2.0 Uncertain significance 0 -191840 Simple 111616037 T . Uncertain significance 2 2 not specified;not provided 2015-09-04 -0.48 3.0 Uncertain significance 0 -191845 Simple 762265902 C . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-12-20 -2.31 1.375 Uncertain significance 0 -191848 Simple 763832963 C . Uncertain significance 2 2 not specified;not provided 2014-08-03 -0.44999999999999996 3.5 Uncertain significance 0 -191854 Simple 369342933 G . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.01 1.4285714285714286 Uncertain significance 0 -191858 Simple 72648240 C . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-09 -0.99 2.5 Uncertain significance 0 -191860 Simple 200503016 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-07-25 -1.08 1.75 Uncertain significance 0 -191863 Simple 373738818 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-11-12 -0.51 2.5 Uncertain significance 0 -191868 Simple 371539720 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-02-22 -0.48 3.0 Uncertain significance 0 -191869 Simple 554841820 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-07 -0.75 2.3333333333333335 Uncertain significance 0 -191871 Simple 539595292 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-09-20 -0.51 2.5 Uncertain significance 0 -191874 Simple 768262273 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-04-12 -0.51 2.0 Uncertain significance 0 -191887 Simple 202149931 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-07-13 -0.51 2.0 Uncertain significance 0 -191894 Simple 201776072 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-03-24 -0.51 2.0 Uncertain significance 0 -191904 Simple 199755820 C . Uncertain significance 2 3 not specified;not provided;Cardiovascular phenotype 2016-09-22 -0.72 3.0 Uncertain significance 0 -191906 Simple 375202101 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-07-10 -0.78 2.3333333333333335 Uncertain significance 0 -191909 Simple 370890454 T . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-07-21 -1.29 2.2 Uncertain significance 0 -191910 Simple 112484439 T . Uncertain significance 2 2 not provided;Bilateral talipes equinovarus;Restrictive deficit on pulmonary function testing;Areflexia of lower limbs;Spinal rigidity;Thoracic kyphoscoliosis 2014-06-11 -0.44999999999999996 3.5 Uncertain significance 0 -191911 Simple 374492812 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-04-17 -0.8999999999999999 3.25 Uncertain significance 0 -191912 Simple 758700425 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2015-11-30 -0.48 3.0 Uncertain significance 0 -191914 Simple 201223583 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-07-16 -0.51 2.5 Uncertain significance 0 -191917 Simple 187257105 T . Uncertain significance 2 2 not specified;not provided 2014-06-20 -0.44999999999999996 3.5 Uncertain significance 0 -191918 Simple 201420486 C . Uncertain significance 2 2 not specified;not provided 2015-08-18 -0.48 3.0 Uncertain significance 0 -191923 Simple 199505416 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-12 -0.72 2.6666666666666665 Uncertain significance 0 -191926 Simple 201226615 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-08-06 -0.51 2.5 Uncertain significance 0 -191930 Simple 373062007 T . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-20 -2.58 1.3333333333333333 Uncertain significance 0 -191935 Simple 188185141 C . Uncertain significance 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-27 -1.65 1.6666666666666667 Uncertain significance 0 -191937 Simple 78509062 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-05 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -191939 Simple 200132226 A . Uncertain significance 2 3 not specified;not provided;Cardiovascular phenotype 2016-09-23 -0.78 2.3333333333333335 Uncertain significance 0 -191940 Simple 201774108 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-12-25 -0.51 2.5 Uncertain significance 0 -191941 Simple 772677752 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-12-30 -1.02 2.5 Uncertain significance 0 -191942 Simple 372541479 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-02-09 -0.8099999999999999 2.0 Uncertain significance 0 -191945 Simple 201802447 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-06-05 -0.51 2.0 Uncertain significance 0 -191947 Simple 755252821 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-10-08 -0.51 2.5 Uncertain significance 0 -191950 Simple 768914789 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.01 1.4285714285714286 Uncertain significance 0 -191952 Simple 199768159 A . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-02-20 -2.55 1.5555555555555556 Uncertain significance 0 -191953 Simple 199954570 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-06-28 -0.51 2.0 Uncertain significance 0 -191956 Simple 765032242 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-02-25 -0.51 2.5 Uncertain significance 0 -191957 Simple 184815126 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-05-16 -0.51 2.0 Uncertain significance 0 -191958 Simple 780334981 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-12-05 -0.75 2.6666666666666665 Uncertain significance 0 -191967 Simple 531051064 G . Uncertain significance 2 2 not specified;not provided 2017-04-07 -0.51 2.0 Uncertain significance 0 -191968 Simple 181902304 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-05-08 -0.51 2.0 Uncertain significance 0 -191971 Simple 201257644 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-03-31 -1.08 1.75 Uncertain significance 0 -191972 Simple 764850788 T . Uncertain significance 2 2 not specified;not provided 2015-08-21 -0.48 3.0 Uncertain significance 0 -191977 Simple 543338451 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2015-12-01 -0.48 3.0 Uncertain significance 0 -191979 Simple 777119867 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;Inborn genetic diseases 2015-12-16 -0.66 3.6666666666666665 Uncertain significance 0 -191982 Simple 202075225 A . Uncertain significance 2 2 not specified;not provided 2013-11-14 -0.42 4.0 Uncertain significance 0 -191984 Simple 786205395 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-05-11 -0.51 2.0 Uncertain significance 0 -191988 Simple 199868380 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-08-04 -0.51 2.0 Uncertain significance 0 -191989 Simple 200321949 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-04-03 -0.51 2.0 Uncertain significance 0 -191996 Simple 376287951 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-04-20 -0.78 2.0 Uncertain significance 0 -191998 Simple 779015756 G . Uncertain significance 2 2 not specified;not provided 2015-09-16 -0.48 3.0 Uncertain significance 0 -192001 Simple 200489972 A . Uncertain significance 2 2 not specified;not provided 2015-06-24 -0.48 3.0 Uncertain significance 0 -192006 Simple 201229221 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-06-19 -0.51 2.0 Uncertain significance 0 -192008 Simple 200355367 C . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-08 -2.55 1.4444444444444444 Uncertain significance 0 -192019 Simple 140143513 A . Uncertain significance 2 2 not specified;not provided 2014-09-12 -0.44999999999999996 3.5 Uncertain significance 0 -192021 Simple 199796249 A . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-23 -2.61 1.1111111111111112 Uncertain significance 0 -192025 Simple 201672969 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-05-14 -0.51 2.5 Uncertain significance 0 -192026 Simple 576904726 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-01-24 -0.51 2.5 Uncertain significance 0 -192027 Simple 200520316 C . Uncertain significance 2 2 not specified;not provided 2014-11-04 -0.44999999999999996 3.5 Uncertain significance 0 -192032 Simple 200792058 T . Uncertain significance 2 3 not specified;not provided;Cardiovascular phenotype 2015-09-22 -0.69 3.3333333333333335 Uncertain significance 0 -192033 Simple 780405420 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-03-21 -0.51 2.0 Uncertain significance 0 -192036 Simple 200348414 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-17 -0.78 2.0 Uncertain significance 0 -192039 Simple 199844346 C . Uncertain significance 2 2 not provided;Cardiovascular phenotype 2015-08-06 -0.48 3.0 Uncertain significance 0 -192041 Simple 201273719 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2015-12-03 -0.48 3.0 Uncertain significance 0 -192045 Simple 201308378 C . Uncertain significance 2 2 not specified;not provided 2015-10-12 -0.48 3.0 Uncertain significance 0 -192046 Simple 201137248 A . Uncertain significance 2 2 not specified;not provided 2014-09-08 -0.44999999999999996 3.5 Uncertain significance 0 -192053 Simple 200760091 G . Uncertain significance 2 2 not specified;not provided 2015-06-16 -0.48 3.0 Uncertain significance 0 -192057 Simple 200935937 A . Uncertain significance 2 2 not specified;not provided 2015-12-04 -0.48 3.0 Uncertain significance 0 -192062 Simple 377401997 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-03-28 -0.51 2.0 Uncertain significance 0 -192063 Simple 200052398 C . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-09-07 -1.1099999999999999 1.25 Uncertain significance 0 -192064 Simple 146199720 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-20 -0.78 2.0 Uncertain significance 0 -192066 Simple 200413367 T . Uncertain significance 2 2 not specified;not provided 2014-06-05 -0.44999999999999996 3.5 Uncertain significance 0 -192071 Simple 200131545 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-03-07 -0.51 2.0 Uncertain significance 0 -192075 Simple 372979075 A . Uncertain significance 2 2 not specified;not provided 2014-04-02 -0.44999999999999996 3.5 Uncertain significance 0 -192076 Simple 202032875 C . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-30 -2.31 1.25 Uncertain significance 0 -192078 Simple 572691153 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-05-12 -0.51 2.5 Uncertain significance 0 -192080 Simple 141105443 A . Uncertain significance 2 2 not specified;not provided 2014-03-20 -0.44999999999999996 3.5 Uncertain significance 0 -192082 Simple 200563229 T . Uncertain significance 2 2 not specified;not provided 2013-06-24 -0.39 4.5 Uncertain significance 0 -192083 Simple 201904897 C . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-01 -1.3499999999999999 1.8 Uncertain significance 0 -192085 Simple 146241078 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-01-31 -0.51 2.5 Uncertain significance 0 -192086 Simple 370978752 C . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-20 -2.52 1.5555555555555556 Uncertain significance 0 -192087 Simple 201988645 A . Uncertain significance 2 2 not specified;not provided 2014-11-12 -0.44999999999999996 3.5 Uncertain significance 0 -192088 Simple 200749662 A . Uncertain significance 2 2 not specified;not provided 2017-07-21 -0.51 2.0 Uncertain significance 0 -192090 Simple 55914517 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-20 -0.72 2.6666666666666665 Uncertain significance 0 -192091 Simple 200902055 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-12-05 -0.51 2.5 Uncertain significance 0 -192094 Simple 199507913 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-02-21 -0.51 2.5 Uncertain significance 0 -192095 Simple 200677631 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-04-12 -0.51 2.0 Uncertain significance 0 -192096 Simple 180694107 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-07 -0.75 2.3333333333333335 Uncertain significance 0 -192098 Simple 786205406 C . Uncertain significance 2 2 not provided;Cardiovascular phenotype 2015-09-30 -0.48 3.0 Uncertain significance 0 -192099 Simple 200165636 C . Uncertain significance 2 6 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;not specified;not provided 2017-08-07 -1.6199999999999999 1.3333333333333333 Uncertain significance 0 -192117 Simple 186842903 G . Benign/Likely benign 2 6 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;not provided;Cardiomyopathy, ARVC 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 0 -192127 Simple 147659164 A . Benign/Likely benign 2 4 not specified;not provided;Dilated cardiomyopathy 1KK 2017-04-03 -13.8 1.5 Benign/Likely benign 0 -192130 Simple 140501902 T . Likely benign 2 2 not specified 2017-06-30 -5.1 2.0 Likely benign 0 -192131 Simple 142047577 A . Likely benign 2 3 Loeys-Dietz syndrome 4;not provided;Cardiovascular phenotype 2017-05-27 -8.1 1.6666666666666667 Likely benign 0 -192139 Simple 199761901 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-04-21 -5.1 2.0 Likely benign 0 -192148 Simple 201918596 C . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-27 -7.800000000000001 2.0 Likely benign 0 -192152 Simple 150682764 C . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-12 -13.2 2.25 Benign/Likely benign 0 -192171 Simple 370765948 A . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-08-04 -8.1 2.0 Likely benign 1 -192172 Simple 200815663 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-03-27 -8.1 2.5 Likely benign 1 -192176 Simple 77419653 T . Benign/Likely benign 2 3 not specified;not provided 2015-04-28 -12.3 3.0 Benign/Likely benign 0 -192177 Simple 139172299 G . Benign/Likely benign 2 2 not specified;not provided 2015-03-11 -7.5 3.0 Likely benign 1 -192182 Simple 10404156 T . Benign 2 3 Familial hypertrophic cardiomyopathy 19;not specified;not provided 2017-05-18 -16.2 1.6666666666666667 Benign/Likely benign 1 -192183 Simple 12459238 T . Benign 2 2 Familial hypertrophic cardiomyopathy 19;not specified 2017-08-07 -10.2 2.0 Benign/Likely benign 1 -192192 Simple 150404143 A . Benign 2 4 not specified;Dilated cardiomyopathy 1KK 2017-04-28 -20.4 2.25 Benign/Likely benign 1 -192213 Simple 200021871 A . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -10.2 2.0 Benign/Likely benign 1 -192214 Simple 72650053 A . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-02 -10.2 2.0 Benign/Likely benign 1 -192216 Simple 200513156 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-01-25 -6.9 3.0 Likely benign 1 -192217 Simple 73973133 A . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-08 -10.2 2.0 Benign/Likely benign 1 -192219 Simple 80359050 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-03-24 -0.51 2.5 Uncertain significance 0 -192220 Simple 587779008 A . Uncertain significance 2 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2016-08-19 -0.54 2.0 Uncertain significance 0 -192225 Simple 786205863 GT . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-11-30 -0.54 2.0 Uncertain significance 0 -192227 Simple 121913321 - . Pathogenic 2 2 Peutz-Jeghers syndrome 2016-06-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -192314 Simple 1875184 C . Benign/Likely benign 2 5 Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-06-14 -19.2 2.6 Benign/Likely benign 0 -193036 Simple 201168448 A . Benign/Likely benign 2 3 Mucopolysaccharidosis type VI;not specified;not provided 2016-06-16 -10.8 1.6666666666666667 Benign/Likely benign 0 -193037 Simple 794726871 T . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2016-05-12 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -193041 Simple 533485167 G . Benign/Likely benign 2 3 Beckwith-Wiedemann syndrome;not specified 2016-06-13 -10.8 1.6666666666666667 Benign/Likely benign 0 -193042 Simple 565544512 - . Benign 2 3 Beckwith-Wiedemann syndrome;not specified 2017-08-21 -16.8 1.3333333333333333 Benign/Likely benign 1 -193045 Simple 569851503 G . Uncertain significance 2 2 not specified 2017-02-22 -0.54 2.0 Uncertain significance 0 -193050 Simple 145006100 A . Benign 2 2 not specified 2017-03-25 -10.8 1.5 Benign/Likely benign 1 -193051 Simple 2070954 G . Benign/Likely benign 2 3 Fucosidosis;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -193052 Simple 2070955 A . Benign 2 2 Fucosidosis;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -193053 Simple 2070956 C . Benign 2 3 Fucosidosis;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -193054 Simple 11623 T . Pathogenic 2 2 Galactosylceramide beta-galactosidase deficiency;not provided 2017-06-06 10.8 1.5 Pathogenic/Likely pathogenic 1 -193063 Simple 7508518 C . Benign 2 6 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-06-14 -34.8 1.3333333333333333 Benign 0 -193066 Simple 2234926 T . Benign/Likely benign 2 3 Primary open angle glaucoma;not specified;Glaucoma 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -193070 Simple 794726881 - . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-08-15 -5.4 2.0 Likely benign 0 -193074 Simple 199974771 G . Benign/Likely benign 2 3 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -193076 Simple 150358700 G . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -193078 Simple 111656877 A . Benign/Likely benign 2 3 Glycogen storage disease type X;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -193079 Simple 796065320 AGGAGG . Benign/Likely benign 2 3 Polycystic kidney disease, autosomal dominant;not specified 2017-08-08 -14.4 1.0 Benign/Likely benign 0 -193082 Simple 572454921 - . Benign/Likely benign 2 3 Retinoblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -13.8 1.3333333333333333 Benign/Likely benign 0 -193085 Simple 143166696 A . Uncertain significance 2 2 not specified 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -193086 Simple 148196509 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.54 2.0 Uncertain significance 0 -193091 Simple 77852524 G . Benign 2 6 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-08-11 -34.8 1.1666666666666667 Benign 0 -193094 Simple 140678848 T . Benign/Likely benign 2 3 not specified;Spastic paraplegia 2017-07-31 -11.1 1.6666666666666667 Benign/Likely benign 0 -193102 Simple 144425830 A . Likely benign 2 2 Familial hypoplastic, glomerulocystic kidney;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -193106 Simple 713040 G . Benign 2 4 Fetal hemoglobin quantitative trait locus 1;Hb SS disease;beta Thalassemia;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -193112 Simple 79765751 T . Likely benign 2 3 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Dominant/Recessive 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -193113 Simple 550365194 - . Benign 2 3 not specified 2016-09-16 -16.8 1.6666666666666667 Benign/Likely benign 1 -193123 Simple 142531974 T . Uncertain significance 2 3 Lethal multiple pterygium syndrome;not specified 2017-05-11 -0.84 1.3333333333333333 Uncertain significance 0 -193127 Simple 142330429 A . Benign/Likely benign 2 2 Keutel syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -193128 Simple 762313827 C . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193129 Simple 1007211 A . Benign/Likely benign 2 3 Hereditary insensitivity to pain with anhidrosis;not specified 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -193131 Simple 57285449 G . Benign 2 1 not specified 2015-03-25 . 2.0 . 0 -193133 Simple 72861052 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -193134 Simple 201355503 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -193136 Simple 201965800 G . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -193145 Simple 10200693 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -193155 Simple 373977008 T . Uncertain significance 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-09-13 -0.8999999999999999 1.0 Uncertain significance 0 -193166 Simple 58655370 A . Benign 2 2 Symmetrical dyschromatosis of extremities;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -193170 Simple 74032864 A . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-26 -14.4 1.3333333333333333 Benign/Likely benign 0 -193172 Simple 77951481 T . Uncertain significance 2 4 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified;not provided 2017-04-05 -1.14 1.25 Uncertain significance 0 -193173 Simple 9924504 C . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -17.4 1.3333333333333333 Benign/Likely benign 1 -193177 Simple 11648572 C . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -16.8 1.6666666666666667 Benign/Likely benign 1 -193178 Simple 11640794 C . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -16.8 1.6666666666666667 Benign/Likely benign 1 -193188 Simple 7107543 T . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -193189 Simple 569734777 C . Uncertain significance 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -193194 Simple 779017688 C . Uncertain significance 2 2 not specified 2016-08-08 -0.54 2.0 Uncertain significance 0 -193197 Simple 764980282 C . Uncertain significance 2 2 Early infantile epileptic encephalopathy 9;not specified 2017-01-18 -0.54 2.0 Uncertain significance 0 -193203 Simple 3751884 G . Benign 2 2 not specified;Osteopetrosis 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -193213 Simple 76840944 GCGGCG . Benign 2 1 not specified 2014-06-09 . 3.0 . 0 -193215 Simple 77586767 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease type 2F;not specified 2017-07-29 -8.4 1.5 Benign/Likely benign 0 -193216 Simple 9515185 G . Benign 2 6 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -36.0 0.8333333333333334 Benign 0 -193217 Simple 74506933 A . Benign/Likely benign 2 2 not specified 2016-12-27 -7.8 2.0 Likely benign 1 -193218 Simple 2294984 A . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -193219 Simple 375719734 A . Uncertain significance 2 3 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2016-09-04 -0.87 1.3333333333333333 Uncertain significance 0 -193221 Simple 200441930 A . Uncertain significance 2 2 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 -0.54 2.0 Uncertain significance 0 -193222 Simple 794726901 A . Uncertain significance 2 2 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified 2016-12-21 -0.5700000000000001 1.5 Uncertain significance 0 -193231 Simple 564221347 CTGCTG . Benign 2 2 not specified 2015-03-06 -10.2 2.5 Benign/Likely benign 1 -193236 Simple 77316189 A . Benign/Likely benign 2 3 Glycogen storage disease, type VI;not specified 2017-07-07 -14.4 1.0 Benign/Likely benign 0 -193237 Simple 150483902 A . Benign 2 1 not specified 2015-04-06 . 2.0 . 0 -193239 Simple 2376635 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -193250 Simple 202088921 T . Pathogenic/Likely pathogenic 2 7 Renal carnitine transport defect;not specified;not provided 2017-11-07 34.8 0.42857142857142855 Pathogenic 1 -193255 Simple 142756983 A . Uncertain significance 2 2 not specified;Osteopetrosis 2016-06-14 -0.6 1.0 Uncertain significance 0 -193257 Simple 2296533 C . Benign 2 2 not specified;Osteopetrosis 2016-09-06 -12.0 1.0 Benign/Likely benign 1 -193258 Simple 146553439 A . Benign/Likely benign 2 3 not specified;Osteopetrosis;Paget disease of bone 2016-06-30 -12.0 1.0 Benign/Likely benign 0 -193259 Simple 1805033 C . Benign/Likely benign 2 4 not specified;Osteopetrosis;Paget disease of bone 2016-08-22 -18.0 1.0 Benign/Likely benign 0 -193260 Simple 35589394 G . Benign/Likely benign 2 3 not specified;Osteopetrosis;Paget disease of bone 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -193261 Simple 559756386 A . Benign/Likely benign 2 3 Amish infantile epilepsy syndrome;not specified 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -193270 Simple 794726911 - . Benign/Likely benign 2 2 not specified 2017-07-13 -8.7 1.0 Benign/Likely benign 0 -193275 Simple 183199 C . Benign 2 2 Progressive myoclonic epilepsy;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -193277 Simple 794726916 - . Likely benign 2 1 not specified 2015-01-22 . 3.0 . 0 -193279 Simple 558732328 G . Benign/Likely benign 2 2 not specified 2015-06-05 -7.800000000000001 2.5 Likely benign 1 -193286 Simple 201240353 G . Benign 2 2 not specified 2016-04-25 -10.8 2.0 Benign/Likely benign 1 -193288 Simple 200224304 T . Likely benign 2 2 not specified 2017-06-01 -6.0 0.5 Likely benign 0 -193292 Simple 17855830 G . Benign 2 1 not specified 2016-03-18 . 1.0 . 0 -193293 Simple 72554624 G . Benign/Likely benign 2 4 not specified;Spastic paraplegia;Congenital Bile Acid Synthesis Defect;Spastic Paraplegia, Recessive 2017-04-17 -16.8 1.25 Benign/Likely benign 0 -193295 Simple 72416210 - . Benign 2 3 Wolcott-Rallison dysplasia;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -193306 Simple 760663911 C . Uncertain significance 2 2 not specified 2017-03-07 -0.5700000000000001 1.0 Uncertain significance 0 -193309 Simple 774917687 T . Likely benign 2 2 not specified 2016-02-22 -5.4 2.0 Likely benign 0 -193311 Simple 116680477 A . Benign/Likely benign 2 2 Holoprosencephaly 2;not specified 2016-09-20 -11.4 1.5 Benign/Likely benign 0 -193320 Simple 112180170 T . Benign/Likely benign 2 2 not specified;not provided 2016-07-13 -8.4 2.0 Benign/Likely benign 0 -193322 Simple 73637709 T . Benign 2 2 not specified;not provided 2015-09-29 -10.2 2.5 Benign/Likely benign 1 -193326 Simple 374826256 G . Uncertain significance 2 2 not specified 2017-05-16 -0.54 1.5 Uncertain significance 0 -193330 Simple 189108830 C . Benign/Likely benign 2 5 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -16.8 1.4 Benign/Likely benign 0 -193339 Simple 11558338 A . Benign 2 3 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -193346 Simple 201853949 T . Likely benign 2 2 not specified 2015-01-09 -4.5 3.5 Likely benign 0 -193357 Simple 34082359 T . Benign 2 1 not specified 2014-10-17 . 3.0 . 0 -193358 Simple 61735304 A . Benign/Likely benign 2 3 not specified;Familial exudative vitreoretinopathy 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -193359 Simple 139531639 T . Uncertain significance 2 2 not specified;Familial partial lipodystrophy 2016-06-14 -0.54 2.0 Uncertain significance 0 -193361 Simple 146547678 T . Uncertain significance 2 2 not specified;not provided 2017-01-31 -0.5700000000000001 1.5 Uncertain significance 0 -193368 Simple 141735624 C . Benign/Likely benign 2 2 not specified;Osteopetrosis 2016-06-14 -7.8 2.0 Likely benign 1 -193371 Simple 541276426 G . Uncertain significance 2 3 Citrin deficiency;not specified 2017-07-14 -0.84 1.3333333333333333 Uncertain significance 0 -193372 Simple 2274116 T . Benign/Likely benign 2 2 not specified;Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -193377 Simple 70965731 - . Benign/Likely benign 2 5 Alstrom syndrome;not specified;not provided 2017-03-30 -19.8 1.4 Benign/Likely benign 0 -193378 Simple 61156725 - . Benign/Likely benign 2 6 Alstrom syndrome;not specified 2016-06-14 -27.3 2.0 Benign 1 -193381 Simple 191256186 C . Benign 2 2 not specified;not provided 2017-01-05 -10.8 2.0 Benign/Likely benign 1 -193382 Simple 10180675 G . Benign 2 2 Three M syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -193386 Simple 794726939 T . Uncertain significance 2 2 Dominant hereditary optic atrophy;not specified 2015-01-06 -0.48 3.0 Uncertain significance 0 -193393 Simple 144077436 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-14 -8.7 1.0 Benign/Likely benign 0 -193394 Simple 1488996 T . Benign 2 2 not specified 2016-02-12 -10.2 2.5 Benign/Likely benign 1 -193395 Simple 1128141 G . Benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -193396 Simple 11542639 A . Benign/Likely benign 2 2 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 -7.8 2.0 Likely benign 1 -193398 Simple 111759069 A . Benign/Likely benign 2 3 not specified;not provided 2017-01-27 -11.7 1.3333333333333333 Benign/Likely benign 0 -193399 Simple 138628273 C . Benign/Likely benign 2 3 not specified;not provided 2016-11-11 -10.5 2.0 Benign/Likely benign 0 -193400 Simple 200926181 T . Benign/Likely benign 2 2 not specified;not provided 2017-03-07 -8.4 1.0 Benign/Likely benign 0 -193401 Simple 2233061 A . Uncertain significance 2 2 not specified 2016-05-17 -0.54 2.0 Uncertain significance 0 -193404 Simple 794726941 . . Uncertain significance 2 2 not specified;not provided 2017-03-07 -0.54 1.5 Uncertain significance 0 -193424 Simple 545205153 C . Uncertain significance 2 2 Cone-rod dystrophy amelogenesis imperfecta;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193426 Simple 150401144 T . Benign 2 2 not specified;not provided 2015-10-28 -10.2 2.5 Benign/Likely benign 1 -193433 Simple 7923716 G . Benign 2 3 not specified 2016-06-03 -17.4 1.3333333333333333 Benign/Likely benign 1 -193434 Simple 77152496 A . Benign 2 1 not specified 2015-11-23 . 2.0 . 0 -193435 Simple 67765306 GG . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 2.0 Benign/Likely benign 0 -193436 Simple 3812882 A . Benign 2 4 Congenital disorder of glycosylation;not specified 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -193437 Simple 3812883 A . Benign 2 4 Congenital disorder of glycosylation;not specified 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -193440 Simple 139034501 A . Benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-31 -16.2 1.6666666666666667 Benign/Likely benign 1 -193441 Simple 769413686 - . Benign/Likely benign 2 3 not specified;not provided;Early infantile epileptic encephalopathy 2017-08-02 -10.8 1.0 Benign/Likely benign 0 -193442 Simple 544994462 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-07-31 -15.0 0.3333333333333333 Benign/Likely benign 0 -193447 Simple 61761937 C . Benign/Likely benign 2 2 not specified;Split-Hand/Foot Malformation 2016-06-14 -7.8 2.0 Likely benign 1 -193448 Simple 111600818 G . Benign/Likely benign 2 2 not specified;Split-Hand/Foot Malformation 2016-06-14 -7.8 2.0 Likely benign 1 -193449 Simple 61382490 T . Benign/Likely benign 2 2 not specified;Split-Hand/Foot Malformation 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -193450 Simple 3806471 G . Benign 2 3 Sitosterolemia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -193454 Simple 1799925 A . Benign 2 7 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WILMS TUMOR 2017-04-14 -40.8 1.1428571428571428 Benign 0 -193457 Simple 55848325 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2016-03-18 -11.4 1.5 Benign/Likely benign 0 -193463 Simple 797044623 TT . Pathogenic 2 4 Cerebral cavernous malformations 2;not provided 2017-07-10 23.4 0.75 Pathogenic 0 -193464 Simple 368604803 C . Benign/Likely benign 2 2 not specified 2016-04-27 -8.7 1.5 Benign/Likely benign 0 -193465 Simple 758153602 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -193469 Simple 531278468 - . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -193471 Simple 200055760 T . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193472 Simple 56368716 T . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -193473 Simple 61744789 C . Benign/Likely benign 2 4 Congenital disorder of glycosylation type 1I;Congenital disorder of glycosylation;not specified;Myasthenic syndrome, congenital, 14 2017-06-28 -19.8 1.25 Benign/Likely benign 0 -193478 Simple 190796582 T . Benign/Likely benign 2 2 not specified 2016-09-29 -8.4 2.0 Benign/Likely benign 0 -193480 Simple 41297065 A . Uncertain significance 2 2 Congenital defect of folate absorption;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -193481 Simple 41297069 A . Uncertain significance 2 2 Congenital defect of folate absorption;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -193482 Simple 147551003 T . Uncertain significance 2 4 not specified;not provided 2017-07-13 -1.1400000000000001 1.25 Uncertain significance 0 -193486 Simple 141378856 A . Likely benign 2 1 not specified 2015-02-24 . 3.0 . 0 -193493 Simple 369793136 C . Uncertain significance 2 2 not specified 2015-10-08 -0.51 2.5 Uncertain significance 0 -193495 Simple 531550505 - . Benign/Likely benign 2 3 Spastic paraplegia 6;not specified;Spastic Paraplegia, Dominant 2017-08-10 -14.4 1.0 Benign/Likely benign 0 -193506 Simple 71647828 A . Benign 2 2 Pigmentary pallidal degeneration;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -193508 Simple 756852655 C . Uncertain significance 2 3 not specified 2017-05-24 -0.84 1.3333333333333333 Uncertain significance 0 -193509 Simple 191800156 G . Benign/Likely benign 2 3 not specified 2017-03-24 -15.0 0.6666666666666666 Benign/Likely benign 0 -193518 Simple 146636139 C . Uncertain significance 2 4 Lafora disease;not specified 2016-11-17 -1.2 1.0 Uncertain significance 0 -193524 Simple 146685625 G . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193525 Simple 2496425 C . Benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -193528 Simple 140101984 A . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193529 Simple 150154438 T . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193530 Simple 139804851 T . Uncertain significance 2 3 Cryptophthalmos syndrome;not specified 2017-07-20 -0.84 1.3333333333333333 Uncertain significance 0 -193532 Simple 41292753 T . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193534 Simple 1868463 A . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -193535 Simple 12874397 T . Benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -193536 Simple 2496423 C . Benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -193537 Simple 41292755 T . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -193538 Simple 8002488 A . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -193540 Simple 2229533 A . Benign/Likely benign 2 3 Deficiency of butyryl-CoA dehydrogenase;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -193541 Simple 150140386 G . Benign/Likely benign 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2017-08-23 -13.8 1.0 Benign/Likely benign 0 -193544 Simple 771266745 - . Pathogenic/Likely pathogenic 2 3 Severe combined immunodeficiency due to ADA deficiency;not provided 2016-11-21 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -193545 Simple 75953451 G . Uncertain significance 2 3 not specified;not provided 2016-08-30 -0.75 2.6666666666666665 Uncertain significance 0 -193550 Simple 78432485 C . Benign/Likely benign 2 3 Citrullinemia type I;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -193559 Simple 111033813 - . Pathogenic/Likely pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2015-12-29 8.100000000000001 2.0 Likely pathogenic 1 -193562 Simple 2229460 G . Benign 2 2 Glutaric aciduria, type 1;not specified 2017-07-14 -10.8 1.5 Benign/Likely benign 1 -193564 Simple 200017313 C . Pathogenic/Likely pathogenic 2 4 Mitochondrial trifunctional protein deficiency;Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided 2017-02-09 18.3 2.25 Pathogenic 1 -193565 Simple 6413501 T . Likely benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -193569 Simple 371112962 C . Uncertain significance 2 4 Joubert syndrome;Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -1.14 1.5 Uncertain significance 0 -193571 Simple 201864147 G . Uncertain significance 2 2 Ornithine aminotransferase deficiency;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -193573 Simple 1800405 A . Benign/Likely benign 2 2 not specified;Oculocutaneous albinism 2016-06-14 -7.8 2.0 Likely benign 1 -193579 Simple 564661476 CC . Benign 2 5 not specified;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -28.8 1.4 Benign 0 -193583 Simple 146798796 A . Uncertain significance 2 4 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-10-11 -1.14 1.0 Uncertain significance 0 -193592 Simple 4727853 A . Benign/Likely benign 2 4 Cystic fibrosis;not specified;not provided 2016-10-21 -19.8 1.5 Benign/Likely benign 0 -193600 Simple 794726982 . . Uncertain significance 2 2 not specified 2016-03-28 -0.54 2.0 Uncertain significance 0 -193603 Simple 2229194 T . Benign 2 3 Lethal multiple pterygium syndrome;not specified;not provided 2017-01-25 -16.2 2.0 Benign/Likely benign 1 -193615 Simple 769104531 A . Uncertain significance 2 2 not specified 2017-04-03 -0.54 1.5 Uncertain significance 0 -193616 Simple 137858807 A . Uncertain significance 2 4 Neuronal ceroid lipofuscinosis;not specified;not provided 2017-09-28 -1.1099999999999999 1.25 Uncertain significance 0 -193621 Simple 530674644 A . Uncertain significance 2 3 Pitt-Hopkins-like syndrome 2;not specified 2017-06-21 -0.84 1.3333333333333333 Uncertain significance 0 -193626 Simple 61734581 T . Benign 2 2 Supravalvar aortic stenosis;not specified 2016-02-24 -10.8 2.0 Benign/Likely benign 1 -193627 Simple 41286695 T . Benign/Likely benign 2 2 not specified;Osteopetrosis 2016-06-14 -7.8 2.0 Likely benign 1 -193629 Simple 112911055 A . Likely benign 2 1 not specified 2014-10-30 . 3.0 . 0 -193630 Simple 138220431 T . Uncertain significance 2 3 not specified;not provided 2017-02-23 -0.87 1.3333333333333333 Uncertain significance 0 -193632 Simple 34932223 A . Benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-28 -11.4 1.0 Benign/Likely benign 1 -193636 Simple 566272048 AA . Uncertain significance 2 2 Maple syrup urine disease;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193637 Simple 794726987 A . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-12-08 -0.54 2.0 Uncertain significance 0 -193638 Simple 773251917 - . Benign/Likely benign 2 3 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified 2017-07-28 -11.4 0.6666666666666666 Benign/Likely benign 0 -193639 Simple 2306862 T . Benign, Affects 2 1 Bone mineral density quantitative trait locus 1;not specified 2014-10-01 . 3.0 . 0 -193647 Simple 200391162 A . Uncertain significance 2 2 not specified 2017-10-20 -0.54 1.5 Uncertain significance 0 -193652 Simple 200022583 T . Uncertain significance 2 2 Hypoparathyroidism retardation dysmorphism syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193662 Simple 7563233 C . Benign 2 3 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -193666 Simple 149698 A . Benign 2 5 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;Iron Overload;Retinitis Pigmentosa, Recessive 2016-06-14 -28.8 1.4 Benign 0 -193667 Simple 111326315 A . Benign/Likely benign 2 5 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;Iron Overload;Retinitis Pigmentosa, Recessive 2016-06-14 -16.8 1.4 Benign/Likely benign 0 -193668 Simple 375562152 T . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2017-06-27 -0.54 1.5 Uncertain significance 0 -193669 Simple 35876881 A . Benign/Likely benign 2 2 Baller-Gerold syndrome;not specified 2017-07-28 -8.7 1.0 Benign/Likely benign 0 -193673 Simple 371116651 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -193675 Simple 61732077 C . Benign/Likely benign 2 3 not specified 2017-01-25 -13.5 2.0 Benign/Likely benign 0 -193677 Simple 114494558 A . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-03-28 -16.5 1.5 Benign/Likely benign 0 -193681 Simple 142054672 A . Uncertain significance 2 2 not specified 2017-05-22 -0.54 1.5 Uncertain significance 0 -193682 Simple 71581787 A . Benign/Likely benign 2 3 Glycogen storage disease, type V;not specified 2017-06-19 -15.0 0.6666666666666666 Benign/Likely benign 0 -193684 Simple 760851100 A . Uncertain significance 2 2 not specified 2016-03-09 -0.54 2.0 Uncertain significance 0 -193690 Simple 794726996 G . Uncertain significance 2 2 not specified;not provided 2016-09-30 -0.54 2.0 Uncertain significance 0 -193691 Simple 115098969 A . Likely benign 2 2 not specified;not provided 2016-12-30 -5.7 1.5 Likely benign 0 -193692 Simple 151257815 T . Benign/Likely benign 2 2 Hemophagocytic lymphohistiocytosis, familial, 5;not specified 2017-08-11 -11.4 1.0 Benign/Likely benign 0 -193694 Simple 144853230 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-30 -0.54 1.5 Uncertain significance 0 -193695 Simple 794726997 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;not specified 2017-06-29 -3.54 1.5 Uncertain significance 2 -193696 Simple 794726998 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;not specified 2017-06-29 -3.54 1.5 Uncertain significance 2 -193703 Simple 76475298 A . Uncertain significance 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-06-30 -0.84 1.0 Uncertain significance 0 -193706 Simple 146451611 G . Uncertain significance 2 4 Spastic ataxia Charlevoix-Saguenay type;not specified 2017-06-02 -1.1099999999999999 1.25 Uncertain significance 0 -193710 Simple 772742353 A . Uncertain significance 2 2 not specified 2016-10-13 -0.54 2.0 Uncertain significance 0 -193711 Simple 11839380 C . Benign 2 3 not specified;not provided;Spastic paraplegia 2017-02-15 -16.2 2.0 Benign/Likely benign 1 -193715 Simple 141475476 T . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2017-05-12 -22.2 1.4 Benign/Likely benign 0 -193716 Simple 3739921 A . Benign/Likely benign 2 4 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -193717 Simple 137982921 C . Uncertain significance 2 5 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-02-02 -1.47 1.2 Uncertain significance 0 -193724 Simple 141081456 G . Uncertain significance 2 3 not specified;not provided;Holoprosencephaly 2017-04-30 -0.84 1.3333333333333333 Uncertain significance 0 -193725 Simple 369429961 A . Uncertain significance 2 2 not specified 2017-05-31 -0.54 1.5 Uncertain significance 0 -193727 Simple 114359726 A . Uncertain significance 2 3 Mental retardation, autosomal dominant 1;not specified 2017-05-23 -0.78 2.0 Uncertain significance 0 -193729 Simple 145750007 A . Benign/Likely benign 2 2 not specified;not provided 2015-05-21 -7.5 2.5 Likely benign 1 -193733 Simple 144099135 A . Benign/Likely benign 2 4 Jeune thoracic dystrophy;not specified;not provided 2016-06-14 -19.2 1.75 Benign/Likely benign 0 -193735 Simple 138281924 A . Uncertain significance 2 3 not specified;Osteogenesis Imperfecta, Recessive 2016-06-30 -0.84 1.6666666666666667 Uncertain significance 0 -193751 Simple 115018449 T . Benign 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-05-22 -11.4 1.0 Benign/Likely benign 1 -193752 Simple 35912339 A . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-11-02 -17.4 0.75 Benign/Likely benign 0 -193759 Simple 199546324 A . Uncertain significance 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -0.54 2.0 Uncertain significance 0 -193763 Simple 13131655 C . Benign 2 3 not specified;Ellis-van Creveld Syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -193764 Simple 147295085 T . Uncertain significance 2 3 Ceroid lipofuscinosis neuronal 7;not specified 2017-04-08 -0.81 1.6666666666666667 Uncertain significance 0 -193769 Simple 794727011 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -193771 Simple 189611387 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-23 -11.7 1.0 Benign/Likely benign 0 -193778 Simple 577066020 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-07 -0.78 2.0 Uncertain significance 0 -193781 Simple 775513148 T . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -193782 Simple 779970363 - . Benign/Likely benign 2 2 not specified 2015-07-10 -7.800000000000001 2.5 Likely benign 1 -193789 Simple 794727014 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -193790 Simple 794727015 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.54 1.5 Uncertain significance 0 -193795 Simple 4647130 G . Benign/Likely benign 2 2 Cockayne syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -193798 Simple 141437721 G . Pathogenic 2 3 Glutaric aciduria, type 1;not provided 2016-12-15 17.4 1.3333333333333333 Pathogenic 0 -193799 Simple 372983141 C . Pathogenic 2 2 Glutaric aciduria, type 1;not provided 2017-01-26 10.8 2.0 Pathogenic/Likely pathogenic 1 -193802 Simple 140279503 A . Uncertain significance 2 2 Long QT syndrome;not specified 2016-08-24 -0.5700000000000001 1.5 Uncertain significance 0 -193806 Simple 142899308 A . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193815 Simple 554322769 A . Uncertain significance 2 3 Oguchi's disease;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -193818 Simple 3743262 T . Benign 2 2 not specified;Insulin-Like Growth Factor I Resistance 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -193819 Simple 72624961 T . Uncertain significance 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -193820 Simple 77053118 C . Uncertain significance 2 3 Lethal arthrogryposis with anterior horn cell disease;not specified;Lethal Congenital Contracture Syndrome 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -193823 Simple 4399578 C . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -193826 Simple 78470373 T . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -193835 Simple 117294281 A . Benign/Likely benign 2 4 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-07-10 -17.4 1.25 Benign/Likely benign 0 -193839 Simple 145670933 T . Uncertain significance 2 4 Familial hemiplegic migraine;Seizure Disorders;not specified 2016-12-08 -1.17 1.25 Uncertain significance 0 -193844 Simple 61756763 G . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -193845 Simple 143873938 T . Benign/Likely benign 2 5 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-04-18 -24.6 1.6 Benign 1 -193848 Simple 144403828 T . Uncertain significance 2 2 EEM syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193856 Simple 1035705 T . Benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -193862 Simple 141774400 T . Uncertain significance 2 3 not specified;Nemaline Myopathy, Recessive 2017-04-11 -0.87 1.0 Uncertain significance 0 -193865 Simple 112620957 - . Benign/Likely benign 2 3 not specified;Kabuki syndrome 2017-06-16 -13.8 1.3333333333333333 Benign/Likely benign 0 -193874 Simple 138661581 T . Uncertain significance 2 2 Achondrogenesis;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -193877 Simple 145447965 C . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2016-11-12 -0.54 2.0 Uncertain significance 0 -193879 Simple 202035863 C . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-04-04 -21.0 0.75 Benign/Likely benign 0 -193884 Simple 641936 G . Benign 2 2 Ataxia-telangiectasia-like disorder 1;not specified 2016-04-14 -10.8 2.0 Benign/Likely benign 1 -193899 Simple 749571139 A . Uncertain significance 2 2 Nephronophthisis;not specified 2016-02-07 -0.51 2.5 Uncertain significance 0 -193900 Simple 138155747 G . Benign/Likely benign 2 4 not specified;not provided 2016-11-10 -16.8 1.75 Benign/Likely benign 0 -193903 Simple 141880939 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia 2017-06-16 -11.7 1.0 Benign/Likely benign 0 -193912 Simple 200985982 T . Uncertain significance 2 2 not specified 2016-03-08 -0.5700000000000001 1.5 Uncertain significance 0 -193913 Simple 544349961 A . Pathogenic 2 2 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2017-05-18 10.8 1.5 Pathogenic/Likely pathogenic 1 -193915 Simple 142597675 A . Likely benign 2 2 not specified;not provided 2017-02-22 -5.4 2.0 Likely benign 0 -193919 Simple 376046736 A . Benign/Likely benign 2 2 not specified 2017-06-28 -8.4 1.0 Benign/Likely benign 0 -193924 Simple 148083271 - . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -193925 Simple 56177950 T . Benign/Likely benign 2 10 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;not provided;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-08-01 -40.8 1.1 Benign 1 -193928 Simple 374411782 T . Uncertain significance 2 3 Joubert syndrome;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -193931 Simple 17109261 C . Benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-06 -10.8 1.5 Benign/Likely benign 1 -193938 Simple 149466797 T . Uncertain significance 2 3 not specified;Monogenic diabetes 2016-11-15 -0.81 2.0 Uncertain significance 0 -193940 Simple 375440874 G . Uncertain significance 2 2 not specified 2015-01-16 -0.44999999999999996 3.5 Uncertain significance 0 -193948 Simple 116823950 G . Benign/Likely benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2017-05-02 -10.8 1.5 Benign/Likely benign 0 -193949 Simple 141867330 A . Uncertain significance 2 2 not specified 2015-10-03 -0.51 2.5 Uncertain significance 0 -193953 Simple 34820571 A . Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-26 -8.7 1.0 Benign/Likely benign 1 -193954 Simple 35700578 T . Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-26 -8.7 1.0 Benign/Likely benign 1 -193955 Simple 150172232 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2016-10-31 -13.8 1.6666666666666667 Benign/Likely benign 0 -193956 Simple 150644129 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-28 -10.8 1.3333333333333333 Benign/Likely benign 0 -193957 Simple 201472187 T . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -193964 Simple 61754061 T . Benign/Likely benign 2 2 Baller-Gerold syndrome;not specified 2017-08-04 -10.8 1.5 Benign/Likely benign 0 -193971 Simple 148589243 T . Uncertain significance 2 4 Homocystinuria due to CBS deficiency;not specified;not provided 2017-07-03 -1.14 1.0 Uncertain significance 0 -193976 Simple 199999619 C . Pathogenic 2 2 Glutaric aciduria, type 1;not provided 2016-07-22 10.8 2.0 Pathogenic/Likely pathogenic 1 -193982 Simple 55809701 CC . Benign 2 2 not specified 2015-04-21 -10.2 2.5 Benign/Likely benign 1 -193985 Simple 757119713 G . Uncertain significance 2 2 not specified 2017-02-20 -0.54 2.0 Uncertain significance 0 -193986 Simple 10852218 C . Benign 2 2 not specified;Oculocutaneous albinism 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -193992 Simple 200030296 T . Uncertain significance 2 2 not specified;Congenital Muscular Dystrophy, LAMA2-related 2016-06-14 -0.54 2.0 Uncertain significance 0 -193996 Simple 34605986 C . Benign/Likely benign 2 2 Hypophosphatasia;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -194003 Simple 142404899 A . Benign/Likely benign 2 1 not specified 2015-04-15 . 2.0 . 0 -194004 Simple 794727050 - . Uncertain significance 2 2 Werner syndrome;not specified 2017-07-27 -0.54 1.5 Uncertain significance 0 -194008 Simple 2229109 T . Benign 2 2 not specified 2015-10-04 -10.2 2.5 Benign/Likely benign 1 -194011 Simple 76931006 A . Benign/Likely benign 2 2 Frank Ter Haar syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -194012 Simple 189684298 G . Benign/Likely benign 2 2 Frank Ter Haar syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -194014 Simple 374690853 A . Uncertain significance 2 2 Doyne honeycomb retinal dystrophy;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -194021 Simple 190390987 C . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-03-15 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -194026 Simple 148727077 T . Likely benign 2 5 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-06-13 -14.4 1.2 Benign/Likely benign 1 -194035 Simple 200452908 A . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-11-07 -0.54 2.0 Uncertain significance 0 -194036 Simple 193026103 T . Likely benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -194038 Simple 12536635 A . Benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-05 -16.8 1.3333333333333333 Benign/Likely benign 1 -194051 Simple 145641295 T . Benign/Likely benign 2 2 not specified 2015-05-22 -8.100000000000001 2.0 Likely benign 1 -194058 Simple 200451158 C . Likely benign 2 2 not specified;not provided 2016-11-07 -5.7 1.5 Likely benign 0 -194059 Simple 41459945 A . Uncertain significance 2 2 not specified;Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders 2016-06-14 -0.54 2.0 Uncertain significance 0 -194061 Simple 201749114 A . Benign/Likely benign 2 4 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-06-01 -14.4 1.0 Benign/Likely benign 0 -194064 Simple 2099489 T . Benign/Likely benign 2 3 Multiple pterygium syndrome Escobar type;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -194065 Simple 114259687 A . Benign/Likely benign 2 2 not specified;Holoprosencephaly 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -194066 Simple 3027888 T . Benign/Likely benign 2 3 not specified 2016-03-24 -14.4 1.6666666666666667 Benign/Likely benign 0 -194071 Simple 2274976 T . Benign/Likely benign, other 2 4 Neural tube defects, folate-sensitive;not specified;not provided 2016-08-08 -21.0 1.0 Benign/Likely benign 0 -194072 Simple 200620291 T . Uncertain significance 2 2 not specified 2017-01-24 -0.54 2.0 Uncertain significance 0 -194074 Simple 113443891 T . Uncertain significance 2 3 not specified 2017-02-13 -0.87 1.3333333333333333 Uncertain significance 0 -194075 Simple 41276187 C . Benign/Likely benign 2 3 not specified;not provided 2016-04-27 -14.4 1.3333333333333333 Benign/Likely benign 0 -194081 Simple 777057839 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.57 0.75 Benign/Likely benign 1 -194086 Simple 151078549 T . Benign/Likely benign 2 4 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-07-06 -16.8 1.0 Benign/Likely benign 0 -194090 Simple 140218677 C . Uncertain significance 2 2 Three M syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -194091 Simple 12069578 A . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified 2017-06-03 -17.1 1.25 Benign/Likely benign 0 -194094 Simple 150586098 T . Uncertain significance 2 2 not specified 2016-12-21 -0.54 2.0 Uncertain significance 0 -194098 Simple 138834349 C . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -194100 Simple 77902523 C . Uncertain significance 2 3 Dyggve-Melchior-Clausen syndrome;not specified;Smith-McCort dysplasia 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -194106 Simple 140192398 A . Uncertain significance 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -194108 Simple 201485243 A . Uncertain significance 2 2 Familial infantile myasthenia;not specified 2016-10-08 -0.54 2.0 Uncertain significance 0 -194110 Simple 776194035 A . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 2016-06-14 -0.54 2.0 Uncertain significance 0 -194112 Simple 146032445 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-08 -11.4 1.3333333333333333 Benign/Likely benign 0 -194113 Simple 55689004 T . Benign/Likely benign 2 3 Parkinson disease 9;not specified;Spastic paraplegia 78, autosomal recessive 2017-08-07 -13.8 1.3333333333333333 Benign/Likely benign 0 -194115 Simple 747806672 T . Pathogenic 2 2 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;not provided 2015-05-28 10.2 2.5 Pathogenic/Likely pathogenic 1 -194116 Simple 183928380 C . Likely benign 2 3 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -8.4 1.6666666666666667 Benign/Likely benign 1 -194122 Simple 199861426 T . Uncertain significance 2 4 not specified;Primary Microcephaly, Recessive 2017-07-06 -1.14 1.25 Uncertain significance 0 -194129 Simple 794727076 T . Uncertain significance 2 2 not specified 2015-02-27 -0.48 3.0 Uncertain significance 0 -194130 Simple 794727077 - . Uncertain significance 2 3 not specified 2016-02-24 -0.78 2.3333333333333335 Uncertain significance 0 -194141 Simple 373946758 C . Uncertain significance 2 2 not specified 2015-11-08 -0.51 2.5 Uncertain significance 0 -194144 Simple 539800267 C . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -194151 Simple 34861155 A . Benign/Likely benign 2 2 Deficiency of ferroxidase;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -194152 Simple 114896216 A . Likely benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -11.7 1.25 Benign/Likely benign 1 -194158 Simple 113013085 T . Benign/Likely benign 2 4 Niemann-Pick disease type C1;not specified 2016-09-15 -19.8 1.5 Benign/Likely benign 0 -194159 Simple 7227375 A . Benign/Likely benign 2 2 Niemann-Pick disease, type C;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -194168 Simple 61759923 T . Likely benign 2 1 not specified 2014-07-30 . 3.0 . 0 -194170 Simple 200148275 T . Benign 2 2 not specified;Spastic paraplegia 2017-07-25 -10.8 1.5 Benign/Likely benign 1 -194171 Simple 113022759 G . Uncertain significance 2 2 not specified 2017-02-22 -0.54 2.0 Uncertain significance 0 -194178 Simple 78127134 T . Benign/Likely benign 2 2 Morquio syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -194185 Simple 56400113 T . Benign/Likely benign 2 2 not specified;Insulin-Like Growth Factor I Resistance 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -194186 Simple 11562030 C . Benign/Likely benign 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -194190 Simple 3741913 A . Benign 2 4 not specified;Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -194195 Simple 146170855 T . Uncertain significance 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.81 2.0 Uncertain significance 0 -194200 Simple 138401567 T . Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-05 -12.0 0.75 Benign/Likely benign 1 -194202 Simple 140927355 A . Likely benign 2 2 not specified 2016-01-21 -5.4 2.0 Likely benign 0 -194204 Simple 624147 A . Benign/Likely benign 2 4 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2016-11-26 -19.2 1.75 Benign/Likely benign 0 -194205 Simple 774213412 T . Uncertain significance 2 2 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified 2017-06-14 -0.54 1.5 Uncertain significance 0 -194206 Simple 150777198 G . Benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;not specified;Myasthenic syndrome, congenital, 17 2017-08-08 -11.4 1.0 Benign/Likely benign 1 -194207 Simple 755703742 - . Benign/Likely benign 2 9 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-06-05 -31.8 1.1111111111111112 Benign 1 -194212 Simple 35339834 A . Uncertain significance 2 3 not specified;Cerebellar hypoplasia 2016-06-14 -0.78 2.3333333333333335 Uncertain significance 0 -194214 Simple 2287622 G . Benign 2 3 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -194219 Simple 181761096 G . Likely benign 2 2 not specified 2017-06-01 -5.4 1.5 Likely benign 0 -194220 Simple 140479803 T . Benign/Likely benign 2 4 Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome;Holoprosencephaly 2016-12-02 -19.8 1.5 Benign/Likely benign 0 -194223 Simple 114823319 A . Benign/Likely benign 2 3 not specified;not provided;Holoprosencephaly 2016-09-13 -11.4 1.3333333333333333 Benign/Likely benign 0 -194224 Simple 141988240 T . Uncertain significance 2 2 not specified;Holoprosencephaly 2016-06-14 -0.54 2.0 Uncertain significance 0 -194227 Simple 373880077 T . Benign/Likely benign 2 2 not specified;Holoprosencephaly 2016-06-14 -7.8 2.0 Likely benign 1 -194228 Simple 146811565 T . Benign/Likely benign 2 4 Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome;Holoprosencephaly 2017-02-28 -19.8 1.5 Benign/Likely benign 0 -194229 Simple 146207623 T . Benign/Likely benign 2 3 not specified;not provided;Holoprosencephaly 2016-10-13 -13.8 1.6666666666666667 Benign/Likely benign 0 -194230 Simple 146467786 A . Benign/Likely benign 2 3 not specified;not provided;Holoprosencephaly 2016-10-13 -13.8 1.6666666666666667 Benign/Likely benign 0 -194231 Simple 149140724 G . Benign/Likely benign 2 3 Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome;Holoprosencephaly 2017-06-06 -13.8 1.3333333333333333 Benign/Likely benign 0 -194233 Simple 139570786 C . Uncertain significance 2 2 Glycogen storage disease, type V;not specified 2017-05-24 -0.54 1.5 Uncertain significance 0 -194236 Simple 34211419 T . Uncertain significance 2 2 not specified;Osteopetrosis 2016-06-14 -0.54 2.0 Uncertain significance 0 -194238 Simple 199975643 T . Uncertain significance 2 2 not specified 2016-09-26 -0.5700000000000001 1.5 Uncertain significance 0 -194241 Simple 117761837 T . Benign/Likely benign 2 3 Hemophagocytic lymphohistiocytosis, familial, 5;not specified 2017-08-21 -14.4 1.0 Benign/Likely benign 0 -194243 Simple 794727102 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -4.109999999999999 1.25 Uncertain significance 2 -194251 Simple 117083334 G . Benign 2 2 not specified;Nephronophthisis 15 2017-08-02 -11.4 1.0 Benign/Likely benign 1 -194255 Simple 150425546 A . Benign/Likely benign 2 3 Joubert syndrome;not specified 2017-08-07 -14.4 0.6666666666666666 Benign/Likely benign 0 -194256 Simple 140601319 A . Uncertain significance 2 4 Cohen syndrome;not specified 2017-05-23 -1.1099999999999999 1.5 Uncertain significance 0 -194258 Simple 9745522 A . Benign 2 2 not specified 2016-01-20 -10.8 2.0 Benign/Likely benign 1 -194261 Simple 2075164 A . Benign/Likely benign 2 3 not specified;Cone-Rod Dystrophy, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -194264 Simple 76889468 A . Benign/Likely benign 2 3 not specified;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -194273 Simple 11654175 T . Benign 2 2 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -194274 Simple 138370910 T . Benign/Likely benign 2 2 Retinal degeneration;not specified;Retinal degeneration 2016-06-14 -7.8 2.0 Likely benign 1 -194275 Simple 146366996 T . Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-11 -15.0 0.6 Benign/Likely benign 1 -194283 Simple 111293777 A . Benign/Likely benign 2 4 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-08-01 -14.4 1.25 Benign/Likely benign 0 -194289 Simple 143250090 G . Uncertain significance 2 2 not specified 2015-10-03 -0.51 2.5 Uncertain significance 0 -194291 Simple 3732309 T . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-06-12 -19.8 1.25 Benign/Likely benign 0 -194294 Simple 372990463 T . Uncertain significance 2 2 not specified 2017-05-12 -0.5700000000000001 1.0 Uncertain significance 0 -194295 Simple 370873040 A . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -194303 Simple 141716975 A . Benign/Likely benign 2 6 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-17 -22.8 0.8333333333333334 Benign/Likely benign 0 -194308 Simple 118191309 G . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-06-12 -19.8 1.25 Benign/Likely benign 0 -194317 Simple 794727113 T . Pathogenic/Likely pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency 2016-07-12 7.8 2.0 Likely pathogenic 1 -194318 Simple 138432416 T . Benign/Likely benign 2 3 Homocystinuria due to CBS deficiency;not specified 2017-05-16 -13.2 2.0 Benign/Likely benign 0 -194323 Simple 112372281 T . Benign 2 4 Cone-rod dystrophy 6;Leber congenital amaurosis 1;not specified 2017-04-28 -23.4 1.0 Benign/Likely benign 1 -194327 Simple 151204566 A . Benign/Likely benign 2 2 Nephronophthisis;not specified 2016-07-05 -8.4 1.5 Benign/Likely benign 0 -194329 Simple 115379510 C . Benign/Likely benign 2 4 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-04-26 -17.4 1.25 Benign/Likely benign 0 -194334 Simple 8187797 G . Benign 2 2 not specified 2016-03-01 -10.2 2.5 Benign/Likely benign 1 -194344 Simple 794727118 T . Uncertain significance 2 2 not specified 2016-10-20 -0.54 2.0 Uncertain significance 0 -194349 Simple 189533535 G . Uncertain significance 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -194356 Simple 753102653 A . Uncertain significance 2 3 Dilated cardiomyopathy 1DD;not specified 2017-03-28 -0.84 1.3333333333333333 Uncertain significance 0 -194357 Simple 201652272 C . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -194359 Simple 145101180 A . Benign/Likely benign 2 5 Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy 2017-02-10 -19.2 1.8 Benign/Likely benign 0 -194368 Simple 17612126 A . Benign 2 4 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2017-04-30 -22.8 1.25 Benign/Likely benign 1 -194369 Simple 141903179 T . Uncertain significance 2 2 not specified 2015-04-29 -0.54 2.0 Uncertain significance 0 -194370 Simple 139416105 G . Benign/Likely benign 2 2 not specified 2017-10-27 -8.4 1.0 Benign/Likely benign 0 -194372 Simple 137893207 A . Uncertain significance 2 4 not specified;Dilated cardiomyopathy 1JJ 2017-06-05 -1.1099999999999999 1.5 Uncertain significance 0 -194373 Simple 2303743 C . Benign/Likely benign 2 4 Stuve-Wiedemann syndrome;not specified;not provided 2017-01-05 -19.8 1.5 Benign/Likely benign 0 -194376 Simple 191490663 T . Uncertain significance 2 3 Progressive sclerosing poliodystrophy;not specified 2017-07-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -194378 Simple 2242244 C . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -194383 Simple 144848376 A . Benign/Likely benign 2 2 not specified 2017-03-28 -8.4 1.0 Benign/Likely benign 0 -194384 Simple 794727123 T . Pathogenic 2 3 Becker muscular dystrophy;Duchenne muscular dystrophy;not specified 2016-10-12 16.8 1.6666666666666667 Pathogenic 0 -194389 Simple 771427957 T . Pathogenic 2 2 Glycogen storage disease, type V;not provided 2016-11-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -194393 Simple 35089741 C . Benign 2 2 not specified;Osteopetrosis 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -194394 Simple 781949645 C . Uncertain significance 2 2 not specified 2014-07-03 -0.48 3.0 Uncertain significance 0 -194396 Simple 143450450 T . Benign 2 2 not specified 2016-10-15 -11.4 1.5 Benign/Likely benign 1 -194401 Simple 371691712 T . Uncertain significance 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-09-26 -1.14 1.25 Uncertain significance 0 -194403 Simple 146111714 A . Likely benign 2 2 not specified 2016-05-05 -5.4 2.0 Likely benign 0 -194408 Simple 374891838 A . Uncertain significance 2 2 Nephronophthisis;not specified 2017-03-02 -0.54 2.0 Uncertain significance 0 -194411 Simple 201903713 A . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-23 -0.8999999999999999 1.0 Uncertain significance 0 -194415 Simple 375708075 C . Uncertain significance 2 2 not specified 2017-01-20 -0.54 2.0 Uncertain significance 0 -194416 Simple 558018 C . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-08-04 -19.8 1.25 Benign/Likely benign 0 -194427 Simple 148698913 A . Benign 2 1 not specified 2015-03-26 . 2.0 . 0 -194431 Simple 77298332 A . Benign/Likely benign 2 3 Bardet-Biedl syndrome;not specified 2017-06-02 -13.8 1.3333333333333333 Benign/Likely benign 0 -194432 Simple 146320075 C . Uncertain significance 2 2 Jeune thoracic dystrophy;Nephronophthisis;not specified 2015-09-02 -0.54 2.0 Uncertain significance 0 -194440 Simple 12235714 T . Benign/Likely benign 2 2 Marles Greenberg Persaud syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -194441 Simple 144584049 A . Likely benign 2 1 not specified 2016-06-30 . 1.0 . 0 -194446 Simple 794727134 T . Uncertain significance 2 2 not specified 2016-01-25 -0.51 2.5 Uncertain significance 0 -194451 Simple 41291047 G . Uncertain significance 2 2 not specified 2016-07-06 -0.6 1.0 Uncertain significance 0 -194452 Simple 794727136 - . Pathogenic 2 2 Nemaline myopathy 2;Inborn genetic diseases 2014-07-01 9.0 3.5 Pathogenic/Likely pathogenic 1 -194458 Simple 146762316 A . Uncertain significance 2 3 Glycogen storage disease, type II;not specified 2017-08-17 -0.87 0.6666666666666666 Uncertain significance 0 -194461 Simple 34245321 G . Benign/Likely benign 2 5 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-07-28 -19.8 1.2 Benign/Likely benign 0 -194462 Simple 118149040 A . Benign/Likely benign 2 6 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-02-10 -23.4 1.3333333333333333 Benign/Likely benign 0 -194463 Simple 61758978 G . Benign/Likely benign 2 5 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-07-31 -20.4 1.0 Benign/Likely benign 0 -194472 Simple 763338640 T . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-02-15 -0.5700000000000001 1.5 Uncertain significance 0 -194476 Simple 754452975 A . Uncertain significance 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -194477 Simple 148514847 A . Uncertain significance 2 2 not specified 2017-05-18 -0.54 1.5 Uncertain significance 0 -194492 Simple 2303778 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -194498 Simple 149707354 C . Benign/Likely benign 2 11 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-08-11 -38.1 1.0 Benign 1 -194504 Simple 11568371 A . Benign/Likely benign 2 3 not specified;Familial Intrahepatic Cholestasis 2016-07-05 -13.8 1.6666666666666667 Benign/Likely benign 0 -194505 Simple 11568367 C . Benign/Likely benign 2 3 not specified;Familial Intrahepatic Cholestasis 2016-07-05 -13.8 1.6666666666666667 Benign/Likely benign 0 -194506 Simple 137974620 G . Uncertain significance 2 3 not specified 2016-12-15 -0.87 1.3333333333333333 Uncertain significance 0 -194519 Simple 190023981 T . Likely benign 2 3 not specified 2016-11-04 -8.1 2.0 Likely benign 0 -194525 Simple 141309384 T . Benign/Likely benign 2 4 Hemophagocytic lymphohistiocytosis, familial, 5;not specified 2017-07-31 -17.4 1.0 Benign/Likely benign 0 -194529 Simple 73464271 A . Uncertain significance 2 2 not specified 2016-12-19 -0.5700000000000001 1.5 Uncertain significance 0 -194530 Simple 138517537 T . Benign/Likely benign 2 6 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-04-11 -28.8 1.1666666666666667 Benign 1 -194546 Simple 190548814 A . Benign 2 2 CHARGE association;not specified 2017-06-30 -10.8 1.5 Benign/Likely benign 1 -194549 Simple 371500701 A . Uncertain significance 2 3 not specified;not provided 2017-05-31 -0.81 1.6666666666666667 Uncertain significance 0 -194553 Simple 370515061 A . Uncertain significance 2 3 not specified;Distal spinal muscular atrophy 2016-06-14 -0.81 2.0 Uncertain significance 0 -194555 Simple 794727152 A . Pathogenic/Likely pathogenic 2 5 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided 2017-05-18 25.5 1.4 Pathogenic 1 -194556 Simple 767575019 A . Uncertain significance 2 2 3-methylcrotonyl CoA carboxylase 2 deficiency;not specified 2017-04-03 -0.54 1.5 Uncertain significance 0 -194560 Simple 794727153 - . Pathogenic 2 2 Microphthalmia syndromic 9;not provided 2016-03-17 10.8 2.0 Pathogenic/Likely pathogenic 1 -194563 Simple 148446546 A . Benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-02-02 -10.8 2.0 Benign/Likely benign 1 -194565 Simple 150686744 A . Benign 2 2 Leukocyte adhesion deficiency, type III;not specified 2017-07-07 -11.4 1.0 Benign/Likely benign 1 -194567 Simple 797044652 GG . Pathogenic 2 2 Mental retardation with language impairment and with or without autistic features;not provided 2016-04-07 10.8 2.0 Pathogenic/Likely pathogenic 1 -194568 Simple 201615936 C . Uncertain significance 2 4 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-15 -1.14 1.25 Uncertain significance 0 -194578 Simple 3821324 A . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-06-12 -19.8 1.25 Benign/Likely benign 0 -194580 Simple 755562550 A . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-12-07 -2.34 1.25 Uncertain significance 0 -194585 Simple 121913332 T . Pathogenic/Likely pathogenic 2 4 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Colorectal Neoplasms 2016-12-02 22.2 1.75 Pathogenic 1 -194589 Simple 16861582 G . Benign 2 2 Deficiency of ferroxidase;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -194592 Simple 151225947 A . Benign/Likely benign 2 2 not specified;Oculocutaneous albinism 2016-06-14 -7.8 2.0 Likely benign 1 -194593 Simple 16957276 G . Benign/Likely benign 2 3 Propionic acidemia;not specified 2017-07-28 -10.8 1.3333333333333333 Benign/Likely benign 0 -194601 Simple 56017519 C . Uncertain significance 2 2 not specified;Hearing impairment 2015-03-27 -0.51 2.5 Uncertain significance 0 -194606 Simple 1046974 A . Benign 2 3 Oguchi's disease;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -194610 Simple 2229765 A . Benign 2 2 not specified;Insulin-Like Growth Factor I Resistance 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -194611 Simple 150628823 G . Uncertain significance 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -194614 Simple 146567534 A . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-08-25 -0.6 1.0 Uncertain significance 0 -194616 Simple 779306054 A . Uncertain significance 2 2 not specified 2017-10-19 -0.54 1.5 Uncertain significance 0 -194619 Simple 112238091 A . Likely benign 2 1 not specified 2014-10-30 . 3.0 . 0 -194624 Simple 139848756 C . Uncertain significance 2 2 Stuve-Wiedemann syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -194627 Simple 11356035 - . Benign 2 3 Glycogen storage disease, type VI;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -194630 Simple 148700620 A . Benign/Likely benign 2 3 not specified 2017-07-06 -11.4 1.3333333333333333 Benign/Likely benign 0 -194631 Simple 61742891 G . Benign 2 2 Joubert syndrome;Oral-facial-digital syndrome;not specified 2017-05-16 -10.8 1.5 Benign/Likely benign 1 -194644 Simple 114241603 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -194645 Simple 374391034 C . Benign/Likely benign 2 4 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-04-24 -17.4 1.0 Benign/Likely benign 0 -194657 Simple 61752334 C . Likely pathogenic 2 3 Three M syndrome 1;not provided;Inborn genetic diseases 2017-02-14 8.1 2.0 Likely pathogenic 0 -194663 Simple 147791304 C . Benign/Likely benign 2 2 Ciliary dyskinesia, primary, 6;not specified 2017-07-03 -7.8 1.5 Likely benign 1 -194665 Simple 377535841 C . Uncertain significance 2 2 CHARGE association;not specified 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -194672 Simple 794727176 T . Pathogenic 2 2 Beckwith-Wiedemann syndrome;Sotos syndrome 1 2017-07-25 10.8 1.5 Pathogenic/Likely pathogenic 1 -194676 Simple 111347025 C . Benign 2 4 Spastic paraplegia 11, autosomal recessive;not specified 2017-08-07 -22.8 1.25 Benign/Likely benign 1 -194680 Simple 7041710 C . Benign 2 2 Marles Greenberg Persaud syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -194684 Simple 59252892 T . Benign 2 3 Bardet-Biedl syndrome;not specified;not provided 2017-08-08 -17.4 1.0 Benign/Likely benign 1 -194685 Simple 150399299 G . Benign/Likely benign 2 2 not specified;not provided 2017-05-04 -7.8 1.5 Likely benign 1 -194691 Simple 762471207 - . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2015-04-28 14.4 3.0 Pathogenic/Likely pathogenic 1 -194692 Simple 9978104 T . Benign 2 4 Homocystinuria;not specified 2016-06-14 -18.6 3.25 Benign/Likely benign 1 -194696 Simple 2274097 A . Benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -194700 Simple 148450315 T . Benign 2 2 not specified 2016-07-11 -11.4 1.5 Benign/Likely benign 1 -194701 Simple 1799817 A . Benign 2 5 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2017-02-01 -29.4 1.2 Benign 0 -194707 Simple 147744763 T . Uncertain significance 2 2 not specified 2018-01-04 -0.5700000000000001 1.0 Uncertain significance 0 -194715 Simple 201439617 A . Uncertain significance 2 2 not specified 2016-05-18 -0.5700000000000001 1.5 Uncertain significance 0 -194720 Simple 16017 C . Benign/Likely benign 2 2 not specified 2016-08-10 -7.8 2.0 Likely benign 1 -194735 Simple 35110875 G . Benign/Likely benign 2 2 Glycogen storage disease, type VI;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -194737 Simple 200817435 A . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -194741 Simple 202008454 C . Benign 2 2 not specified 2016-09-26 -10.8 2.0 Benign/Likely benign 1 -194743 Simple 200629599 T . Likely benign 2 2 Baller-Gerold syndrome;not specified 2017-07-18 -5.7 1.0 Likely benign 0 -194744 Simple 794727188 T . Pathogenic 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 2016-06-28 16.8 1.6666666666666667 Pathogenic 0 -194746 Simple 145476116 T . Benign/Likely benign 2 2 not specified 2016-09-15 -7.8 2.0 Likely benign 1 -194748 Simple 113806080 A . Likely benign 2 2 not specified 2017-03-31 -5.4 1.5 Likely benign 0 -194765 Simple 191913664 A . Uncertain significance 2 2 not specified 2016-05-17 -0.54 2.0 Uncertain significance 0 -194767 Simple 139503476 T . Benign/Likely benign 2 3 not specified;not provided 2017-10-04 -10.8 1.3333333333333333 Benign/Likely benign 0 -194770 Simple 368535131 T . Uncertain significance 2 3 Bardet-Biedl syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -194773 Simple 148788159 A . Uncertain significance 2 2 not specified 2016-02-26 -0.54 2.0 Uncertain significance 0 -194774 Simple 587778819 CTGT . Pathogenic 2 2 Kartagener syndrome;Primary ciliary dyskinesia;Ciliary dyskinesia, primary, 15 2017-07-14 10.8 1.5 Pathogenic/Likely pathogenic 1 -194776 Simple 140564566 T . Uncertain significance 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -194779 Simple 150370681 T . Uncertain significance 2 2 Jeune thoracic dystrophy;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -194780 Simple 138161346 T . Benign/Likely benign 2 2 not specified 2015-10-20 -8.100000000000001 2.0 Likely benign 1 -194781 Simple 147306623 A . Uncertain significance 2 2 not specified 2017-02-10 -0.5700000000000001 1.5 Uncertain significance 0 -194782 Simple 10776844 G . Benign 2 1 not specified 2014-09-04 . 3.0 . 0 -194786 Simple 4647904 A . Benign/Likely benign 2 7 Hypogonadism with anosmia;Kallmann syndrome 2;Pfeiffer syndrome;Osteoglophonic dysplasia;not specified;Craniosynostosis;Nonsyndromic Trigonocephaly 2017-07-10 -26.4 1.0 Benign 1 -194790 Simple 345514 C . Benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -194792 Simple 144488384 T . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-04-25 -13.2 1.75 Benign/Likely benign 0 -194794 Simple 3814213 C . Benign 2 2 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -194795 Simple 3814212 G . Benign 2 2 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -194805 Simple 142027093 A . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2L;not provided 2017-08-21 18.0 0.6666666666666666 Pathogenic 0 -194810 Simple 372030650 A . Pathogenic/Likely pathogenic 2 3 Niemann-Pick disease type C1 2016-09-21 9.9 2.6666666666666665 Pathogenic/Likely pathogenic 0 -194821 Simple 199768782 T . Benign/Likely benign 2 2 not specified 2017-06-08 -8.4 1.0 Benign/Likely benign 0 -194832 Simple 74506912 C . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -194839 Simple 190664764 A . Benign/Likely benign 2 5 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified;not provided 2017-06-14 -22.5 1.4 Benign/Likely benign 0 -194840 Simple 139495331 T . Benign/Likely benign 2 3 Dysferlinopathy;not specified 2017-07-28 -13.8 1.0 Benign/Likely benign 0 -194842 Simple 138642043 T . Benign/Likely benign 2 2 not specified;not provided 2017-02-06 -7.8 2.0 Likely benign 1 -194852 Simple 114577182 A . Uncertain significance 2 2 not specified 2017-06-21 -0.54 1.5 Uncertain significance 0 -194856 Simple 2303071 T . Benign 2 3 Netherton syndrome;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -194857 Simple 140990288 T . Benign/Likely benign 2 3 not specified 2017-01-11 -11.1 2.0 Benign/Likely benign 0 -194868 Simple 61741524 A . Benign/Likely benign 2 3 Alstrom syndrome;not specified 2017-05-16 -13.8 1.0 Benign/Likely benign 0 -194869 Simple 201985795 C . Benign 2 3 not specified;Adams-Oliver syndrome 5 2017-07-19 -17.4 1.0 Benign/Likely benign 1 -194874 Simple 147466865 C . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -194877 Simple 41302133 A . Uncertain significance 2 2 not specified 2016-04-13 -0.54 2.0 Uncertain significance 0 -194881 Simple 730600 G . Benign 2 2 not specified;Distal spinal muscular atrophy 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -194883 Simple 532620254 T . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-01-19 -0.54 2.0 Uncertain significance 0 -194885 Simple 747294180 - . Benign 2 2 not specified;not provided 2016-05-10 -10.8 2.0 Benign/Likely benign 1 -194888 Simple 374805957 A . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.14 1.5 Uncertain significance 0 -194891 Simple 56234888 A . Benign/Likely benign 2 9 Hypogonadism with anosmia;Kallmann syndrome 2;Pfeiffer syndrome;Osteoglophonic dysplasia;not specified;not provided;Craniosynostosis;Nonsyndromic Trigonocephaly 2017-05-17 -37.2 1.2222222222222223 Benign 1 -194895 Simple 146899730 T . Uncertain significance 2 2 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -194900 Simple 62427038 C . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-07 -17.4 1.0 Benign/Likely benign 0 -194901 Simple 2285354 C . Benign 2 2 Cranioectodermal dysplasia;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -194902 Simple 12172926 T . Benign/Likely benign 2 5 Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-09 -25.2 1.4 Benign 1 -194903 Simple 865358 A . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-22 -18.0 2.25 Benign/Likely benign 0 -194904 Simple 75967604 - . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-27 -19.2 1.75 Benign/Likely benign 0 -194915 Simple 79887212 T . Benign 2 2 Cone-rod dystrophy 6;Leber congenital amaurosis 1;not specified 2017-05-07 -10.8 1.5 Benign/Likely benign 1 -194916 Simple 142351773 A . Benign 2 2 Cone-rod dystrophy 6;Leber congenital amaurosis 1;not specified 2017-05-07 -10.8 1.5 Benign/Likely benign 1 -194921 Simple 8187801 T . Benign 2 2 not specified 2016-02-19 -10.8 2.0 Benign/Likely benign 1 -194932 Simple 794727224 G . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2017-02-23 -0.54 2.0 Uncertain significance 0 -194938 Simple 77706858 C . Benign/Likely benign 2 4 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2017-04-25 -13.8 1.25 Benign/Likely benign 0 -194947 Simple 151241025 G . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-05-19 -14.4 1.0 Benign/Likely benign 0 -194951 Simple 372330460 A . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-06-06 -8.7 1.0 Benign/Likely benign 0 -194952 Simple 794727226 G . Uncertain significance 2 2 not specified 2017-09-21 -0.5700000000000001 1.0 Uncertain significance 0 -194954 Simple 1051340 T . Benign 2 4 Achondrogenesis;not specified 2016-08-16 -23.4 1.25 Benign/Likely benign 1 -194964 Simple 368873021 C . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 1F;not specified 2016-10-18 -0.6 1.0 Uncertain significance 0 -194965 Simple 142299878 T . Uncertain significance 2 4 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-10-10 -1.2 0.5 Uncertain significance 0 -194972 Simple 34490902 C . Benign 2 2 Three M syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -194975 Simple 145039915 A . Benign/Likely benign 2 2 Inclusion body myopathy 3;not specified 2017-07-17 -10.8 1.5 Benign/Likely benign 0 -194977 Simple 748573566 - . Benign 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-08-08 -11.4 1.0 Benign/Likely benign 1 -194978 Simple 62639695 T . Benign 2 2 not specified;Distal spinal muscular atrophy 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -194979 Simple 113541584 - . Benign/Likely benign 2 2 not specified;Distal spinal muscular atrophy 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -194980 Simple 146810749 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-13 -14.4 1.3333333333333333 Benign/Likely benign 0 -194991 Simple 149670417 A . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-17 -17.4 1.2 Benign/Likely benign 0 -194994 Simple 200353947 AA . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-07 -10.8 1.5 Benign/Likely benign 0 -194998 Simple 138993311 T . Uncertain significance 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -195004 Simple 200631556 G . Uncertain significance 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-06-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -195006 Simple 72677229 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -195007 Simple 780425464 T . Uncertain significance 2 3 Adenylosuccinate lyase deficiency;not specified 2017-04-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -195011 Simple 1801505 A . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy, type 2A;not specified 2017-08-03 -16.8 1.3333333333333333 Benign/Likely benign 0 -195014 Simple 79724538 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-03-05 -19.2 1.5 Benign/Likely benign 0 -195022 Simple 150338273 A . Uncertain significance 2 4 Cerebral creatine deficiency syndrome;not specified;not provided 2017-03-06 -1.14 1.25 Uncertain significance 0 -195025 Simple 756928158 A . Pathogenic/Likely pathogenic 2 2 X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X 2017-06-26 8.4 1.5 Pathogenic/Likely pathogenic 0 -195031 Simple 529594203 T . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.54 2.0 Uncertain significance 0 -195033 Simple 763494292 A . Pathogenic 2 2 Deficiency of hydroxymethylglutaryl-CoA lyase;not provided 2016-09-21 10.8 2.0 Pathogenic/Likely pathogenic 1 -195034 Simple 34014008 A . Benign/Likely benign 2 2 Holt-Oram syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -195038 Simple 58037052 A . Benign 2 2 not specified;not provided 2017-01-27 -10.8 2.0 Benign/Likely benign 1 -195043 Simple 4766310 A . Benign 2 3 Episodic ataxia;not specified;Myokymia 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -195045 Simple 76066681 G . Benign 2 4 Episodic ataxia type 1;Episodic ataxia;not specified;Myokymia 2017-08-11 -22.8 1.25 Benign/Likely benign 1 -195049 Simple 1051338 G . Benign 2 3 Wolman disease;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -195051 Simple 2071046 C . Benign 2 1 not specified 2014-09-08 . 3.0 . 0 -195059 Simple 397784956 - . Benign 2 3 Combined deficiency of sialidase AND beta galactosidase;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -195063 Simple 137950927 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -195064 Simple 150168119 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -195069 Simple 117696751 A . Benign/Likely benign 2 3 Camptomelic dysplasia;not specified 2016-06-27 -11.4 1.6666666666666667 Benign/Likely benign 0 -195070 Simple 41303167 C . Benign/Likely benign 2 2 not specified 2016-03-04 -7.800000000000001 2.5 Likely benign 1 -195078 Simple 34539681 C . Benign/Likely benign 2 2 not specified;Metaphyseal chondrodysplasia 2016-06-14 -7.8 2.0 Likely benign 1 -195083 Simple 138630815 T . Uncertain significance 2 3 not specified 2017-04-19 -0.84 1.3333333333333333 Uncertain significance 0 -195087 Simple 74053349 T . Benign/Likely benign 2 3 Sphingomyelin/cholesterol lipidosis;not specified;not provided 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -195091 Simple 35824453 A . Benign/Likely benign 2 3 Sphingomyelin/cholesterol lipidosis;not specified;not provided 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -195096 Simple 2307130 G . Benign 2 4 Glycogen storage disease type III;not specified 2017-08-01 -22.2 1.5 Benign/Likely benign 1 -195097 Simple 113994127 - . Pathogenic/Likely pathogenic 2 3 Glycogen storage disease type III;Glycogen storage disease IIIb;GLYCOGEN STORAGE DISEASE, TYPE IIIb 2016-06-14 10.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -195100 Simple 77084550 G . Benign 2 2 Lethal multiple pterygium syndrome;not specified 2017-08-09 -11.4 1.0 Benign/Likely benign 1 -195103 Simple 148318860 A . Benign/Likely benign 2 5 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-11 -19.8 1.0 Benign/Likely benign 0 -195107 Simple 187333111 T . Benign/Likely benign 2 2 not specified;not provided 2017-05-30 -7.8 1.5 Likely benign 1 -195109 Simple 143592561 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -195111 Simple 13447394 A . Benign/Likely benign 2 3 not specified 2016-08-22 -13.5 2.0 Benign/Likely benign 0 -195112 Simple 2229857 C . Benign 2 2 Symmetrical dyschromatosis of extremities;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -195113 Simple 3812951 A . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-30 -14.4 1.3333333333333333 Benign/Likely benign 0 -195114 Simple 904783 G . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -17.4 1.3333333333333333 Benign/Likely benign 1 -195116 Simple 199760004 T . Benign/Likely benign 2 3 not specified;not provided 2017-06-22 -11.4 1.0 Benign/Likely benign 0 -195125 Simple 1983014 G . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -16.8 1.6666666666666667 Benign/Likely benign 1 -195126 Simple 199897247 T . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-10-31 -11.4 1.0 Benign/Likely benign 0 -195127 Simple 368482631 G . Uncertain significance 2 2 not specified 2016-11-22 -0.54 2.0 Uncertain significance 0 -195130 Simple 199960045 A . Uncertain significance 2 2 not specified 2016-10-13 -0.5700000000000001 1.5 Uncertain significance 0 -195131 Simple 148442069 C . Uncertain significance 2 3 not specified;Early infantile epileptic encephalopathy 2017-02-09 -0.87 1.3333333333333333 Uncertain significance 0 -195132 Simple 794727259 C . Uncertain significance 2 2 not specified 2014-07-04 -0.42 4.0 Uncertain significance 0 -195133 Simple 202124579 T . Uncertain significance 2 2 Myoclonic epilepsy, familial infantile;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -195135 Simple 201060500 T . Benign/Likely benign 2 6 Epileptic encephalopathy, early infantile, 1;not specified;not provided;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-06-15 -19.8 1.0 Benign/Likely benign 0 -195136 Simple 1049007 G . Benign 2 1 not specified 2014-10-20 . 3.0 . 0 -195137 Simple 2273073 G . Benign 2 1 not specified 2014-10-08 . 3.0 . 0 -195140 Simple 650241 G . Benign 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -195141 Simple 584961 G . Benign 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -195143 Simple 141721173 A . Uncertain significance 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -195148 Simple 794727261 T . Pathogenic 2 2 Stickler syndrome type 1;not provided 2016-10-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -195150 Simple 137964147 T . Uncertain significance 2 3 not specified 2017-02-02 -0.8999999999999999 1.0 Uncertain significance 0 -195154 Simple 2273078 A . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -195155 Simple 2273079 T . Benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -195162 Simple 78807992 T . Benign/Likely benign 2 2 not specified 2017-10-27 -8.4 1.0 Benign/Likely benign 0 -195165 Simple 145947380 C . Uncertain significance 2 6 Pendred's syndrome;SeSAME syndrome;not specified;Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome;Nonsyndromic Hearing Loss, Mixed 2017-07-12 -1.74 1.1666666666666667 Uncertain significance 0 -195166 Simple 41494349 G . Benign 2 1 not specified 2014-11-06 . 3.0 . 0 -195169 Simple 28598872 A . Benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -195170 Simple 28401180 T . Benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -195177 Simple 757120802 C . Uncertain significance 2 3 Progressive sclerosing poliodystrophy;not specified 2017-10-26 -0.87 0.6666666666666666 Uncertain significance 0 -195178 Simple 768005050 A . Uncertain significance 2 2 not specified 2015-03-06 -0.51 2.5 Uncertain significance 0 -195179 Simple 201016638 C . Likely benign 2 5 Progressive sclerosing poliodystrophy;not specified 2017-07-17 -14.7 0.6 Benign/Likely benign 1 -195182 Simple 765472726 T . Uncertain significance 2 3 not specified 2017-06-22 -0.84 1.3333333333333333 Uncertain significance 0 -195190 Simple 146655918 C . Likely benign 2 2 Townes-Brocks syndrome 1;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -195197 Simple 41285015 G . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -195202 Simple 2277439 A . Benign 2 2 not specified;Osteopetrosis 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -195211 Simple 754763002 G . Uncertain significance 2 2 Episodic ataxia;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -195214 Simple 369247929 A . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-07-06 -0.54 1.5 Uncertain significance 0 -195222 Simple 796051964 TT . Pathogenic 2 3 Glutaric aciduria, type 2;not provided 2017-05-12 16.8 1.0 Pathogenic 0 -195228 Simple 34363823 C . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -195229 Simple 202245263 C . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -195239 Simple 797044677 CC . Pathogenic 2 2 Multiple pterygium syndrome Escobar type;not provided 2017-03-16 10.8 1.5 Pathogenic/Likely pathogenic 1 -195241 Simple 146945932 A . Uncertain significance 2 2 Achromatopsia;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -195245 Simple 35035064 G . Benign/Likely benign 2 3 Progressive myoclonic epilepsy;not specified 2016-08-22 -13.8 1.6666666666666667 Benign/Likely benign 0 -195246 Simple 146325169 A . Uncertain significance 2 2 Epidermolysis bullosa, junctional;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -195250 Simple 61758066 C . Benign/Likely benign 2 3 not specified;not provided;Retinitis Pigmentosa, Dominant 2017-08-24 -10.8 1.3333333333333333 Benign/Likely benign 0 -195251 Simple 112527210 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -195256 Simple 138165486 T . Uncertain significance 2 2 not specified;Monogenic diabetes 2015-07-30 -0.51 2.5 Uncertain significance 0 -195265 Simple 4076086 T . Benign 2 3 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -195266 Simple 35357409 G . Benign/Likely benign 2 5 Osteogenesis imperfecta type 7;not specified;not provided;Osteogenesis Imperfecta, Recessive 2017-07-31 -25.8 1.0 Benign 1 -195270 Simple 147783915 T . Benign/Likely benign 2 2 Retinitis pigmentosa 15;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -195275 Simple 11107 A . Benign 2 2 not specified;Parkinson Disease, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -195280 Simple 117599771 C . Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-06-22 -6.0 0.5 Likely benign 0 -195281 Simple 200196832 A . Uncertain significance 2 3 Bardet-Biedl syndrome;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -195282 Simple 763172140 G . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2017-02-08 -0.5700000000000001 1.5 Uncertain significance 0 -195292 Simple 137924687 A . Uncertain significance 2 2 not specified 2017-09-19 -0.54 1.5 Uncertain significance 0 -195304 Simple 150994958 A . Uncertain significance 2 3 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2017-11-06 -0.87 1.0 Uncertain significance 0 -195311 Simple 183969516 C . Uncertain significance 2 2 not specified 2016-01-23 -0.51 2.5 Uncertain significance 0 -195313 Simple 200532919 C . Uncertain significance 2 2 not specified 2015-11-12 -0.51 2.5 Uncertain significance 0 -195315 Simple 2955365 A . Benign/Likely benign 2 4 not specified;Nonsyndromic Hearing Loss, Recessive 2017-01-05 -19.8 1.5 Benign/Likely benign 0 -195321 Simple 794727293 T . Pathogenic 2 4 CHARGE association;not specified;not provided 2017-02-17 22.8 1.5 Pathogenic 0 -195325 Simple 200644351 G . Uncertain significance 2 2 not specified;not provided 2017-06-15 -0.6 0.5 Uncertain significance 0 -195326 Simple 200898742 A . Benign 2 2 CHARGE association;not specified 2017-03-10 -10.8 1.5 Benign/Likely benign 1 -195330 Simple 148577619 G . Benign 2 3 CHARGE association;not specified 2017-02-17 -16.2 2.0 Benign/Likely benign 1 -195334 Simple 794727298 T . Pathogenic 2 2 CHARGE association;not provided 2016-01-26 10.2 2.5 Pathogenic/Likely pathogenic 1 -195336 Simple 200327756 G . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -195337 Simple 150895887 T . Benign/Likely benign 2 2 not specified;not provided 2015-09-29 -7.5 2.5 Likely benign 1 -195339 Simple 77109827 G . Benign 2 2 not specified 2015-12-10 -10.2 2.5 Benign/Likely benign 1 -195341 Simple 199874738 T . Uncertain significance 2 2 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 -0.54 2.0 Uncertain significance 0 -195342 Simple 202141764 A . Uncertain significance 2 2 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 -0.54 2.0 Uncertain significance 0 -195344 Simple 143694317 T . Uncertain significance 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-08-09 -0.84 1.0 Uncertain significance 0 -195345 Simple 373957283 T . Uncertain significance 2 2 not specified 2016-09-29 -0.54 2.0 Uncertain significance 0 -195348 Simple 147181589 T . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-09-01 -11.4 0.6666666666666666 Benign/Likely benign 0 -195350 Simple 75932628 T . Likely benign 2 2 not specified;not provided 2017-06-14 -5.4 1.5 Likely benign 0 -195355 Simple 192003551 T . Pathogenic 2 2 Cone-rod dystrophy 13 2016-03-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -195357 Simple 150549656 G . Benign 2 3 not specified;SALL4-Related Spectrum Disorders 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -195362 Simple 41274696 A . Likely benign 2 3 not specified;not provided;SALL4-Related Spectrum Disorders 2017-02-13 -8.4 1.6666666666666667 Benign/Likely benign 1 -195367 Simple 9869263 G . Benign 2 1 not specified 2014-09-19 . 3.0 . 0 -195368 Simple 56092423 A . Benign/Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-08-04 -28.8 1.125 Benign 1 -195370 Simple 140027863 G . Uncertain significance 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -195381 Simple 777999570 C . Uncertain significance 2 2 not specified 2015-02-24 -0.48 3.0 Uncertain significance 0 -195384 Simple 77400039 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-08-08 -13.8 1.3333333333333333 Benign/Likely benign 0 -195386 Simple 185924269 C . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -195388 Simple 149000560 A . Benign 2 2 Leukocyte adhesion deficiency, type III;not specified 2017-08-07 -11.4 1.0 Benign/Likely benign 1 -195389 Simple 144447862 T . Uncertain significance 2 2 Nephronophthisis;not specified 2016-11-07 -0.54 2.0 Uncertain significance 0 -195391 Simple 146573280 C . Benign 2 2 not specified 2016-05-02 -11.4 1.5 Benign/Likely benign 1 -195392 Simple 139127905 C . Benign/Likely benign 2 3 not specified;Macular degeneration;Cone-Rod Dystrophy, Dominant 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -195396 Simple 141174358 T . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -195398 Simple 8077024 G . Benign 2 2 not specified;Desbuquois Dysplasia 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -195416 Simple 7665271 C . Benign/Likely benign 2 3 Bardet-Biedl syndrome;not specified 2017-07-09 -14.4 1.0 Benign/Likely benign 0 -195417 Simple 201296399 G . Uncertain significance 2 2 not specified 2015-06-30 -0.54 2.0 Uncertain significance 0 -195424 Simple 139071237 T . Benign/Likely benign 2 3 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -195425 Simple 41269547 G . Benign/Likely benign 2 5 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;not provided;Ellis-van Creveld Syndrome 2017-04-11 -19.8 1.2 Benign/Likely benign 0 -195426 Simple 369970931 C . Benign/Likely benign 2 3 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -195428 Simple 144982584 T . Likely benign 2 2 not specified 2016-02-01 -5.1 2.5 Likely benign 0 -195431 Simple 148630483 T . Uncertain significance 2 2 not specified 2014-12-29 -0.48 3.0 Uncertain significance 0 -195432 Simple 12623857 G . Benign 2 4 Craniofacial deafness hand syndrome;Waardenburg syndrome;not specified 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -195436 Simple 148810231 T . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -195437 Simple 4698797 A . Benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -195438 Simple 79039619 G . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -195439 Simple 75301950 T . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -195441 Simple 794727316 A . Pathogenic 2 2 Acrocallosal syndrome, Schinzel type;not provided 2016-03-24 11.4 1.5 Pathogenic/Likely pathogenic 1 -195442 Simple 77713666 G . Benign/Likely benign 2 4 Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -195445 Simple 4755228 A . Benign 2 3 Multiple exostoses type 2;not specified;Hereditary Multiple Osteochondromatosis 2017-06-22 -16.8 1.3333333333333333 Benign/Likely benign 1 -195451 Simple 41317361 A . Benign/Likely benign 2 7 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2017-07-19 -31.8 1.1428571428571428 Benign 1 -195459 Simple 190659146 C . Benign/Likely benign 2 3 Bifunctional peroxisomal enzyme deficiency;not specified;Perrault Syndrome 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -195464 Simple 1800118 T . Benign/Likely benign 2 6 Cystic fibrosis;not specified 2017-06-16 -27.0 1.6666666666666667 Benign 1 -195468 Simple 144493712 C . Benign/Likely benign 2 4 Cranioectodermal dysplasia 2;Short rib polydactyly syndrome 5;Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2017-06-07 -17.4 1.0 Benign/Likely benign 0 -195470 Simple 376365775 T . Uncertain significance 2 3 not specified 2017-03-21 -0.87 1.0 Uncertain significance 0 -195473 Simple 61734583 T . Benign/Likely benign 2 3 not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -195475 Simple 112968165 T . Benign/Likely benign 2 2 not specified 2016-08-18 -8.4 1.5 Benign/Likely benign 0 -195479 Simple 71664954 G . Benign 2 5 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-10-05 -28.8 1.4 Benign 0 -195480 Simple 35967616 T . Likely benign 2 2 not specified 2016-05-05 -5.4 2.0 Likely benign 0 -195482 Simple 41289636 A . Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -5.4 2.0 Likely benign 0 -195485 Simple 142328132 C . Likely benign 2 1 not specified 2014-06-20 . 3.0 . 0 -195487 Simple 201192905 C . Uncertain significance 2 3 not specified 2017-05-04 -0.84 1.3333333333333333 Uncertain significance 0 -195492 Simple 147931243 G . Benign 2 4 Duchenne muscular dystrophy;not specified 2017-01-11 -22.2 1.75 Benign/Likely benign 1 -195493 Simple 138145424 C . Uncertain significance 2 3 not specified 2017-08-09 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -195496 Simple 779335083 AA . Benign 2 2 not specified 2016-10-28 -10.8 2.0 Benign/Likely benign 1 -195501 Simple 142180765 - . Benign/Likely benign 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -7.8 2.0 Likely benign 1 -195509 Simple 367664952 T . Uncertain significance 2 3 Autism 15;Cortical dysplasia-focal epilepsy syndrome;not specified 2017-05-23 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -195517 Simple 370223713 C . Benign/Likely benign 2 2 Inclusion body myopathy 3;not specified 2017-07-17 -10.8 1.5 Benign/Likely benign 0 -195521 Simple 148900528 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-10-30 -10.8 2.0 Benign/Likely benign 1 -195522 Simple 374909386 A . Pathogenic/Likely pathogenic 2 2 Primary ciliary dyskinesia;Ciliary dyskinesia, primary, 15 2017-03-21 7.8 1.5 Likely pathogenic 1 -195523 Simple 145595957 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-10-30 -10.8 2.0 Benign/Likely benign 1 -195524 Simple 186591691 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-10-30 -10.8 2.0 Benign/Likely benign 1 -195525 Simple 72650740 A . Benign/Likely benign 2 4 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II;not specified 2017-07-29 -14.4 1.25 Benign/Likely benign 0 -195526 Simple 773530688 T . Uncertain significance 2 2 not specified 2017-06-20 -0.54 1.5 Uncertain significance 0 -195529 Simple 76021817 A . Benign/Likely benign 2 3 not specified;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -195530 Simple 144600502 AA . Benign/Likely benign 2 5 Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified 2016-12-05 -22.8 1.4 Benign/Likely benign 0 -195531 Simple 34489989 A . Uncertain significance 2 3 Jeune thoracic dystrophy;Joubert syndrome;not specified;not provided 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -195533 Simple 138283222 A . Benign/Likely benign 2 4 Chromosome 9q deletion syndrome;not specified;not provided 2017-06-15 -13.8 1.0 Benign/Likely benign 0 -195539 Simple 12511039 A . Benign 2 3 not specified;Ellis-van Creveld Syndrome 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -195540 Simple 116218656 T . Benign/Likely benign 2 4 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-05-10 -19.8 1.25 Benign/Likely benign 0 -195543 Simple 61910685 T . Benign/Likely benign 2 4 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-08-11 -22.2 1.5 Benign/Likely benign 0 -195546 Simple 199640194 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-01-31 -1.1400000000000001 1.5 Uncertain significance 0 -195558 Simple 41304383 C . Benign 2 1 not specified 2014-12-18 . 3.0 . 0 -195561 Simple 5901000 AA . Benign, other 2 1 Tuberous sclerosis 1;not provided 2015-07-10 . 2.0 . 0 -195562 Simple 5901000 AA . Benign 2 2 Tuberous sclerosis 1;not specified 2015-07-10 -10.2 2.5 Benign/Likely benign 1 -195567 Simple 748169173 A . Uncertain significance 2 2 Werner syndrome;not specified 2016-10-24 -0.5700000000000001 1.5 Uncertain significance 0 -195573 Simple 772989979 - . Benign/Likely benign 2 3 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-06-20 -13.8 1.0 Benign/Likely benign 0 -195574 Simple 750826355 - . Uncertain significance 2 2 not specified 2017-09-25 -0.5700000000000001 1.0 Uncertain significance 0 -195579 Simple 72657309 C . Uncertain significance 2 3 Ciliary dyskinesia, primary, 7;Primary ciliary dyskinesia;not specified 2017-05-24 -0.87 0.6666666666666666 Uncertain significance 0 -195580 Simple 150900416 A . Benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-07-12 -16.8 1.3333333333333333 Benign/Likely benign 1 -195581 Simple 200150148 C . Likely benign 2 3 not specified 2016-07-21 -8.1 2.0 Likely benign 0 -195587 Simple 2229009 A . Benign/Likely benign 2 3 Generalized epilepsy and paroxysmal dyskinesia;not specified 2017-05-31 -14.4 1.0 Benign/Likely benign 0 -195589 Simple 139691746 A . Benign/Likely benign 2 3 not specified 2016-04-13 -13.5 2.0 Benign/Likely benign 0 -195591 Simple 536732038 T . Uncertain significance 2 2 not specified 2017-07-03 -0.54 1.5 Uncertain significance 0 -195599 Simple 149922633 G . Benign/Likely benign 2 3 Duchenne muscular dystrophy;not specified 2016-11-24 -13.8 2.0 Benign/Likely benign 0 -195606 Simple 143519723 T . Benign/Likely benign 2 2 Floating-Harbor syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -195608 Simple 116606479 T . Uncertain significance 2 5 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-06-21 -1.5 0.8 Uncertain significance 0 -195610 Simple 187947581 C . Benign/Likely benign 2 2 not specified;not provided 2015-05-22 -7.5 2.5 Likely benign 1 -195613 Simple 34265978 A . Benign 2 1 not specified 2015-03-02 . 3.0 . 0 -195616 Simple 79899243 T . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -195618 Simple 139114208 T . Benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-06-13 -10.8 1.5 Benign/Likely benign 1 -195619 Simple 149028586 T . Benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-11 -17.4 1.0 Benign/Likely benign 1 -195621 Simple 555557314 - . Uncertain significance 2 3 Jeune thoracic dystrophy;Cranioectodermal dysplasia;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -195636 Simple 200944827 T . Uncertain significance 2 3 not specified 2017-09-14 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -195639 Simple 377141765 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-18 -0.84 1.3333333333333333 Uncertain significance 0 -195641 Simple 778768583 C . Pathogenic 2 4 Limb-girdle muscular dystrophy, type 2A;not provided 2017-04-17 23.4 1.0 Pathogenic 0 -195643 Simple 1800419 G . Benign 2 2 not specified;Oculocutaneous albinism 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -195650 Simple 113512079 A . Benign/Likely benign 2 2 not specified 2017-10-17 -8.4 1.0 Benign/Likely benign 0 -195657 Simple 1800380 T . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -195667 Simple 192843629 A . Uncertain significance 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-08-16 -0.84 1.6666666666666667 Uncertain significance 0 -195668 Simple 58266192 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-07-15 -10.8 2.0 Benign/Likely benign 1 -195671 Simple 797044684 T . Uncertain significance 2 2 not specified 2014-06-11 -0.48 3.0 Uncertain significance 0 -195673 Simple 200624778 T . Uncertain significance 2 2 not specified 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -195683 Simple 34018300 A . Benign/Likely benign 2 2 not specified 2017-06-20 -8.4 1.0 Benign/Likely benign 0 -195697 Simple 794727365 A . Pathogenic 2 2 Cryptophthalmos syndrome;not provided 2014-12-19 9.6 3.0 Pathogenic/Likely pathogenic 1 -195704 Simple 199603169 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -195708 Simple 532589236 T . Benign/Likely benign 2 2 not specified 2016-09-23 -8.7 1.5 Benign/Likely benign 0 -195710 Simple 367603302 T . Uncertain significance 2 3 not specified 2015-11-13 -0.81 2.0 Uncertain significance 0 -195714 Simple 536494011 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-13 -0.87 1.0 Uncertain significance 0 -195716 Simple 375309278 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -195721 Simple 371761874 C . Uncertain significance 2 2 Gorlin syndrome;not specified 2016-08-26 -0.5700000000000001 1.5 Uncertain significance 0 -195727 Simple 550526986 T . Uncertain significance 2 2 not specified 2016-09-29 -0.5700000000000001 1.5 Uncertain significance 0 -195739 Simple 199917719 A . Benign/Likely benign 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-25 -18.9 1.75 Benign/Likely benign 0 -195748 Simple 143568054 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -195749 Simple 138654170 A . Uncertain significance 2 2 Dysferlinopathy;not specified 2016-11-29 -0.5700000000000001 1.5 Uncertain significance 0 -195752 Simple 72468667 G . Benign/Likely benign 2 4 Duchenne muscular dystrophy;not specified 2017-09-15 -17.4 1.0 Benign/Likely benign 0 -195766 Simple 142685897 G . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -195769 Simple 143872329 T . Benign/Likely benign 2 2 Inclusion body myopathy 3;not specified 2017-03-16 -7.8 1.5 Likely benign 1 -195770 Simple 73559947 A . Benign/Likely benign 2 1 not specified 2015-04-01 . 2.0 . 0 -195779 Simple 376033376 A . Uncertain significance 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-21 -1.2 0.75 Uncertain significance 0 -195780 Simple 146818399 G . Uncertain significance 2 2 not specified 2015-04-30 -0.51 2.5 Uncertain significance 0 -195781 Simple 371570973 A . Uncertain significance 2 2 Cranioectodermal dysplasia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -195784 Simple 146890274 T . Uncertain significance 2 2 not specified 2015-03-11 -0.51 2.5 Uncertain significance 0 -195785 Simple 181994120 A . Benign/Likely benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -195789 Simple 116099212 A . Benign/Likely benign 2 2 not specified;not provided 2015-09-29 -7.5 2.5 Likely benign 1 -195796 Simple 529480368 T . Uncertain significance 2 2 not specified 2014-12-17 -0.48 3.0 Uncertain significance 0 -195803 Simple 75602337 C . Uncertain significance 2 3 Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -195813 Simple 80251646 G . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -195815 Simple 201145311 A . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-05-19 -14.4 1.0 Benign/Likely benign 0 -195825 Simple 62642528 A . Benign/Likely benign 2 2 not specified 2017-01-04 -8.4 1.5 Benign/Likely benign 0 -195832 Simple 750115460 T . Uncertain significance 2 2 not specified 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -195837 Simple 76646638 T . Benign/Likely benign 2 6 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-13 -19.8 1.0 Benign/Likely benign 0 -195842 Simple 199787097 C . Uncertain significance 2 2 not specified 2017-01-26 -0.54 2.0 Uncertain significance 0 -195843 Simple 191927501 T . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-07-24 -1.29 2.0 Uncertain significance 0 -195844 Simple 745631866 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-22 -0.54 2.0 Uncertain significance 0 -195848 Simple 199682686 C . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2015-12-22 -0.51 2.5 Uncertain significance 0 -195850 Simple 775404728 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-09-13 -0.5700000000000001 1.5 Uncertain significance 0 -195851 Simple 8187692 T . Benign/Likely benign 2 2 Dubin-Johnson syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -195856 Simple 149932255 A . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-03 -17.4 1.0 Benign/Likely benign 1 -195857 Simple 534045685 T . Benign/Likely benign 2 2 not specified 2016-09-30 -7.8 2.0 Likely benign 1 -195860 Simple 138492730 C . Uncertain significance 2 2 Werner syndrome;not specified 2017-05-30 -0.5700000000000001 1.0 Uncertain significance 0 -195868 Simple 145172612 A . Uncertain significance 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2016-06-14 -1.14 1.5 Uncertain significance 0 -195872 Simple 741758 C . Benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -195873 Simple 751557 A . Benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -195888 Simple 200175704 T . Uncertain significance 2 2 Floating-Harbor syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -195894 Simple 749509661 A . Pathogenic 2 2 Three M syndrome 1;Inborn genetic diseases 2014-12-22 9.6 3.0 Pathogenic/Likely pathogenic 1 -195896 Simple 794727405 T . Pathogenic 2 2 Dominant hereditary optic atrophy;not provided 2014-10-09 9.6 3.0 Pathogenic/Likely pathogenic 1 -195900 Simple 142674934 T . Uncertain significance 2 5 Cohen syndrome;not specified 2017-06-16 -1.38 1.4 Uncertain significance 0 -195903 Simple 138989066 C . Benign/Likely benign 2 1 not specified 2014-10-07 . 3.0 . 0 -195905 Simple 111508546 - . Benign/Likely benign 2 3 Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17 2017-08-08 -13.8 1.3333333333333333 Benign/Likely benign 0 -195907 Simple 6692009 T . Benign 2 2 Hajdu-Cheney syndrome;not specified 2017-08-12 -11.4 1.0 Benign/Likely benign 1 -195915 Simple 371271326 T . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-16 -17.7 0.75 Benign/Likely benign 0 -195917 Simple 771610118 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-04 -0.54 1.5 Uncertain significance 0 -195919 Simple 756873840 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-17 -0.81 1.6666666666666667 Uncertain significance 0 -195928 Simple 794727410 T . Uncertain significance 2 2 not specified;Delayed speech and language development;Dilated cardiomyopathy;Epicanthus;Delayed gross motor development;Sagittal craniosynostosis;Lambdoidal craniosynostosis;Muscular ventricular septal defect 2015-05-12 -0.51 2.5 Uncertain significance 0 -195930 Simple 375699173 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-10-17 -13.8 1.0 Benign/Likely benign 0 -195934 Simple 190790872 A . Uncertain significance 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-04-19 -0.54 1.5 Uncertain significance 0 -195942 Simple 148546224 A . Benign/Likely benign 2 6 Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy 2017-03-04 -27.6 1.6666666666666667 Benign 1 -195943 Simple 150570058 C . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-07-02 -14.4 1.3333333333333333 Benign/Likely benign 0 -195950 Simple 61749897 G . Benign 2 5 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -29.4 1.0 Benign 0 -195952 Simple 374315921 G . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-02-08 -0.6 1.0 Uncertain significance 0 -195955 Simple 28562813 A . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-04-27 -16.8 1.0 Benign/Likely benign 0 -195957 Simple 9346373 C . Benign/Likely benign 2 4 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-09-30 -16.8 1.5 Benign/Likely benign 0 -195961 Simple 201622087 A . Uncertain significance 2 2 Dysferlinopathy;not specified 2017-04-25 -0.5700000000000001 1.0 Uncertain significance 0 -195964 Simple 1521808 T . Benign, other 2 1 not specified;not provided 2016-07-12 . 1.0 . 0 -195970 Simple 140728855 A . Uncertain significance 2 2 not specified 2017-01-30 -0.5700000000000001 1.5 Uncertain significance 0 -195975 Simple 3739927 C . Benign 2 3 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -195981 Simple 794727425 - . Benign/Likely benign 2 2 not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -195982 Simple 143198263 A . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-10-12 -11.7 0.6666666666666666 Benign/Likely benign 0 -195983 Simple 794727426 - . Benign/Likely benign 2 3 not specified 2016-04-05 -11.4 1.6666666666666667 Benign/Likely benign 0 -195990 Simple 143093185 A . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2016-10-16 -0.5700000000000001 1.5 Uncertain significance 0 -195993 Simple 144456585 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-12 -11.1 1.6666666666666667 Benign/Likely benign 0 -195995 Simple 794727430 G . Uncertain significance 2 2 Nephronophthisis;not specified 2016-10-10 -0.54 2.0 Uncertain significance 0 -196002 Simple 768057735 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-12 -0.87 1.0 Uncertain significance 0 -196004 Simple 764330098 C . Uncertain significance 2 2 not specified 2014-12-12 -0.44999999999999996 3.5 Uncertain significance 0 -196009 Simple 688906 G . Benign 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -28.2 1.6 Benign 0 -196010 Simple 371259464 C . Uncertain significance 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -196011 Simple 794727435 - . Benign/Likely benign 2 2 not specified 2016-11-18 -7.8 2.0 Likely benign 1 -196015 Simple 794727437 - . Benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-28 -10.8 1.5 Benign/Likely benign 1 -196018 Simple 201617759 A . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -196019 Simple 794727439 C . Uncertain significance 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -0.84 1.3333333333333333 Uncertain significance 0 -196020 Simple 111558968 A . Benign/Likely benign 2 12 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-06-23 -44.1 1.0 Benign 1 -196022 Simple 144636654 T . Uncertain significance 2 6 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-25 -1.77 0.8333333333333334 Uncertain significance 0 -196027 Simple 114003896 G . Benign/Likely benign 2 3 not specified;Lissencephaly, Recessive 2016-06-14 -10.5 2.0 Benign/Likely benign 0 -196030 Simple 555793953 - . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-04-28 -11.4 1.3333333333333333 Benign/Likely benign 0 -196031 Simple 373599521 G . Uncertain significance 2 2 not specified;Spastic paraplegia 2015-11-06 -0.54 2.0 Uncertain significance 0 -196032 Simple 144624477 A . Benign 2 2 Nephronophthisis;not specified 2017-04-19 -10.8 1.5 Benign/Likely benign 1 -196035 Simple 184725551 A . Benign/Likely benign 2 2 Inclusion body myopathy 3;not specified 2017-07-17 -7.8 1.5 Likely benign 1 -196036 Simple 115338154 G . Benign/Likely benign 2 3 Joubert syndrome;not specified 2017-09-14 -13.8 1.0 Benign/Likely benign 0 -196039 Simple 794727444 A . Pathogenic/Likely pathogenic 2 4 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided;Epileptic encephalopathy 2017-03-15 16.8 1.75 Pathogenic 1 -196041 Simple 35774552 C . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -196042 Simple 12512164 A . Benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -196045 Simple 200556301 G . Benign/Likely benign 2 2 not specified 2016-10-10 -8.4 1.5 Benign/Likely benign 0 -196047 Simple 141464488 G . Likely benign 2 7 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-17 -20.7 0.8571428571428571 Benign/Likely benign 1 -196056 Simple 72646882 T . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-06-14 -11.4 1.0 Benign/Likely benign 1 -196058 Simple 760509116 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-10-19 -0.84 1.3333333333333333 Uncertain significance 0 -196066 Simple 200771189 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-16 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -196067 Simple 768259414 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-12 -0.5700000000000001 1.0 Uncertain significance 0 -196070 Simple 371362606 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.37 1.125 Uncertain significance 0 -196071 Simple 763560084 G . Uncertain significance 2 2 not specified 2015-06-03 -0.51 2.5 Uncertain significance 0 -196082 Simple 372782502 G . Uncertain significance 2 2 not specified 2015-04-28 -0.51 2.5 Uncertain significance 0 -196086 Simple 748258568 A . Uncertain significance 2 2 not specified 2015-06-23 -0.54 2.0 Uncertain significance 0 -196092 Simple 545556079 G . Uncertain significance 2 2 not specified 2017-06-06 -0.54 1.5 Uncertain significance 0 -196094 Simple 794727456 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -196101 Simple 3740066 T . Benign 2 2 Dubin-Johnson syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -196104 Simple 201552166 T . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-17 -20.4 0.75 Benign/Likely benign 0 -196110 Simple 201312753 A . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-23 -0.84 1.3333333333333333 Uncertain significance 0 -196111 Simple 201904661 G . Benign/Likely benign 2 3 not specified 2017-08-07 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -196115 Simple 373274913 A . Benign 2 2 Bethlem myopathy 1;not specified 2017-04-24 -12.0 0.5 Benign/Likely benign 1 -196116 Simple 548194162 A . Benign 2 2 Bethlem myopathy 1;not specified 2017-07-14 -11.4 1.0 Benign/Likely benign 1 -196118 Simple 797044699 CC . Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-08-02 -14.4 1.2 Benign/Likely benign 1 -196120 Simple 190664941 G . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -196127 Simple 760733415 G . Uncertain significance 2 3 not specified;Dilated cardiomyopathy 3B 2016-06-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -196129 Simple 143037290 A . Benign/Likely benign 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;not provided 2017-08-17 -20.1 1.0 Benign/Likely benign 0 -196131 Simple 147298165 A . Likely benign 2 2 not specified 2016-04-15 -5.7 1.5 Likely benign 0 -196133 Simple 186080 A . Benign 2 3 not specified 2016-03-29 -16.8 1.6666666666666667 Benign/Likely benign 1 -196134 Simple 3214060 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -196135 Simple 534237033 T . Pathogenic 2 2 Trichohepatoenteric syndrome 1;not provided 2017-08-22 10.8 1.5 Pathogenic/Likely pathogenic 1 -196140 Simple 199903655 T . Benign 2 3 not specified;Adams-Oliver syndrome 5 2017-07-26 -17.4 1.0 Benign/Likely benign 1 -196142 Simple 56056823 T . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-06 -19.8 1.5 Benign/Likely benign 0 -196143 Simple 794727465 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-10-01 -0.54 2.0 Uncertain significance 0 -196144 Simple 749438439 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-08 -0.5700000000000001 1.5 Uncertain significance 0 -196145 Simple 794727466 T . Uncertain significance 2 2 not specified;not provided 2015-11-23 -0.51 2.5 Uncertain significance 0 -196146 Simple 184770223 A . Uncertain significance 2 2 Cone dystrophy 3;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -196150 Simple 72648235 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-09 -1.1400000000000001 1.25 Uncertain significance 0 -196152 Simple 748912340 - . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-25 -0.54 2.0 Uncertain significance 0 -196154 Simple 754676727 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-06-03 -0.48 3.0 Uncertain significance 0 -196155 Simple 373900294 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-02-15 -0.54 2.0 Uncertain significance 0 -196156 Simple 200875379 A . Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-08-22 -13.2 1.8 Benign/Likely benign 1 -196162 Simple 148659669 A . Benign/Likely benign 2 3 ATR-X syndrome;not specified 2017-07-21 -11.4 1.3333333333333333 Benign/Likely benign 0 -196167 Simple 201957008 C . Benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-03 -16.8 1.3333333333333333 Benign/Likely benign 1 -196173 Simple 555976716 A . Benign/Likely benign 2 6 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-07-24 -26.4 1.0 Benign 1 -196174 Simple 186577948 A . Benign/Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -196184 Simple 794727474 - . Benign 2 1 not specified 2016-03-31 . 1.0 . 0 -196189 Simple 117461489 G . Uncertain significance 2 2 not specified 2017-04-25 -0.6 0.5 Uncertain significance 0 -196195 Simple 139542862 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-27 -0.72 2.6666666666666665 Uncertain significance 0 -196196 Simple 200540781 T . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-06 -2.91 1.2 Uncertain significance 0 -196197 Simple 76543640 T . Benign/Likely benign 2 3 Deficiency of butyryl-CoA dehydrogenase;not specified 2016-06-14 -12.6 2.3333333333333335 Benign/Likely benign 0 -196200 Simple 797044701 - . Uncertain significance 2 2 not specified 2017-08-25 -0.5700000000000001 1.0 Uncertain significance 0 -196201 Simple 118168553 C . Benign/Likely benign 2 2 Hereditary fructosuria;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -196205 Simple 1801182 C . Benign 2 5 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2016-06-14 -27.0 2.0 Benign 0 -196206 Simple 143689469 G . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -196207 Simple 4782393 G . Benign 2 1 not specified 2015-05-12 . 2.0 . 0 -196208 Simple 201181935 C . Uncertain significance 2 2 Glaucoma, congenital;not specified 2016-03-18 -0.54 2.0 Uncertain significance 0 -196209 Simple 30832 C . Benign 2 8 Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;Achondrogenesis;Osteochondrodysplasia;not specified;Atelosteogenesis 2017-02-16 -46.2 1.375 Benign 0 -196213 Simple 4253027 C . Benign 2 4 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -196215 Simple 11546829 A . Benign 2 2 not specified;Hereditary Multiple Osteochondromatosis 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -196217 Simple 1047101 T . Benign/Likely benign 2 11 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;Craniosynostosis;FGFR2 related craniosynostosis 2016-12-26 -37.8 1.1818181818181819 Benign 1 -196218 Simple 1047102 T . Benign/Likely benign 2 12 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;Craniosynostosis;FGFR2 related craniosynostosis 2017-02-02 -41.4 1.0833333333333333 Benign 1 -196220 Simple 2305179 T . Benign 2 3 not specified;Craniosynostosis 2017-06-14 -17.4 1.0 Benign/Likely benign 1 -196222 Simple 145866792 A . Uncertain significance 2 3 Glycogen storage disease, type II;not specified 2017-06-27 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -196225 Simple 797044702 A . Pathogenic 2 2 Fabry disease;not provided 2017-04-21 11.4 1.0 Pathogenic/Likely pathogenic 1 -196227 Simple 3796130 A . Benign 2 2 Bernard Soulier syndrome;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -196231 Simple 753315599 T . Uncertain significance 2 2 not specified 2017-03-06 -0.54 1.5 Uncertain significance 0 -196235 Simple 577729544 A . Uncertain significance 2 2 Mucopolysaccharidosis type I;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -196236 Simple 3835070 - . Benign 2 2 not specified 2015-07-10 -10.8 2.0 Benign/Likely benign 1 -196241 Simple 146606638 A . Benign/Likely benign 2 3 Primary open angle glaucoma;not specified;Glaucoma 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -196242 Simple 133369 T . Benign 2 3 Kanzaki disease;Schindler disease, type 1;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -196244 Simple 111778723 - . Benign 2 5 Propionic acidemia;not specified 2016-11-10 -24.0 3.2 Benign 0 -196247 Simple 7551175 A . Benign 2 4 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2016-10-04 -22.8 1.5 Benign/Likely benign 1 -196249 Simple 142894102 C . Uncertain significance 2 2 not specified 2017-01-16 -0.54 2.0 Uncertain significance 0 -196251 Simple 794727481 A . Pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2016-07-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -196252 Simple 548233813 - . Benign/Likely benign 2 3 not specified;Retinitis Pigmentosa, Dominant 2016-07-19 -10.8 1.6666666666666667 Benign/Likely benign 0 -196255 Simple 200476861 A . Uncertain significance 2 4 Limb-girdle muscular dystrophy, type 2F;not specified 2017-07-05 -1.11 1.5 Uncertain significance 0 -196256 Simple 752548592 A . Uncertain significance 2 3 not specified;Dilated cardiomyopathy 2017-10-24 -0.81 1.6666666666666667 Uncertain significance 0 -196257 Simple 929651 A . Benign 2 3 Camptomelic dysplasia;not specified 2017-04-06 -16.8 1.3333333333333333 Benign/Likely benign 1 -196262 Simple 62269092 A . Benign/Likely benign 2 8 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;not provided;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-08-08 -25.8 1.0 Benign 1 -196263 Simple 794727482 A . Uncertain significance 2 2 not specified 2017-01-06 -0.54 2.0 Uncertain significance 0 -196278 Simple 6467 A . Benign 2 1 not specified 2014-09-23 . 3.0 . 0 -196286 Simple 193186112 T . Pathogenic 2 2 Glycogen storage disease type III 2017-07-07 11.4 1.0 Pathogenic/Likely pathogenic 1 -196291 Simple 17480245 G . Benign/Likely benign 2 5 Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1P;not specified 2017-06-16 -24.0 1.8 Benign 1 -196292 Simple 148434423 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -196294 Simple 9894059 G . Benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -196296 Simple 150466109 C . Benign 2 2 not specified;not provided 2016-06-15 -10.8 2.0 Benign/Likely benign 1 -196300 Simple 141631911 C . Benign/Likely benign 2 3 Roberts-SC phocomelia syndrome;not specified;not provided 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -196301 Simple 6921145 A . Benign 2 2 Cleidocranial dysostosis;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -196304 Simple 55859427 A . Benign/Likely benign 2 3 not specified;Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -196305 Simple 55797039 A . Benign/Likely benign 2 3 not specified;Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -196306 Simple 202230938 C . Benign 2 2 not specified 2016-04-07 -10.8 2.0 Benign/Likely benign 1 -196312 Simple 17843865 C . Benign/Likely benign 2 3 Symmetrical dyschromatosis of extremities;not specified;Aicardi-goutieres syndrome 6;not provided 2017-06-30 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -196322 Simple 235768 T . Benign 2 1 not specified 2015-01-21 . 3.0 . 0 -196327 Simple 34004222 A . Likely benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -196328 Simple 9521650 A . Benign 2 5 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -28.8 1.2 Benign 0 -196329 Simple 138646508 T . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2016-08-15 -15.0 1.0 Benign/Likely benign 0 -196330 Simple 142328765 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-10-12 -20.4 0.8 Benign/Likely benign 0 -196331 Simple 138312213 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-05-30 -14.4 1.25 Benign/Likely benign 0 -196343 Simple 2241493 T . Benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -196345 Simple 74010762 G . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -196349 Simple 3134046 G . Benign 2 2 Hyperphosphatasemia with bone disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -196351 Simple 145568490 C . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -196360 Simple 77782321 A . Benign/Likely benign 2 2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -196362 Simple 78691203 A . Benign 2 3 Familial juvenile gout;Medullary cystic kidney disease 2;not specified;Uromodulin-associated kidney disease 2017-05-23 -16.8 1.3333333333333333 Benign/Likely benign 1 -196363 Simple 187555378 C . Benign 2 2 not specified;Uromodulin-associated kidney disease 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -196365 Simple 794727498 - . Benign/Likely benign 2 2 not specified;not provided 2017-03-10 -7.8 1.5 Likely benign 1 -196368 Simple 112028242 A . Benign/Likely benign 2 4 Holoprosencephaly sequence;not specified;Holoprosencephaly 2017-06-17 -19.8 1.0 Benign/Likely benign 0 -196370 Simple 151147114 G . Benign/Likely benign 2 3 Holoprosencephaly sequence;not specified;Holoprosencephaly 2017-04-12 -13.8 1.3333333333333333 Benign/Likely benign 0 -196371 Simple 775006915 - . Benign/Likely benign 2 4 Congenital central hypoventilation;not specified;Hereditary cancer-predisposing syndrome 2017-11-14 -14.4 0.75 Benign/Likely benign 0 -196379 Simple 150048651 A . Uncertain significance 2 3 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Cardiovascular phenotype 2017-03-29 -0.81 1.6666666666666667 Uncertain significance 0 -196380 Simple 779126378 T . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -196384 Simple 145765079 A . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-06-05 -11.4 1.0 Benign/Likely benign 0 -196387 Simple 748164001 A . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-05-24 -0.6 0.5 Uncertain significance 0 -196389 Simple 756586058 GG . Pathogenic/Likely pathogenic 2 2 Aarskog syndrome 2017-06-01 7.8 1.5 Likely pathogenic 1 -196392 Simple 374692105 T . Uncertain significance 2 2 not specified 2016-01-22 -0.51 2.5 Uncertain significance 0 -196395 Simple 760576804 T . Pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided 2017-03-02 16.8 1.6666666666666667 Pathogenic 0 -196398 Simple 2498417 C . Benign 2 1 not specified 2015-01-29 . 3.0 . 0 -196404 Simple 2281983 A . Benign 2 1 not specified 2014-08-25 . 3.0 . 0 -196406 Simple 794727502 C . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5;not specified 2017-07-31 -0.54 1.5 Uncertain significance 0 -196411 Simple 7047950 A . Benign 2 6 Inclusion body myopathy 2;Nonaka myopathy;Sialuria;not specified;Inclusion Body Myopathy, Recessive 2017-08-02 -36.0 0.8333333333333334 Benign 0 -196415 Simple 115201284 T . Benign/Likely benign 2 4 Endplate acetylcholinesterase deficiency;not specified;Congenital Myasthenic Syndrome, Recessive 2017-06-06 -20.4 1.0 Benign/Likely benign 0 -196419 Simple 794727506 C . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.54 2.0 Uncertain significance 0 -196432 Simple 143790367 A . Uncertain significance 2 2 not specified;Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -196434 Simple 1800197 T . Benign/Likely benign 2 3 not specified;Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -196436 Simple 75670228 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -196438 Simple 794727507 C . Uncertain significance 2 2 not specified 2017-01-27 -0.54 2.0 Uncertain significance 0 -196442 Simple 371123633 C . Uncertain significance 2 4 not specified;Hidrotic ectodermal dysplasia;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.14 1.5 Uncertain significance 0 -196444 Simple 1805147 T . Benign/Likely benign 2 3 Retinitis pigmentosa 15;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -196447 Simple 182192729 T . Benign 2 3 Holoprosencephaly 5;not specified 2017-06-16 -17.4 1.0 Benign/Likely benign 1 -196450 Simple 148086540 TTTT . Benign/Likely benign 2 3 not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -196456 Simple 11555797 A . Benign/Likely benign 2 3 Schimke immunoosseous dysplasia;not specified 2017-08-21 -13.8 1.3333333333333333 Benign/Likely benign 0 -196464 Simple 181630986 T . Uncertain significance 2 4 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -1.17 1.25 Uncertain significance 0 -196471 Simple 201065230 G . Uncertain significance 2 2 not specified 2017-04-24 -0.6 0.5 Uncertain significance 0 -196475 Simple 148345688 G . Uncertain significance 2 2 not specified 2016-08-25 -0.54 2.0 Uncertain significance 0 -196481 Simple 104894483 G . Benign/Likely benign 2 4 Neuronal ceroid lipofuscinosis;not specified 2017-06-02 -14.7 0.75 Benign/Likely benign 0 -196484 Simple 3804506 G . Benign/Likely benign 2 4 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified;not provided 2017-08-14 -19.2 1.5 Benign/Likely benign 0 -196485 Simple 147055570 A . Uncertain significance 2 2 not specified 2016-07-08 -0.54 2.0 Uncertain significance 0 -196486 Simple 150684410 A . Uncertain significance 2 2 not specified 2016-07-08 -0.54 2.0 Uncertain significance 0 -196492 Simple 6133917 C . Benign 2 1 not specified 2015-04-06 . 2.0 . 0 -196494 Simple 2234255 A . Benign/Likely benign 2 3 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;not specified;not provided 2017-06-16 -11.4 1.0 Benign/Likely benign 0 -196501 Simple 201088893 T . Uncertain significance 2 2 Jeune thoracic dystrophy;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -196503 Simple 56008253 A . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-19 -16.8 1.5 Benign/Likely benign 0 -196511 Simple 140382957 A . Benign/Likely benign 2 9 Hypogonadism with anosmia;Kallmann syndrome 2;Pfeiffer syndrome;Osteoglophonic dysplasia;not specified;Craniosynostosis;Nonsyndromic Trigonocephaly 2017-02-28 -34.8 1.2222222222222223 Benign 1 -196512 Simple 148480919 A . Benign/Likely benign 2 2 not specified 2015-09-23 -7.5 2.5 Likely benign 1 -196513 Simple 2915665 A . Benign/Likely benign 2 7 Hypogonadism with anosmia;Kallmann syndrome 2;Pfeiffer syndrome;Osteoglophonic dysplasia;not specified;Craniosynostosis;Nonsyndromic Trigonocephaly 2016-06-24 -25.8 1.2857142857142858 Benign 1 -196514 Simple 201506921 A . Benign/Likely benign 2 2 not specified 2017-03-23 -7.8 1.5 Likely benign 1 -196520 Simple 35570782 T . Benign 2 2 Chromosome 9q deletion syndrome;not specified 2017-08-14 -10.8 1.5 Benign/Likely benign 1 -196527 Simple 113987077 T . Benign 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-08-14 -16.8 1.3333333333333333 Benign/Likely benign 1 -196528 Simple 143188189 T . Benign/Likely benign 2 3 Basal ganglia disease, biotin-responsive;not specified 2017-06-30 -13.2 2.0 Benign/Likely benign 0 -196558 Simple 794727527 - . Benign 2 2 not specified;not provided 2017-10-03 -10.8 1.5 Benign/Likely benign 1 -196559 Simple 371983878 - . Benign 2 3 not specified 2015-10-30 -15.0 2.6666666666666665 Benign/Likely benign 1 -196561 Simple 372897338 G . Uncertain significance 2 2 Retinal degeneration;not specified;Retinal degeneration 2016-06-14 -0.54 2.0 Uncertain significance 0 -196562 Simple 139436396 C . Benign/Likely benign 2 2 Retinal degeneration;not specified;Retinal degeneration 2016-06-14 -7.8 2.0 Likely benign 1 -196566 Simple 142717432 C . Uncertain significance 2 2 not specified 2014-10-23 -0.44999999999999996 3.5 Uncertain significance 0 -196576 Simple 35554630 A . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.5700000000000001 1.5 Uncertain significance 0 -196580 Simple 11555738 C . Benign 2 2 not specified 2016-03-03 -10.8 2.0 Benign/Likely benign 1 -196581 Simple 72687988 G . Likely benign 2 1 not specified 2015-05-04 . 2.0 . 0 -196598 Simple 147497359 A . Benign/Likely benign 2 3 Nance-Horan syndrome;not specified 2017-02-28 -11.4 1.6666666666666667 Benign/Likely benign 0 -196600 Simple 150880478 G . Benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-15 -10.8 1.5 Benign/Likely benign 1 -196607 Simple 66592376 T . Benign/Likely benign 2 5 Osteogenesis imperfecta type I;not specified;not provided 2017-08-31 -23.4 0.4 Benign/Likely benign 0 -196616 Simple 35395170 - . Benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -196617 Simple 193159707 G . Benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-07 -11.4 1.0 Benign/Likely benign 1 -196620 Simple 3737821 T . Benign/Likely benign 2 4 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-10 -16.8 1.5 Benign/Likely benign 0 -196621 Simple 144651070 - . Benign 2 1 not specified 2015-02-04 . 3.0 . 0 -196624 Simple 201477760 T . Benign/Likely benign 2 2 Dysferlinopathy;not specified 2017-04-27 -8.7 1.0 Benign/Likely benign 0 -196635 Simple 150877886 A . Benign/Likely benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;not provided;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-11-15 -26.1 1.25 Benign 1 -196637 Simple 140882884 AA . Benign/Likely benign 2 2 Marles Greenberg Persaud syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -196653 Simple 794727542 T . Uncertain significance 2 2 not specified 2015-02-13 -0.48 3.0 Uncertain significance 0 -196655 Simple 774131659 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-08 -0.54 1.5 Uncertain significance 0 -196662 Simple 371776565 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-15 -0.54 1.5 Uncertain significance 0 -196663 Simple 2229448 A . Benign 2 1 not specified 2015-02-26 . 3.0 . 0 -196665 Simple 551649729 A . Uncertain significance 2 2 von Willebrand disorder;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -196678 Simple 765194008 T . Benign/Likely benign 2 2 not specified 2015-05-06 -7.800000000000001 2.5 Likely benign 1 -196682 Simple 2037089 C . Benign 2 2 not specified 2016-03-28 -10.8 2.0 Benign/Likely benign 1 -196690 Simple 201581582 A . Benign/Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -7.8 2.0 Likely benign 1 -196713 Simple 201982308 A . Uncertain significance 2 2 not specified 2017-05-31 -0.54 1.5 Uncertain significance 0 -196717 Simple 2857824 A . Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy 2017-09-12 -11.7 0.5 Benign/Likely benign 1 -196720 Simple 782581787 T . Uncertain significance 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-24 -0.87 0.6666666666666666 Uncertain significance 0 -196728 Simple 149964491 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-04-24 -13.8 1.3333333333333333 Benign/Likely benign 0 -196733 Simple 540421549 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-25 -0.54 1.5 Uncertain significance 0 -196734 Simple 115735672 A . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-11-09 -16.8 0.75 Benign/Likely benign 0 -196736 Simple 574482100 T . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.5700000000000001 1.0 Uncertain significance 0 -196737 Simple 781802082 A . Uncertain significance 2 2 not specified 2015-01-09 -0.48 3.0 Uncertain significance 0 -196741 Simple 201959200 A . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-10-12 -17.4 1.3333333333333333 Benign/Likely benign 1 -196742 Simple 377619355 T . Benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -10.8 1.5 Benign/Likely benign 1 -196743 Simple 577374823 T . Uncertain significance 2 2 not specified 2016-06-01 -0.5700000000000001 1.5 Uncertain significance 0 -196748 Simple 370569372 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -0.6 0.5 Uncertain significance 0 -196751 Simple 371673069 A . Uncertain significance 2 2 not specified 2017-04-04 -0.54 1.5 Uncertain significance 0 -196752 Simple 117962829 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-10-04 -0.5700000000000001 1.5 Uncertain significance 0 -196761 Simple 202190540 G . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-27 -11.4 1.0 Benign/Likely benign 0 -196762 Simple 782666455 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-04-29 -0.54 2.0 Uncertain significance 0 -196767 Simple 782439290 A . Uncertain significance 2 2 not specified 2017-05-02 -0.5700000000000001 1.0 Uncertain significance 0 -196774 Simple 200233856 T . Uncertain significance 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-29 -0.54 1.5 Uncertain significance 0 -196776 Simple 138976133 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-02 -14.7 0.75 Benign/Likely benign 0 -196779 Simple 141548164 T . Benign/Likely benign 2 5 Marshall syndrome;Fibrochondrogenesis;not specified;not provided;Stickler Syndrome, Dominant 2017-04-20 -19.8 1.2 Benign/Likely benign 0 -196788 Simple 147318592 A . Benign/Likely benign 2 5 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-07-07 -17.7 1.0 Benign/Likely benign 0 -196789 Simple 61743849 C . Uncertain significance 2 2 not specified 2016-07-22 -0.54 2.0 Uncertain significance 0 -196790 Simple 373474658 G . Uncertain significance 2 2 not specified 2016-12-29 -0.54 2.0 Uncertain significance 0 -196802 Simple 2499481 G . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-03-29 -10.8 2.0 Benign/Likely benign 1 -196803 Simple 140791735 T . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-05-24 -10.8 1.5 Benign/Likely benign 1 -196805 Simple 142465959 C . Benign/Likely benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-08-21 -8.7 1.5 Benign/Likely benign 0 -196812 Simple 78461695 A . Benign/Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-09 -20.4 1.0 Benign/Likely benign 0 -196813 Simple 202010719 T . Uncertain significance 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-12-21 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -196819 Simple 200541837 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-07-18 -0.54 2.0 Uncertain significance 0 -196828 Simple 77146441 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-04 -0.6 0.5 Uncertain significance 0 -196829 Simple 538589589 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-01-07 -0.5700000000000001 1.5 Uncertain significance 0 -196841 Simple 201041716 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -196842 Simple 782075235 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-09-15 -0.54 2.0 Uncertain significance 0 -196844 Simple 201030020 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-07-25 -0.54 2.0 Uncertain significance 0 -196853 Simple 200361523 T . Uncertain significance 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-20 -0.87 0.6666666666666666 Uncertain significance 0 -196858 Simple 199995144 T . Uncertain significance 2 2 not specified 2017-05-16 -0.5700000000000001 1.0 Uncertain significance 0 -196867 Simple 149121159 C . Uncertain significance 2 2 not specified 2015-12-28 -0.51 2.5 Uncertain significance 0 -196868 Simple 141456140 A . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.54 2.0 Uncertain significance 0 -196880 Simple 151344624 - . Pathogenic 2 3 Persistent hyperinsulinemic hypoglycemia of infancy;not provided 2015-10-21 15.600000000000001 2.3333333333333335 Pathogenic 0 -196888 Simple 181067717 T . Benign/Likely benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-31 -16.2 1.6666666666666667 Benign/Likely benign 0 -196889 Simple 371835359 T . Uncertain significance 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -196890 Simple 192467838 T . Uncertain significance 2 3 not specified;not provided 2016-11-22 -0.87 1.3333333333333333 Uncertain significance 0 -196895 Simple 146970014 T . Uncertain significance 2 3 not specified 2017-03-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -196901 Simple 362800 C . Uncertain significance 2 3 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-04-22 -0.84 1.3333333333333333 Uncertain significance 0 -196909 Simple 142948420 C . Benign/Likely benign 2 2 Floating-Harbor syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -196914 Simple 61751490 G . Benign 2 3 not specified;Adams-Oliver syndrome 5 2017-07-19 -17.4 1.0 Benign/Likely benign 1 -196915 Simple 61746518 A . Benign/Likely benign 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-06-23 -19.8 1.2 Benign/Likely benign 0 -196916 Simple 201032343 T . Uncertain significance 2 2 not specified 2017-03-13 -0.54 1.5 Uncertain significance 0 -196917 Simple 150272676 A . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -196918 Simple 117148013 T . Uncertain significance 2 3 Cohen syndrome;not specified 2017-05-23 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -196919 Simple 755227174 A . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -196928 Simple 1872267 T . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -196935 Simple 201251963 G . Uncertain significance 2 2 not specified 2017-05-15 -0.5700000000000001 1.0 Uncertain significance 0 -196936 Simple 35860166 G . Benign/Likely benign 2 2 not specified 2017-10-17 -8.4 1.0 Benign/Likely benign 0 -196937 Simple 370971334 A . Uncertain significance 2 2 not specified 2016-08-22 -0.54 2.0 Uncertain significance 0 -196938 Simple 797044723 - . Pathogenic/Likely pathogenic 2 2 ATR-X syndrome;not provided 2016-06-27 8.4 2.0 Pathogenic/Likely pathogenic 0 -196948 Simple 147882179 T . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -196951 Simple 794727581 G . Uncertain significance 2 2 not specified 2017-06-30 -0.54 1.5 Uncertain significance 0 -196953 Simple 149534094 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-02 -20.4 1.0 Benign/Likely benign 0 -196955 Simple 148688181 A . Likely benign 2 3 not specified;Kabuki syndrome 2016-06-14 -8.4 1.6666666666666667 Benign/Likely benign 1 -196962 Simple 61741336 A . Benign/Likely benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -196967 Simple 766750384 C . Uncertain significance 2 2 not specified 2016-01-07 -0.51 2.5 Uncertain significance 0 -196974 Simple 150966847 T . Uncertain significance 2 2 Congenital hyperammonemia, type I;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -196980 Simple 794727591 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -196985 Simple 142248228 G . Uncertain significance 2 3 Cohen syndrome;not specified 2017-05-23 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -196989 Simple 150838488 A . Uncertain significance 2 3 Autosomal recessive polycystic kidney disease;not specified 2017-09-12 -0.87 1.0 Uncertain significance 0 -196993 Simple 794727594 - . Pathogenic 2 3 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy;not provided 2017-01-10 16.8 1.6666666666666667 Pathogenic 0 -196998 Simple 142647321 C . Benign/Likely benign 2 6 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-08-07 -26.4 0.8333333333333334 Benign 1 -197000 Simple 118124743 C . Benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-02 -16.8 1.3333333333333333 Benign/Likely benign 1 -197004 Simple 147950418 G . Uncertain significance 2 2 not specified 2017-03-02 -0.5700000000000001 1.5 Uncertain significance 0 -197007 Simple 148794372 A . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -197020 Simple 200599637 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -197021 Simple 3850625 A . Benign 2 4 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -197023 Simple 115123584 C . Likely benign 2 2 not specified;not provided 2016-07-22 -5.7 1.5 Likely benign 0 -197029 Simple 376992044 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-12 -8.7 1.0 Benign/Likely benign 0 -197032 Simple 35911211 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -16.8 1.0 Benign/Likely benign 0 -197042 Simple 202039728 G . Uncertain significance 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-06-09 -1.47 1.0 Uncertain significance 0 -197044 Simple 370119681 A . Pathogenic 2 2 Joubert syndrome 5;not provided 2017-03-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -197049 Simple 147487242 A . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified 2016-12-05 -13.8 1.6666666666666667 Benign/Likely benign 0 -197051 Simple 33912216 A . Benign/Likely benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -197052 Simple 35374168 C . Likely benign 2 3 not specified;not provided 2017-06-26 -8.7 1.0 Benign/Likely benign 1 -197057 Simple 151313865 T . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-09 -25.8 1.0 Benign 1 -197064 Simple 113618587 T . Benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-02 -16.8 1.3333333333333333 Benign/Likely benign 1 -197069 Simple 112948385 A . Uncertain significance 2 6 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2017-01-24 -1.74 1.3333333333333333 Uncertain significance 0 -197079 Simple 111494366 - . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-27 -13.8 1.3333333333333333 Benign/Likely benign 0 -197083 Simple 2170899 G . Benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -197084 Simple 373307908 A . Uncertain significance 2 7 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified;not provided 2016-06-14 -2.01 1.4285714285714286 Uncertain significance 0 -197086 Simple 150702500 T . Uncertain significance 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-11-26 -1.17 1.25 Uncertain significance 0 -197092 Simple 2239686 A . Benign/Likely benign 2 4 Deficiency of butyryl-CoA dehydrogenase;not specified 2017-07-14 -19.8 1.25 Benign/Likely benign 0 -197094 Simple 186669379 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2D;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -197097 Simple 61741025 T . Benign/Likely benign 2 2 not specified;not provided 2017-08-28 -8.4 1.0 Benign/Likely benign 0 -197104 Simple 2229292 T . Benign/Likely benign 2 3 Carnitine palmitoyltransferase II deficiency;not specified 2017-07-31 -13.8 1.3333333333333333 Benign/Likely benign 0 -197110 Simple 775277935 - . Pathogenic 2 2 Galactosylceramide beta-galactosidase deficiency;not provided 2016-06-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -197114 Simple 63749980 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -1.17 1.0 Uncertain significance 0 -197115 Simple 767404845 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-12-03 -0.48 3.0 Uncertain significance 0 -197116 Simple 55916957 T . Benign 2 1 not specified 2015-02-25 . 3.0 . 0 -197118 Simple 138836357 T . Uncertain significance 2 2 not specified;not provided 2016-09-30 -0.54 2.0 Uncertain significance 0 -197124 Simple 61733139 C . Benign/Likely benign 2 2 not specified;Abetalipoproteinemia 2016-06-14 -7.8 2.0 Likely benign 1 -197133 Simple 77384282 T . Benign/Likely benign 2 4 Newfoundland rod-cone dystrophy;not specified;Fundus albipunctatus;Retinitis Pigmentosa, Recessive 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -197134 Simple 778661227 T . Uncertain significance 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-06-14 -1.74 1.3333333333333333 Uncertain significance 0 -197144 Simple 372685632 T . Uncertain significance 2 3 not specified;ABCB4-Related Intrahepatic Cholestasis 2017-06-28 -0.87 1.0 Uncertain significance 0 -197145 Simple 121912441 C . Pathogenic 2 4 Amyotrophic lateral sclerosis type 1;Motor neuron disease;not provided 2017-10-24 21.6 1.75 Pathogenic 0 -197147 Simple 139698110 C . Uncertain significance 2 4 Lucey-Driscoll syndrome;Gilbert's syndrome;Crigler-Najjar syndrome;not specified 2016-06-14 -1.14 1.5 Uncertain significance 0 -197149 Simple 794727625 T . Pathogenic/Likely pathogenic 2 2 Mucopolysaccharidosis, MPS-IV-A;Morquio syndrome 2016-06-14 7.8 2.0 Likely pathogenic 1 -197151 Simple 5388 T . Benign/Likely benign 2 2 not specified;not provided 2017-01-06 -8.4 1.5 Benign/Likely benign 0 -197152 Simple 373958758 T . Uncertain significance 2 2 not specified 2017-10-03 -0.54 1.5 Uncertain significance 0 -197163 Simple 2820581 T . Benign 2 1 not specified 2014-07-17 . 3.0 . 0 -197166 Simple 373041067 A . Uncertain significance 2 2 Deficiency of aromatic-L-amino-acid decarboxylase;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -197167 Simple 143815396 T . Uncertain significance 2 2 not specified 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -197169 Simple 547740249 A . Uncertain significance 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -197170 Simple 568763662 T . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -197173 Simple 138630905 A . Uncertain significance 2 2 not specified 2017-02-02 -0.54 2.0 Uncertain significance 0 -197174 Simple 1042454 T . Benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -197187 Simple 794726827 T . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;not provided 2017-06-07 16.8 1.3333333333333333 Pathogenic 0 -197190 Simple 17563 G . Benign/Likely benign 2 5 Orofacial cleft;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant;BMP4-Related Syndromic Microphthalmia;Syndromic Microphthalmia, Dominant 2016-06-14 -16.8 1.4 Benign/Likely benign 0 -197192 Simple 371263215 C . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -197195 Simple 794727634 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-04-12 -0.54 1.5 Uncertain significance 0 -197197 Simple 3135932 G . Benign/Likely benign 2 2 not specified;Inflammatory bowel disease 2016-06-14 -7.8 2.0 Likely benign 1 -197199 Simple 61756326 T . Benign 2 1 not specified 2015-05-08 . 2.0 . 0 -197210 Simple 751000085 A . Pathogenic 2 3 Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes 2017-07-11 16.8 1.3333333333333333 Pathogenic 0 -197214 Simple 200868061 A . Benign/Likely benign 2 2 Robinow syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -197219 Simple 183406496 T . Uncertain significance 2 2 not specified;not provided 2016-08-02 -0.5700000000000001 1.5 Uncertain significance 0 -197221 Simple 35003467 T . Benign/Likely benign 2 1 not specified 2015-02-11 . 3.0 . 0 -197225 Simple 17166384 G . Benign/Likely benign 2 3 Myoclonic dystonia;not specified 2017-08-14 -16.8 1.3333333333333333 Benign/Likely benign 0 -197230 Simple 141553918 A . Uncertain significance 2 2 Achondrogenesis;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -197231 Simple 200516441 A . Benign 2 2 Baller-Gerold syndrome;not specified 2016-03-17 -10.8 2.0 Benign/Likely benign 1 -197233 Simple 374267444 T . Uncertain significance 2 2 not specified 2017-06-15 -0.54 1.5 Uncertain significance 0 -197235 Simple 141609058 T . Benign/Likely benign 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -197242 Simple 56239539 T . Uncertain significance 2 2 not specified 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -197249 Simple 34729771 - . Benign 2 3 Pena-Shokeir syndrome type I;not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -197258 Simple 200750233 C . Uncertain significance 2 2 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 2017-07-10 -0.5700000000000001 1.0 Uncertain significance 0 -197264 Simple 3808974 G . Benign 2 3 not specified;Osteopetrosis 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -197265 Simple 3808973 T . Benign/Likely benign 2 2 not specified;Osteopetrosis 2016-06-14 -7.8 2.0 Likely benign 1 -197268 Simple 140524715 G . Uncertain significance 2 3 Achromatopsia;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -197272 Simple 1064797345 AA . Pathogenic/Likely pathogenic 2 2 Retinitis pigmentosa 1;not provided 2017-01-31 7.8 2.0 Likely pathogenic 1 -197273 Simple 148918111 G . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.54 2.0 Uncertain significance 0 -197274 Simple 147384119 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.54 2.0 Uncertain significance 0 -197276 Simple 368859958 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -197278 Simple 151283029 A . Likely benign 2 2 not specified 2016-10-05 -5.7 1.5 Likely benign 0 -197286 Simple 139413431 - . Benign/Likely benign 2 3 not specified;Polycystic liver disease 2016-06-14 -14.4 1.6666666666666667 Benign/Likely benign 0 -197292 Simple 3750025 A . Benign 2 1 not specified 2015-01-27 . 3.0 . 0 -197301 Simple 2384916 C . Benign 2 2 not specified 2016-02-24 -10.2 2.5 Benign/Likely benign 1 -197302 Simple 2384917 C . Benign 2 3 not specified;Spastic Paraplegia, Dominant 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -197310 Simple 61751557 A . Benign 2 4 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-31 -22.2 1.5 Benign/Likely benign 1 -197314 Simple 146969255 T . Uncertain significance 2 3 not specified;Hyperphosphatasia with Intellectual Disability Syndrome 2016-10-05 -0.84 1.6666666666666667 Uncertain significance 0 -197315 Simple 202226970 A . Uncertain significance 2 3 Neuronal ceroid lipofuscinosis;not specified 2016-06-16 -0.75 2.6666666666666665 Uncertain significance 0 -197316 Simple 138232280 A . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -197319 Simple 143260721 G . Uncertain significance 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -1.1099999999999999 1.75 Uncertain significance 0 -197321 Simple 779117472 T . Uncertain significance 2 2 Temporal epilepsy, familial;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -197325 Simple 144727288 C . Benign 2 2 not specified 2016-08-22 -11.4 1.5 Benign/Likely benign 1 -197331 Simple 373190423 T . Uncertain significance 2 2 Amish lethal microcephaly;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -197340 Simple 370099812 A . Benign/Likely benign 2 4 not specified;Walker-Warburg congenital muscular dystrophy 2017-06-14 -17.4 0.75 Benign/Likely benign 0 -197342 Simple 759875552 A . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-08-02 -0.54 1.5 Uncertain significance 0 -197350 Simple 145894568 G . Benign/Likely benign 2 3 not specified;Walker-Warburg congenital muscular dystrophy 2017-10-26 -11.7 0.6666666666666666 Benign/Likely benign 0 -197353 Simple 144871446 A . Likely benign 2 3 Chromosome 9q deletion syndrome;not specified 2017-06-16 -8.4 1.3333333333333333 Benign/Likely benign 1 -197355 Simple 370345916 C . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -197357 Simple 4639950 C . Benign/Likely benign 2 2 Retinal degeneration;not specified;Retinal degeneration 2016-06-14 -7.8 2.0 Likely benign 1 -197359 Simple 78810429 T . Benign 2 2 Leukocyte adhesion deficiency, type III;not specified 2017-07-24 -10.8 1.5 Benign/Likely benign 1 -197361 Simple 146573578 A . Uncertain significance 2 2 not specified 2016-12-09 -0.54 2.0 Uncertain significance 0 -197367 Simple 141790557 C . Uncertain significance 2 3 Autosomal recessive polycystic kidney disease;not specified 2017-01-11 -0.84 1.6666666666666667 Uncertain significance 0 -197379 Simple 144540943 C . Uncertain significance 2 4 Dystonia 10;not specified 2017-07-27 -1.02 2.25 Uncertain significance 0 -197382 Simple 150284356 G . Benign/Likely benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -197384 Simple 146729456 G . Likely benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -8.4 1.6666666666666667 Benign/Likely benign 1 -197386 Simple 199934621 T . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -197388 Simple 4921834 T . Benign 2 3 Farber's lipogranulomatosis;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -197389 Simple 1049874 C . Benign 2 3 Farber's lipogranulomatosis;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -197394 Simple 794727660 - . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -197395 Simple 184650144 G . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -197396 Simple 35997283 G . Likely benign 2 2 not specified;not provided 2017-06-15 -5.4 1.5 Likely benign 0 -197397 Simple 764205 T . Benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -197398 Simple 76587489 A . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -197402 Simple 201725369 T . Pathogenic/Likely pathogenic 2 7 Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided 2017-08-30 26.4 1.8571428571428572 Pathogenic 1 -197405 Simple 748080151 T . Uncertain significance 2 2 not specified 2015-02-20 -0.48 3.0 Uncertain significance 0 -197406 Simple 370432385 A . Uncertain significance 2 4 Timothy syndrome;Long QT syndrome;not specified 2017-04-27 -1.14 1.0 Uncertain significance 0 -197408 Simple 199802825 T . Benign/Likely benign 2 2 not specified 2015-07-21 -7.800000000000001 2.5 Likely benign 1 -197412 Simple 794727661 - . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-08-14 20.4 2.25 Pathogenic 0 -197414 Simple 145266970 A . Likely benign 2 2 not specified 2017-11-03 -5.4 1.5 Likely benign 0 -197415 Simple 112382351 T . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-02 -13.8 1.3333333333333333 Benign/Likely benign 0 -197420 Simple 34161789 T . Benign/Likely benign 2 3 Inclusion body myopathy 3;not specified;not provided 2017-07-17 -13.8 1.3333333333333333 Benign/Likely benign 0 -197433 Simple 766016391 A . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy 2017-07-03 20.4 2.25 Pathogenic 0 -197442 Simple 142598024 T . Uncertain significance 2 2 not specified 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -197443 Simple 147427344 A . Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -5.4 2.0 Likely benign 0 -197444 Simple 150771329 C . Benign 2 2 Cohen syndrome;not specified 2017-07-12 -10.8 1.5 Benign/Likely benign 1 -197445 Simple 149146258 T . Likely benign 2 6 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-09-08 -17.7 0.8333333333333334 Benign/Likely benign 1 -197446 Simple 794727668 - . Benign 2 2 not specified 2014-11-14 -8.4 4.0 Benign/Likely benign 1 -197452 Simple 151027388 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 7A;not specified 2017-10-17 -11.4 1.0 Benign/Likely benign 0 -197456 Simple 35504565 C . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -197458 Simple 117846737 G . Uncertain significance 2 4 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -1.17 1.25 Uncertain significance 0 -197460 Simple 781878646 C . Uncertain significance 2 2 not specified 2015-05-19 -0.51 2.5 Uncertain significance 0 -197461 Simple 201672146 A . Benign/Likely benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-06-28 -13.8 1.3333333333333333 Benign/Likely benign 0 -197466 Simple 146877597 T . Uncertain significance 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-07-12 -1.17 1.0 Uncertain significance 0 -197470 Simple 369391284 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -197472 Simple 145208175 T . Uncertain significance 2 5 Cohen syndrome;not specified 2017-06-16 -1.38 1.4 Uncertain significance 0 -197474 Simple 146093235 A . Benign/Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -25.8 1.2857142857142858 Benign 1 -197475 Simple 142526715 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not provided 2015-05-15 -0.51 2.5 Uncertain significance 0 -197485 Simple 114686696 A . Likely benign 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-06-11 -5.7 1.0 Likely benign 0 -197491 Simple 200930743 G . Uncertain significance 2 2 not specified 2015-06-19 -0.51 2.5 Uncertain significance 0 -197493 Simple 200412477 G . Benign/Likely benign 2 3 not specified 2016-03-03 -12.9 2.3333333333333335 Benign/Likely benign 0 -197496 Simple 1800217 G . Benign 2 2 Osteogenesis imperfecta type I;not specified 2017-08-01 -10.8 1.5 Benign/Likely benign 1 -197499 Simple 201168500 T . Benign/Likely benign 2 2 not specified 2017-05-17 -8.4 1.0 Benign/Likely benign 0 -197500 Simple 563382903 T . Uncertain significance 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -0.54 2.0 Uncertain significance 0 -197503 Simple 748459670 A . Pathogenic 2 2 Stickler syndrome type 1;not provided 2017-10-03 11.4 1.0 Pathogenic/Likely pathogenic 1 -197504 Simple 146384562 C . Benign/Likely benign 2 2 Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy;not specified 2017-03-02 -10.8 2.0 Benign/Likely benign 0 -197507 Simple 34646696 - . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -197508 Simple 794727675 G . Likely benign 2 2 not specified 2016-03-22 -5.4 2.0 Likely benign 0 -197510 Simple 372347027 C . Likely pathogenic 2 3 Usher syndrome, type 2A;Retinitis pigmentosa 39;not provided 2017-02-21 8.4 1.6666666666666667 Pathogenic/Likely pathogenic 1 -197516 Simple 35732567 A . Benign 2 1 not specified 2016-03-16 . 1.0 . 0 -197517 Simple 564040169 A . Uncertain significance 2 2 not specified 2016-01-14 -0.51 2.5 Uncertain significance 0 -197518 Simple 200195310 A . Benign/Likely benign 2 2 not specified 2017-05-17 -8.4 1.0 Benign/Likely benign 0 -197519 Simple 150857429 A . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -197520 Simple 3742207 G . Benign 2 5 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -28.8 1.2 Benign 0 -197522 Simple 149322279 A . Benign/Likely benign 2 5 Duchenne muscular dystrophy;not specified 2017-05-02 -23.4 0.8 Benign/Likely benign 0 -197527 Simple 113591604 A . Uncertain significance 2 2 not specified 2016-08-31 -0.5700000000000001 1.5 Uncertain significance 0 -197531 Simple 143626904 C . Likely benign 2 1 not specified 2014-09-15 . 3.0 . 0 -197536 Simple 200842904 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-03-31 -14.4 1.0 Benign/Likely benign 0 -197537 Simple 373288848 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-10 -0.54 1.5 Uncertain significance 0 -197538 Simple 549476254 G . Uncertain significance 2 2 Long QT syndrome;not specified 2016-02-06 -0.51 2.5 Uncertain significance 0 -197541 Simple 149460805 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-05-16 -10.8 1.5 Benign/Likely benign 0 -197542 Simple 76337075 A . Benign 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-21 -21.6 1.75 Benign/Likely benign 1 -197543 Simple 140210015 A . Likely benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -197547 Simple 2229474 A . Benign/Likely benign 2 4 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -16.2 1.75 Benign/Likely benign 0 -197549 Simple 2290498 T . Benign 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -197552 Simple 753752 T . Benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -197555 Simple 147851214 A . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -197557 Simple 41316721 T . Benign 2 3 Osteogenesis imperfecta type I;not specified 2017-08-07 -16.8 1.3333333333333333 Benign/Likely benign 1 -197558 Simple 78880369 C . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-01-26 -0.54 2.0 Uncertain significance 0 -197560 Simple 200588235 G . Uncertain significance 2 3 Timothy syndrome;Brugada syndrome;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -197575 Simple 138004884 G . Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-28 -11.7 1.0 Benign/Likely benign 1 -197577 Simple 375680312 T . Uncertain significance 2 2 not specified 2016-06-21 -0.51 2.5 Uncertain significance 0 -197578 Simple 375177753 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -0.87 0.6666666666666666 Uncertain significance 0 -197599 Simple 200528472 G . Benign/Likely benign 2 2 not specified 2016-10-19 -7.8 2.0 Likely benign 1 -197606 Simple 200909650 G . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -197619 Simple 199761158 G . Benign/Likely benign 2 3 Adenylosuccinate lyase deficiency;not specified 2017-06-23 -12.0 0.3333333333333333 Benign/Likely benign 0 -197620 Simple 139582106 A . Likely pathogenic 2 2 Muscle AMP deaminase deficiency;not provided 2016-12-22 5.7 1.5 Likely pathogenic 0 -197621 Simple 12948217 T . Benign/Likely benign 2 2 Spongy degeneration of central nervous system;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -197624 Simple 794727697 - . Pathogenic 2 4 Limb-girdle muscular dystrophy, type 2A;not provided 2016-05-31 22.200000000000003 1.75 Pathogenic 0 -197625 Simple 781444670 T . Pathogenic 2 2 Homocystinuria due to CBS deficiency 2017-07-11 10.8 1.5 Pathogenic/Likely pathogenic 1 -197626 Simple 201031527 A . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -197627 Simple 115338183 T . Benign/Likely benign 2 3 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -197628 Simple 2305181 C . Benign 2 2 not specified 2016-05-27 -10.8 2.0 Benign/Likely benign 1 -197629 Simple 17878375 G . Benign 2 3 not specified;Craniosynostosis 2017-07-14 -16.8 1.3333333333333333 Benign/Likely benign 1 -197630 Simple 2305180 T . Benign 2 3 not specified;Craniosynostosis 2017-06-14 -17.4 1.0 Benign/Likely benign 1 -197636 Simple 2229519 C . Benign 2 4 Polyglucosan body disease, adult;Glycogen storage disease, type IV;not specified 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -197640 Simple 797044749 C . Uncertain significance 2 2 not specified 2017-05-05 -0.6 0.5 Uncertain significance 0 -197659 Simple 148032587 A . Pathogenic/Likely pathogenic 2 3 Carbohydrate-deficient glycoprotein syndrome type I;not provided 2017-09-05 12.9 2.3333333333333335 Pathogenic/Likely pathogenic 0 -197662 Simple 746152219 T . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;not specified 2017-04-20 -0.54 1.5 Uncertain significance 0 -197664 Simple 146315473 AA . Benign/Likely benign 2 4 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-08-03 -18.0 2.0 Benign/Likely benign 0 -197668 Simple 17849501 T . Benign/Likely benign 2 3 Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;Chronic granulomatous disease;not specified 2017-08-01 -14.4 1.0 Benign/Likely benign 0 -197679 Simple 149344982 A . Benign/Likely benign 2 6 Hypophosphatasia;not specified;not provided 2017-07-14 -30.6 1.5 Benign 1 -197683 Simple 61737536 A . Benign/Likely benign 2 3 Deficiency of alpha-mannosidase;not specified 2017-07-18 -14.4 1.0 Benign/Likely benign 0 -197684 Simple 117843968 A . Likely benign 2 2 Deficiency of alpha-mannosidase;not specified 2017-07-17 -5.7 1.0 Likely benign 0 -197687 Simple 55659002 - . Benign 2 2 not specified 2015-09-18 -10.2 2.5 Benign/Likely benign 1 -197695 Simple 141735618 C . Uncertain significance 2 2 not specified 2016-08-01 -0.54 2.0 Uncertain significance 0 -197698 Simple 56135050 T . Benign 2 2 not specified;Premature ovarian failure 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -197699 Simple 56316086 C . Benign 2 2 not specified;Premature ovarian failure 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -197708 Simple 767671073 G . Uncertain significance 2 2 not specified 2015-11-17 -0.51 2.5 Uncertain significance 0 -197709 Simple 756065296 A . Uncertain significance 2 2 not specified 2017-08-11 -0.54 1.5 Uncertain significance 0 -197711 Simple 201329358 T . Uncertain significance 2 2 not specified 2017-02-07 -0.54 2.0 Uncertain significance 0 -197712 Simple 373911322 T . Benign/Likely benign 2 2 not specified 2015-12-16 -8.100000000000001 2.0 Likely benign 1 -197721 Simple 375491094 G . Uncertain significance 2 2 not specified 2016-11-09 -0.54 2.0 Uncertain significance 0 -197724 Simple 41304992 C . Likely benign 2 2 not specified;not provided 2016-11-30 -5.4 2.0 Likely benign 0 -197725 Simple 143587828 T . Uncertain significance 2 2 Smith-Lemli-Opitz syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -197728 Simple 371092631 A . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-06-12 -14.4 0.6666666666666666 Benign/Likely benign 0 -197733 Simple 141776183 G . Uncertain significance 2 4 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2017-06-22 -1.14 1.25 Uncertain significance 0 -197734 Simple 142639450 A . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -197735 Simple 570169691 - . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -197738 Simple 200306870 A . Benign 2 2 not specified;not provided 2017-06-05 -11.4 1.0 Benign/Likely benign 1 -197739 Simple 180841797 T . Benign/Likely benign 2 3 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified 2017-06-09 -13.8 1.3333333333333333 Benign/Likely benign 0 -197743 Simple 797044754 CC . Pathogenic 2 2 Spondyloepimetaphyseal dysplasia, Missouri type;not provided 2016-09-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -197751 Simple 528068364 - . Likely benign 2 2 Arthrogryposis multiplex congenita distal type 1;not specified 2017-08-04 -5.4 1.5 Likely benign 0 -197752 Simple 281865169 . . Uncertain significance 2 2 not specified;not provided 2016-09-30 -0.54 2.0 Uncertain significance 0 -197756 Simple 797044755 GG . Uncertain significance 2 2 not specified 2017-06-20 -0.5700000000000001 1.0 Uncertain significance 0 -197759 Simple 746636748 - . Pathogenic 2 2 Baller-Gerold syndrome;Rothmund-Thomson syndrome 2016-10-04 10.8 2.0 Pathogenic/Likely pathogenic 1 -197760 Simple 34159914 T . Benign/Likely benign 2 3 Baller-Gerold syndrome;not specified 2017-08-07 -14.4 0.6666666666666666 Benign/Likely benign 0 -197761 Simple 116794756 G . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-20 -14.4 1.0 Benign/Likely benign 0 -197769 Simple 794727720 C . Uncertain significance 2 2 not specified 2015-02-25 -0.48 3.0 Uncertain significance 0 -197775 Simple 59607260 A . Benign 2 2 not specified 2015-12-02 -10.2 2.5 Benign/Likely benign 1 -197778 Simple 144934321 C . Likely benign 3 3 not specified;Rasopathy 2017-04-18 -3.8099999999999996 1.6666666666666667 Uncertain significance 2 -197786 Simple 117153558 T . Benign/Likely benign 2 2 not specified 2014-11-24 -7.199999999999999 3.0 Likely benign 1 -197788 Simple 114950106 G . Benign/Likely benign 2 2 Niemann-Pick disease, type C;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -197790 Simple 34831194 A . Benign 2 4 not specified;Noonan syndrome 8 2017-01-19 -22.2 1.75 Benign/Likely benign 1 -197791 Simple 55727094 A . Benign 2 2 not specified 2016-01-09 -10.8 2.0 Benign/Likely benign 1 -197793 Simple 116938457 T . Uncertain significance 2 3 Primary ciliary dyskinesia;not specified 2017-06-11 -0.84 1.3333333333333333 Uncertain significance 0 -197798 Simple 2066513 T . Benign/Likely benign 2 3 Schimke immunoosseous dysplasia;not specified 2017-08-21 -13.8 1.3333333333333333 Benign/Likely benign 0 -197799 Simple 2066522 G . Benign/Likely benign 2 3 Schimke immunoosseous dysplasia;not specified 2017-08-07 -13.8 1.3333333333333333 Benign/Likely benign 0 -197814 Simple 202209866 T . Benign/Likely benign 2 4 Spastic paraplegia 4, autosomal dominant;not specified;Spastic Paraplegia, Dominant 2017-04-07 -19.8 1.25 Benign/Likely benign 0 -197816 Simple 75294107 A . Benign/Likely benign 2 2 not specified;Nephronophthisis 14 2017-07-28 -10.8 1.5 Benign/Likely benign 0 -197818 Simple 143468235 T . Likely benign 2 1 not specified 2016-06-06 . 1.0 . 0 -197822 Simple 150027129 A . Benign/Likely benign 2 2 not specified;Nephronophthisis 14 2017-06-09 -10.8 1.5 Benign/Likely benign 0 -197837 Simple 146758743 T . Benign/Likely benign 2 1 not specified 2014-10-02 . 3.0 . 0 -197846 Simple 2244380 T . Benign 2 4 Primary open angle glaucoma;not specified;Amyotrophic Lateral Sclerosis, Recessive 2017-07-21 -22.8 1.25 Benign/Likely benign 1 -197867 Simple 115206553 A . Uncertain significance 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-06-14 -0.54 2.0 Uncertain significance 0 -197880 Simple 765119777 A . Uncertain significance 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2016-12-05 -0.5700000000000001 1.5 Uncertain significance 0 -197881 Simple 147932449 T . Benign/Likely benign 2 5 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified 2017-07-28 -19.8 1.2 Benign/Likely benign 0 -197884 Simple 77144743 T . Benign/Likely benign 2 8 Anterior segment mesenchymal dysgenesis;Iridogoniodysgenesis, dominant type;Ring dermoid of cornea;not specified;Cataract;Peters anomaly;PITX2-Related Eye Abnormalities;Axenfeld-Rieger Syndrome 2016-06-14 -26.4 1.125 Benign 1 -197887 Simple 34154371 C . Benign/Likely benign 2 3 Peroxisome biogenesis disorder, complementation group 7;not specified 2017-06-09 -13.8 1.3333333333333333 Benign/Likely benign 0 -197891 Simple 794727740 T . Pathogenic/Likely pathogenic 2 5 Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy 7;Seizures;not provided;Early infantile epileptic encephalopathy 2017-09-14 19.2 1.8 Pathogenic 1 -197895 Simple 75395981 A . Benign/Likely benign 2 4 Microphthalmia, isolated 2;Microphthalmia, isolated 6;not specified;VSX2-related Microphthalmia 2017-07-02 -16.8 1.25 Benign/Likely benign 0 -197896 Simple 62006815 A . Benign/Likely benign 2 3 Microphthalmia, isolated 6;not specified;VSX2-related Microphthalmia 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -197907 Simple 142858990 A . Uncertain significance 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-06-29 -0.87 0.6666666666666666 Uncertain significance 0 -197914 Simple 376652526 C . Uncertain significance 2 2 Cohen syndrome;not specified 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -197915 Simple 201369510 T . Uncertain significance 2 4 Cryptophthalmos syndrome;not specified;not provided 2017-05-02 -1.14 1.25 Uncertain significance 0 -197918 Simple 2249492 T . Benign/Likely benign 2 6 Infantile cortical hyperostosis;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2017-07-26 -26.4 1.0 Benign 1 -197926 Simple 74952625 G . Benign/Likely benign 2 2 not specified 2015-12-31 -8.100000000000001 2.0 Likely benign 1 -197930 Simple 151098305 A . Benign/Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -25.8 1.2857142857142858 Benign 1 -197932 Simple 148660051 T . Pathogenic/Likely pathogenic 2 7 Usher syndrome, type 2A;Retinitis pigmentosa;Retinitis pigmentosa 39;not provided 2017-05-18 26.7 1.5714285714285714 Pathogenic 1 -197948 Simple 12721379 A . Benign/Likely benign 2 2 not specified 2016-06-06 -10.8 2.0 Benign/Likely benign 0 -197953 Simple 373968888 T . Uncertain significance 2 3 not specified;not provided 2017-05-31 -0.81 1.6666666666666667 Uncertain significance 0 -197955 Simple 151091241 T . Benign/Likely benign 2 6 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified;not provided 2017-08-07 -25.8 1.0 Benign 1 -197960 Simple 144777676 T . Uncertain significance 2 2 not specified;RYR1-Related Disorders 2016-09-26 -0.54 2.0 Uncertain significance 0 -197961 Simple 749618476 T . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-09 -0.84 1.0 Uncertain significance 0 -197965 Simple 199798179 T . Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -5.7 1.5 Likely benign 0 -197966 Simple 200990851 T . Uncertain significance 2 2 not specified 2017-08-18 -0.54 1.5 Uncertain significance 0 -197967 Simple 143762717 A . Uncertain significance 2 4 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-04 -1.17 1.0 Uncertain significance 0 -197969 Simple 200124755 G . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.54 1.5 Uncertain significance 0 -197971 Simple 367803009 T . Uncertain significance 2 2 not specified 2015-12-28 -0.51 2.5 Uncertain significance 0 -197978 Simple 76690956 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-10-04 -7.8 2.0 Likely benign 1 -197989 Simple 112577505 A . Likely benign 2 5 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2017-05-24 -14.4 1.2 Benign/Likely benign 1 -198000 Simple 149318543 A . Benign/Likely benign 2 3 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -10.5 2.0 Benign/Likely benign 0 -198004 Simple 150387973 A . Benign 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-02-23 -11.4 1.5 Benign/Likely benign 1 -198005 Simple 762015967 - . Uncertain significance 2 2 not specified 2016-01-05 -0.51 2.5 Uncertain significance 0 -198007 Simple 143437991 A . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -198011 Simple 201361100 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-04-07 20.4 2.25 Pathogenic 0 -198014 Simple 117360770 C . Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-01 -14.7 0.8 Benign/Likely benign 1 -198019 Simple 55821405 T . Likely benign 2 5 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-12-05 -14.4 1.4 Benign/Likely benign 1 -198031 Simple 760608643 A . Uncertain significance 2 2 not specified 2017-04-21 -0.54 1.5 Uncertain significance 0 -198037 Simple 78677072 T . Benign 2 2 Spongy degeneration of central nervous system;not specified 2017-08-04 -11.4 1.0 Benign/Likely benign 1 -198041 Simple 761079177 A . Uncertain significance 2 4 Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -1.05 2.25 Uncertain significance 0 -198042 Simple 1049254 G . Benign 2 1 not specified 2016-04-15 . 1.0 . 0 -198051 Simple 6179 G . Benign 2 3 Laron-type isolated somatotropin defect;not specified 2017-06-29 -16.8 1.3333333333333333 Benign/Likely benign 1 -198062 Simple 2854827 A . Benign 2 3 Kanzaki disease;Schindler disease, type 1;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -198066 Simple 776411851 T . Uncertain significance 2 3 Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -198067 Simple 56257827 T . Benign/Likely benign 2 4 not specified;not provided 2017-06-13 -16.8 1.0 Benign/Likely benign 0 -198069 Simple 76296626 T . Benign/Likely benign 2 3 Frontotemporal dementia;not specified;Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -198070 Simple 143738711 A . Benign 2 6 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-08-10 -35.4 1.0 Benign 0 -198071 Simple 1042636 G . Benign 2 7 Hypoparathyroidism familial isolated;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia 2016-06-14 -37.8 2.0 Benign 0 -198072 Simple 34200949 A . Benign 2 2 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2017-08-15 -10.8 1.5 Benign/Likely benign 1 -198076 Simple 750241218 A . Uncertain significance 2 2 not specified 2016-09-19 -0.54 2.0 Uncertain significance 0 -198077 Simple 189115557 T . Pathogenic 2 6 GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;not provided;GLB1-Related Disorders 2017-07-05 31.2 2.1666666666666665 Pathogenic 0 -198079 Simple 25640 A . Benign 2 4 Bifunctional peroxisomal enzyme deficiency;not specified;Perrault Syndrome 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -198082 Simple 1202283 A . Benign 2 4 Progressive intrahepatic cholestasis;not specified;Familial Intrahepatic Cholestasis 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -198084 Simple 6993938 C . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-07 -14.4 0.6666666666666666 Benign/Likely benign 0 -198085 Simple 746391025 A . Benign/Likely benign 2 2 not specified 2016-08-12 -9.0 1.0 Benign/Likely benign 0 -198087 Simple 7187889 A . Benign/Likely benign 2 3 Mucopolysaccharidosis, MPS-IV-A;Morquio syndrome;not specified 2017-07-18 -13.8 1.3333333333333333 Benign/Likely benign 0 -198090 Simple 761616815 A . Uncertain significance 2 3 not specified;RYR1-Related Disorders 2017-02-08 -0.84 1.6666666666666667 Uncertain significance 0 -198092 Simple 199915216 T . Uncertain significance 2 2 not specified;not provided 2015-04-14 -0.51 2.5 Uncertain significance 0 -198093 Simple 120074118 - . Pathogenic 2 4 Niemann-Pick disease, type B;Niemann-Pick disease, type A;Sphingomyelin/cholesterol lipidosis;not provided 2017-06-23 22.2 1.5 Pathogenic 0 -198094 Simple 142787001 T . Uncertain significance 2 2 not specified 2017-02-02 -0.5700000000000001 1.5 Uncertain significance 0 -198108 Simple 34516635 A . Likely benign 2 2 not specified;not provided 2017-03-17 -5.4 1.5 Likely benign 0 -198109 Simple 2275260 G . Benign 2 3 Lethal arthrogryposis with anterior horn cell disease;not specified;Lethal Congenital Contracture Syndrome 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -198111 Simple 55909005 T . Benign/Likely benign 2 5 Hereditary insensitivity to pain with anhidrosis;not specified;not provided 2017-06-12 -25.200000000000003 1.4 Benign 1 -198112 Simple 143346057 C . Uncertain significance 2 2 Roberts-SC phocomelia syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -198113 Simple 189638090 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -198116 Simple 191125006 T . Likely benign 2 1 not specified 2015-02-17 . 3.0 . 0 -198129 Simple 141816797 G . Benign 2 2 Early infantile epileptic encephalopathy 9;not specified 2017-07-24 -10.8 1.5 Benign/Likely benign 1 -198132 Simple 76827562 C . Benign/Likely benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -198133 Simple 192609440 A . Uncertain significance 2 4 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2016-10-05 -1.14 1.5 Uncertain significance 0 -198146 Simple 144681826 G . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-15 -0.54 1.5 Uncertain significance 0 -198147 Simple 201594532 A . Uncertain significance 2 3 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related 2016-12-30 -0.84 1.6666666666666667 Uncertain significance 0 -198148 Simple 149849256 T . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -198156 Simple 146789646 A . Benign 2 2 Shprintzen-Goldberg syndrome;not specified 2017-05-16 -11.4 1.0 Benign/Likely benign 1 -198157 Simple 794727792 T . Pathogenic 2 2 Early infantile epileptic encephalopathy 4;not provided 2017-02-24 11.4 1.5 Pathogenic/Likely pathogenic 1 -198162 Simple 794727794 - . Pathogenic 2 3 Myoclonic dystonia;not provided 2017-06-07 16.8 1.3333333333333333 Pathogenic 0 -198167 Simple 35227432 T . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-14 -17.4 0.75 Benign/Likely benign 0 -198170 Simple 2652098 T . Benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -198172 Simple 112932272 T . Benign/Likely benign 2 4 Weaver syndrome;not specified 2017-04-04 -19.2 1.5 Benign/Likely benign 0 -198175 Simple 201083970 A . Benign/Likely benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -198182 Simple 2853462 T . Benign/Likely benign 2 4 Multiple pterygium syndrome Escobar type;not specified 2016-06-14 -16.2 1.75 Benign/Likely benign 0 -198189 Simple 146589414 G . Benign/Likely benign 2 2 Ulnar-mammary syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -198190 Simple 150771247 A . Uncertain significance 2 4 Cataract 41;Diabetes mellitus AND insipidus with optic atrophy AND deafness;WFS1-Related Disorders;Diabetes mellitus type 2;Wolfram-like syndrome, autosomal dominant;not specified 2017-05-23 -1.08 1.75 Uncertain significance 0 -198195 Simple 766376173 A . Uncertain significance 2 2 GLUT1 deficiency syndrome 1, autosomal recessive;not specified 2017-04-06 -0.54 1.5 Uncertain significance 0 -198198 Simple 773641701 T . Uncertain significance 2 2 Early infantile epileptic encephalopathy 12;not specified 2016-12-07 -0.54 2.0 Uncertain significance 0 -198200 Simple 794727800 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided 2017-06-29 -6.84 1.0 Likely benign 0 -198201 Simple 2072708 G . Benign 2 1 not specified 2015-04-14 . 2.0 . 0 -198202 Simple 2066518 C . Benign/Likely benign 2 3 Schimke immunoosseous dysplasia;not specified 2017-07-27 -13.8 1.3333333333333333 Benign/Likely benign 0 -198206 Simple 1876465 G . Benign 2 2 not specified 2016-07-08 -11.4 1.5 Benign/Likely benign 1 -198208 Simple 150427474 A . Uncertain significance 2 2 not specified 2016-06-06 -0.54 2.0 Uncertain significance 0 -198211 Simple 201591640 G . Uncertain significance 2 2 not specified;Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -198216 Simple 61758100 A . Benign/Likely benign 2 2 not specified;not provided 2017-08-24 -7.8 1.5 Likely benign 1 -198219 Simple 794727804 - . Pathogenic 2 2 Dominant hereditary optic atrophy;not provided 2016-06-27 10.8 2.0 Pathogenic/Likely pathogenic 1 -198227 Simple 755203240 C . Uncertain significance 2 2 not specified 2017-08-25 -0.54 1.5 Uncertain significance 0 -198235 Simple 7195893 T . Benign 2 2 not specified 2016-04-19 -11.4 1.5 Benign/Likely benign 1 -198236 Simple 200517269 A . Uncertain significance 2 2 Cone-rod dystrophy amelogenesis imperfecta;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -198237 Simple 34177164 T . Benign/Likely benign 2 3 Eichsfeld type congenital muscular dystrophy;not specified 2017-06-06 -11.7 0.6666666666666666 Benign/Likely benign 0 -198247 Simple 769399113 A . Uncertain significance 2 2 not specified 2017-10-06 -0.54 1.5 Uncertain significance 0 -198252 Simple 773774134 T . Pathogenic 2 2 3-methylcrotonyl CoA carboxylase 2 deficiency;not provided 2016-01-06 10.8 2.0 Pathogenic/Likely pathogenic 1 -198255 Simple 201403389 A . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -198256 Simple 779215539 A . Uncertain significance 2 2 not specified 2017-03-30 -0.54 1.5 Uncertain significance 0 -198257 Simple 149925563 A . Uncertain significance 2 2 not specified 2017-04-17 -0.54 1.5 Uncertain significance 0 -198262 Simple 147485641 T . Benign/Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-08-07 -8.7 1.0 Benign/Likely benign 0 -198263 Simple 150331261 C . Benign/Likely benign 2 2 not specified 2015-07-22 -8.100000000000001 2.0 Likely benign 1 -198265 Simple 150296134 T . Uncertain significance 2 2 not specified 2015-11-19 -0.54 2.0 Uncertain significance 0 -198270 Simple 367702668 T . Uncertain significance 2 2 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 -0.54 2.0 Uncertain significance 0 -198271 Simple 61736238 T . Benign/Likely benign 2 3 Microphthalmia, isolated 5;Retinal degeneration;not specified;Retinal degeneration 2017-07-27 -13.8 1.3333333333333333 Benign/Likely benign 0 -198273 Simple 147184158 A . Benign/Likely benign 2 5 not specified;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-07-13 -16.2 1.8 Benign/Likely benign 0 -198277 Simple 536456650 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -198281 Simple 6446393 T . Benign 2 4 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -198282 Simple 6414624 C . Benign 2 4 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -198283 Simple 41269555 A . Benign 2 2 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified 2017-04-04 -10.8 1.5 Benign/Likely benign 1 -198285 Simple 200922655 . . Benign 2 6 not specified;Ataxia with Oculomotor Apraxia;Coenzyme Q10 deficiency, Oculomotor Apraxia Type 2017-06-09 -34.2 1.3333333333333333 Benign 0 -198295 Simple 553265417 - . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -198301 Simple 145901197 C . Benign/Likely benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -198304 Simple 138908576 T . Uncertain significance 2 2 not specified 2017-09-26 -0.5700000000000001 1.0 Uncertain significance 0 -198306 Simple 149798764 G . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-20 -0.54 2.0 Uncertain significance 0 -198308 Simple 200729207 T . Uncertain significance 2 3 Nemaline myopathy 2;not specified 2017-07-31 -0.84 1.0 Uncertain significance 0 -198329 Simple 116130182 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-05 -25.8 1.0 Benign 1 -198333 Simple 188987688 T . Uncertain significance 2 2 not specified 2016-10-19 -0.5700000000000001 1.5 Uncertain significance 0 -198339 Simple 36007735 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-26 -13.8 1.3333333333333333 Benign/Likely benign 0 -198341 Simple 138879998 T . Benign/Likely benign 2 2 not specified 2016-06-28 -8.4 1.5 Benign/Likely benign 0 -198347 Simple 370932895 A . Uncertain significance 2 3 Primary ciliary dyskinesia;not specified 2017-07-08 -0.81 1.6666666666666667 Uncertain significance 0 -198352 Simple 138428684 G . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;not provided 2017-07-17 -14.1 1.25 Benign/Likely benign 0 -198357 Simple 794727829 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-28 -0.5700000000000001 1.0 Uncertain significance 0 -198360 Simple 140250347 T . Uncertain significance 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-06-14 -1.14 1.5 Uncertain significance 0 -198363 Simple 148522587 T . Uncertain significance 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-21 -1.17 1.0 Uncertain significance 0 -198366 Simple 534656527 T . Uncertain significance 2 2 not specified 2015-04-28 -0.54 2.0 Uncertain significance 0 -198368 Simple 143616240 C . Uncertain significance 2 3 not specified 2017-02-08 -0.87 1.3333333333333333 Uncertain significance 0 -198369 Simple 117270796 C . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -19.8 1.25 Benign/Likely benign 0 -198375 Simple 371605774 T . Benign 2 2 Nemaline myopathy 2;not specified 2017-07-28 -11.4 1.0 Benign/Likely benign 1 -198386 Simple 751930594 G . Pathogenic 2 2 Citrullinemia type I 2016-09-01 10.2 2.5 Pathogenic/Likely pathogenic 1 -198391 Simple 794727836 - . Pathogenic 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided 2017-05-30 23.4 1.0 Pathogenic 0 -198392 Simple 794727837 G . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2016-09-12 -0.5700000000000001 1.5 Uncertain significance 0 -198396 Simple 149120354 C . Likely pathogenic 2 3 Glutaric aciduria, type 1 2017-06-29 8.7 0.6666666666666666 Pathogenic/Likely pathogenic 1 -198410 Simple 777677768 CTTCTT . Uncertain significance 2 4 Joubert syndrome;Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -1.14 1.5 Uncertain significance 0 -198422 Simple 3752874 A . Benign 2 2 Thyroid Hormone Resistance;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -198423 Simple 3200254 C . Benign 2 2 Hypophosphatasia;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -198427 Simple 140162658 T . Uncertain significance 2 2 Morquio syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -198428 Simple 374722096 T . Pathogenic/Likely pathogenic 2 4 Propionic acidemia;not specified;not provided 2016-09-12 20.4 1.25 Pathogenic 1 -198432 Simple 2230306 T . Benign 2 4 Glycogen storage disease type III;not specified 2017-08-01 -22.2 1.5 Benign/Likely benign 1 -198436 Simple 6277 A . Benign 2 1 not specified 2015-05-21 . 2.0 . 0 -198441 Simple 4550493 T . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -198444 Simple 4543051 A . Benign 2 2 Renal dysplasia and retinal aplasia;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -198454 Simple 114363936 T . Benign 2 3 not specified;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2017-06-20 -16.8 1.3333333333333333 Benign/Likely benign 1 -198455 Simple 147025508 A . Benign/Likely benign 2 3 Spondyloenchondrodysplasia with immune dysregulation;not specified;not provided 2017-08-11 -14.4 0.6666666666666666 Benign/Likely benign 0 -198464 Simple 11798700 C . Benign 2 2 not specified 2016-03-04 -10.8 2.0 Benign/Likely benign 1 -198465 Simple 368428875 - . Benign/Likely benign 2 2 Myopathy with postural muscle atrophy, X-linked;not specified 2017-07-02 -8.4 1.5 Benign/Likely benign 0 -198466 Simple 2076705 T . Benign 2 3 Myopathy with postural muscle atrophy, X-linked;Scapuloperoneal myopathy, X-linked dominant;not specified 2017-05-01 -16.8 1.3333333333333333 Benign/Likely benign 1 -198467 Simple 754308516 A . Uncertain significance 2 2 Myopathy with postural muscle atrophy, X-linked;not specified 2016-12-30 -0.54 2.0 Uncertain significance 0 -198470 Simple 3888798 C . Benign/Likely benign 2 4 Haim-Munk syndrome;Papillon-Lefèvre syndrome;not specified 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -198471 Simple 3737548 T . Benign/Likely benign 2 4 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -17.4 1.25 Benign/Likely benign 0 -198472 Simple 34458255 T . Benign/Likely benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -198473 Simple 794727855 T . Pathogenic 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 2016-12-21 15.6 2.3333333333333335 Pathogenic 0 -198476 Simple 111427762 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-12-31 -0.54 2.0 Uncertain significance 0 -198477 Simple 186526524 A . Uncertain significance 2 2 not specified;Usher syndrome, type 3B 2017-05-01 -0.54 1.5 Uncertain significance 0 -198483 Simple 145972303 T . Uncertain significance 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -198489 Simple 769322487 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 1;not specified;Schwannomatosis 2016-08-07 -0.54 2.0 Uncertain significance 0 -198494 Simple 150917600 C . Uncertain significance 2 2 not specified 2017-05-11 -0.6 0.5 Uncertain significance 0 -198497 Simple 138054675 T . Benign 2 3 Dysferlinopathy;not specified 2017-07-14 -16.8 1.3333333333333333 Benign/Likely benign 1 -198500 Simple 200683924 A . Uncertain significance 2 3 Amish infantile epilepsy syndrome;not specified 2016-06-14 -0.78 2.3333333333333335 Uncertain significance 0 -198510 Simple 146560021 C . Likely benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -198521 Simple 117685425 T . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -198522 Simple 371059164 T . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -198527 Simple 138125827 A . Uncertain significance 2 3 Multiple pterygium syndrome Escobar type;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -198532 Simple 56355310 C . Uncertain significance 2 3 not specified 2017-07-05 -0.84 1.3333333333333333 Uncertain significance 0 -198539 Simple 62619919 T . Benign/Likely benign 2 2 not specified 2016-02-22 -7.5 2.5 Likely benign 1 -198541 Simple 534770840 G . Uncertain significance 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -0.54 2.0 Uncertain significance 0 -198546 Simple 143625481 C . Uncertain significance 2 2 not specified 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -198547 Simple 148479015 C . Likely benign 2 6 Spheroid body myopathy;Myotilinopathy;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-25 -18.0 0.6666666666666666 Benign/Likely benign 1 -198548 Simple 142828368 T . Benign/Likely benign 2 6 Spheroid body myopathy;Myotilinopathy;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-24 -23.4 1.0 Benign/Likely benign 0 -198549 Simple 115259839 C . Uncertain significance 2 2 not specified 2017-10-31 -0.6 0.5 Uncertain significance 0 -198551 Simple 34396874 AA . Benign/Likely benign 2 2 not specified;Familial exudative vitreoretinopathy 2016-06-14 -7.8 2.0 Likely benign 1 -198552 Simple 16883930 T . Benign/Likely benign 2 4 Salla disease;not specified 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -198557 Simple 199688602 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -198559 Simple 794727872 G . Uncertain significance 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -198560 Simple 748787013 G . Uncertain significance 2 2 not specified;not provided 2016-09-29 -0.54 2.0 Uncertain significance 0 -198568 Simple 191137504 C . Benign/Likely benign 2 2 Ciliary dyskinesia, primary, 6;not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 0 -198578 Simple 772395858 C . Pathogenic/Likely pathogenic 2 2 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2017-03-22 9.0 0.5 Pathogenic/Likely pathogenic 0 -198579 Simple 398099213 - . Benign 2 1 not specified 2014-08-01 . 3.0 . 0 -198580 Simple 142378760 T . Uncertain significance 2 3 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-07-27 -0.81 1.6666666666666667 Uncertain significance 0 -198581 Simple 397756552 TT . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -198582 Simple 139600783 T . Benign/Likely benign 2 3 not specified;Adams-Oliver syndrome;not provided 2016-07-18 -10.8 1.6666666666666667 Benign/Likely benign 0 -198584 Simple 56154381 AA . Benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-08-10 -16.8 1.0 Benign/Likely benign 1 -198591 Simple 16754 C . Benign 2 7 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WILMS TUMOR 2017-04-14 -40.8 1.1428571428571428 Benign 0 -198600 Simple 794727879 G . Uncertain significance 2 2 not specified 2017-03-21 -0.54 1.5 Uncertain significance 0 -198601 Simple 10814196 T . Benign 2 3 not specified;Hyperphosphatasia with Intellectual Disability Syndrome 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -198604 Simple 190906755 G . Uncertain significance 2 2 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -198606 Simple 9840993 A . Benign/Likely benign 2 5 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-22 -24.6 1.8 Benign 1 -198608 Simple 794727881 - . Pathogenic 2 2 Mental retardation, syndromic 14, X-linked;not provided 2017-05-25 10.8 1.5 Pathogenic/Likely pathogenic 1 -198609 Simple 139116571 T . Uncertain significance 2 3 not specified 2016-11-17 -0.81 2.0 Uncertain significance 0 -198616 Simple 545812620 - . Benign/Likely benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-01-16 -7.8 2.0 Likely benign 1 -198617 Simple 148882860 C . Benign 2 1 not specified 2015-01-29 . 3.0 . 0 -198618 Simple 112734134 G . Uncertain significance 2 3 Ceroid lipofuscinosis neuronal 7;not specified 2017-07-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -198620 Simple 142502371 T . Uncertain significance 2 2 not specified 2015-07-15 -0.51 2.5 Uncertain significance 0 -198621 Simple 570770626 T . Uncertain significance 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2016-06-24 -0.54 2.0 Uncertain significance 0 -198633 Simple 142857810 T . Uncertain significance 2 2 not specified;not provided 2016-11-30 -0.54 2.0 Uncertain significance 0 -198636 Simple 11037882 A . Benign 2 1 not specified 2014-07-17 . 3.0 . 0 -198640 Simple 370074117 T . Uncertain significance 2 2 not specified 2017-09-06 -0.54 1.5 Uncertain significance 0 -198646 Simple 117018177 T . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-08-08 -19.8 1.25 Benign/Likely benign 0 -198648 Simple 141290741 A . Benign/Likely benign 2 2 not specified 2015-03-25 -7.800000000000001 2.5 Likely benign 1 -198654 Simple 148493518 T . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-01 -22.8 1.2 Benign/Likely benign 0 -198658 Simple 371952058 A . Uncertain significance 2 2 not specified;not provided 2016-10-31 -0.5700000000000001 1.5 Uncertain significance 0 -198668 Simple 2797445 T . Benign 2 1 not specified 2014-09-15 . 3.0 . 0 -198669 Simple 143543800 T . Benign 2 2 not specified 2016-09-01 -10.8 2.0 Benign/Likely benign 1 -198679 Simple 372049328 C . Uncertain significance 2 3 not specified;not provided;Nemaline Myopathy, Recessive 2016-12-31 -0.84 1.6666666666666667 Uncertain significance 0 -198683 Simple 140629318 A . Pathogenic/Likely pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency 2016-06-14 7.8 2.0 Likely pathogenic 1 -198694 Simple 778700037 GG . Pathogenic 2 3 Mucopolysaccharidosis, MPS-III-A;not provided 2017-01-16 16.8 1.6666666666666667 Pathogenic 0 -198697 Simple 2059806 T . Benign 2 5 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-12-08 -28.8 1.4 Benign 0 -198702 Simple 794727897 T . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease type C1 2015-12-16 7.5 2.5 Likely pathogenic 1 -198707 Simple 797044784 GACC . Pathogenic/Likely pathogenic 2 3 Tyrosinase-positive oculocutaneous albinism;not provided 2017-07-28 10.5 1.6666666666666667 Pathogenic/Likely pathogenic 0 -198708 Simple 538229 G . Benign/Likely benign 2 3 Propionic acidemia;not specified 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -198712 Simple 149219369 G . Benign/Likely benign 2 1 not specified 2015-02-23 . 3.0 . 0 -198714 Simple 151319324 A . Uncertain significance 2 3 Carbohydrate-deficient glycoprotein syndrome type I;not specified;not provided 2017-08-23 -0.87 1.0 Uncertain significance 0 -198730 Simple 202146217 T . Benign/Likely benign 2 2 not specified 2016-12-28 -8.4 1.5 Benign/Likely benign 0 -198732 Simple 759473833 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.14 0.75 Uncertain significance 0 -198733 Simple 540762357 A . Uncertain significance 2 2 Metachromatic leukodystrophy;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -198734 Simple 148352371 T . Uncertain significance 2 2 Metachromatic leukodystrophy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -198738 Simple 150691494 G . Uncertain significance 2 3 Cystic fibrosis;not specified 2017-07-06 -0.87 1.0 Uncertain significance 0 -198740 Simple 150555106 A . Uncertain significance 2 3 Propionic acidemia;not specified 2017-05-23 -0.84 1.0 Uncertain significance 0 -198743 Simple 41302073 G . Benign 2 1 not specified 2015-01-08 . 3.0 . 0 -198744 Simple 34060600 A . Benign/Likely benign 2 1 not specified 2014-12-11 . 3.0 . 0 -198745 Simple 1800387 T . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -198749 Simple 41265127 G . Benign/Likely benign 2 3 Lethal multiple pterygium syndrome;not specified;not provided 2017-07-21 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -198752 Simple 138817389 A . Benign/Likely benign 2 3 not specified 2015-10-30 -10.8 2.0 Benign/Likely benign 0 -198756 Simple 140335079 T . Benign 2 1 not specified 2014-05-20 . 3.0 . 0 -198765 Simple 181099904 T . Benign/Likely benign 2 2 not specified;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2017-05-08 -9.0 0.5 Benign/Likely benign 0 -198776 Simple 4808864 G . Benign 2 1 not specified 2016-03-16 . 1.0 . 0 -198780 Simple 201174259 A . Benign 2 3 Marshall-Smith syndrome;not specified;Sotos syndrome 2 2017-04-04 -16.2 1.6666666666666667 Benign/Likely benign 1 -198785 Simple 782529153 T . Uncertain significance 2 2 not specified 2014-12-17 -0.48 3.0 Uncertain significance 0 -198786 Simple 797044789 T . Uncertain significance 2 2 not specified 2015-11-20 -0.51 2.5 Uncertain significance 0 -198789 Simple 34948955 T . Benign 2 2 Baller-Gerold syndrome;not specified 2017-08-02 -11.4 1.0 Benign/Likely benign 1 -198794 Simple 147724430 A . Benign/Likely benign 2 2 not specified 2017-06-14 -7.8 1.5 Likely benign 1 -198795 Simple 144610900 G . Benign/Likely benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-08-18 -15.0 1.0 Benign/Likely benign 0 -198797 Simple 160279 G . Benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -198798 Simple 160278 A . Benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -198799 Simple 3096171 A . Benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -198800 Simple 111512368 T . Benign 2 1 not specified 2014-06-20 . 3.0 . 0 -198802 Simple 160277 T . Benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -198803 Simple 2548541 A . Benign 2 4 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -198817 Simple 142296407 A . Benign/Likely benign 2 3 Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome;Holoprosencephaly 2016-12-02 -14.4 1.3333333333333333 Benign/Likely benign 0 -198820 Simple 147181577 T . Benign 2 3 Brugada syndrome 8;not specified 2017-07-25 -16.8 1.3333333333333333 Benign/Likely benign 1 -198821 Simple 143188160 T . Benign 2 3 Brugada syndrome 8;not specified 2017-05-10 -16.2 1.6666666666666667 Benign/Likely benign 1 -198826 Simple 140402087 A . Benign 2 3 Brugada syndrome 8;not specified 2017-06-28 -16.8 1.3333333333333333 Benign/Likely benign 1 -198827 Simple 75307879 T . Benign 2 3 Brugada syndrome 8;not specified 2017-07-26 -16.2 1.6666666666666667 Benign/Likely benign 1 -198839 Simple 141801107 T . Uncertain significance 2 2 not specified;Spondyloepimetaphyseal dysplasia 2016-06-14 -0.54 2.0 Uncertain significance 0 -198840 Simple 144850468 A . Benign/Likely benign 2 2 Congenital muscular hypertrophy-cerebral syndrome;not specified 2017-06-22 -8.4 1.5 Benign/Likely benign 0 -198842 Simple 80359825 A . Pathogenic/Likely pathogenic 2 3 GLUT1 deficiency syndrome 1;Epilepsy, idiopathic generalized, susceptibility to, 12;Glucose transporter type 1 deficiency syndrome 2015-11-04 12.3 2.6666666666666665 Pathogenic/Likely pathogenic 0 -198854 Simple 375172684 T . Uncertain significance 2 2 not specified 2016-09-28 -0.54 2.0 Uncertain significance 0 -198855 Simple 34424371 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-07-19 -20.4 1.0 Benign/Likely benign 0 -198856 Simple 183061595 G . Uncertain significance 2 3 ANKRD1-related dilated cardiomyopathy;not specified 2016-12-05 -0.87 1.3333333333333333 Uncertain significance 0 -198863 Simple 794727923 T . Uncertain significance 2 2 Mowat-Wilson syndrome;not specified 2017-04-26 -0.54 1.5 Uncertain significance 0 -198872 Simple 140670994 A . Likely benign 2 3 Alstrom syndrome;not specified 2017-06-01 -8.7 0.6666666666666666 Benign/Likely benign 1 -198874 Simple 62151609 A . Benign/Likely benign 2 3 Alstrom syndrome;not specified 2017-07-18 -13.8 1.0 Benign/Likely benign 0 -198876 Simple 148040591 A . Uncertain significance 2 2 not specified;Monogenic diabetes 2015-10-13 -0.54 2.0 Uncertain significance 0 -198880 Simple 201234482 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -198886 Simple 181625846 G . Uncertain significance 2 2 not specified 2017-04-24 -0.5700000000000001 1.0 Uncertain significance 0 -198887 Simple 149176010 G . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -198888 Simple 377286138 T . Uncertain significance 2 3 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2016-05-10 -0.75 2.6666666666666665 Uncertain significance 0 -198889 Simple 6550987 C . Benign 2 2 not specified 2015-09-15 -10.8 2.0 Benign/Likely benign 1 -198894 Simple 199794578 C . Uncertain significance 2 3 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-06-23 -0.84 1.0 Uncertain significance 0 -198895 Simple 61741379 C . Benign 2 2 not specified;Distal spinal muscular atrophy 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -198898 Simple 56217199 A . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-04-07 -11.4 1.0 Benign/Likely benign 1 -198899 Simple 201673783 G . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -198902 Simple 4148217 A . Benign 2 2 Sitosterolemia;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -198908 Simple 201039834 A . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -198910 Simple 781424186 A . Uncertain significance 2 2 not specified 2017-11-03 -0.54 1.5 Uncertain significance 0 -198912 Simple 148509395 G . Benign/Likely benign 2 3 not specified;not provided 2017-06-15 -10.5 1.6666666666666667 Benign/Likely benign 0 -198918 Simple 138452760 A . Uncertain significance 2 3 Progressive myoclonus epilepsy with ataxia;not specified 2017-06-22 -0.84 1.0 Uncertain significance 0 -198920 Simple 369790443 T . Uncertain significance 2 2 not specified 2014-12-02 -0.44999999999999996 3.5 Uncertain significance 0 -198921 Simple 112829587 T . Benign/Likely benign 2 2 not specified;not provided 2017-05-08 -7.8 1.5 Likely benign 1 -198927 Simple 542291993 A . Uncertain significance 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -198936 Simple 776960594 C . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -198937 Simple 776796485 G . Uncertain significance 2 2 not specified 2017-01-26 -0.54 2.0 Uncertain significance 0 -198941 Simple 150187840 A . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-07-17 -20.4 1.1666666666666667 Benign/Likely benign 0 -198947 Simple 201313856 G . Uncertain significance 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -1.17 1.25 Uncertain significance 0 -198956 Simple 202216852 T . Uncertain significance 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -198958 Simple 111866498 A . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -198969 Simple 141550859 T . Uncertain significance 2 2 not specified 2017-01-25 -0.6 1.0 Uncertain significance 0 -198970 Simple 188234466 C . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.31 1.375 Uncertain significance 0 -198971 Simple 140403186 C . Benign/Likely benign 2 3 not specified;not provided 2016-10-28 -13.5 2.0 Benign/Likely benign 0 -198988 Simple 149119723 A . Pathogenic/Likely pathogenic 2 4 Homocystinuria due to CBS deficiency;not provided 2017-08-25 19.8 1.0 Pathogenic 1 -198993 Simple 74887188 C . Benign/Likely benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -199000 Simple 146019467 T . Benign/Likely benign 2 4 METHYLCOBALAMIN DEFICIENCY, cblG TYPE;Disorders of Intracellular Cobalamin Metabolism;not specified 2017-08-04 -20.4 1.0 Benign/Likely benign 0 -199002 Simple 116046557 A . Benign/Likely benign 2 2 Niemann-Pick disease, type C;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -199003 Simple 146343637 T . Benign/Likely benign 2 1 not specified 2014-09-18 . 3.0 . 0 -199009 Simple 146902902 C . Uncertain significance 2 6 Ceroid lipofuscinosis neuronal 1;not specified;not provided;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-08-22 -1.77 0.6666666666666666 Uncertain significance 0 -199019 Simple 73640833 A . Benign 2 3 not specified;Spastic paraplegia 2016-12-07 -16.2 2.0 Benign/Likely benign 1 -199029 Simple 782781078 T . Uncertain significance 2 2 not specified;not provided 2015-08-24 -0.54 2.0 Uncertain significance 0 -199034 Simple 17121464 A . Benign/Likely benign 2 4 Glycogen storage disease type III;not specified 2017-08-10 -19.2 1.5 Benign/Likely benign 0 -199037 Simple 79209506 G . Benign/Likely benign 2 3 not specified;not provided;Myasthenic syndrome, congenital, 2a, slow-channel 2017-05-31 -11.4 1.0 Benign/Likely benign 0 -199060 Simple 181769913 G . Benign/Likely benign 2 5 Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype 2017-07-25 -24.6 1.6 Benign 1 -199062 Simple 547488738 G . Benign/Likely benign 2 3 Glucose-6-phosphate transport defect;not specified 2017-06-09 -13.8 1.3333333333333333 Benign/Likely benign 0 -199064 Simple 145014649 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -199067 Simple 368150818 T . Uncertain significance 2 2 not specified;not provided 2017-05-31 -0.54 1.5 Uncertain significance 0 -199072 Simple 137979802 T . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -199075 Simple 200714716 A . Uncertain significance 2 2 not specified;Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 -0.54 2.0 Uncertain significance 0 -199076 Simple 61744209 T . Benign/Likely benign 2 3 Syndactyly Cenani Lenz type;Sclerosteosis 2;not specified;Myasthenic syndrome, congenital, 17 2017-08-07 -13.8 1.3333333333333333 Benign/Likely benign 0 -199080 Simple 2234744 A . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-04-10 -10.8 2.0 Benign/Likely benign 1 -199081 Simple 2307434 - . Benign 2 3 Progressive sclerosing poliodystrophy;not specified 2017-04-03 -15.0 2.3333333333333335 Benign/Likely benign 1 -199090 Simple 74425496 C . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-27 -19.8 1.25 Benign/Likely benign 0 -199091 Simple 114061998 A . Likely benign 2 1 not specified 2015-09-15 . 2.0 . 0 -199097 Simple 2230578 T . Benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -199108 Simple 144147706 A . Uncertain significance 2 3 Progressive myoclonic epilepsy;not specified 2017-10-31 -0.84 1.3333333333333333 Uncertain significance 0 -199113 Simple 79790275 C . Benign 2 3 Mental retardation, X-linked, syndromic, Hedera type;not specified 2016-09-03 -15.6 2.3333333333333335 Benign/Likely benign 1 -199119 Simple 184221540 G . Benign/Likely benign 2 3 not specified;not provided 2016-11-28 -13.8 1.6666666666666667 Benign/Likely benign 0 -199127 Simple 61749920 T . Benign 2 3 Growth hormone insensitivity with immunodeficiency;not specified 2017-07-31 -17.4 1.0 Benign/Likely benign 1 -199128 Simple 59491077 T . Benign 2 2 Growth hormone insensitivity with immunodeficiency;not specified 2017-08-07 -10.8 1.5 Benign/Likely benign 1 -199131 Simple 370033099 G . Uncertain significance 2 3 Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked;not specified 2017-06-30 -0.81 1.6666666666666667 Uncertain significance 0 -199133 Simple 41278630 A . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2017-08-01 -17.4 1.0 Benign/Likely benign 0 -199139 Simple 142653982 T . Uncertain significance 2 2 not specified 2016-12-21 -0.54 2.0 Uncertain significance 0 -199140 Simple 200780900 - . Benign/Likely benign 2 2 not specified;not provided 2017-07-17 -7.8 1.5 Likely benign 1 -199141 Simple 371243793 T . Uncertain significance 2 2 not specified 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -199146 Simple 763275881 G . Uncertain significance 2 2 Mental retardation, autosomal dominant 1;not specified 2017-06-03 -0.5700000000000001 1.0 Uncertain significance 0 -199148 Simple 149278000 A . Uncertain significance 2 3 Mental retardation, autosomal dominant 1;not specified 2017-08-02 -0.84 1.3333333333333333 Uncertain significance 0 -199151 Simple 116413446 T . Benign/Likely benign 2 4 Mental retardation, autosomal dominant 1;not specified 2017-06-12 -18.3 2.0 Benign/Likely benign 0 -199157 Simple 4838544 A . Benign 2 2 not specified 2016-03-28 -10.8 2.0 Benign/Likely benign 1 -199158 Simple 76014951 T . Benign/Likely benign 2 2 Familial infantile myasthenia;not specified 2017-05-26 -10.8 1.5 Benign/Likely benign 0 -199160 Simple 794727977 T . Pathogenic 2 2 Mental retardation, autosomal dominant 12;not provided 2017-02-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -199162 Simple 1871137 T . Benign 2 2 Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -199163 Simple 79385822 A . Uncertain significance 2 2 Nephronophthisis-like nephropathy 1;not specified 2017-05-29 -0.54 1.5 Uncertain significance 0 -199171 Simple 201848494 G . Uncertain significance 2 2 not specified 2015-11-05 -0.51 2.5 Uncertain significance 0 -199181 Simple 34337578 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-12 -2.34 1.125 Uncertain significance 0 -199183 Simple 377385507 - . Benign 2 3 Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified 2017-07-19 -16.2 1.6666666666666667 Benign/Likely benign 1 -199191 Simple 142535134 T . Benign/Likely benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -199193 Simple 144393177 T . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-05-14 -0.54 2.0 Uncertain significance 0 -199197 Simple 11554412 G . Benign/Likely benign 2 4 Joubert syndrome 8;not specified;not provided 2017-07-19 -14.4 1.25 Benign/Likely benign 0 -199206 Simple 535299168 - . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -199215 Simple 794727985 A . Uncertain significance 2 2 not specified;RYR1-Related Disorders 2017-03-07 -0.54 1.5 Uncertain significance 0 -199216 Simple 796065337 T . Uncertain significance 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-05-17 -2.04 1.1428571428571428 Uncertain significance 0 -199223 Simple 201886728 T . Uncertain significance 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-09-25 -1.14 1.0 Uncertain significance 0 -199235 Simple 151184052 T . Likely benign 2 2 not specified 2016-11-04 -5.7 1.5 Likely benign 0 -199237 Simple 201629205 A . Benign/Likely benign 2 2 not specified;RYR1-Related Disorders 2017-03-26 -8.4 1.5 Benign/Likely benign 0 -199238 Simple 114364265 T . Benign/Likely benign 2 2 not specified;Macular degeneration 2016-06-14 -7.8 2.0 Likely benign 1 -199239 Simple 114629728 T . Benign/Likely benign 2 2 not specified;Macular degeneration 2016-06-14 -7.8 2.0 Likely benign 1 -199242 Simple 140808099 G . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-05 -25.8 1.0 Benign 1 -199243 Simple 796065338 TT . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-06-12 -7.8 1.5 Likely benign 1 -199247 Simple 117070973 C . Benign/Likely benign 2 5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified;not provided 2017-07-14 -19.8 1.0 Benign/Likely benign 0 -199666 Simple 794728021 T . Pathogenic 2 2 Aortic aneurysm, familial thoracic 6;not provided 2017-07-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -199670 Simple 112602953 T . Pathogenic 2 2 Aortic aneurysm, familial thoracic 6;not provided 2017-10-27 12.0 0.0 Pathogenic/Likely pathogenic 1 -199672 Simple 794728026 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 6;not specified 2017-07-25 -0.6 0.5 Uncertain significance 0 -199674 Simple 794728027 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 6;not specified 2017-09-11 -0.6 0.5 Uncertain significance 0 -199680 Simple 6702590 G . Benign 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-21 -18.0 0.6666666666666666 Benign/Likely benign 1 -199685 Simple 35708442 A . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified;Malignant hyperthermia 2017-08-01 -17.4 1.0 Benign/Likely benign 0 -199689 Simple 141241764 G . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-07-14 -7.8 1.5 Likely benign 1 -199692 Simple 371934572 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 4;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -199696 Simple 41263751 A . Benign 2 3 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-17 -15.6 2.0 Benign/Likely benign 1 -199697 Simple 41263765 C . Benign 2 3 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-17 -15.6 2.0 Benign/Likely benign 1 -199701 Simple 371344739 G . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 4;not specified 2017-08-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -199702 Simple 112164939 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-07-18 -5.7 1.0 Likely benign 0 -199703 Simple 767971610 - . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection 2016-06-14 -7.2 2.5 Likely benign 1 -199705 Simple 138061246 - . Benign 2 1 Thoracic aortic aneurysm and aortic dissection;not specified 2013-01-17 . 5.0 . 0 -199706 Simple 35759441 T . Benign 2 3 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-17 -15.6 2.0 Benign/Likely benign 1 -199708 Simple 376603102 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-09-22 -0.6 0.0 Uncertain significance 0 -199718 Simple 200394946 T . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-25 -0.87 1.0 Uncertain significance 0 -199726 Simple 1801183 A . Benign/Likely benign 2 6 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified;not provided 2017-08-29 -28.8 1.0 Benign 1 -199727 Simple 1801183 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-01 -12.0 0.3333333333333333 Benign/Likely benign 0 -199732 Simple 794728052 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 4;not specified 2016-03-27 -0.51 2.5 Uncertain significance 0 -199742 Simple 112371422 G . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-01-03 -0.6 1.0 Uncertain significance 0 -199773 Simple 749174176 G . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2017-05-19 -0.5700000000000001 1.0 Uncertain significance 0 -199776 Simple 762556795 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2017-04-20 -0.6 0.5 Uncertain significance 0 -199777 Simple 568391206 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2016-09-23 -0.6 1.0 Uncertain significance 0 -199781 Simple 371443698 A . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2017-03-17 -16.8 1.3333333333333333 Benign/Likely benign 1 -199804 Simple 751012696 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-04-18 -0.6 0.5 Uncertain significance 0 -199806 Simple 794728085 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2016-09-23 -0.6 1.0 Uncertain significance 0 -199817 Simple 121913010 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2016-09-22 -0.5700000000000001 1.5 Uncertain significance 0 -199821 Simple 767538450 T . Uncertain significance 2 2 not specified 2016-06-16 -0.54 2.0 Uncertain significance 0 -199826 Simple 794728095 - . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2016-10-27 -0.6 1.0 Uncertain significance 0 -199827 Simple 1131692278 - . Pathogenic/Likely pathogenic 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 10;Primary dilated cardiomyopathy;Dilated cardiomyopathy 1BB;Cardiovascular phenotype 2017-07-25 13.8 1.5 Pathogenic/Likely pathogenic 0 -199828 Simple 763948986 A . Uncertain significance 2 3 not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -199829 Simple 780374242 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-09-18 -0.51 2.0 Uncertain significance 0 -199836 Simple 138226280 A . Benign/Likely benign 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-07-13 -7.8 1.5 Likely benign 1 -199838 Simple 375412541 G . Benign/Likely benign 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-04-12 -7.8 2.0 Likely benign 1 -199839 Simple 151115778 A . Uncertain significance 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy;Dilated cardiomyopathy 1S;not specified 2017-10-31 -0.87 0.6666666666666666 Uncertain significance 0 -199843 Simple 794728103 A . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -199844 Simple 794728104 G . Uncertain significance 2 2 not specified 2016-08-01 -0.5700000000000001 1.5 Uncertain significance 0 -199851 Simple 377507763 T . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-08-25 -0.6 0.0 Uncertain significance 0 -199870 Simple 111368396 A . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-08-08 -0.54 1.5 Uncertain significance 0 -199872 Simple 751067479 G . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-08-28 -0.6 0.0 Uncertain significance 0 -199878 Simple 794728120 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-11-07 -0.51 2.5 Uncertain significance 0 -199886 Simple 794728122 G . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-04-07 -0.6 0.5 Uncertain significance 0 -199887 Simple 144106775 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;not specified 2015-06-08 -0.51 2.5 Uncertain significance 0 -199895 Simple 140663822 G . Uncertain significance 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2016-06-14 -1.41 1.6 Uncertain significance 0 -199900 Simple 574637009 A . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided 2016-05-26 -0.51 2.5 Uncertain significance 0 -199901 Simple 372393122 A . Uncertain significance 2 2 not specified 2015-12-10 -0.51 2.5 Uncertain significance 0 -199904 Simple 146642551 A . Uncertain significance 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2016-06-14 -1.5 1.0 Uncertain significance 0 -199916 Simple 794728137 GG . Pathogenic/Likely pathogenic 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Keratosis palmoplantaris striata II;not provided;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 2017-08-11 12.0 0.0 Pathogenic/Likely pathogenic 0 -199923 Simple 794728144 AAATCGAAAATCGA . Pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided 2017-07-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -199935 Simple 749820299 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-08-30 -0.5700000000000001 1.0 Uncertain significance 0 -199944 Simple 730880091 - . Uncertain significance 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Primary familial hypertrophic cardiomyopathy;not specified 2017-01-13 -0.87 1.3333333333333333 Uncertain significance 0 -199946 Simple 200368037 G . Benign/Likely benign 2 7 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;not specified;Geleophysic dysplasia 2016-06-14 -22.8 1.2857142857142858 Benign/Likely benign 0 -199947 Simple 138438849 C . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-12 -0.6 0.0 Uncertain significance 0 -199950 Simple 202158568 C . Benign/Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2016-06-14 -28.8 1.2222222222222223 Benign 1 -199951 Simple 2229326 G . Benign/Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-03-02 -7.8 2.0 Likely benign 1 -199952 Simple 1005074 A . Benign/Likely benign 2 13 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-04-17 -51.6 1.2307692307692308 Benign 1 -199954 Simple 370096856 G . Likely benign 2 10 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2016-08-15 -29.4 1.2 Benign 2 -199963 Simple 794728165 A . Pathogenic 2 2 Marfan syndrome;not provided 2017-08-17 12.0 0.5 Pathogenic/Likely pathogenic 1 -199973 Simple 794728171 C . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-03-23 -0.48 2.5 Uncertain significance 0 -199975 Simple 113422242 A . Pathogenic 2 3 Thoracic aortic aneurysm and aortic dissection;not specified;not provided 2017-01-06 17.4 1.3333333333333333 Pathogenic 0 -199977 Simple 794728174 C . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2016-09-05 7.2 2.5 Likely pathogenic 1 -200008 Simple 794728199 T . Pathogenic/Likely pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-07-24 12.0 0.0 Pathogenic/Likely pathogenic 0 -200015 Simple 794728203 C . Pathogenic/Likely pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2017-06-09 8.7 1.0 Pathogenic/Likely pathogenic 0 -200024 Simple 573187346 T . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-10-18 -0.6 0.0 Uncertain significance 0 -200029 Simple 762400500 T . Uncertain significance 2 4 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Dental crowding;Thoracic aortic Aneurysm and dissection (TAAD);Arachnodactyly;Dolichocephaly;Joint hypermobility;Aortic regurgitation;High, narrow palate 2017-07-21 -1.17 0.75 Uncertain significance 0 -200041 Simple 767606368 C . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-07-13 -0.6 0.5 Uncertain significance 0 -200044 Simple 370161725 C . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-08-30 -0.6 1.0 Uncertain significance 0 -200052 Simple 794728228 A . Pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-01 18.0 0.3333333333333333 Pathogenic 0 -200054 Simple 776625874 G . Uncertain significance 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-09-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -200066 Simple 794728237 T . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-11 7.8 1.5 Likely pathogenic 1 -200074 Simple 571365493 A . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-04-05 -0.6 0.5 Uncertain significance 0 -200076 Simple 763091520 A . Pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-11-06 16.8 1.3333333333333333 Pathogenic 0 -200084 Simple 76702162 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-11-18 -0.51 2.5 Uncertain significance 0 -200101 Simple 794728263 C . Uncertain significance 2 2 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-03-30 -0.51 2.5 Uncertain significance 0 -200106 Simple 794728266 T . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2016-03-11 6.6 3.0 Likely pathogenic 1 -200114 Simple 767602851 C . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-05-17 -0.51 2.0 Uncertain significance 0 -200115 Simple 794728272 G . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-06-20 9.0 0.5 Pathogenic/Likely pathogenic 0 -200124 Simple 763173031 C . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-22 -0.6 0.0 Uncertain significance 0 -200125 Simple 794728281 A . Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-06-05 6.0 0.5 Likely pathogenic 0 -200127 Simple 794728283 A . Likely pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-03-03 8.1 2.0 Likely pathogenic 0 -200132 Simple 148741353 C . Uncertain significance 2 2 not specified 2016-10-13 -0.6 1.0 Uncertain significance 0 -200141 Simple 112660651 T . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-06-26 9.0 0.5 Pathogenic/Likely pathogenic 0 -200171 Simple 794728319 - . Pathogenic 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-02-15 17.4 1.3333333333333333 Pathogenic 0 -200178 Simple 139968089 T . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-03-04 -0.54 2.0 Uncertain significance 0 -200179 Simple 794728326 C . Pathogenic 2 3 Marfan syndrome;not specified;not provided 2016-11-15 16.8 1.6666666666666667 Pathogenic 0 -200186 Simple 140630 A . Pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2017-01-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -200190 Simple 773204216 T . Uncertain significance 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-04 -0.78 2.0 Uncertain significance 0 -200191 Simple 794728334 T . Pathogenic/Likely pathogenic 2 2 not specified;not provided 2016-09-07 7.8 2.0 Likely pathogenic 1 -200193 Simple 794728251 A . Likely pathogenic 2 2 Marfan syndrome;not provided 2017-08-01 6.0 0.5 Likely pathogenic 0 -200211 Simple 776541110 T . Uncertain significance 2 2 Long QT syndrome;not specified 2016-09-14 -0.6 1.0 Uncertain significance 0 -200214 Simple 139533994 A . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-07-20 -6.6 2.5 Likely benign 1 -200224 Simple 150275982 T . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2016-12-15 -12.3 2.6666666666666665 Benign/Likely benign 0 -200228 Simple 1805121 C . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2016-06-14 -10.8 3.3333333333333335 Benign/Likely benign 0 -200230 Simple 1137617 G . Benign/Likely benign 2 5 Long QT syndrome;not specified;Cardiovascular phenotype 2017-06-29 -23.4 2.0 Benign/Likely benign 0 -200250 Simple 75005975 T . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-06-06 -7.2 2.0 Likely benign 1 -200252 Simple 368954514 A . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-04-17 -7.8 1.5 Likely benign 1 -200266 Simple 41313749 - . Benign/Likely benign 2 4 Long QT syndrome;not specified 2017-07-28 -19.2 1.25 Benign/Likely benign 0 -200282 Simple 794728353 G . Uncertain significance 2 2 Long QT syndrome 2;not specified 2015-08-07 -0.48 3.0 Uncertain significance 0 -200293 Simple 794728356 A . Uncertain significance 2 2 Long QT syndrome;not specified 2016-08-10 -0.51 2.5 Uncertain significance 0 -200315 Simple 747437736 T . Uncertain significance 2 2 Long QT syndrome;not specified 2016-12-27 -0.51 2.5 Uncertain significance 0 -200342 Simple 562875924 T . Uncertain significance 2 2 Long QT syndrome;not specified 2017-04-13 -0.5700000000000001 1.0 Uncertain significance 0 -200344 Simple 374376640 T . Likely benign 2 2 not specified 2017-01-05 -6.0 1.0 Likely benign 0 -200400 Simple 794728380 G . Pathogenic 2 2 Long QT syndrome;not provided 2017-04-28 12.0 0.5 Pathogenic/Likely pathogenic 1 -200473 Simple 763031434 A . Uncertain significance 2 2 Brugada syndrome 1;not specified 2017-02-09 -0.51 2.5 Uncertain significance 0 -200501 Simple 794728399 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-03-26 -0.6 0.5 Uncertain significance 0 -200513 Simple 794728401 T . Pathogenic 2 2 Long QT syndrome;not provided 2016-03-04 10.8 2.0 Pathogenic/Likely pathogenic 1 -200518 Simple 794728403 A . Pathogenic 2 2 Long QT syndrome;not provided 2016-12-25 12.0 1.0 Pathogenic/Likely pathogenic 1 -200534 Simple 531460655 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-07-20 -0.6 0.5 Uncertain significance 0 -200592 Simple 775317201 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-04-21 -0.6 0.5 Uncertain significance 0 -200598 Simple 767521596 - . Pathogenic 2 2 Long QT syndrome 2;not provided 2015-11-05 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -200612 Simple 794728425 . . Pathogenic 2 2 Cardiac arrhythmia;Long QT syndrome 2017-03-07 10.2 2.0 Pathogenic/Likely pathogenic 1 -200646 Simple 794728442 - . Likely pathogenic 2 2 Long QT syndrome;not provided 2017-01-03 6.0 1.0 Likely pathogenic 0 -200654 Simple 794728446 - . Pathogenic 2 2 Long QT syndrome 2;not provided 2017-07-04 9.6 2.5 Pathogenic/Likely pathogenic 1 -200672 Simple 794728455 CC . Pathogenic 2 3 Long QT syndrome;not provided;Cardiovascular phenotype 2017-07-25 18.0 0.6666666666666666 Pathogenic 0 -200693 Simple 748706373 - . Pathogenic 2 3 Long QT syndrome;not provided;Cardiovascular phenotype 2017-04-13 18.0 0.6666666666666666 Pathogenic 0 -200701 Simple 794728468 - . Pathogenic 2 2 Long QT syndrome;not provided 2017-06-30 9.6 2.5 Pathogenic/Likely pathogenic 1 -200705 Simple 794728470 CGTCGCCCCGTCGCCC . Pathogenic 2 2 Cardiac arrhythmia;Long QT syndrome 2016-02-18 9.0 3.5 Pathogenic/Likely pathogenic 1 -200799 Simple 794728504 - . Pathogenic 2 2 Long QT syndrome;not provided 2017-07-06 12.0 0.5 Pathogenic/Likely pathogenic 1 -200801 Simple 794728505 - . Pathogenic 2 2 Long QT syndrome;not provided 2017-03-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -200811 Simple 1805118 A . Benign/Likely benign 2 8 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2017-03-13 -27.6 1.625 Benign 1 -200812 Simple 370676650 G . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-05-12 -7.8 1.5 Likely benign 1 -200825 Simple 794728515 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-02-02 -0.6 1.0 Uncertain significance 0 -200848 Simple 794728529 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-02-10 -0.39 4.5 Uncertain significance 0 -200851 Simple 794728531 A . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided 2017-10-24 9.0 0.5 Pathogenic/Likely pathogenic 0 -200856 Simple 794728536 T . Pathogenic/Likely pathogenic 2 2 Long QT syndrome 1;not provided 2014-07-18 5.4 4.5 Likely pathogenic 1 -200874 Simple 762814879 A . Pathogenic 2 2 Long QT syndrome;not provided 2017-01-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -200915 Simple 794728583 TT . Pathogenic 2 2 Long QT syndrome 1;not provided 2017-05-08 10.8 1.5 Pathogenic/Likely pathogenic 1 -200916 Simple 5930 G . Benign/Likely benign 2 5 Familial hypercholesterolemia;not specified 2017-05-30 -25.8 1.2 Benign 1 -200917 Simple 688 T . Benign/Likely benign 2 5 Familial hypercholesterolemia;not specified 2017-06-22 -25.8 1.2 Benign 1 -200918 Simple 752596535 A . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia 2017-03-30 35.4 1.0 Pathogenic 1 -200919 Simple 376459828 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 14.7 1.0 Pathogenic/Likely pathogenic 0 -200923 Simple 375009082 A . Uncertain significance 2 3 Familial hypercholesterolemia;not specified 2017-01-24 -0.8999999999999999 1.0 Uncertain significance 0 -200934 Simple 60864230 A . Likely pathogenic 2 2 Charcot-Marie-Tooth disease, type 2;not provided 2017-07-17 6.0 0.0 Likely pathogenic 0 -200939 Simple 267607623 T . Pathogenic/Likely pathogenic 2 3 Charcot-Marie-Tooth disease, type 2;not provided;Cardiovascular phenotype 2017-08-16 13.5 2.0 Pathogenic/Likely pathogenic 0 -200941 Simple 794728593 A . Pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-10-10 11.4 1.0 Pathogenic/Likely pathogenic 1 -200947 Simple 794728597 - . Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2015-12-18 5.4 2.0 Likely pathogenic 0 -200949 Simple 794728598 T . Pathogenic/Likely pathogenic 2 2 not provided 2017-04-28 9.0 0.5 Pathogenic/Likely pathogenic 0 -200959 Simple 59564495 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2015-01-08 6.6 3.5 Likely pathogenic 1 -200963 Simple 794728612 TC . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2017-03-24 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -200964 Simple 757041809 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-04-05 -0.6 0.5 Uncertain significance 0 -200967 Simple 773169005 T . Uncertain significance 2 2 not specified 2016-04-20 -0.54 2.0 Uncertain significance 0 -200970 Simple 794728615 A . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-10-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -200973 Simple 794728618 A . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-14 6.0 0.5 Likely pathogenic 0 -200975 Simple 376872829 G . Likely pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-28 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -200976 Simple 794728620 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1 2017-02-23 -0.6 1.0 Uncertain significance 0 -200981 Simple 794728625 T . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not specified;not provided 2017-01-13 18.0 1.0 Pathogenic 0 -200987 Simple 745404679 A . Uncertain significance 2 3 Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.87 0.6666666666666666 Uncertain significance 0 -200988 Simple 794728631 A . Pathogenic/Likely pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-03-17 13.2 1.6666666666666667 Pathogenic/Likely pathogenic 0 -200991 Simple 794728634 G . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-08-30 5.7 1.5 Likely pathogenic 0 -200996 Simple 794728639 - . Pathogenic 2 4 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-09-28 24.0 0.25 Pathogenic 0 -200997 Simple 794728640 - . Pathogenic 2 4 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-09-07 24.0 0.5 Pathogenic 0 -200999 Simple 794728642 - . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;not provided 2017-11-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -201006 Simple 794728647 A . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-27 18.0 0.0 Pathogenic 0 -201012 Simple 386134259 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-04 -0.54 1.5 Uncertain significance 0 -201019 Simple 794728657 - . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-05 17.4 1.0 Pathogenic 0 -201021 Simple 794728659 ACAC . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-02-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -201027 Simple 112657320 T . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-07-09 -6.0 0.5 Likely benign 0 -201028 Simple 772621139 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-10-06 -0.6 0.5 Uncertain significance 0 -201034 Simple 543763112 - . Benign 2 2 not specified 2016-03-16 -10.8 2.0 Benign/Likely benign 1 -201037 Simple 138059405 T . Uncertain significance 2 6 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2017-08-24 -1.77 0.6666666666666666 Uncertain significance 0 -201038 Simple 190675029 A . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-07-24 -7.8 1.5 Likely benign 1 -201040 Simple 774568111 - . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2017-07-06 -6.6 2.5 Likely benign 1 -201042 Simple 111588143 C . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2016-12-25 -5.4 2.0 Likely benign 0 -201043 Simple 149529195 A . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-07-27 -13.2 2.0 Benign/Likely benign 0 -201050 Simple 769321167 - . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2017-03-15 -7.2 2.0 Likely benign 1 -201054 Simple 148893135 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-04-28 -0.6 0.0 Uncertain significance 0 -201057 Simple 142128375 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-24 -0.6 0.5 Uncertain significance 0 -201058 Simple 113696032 A . Uncertain significance 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-10-20 -0.8999999999999999 0.0 Uncertain significance 0 -201061 Simple 147605116 A . Uncertain significance 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-26 -0.84 1.3333333333333333 Uncertain significance 0 -201062 Simple 202004234 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2016-03-28 -0.5700000000000001 1.5 Uncertain significance 0 -201063 Simple 201391947 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -201065 Simple 746615097 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified;Aortic dilatation 2017-05-31 -0.5700000000000001 1.5 Uncertain significance 0 -201070 Simple 150033906 C . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-08 -0.5700000000000001 1.5 Uncertain significance 0 -201071 Simple 374271463 T . Uncertain significance 2 3 Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -201079 Simple 369751362 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-03-20 -0.6 0.5 Uncertain significance 0 -201081 Simple 144813247 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-05-11 -0.51 2.0 Uncertain significance 0 -201083 Simple 752996609 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2016-09-02 -0.5700000000000001 1.5 Uncertain significance 0 -201086 Simple 145252402 G . Uncertain significance 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-01 -0.8999999999999999 0.0 Uncertain significance 0 -201090 Simple 369950711 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-03 -0.5700000000000001 1.5 Uncertain significance 0 -201095 Simple 147447269 G . Uncertain significance 2 4 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-01-26 -1.14 1.5 Uncertain significance 0 -201101 Simple 112992497 T . Uncertain significance 2 3 Aortic aneurysm, familial thoracic 4;not specified 2017-10-27 -0.87 1.0 Uncertain significance 0 -201103 Simple 185661462 C . Benign 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-12 -18.0 0.3333333333333333 Benign/Likely benign 1 -201110 Simple 794728676 CGT . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-01-26 -0.5700000000000001 1.5 Uncertain significance 0 -201116 Simple 148938946 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-03-04 -0.48 3.0 Uncertain significance 0 -201124 Simple 562556 A . Benign/Likely benign 2 5 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-22 -22.8 1.2 Benign/Likely benign 0 -201125 Simple 201527155 G . Uncertain significance 2 3 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-06-13 -0.87 0.6666666666666666 Uncertain significance 0 -201126 Simple 540796 G . Benign/Likely benign 2 4 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-22 -17.4 1.0 Benign/Likely benign 0 -201136 Simple 532862288 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;not specified 2017-03-30 -0.6 0.5 Uncertain significance 0 -201142 Simple 794728692 A . Uncertain significance 2 2 not specified;RYR1-Related Disorders 2016-07-08 -0.5700000000000001 1.5 Uncertain significance 0 -201150 Simple 774603798 T . Uncertain significance 2 2 not specified;not provided 2017-05-03 -0.6 0.5 Uncertain significance 0 -201152 Simple 794728696 T . Uncertain significance 2 3 not specified;Inborn genetic diseases;RYR1-Related Disorders 2017-06-07 -0.78 2.0 Uncertain significance 0 -201162 Simple 762905211 G . Benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-07-18 -10.8 2.0 Benign/Likely benign 1 -201167 Simple 750335699 T . Benign/Likely benign 2 3 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2016-03-08 -12.9 2.6666666666666665 Benign/Likely benign 0 -201178 Simple 563219502 C . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2015-12-31 -7.5 2.5 Likely benign 1 -201179 Simple 371147744 A . Uncertain significance 2 4 not specified;Inborn genetic diseases;Catecholaminergic polymorphic ventricular tachycardia 2017-01-29 -1.1099999999999999 1.75 Uncertain significance 0 -201183 Simple 377293019 A . Benign/Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-02-15 -7.8 2.0 Likely benign 1 -201194 Simple 794728708 A . Pathogenic/Likely pathogenic 2 4 Catecholaminergic polymorphic ventricular tachycardia type 1;not provided;Catecholaminergic polymorphic ventricular tachycardia 2017-03-21 19.8 1.25 Pathogenic 1 -201209 Simple 370057029 A . Uncertain significance 2 2 Catecholaminergic polymorphic ventricular tachycardia type 1;not specified 2015-06-17 -0.48 3.0 Uncertain significance 0 -201212 Simple 764698152 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-07-21 -0.6 0.5 Uncertain significance 0 -201214 Simple 190140598 T . Pathogenic 2 4 Arrhythmogenic right ventricular dysplasia, familial, 2;Catecholaminergic polymorphic ventricular tachycardia type 1;not provided;Ventricular fibrillation;Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2;Catecholaminergic polymorphic ventricular tachycardia 2017-05-18 22.8 1.0 Pathogenic 0 -201225 Simple 2009813 G . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-11-02 -0.48 3.0 Uncertain significance 0 -201233 Simple 794728731 T . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-02-28 -0.54 2.0 Uncertain significance 0 -201253 Simple 749434532 T . Uncertain significance 2 2 not specified 2016-01-25 -0.54 2.0 Uncertain significance 0 -201255 Simple 770863319 T . Uncertain significance 2 2 not specified 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -201276 Simple 794728753 A . Likely pathogenic 2 2 not provided;Catecholaminergic polymorphic ventricular tachycardia 2017-02-07 5.7 1.5 Likely pathogenic 0 -201279 Simple 794728756 A . Likely pathogenic 2 3 Catecholaminergic polymorphic ventricular tachycardia type 1;not provided;Cardiovascular phenotype 2017-06-27 8.7 1.0 Pathogenic/Likely pathogenic 1 -201283 Simple 377473366 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-20 -0.5700000000000001 1.0 Uncertain significance 0 -201284 Simple 768547151 T . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-09-21 -0.6 0.5 Uncertain significance 0 -201289 Simple 794728761 C . Uncertain significance 2 2 Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-02-07 -0.51 2.5 Uncertain significance 0 -201290 Simple 370141970 G . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -0.78 2.3333333333333335 Uncertain significance 0 -201302 Simple 201749277 A . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-09-08 -0.84 1.3333333333333333 Uncertain significance 0 -201312 Simple 768711283 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-09-29 -0.6 0.0 Uncertain significance 0 -201315 Simple 794728777 A . Pathogenic 2 2 not provided;Catecholaminergic polymorphic ventricular tachycardia 2017-05-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -201343 Simple 794728795 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-08-31 -0.6 0.5 Uncertain significance 0 -201348 Simple 748501600 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2013-10-30 -0.36 5.0 Uncertain significance 0 -201357 Simple 794728804 A . Pathogenic/Likely pathogenic 2 3 not provided;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-04-27 15.0 0.6666666666666666 Pathogenic 1 -201365 Simple 794728811 A . Pathogenic 2 2 Catecholaminergic polymorphic ventricular tachycardia type 1;not provided 2017-03-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -201371 Simple 772984053 A . Uncertain significance 2 2 not specified 2017-09-08 -0.6 0.5 Uncertain significance 0 -201374 Simple 752144775 A . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia 2016-12-08 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -201395 Simple 368064371 C . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-15 -0.54 1.5 Uncertain significance 0 -201417 Simple 766696979 C . Benign/Likely benign 2 2 Brugada syndrome;not specified 2016-11-24 -7.8 2.0 Likely benign 1 -201420 Simple 376734571 T . Benign 2 2 Brugada syndrome;not specified 2017-07-28 -10.8 1.5 Benign/Likely benign 1 -201421 Simple 370990219 T . Benign/Likely benign 2 2 Brugada syndrome;not specified 2017-06-05 -8.4 1.0 Benign/Likely benign 0 -201423 Simple 376150162 T . Benign/Likely benign 2 2 Brugada syndrome;not specified 2017-02-06 -7.8 2.0 Likely benign 1 -201424 Simple 375254452 A . Benign/Likely benign 2 3 Brugada syndrome;not specified 2017-05-02 -10.5 1.6666666666666667 Benign/Likely benign 0 -201427 Simple 794728843 T . Pathogenic/Likely pathogenic 2 3 Brugada syndrome 1;Brugada syndrome;not provided 2017-05-24 15.0 0.3333333333333333 Pathogenic 1 -201438 Simple 794728849 A . Pathogenic 2 2 Brugada syndrome;not provided 2017-07-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -201444 Simple 752824646 T . Uncertain significance 2 8 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-01-20 -2.4 1.0 Uncertain significance 0 -201445 Simple 794728852 T . Uncertain significance 2 3 Brugada syndrome;not specified 2016-12-16 -0.87 1.3333333333333333 Uncertain significance 0 -201446 Simple 794728853 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-05-11 -0.51 2.0 Uncertain significance 0 -201458 Simple 3918389 A . Uncertain significance 2 2 Brugada syndrome;not specified 2016-09-12 -0.6 1.0 Uncertain significance 0 -201461 Simple 757119370 A . Uncertain significance 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-07-13 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -201462 Simple 777061524 A . Uncertain significance 2 2 Brugada syndrome;not specified 2016-01-01 -0.48 3.0 Uncertain significance 0 -201475 Simple 794728865 A . Pathogenic 2 2 Brugada syndrome;not provided 2017-07-10 11.4 1.0 Pathogenic/Likely pathogenic 1 -201483 Simple 753149586 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-06-29 -0.6 0.5 Uncertain significance 0 -201484 Simple 794728871 A . Uncertain significance 2 2 not specified 2017-02-08 -0.6 1.0 Uncertain significance 0 -201485 Simple 561547165 A . Uncertain significance 2 8 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2016-11-28 -2.4 1.0 Uncertain significance 0 -201486 Simple 768691853 A . Uncertain significance 2 2 Brugada syndrome;not specified 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -201489 Simple 755980331 A . Uncertain significance 2 2 Brugada syndrome;not specified 2017-07-28 -0.54 1.5 Uncertain significance 0 -201497 Simple 192379242 A . Uncertain significance 2 3 Long QT syndrome 3;Brugada syndrome;not specified 2017-06-28 -0.87 1.0 Uncertain significance 0 -201506 Simple 775485359 C . Uncertain significance 2 8 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-03-08 -2.4 0.875 Uncertain significance 0 -201508 Simple 794728879 G . Pathogenic/Likely pathogenic 2 2 Brugada syndrome;not provided 2017-06-30 9.0 0.0 Pathogenic/Likely pathogenic 0 -201514 Simple 794728883 G . Uncertain significance 2 2 Brugada syndrome;not specified 2017-02-09 -0.6 1.0 Uncertain significance 0 -201523 Simple 199473292 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-03-06 -0.6 0.5 Uncertain significance 0 -201531 Simple 763880032 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-04-28 -0.6 0.5 Uncertain significance 0 -201539 Simple 774593360 T . Uncertain significance 2 2 Brugada syndrome;not specified 2016-12-19 -0.54 2.0 Uncertain significance 0 -201546 Simple 757532106 A . Likely pathogenic 2 2 not provided 2017-06-30 6.0 0.5 Likely pathogenic 0 -201551 Simple 759584454 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-07-25 -0.51 2.0 Uncertain significance 0 -201561 Simple 794728914 - . Pathogenic 2 2 Brugada syndrome;not provided 2017-07-11 11.4 1.0 Pathogenic/Likely pathogenic 1 -201563 Simple 794728916 - . Uncertain significance 2 2 Brugada syndrome;not specified 2016-02-14 -0.45 3.5 Uncertain significance 0 -201571 Simple 397514251 - . Pathogenic/Likely pathogenic 2 2 Long QT syndrome 3;Brugada syndrome;not provided 2017-02-10 9.0 1.0 Pathogenic/Likely pathogenic 0 -201573 Simple 794728924 - . Pathogenic/Likely pathogenic 2 3 Brugada syndrome;not provided;Cardiovascular phenotype 2017-09-22 12.0 0.0 Pathogenic/Likely pathogenic 0 -201574 Simple 794728925 G . Uncertain significance 2 2 Brugada syndrome;not specified 2017-05-14 -0.6 0.5 Uncertain significance 0 -201577 Simple 778522112 A . Uncertain significance 2 3 Brugada syndrome;not specified 2017-07-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -201579 Simple 756474485 T . Uncertain significance 2 3 Brugada syndrome;not specified 2017-05-30 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -201589 Simple 780405533 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-11-09 -0.6 0.5 Uncertain significance 0 -201604 Simple 794728947 GG . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-08-31 10.2 2.5 Pathogenic/Likely pathogenic 1 -201606 Simple 794728949 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-01-06 10.2 2.5 Pathogenic/Likely pathogenic 1 -201626 Simple 794728959 C . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-05-23 -0.51 2.0 Uncertain significance 0 -201627 Simple 777124854 A . Uncertain significance 2 3 Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype 2016-01-11 -0.78 2.3333333333333335 Uncertain significance 0 -201632 Simple 754929573 A . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2015-11-19 -0.54 2.0 Uncertain significance 0 -201633 Simple 794728964 G . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2016-11-06 -0.48 3.0 Uncertain significance 0 -201634 Simple 794728965 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-02-20 -0.48 3.0 Uncertain significance 0 -201643 Simple 794728968 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -201647 Simple 777744290 A . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2015-12-03 -0.75 2.6666666666666665 Uncertain significance 0 -201651 Simple 199920384 G . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2016-12-08 -0.6 1.0 Uncertain significance 0 -201659 Simple 148979787 T . Benign 2 2 ANKRD1-related dilated cardiomyopathy;not specified 2017-02-20 -10.8 2.0 Benign/Likely benign 1 -201661 Simple 3839929 - . Benign/Likely benign 2 2 not specified;Dilated Cardiomyopathy, Dominant 2017-07-02 -9.0 0.5 Benign/Likely benign 0 -201668 Simple 754657888 C . Uncertain significance 2 3 ANKRD1-related dilated cardiomyopathy;not specified;Dilated Cardiomyopathy, Dominant 2017-04-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -201670 Simple 776659587 TT . Uncertain significance 2 4 ANKRD1-related dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-06-12 -1.1099999999999999 1.25 Uncertain significance 0 -201676 Simple 78439745 A . Benign/Likely benign 2 5 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-24 -18.0 0.6 Benign/Likely benign 0 -201683 Simple 376832654 T . Uncertain significance 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2016-11-24 -0.54 2.0 Uncertain significance 0 -201686 Simple 794728981 - . Pathogenic 2 2 not provided;Inborn genetic diseases 2014-05-29 9.0 3.5 Pathogenic/Likely pathogenic 1 -201690 Simple 144404101 A . Benign 2 1 not specified 2014-07-28 . 3.0 . 0 -201692 Simple 372717179 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified 2015-08-19 -0.54 2.0 Uncertain significance 0 -201694 Simple 746207 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -201695 Simple 111868331 G . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified 2017-02-20 -0.5700000000000001 1.5 Uncertain significance 0 -201698 Simple 184826121 A . Benign/Likely benign 2 5 Myofibrillar myopathy 1;not specified;Scapuloperoneal weakness;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -16.8 1.4 Benign/Likely benign 0 -201702 Simple 769647148 T . Uncertain significance 2 2 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2016-10-31 -0.6 1.0 Uncertain significance 0 -201705 Simple 794728987 T . Uncertain significance 2 2 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-03-14 -0.6 0.5 Uncertain significance 0 -201706 Simple 763903197 A . Uncertain significance 2 2 not specified 2017-08-21 -0.6 0.5 Uncertain significance 0 -201709 Simple 751942358 T . Uncertain significance 2 3 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-05-04 -0.87 1.0 Uncertain significance 0 -201712 Simple 794728990 A . Uncertain significance 2 3 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Cardiovascular phenotype 2016-04-10 -0.75 2.6666666666666665 Uncertain significance 0 -201713 Simple 578066781 C . Uncertain significance 2 3 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-09-07 -0.87 1.0 Uncertain significance 0 -201727 Simple 147694734 C . Benign/Likely benign 2 2 not specified 2016-12-27 -8.7 1.5 Benign/Likely benign 0 -201729 Simple 182708940 T . Benign/Likely benign 2 5 Duchenne muscular dystrophy;not specified;not provided 2017-04-17 -26.4 0.8 Benign 1 -201730 Simple 72468692 C . Benign/Likely benign 2 4 Duchenne muscular dystrophy;not specified;Cardiovascular phenotype 2017-07-31 -19.8 1.25 Benign/Likely benign 0 -201736 Simple 148135406 A . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 3B 2016-06-14 -0.54 2.0 Uncertain significance 0 -201749 Simple 147904018 A . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-06-10 -8.7 1.0 Benign/Likely benign 0 -201750 Simple 376234802 C . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-06-07 -0.6 0.0 Uncertain significance 0 -201755 Simple 367702968 T . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-04-24 -0.51 2.0 Uncertain significance 0 -201757 Simple 373475448 A . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2015-08-10 -0.51 2.5 Uncertain significance 0 -201762 Simple 190619495 C . Benign/Likely benign 2 2 Left ventricular noncompaction 1;not specified 2017-06-13 -8.7 1.0 Benign/Likely benign 0 -201765 Simple 201071018 T . Uncertain significance 2 2 not specified;Left ventricular noncompaction cardiomyopathy 2017-08-07 -0.6 0.5 Uncertain significance 0 -201771 Simple 144594695 A . Likely benign 2 3 Emery-Dreifuss muscular dystrophy 1, X-linked;not specified 2017-08-02 -8.7 0.6666666666666666 Benign/Likely benign 1 -201775 Simple 144842093 A . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 1, X-linked;not specified 2017-04-06 -0.6 0.5 Uncertain significance 0 -201785 Simple 139640491 C . Benign/Likely benign 2 2 Primary familial hypertrophic cardiomyopathy;Cardiomyopathy 2017-03-20 -8.4 1.5 Benign/Likely benign 0 -201797 Simple 767328866 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-03-31 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -201804 Simple 367563723 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-12-30 -0.51 2.5 Uncertain significance 0 -201811 Simple 375788626 T . Uncertain significance 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -201812 Simple 782284038 A . Uncertain significance 2 4 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiomyopathy, ARVC 2017-03-21 -1.14 1.25 Uncertain significance 0 -201819 Simple 199597864 T . Uncertain significance 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype 2017-03-16 -0.84 1.3333333333333333 Uncertain significance 0 -201825 Simple 368271628 T . Uncertain significance 2 2 not specified 2016-11-21 -0.5700000000000001 1.5 Uncertain significance 0 -201828 Simple 782547688 T . Uncertain significance 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2016-11-06 -0.6 1.0 Uncertain significance 0 -201849 Simple 147072071 C . Uncertain significance 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-03-02 -0.54 2.0 Uncertain significance 0 -201852 Simple 143764931 C . Uncertain significance 2 3 Myofibrillar myopathy, ZASP-related;not specified 2017-04-21 -0.87 1.0 Uncertain significance 0 -201854 Simple 747523570 A . Uncertain significance 2 2 not specified 2015-08-12 -0.45 3.5 Uncertain significance 0 -201857 Simple 367792378 T . Uncertain significance 2 3 Myofibrillar myopathy, ZASP-related;not specified;Hypertrophic cardiomyopathy 2017-04-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -201860 Simple 755513516 A . Uncertain significance 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-05-05 -0.54 1.5 Uncertain significance 0 -201861 Simple 201134349 T . Likely benign 2 3 Familial hypertrophic cardiomyopathy 1;not specified 2016-10-05 -8.1 2.0 Likely benign 0 -201863 Simple 765059037 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 1;not specified 2016-11-22 -0.6 1.0 Uncertain significance 0 -201870 Simple 147287437 G . Benign/Likely benign 2 2 not specified;Dilated cardiomyopathy 1KK 2017-11-07 -9.0 0.0 Benign/Likely benign 0 -201880 Simple 148034353 G . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1KK 2017-08-03 -0.54 1.5 Uncertain significance 0 -201881 Simple 146336815 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-04-03 -0.6 0.5 Uncertain significance 0 -201883 Simple 764775347 A . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1KK 2017-07-31 -0.6 0.5 Uncertain significance 0 -201895 Simple 138583865 T . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1KK 2017-09-13 -0.6 0.0 Uncertain significance 0 -201900 Simple 371620771 G . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2017-06-14 -0.54 1.5 Uncertain significance 0 -201919 Simple 199917913 T . Uncertain significance 2 3 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Cardiovascular phenotype 2016-11-26 -0.87 1.3333333333333333 Uncertain significance 0 -201924 Simple 200442502 T . Uncertain significance 2 2 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified 2017-05-23 -0.51 2.0 Uncertain significance 0 -201925 Simple 181520023 T . Uncertain significance 2 4 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-03-06 -1.2 0.75 Uncertain significance 0 -201929 Simple 201390657 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified 2017-07-11 -11.7 0.6666666666666666 Benign/Likely benign 0 -201940 Simple 794729091 - . Uncertain significance 2 3 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Cardiovascular phenotype 2017-06-27 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -201947 Simple 148256486 A . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-06-02 -7.8 1.5 Likely benign 1 -201950 Simple 146768859 A . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2016-11-23 -9.0 1.0 Benign/Likely benign 0 -201951 Simple 113792127 T . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-07-04 -13.5 1.6666666666666667 Benign/Likely benign 0 -201958 Simple 368531764 G . Benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2016-11-26 -10.8 2.0 Benign/Likely benign 1 -201960 Simple 768974835 T . Benign/Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-06-07 -7.8 1.5 Likely benign 1 -201962 Simple 768396351 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-06-05 -0.6 0.5 Uncertain significance 0 -201965 Simple 794729098 G . Pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided 2017-02-01 12.0 1.0 Pathogenic/Likely pathogenic 1 -201968 Simple 768808114 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-06-09 -0.6 0.5 Uncertain significance 0 -201969 Simple 794729101 C . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-07-31 -0.54 1.5 Uncertain significance 0 -201978 Simple 200069860 A . Uncertain significance 2 4 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Ventricular fibrillation;Cardiovascular phenotype 2017-01-27 -1.11 1.75 Uncertain significance 0 -201979 Simple 766209297 A . Pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy;not provided 2015-06-18 9.0 3.5 Pathogenic/Likely pathogenic 1 -201986 Simple 763749576 C . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiomyopathy, ARVC 2017-04-24 -0.84 1.3333333333333333 Uncertain significance 0 -201988 Simple 200343561 C . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -201991 Simple 774778142 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-01-19 -0.5700000000000001 1.5 Uncertain significance 0 -201999 Simple 370219248 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2016-09-23 -0.6 1.0 Uncertain significance 0 -202015 Simple 772220644 - . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided 2017-02-01 9.0 1.0 Pathogenic/Likely pathogenic 0 -202016 Simple 794729124 - . Pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided 2016-12-19 9.6 3.0 Pathogenic/Likely pathogenic 1 -202026 Simple 763639737 T . Pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided 2016-11-22 11.4 1.5 Pathogenic/Likely pathogenic 1 -202035 Simple 794729137 - . Pathogenic/Likely pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-05-30 14.7 1.0 Pathogenic/Likely pathogenic 0 -202043 Simple 116442272 T . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2017-05-22 -0.6 0.0 Uncertain significance 0 -202053 Simple 779777625 A . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2017-07-12 -0.54 1.5 Uncertain significance 0 -202057 Simple 369835514 T . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2017-05-12 -0.54 1.5 Uncertain significance 0 -202073 Simple 794729156 A . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2017-03-14 -0.54 1.5 Uncertain significance 0 -202081 Simple 767827357 A . Uncertain significance 2 3 Dilated cardiomyopathy 1DD;not specified;Dilated Cardiomyopathy, Dominant 2017-04-25 -0.84 1.3333333333333333 Uncertain significance 0 -202085 Simple 549319429 C . Benign/Likely benign 2 5 Delta-sarcoglycanopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-17 -17.4 1.0 Benign/Likely benign 0 -202087 Simple 200671745 G . Uncertain significance 2 3 Limb-girdle muscular dystrophy, type 2F;not specified 2017-07-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -202104 Simple 794729175 T . Uncertain significance 2 3 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified 2016-08-17 -0.8999999999999999 1.0 Uncertain significance 0 -202108 Simple 375310569 T . Uncertain significance 2 4 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified;not provided 2017-07-12 -1.17 1.0 Uncertain significance 0 -202119 Simple 367910936 T . Uncertain significance 2 2 not specified 2017-10-10 -0.6 0.5 Uncertain significance 0 -202124 Simple 368603914 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified 2017-04-27 -0.48 2.5 Uncertain significance 0 -202137 Simple 771185259 G . Uncertain significance 2 2 Loeys-Dietz syndrome 2;not specified 2016-12-21 -0.6 1.0 Uncertain significance 0 -202139 Simple 141387097 G . Likely benign 2 2 Loeys-Dietz syndrome 2;not specified 2017-10-02 -5.7 1.0 Likely benign 0 -202145 Simple 200733607 T . Benign 2 2 Dilated cardiomyopathy 1W;not specified 2017-06-29 -10.8 1.5 Benign/Likely benign 1 -202146 Simple 794729187 T . Uncertain significance 2 2 Dilated cardiomyopathy 1W;not specified 2017-03-24 -0.48 2.5 Uncertain significance 0 -202159 Simple 147957747 T . Uncertain significance 2 2 Dilated cardiomyopathy 1W;not specified 2017-06-10 -0.5700000000000001 1.0 Uncertain significance 0 -202161 Simple 794729191 T . Uncertain significance 2 2 Dilated cardiomyopathy 1W;not specified 2017-01-04 -0.6 1.0 Uncertain significance 0 -202204 Simple 794729229 A . Uncertain significance 2 3 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -202212 Simple 147810437 T . Benign/Likely benign 2 1 not specified 2017-01-06 . 1.0 . 0 -202264 Simple 528832388 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-24 -13.5 2.0 Benign/Likely benign 0 -202272 Simple 773148195 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-18 -7.8 1.5 Likely benign 1 -202275 Simple 750472100 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-04 -7.8 2.0 Likely benign 1 -202276 Simple 755839294 G . Benign/Likely benign 2 2 not specified 2016-12-23 -7.8 2.0 Likely benign 1 -202278 Simple 144639994 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-30 -7.8 1.5 Likely benign 1 -202281 Simple 561739832 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -16.2 1.75 Benign/Likely benign 0 -202282 Simple 773128928 A . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-18 -7.8 1.5 Likely benign 1 -202284 Simple 202180775 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2016-12-21 -9.6 3.0 Benign/Likely benign 0 -202287 Simple 201990196 - . Benign 2 1 not specified 2014-09-09 . 3.0 . 0 -202309 Simple 376080116 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2016-05-28 -4.8 3.0 Likely benign 0 -202324 Simple 180828370 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-03 -4.8 2.5 Likely benign 0 -202335 Simple 750213547 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -0.5700000000000001 1.0 Uncertain significance 0 -202337 Simple 369845358 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-10-21 -0.54 2.0 Uncertain significance 0 -202340 Simple 794729250 AA . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype 2017-08-08 -9.6 3.3333333333333335 Benign/Likely benign 0 -202358 Simple 763955552 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-10-20 -0.6 0.5 Uncertain significance 0 -202364 Simple 794729258 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-07-15 -0.6 1.0 Uncertain significance 0 -202374 Simple 794729263 A . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2016-10-29 7.2 2.5 Likely pathogenic 1 -202377 Simple 751502842 A . Pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2017-05-20 11.4 1.0 Pathogenic/Likely pathogenic 1 -202378 Simple 794729265 A . Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2014-10-08 4.2 4.0 Likely pathogenic 0 -202384 Simple 761807131 T . Likely pathogenic 2 2 Dilated cardiomyopathy 1G;Dilated cardiomyopathy 1S;not provided 2017-06-14 6.0 0.5 Likely pathogenic 0 -202402 Simple 781540455 A . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2017-05-22 9.0 0.0 Pathogenic/Likely pathogenic 0 -202405 Simple 794729285 A . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;not provided 2017-02-28 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -202409 Simple 794729289 A . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2J;not provided 2016-09-14 10.2 2.0 Pathogenic/Likely pathogenic 0 -202412 Simple 794729291 C . Likely pathogenic 2 6 Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2015-12-17 15.3 2.5 Pathogenic 2 -202424 Simple 794729301 A . Pathogenic/Likely pathogenic 2 2 Limb-girdle muscular dystrophy, type 2J;not provided 2017-03-13 9.0 0.5 Pathogenic/Likely pathogenic 0 -202428 Simple 112240298 T . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2015-01-26 6.6 3.5 Likely pathogenic 1 -202444 Simple 759525338 - . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Arrhythmogenic right ventricular dysplasia, familial 1;not specified;not provided 2017-03-27 -1.32 2.0 Uncertain significance 0 -202447 Simple 794729320 - . Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2015-05-15 4.5 3.5 Likely pathogenic 0 -202450 Simple 794729323 TCAATCAA . Pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2016-08-30 10.8 2.0 Pathogenic/Likely pathogenic 1 -202451 Simple 794729324 - . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-05-25 8.7 1.0 Pathogenic/Likely pathogenic 0 -202452 Simple 794729325 - . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2016-07-15 7.2 2.5 Likely pathogenic 1 -202457 Simple 794729330 GG . Pathogenic/Likely pathogenic 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2016-05-12 22.8 1.2857142857142858 Pathogenic 1 -202458 Simple 794729331 - . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2016-12-30 7.8 2.0 Likely pathogenic 1 -202463 Simple 794729336 - . Uncertain significance 2 2 not specified 2017-02-28 -0.6 1.0 Uncertain significance 0 -202495 Simple 794729365 TT . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2017-08-17 9.0 0.0 Pathogenic/Likely pathogenic 0 -202514 Simple 794729378 - . Uncertain significance 2 6 Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2016-08-24 -1.74 1.3333333333333333 Uncertain significance 0 -202518 Simple 368452607 A . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2014-10-16 7.199999999999999 3.0 Likely pathogenic 1 -202521 Simple 794729382 A . Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2017-07-25 6.0 0.0 Likely pathogenic 0 -202527 Simple 752745266 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-30 -6.0 1.0 Likely benign 0 -202546 Simple 563250569 - . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-18 -0.8999999999999999 1.0 Uncertain significance 0 -202547 Simple 794729399 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-10 -0.54 2.0 Uncertain significance 0 -202552 Simple 373651676 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-16 -0.54 1.5 Uncertain significance 0 -202555 Simple 373355159 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-24 -2.4 0.75 Uncertain significance 0 -202560 Simple 200831060 G . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.34 1.25 Uncertain significance 0 -202563 Simple 769226745 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-03 -0.78 2.3333333333333335 Uncertain significance 0 -202572 Simple 371538856 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-23 -0.51 2.5 Uncertain significance 0 -202581 Simple 377760800 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-10 -0.78 2.0 Uncertain significance 0 -202582 Simple 144531477 G . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-20 -2.37 1.0 Uncertain significance 0 -202583 Simple 794729412 T . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.48 2.5 Uncertain significance 0 -202588 Simple 201622536 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-16 -0.87 1.0 Uncertain significance 0 -202594 Simple 199561793 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-26 -0.54 1.5 Uncertain significance 0 -202595 Simple 794729416 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-01-10 -0.51 2.5 Uncertain significance 0 -202602 Simple 72650062 A . Uncertain significance 2 2 not specified 2017-02-02 -0.6 1.0 Uncertain significance 0 -202607 Simple 774503024 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2015-11-13 -0.51 2.5 Uncertain significance 0 -202608 Simple 749860520 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-14 -0.78 2.0 Uncertain significance 0 -202610 Simple 370048456 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-16 -0.51 2.0 Uncertain significance 0 -202616 Simple 72650078 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2015-10-31 -0.54 2.0 Uncertain significance 0 -202619 Simple 763668057 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -202628 Simple 727505144 G . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -202632 Simple 794729431 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-05 -0.54 1.5 Uncertain significance 0 -202633 Simple 755610701 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-12 -0.51 2.0 Uncertain significance 0 -202637 Simple 752671402 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-03-21 -0.54 2.0 Uncertain significance 0 -202641 Simple 184078045 G . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.58 1.4444444444444444 Uncertain significance 0 -202646 Simple 140795503 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-06-20 -0.48 3.0 Uncertain significance 0 -202650 Simple 370813526 T . Uncertain significance 2 2 not specified 2015-08-17 -0.51 2.5 Uncertain significance 0 -202651 Simple 753664074 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-22 -0.81 2.0 Uncertain significance 0 -202657 Simple 764388462 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-10 -0.6 0.5 Uncertain significance 0 -202663 Simple 72677238 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2016-06-10 -0.81 2.0 Uncertain significance 0 -202664 Simple 2303830 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -202667 Simple 370809363 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-17 -0.6 1.0 Uncertain significance 0 -202668 Simple 369826752 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-07 -0.51 2.5 Uncertain significance 0 -202674 Simple 794729446 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-13 -0.54 1.5 Uncertain significance 0 -202676 Simple 374543277 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;Cardiovascular phenotype 2016-07-11 -0.51 2.5 Uncertain significance 0 -202683 Simple 148018042 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-05-15 -0.5700000000000001 1.5 Uncertain significance 0 -202685 Simple 750610895 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-12-27 -0.5700000000000001 1.5 Uncertain significance 0 -202686 Simple 370067597 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-17 -0.87 1.0 Uncertain significance 0 -202693 Simple 746817480 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-29 -0.5700000000000001 1.0 Uncertain significance 0 -202699 Simple 794729455 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-03 -0.51 2.5 Uncertain significance 0 -202701 Simple 370126872 C . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -1.98 1.5714285714285714 Uncertain significance 0 -202702 Simple 377571654 C . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-02-20 -2.4 1.0 Uncertain significance 0 -202706 Simple 535008556 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -202709 Simple 771307468 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-26 -0.54 1.5 Uncertain significance 0 -202710 Simple 369678018 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-26 -0.5700000000000001 1.5 Uncertain significance 0 -202715 Simple 794729458 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-16 -0.51 2.0 Uncertain significance 0 -202718 Simple 199837769 A . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-19 -2.64 1.1111111111111112 Uncertain significance 0 -202721 Simple 773396552 T . Uncertain significance 2 2 not specified 2016-09-01 -0.6 1.0 Uncertain significance 0 -202731 Simple 201541213 A . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-08 -2.34 1.125 Uncertain significance 0 -202738 Simple 370686112 T . Uncertain significance 2 2 not specified 2017-01-05 -0.5700000000000001 1.5 Uncertain significance 0 -202743 Simple 755949982 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -202747 Simple 371060708 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-03 -0.48 3.0 Uncertain significance 0 -202748 Simple 200455644 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-22 -0.81 1.6666666666666667 Uncertain significance 0 -202749 Simple 750217838 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -202756 Simple 775137607 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-04 -2.4 0.875 Uncertain significance 0 -202763 Simple 201693851 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -202766 Simple 568886353 C . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.01 1.4285714285714286 Uncertain significance 0 -202776 Simple 376800688 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-18 -0.87 1.0 Uncertain significance 0 -202778 Simple 779686062 G . Uncertain significance 2 2 not specified 2016-09-01 -0.54 2.0 Uncertain significance 0 -202779 Simple 794729474 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-28 -0.6 1.0 Uncertain significance 0 -202780 Simple 749018114 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -202783 Simple 766935265 T . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-01-26 -2.9699999999999998 1.1 Uncertain significance 0 -202788 Simple 200355808 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-05-30 -0.51 2.0 Uncertain significance 0 -202791 Simple 371581072 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-21 -0.54 2.0 Uncertain significance 0 -202793 Simple 368450785 A . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-03-23 -2.4 0.875 Uncertain significance 0 -202795 Simple 56378177 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-13 -2.34 1.125 Uncertain significance 0 -202796 Simple 145527033 T . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-30 -7.5 2.3333333333333335 Likely benign 0 -202797 Simple 371856109 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-11 -0.87 1.0 Uncertain significance 0 -202800 Simple 757537780 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-05-31 -0.81 2.0 Uncertain significance 0 -202813 Simple 185620750 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2016-07-25 -0.54 2.0 Uncertain significance 0 -202822 Simple 55853138 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-26 -0.54 2.0 Uncertain significance 0 -202823 Simple 794729486 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-22 -0.54 1.5 Uncertain significance 0 -202829 Simple 371030086 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-03 -0.6 0.5 Uncertain significance 0 -202835 Simple 752648041 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-08 -0.51 2.5 Uncertain significance 0 -202836 Simple 772886864 A . Uncertain significance 2 2 not specified 2015-03-05 -0.51 2.5 Uncertain significance 0 -202842 Simple 185626486 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2014-05-14 -0.44999999999999996 3.5 Uncertain significance 0 -202844 Simple 199860952 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-23 -0.54 1.5 Uncertain significance 0 -202848 Simple 377334665 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-22 -0.5700000000000001 1.5 Uncertain significance 0 -202853 Simple 55713856 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-04-29 -0.51 2.5 Uncertain significance 0 -202855 Simple 372787601 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Dilated cardiomyopathy 1S;not specified 2016-05-01 -0.78 2.3333333333333335 Uncertain significance 0 -202866 Simple 371156190 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-22 -0.6 1.0 Uncertain significance 0 -202875 Simple 370768049 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-04-12 -0.54 2.0 Uncertain significance 0 -202876 Simple 745981754 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-09 -0.5700000000000001 1.5 Uncertain significance 0 -202877 Simple 778484596 C . Uncertain significance 2 2 not specified 2015-09-10 -0.48 3.0 Uncertain significance 0 -202887 Simple 370963021 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-16 -0.75 2.6666666666666665 Uncertain significance 0 -202889 Simple 191263181 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-30 -0.84 1.3333333333333333 Uncertain significance 0 -202893 Simple 183844833 C . Benign/Likely benign 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-05-13 -22.5 1.4 Benign/Likely benign 0 -202911 Simple 55933739 A . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2015-09-15 -0.69 3.3333333333333335 Uncertain significance 0 -202913 Simple 749852593 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-27 -0.5700000000000001 1.5 Uncertain significance 0 -202914 Simple 72648215 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-02-26 -0.75 2.6666666666666665 Uncertain significance 0 -202915 Simple 762472521 A . Uncertain significance 2 2 not specified 2015-01-16 -0.48 3.0 Uncertain significance 0 -202920 Simple 775527437 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-20 -0.54 2.0 Uncertain significance 0 -202926 Simple 774978209 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-03-27 -0.54 2.0 Uncertain significance 0 -202932 Simple 72648225 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-22 -0.54 1.5 Uncertain significance 0 -202933 Simple 375800916 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-12 -0.54 2.0 Uncertain significance 0 -202937 Simple 761251825 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-12 -0.5700000000000001 1.0 Uncertain significance 0 -202939 Simple 199501185 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-31 -2.4 0.875 Uncertain significance 0 -202952 Simple 200513274 A . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-21 -2.37 1.0 Uncertain significance 0 -202956 Simple 794729525 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-26 -0.48 2.5 Uncertain significance 0 -202972 Simple 11887722 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-13 -0.6 1.0 Uncertain significance 0 -202976 Simple 376494747 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-26 -0.54 1.5 Uncertain significance 0 -202977 Simple 770081431 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-10-20 -0.48 3.0 Uncertain significance 0 -202978 Simple 751610164 T . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-12-08 -2.55 1.5555555555555556 Uncertain significance 0 -202980 Simple 794729529 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-01 -0.51 2.0 Uncertain significance 0 -202981 Simple 775591945 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-16 -0.54 2.0 Uncertain significance 0 -202988 Simple 372570504 A . Uncertain significance 2 2 not specified 2017-01-05 -0.5700000000000001 1.5 Uncertain significance 0 -202989 Simple 200621611 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -202992 Simple 750213547 T . Uncertain significance 2 2 not specified 2015-11-24 -0.48 3.0 Uncertain significance 0 -202998 Simple 794729536 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2015-12-22 -0.51 2.5 Uncertain significance 0 -203004 Simple 758756316 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-30 -0.54 1.5 Uncertain significance 0 -203005 Simple 377016580 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-20 -0.87 0.6666666666666666 Uncertain significance 0 -203007 Simple 370918800 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-02-07 -0.51 2.5 Uncertain significance 0 -203011 Simple 748984928 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -203013 Simple 794729539 C . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.31 1.375 Uncertain significance 0 -203014 Simple 794729540 C . Uncertain significance 2 2 not specified 2015-03-06 -0.51 2.5 Uncertain significance 0 -203015 Simple 72648261 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2013-11-25 -0.42 4.0 Uncertain significance 0 -203017 Simple 763270971 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-27 -2.37 1.125 Uncertain significance 0 -203018 Simple 756469423 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-03-27 -0.51 2.5 Uncertain significance 0 -203022 Simple 794729542 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-14 -0.51 2.0 Uncertain significance 0 -203023 Simple 755717335 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-04-12 -0.81 1.6666666666666667 Uncertain significance 0 -203024 Simple 764561909 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-10 -0.54 2.0 Uncertain significance 0 -203026 Simple 377412567 A . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-14 -2.34 1.125 Uncertain significance 0 -203027 Simple 200148139 T . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-06 -2.31 1.375 Uncertain significance 0 -203028 Simple 201364164 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-16 -0.54 1.5 Uncertain significance 0 -203029 Simple 773555433 G . Uncertain significance 2 2 not specified 2015-07-17 -0.48 3.0 Uncertain significance 0 -203036 Simple 794729549 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-30 -0.54 1.5 Uncertain significance 0 -203040 Simple 186244950 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-16 -0.6 1.0 Uncertain significance 0 -203042 Simple 776743138 A . Uncertain significance 2 2 not specified 2016-08-27 -0.54 2.0 Uncertain significance 0 -203043 Simple 758494581 G . Uncertain significance 2 8 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-27 -2.4 0.875 Uncertain significance 0 -203044 Simple 746380940 A . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-27 -2.4 0.875 Uncertain significance 0 -203049 Simple 761362832 T . Uncertain significance 2 2 not specified;not provided 2016-12-31 -0.6 1.0 Uncertain significance 0 -203051 Simple 374295768 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-30 -6.0 0.5 Likely benign 0 -203055 Simple 372304158 C . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-24 -2.4 0.75 Uncertain significance 0 -203056 Simple 368321767 G . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-24 -2.4 0.75 Uncertain significance 0 -203062 Simple 192391568 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-23 -0.51 2.0 Uncertain significance 0 -203063 Simple 766439271 T . Uncertain significance 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -1.08 1.75 Uncertain significance 0 -203066 Simple 201954720 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-17 -0.51 2.0 Uncertain significance 0 -203067 Simple 370077023 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-05-14 -0.5700000000000001 1.0 Uncertain significance 0 -203068 Simple 556155561 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -0.54 1.5 Uncertain significance 0 -203071 Simple 751914956 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-21 -0.6 0.5 Uncertain significance 0 -203073 Simple 544590023 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-14 -0.6 1.0 Uncertain significance 0 -203074 Simple 200716930 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-04-10 -0.81 2.0 Uncertain significance 0 -203079 Simple 772532135 G . Uncertain significance 2 2 not specified 2017-04-10 -0.6 0.5 Uncertain significance 0 -203082 Simple 199710082 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-25 -0.5700000000000001 1.5 Uncertain significance 0 -203094 Simple 779464128 C . Uncertain significance 2 2 not specified 2015-09-28 -0.51 2.5 Uncertain significance 0 -203098 Simple 768358201 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-31 -0.48 2.5 Uncertain significance 0 -203099 Simple 774524898 A . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.01 1.4285714285714286 Uncertain significance 0 -203100 Simple 368151146 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -203102 Simple 377171054 T . Uncertain significance 2 2 not specified 2015-08-11 -0.51 2.5 Uncertain significance 0 -203104 Simple 555476312 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-18 -0.51 2.0 Uncertain significance 0 -203112 Simple 772957495 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-09 -0.54 1.5 Uncertain significance 0 -203117 Simple 776981475 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-17 -0.51 2.0 Uncertain significance 0 -203122 Simple 761402128 T . Uncertain significance 2 2 not specified 2015-04-01 -0.54 2.0 Uncertain significance 0 -203127 Simple 147254212 T . Uncertain significance 2 2 not specified 2015-09-24 -0.45 3.5 Uncertain significance 0 -203137 Simple 794729577 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-28 -0.48 2.5 Uncertain significance 0 -203141 Simple 562856820 T . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-13 -12.0 0.0 Benign/Likely benign 1 -203147 Simple 146123323 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-24 -0.51 2.5 Uncertain significance 0 -203176 Simple 766262957 T . Uncertain significance 2 2 not specified 2016-12-13 -0.51 2.5 Uncertain significance 0 -203184 Simple 764892312 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-17 -0.51 2.5 Uncertain significance 0 -203206 Simple 148791107 C . Uncertain significance 2 2 not specified 2015-01-30 -0.48 3.0 Uncertain significance 0 -203219 Simple 141624211 T . Likely benign 2 2 not specified 2016-08-29 -5.7 1.5 Likely benign 0 -203232 Simple 773833776 C . Uncertain significance 2 2 not specified 2017-06-08 -0.48 2.5 Uncertain significance 0 -203233 Simple 377579941 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-20 -0.6 0.0 Uncertain significance 0 -203234 Simple 757119133 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-04-04 -0.54 2.0 Uncertain significance 0 -203239 Simple 376799249 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-29 -0.54 1.5 Uncertain significance 0 -203245 Simple 794729608 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2014-10-09 -0.44999999999999996 3.5 Uncertain significance 0 -203246 Simple 752970602 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-12 -0.6 0.5 Uncertain significance 0 -203248 Simple 145438758 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-13 -0.54 1.5 Uncertain significance 0 -203249 Simple 202234492 T . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-16 -2.1 0.8571428571428571 Uncertain significance 0 -203250 Simple 752924679 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-16 -0.54 1.5 Uncertain significance 0 -203251 Simple 372176136 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-06 -0.54 1.5 Uncertain significance 0 -203252 Simple 752346935 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-21 -0.54 1.5 Uncertain significance 0 -203264 Simple 181067357 A . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-27 -2.37 1.0 Uncertain significance 0 -203265 Simple 752226947 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-04-22 -0.54 2.0 Uncertain significance 0 -203266 Simple 548015673 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-23 -0.54 2.0 Uncertain significance 0 -203268 Simple 189127014 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -203272 Simple 72648947 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-07-12 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -203282 Simple 202022304 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-26 -0.54 1.5 Uncertain significance 0 -203288 Simple 768932465 G . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-05 -2.1 0.8571428571428571 Uncertain significance 0 -203290 Simple 571675433 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-30 -0.51 2.5 Uncertain significance 0 -203292 Simple 375262781 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-06 -0.51 2.0 Uncertain significance 0 -203300 Simple 201029552 A . Uncertain significance 2 10 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-03 -2.82 1.5 Uncertain significance 0 -203313 Simple 759713604 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-11 -2.31 1.25 Uncertain significance 0 -203323 Simple 372804810 T . Uncertain significance 2 2 not specified 2016-05-18 -0.5700000000000001 1.5 Uncertain significance 0 -203329 Simple 745913661 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-06-20 -0.48 3.0 Uncertain significance 0 -203332 Simple 375219172 A . Uncertain significance 2 2 not specified 2016-08-27 -0.54 2.0 Uncertain significance 0 -203337 Simple 777349143 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-31 -0.54 2.0 Uncertain significance 0 -203340 Simple 369947439 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-05 -0.87 1.0 Uncertain significance 0 -203347 Simple 757381520 G . Uncertain significance 2 2 not specified 2015-07-15 -0.51 2.5 Uncertain significance 0 -203348 Simple 536974988 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -203351 Simple 766638714 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-04 -0.51 2.0 Uncertain significance 0 -203354 Simple 374930292 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-23 -0.51 2.5 Uncertain significance 0 -203359 Simple 184923756 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-21 -0.6 0.5 Uncertain significance 0 -203361 Simple 116928232 T . Pathogenic/Likely pathogenic 2 3 Lysosomal acid lipase deficiency;not provided 2016-09-06 15.0 1.0 Pathogenic 1 -203381 Simple 149989682 A . Pathogenic/Likely pathogenic 2 2 Surfactant metabolism dysfunction, pulmonary, 3;not provided 2016-09-12 10.8 2.0 Pathogenic/Likely pathogenic 0 -203387 Simple 139279977 C . Uncertain significance 2 5 Retinitis pigmentosa-deafness syndrome;Deafness, autosomal recessive 31;Usher syndrome, type 2D;not specified;not provided;Nonsyndromic Hearing Loss, Recessive 2016-07-31 -1.44 1.4 Uncertain significance 0 -203460 Simple 63749817 A . Pathogenic/Likely pathogenic 2 2 Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;not provided 2017-02-28 9.0 1.0 Pathogenic/Likely pathogenic 0 -203490 Simple 796051885 A . Pathogenic 2 3 Loeys-Dietz syndrome 4;not provided;Loeys-Dietz syndrome 5 2017-05-30 17.4 1.0 Pathogenic 0 -203521 Simple 200673370 T . Uncertain significance 2 2 not specified;not provided 2017-01-03 -0.5700000000000001 1.5 Uncertain significance 0 -203526 Simple 147873489 A . Uncertain significance 2 2 not specified;Epilepsy, hearing loss, and mental retardation syndrome 2017-11-10 -0.6 0.0 Uncertain significance 0 -203539 Simple 770273135 C . Likely pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency;Hydrocephalus, nonsyndromic, autosomal recessive 2 2017-06-26 5.7 1.0 Likely pathogenic 0 -203548 Simple 777998984 - . Pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2015-02-20 9.0 3.5 Pathogenic/Likely pathogenic 1 -203560 Simple 368469075 T . Pathogenic/Likely pathogenic 2 2 Deficiency of butyryl-CoA dehydrogenase;not provided 2017-05-18 9.0 0.5 Pathogenic/Likely pathogenic 0 -203562 Simple 566325901 G . Uncertain significance 2 2 Deficiency of butyryl-CoA dehydrogenase;not specified 2017-01-17 -0.6 1.0 Uncertain significance 0 -203577 Simple 147366714 A . Uncertain significance 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2017-03-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -203579 Simple 771874163 T . Pathogenic 2 3 not specified;not provided 2017-02-08 16.2 2.0 Pathogenic 0 -203580 Simple 112406105 A . Pathogenic/Likely pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2016-06-09 9.0 1.0 Pathogenic/Likely pathogenic 0 -203585 Simple 751995154 A . Pathogenic/Likely pathogenic 2 4 Very long chain acyl-CoA dehydrogenase deficiency;not provided;Myopathy;Rhabdomyolysis 2017-07-19 14.4 1.0 Pathogenic/Likely pathogenic 0 -203592 Simple 796051916 CC . Pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2017-05-24 10.2 2.0 Pathogenic/Likely pathogenic 1 -203595 Simple 545215807 A . Pathogenic/Likely pathogenic 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2017-03-22 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -203630 Simple 58233547 T . Benign 2 2 Citrullinemia type I;not specified 2017-07-07 -10.8 1.5 Benign/Likely benign 1 -203639 Simple 796051939 A . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease;not provided 2015-10-20 5.7 4.0 Likely pathogenic 1 -203645 Simple 138254425 A . Likely benign 2 2 not specified;not provided 2017-05-22 -5.7 1.0 Likely benign 0 -203646 Simple 41272673 G . Benign/Likely benign 2 3 Congenital hyperammonemia, type I;not specified 2017-07-15 -13.8 1.3333333333333333 Benign/Likely benign 0 -203647 Simple 61509952 TTC . Benign 2 2 Congenital hyperammonemia, type I;not specified;not provided 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -203652 Simple 61731904 T . Benign 2 2 Carnitine palmitoyl transferase 1 deficiency;not specified 2017-06-29 -10.8 1.5 Benign/Likely benign 1 -203655 Simple 140958507 T . Benign 2 3 Carnitine palmitoyl transferase 1 deficiency;not specified 2017-01-09 -17.4 1.3333333333333333 Benign/Likely benign 1 -203657 Simple 144703247 C . Benign/Likely benign 2 2 Carnitine palmitoyltransferase II deficiency;not specified 2017-07-28 -7.8 1.5 Likely benign 1 -203659 Simple 201065226 T . Pathogenic/Likely pathogenic 2 5 Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL;not provided 2017-10-02 20.1 1.4 Pathogenic 1 -203672 Simple 138002793 G . Uncertain significance 2 6 Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;Leigh syndrome;not specified;not provided 2017-04-14 -1.77 1.0 Uncertain significance 0 -203680 Simple 533405046 C . Uncertain significance 2 4 Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;Leigh syndrome;not specified 2016-06-14 -1.08 2.0 Uncertain significance 0 -203692 Simple 141200145 G . Uncertain significance 2 2 Glutaric aciduria, type 2;not specified 2017-07-12 -0.6 0.0 Uncertain significance 0 -203695 Simple 141529162 GG . Benign 2 2 not specified 2016-03-28 -9.6 3.0 Benign/Likely benign 1 -203698 Simple 144640661 A . Benign 2 2 Glutaric aciduria, type 2;not specified 2016-09-29 -10.8 2.0 Benign/Likely benign 1 -203699 Simple 141917423 T . Likely benign 2 2 not specified;not provided 2016-12-27 -5.7 1.5 Likely benign 0 -203702 Simple 148567433 T . Uncertain significance 2 2 Glutaric aciduria, type 2;not specified 2016-12-09 -0.6 1.0 Uncertain significance 0 -203732 Simple 372134800 T . Uncertain significance 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -203738 Simple 60085478 T . Benign/Likely benign 2 4 Mitochondrial trifunctional protein deficiency;Trifunctional protein deficiency with myopathy and neuropathy;Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not specified;LCHAD Deficiency 2017-04-03 -16.8 1.25 Benign/Likely benign 0 -203754 Simple 149736764 T . Likely benign 2 2 not specified 2017-01-26 -6.0 1.0 Likely benign 0 -203755 Simple 150665851 T . Benign/Likely benign 2 2 Holocarboxylase synthetase deficiency;not provided 2017-03-27 -9.0 0.5 Benign/Likely benign 0 -203777 Simple 771944310 - . Pathogenic 2 2 Holocarboxylase synthetase deficiency;not provided 2016-09-21 12.0 1.0 Pathogenic/Likely pathogenic 1 -203782 Simple 8040294 T . Benign/Likely benign 2 2 Isovaleryl-CoA dehydrogenase deficiency;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -203795 Simple 185741664 A . Pathogenic 2 2 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2016-11-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -203806 Simple 757052602 T . Pathogenic/Likely pathogenic 2 2 3-methylcrotonyl CoA carboxylase 2 deficiency;not provided 2017-08-01 9.0 0.0 Pathogenic/Likely pathogenic 0 -203817 Simple 115802744 A . Benign/Likely benign 2 2 Methylmalonic aciduria cblB type;not specified 2017-05-01 -9.0 0.0 Benign/Likely benign 0 -203820 Simple 369296618 A . Pathogenic 2 2 Methylmalonic aciduria cblB type;not provided 2016-10-10 10.8 2.0 Pathogenic/Likely pathogenic 1 -203824 Simple 200483477 T . Uncertain significance 2 2 Methylmalonic acidemia with homocystinuria;not specified 2017-07-28 -0.6 0.0 Uncertain significance 0 -203826 Simple 201617713 A . Uncertain significance 2 3 Methylmalonic acidemia with homocystinuria;not specified;not provided 2017-08-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -203828 Simple 140522266 C . Pathogenic/Likely pathogenic 2 3 Methylmalonic acidemia with homocystinuria;Disorders of Intracellular Cobalamin Metabolism;not provided 2016-12-28 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -203835 Simple 796052000 - . Pathogenic 2 2 Methylmalonic acidemia with homocystinuria;not provided 2017-08-04 10.8 1.5 Pathogenic/Likely pathogenic 1 -203836 Simple 11545261 T . Benign 2 4 Methylmalonic acidemia;Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -203839 Simple 116836001 T . Uncertain significance 2 3 Disorders of Intracellular Cobalamin Metabolism;not specified 2017-09-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -203842 Simple 796052001 - . Uncertain significance 2 3 Disorders of Intracellular Cobalamin Metabolism;not specified 2017-03-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -203846 Simple 564069299 T . Pathogenic 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided 2017-04-21 12.0 0.0 Pathogenic/Likely pathogenic 1 -203847 Simple 368790885 G . Likely pathogenic 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided 2017-04-11 5.7 1.0 Likely pathogenic 0 -203854 Simple 760782399 T . Pathogenic 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided 2017-04-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -203863 Simple 55708447 C . Benign/Likely benign 2 2 Hyperammonemia, type III;not specified;not provided 2016-06-14 -10.8 2.0 Benign/Likely benign 0 -203864 Simple 113134544 G . Benign/Likely benign 2 3 Hyperammonemia, type III;not specified;not provided 2017-09-21 -12.0 0.6666666666666666 Benign/Likely benign 0 -203879 Simple 150788587 C . Uncertain significance 2 2 Propionic acidemia;not specified 2017-01-30 -0.6 1.0 Uncertain significance 0 -203882 Simple 572246667 A . Pathogenic 2 2 Propionic acidemia;not provided 2016-10-11 11.4 1.5 Pathogenic/Likely pathogenic 1 -203883 Simple 200185747 A . Benign/Likely benign 2 3 not specified;not provided 2017-11-03 -12.0 0.6666666666666666 Benign/Likely benign 0 -203917 Simple 141237842 T . Uncertain significance 2 2 not specified;not provided 2017-09-07 -0.6 0.5 Uncertain significance 0 -203929 Simple 777004046 C . Pathogenic 2 2 not specified;not provided 2017-08-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -203938 Simple 148962110 G . Uncertain significance 2 3 Citrullinemia type I;Citrin deficiency;not specified 2017-11-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -203960 Simple 142289138 A . Uncertain significance 2 2 not specified;Global developmental delay 2017-09-21 -0.6 0.5 Uncertain significance 0 -203968 Simple 369610897 G . Uncertain significance 2 3 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);not specified;Mitochondrial DNA depletion syndrome 2017-03-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -203970 Simple 143030960 T . Uncertain significance 2 4 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);not specified;not provided;Mitochondrial DNA depletion syndrome 2016-12-01 -1.17 1.25 Uncertain significance 0 -203986 Simple 199655842 G . Uncertain significance 2 2 not specified;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2016-06-14 -0.48 3.0 Uncertain significance 0 -204005 Simple 797044520 T . Pathogenic 2 3 Mental retardation, autosomal dominant 7;not provided 2017-07-13 14.4 2.6666666666666665 Pathogenic/Likely pathogenic 1 -204011 Simple 797044526 T . Pathogenic/Likely pathogenic 2 2 Mental retardation, autosomal dominant 7;not provided 2016-02-12 7.800000000000001 2.5 Likely pathogenic 1 -204103 Simple 180177225 T . Pathogenic/Likely pathogenic 2 2 Primary hyperoxaluria, type I 2017-07-07 5.7 1.0 Likely pathogenic 1 -204285 Simple 185803104 T . Pathogenic 2 2 Primary hyperoxaluria, type III;not provided 2016-10-31 11.4 1.5 Pathogenic/Likely pathogenic 1 -204593 Simple 534542684 - . Pathogenic 2 4 not provided;Joubert syndrome 23 2017-02-20 22.8 1.5 Pathogenic 0 -204594 Simple 757350052 C . Pathogenic 2 2 not provided;Joubert syndrome 23 2017-02-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -204598 Simple 149268921 A . Benign/Likely benign 2 2 Deficiency of guanidinoacetate methyltransferase;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -204601 Simple 182372608 T . Benign/Likely benign 2 2 Pitt-Hopkins syndrome;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -204794 Simple 150228971 A . Uncertain significance 2 2 Adenylosuccinate lyase deficiency;not specified 2017-03-21 -0.6 0.5 Uncertain significance 0 -204797 Simple 145750778 G . Uncertain significance 2 2 Adenylosuccinate lyase deficiency;not specified 2017-07-06 -0.6 0.5 Uncertain significance 0 -204800 Simple 200814886 A . Uncertain significance 2 3 not specified 2015-10-12 -0.75 2.6666666666666665 Uncertain significance 0 -204807 Simple 374259530 C . Pathogenic 2 4 Adenylosuccinate lyase deficiency;not provided;Generalized myoclonic seizures;Progressive neurologic deterioration;Inability to walk;Difficulty standing;Severe global developmental delay 2017-10-20 22.2 1.25 Pathogenic 0 -204815 Simple 756210458 T . Pathogenic 2 2 not provided;Generalized myoclonic seizures;Progressive neurologic deterioration;Inability to walk;Difficulty standing;Severe global developmental delay 2015-06-22 10.2 2.5 Pathogenic/Likely pathogenic 1 -204824 Simple 140627539 G . Benign/Likely benign 2 2 not specified;not provided 2017-08-24 -7.8 1.5 Likely benign 1 -204829 Simple 796052257 C . Uncertain significance 2 2 Pyridoxine-dependent epilepsy;not specified 2016-09-26 -0.51 2.5 Uncertain significance 0 -204852 Simple 556400964 G . Pathogenic 2 2 Pyridoxine-dependent epilepsy;not provided 2017-08-04 12.0 0.0 Pathogenic/Likely pathogenic 1 -204855 Simple 566243475 A . Uncertain significance 2 2 Pyridoxine-dependent epilepsy;not specified 2017-06-16 -0.5700000000000001 1.0 Uncertain significance 0 -204861 Simple 796052269 CTC . Uncertain significance 2 2 Pyridoxine-dependent epilepsy;not specified 2017-07-25 -0.54 1.5 Uncertain significance 0 -204863 Simple 370624118 A . Uncertain significance 2 3 Pyridoxine-dependent epilepsy;not specified 2017-08-04 -0.87 1.0 Uncertain significance 0 -204875 Simple 397775888 CC . Benign 2 1 not specified 2013-01-22 . 5.0 . 0 -204876 Simple 200127278 A . Benign/Likely benign 2 3 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -204877 Simple 138826759 T . Benign 2 3 Familial hemiplegic migraine;not specified 2016-11-10 -16.8 1.6666666666666667 Benign/Likely benign 1 -204881 Simple 55858252 A . Benign/Likely benign 2 6 Familial hemiplegic migraine;not specified;not provided;Alternating hemiplegia of childhood 2017-10-05 -20.4 0.8333333333333334 Benign/Likely benign 0 -204883 Simple 537472446 G . Benign/Likely benign 2 3 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -204891 Simple 765936799 A . Uncertain significance 2 2 Familial hemiplegic migraine;not specified 2017-08-07 -0.6 0.0 Uncertain significance 0 -204892 Simple 771085157 T . Uncertain significance 2 3 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-10-11 -0.8999999999999999 1.0 Uncertain significance 0 -204915 Simple 749401561 T . Uncertain significance 2 2 not specified 2016-08-22 -0.54 2.0 Uncertain significance 0 -204918 Simple 751433380 A . Uncertain significance 2 2 Mental retardation, X-linked, syndromic, Hedera type;not specified 2017-06-07 -0.51 2.0 Uncertain significance 0 -204922 Simple 139448267 G . Benign 2 3 Idiopathic generalized epilepsy;not specified 2016-12-07 -16.8 1.6666666666666667 Benign/Likely benign 1 -204927 Simple 796052287 T . Uncertain significance 2 2 not specified 2016-08-30 -0.5700000000000001 1.5 Uncertain significance 0 -204935 Simple 762394421 T . Uncertain significance 2 2 Idiopathic generalized epilepsy;not specified 2016-08-26 -0.5700000000000001 1.5 Uncertain significance 0 -204944 Simple 139680977 - . Benign 2 2 not specified;Nocturnal frontal lobe epilepsy 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -204946 Simple 77710085 T . Likely benign 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Nocturnal frontal lobe epilepsy 2017-04-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -204950 Simple 143223159 A . Benign/Likely benign 2 3 not specified;Nocturnal frontal lobe epilepsy 2016-07-19 -13.8 1.6666666666666667 Benign/Likely benign 0 -204975 Simple 796052305 T . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-07-03 -0.48 2.5 Uncertain significance 0 -204979 Simple 74772771 A . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-04-22 -0.6 0.5 Uncertain significance 0 -204982 Simple 376970816 A . Uncertain significance 2 2 not specified;Nocturnal frontal lobe epilepsy 2016-06-14 -0.54 2.0 Uncertain significance 0 -205001 Simple 45622132 A . Benign/Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-09-07 -9.0 0.0 Benign/Likely benign 0 -205027 Simple 796052319 C . Uncertain significance 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-05-30 -0.78 2.0 Uncertain significance 0 -205037 Simple 113794453 C . Uncertain significance 2 2 not specified 2017-03-07 -0.5700000000000001 1.0 Uncertain significance 0 -205039 Simple 200644872 A . Uncertain significance 2 2 not specified;not provided 2016-12-08 -0.5700000000000001 1.5 Uncertain significance 0 -205045 Simple 143103435 T . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-02-20 -0.6 1.0 Uncertain significance 0 -205060 Simple 112585933 A . Benign/Likely benign 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-07-28 -12.0 0.0 Benign/Likely benign 0 -205066 Simple 199885651 C . Uncertain significance 2 2 not specified;Seizures;Deeply set eye;Microcephaly 2016-09-01 -0.5700000000000001 1.5 Uncertain significance 0 -205077 Simple 796052329 - . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-08-16 -0.6 0.5 Uncertain significance 0 -205088 Simple 373034150 T . Uncertain significance 2 3 not specified;not provided;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-02-09 -0.8999999999999999 1.0 Uncertain significance 0 -205097 Simple 386833726 T . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-03-22 -0.6 0.5 Uncertain significance 0 -205098 Simple 376907245 C . Uncertain significance 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 -0.81 2.0 Uncertain significance 0 -205104 Simple 769840061 A . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-08-04 -0.6 0.0 Uncertain significance 0 -205109 Simple 144770450 T . Uncertain significance 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-11-10 -0.6 1.0 Uncertain significance 0 -205112 Simple 150913606 T . Uncertain significance 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-01-13 -0.87 1.3333333333333333 Uncertain significance 0 -205115 Simple 776966610 - . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-05-16 -0.6 0.5 Uncertain significance 0 -205118 Simple 370603922 T . Uncertain significance 2 2 not specified;not provided 2017-08-02 -0.6 0.5 Uncertain significance 0 -205127 Simple 199727787 C . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-08-04 -8.4 1.0 Benign/Likely benign 0 -205133 Simple 745767054 C . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-05-24 -0.6 0.5 Uncertain significance 0 -205141 Simple 376454715 T . Uncertain significance 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-04-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -205142 Simple 778982551 C . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-05-24 -0.6 0.5 Uncertain significance 0 -205143 Simple 369122820 A . Uncertain significance 2 2 not specified 2016-09-29 -0.5700000000000001 1.5 Uncertain significance 0 -205144 Simple 546989392 T . Pathogenic 2 2 Neuronal ceroid lipofuscinosis;not provided 2017-05-26 10.8 1.5 Pathogenic/Likely pathogenic 1 -205145 Simple 144656959 A . Uncertain significance 2 4 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-07-20 -1.17 0.75 Uncertain significance 0 -205147 Simple 369100769 G . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-04-12 -0.6 0.5 Uncertain significance 0 -205175 Simple 554594996 T . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-04-17 -0.5700000000000001 1.0 Uncertain significance 0 -205179 Simple 3743088 C . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-04-13 -0.6 0.5 Uncertain significance 0 -205194 Simple 144495588 T . Pathogenic 2 2 Neuronal ceroid lipofuscinosis;not provided 2016-07-26 11.4 1.5 Pathogenic/Likely pathogenic 1 -205203 Simple 749651452 G . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-03-14 -0.6 0.5 Uncertain significance 0 -205207 Simple 142269885 G . Uncertain significance 2 4 Neuronal ceroid lipofuscinosis;not specified 2017-10-23 -1.17 0.75 Uncertain significance 0 -205208 Simple 187297173 T . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-04-11 -0.51 2.0 Uncertain significance 0 -205215 Simple 377627481 T . Uncertain significance 2 2 not specified;not provided 2017-09-01 -0.6 0.0 Uncertain significance 0 -205220 Simple 144003410 A . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-07-25 -0.6 0.0 Uncertain significance 0 -205221 Simple 111599875 C . Likely benign 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-08-07 -11.4 1.0 Benign/Likely benign 1 -205230 Simple 570190374 G . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2015-12-23 -0.45 3.5 Uncertain significance 0 -205234 Simple 796052370 G . Uncertain significance 2 2 not specified 2016-03-04 -0.51 2.5 Uncertain significance 0 -205236 Simple 147815978 T . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-10-12 -0.6 0.0 Uncertain significance 0 -205243 Simple 774717843 A . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2016-12-24 -0.48 3.0 Uncertain significance 0 -205244 Simple 752550849 T . Pathogenic 2 2 Cortical dysplasia-focal epilepsy syndrome;not provided 2017-04-27 10.2 2.0 Pathogenic/Likely pathogenic 1 -205245 Simple 149032771 A . Uncertain significance 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-03-29 -1.2 0.75 Uncertain significance 0 -205248 Simple 141064983 A . Uncertain significance 2 5 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-05-31 -1.44 1.2 Uncertain significance 0 -205250 Simple 142980731 A . Uncertain significance 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-05-18 -0.87 1.0 Uncertain significance 0 -205253 Simple 534215627 T . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-06-30 -0.51 2.0 Uncertain significance 0 -205258 Simple 760930032 G . Uncertain significance 2 2 not specified 2015-08-12 -0.45 3.5 Uncertain significance 0 -205261 Simple 150530671 A . Uncertain significance 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-03-28 -0.84 1.3333333333333333 Uncertain significance 0 -205271 Simple 758630057 A . Uncertain significance 2 2 not specified 2017-11-10 -0.6 0.5 Uncertain significance 0 -205277 Simple 138257598 A . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-05-25 -0.51 2.0 Uncertain significance 0 -205278 Simple 796052382 A . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2016-01-10 -0.45 3.5 Uncertain significance 0 -205280 Simple 374739970 A . Uncertain significance 2 4 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2017-10-04 -1.2 0.5 Uncertain significance 0 -205282 Simple 369254596 T . Uncertain significance 2 2 not specified 2017-03-29 -0.6 0.5 Uncertain significance 0 -205284 Simple 773399465 A . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -205302 Simple 777035367 A . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-02-09 -0.54 2.0 Uncertain significance 0 -205303 Simple 370517200 G . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-04-29 -0.6 0.5 Uncertain significance 0 -205305 Simple 781338949 A . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-06-24 -0.5700000000000001 1.0 Uncertain significance 0 -205310 Simple 771028883 T . Uncertain significance 2 2 not specified 2015-03-16 -0.51 2.5 Uncertain significance 0 -205311 Simple 768374052 C . Uncertain significance 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-11-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -205315 Simple 141617212 T . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-03-08 -0.54 1.5 Uncertain significance 0 -205319 Simple 767821521 C . Uncertain significance 2 3 Autism 15;Cortical dysplasia-focal epilepsy syndrome;not specified 2017-05-23 -0.84 1.3333333333333333 Uncertain significance 0 -205321 Simple 139694086 G . Uncertain significance 2 3 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-09-08 -0.87 0.6666666666666666 Uncertain significance 0 -205322 Simple 372345438 A . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-07-21 -0.6 0.5 Uncertain significance 0 -205325 Simple 557717323 A . Benign/Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2017-05-24 -7.8 1.5 Likely benign 1 -205330 Simple 796052394 T . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-06-24 -0.54 1.5 Uncertain significance 0 -205332 Simple 369229897 T . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-02-15 -7.8 2.0 Likely benign 1 -205336 Simple 764982673 T . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-10-30 -7.8 2.0 Likely benign 1 -205353 Simple 757712173 A . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-01-10 -0.6 1.0 Uncertain significance 0 -205364 Simple 144141585 G . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-01-05 -13.8 1.6666666666666667 Benign/Likely benign 0 -205365 Simple 181906972 T . Benign/Likely benign 2 5 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-07-27 -22.8 1.2 Benign/Likely benign 0 -205366 Simple 140948457 T . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-06-27 -13.8 1.3333333333333333 Benign/Likely benign 0 -205368 Simple 140326040 T . Benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-02-17 -10.8 2.0 Benign/Likely benign 1 -205371 Simple 372843187 G . Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-06-16 -6.0 0.5 Likely benign 0 -205374 Simple 144915847 T . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-08-01 -0.54 1.5 Uncertain significance 0 -205377 Simple 541118679 T . Likely benign 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 -5.4 2.0 Likely benign 0 -205398 Simple 374661645 T . Uncertain significance 2 2 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2016-07-15 -0.54 2.0 Uncertain significance 0 -205401 Simple 527295360 T . Uncertain significance 2 2 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -205404 Simple 369468811 T . Uncertain significance 2 2 Juvenile myoclonic epilepsy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -205415 Simple 201197637 A . Uncertain significance 2 2 Juvenile myoclonic epilepsy;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -205421 Simple 543160745 G . Uncertain significance 2 2 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2016-11-25 -0.51 2.5 Uncertain significance 0 -205424 Simple 753397854 T . Uncertain significance 2 2 not specified;not provided 2017-05-12 -0.6 0.5 Uncertain significance 0 -205428 Simple 571938170 T . Uncertain significance 2 2 not specified 2017-04-26 -0.6 0.5 Uncertain significance 0 -205429 Simple 144565191 A . Uncertain significance 2 2 not specified 2016-11-28 -0.6 1.0 Uncertain significance 0 -205442 Simple 796052433 A . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-02-24 -0.6 1.0 Uncertain significance 0 -205444 Simple 374338349 T . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-08-10 -0.51 2.0 Uncertain significance 0 -205471 Simple 796052455 A . Likely benign 2 2 not specified 2016-08-05 -6.0 1.0 Likely benign 0 -205472 Simple 796052456 AGCCGGGCGGCGAGCCGGGCGGCG . Likely benign 2 2 not specified 2016-07-22 -5.4 2.0 Likely benign 0 -205474 Simple 148157138 C . Likely benign 2 2 Rett syndrome, congenital variant;not specified 2017-08-14 -6.0 0.5 Likely benign 0 -205485 Simple 796052462 A . Pathogenic 2 2 not provided;Inborn genetic diseases 2016-06-23 10.2 2.5 Pathogenic/Likely pathogenic 1 -205505 Simple 796052479 T . Uncertain significance 2 2 not specified;not provided 2016-08-31 -0.54 2.0 Uncertain significance 0 -205515 Simple 764666718 A . Benign 2 2 Idiopathic generalized epilepsy;Epilepsy, juvenile myoclonic 5;Epilepsy, childhood absence 4;not specified 2017-06-14 -10.8 1.5 Benign/Likely benign 1 -205541 Simple 796052505 A . Pathogenic/Likely pathogenic 2 4 Epilepsy, childhood absence 2;Familial febrile seizures 8;not specified;not provided 2017-10-24 20.7 0.75 Pathogenic 1 -205549 Simple 796052510 T . Uncertain significance 2 2 Epilepsy, childhood absence 2;Familial febrile seizures 8;not specified 2015-07-06 -0.51 2.5 Uncertain significance 0 -205565 Simple 779679242 C . Benign/Likely benign 2 1 not specified 2015-01-19 . 3.0 . 0 -205568 Simple 200679529 A . Benign/Likely benign 2 2 Cerebral creatine deficiency syndrome;not specified 2017-07-12 -7.8 1.5 Likely benign 1 -205584 Simple 370421531 T . Pathogenic 2 3 Deficiency of guanidinoacetate methyltransferase;Cerebral creatine deficiency syndrome;not provided 2017-08-14 18.0 0.3333333333333333 Pathogenic 0 -205592 Simple 139890971 A . Uncertain significance 2 3 Cerebral creatine deficiency syndrome;not specified 2017-06-03 -0.87 1.0 Uncertain significance 0 -205596 Simple 201029006 G . Uncertain significance 2 2 Cerebral creatine deficiency syndrome;not specified 2016-12-15 -0.5700000000000001 1.5 Uncertain significance 0 -205631 Simple 150907052 G . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-07-27 -0.6 0.5 Uncertain significance 0 -205637 Simple 139646156 A . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -205639 Simple 146867324 A . Benign/Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified;not provided 2017-04-08 -10.8 1.3333333333333333 Benign/Likely benign 0 -205640 Simple 527686036 A . Benign/Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-05-24 -13.8 1.3333333333333333 Benign/Likely benign 0 -205642 Simple 148846694 A . Benign/Likely benign 2 2 not specified 2016-10-06 -7.8 2.0 Likely benign 1 -205643 Simple 139795367 A . Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-01-11 -8.7 1.3333333333333333 Benign/Likely benign 1 -205644 Simple 78544202 T . Benign/Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-04-19 -13.8 1.3333333333333333 Benign/Likely benign 0 -205649 Simple 145956175 T . Benign/Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-07-19 -12.0 0.3333333333333333 Benign/Likely benign 0 -205661 Simple 796052553 A . Uncertain significance 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-07-25 -0.54 2.0 Uncertain significance 0 -205675 Simple 75761674 C . Uncertain significance 2 2 not specified 2015-07-28 -0.54 2.0 Uncertain significance 0 -205692 Simple 199784503 G . Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-01-09 -6.0 1.0 Likely benign 0 -205693 Simple 138809301 C . Likely benign 2 4 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-07-17 -11.7 1.0 Benign/Likely benign 1 -205708 Simple 199526748 C . Uncertain significance 2 2 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-07-27 -0.6 0.5 Uncertain significance 0 -205710 Simple 796052571 T . Likely pathogenic 2 2 Mental retardation, autosomal dominant 6;not provided;Epileptic encephalopathy, early infantile, 27 2017-06-07 6.0 0.5 Likely pathogenic 0 -205715 Simple 141109968 T . Uncertain significance 2 3 Mental retardation, autosomal dominant 6;not specified;not provided;Epileptic encephalopathy, early infantile, 27 2017-07-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -205716 Simple 201963596 T . Uncertain significance 2 2 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2016-11-10 -0.5700000000000001 1.5 Uncertain significance 0 -205729 Simple 145021339 T . Uncertain significance 2 2 not specified;Intellectual Disability, Dominant 2017-01-06 -0.6 1.0 Uncertain significance 0 -205733 Simple 547462953 T . Likely benign 2 2 not specified;Intellectual disability syndrome 2016-06-14 -5.7 1.5 Likely benign 0 -205748 Simple 139615350 C . Likely benign 2 2 Koolen-de Vries syndrome;not specified 2017-07-31 -6.0 0.0 Likely benign 0 -205749 Simple 186818985 C . Benign 2 2 Koolen-de Vries syndrome;not specified 2017-05-23 -11.4 1.0 Benign/Likely benign 1 -205756 Simple 201083879 C . Likely benign 2 2 Koolen-de Vries syndrome;not specified 2017-08-16 -6.0 0.5 Likely benign 0 -205760 Simple 200649587 A . Benign/Likely benign 2 2 not specified;Intellectual disability syndrome 2016-06-14 -7.8 2.0 Likely benign 1 -205772 Simple 141110759 C . Likely benign 2 2 not specified;Intellectual disability syndrome 2017-04-25 -6.0 0.5 Likely benign 0 -205773 Simple 150345690 T . Likely benign 2 3 Koolen-de Vries syndrome;not specified;Intellectual disability syndrome 2017-09-06 -9.0 0.3333333333333333 Benign/Likely benign 1 -205774 Simple 34756740 C . Likely benign 2 3 Koolen-de Vries syndrome;not specified;Intellectual disability syndrome 2017-10-27 -9.0 0.3333333333333333 Benign/Likely benign 1 -205776 Simple 142096969 T . Likely benign 2 3 Koolen-de Vries syndrome;not specified;Intellectual disability syndrome 2017-07-13 -9.0 0.3333333333333333 Benign/Likely benign 1 -205777 Simple 140181991 C . Benign/Likely benign 2 2 Koolen-de Vries syndrome;Intellectual disability syndrome 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -205778 Simple 754362361 T . Benign/Likely benign 2 2 Koolen-de Vries syndrome;not specified 2016-12-07 -7.8 2.0 Likely benign 1 -205781 Simple 62639965 C . Benign 2 2 Koolen-de Vries syndrome;not specified 2017-02-17 -10.8 2.0 Benign/Likely benign 1 -205783 Simple 138565467 T . Likely benign 2 2 Koolen-de Vries syndrome;not specified 2017-06-16 -5.7 1.0 Likely benign 0 -205799 Simple 555819683 C . Benign/Likely benign 2 2 not specified;Intellectual disability syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -205800 Simple 781056926 T . Uncertain significance 2 2 Koolen-de Vries syndrome;not specified 2017-06-16 -0.54 1.5 Uncertain significance 0 -205806 Simple 144882998 C . Benign/Likely benign 2 3 Koolen-de Vries syndrome;not specified;not provided 2017-07-24 -11.7 1.0 Benign/Likely benign 0 -205817 Simple 138457635 A . Uncertain significance 2 2 SeSAME syndrome;not specified 2017-05-30 -0.6 0.5 Uncertain significance 0 -205821 Simple 149615470 A . Uncertain significance 2 2 not specified 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -205823 Simple 146396982 T . Uncertain significance 2 2 SeSAME syndrome;not specified 2017-08-15 -0.6 0.0 Uncertain significance 0 -205824 Simple 142596580 C . Uncertain significance 2 3 SeSAME syndrome;not specified 2017-02-03 -0.87 1.3333333333333333 Uncertain significance 0 -205827 Simple 375361490 T . Uncertain significance 2 2 SeSAME syndrome;not specified 2017-07-02 -0.6 0.5 Uncertain significance 0 -205831 Simple 775450377 A . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-05-15 -10.8 1.5 Benign/Likely benign 1 -205833 Simple 200395340 A . Benign/Likely benign 2 2 not specified;KCNQ2-Related Disorders 2016-06-14 -7.8 2.0 Likely benign 1 -205848 Simple 201701585 G . Benign/Likely benign 2 3 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2016-12-21 -15.0 1.0 Benign/Likely benign 0 -205852 Simple 199621855 C . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-03 -10.8 1.5 Benign/Likely benign 1 -205853 Simple 764525788 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2016-08-15 -7.8 2.0 Likely benign 1 -205864 Simple 796052618 T . Pathogenic/Likely pathogenic 2 2 Early infantile epileptic encephalopathy 7;not provided 2016-06-23 8.1 2.5 Likely pathogenic 1 -205869 Simple 796052623 A . Pathogenic 2 1 Early infantile epileptic encephalopathy 7;not provided 2016-03-31 . 2.0 . 0 -205878 Simple 74315392 A . Pathogenic/Likely pathogenic 2 2 not provided 2016-10-31 9.0 1.0 Pathogenic/Likely pathogenic 0 -205886 Simple 118192211 A . Pathogenic 2 4 Early infantile epileptic encephalopathy 7;not provided;Epileptic encephalopathy;Early infantile epileptic encephalopathy 2017-05-26 24.0 0.5 Pathogenic 0 -205902 Simple 201750561 A . Likely benign 2 3 not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-04-27 -8.7 1.0 Benign/Likely benign 1 -205904 Simple 200872349 A . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2016-11-26 -0.5700000000000001 1.5 Uncertain significance 0 -205913 Simple 759584387 A . Pathogenic 2 1 Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy 7;not provided 2017-02-15 . 1.0 . 0 -205915 Simple 773171451 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 7;not provided;Early infantile epileptic encephalopathy 2017-05-31 12.0 0.5 Pathogenic/Likely pathogenic 1 -205917 Simple 796052653 T . Pathogenic 2 2 Early infantile epileptic encephalopathy 7;not provided 2016-12-27 10.8 2.0 Pathogenic/Likely pathogenic 1 -205921 Simple 796052656 G . Uncertain significance 2 2 not specified 2017-09-20 -0.6 0.0 Uncertain significance 0 -205924 Simple 751334184 C . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -205929 Simple 796052657 - . Pathogenic 2 2 not provided;Early infantile epileptic encephalopathy 2016-01-29 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -205937 Simple 756609768 T . Uncertain significance 2 2 not specified;not provided 2017-05-31 -0.6 0.5 Uncertain significance 0 -205944 Simple 758334927 - . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2017-03-28 -0.51 2.0 Uncertain significance 0 -205945 Simple 796052667 - . Pathogenic 2 2 not provided;Inborn genetic diseases 2014-03-31 9.0 3.5 Pathogenic/Likely pathogenic 1 -205963 Simple 796052676 A . Pathogenic/Likely pathogenic 2 4 Benign familial neonatal seizures 2;not provided 2017-06-08 20.7 0.5 Pathogenic 1 -205970 Simple 149272208 C . Uncertain significance 2 3 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures 2016-08-30 -0.78 2.3333333333333335 Uncertain significance 0 -205972 Simple 773584143 T . Uncertain significance 2 3 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -205984 Simple 181746838 G . Uncertain significance 2 2 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -205985 Simple 112314858 C . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.51 2.5 Uncertain significance 0 -205993 Simple 764544537 T . Uncertain significance 2 2 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures 2017-06-27 -0.6 0.0 Uncertain significance 0 -205999 Simple 772417096 . . Uncertain significance 2 2 not specified 2015-04-14 -0.51 2.5 Uncertain significance 0 -206003 Simple 185511111 G . Uncertain significance 2 3 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures 2016-12-05 -0.8999999999999999 1.0 Uncertain significance 0 -206004 Simple 796052686 A . Likely benign 2 2 Epilepsy, progressive myoclonic 3;not specified 2016-10-24 -5.4 2.0 Likely benign 0 -206006 Simple 142379946 C . Benign/Likely benign 2 2 Epilepsy, progressive myoclonic 3;not specified 2017-04-14 -7.8 1.5 Likely benign 1 -206012 Simple 149255570 C . Uncertain significance 2 2 Epilepsy, progressive myoclonic 3;not specified 2017-04-17 -0.6 0.5 Uncertain significance 0 -206013 Simple 745360140 T . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -206019 Simple 371919994 T . Uncertain significance 2 3 Progressive myoclonic epilepsy;not specified 2016-11-07 -0.87 1.3333333333333333 Uncertain significance 0 -206022 Simple 148862146 T . Benign 2 2 Epilepsy, lateral temporal lobe, autosomal dominant;not specified 2016-01-27 -10.2 2.5 Benign/Likely benign 1 -206044 Simple 761295906 G . Uncertain significance 2 2 not specified;Pyruvate dehydrogenase lipoic acid synthetase deficiency 2016-05-08 -0.54 2.0 Uncertain significance 0 -206054 Simple 144957555 T . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 1;not specified 2017-05-26 -10.5 1.6666666666666667 Benign/Likely benign 0 -206103 Simple 752035001 T . Uncertain significance 2 2 Mental retardation, autosomal dominant 1;not specified 2016-11-01 -0.54 2.0 Uncertain significance 0 -206104 Simple 201334086 A . Uncertain significance 2 2 not specified;Intellectual Disability, Dominant 2017-09-25 -0.6 0.5 Uncertain significance 0 -206112 Simple 139964770 A . Likely benign 2 2 Mental retardation, autosomal dominant 1;not specified 2017-10-10 -6.0 0.0 Likely benign 0 -206115 Simple 148321416 C . Uncertain significance 2 3 Mental retardation, autosomal dominant 1;not specified;Intellectual Disability, Dominant 2017-06-23 -0.84 1.3333333333333333 Uncertain significance 0 -206117 Simple 200395037 C . Uncertain significance 2 2 not specified;Intellectual Disability, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -206122 Simple 200087574 C . Benign/Likely benign 2 2 not specified;Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 2016-06-14 -7.8 2.0 Likely benign 1 -206127 Simple 796052726 G . Uncertain significance 2 3 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;not specified 2017-06-22 -0.81 1.6666666666666667 Uncertain significance 0 -206159 Simple 796052745 C . Uncertain significance 2 2 Ceroid lipofuscinosis neuronal 7;not specified 2017-04-13 -0.51 2.0 Uncertain significance 0 -206161 Simple 191172038 G . Uncertain significance 2 2 Ceroid lipofuscinosis neuronal 7;not specified 2017-06-30 -0.54 1.5 Uncertain significance 0 -206167 Simple 201739608 A . Uncertain significance 2 2 Ceroid lipofuscinosis neuronal 7;not specified 2016-05-30 -0.6 1.0 Uncertain significance 0 -206169 Simple 796052749 G . Uncertain significance 2 2 Ceroid lipofuscinosis neuronal 7;not specified 2016-03-30 -0.5700000000000001 1.5 Uncertain significance 0 -206177 Simple 148907696 A . Benign/Likely benign 2 2 Lafora disease;not specified 2017-08-01 -7.8 1.5 Likely benign 1 -206181 Simple 370044232 T . Uncertain significance 2 2 Lafora disease;not specified 2016-12-19 -0.6 1.0 Uncertain significance 0 -206190 Simple 140850172 T . Uncertain significance 2 2 Lafora disease;not specified 2017-09-19 -0.6 0.0 Uncertain significance 0 -206202 Simple 199714221 T . Benign/Likely benign 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-07-11 -7.8 1.5 Likely benign 1 -206211 Simple 781179797 C . Uncertain significance 2 3 Pitt-Hopkins-like syndrome 2;not specified 2016-11-08 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -206222 Simple 796052769 C . Uncertain significance 2 2 not specified 2016-06-28 -0.6 1.0 Uncertain significance 0 -206228 Simple 201735573 A . Uncertain significance 2 2 not specified 2017-06-27 -0.6 0.0 Uncertain significance 0 -206232 Simple 199978276 A . Uncertain significance 2 2 not specified 2017-06-27 -0.6 0.0 Uncertain significance 0 -206242 Simple 80293130 T . Uncertain significance 2 3 Pitt-Hopkins-like syndrome 2;Schizophrenia 17;not specified 2017-05-23 -0.84 1.0 Uncertain significance 0 -206243 Simple 202074070 C . Uncertain significance 2 3 not specified 2016-10-20 -0.87 1.3333333333333333 Uncertain significance 0 -206245 Simple 199784139 A . Uncertain significance 2 4 Pitt-Hopkins-like syndrome 2;not specified;not provided 2017-07-27 -1.17 0.75 Uncertain significance 0 -206246 Simple 200646155 T . Uncertain significance 2 2 not specified 2015-07-24 -0.48 3.0 Uncertain significance 0 -206250 Simple 796052779 G . Uncertain significance 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-03-22 -0.6 0.5 Uncertain significance 0 -206255 Simple 199980022 A . Uncertain significance 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-03-24 -0.48 2.5 Uncertain significance 0 -206256 Simple 199561088 T . Uncertain significance 2 2 not specified 2016-01-29 -0.48 3.0 Uncertain significance 0 -206260 Simple 201963074 C . Uncertain significance 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-03-05 -0.51 2.0 Uncertain significance 0 -206264 Simple 766942777 A . Uncertain significance 2 2 not specified;not provided 2017-09-26 -0.6 0.5 Uncertain significance 0 -206273 Simple 200604893 T . Uncertain significance 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-04-23 -0.54 1.5 Uncertain significance 0 -206279 Simple 199836119 A . Uncertain significance 2 2 not specified;Pitt-Hopkins-like syndrome 2017-02-24 -0.6 1.0 Uncertain significance 0 -206281 Simple 200672080 A . Uncertain significance 2 4 not specified;Inborn genetic diseases;Pitt-Hopkins-like syndrome 2016-10-24 -1.08 2.0 Uncertain significance 0 -206282 Simple 200935246 G . Uncertain significance 2 2 not specified 2015-08-06 -0.51 2.5 Uncertain significance 0 -206293 Simple 749602848 A . Benign/Likely benign 2 3 Early infantile epileptic encephalopathy 9;not specified 2017-05-26 -13.8 1.3333333333333333 Benign/Likely benign 0 -206295 Simple 200728466 C . Benign/Likely benign 2 2 not specified 2016-07-09 -9.0 1.0 Benign/Likely benign 0 -206300 Simple 776150934 T . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 9;not specified 2016-07-10 -7.8 2.0 Likely benign 1 -206301 Simple 780704524 C . Likely benign 2 2 Early infantile epileptic encephalopathy 9;not specified 2017-04-11 -6.0 0.5 Likely benign 0 -206302 Simple 756818874 T . Uncertain significance 2 2 not specified 2017-09-25 -0.5700000000000001 1.0 Uncertain significance 0 -206306 Simple 370078729 T . Uncertain significance 2 2 not specified 2017-04-27 -0.51 2.0 Uncertain significance 0 -206334 Simple 374593325 A . Benign/Likely benign 2 3 Early infantile epileptic encephalopathy 9;not specified;not provided 2017-03-10 -12.0 0.6666666666666666 Benign/Likely benign 0 -206341 Simple 756414485 A . Pathogenic 2 2 not provided 2017-02-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -206351 Simple 796052828 - . Pathogenic 2 2 Early infantile epileptic encephalopathy 9;not provided 2017-06-30 9.6 2.5 Pathogenic/Likely pathogenic 1 -206353 Simple 758946412 GG . Pathogenic 2 3 Early infantile epileptic encephalopathy 9;not provided 2017-10-04 17.4 1.0 Pathogenic 0 -206360 Simple 796052836 - . Pathogenic 2 2 Early infantile epileptic encephalopathy 9;not provided 2015-03-19 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -206364 Simple 796052839 C . Pathogenic 2 2 Early infantile epileptic encephalopathy 9;not provided 2017-08-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -206386 Simple 570013652 T . Uncertain significance 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-03-29 -0.6 0.5 Uncertain significance 0 -206389 Simple 587784369 C . Uncertain significance 2 2 not specified 2015-09-01 -0.51 2.5 Uncertain significance 0 -206391 Simple 761117623 A . Uncertain significance 2 2 not specified 2017-02-22 -0.5700000000000001 1.5 Uncertain significance 0 -206392 Simple 144257114 T . Uncertain significance 2 2 not specified 2017-03-01 -0.6 1.0 Uncertain significance 0 -206404 Simple 777457079 T . Uncertain significance 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-04-25 -0.51 2.0 Uncertain significance 0 -206407 Simple 756416098 T . Uncertain significance 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-03-16 -0.54 1.5 Uncertain significance 0 -206413 Simple 372459137 T . Uncertain significance 2 3 Early infantile epileptic encephalopathy 12;not specified 2017-06-03 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -206414 Simple 376854895 G . Uncertain significance 2 2 not specified;Epileptic encephalopathy 2016-06-14 -0.51 2.5 Uncertain significance 0 -206421 Simple 201221600 A . Uncertain significance 2 4 Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy 2017-02-23 -1.14 1.5 Uncertain significance 0 -206424 Simple 796052859 AA . Pathogenic/Likely pathogenic 2 2 Early infantile epileptic encephalopathy 12;not provided 2017-06-30 8.7 1.0 Pathogenic/Likely pathogenic 0 -206429 Simple 796052862 CGGCTCGGCT . Pathogenic 2 2 Early infantile epileptic encephalopathy 10;not provided 2016-09-30 10.8 2.0 Pathogenic/Likely pathogenic 1 -206434 Simple 796052865 - . Uncertain significance 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-07-19 -0.54 1.5 Uncertain significance 0 -206435 Simple 796052866 T . Benign/Likely benign 2 2 Pyridoxal 5'-phosphate-dependent epilepsy;not specified 2017-04-12 -7.8 1.5 Likely benign 1 -206441 Simple 145461623 G . Uncertain significance 2 2 Pyridoxal 5'-phosphate-dependent epilepsy;not specified 2017-08-03 -0.6 0.5 Uncertain significance 0 -206443 Simple 781657980 A . Uncertain significance 2 2 not specified 2015-12-03 -0.54 2.0 Uncertain significance 0 -206455 Simple 769125577 T . Uncertain significance 2 2 Pyridoxal 5'-phosphate-dependent epilepsy;not specified 2017-09-28 -0.6 0.5 Uncertain significance 0 -206459 Simple 138727329 A . Uncertain significance 2 2 Pyridoxal 5'-phosphate-dependent epilepsy;not specified 2017-05-18 -0.5700000000000001 1.0 Uncertain significance 0 -206460 Simple 796052872 - . Pathogenic/Likely pathogenic 2 2 Pyridoxal 5'-phosphate-dependent epilepsy;not provided 2015-03-12 7.5 2.5 Likely pathogenic 1 -206470 Simple 551708243 A . Uncertain significance 2 4 Progressive sclerosing poliodystrophy;not specified 2017-07-20 -1.2 0.75 Uncertain significance 0 -206471 Simple 754615624 T . Benign/Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-07-26 -7.8 1.5 Likely benign 1 -206478 Simple 796052874 . . Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2016-01-12 -4.5 3.5 Likely benign 0 -206480 Simple 796052876 - . Benign/Likely benign 2 3 Progressive sclerosing poliodystrophy;not specified 2017-05-16 -10.8 1.3333333333333333 Benign/Likely benign 0 -206481 Simple 756833779 - . Benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-04-20 -11.4 1.0 Benign/Likely benign 1 -206482 Simple 41550117 TGCTGCTGCTGCTGCTGC . Benign/Likely benign 2 4 Progressive sclerosing poliodystrophy;not specified;not provided 2017-03-14 -13.2 1.75 Benign/Likely benign 0 -206484 Simple 41550117 TGCTGCTGCTGC . Benign/Likely benign 2 3 Progressive sclerosing poliodystrophy;not specified;not provided 2017-08-14 -13.8 1.0 Benign/Likely benign 0 -206488 Simple 3087375 G . Benign 2 1 not specified 2014-08-11 . 3.0 . 0 -206492 Simple 562847013 G . Uncertain significance 2 4 Progressive sclerosing poliodystrophy;not specified;Mitochondrial DNA depletion syndrome;Primary progressive multiple sclerosis 2017-09-11 -1.17 1.0 Uncertain significance 0 -206496 Simple 200056162 - . Benign/Likely benign 2 4 Progressive sclerosing poliodystrophy;not specified 2017-07-06 -19.2 1.25 Benign/Likely benign 0 -206509 Simple 776848222 C . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-08-11 -0.6 0.0 Uncertain significance 0 -206516 Simple 138457939 C . Uncertain significance 2 4 Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4B, MNGIE type;not specified 2017-07-05 -1.14 1.0 Uncertain significance 0 -206528 Simple 144500145 A . Pathogenic 2 2 not provided 2017-08-02 12.0 0.0 Pathogenic/Likely pathogenic 1 -206531 Simple 758402960 T . Uncertain significance 2 2 not specified 2015-12-24 -0.54 2.0 Uncertain significance 0 -206543 Simple 202229893 A . Uncertain significance 2 2 not specified 2016-04-12 -0.51 2.5 Uncertain significance 0 -206548 Simple 181860632 A . Pathogenic/Likely pathogenic 2 2 not provided 2017-10-09 8.4 1.0 Pathogenic/Likely pathogenic 0 -206557 Simple 368435864 T . Pathogenic/Likely pathogenic 2 2 Progressive sclerosing poliodystrophy;not provided 2017-05-16 9.0 0.5 Pathogenic/Likely pathogenic 0 -206561 Simple 201144044 C . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-04-11 -0.6 0.5 Uncertain significance 0 -206575 Simple 199751339 A . Uncertain significance 2 2 not specified 2017-03-28 -0.6 0.5 Uncertain significance 0 -206576 Simple 115109291 C . Uncertain significance 2 3 not specified;not provided 2017-07-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -206581 Simple 147282197 G . Uncertain significance 2 2 not specified 2017-06-30 -0.6 0.5 Uncertain significance 0 -206582 Simple 369175235 A . Uncertain significance 2 2 not specified 2016-11-21 -0.5700000000000001 1.5 Uncertain significance 0 -206583 Simple 138929605 A . Uncertain significance 2 4 Progressive sclerosing poliodystrophy;not specified;not provided;POLG-Related Spectrum Disorders 2017-10-05 -1.2 0.25 Uncertain significance 0 -206590 Simple 751221993 A . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2016-11-17 -0.54 2.0 Uncertain significance 0 -206596 Simple 145843073 C . Uncertain significance 2 4 Progressive sclerosing poliodystrophy;not specified 2017-08-09 -1.17 1.0 Uncertain significance 0 -206597 Simple 769637557 G . Uncertain significance 2 2 not specified 2017-06-12 -0.6 0.0 Uncertain significance 0 -206608 Simple 796052908 - . Pathogenic 2 2 Obesity;not provided;Generalized epilepsy;Global developmental delay 2017-04-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -206619 Simple 139599587 A . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-11-03 -0.6 0.5 Uncertain significance 0 -206625 Simple 796052915 T . Uncertain significance 2 2 not specified;POLG-Related Spectrum Disorders 2016-07-27 -0.6 1.0 Uncertain significance 0 -206630 Simple 368614463 C . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-09-01 -0.6 0.0 Uncertain significance 0 -206638 Simple 572153728 C . Benign/Likely benign 2 3 not specified;not provided 2017-05-18 -11.7 1.0 Benign/Likely benign 0 -206639 Simple 146002450 G . Uncertain significance 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -206645 Simple 796052925 A . Pathogenic/Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 1;not provided 2016-03-29 7.8 2.0 Likely pathogenic 1 -206647 Simple 560471003 A . Uncertain significance 2 2 not specified 2016-11-14 -0.54 2.0 Uncertain significance 0 -206648 Simple 370069880 T . Uncertain significance 2 2 Ceroid lipofuscinosis neuronal 1;not specified 2016-06-13 -0.6 1.0 Uncertain significance 0 -206651 Simple 796052927 G . Pathogenic/Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 1;not provided 2016-06-29 7.2 2.5 Likely pathogenic 1 -206652 Simple 35731866 C . Uncertain significance 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2017-09-18 -0.6 0.0 Uncertain significance 0 -206655 Simple 145860632 T . Uncertain significance 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2017-06-16 -0.6 0.0 Uncertain significance 0 -206664 Simple 748636455 T . Uncertain significance 2 3 not specified 2017-01-09 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -206667 Simple 748454609 T . Uncertain significance 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2017-04-19 -0.54 1.5 Uncertain significance 0 -206670 Simple 139901494 G . Uncertain significance 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2017-04-11 -0.6 0.5 Uncertain significance 0 -206671 Simple 771584708 A . Uncertain significance 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -206676 Simple 200171609 C . Uncertain significance 2 3 Progressive myoclonus epilepsy with ataxia;not specified 2017-07-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -206678 Simple 11556732 T . Likely benign 2 4 Dystonia 10;not specified;not provided 2017-08-15 -12.0 0.25 Benign/Likely benign 1 -206679 Simple 199662641 A . Benign 2 2 not specified 2017-05-12 -10.8 1.5 Benign/Likely benign 1 -206688 Simple 200926711 G . Likely benign 2 2 Dystonia 10;not specified 2017-10-03 -6.0 0.5 Likely benign 0 -206689 Simple 76335820 A . Likely benign 2 2 Dystonia 10;not specified 2017-05-08 -6.0 0.5 Likely benign 0 -206696 Simple 796052941 - . Likely pathogenic 2 2 Dystonia 10;not provided 2017-05-16 5.7 1.0 Likely pathogenic 0 -206702 Simple 143655258 C . Benign 2 2 Progressive myoclonic epilepsy;not specified 2017-07-26 -10.8 1.5 Benign/Likely benign 1 -206715 Simple 147324129 G . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-04-12 -0.5700000000000001 1.0 Uncertain significance 0 -206716 Simple 149474488 A . Uncertain significance 2 3 Progressive myoclonic epilepsy;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -206722 Simple 368906199 T . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-04-29 -0.6 0.5 Uncertain significance 0 -206724 Simple 145870223 T . Uncertain significance 2 3 Progressive myoclonic epilepsy;not specified 2017-03-01 -0.8999999999999999 1.0 Uncertain significance 0 -206725 Simple 757535449 G . Benign/Likely benign 2 1 not specified 2015-01-19 . 3.0 . 0 -206734 Simple 141950573 T . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2016-12-14 -0.6 1.0 Uncertain significance 0 -206761 Simple 796052973 C . Pathogenic 2 2 not provided 2015-09-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -206769 Simple 372372558 A . Uncertain significance 2 2 not specified 2015-12-03 -0.51 2.5 Uncertain significance 0 -206774 Simple 149715258 T . Uncertain significance 2 2 not specified 2017-11-08 -0.5700000000000001 1.0 Uncertain significance 0 -206777 Simple 752639991 T . Uncertain significance 2 4 Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy 2016-08-08 -1.1099999999999999 1.75 Uncertain significance 0 -206801 Simple 139397227 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -206812 Simple 146878122 A . Uncertain significance 2 4 not specified;Early infantile epileptic encephalopathy 2017-05-02 -1.17 0.5 Uncertain significance 0 -206816 Simple 796053004 A . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2014-10-24 8.4 4.0 Pathogenic/Likely pathogenic 1 -206826 Simple 768638174 A . Uncertain significance 2 2 not specified 2016-08-18 -0.54 2.0 Uncertain significance 0 -206829 Simple 796053014 C . Pathogenic 2 2 Severe myoclonic epilepsy in infancy;not provided 2014-06-04 9.0 3.5 Pathogenic/Likely pathogenic 1 -206837 Simple 139300715 T . Pathogenic 2 3 Severe myoclonic epilepsy in infancy;not provided 2017-03-01 18.0 1.0 Pathogenic 0 -206875 Simple 201905405 T . Uncertain significance 2 3 not specified;not provided 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -206910 Simple 796053072 ATAT . Pathogenic 2 2 not provided;Early infantile epileptic encephalopathy 2016-12-20 12.0 1.0 Pathogenic/Likely pathogenic 1 -206920 Simple 796053082 TT . Pathogenic 2 2 Seizures;not provided 2016-03-25 10.8 2.0 Pathogenic/Likely pathogenic 1 -206957 Simple 187728892 C . Benign/Likely benign 2 4 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-07-11 -16.8 1.25 Benign/Likely benign 0 -206963 Simple 199897920 G . Benign 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2017-02-07 -10.8 2.0 Benign/Likely benign 1 -206965 Simple 142128956 A . Uncertain significance 2 2 not specified 2016-12-13 -0.5700000000000001 1.5 Uncertain significance 0 -206978 Simple 796053124 T . Pathogenic/Likely pathogenic 2 3 Episodic ataxia;Early infantile epileptic encephalopathy 11;Seizures;not provided;Vertigo 2016-04-01 13.200000000000001 2.6666666666666665 Pathogenic/Likely pathogenic 0 -206981 Simple 796053126 A . Pathogenic/Likely pathogenic 2 1 Early infantile epileptic encephalopathy 11;not provided 2017-07-25 . 0.0 . 0 -206982 Simple 769395683 T . Uncertain significance 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2016-03-01 -0.54 2.0 Uncertain significance 0 -206991 Simple 796053130 T . Pathogenic/Likely pathogenic 2 2 not provided;Epileptic encephalopathy 2016-11-16 7.8 2.0 Likely pathogenic 1 -207017 Simple 796053155 A . Pathogenic 2 2 not provided 2015-11-28 10.2 2.5 Pathogenic/Likely pathogenic 1 -207024 Simple 796053162 A . Likely pathogenic 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided 2017-01-24 5.1 2.5 Likely pathogenic 0 -207033 Simple 200884216 T . Uncertain significance 2 4 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-02-21 -1.2 1.0 Uncertain significance 0 -207047 Simple 761906987 G . Uncertain significance 2 3 Benign familial neonatal-infantile seizures;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -207050 Simple 796053178 G . Pathogenic 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided 2017-06-22 10.2 2.0 Pathogenic/Likely pathogenic 1 -207088 Simple 796053203 G . Pathogenic/Likely pathogenic 2 2 not provided 2016-05-18 7.5 3.5 Likely pathogenic 1 -207091 Simple 143734912 T . Uncertain significance 2 2 not specified 2017-10-24 -0.6 0.0 Uncertain significance 0 -207096 Simple 187115247 G . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-04-14 -10.8 1.5 Benign/Likely benign 1 -207097 Simple 376749872 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-28 -7.8 1.5 Likely benign 1 -207098 Simple 535061303 A . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -207114 Simple 769243993 A . Uncertain significance 2 2 not specified 2017-10-23 -0.6 0.5 Uncertain significance 0 -207131 Simple 796053228 T . Pathogenic/Likely pathogenic 2 3 Early infantile epileptic encephalopathy 13;not provided;Epileptic encephalopathy;Early infantile epileptic encephalopathy 2016-11-16 13.8 2.0 Pathogenic/Likely pathogenic 0 -207133 Simple 368796221 C . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2017-05-16 -0.54 1.5 Uncertain significance 0 -207134 Simple 371766742 C . Uncertain significance 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-06-14 -0.8099999999999999 1.6666666666666667 Uncertain significance 0 -207136 Simple 369346315 A . Uncertain significance 2 2 not specified 2016-08-01 -0.5700000000000001 1.5 Uncertain significance 0 -207142 Simple 202006479 A . Uncertain significance 2 2 not specified;not provided 2017-05-12 -0.6 0.5 Uncertain significance 0 -207151 Simple 199887745 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2016-10-18 -7.8 2.0 Likely benign 1 -207157 Simple 143064022 C . Uncertain significance 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2017-05-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -207176 Simple 374216522 A . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2017-04-20 -0.54 1.5 Uncertain significance 0 -207178 Simple 375001117 G . Benign/Likely benign 2 3 Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -207193 Simple 796053248 A . Pathogenic 2 3 GLUT1 deficiency syndrome 1, autosomal recessive;not provided 2017-08-11 18.0 0.0 Pathogenic 0 -207196 Simple 80359826 A . Pathogenic/Likely pathogenic 2 2 GLUT1 deficiency syndrome 1, autosomal recessive;Seizure Disorders;not provided;Microcephaly;intellectual deficiency 2016-12-08 11.4 1.5 Pathogenic/Likely pathogenic 0 -207201 Simple 796053253 A . Pathogenic 2 2 GLUT1 deficiency syndrome 1, autosomal recessive;not provided 2017-03-04 12.0 1.0 Pathogenic/Likely pathogenic 1 -207212 Simple 796053263 A . Pathogenic 2 2 GLUT1 deficiency syndrome 1, autosomal recessive;not provided 2016-07-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -207214 Simple 138139624 T . Uncertain significance 2 3 not specified 2016-12-06 -0.87 1.3333333333333333 Uncertain significance 0 -207229 Simple 80359823 A . Pathogenic 2 2 GLUT1 deficiency syndrome 1;not provided 2016-08-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -207234 Simple 142161862 G . Likely benign 2 2 not specified 2017-06-22 -6.0 0.5 Likely benign 0 -207244 Simple 796053286 C . Uncertain significance 2 2 not specified 2016-04-25 -0.54 2.0 Uncertain significance 0 -207265 Simple 770046688 G . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-02-17 -6.0 1.0 Likely benign 0 -207267 Simple 769094437 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-05-23 -8.1 2.0 Likely benign 1 -207275 Simple 759833805 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-04-17 -7.8 1.5 Likely benign 1 -207278 Simple 551595039 - . Benign/Likely benign 2 3 not specified 2014-04-22 -11.7 3.3333333333333335 Benign/Likely benign 0 -207280 Simple 141696651 C . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-10-17 -6.0 0.5 Likely benign 0 -207289 Simple 148554113 T . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-08 -7.8 1.5 Likely benign 1 -207290 Simple 763156575 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2016-12-15 -7.8 2.0 Likely benign 1 -207301 Simple 201411901 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-06-20 -9.0 0.5 Benign/Likely benign 0 -207309 Simple 770948927 - . Benign/Likely benign 2 3 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -11.4 3.0 Benign/Likely benign 0 -207352 Simple 796053323 T . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.54 2.0 Uncertain significance 0 -207370 Simple 796053335 GCATGCGCATGC . Pathogenic 2 2 not provided;Epileptic encephalopathy 2016-11-16 10.2 2.5 Pathogenic/Likely pathogenic 1 -207371 Simple 150552508 A . Benign 2 3 Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked;not specified 2016-11-01 -16.2 2.0 Benign/Likely benign 1 -207374 Simple 552623597 G . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2016-11-19 -0.54 2.0 Uncertain significance 0 -207376 Simple 148402616 T . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2016-10-06 -0.54 2.0 Uncertain significance 0 -207380 Simple 796053340 - . Pathogenic/Likely pathogenic 2 2 not provided;Focal epilepsy 2017-06-12 9.0 0.5 Pathogenic/Likely pathogenic 0 -207388 Simple 141168255 C . Uncertain significance 2 2 not specified 2017-03-07 -0.5700000000000001 1.0 Uncertain significance 0 -207401 Simple 796053348 - . Benign 2 1 not specified 2014-03-19 . 3.0 . 0 -207405 Simple 200802985 T . Likely benign 2 3 not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-03-09 -8.7 1.0 Benign/Likely benign 1 -207406 Simple 748770943 T . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-03-20 -7.8 1.5 Likely benign 1 -207415 Simple 796053353 T . Pathogenic 2 2 Early infantile epileptic encephalopathy 4;not provided 2017-09-06 12.0 0.5 Pathogenic/Likely pathogenic 1 -207417 Simple 796053355 T . Pathogenic 2 2 Early infantile epileptic encephalopathy 4;not provided;Early infantile epileptic encephalopathy 2017-05-31 12.0 0.0 Pathogenic/Likely pathogenic 1 -207424 Simple 796053361 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 4;not provided 2017-11-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -207429 Simple 796053366 T . Pathogenic 2 3 not provided;Epileptic encephalopathy;Early infantile epileptic encephalopathy 2017-06-02 18.0 0.6666666666666666 Pathogenic 0 -207431 Simple 796053367 T . Pathogenic 2 2 not provided;Epileptic encephalopathy 2016-11-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -207432 Simple 796053368 T . Pathogenic 2 2 Early infantile epileptic encephalopathy 4;not provided;Early infantile epileptic encephalopathy 2017-11-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -207440 Simple 796053373 T . Pathogenic 2 2 Early infantile epileptic encephalopathy 4;not provided 2017-01-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -207444 Simple 796053377 A . Pathogenic 2 2 not provided;STXBP1-associated neurodevelopmental disorder 2017-07-11 9.6 2.5 Pathogenic/Likely pathogenic 1 -207463 Simple 141925310 A . Benign/Likely benign 2 3 Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified 2016-11-30 -13.5 2.0 Benign/Likely benign 0 -207464 Simple 199844514 T . Benign/Likely benign 2 2 Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified 2017-06-16 -7.2 2.0 Likely benign 1 -207465 Simple 371739376 A . Likely benign 2 2 Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified 2017-04-20 -5.4 1.5 Likely benign 0 -207485 Simple 776459372 A . Benign/Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-04-25 -7.8 1.5 Likely benign 1 -207486 Simple 148670169 T . Benign 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-07-05 -10.8 1.5 Benign/Likely benign 1 -207490 Simple 370427146 G . Benign 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-02-17 -10.8 2.0 Benign/Likely benign 1 -207497 Simple 201174513 A . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-04-23 -0.6 0.5 Uncertain significance 0 -207499 Simple 376712059 A . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-07-03 -0.6 0.5 Uncertain significance 0 -207511 Simple 188124777 C . Uncertain significance 2 2 not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -207513 Simple 796053405 A . Uncertain significance 2 2 not specified 2015-05-05 -0.51 2.5 Uncertain significance 0 -207514 Simple 367710709 C . Uncertain significance 2 2 not specified 2017-05-18 -0.54 1.5 Uncertain significance 0 -207519 Simple 199700840 A . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-06-01 -0.6 0.5 Uncertain significance 0 -207529 Simple 796053413 T . Uncertain significance 2 2 Pitt-Hopkins syndrome;not specified 2017-02-28 -0.54 2.0 Uncertain significance 0 -207551 Simple 148064565 C . Uncertain significance 2 2 not specified 2017-04-07 -0.6 0.5 Uncertain significance 0 -207558 Simple 142163063 T . Uncertain significance 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -207560 Simple 138448968 T . Uncertain significance 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-08-23 -0.6 0.5 Uncertain significance 0 -207561 Simple 202189057 T . Pathogenic 2 3 Neuronal ceroid lipofuscinosis;not provided;Inborn genetic diseases 2017-06-19 14.4 2.6666666666666665 Pathogenic/Likely pathogenic 1 -207563 Simple 778900807 A . Uncertain significance 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 -0.51 2.5 Uncertain significance 0 -207571 Simple 775217501 C . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-05-30 -0.54 2.0 Uncertain significance 0 -207577 Simple 34758634 A . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-07-19 -12.0 0.3333333333333333 Benign/Likely benign 0 -207580 Simple 757953998 T . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-05-11 -0.6 0.5 Uncertain significance 0 -207582 Simple 796053439 C . Pathogenic 2 2 Ceroid lipofuscinosis neuronal 2;not provided 2015-02-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -207586 Simple 750428882 A . Pathogenic/Likely pathogenic 2 2 Neuronal ceroid lipofuscinosis;not provided 2017-05-24 9.0 0.5 Pathogenic/Likely pathogenic 0 -207588 Simple 796053442 C . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-11-30 -0.54 2.0 Uncertain significance 0 -207589 Simple 780670020 C . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-11-30 -0.6 1.0 Uncertain significance 0 -207611 Simple 751247705 A . Benign/Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-07-20 -9.0 0.0 Benign/Likely benign 0 -207613 Simple 748901883 T . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2017-07-20 -0.6 0.5 Uncertain significance 0 -207614 Simple 142662480 T . Benign/Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-07-03 -7.8 1.5 Likely benign 1 -207633 Simple 371908551 T . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2017-05-04 -0.51 2.0 Uncertain significance 0 -207636 Simple 796053460 C . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2017-04-21 -0.48 2.5 Uncertain significance 0 -207637 Simple 780224196 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.51 2.0 Uncertain significance 0 -207638 Simple 796053461 T . Uncertain significance 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.81 1.6666666666666667 Uncertain significance 0 -207639 Simple 796053450 A . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2017-06-16 -0.54 1.5 Uncertain significance 0 -207642 Simple 753388676 A . Benign/Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-05-17 -8.7 1.0 Benign/Likely benign 0 -207644 Simple 779599439 A . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2016-08-22 -0.51 2.5 Uncertain significance 0 -207648 Simple 796053467 A . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2016-03-05 -0.54 2.0 Uncertain significance 0 -207656 Simple 201525586 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -13.8 1.3333333333333333 Benign/Likely benign 0 -207666 Simple 569518378 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -16.8 1.0 Benign/Likely benign 0 -207668 Simple 372555496 T . Benign/Likely benign 2 1 not specified 2014-06-02 . 3.0 . 0 -207672 Simple 377300009 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -13.2 2.0 Benign/Likely benign 0 -207674 Simple 566118686 G . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-15 -8.1 2.0 Likely benign 1 -207681 Simple 201688447 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-05-06 -7.8 1.5 Likely benign 1 -207685 Simple 376946970 A . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -0.84 1.3333333333333333 Uncertain significance 0 -207686 Simple 371195832 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-15 -6.6 2.5 Likely benign 1 -207688 Simple 796053477 - . Benign/Likely benign 2 1 not specified 2014-07-28 . 3.0 . 0 -207690 Simple 757221445 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-27 -0.5700000000000001 1.5 Uncertain significance 0 -207691 Simple 796053478 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2016-06-10 -7.8 2.0 Likely benign 1 -207694 Simple 147147042 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -13.5 1.6666666666666667 Benign/Likely benign 0 -207707 Simple 755631210 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.5 Uncertain significance 0 -207711 Simple 45517148 A . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2016-01-26 -0.75 2.6666666666666665 Uncertain significance 0 -207713 Simple 796053485 T . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2016-09-28 -0.84 1.6666666666666667 Uncertain significance 0 -207715 Simple 796053486 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-03-08 -0.51 2.0 Uncertain significance 0 -207717 Simple 772834557 G . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-05-11 -0.48 2.5 Uncertain significance 0 -207719 Simple 372681603 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2016-04-16 -0.54 2.0 Uncertain significance 0 -207720 Simple 45471596 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-03-29 -0.51 2.0 Uncertain significance 0 -207725 Simple 370553131 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2016-10-05 -0.51 2.5 Uncertain significance 0 -207726 Simple 767770242 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-04 -0.54 2.0 Uncertain significance 0 -207727 Simple 766442736 A . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -207740 Simple 766200310 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-08-02 -0.54 1.5 Uncertain significance 0 -207741 Simple 796053492 A . Uncertain significance 2 4 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -1.17 1.0 Uncertain significance 0 -207743 Simple 796053493 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-05-18 -0.48 2.5 Uncertain significance 0 -207745 Simple 796053495 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-04-29 -0.6 0.5 Uncertain significance 0 -207746 Simple 45517297 G . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-07-21 -0.6 0.5 Uncertain significance 0 -207749 Simple 149340262 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-07-19 -0.54 1.5 Uncertain significance 0 -207750 Simple 397515035 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-01-13 -0.51 2.5 Uncertain significance 0 -207755 Simple 796053498 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-08-09 -0.6 0.5 Uncertain significance 0 -207757 Simple 760457821 T . Uncertain significance 2 2 not specified 2015-10-16 -0.45 3.5 Uncertain significance 0 -207758 Simple 150558493 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-06-07 -0.48 2.5 Uncertain significance 0 -207760 Simple 373365980 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-10-26 -0.6 0.0 Uncertain significance 0 -207761 Simple 762320484 G . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2016-04-16 -0.51 2.5 Uncertain significance 0 -207763 Simple 777166275 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-01-13 -0.48 3.0 Uncertain significance 0 -207769 Simple 139060277 T . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-07-13 -6.0 0.5 Likely benign 0 -207771 Simple 45502703 A . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2016-09-07 -0.8099999999999999 2.0 Uncertain significance 0 -207775 Simple 796053505 TT . Pathogenic/Likely pathogenic 2 2 not provided 2017-05-12 7.2 2.0 Likely pathogenic 1 -207786 Simple 760395277 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-03-05 -0.6 0.5 Uncertain significance 0 -207817 Simple 796052235 A . Pathogenic/Likely pathogenic 2 2 not provided 2017-06-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -207828 Simple 796052243 - . Likely pathogenic 2 2 not provided;Epilepsy, hearing loss, and mental retardation syndrome 2017-09-08 6.0 0.0 Likely pathogenic 0 -207970 Simple 878854348 C . Pathogenic 2 2 Long QT syndrome 1;Long QT syndrome 2016-11-04 9.0 3.5 Pathogenic/Likely pathogenic 1 -207973 Simple 878854350 G . Pathogenic/Likely pathogenic 2 2 Long QT syndrome 1;Long QT syndrome 2017-03-08 6.0 3.5 Likely pathogenic 1 -208160 Simple 797045164 A . Pathogenic 2 2 PEHO syndrome;Mental retardation, autosomal dominant 9 2017-03-16 11.4 1.0 Pathogenic/Likely pathogenic 1 -208163 Simple 864621968 G . Pathogenic 2 2 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;not provided 2016-06-09 11.4 1.5 Pathogenic/Likely pathogenic 1 -208197 Simple 796064513 - . Uncertain significance 2 2 Methylmalonic acidemia with homocystinuria;Disorders of Intracellular Cobalamin Metabolism;not provided 2017-02-28 -0.6 1.0 Uncertain significance 0 -208421 Simple 797044987 C . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -208567 Simple 147118493 A . Pathogenic/Likely pathogenic 2 2 Achromatopsia 2;not provided 2016-03-15 8.4 2.0 Pathogenic/Likely pathogenic 0 -208570 Simple 137853943 A . Pathogenic 2 2 Osteogenesis imperfecta type 7;not provided 2016-02-19 10.2 2.5 Pathogenic/Likely pathogenic 1 -208575 Simple 113994012 T . Pathogenic/Likely pathogenic 2 3 Leukoencephalopathy with vanishing white matter;not provided 2017-01-30 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -208578 Simple 797045089 T . Pathogenic/Likely pathogenic 2 2 Retinitis pigmentosa 25;not provided 2016-07-31 7.8 2.0 Likely pathogenic 1 -208580 Simple 772359099 - . Pathogenic 2 2 Fanconi anemia, complementation group A;not provided 2015-09-04 10.2 2.5 Pathogenic/Likely pathogenic 1 -208584 Simple 192044702 G . Pathogenic/Likely pathogenic 2 5 Glycogen storage disease, type IV;not provided;GBE1-Related Disorders 2017-03-23 25.2 1.4 Pathogenic 1 -208585 Simple 199678034 T . Uncertain significance 2 3 Congenital myasthenic syndrome 12;not provided 2017-05-31 -0.84 1.0 Uncertain significance 0 -208587 Simple 201115371 A . Pathogenic 2 3 Testosterone 17-beta-dehydrogenase deficiency;not provided;Pseudohermaphroditism 2017-10-05 16.8 1.3333333333333333 Pathogenic 0 -208593 Simple 797045093 A . Pathogenic 2 2 Acrocallosal syndrome, Schinzel type 2015-02-23 9.6 3.0 Pathogenic/Likely pathogenic 1 -208600 Simple 199947197 C . Pathogenic/Likely pathogenic 2 3 Short rib-polydactyly syndrome, Majewski type;not provided 2017-10-04 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -208604 Simple 797045101 - . Pathogenic 2 2 Autosomal recessive polycystic kidney disease;not provided 2015-04-10 10.2 2.5 Pathogenic/Likely pathogenic 1 -208608 Simple 774122562 A . Pathogenic 2 2 Pigmentary retinal dystrophy;not provided 2017-08-28 10.8 1.5 Pathogenic/Likely pathogenic 1 -208611 Simple 797045106 - . Pathogenic/Likely pathogenic 2 4 Severe autosomal recessive muscular dystrophy of childhood - North African type 2017-06-20 19.2 1.5 Pathogenic 1 -208626 Simple 863225458 - . Pathogenic 2 2 Congenital muscular hypertrophy-cerebral syndrome;not provided 2016-04-08 11.4 1.5 Pathogenic/Likely pathogenic 1 -208636 Simple 797045114 - . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-08-03 7.5 3.0 Likely pathogenic 1 -208638 Simple 762902309 - . Likely pathogenic 2 2 Fanconi anemia, complementation group A 2016-11-02 5.1 2.5 Likely pathogenic 0 -208644 Simple 797044850 G . Pathogenic 2 3 Spastic paraplegia 4, autosomal dominant;not provided;Inborn genetic diseases 2017-04-28 17.4 1.0 Pathogenic 0 -208648 Simple 797044854 T . Pathogenic 2 1 not provided;Inborn genetic diseases 2017-04-21 . 0.0 . 0 -208649 Simple 374873057 A . Uncertain significance 2 5 Hereditary sensory and autonomic neuropathy type II;not specified;Inborn genetic diseases;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-05-28 -1.5 0.8 Uncertain significance 0 -208664 Simple 797044868 A . Pathogenic/Likely pathogenic 2 3 N-terminal acetyltransferase deficiency;not provided;Inborn genetic diseases 2016-08-04 14.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -208671 Simple 797044872 T . Pathogenic 2 2 not provided;Inborn genetic diseases 2017-02-09 10.2 2.5 Pathogenic/Likely pathogenic 1 -208673 Simple 797044874 A . Pathogenic 2 2 not provided;Inborn genetic diseases 2017-10-24 10.8 1.5 Pathogenic/Likely pathogenic 1 -208684 Simple 797044883 A . Pathogenic/Likely pathogenic 2 1 not provided;Schaaf-yang syndrome;Inborn genetic diseases 2017-09-26 . 2.0 . 0 -208695 Simple 797044890 T . Pathogenic 2 1 not provided;Inborn genetic diseases 2016-05-03 . 1.0 . 0 -208709 Simple 797044901 A . Pathogenic 2 2 not provided;Inborn genetic diseases 2016-04-18 10.2 2.5 Pathogenic/Likely pathogenic 1 -208723 Simple 797044910 G . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-06-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -208729 Simple 539407162 C . Pathogenic/Likely pathogenic 2 2 Kaufman oculocerebrofacial syndrome;Inborn genetic diseases 2017-11-08 8.1 2.0 Likely pathogenic 1 -208752 Simple 184770596 G . Uncertain significance 2 2 not specified;Inborn genetic diseases 2017-10-19 -0.54 1.5 Uncertain significance 0 -208759 Simple 797044936 GG . Pathogenic 2 1 22q13.3 deletion syndrome;not provided;Inborn genetic diseases 2016-03-23 . 1.0 . 0 -208777 Simple 797044951 A . Pathogenic 2 2 not provided;Inborn genetic diseases;Neurodevelopmental disorder with involuntary movements 2017-07-25 10.2 2.0 Pathogenic/Likely pathogenic 1 -208783 Simple 202166915 A . Likely benign 2 2 not specified;Inborn genetic diseases 2016-08-24 -6.0 1.0 Likely benign 0 -208823 Simple 752298579 A . Pathogenic 2 2 Cardiac arrhythmia;Intellectual functioning disability;Seizures;Episodic flaccid weakness;Acute rhabdomyolysis;TANGO2-Related Metabolic Encephalopathy and Arrhythmias 2017-04-13 11.4 1.5 Pathogenic/Likely pathogenic 1 -208853 Simple 797045139 T . Pathogenic 2 2 Neurofibromatosis, type 1;not provided 2017-07-28 12.0 0.0 Pathogenic/Likely pathogenic 1 -208854 Simple 771529172 T . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -208997 Simple 145742175 A . Pathogenic 2 3 Kartagener syndrome;Primary ciliary dyskinesia 23 2016-12-20 15.600000000000001 2.3333333333333335 Pathogenic 0 -209020 Simple 144327167 A . Likely benign 2 2 Treacher Collins syndrome 1;not provided;Treacher Collins Syndrome, Dominant 2017-06-02 -6.0 0.5 Likely benign 0 -209027 Simple 113299143 A . Benign/Likely benign 2 3 Treacher Collins syndrome 1;not specified;Treacher Collins Syndrome, Dominant 2017-08-01 -11.7 1.0 Benign/Likely benign 0 -209036 Simple 142965998 A . Benign/Likely benign 2 1 Treacher Collins syndrome 1;not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -209045 Simple 397508416 C . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209046 Simple 387906359 ATAT . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209047 Haplotype 78655421 A ['78655421|A', '1805177|None'] Pathogenic 3 0 Cystic fibrosis . . . . 0 -209047 Haplotype 1805177 . ['78655421|A', '1805177|None'] Pathogenic 3 0 Cystic fibrosis . . . . 0 -209048 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209049 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209050 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209051 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209052 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209053 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209055 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209056 Simple 797045159 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209057 Simple 397508533 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209058 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209059 Simple 797045160 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209060 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209061 Simple 797045161 - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209062 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209063 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209064 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209065 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209067 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -209115 Simple 879255583 T . Pathogenic 2 3 not provided;CLCN4-related disorder 2016-11-15 18.0 1.0 Pathogenic 0 -209117 Simple 879255585 A . Pathogenic/Likely pathogenic 2 2 not provided;CLCN4-related disorder 2016-03-22 8.7 1.5 Pathogenic/Likely pathogenic 0 -209127 Simple 781764920 T . Pathogenic 2 3 Paragangliomas 5;not provided;Hereditary cancer-predisposing syndrome 2017-11-02 18.0 0.0 Pathogenic 0 -209130 Simple 746709222 T . Pathogenic 2 2 Cataract and cardiomyopathy;not provided 2017-09-18 10.2 2.0 Pathogenic/Likely pathogenic 1 -209131 Simple 797045027 - . Pathogenic 2 2 KBG syndrome;not provided 2017-09-26 9.6 2.5 Pathogenic/Likely pathogenic 1 -209134 Simple 797045030 AA . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-13 16.8 1.3333333333333333 Pathogenic 0 -209139 Simple 797045032 TC . Pathogenic/Likely pathogenic 2 4 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;not provided 2017-07-31 19.5 1.5 Pathogenic 1 -209144 Simple 797045036 G . Pathogenic/Likely pathogenic 2 2 Mental retardation, autosomal recessive 2;not provided 2017-09-01 5.4 2.0 Likely pathogenic 1 -209145 Simple 797045037 C . Pathogenic/Likely pathogenic 2 2 Rubinstein-Taybi syndrome;not provided 2017-09-13 8.1 2.0 Likely pathogenic 1 -209146 Simple 797045038 - . Pathogenic 2 4 Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities;not provided 2017-03-03 22.2 1.75 Pathogenic 0 -209149 Simple 761899995 GG . Pathogenic 2 2 Myasthenia, limb-girdle, familial;not provided 2016-08-04 10.8 2.0 Pathogenic/Likely pathogenic 1 -209150 Simple 797045041 A . Pathogenic/Likely pathogenic 2 2 Mental retardation, autosomal dominant 7;not provided 2016-12-19 8.1 2.5 Likely pathogenic 1 -209153 Simple 200440128 A . Pathogenic 2 4 not provided;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-11-07 21.6 1.5 Pathogenic 0 -209159 Simple 797045047 C . Pathogenic/Likely pathogenic 2 2 Mental retardation, autosomal dominant 8;not provided 2018-02-22 8.4 1.5 Pathogenic/Likely pathogenic 0 -209165 Simple 797045050 T . Pathogenic/Likely pathogenic 2 2 not provided;Spastic paraplegia 2015-12-17 7.5 3.0 Likely pathogenic 1 -209179 Simple 201430951 C . Pathogenic/Likely pathogenic 2 2 Mitochondrial complex I deficiency;Inborn genetic diseases 2013-08-27 5.7 4.5 Likely pathogenic 1 -209188 Simple 797045067 - . Pathogenic 2 2 Spinocerebellar ataxia autosomal recessive 1 2014-04-04 9.0 3.5 Pathogenic/Likely pathogenic 1 -209189 Simple 797045068 C . Likely pathogenic 2 2 Spinocerebellar ataxia autosomal recessive 1 2014-04-04 4.5 3.5 Likely pathogenic 0 -209204 Simple 371295780 G . Likely pathogenic 2 2 Pontocerebellar hypoplasia type 1A;not provided 2017-07-10 5.1 2.0 Likely pathogenic 0 -209207 Simple 797045076 - . Pathogenic/Likely pathogenic 2 2 Diabetes mellitus AND insipidus with optic atrophy AND deafness;not provided 2017-03-02 8.4 1.5 Pathogenic/Likely pathogenic 0 -209216 Simple 797044975 C . Benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-08-10 -8.940000000000001 1.5 Benign/Likely benign 1 -209217 Simple 797044976 A . Benign 3 2 Breast-ovarian cancer, familial 2;not specified 2015-08-10 -8.940000000000001 1.5 Benign/Likely benign 1 -209218 Simple 753244927 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-08-10 . 2.0 . 0 -209219 Simple 78603756 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209220 Simple 150356989 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209221 Simple 35578914 AT . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209222 Simple 112222971 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209223 Simple 138528005 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209224 Simple 13342026 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209225 Simple 78612526 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209226 Simple 8071278 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209227 Simple 7223952 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209228 Simple 11659028 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209229 Simple 116585239 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209230 Simple 8176323 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209231 Simple 8176322 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209232 Simple 8176320 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209233 Simple 111791349 T . Benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-01-12 -8.280000000000001 2.0 Likely benign 2 -209234 Simple 8176318 A . Benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-01-12 -8.280000000000001 2.0 Likely benign 2 -209235 Simple 56108540 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209236 Simple 181430678 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209237 Simple 147297981 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209238 Simple 8176314 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209239 Simple 139237482 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209240 Simple 8176313 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209241 Simple 8176312 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209242 Simple 8068463 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209243 Simple 8176310 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209244 Simple 4793190 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209245 Simple 200225694 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209246 Simple 200489356 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209247 Simple 4792972 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209248 Simple 8176305 C . Benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 -10.68 2.5 Benign/Likely benign 1 -209249 Simple 8176304 T . Benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 -10.68 2.5 Benign/Likely benign 1 -209250 Simple 8176303 C . Benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 -10.68 2.5 Benign/Likely benign 1 -209251 Simple 55633264 T . Benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 -10.68 2.5 Benign/Likely benign 1 -209252 Simple 3092988 T . Benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 -10.68 2.5 Benign/Likely benign 1 -209253 Simple 12949768 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209254 Simple 11079053 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209255 Simple 35805899 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209256 Simple 8070179 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209257 Simple 8176298 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209258 Simple 201644509 TT . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209259 Simple 8176297 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209260 Simple 8176296 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209261 Simple 143338062 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209262 Simple 148509734 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209263 Simple 113892722 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209264 Simple 150614759 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209265 Simple 111563453 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209266 Simple 4793191 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209267 Simple 4793192 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209268 Simple 114112971 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209269 Simple 34685631 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209270 Simple 17671533 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209271 Simple 117151230 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209272 Simple 8176295 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209273 Simple 149958317 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209274 Simple 8176293 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209275 Simple 182249140 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209276 Simple 6503725 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209277 Simple 8176290 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209278 Simple 7212284 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209279 Simple 8176289 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209280 Simple 78695654 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209281 Simple 143042094 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209282 Simple 8176287 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209283 Simple 62076408 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209284 Simple 36113921 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209285 Simple 116703787 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209286 Simple 112757145 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209287 Simple 8176286 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209288 Simple 201212001 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209289 Simple 111611613 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209290 Simple 149635371 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209291 Simple 8176282 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209292 Simple 8176281 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209293 Simple 8176280 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209294 Simple 8066171 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209295 Simple 146318688 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209296 Simple 8176279 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209297 Simple 8176278 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209298 Simple 8176276 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209299 Simple 181752925 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209300 Simple 142638930 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209301 Simple 8176273 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209302 Simple 185244474 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209303 Simple 11652377 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209304 Simple 146959162 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209305 Simple 4793193 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209306 Simple 35330014 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209307 Simple 111581719 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209308 Simple 8077486 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209309 Simple 115522763 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209310 Simple 141915184 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209311 Simple 146299550 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209312 Simple 139650794 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209313 Simple 8176269 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209314 Simple 8176268 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209315 Simple 8176267 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209316 Simple 8176266 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209317 Simple 2187603 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209318 Simple 8176265 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209319 Simple 8176264 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209320 Simple 8176263 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209321 Simple 186955850 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209322 Simple 8176257 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209323 Simple 8176256 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209324 Simple 8176255 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209325 Simple 8176254 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209326 Simple 8176252 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209327 Simple 3785546 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209328 Simple 8176250 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209329 Simple 8176248 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209330 Simple 8176247 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209331 Simple 8176246 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209332 Simple 8176245 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209333 Simple 8176244 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209334 Simple 8176243 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209335 Simple 8176242 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209336 Simple 4793194 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209337 Simple 8176240 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209338 Simple 8176239 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209339 Simple 112966361 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209340 Simple 4793195 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209341 Simple 142829210 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209342 Simple 8176238 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209343 Simple 139793550 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209344 Simple 8176237 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209345 Simple 8176236 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209346 Simple 147144902 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209347 Simple 71379207 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209348 Simple 142117419 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209349 Simple 113814958 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209350 Simple 8176231 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209351 Simple 8176229 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209352 Simple 8176228 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209353 Simple 145869415 T . Benign 3 1 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 . 3.0 . 0 -209354 Simple 8176226 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209355 Simple 8176225 A . Benign 3 1 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 . 3.0 . 0 -209356 Simple 8176222 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209357 Simple 8176221 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209358 Simple 8176220 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209359 Simple 3092987 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209360 Simple 200424092 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209361 Simple 183687995 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209362 Simple 138082324 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209363 Simple 111499627 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209364 Simple 74877299 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209365 Simple 5820482 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209366 Simple 8176217 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209367 Simple 182629224 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209368 Simple 8176216 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209369 Simple 8176215 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209370 Simple 190123841 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209371 Simple 8176214 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209372 Simple 2236763 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209373 Simple 8176213 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209374 Simple 273900734 C . Benign 3 1 Breast-ovarian cancer, familial 1;not specified 2015-01-12 . 3.0 . 0 -209375 Simple 2236762 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209376 Simple 34250703 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209377 Simple 8176209 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209378 Simple 8176207 GGAA . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209379 Simple 181392764 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209380 Simple 56295923 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209381 Simple 8176206 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209382 Simple 12940378 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209383 Simple 8176205 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209384 Simple 11368665 TT . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209385 Simple 4239147 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209386 Simple 4239148 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209387 Simple 4318274 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209388 Simple 117089582 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209389 Simple 8176202 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209390 Simple 8176201 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209391 Simple 8176200 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209392 Simple 8176199 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209393 Simple 8176198 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209394 Simple 111819895 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209395 Simple 8176197 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209396 Simple 8176196 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209397 Simple 147065412 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209398 Simple 8176194 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209399 Simple 8176193 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209400 Simple 8176192 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209401 Simple 4793197 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209402 Simple 77008361 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209403 Simple 143578208 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209404 Simple 8176190 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209405 Simple 8176188 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209406 Simple 200147389 AA . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209407 Simple 77473713 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209408 Simple 8176187 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209409 Simple 150670602 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209410 Simple 8176186 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209411 Simple 8176185 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209412 Simple 75754723 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209413 Simple 8067269 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209414 Simple 8176182 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209415 Simple 8176181 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209416 Simple 8176178 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209417 Simple 8176177 C . Benign 3 1 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 . 3.0 . 0 -209418 Simple 8176176 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209419 Simple 8176175 AA . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209420 Simple 3950989 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209421 Simple 8176174 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209422 Simple 151196052 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209423 Simple 8176173 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209424 Simple 8176171 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209425 Simple 8176170 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209426 Simple 8176168 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209427 Simple 8176166 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209428 Simple 147509580 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209429 Simple 8176165 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209430 Simple 8176163 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209431 Simple 8176162 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209432 Simple 8176161 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209433 Simple 8176160 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209434 Simple 201979969 TC . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209435 Simple 34293035 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209436 Simple 200781379 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209437 Simple 200098203 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209438 Simple 77684117 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209439 Simple 2070834 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209440 Simple 8176155 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209441 Simple 148953585 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209443 Simple 2070833 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209444 Simple 8176151 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209445 Simple 200368134 TAC . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209447 Simple 7503154 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209448 Simple 182524124 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209449 Simple 8176147 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209450 Simple 66499067 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209451 Simple 8176145 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209452 Simple 8176143 G . Benign 3 1 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 . 3.0 . 0 -209453 Simple 117281398 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209454 Simple 799918 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209455 Simple 200081820 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209456 Simple 145668291 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209457 Simple 181936042 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209458 Simple 35693790 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209459 Simple 143460481 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209460 Simple 799919 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209461 Simple 201060127 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209462 Simple 142085161 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209463 Simple 8176141 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209464 Simple 7219966 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209465 Simple 796093926 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209466 Simple 10445316 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209467 Simple 799924 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209469 Simple 201678971 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209470 Simple 799925 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209471 Simple 10445317 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209472 Simple 10445318 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209473 Simple 200083681 AT . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209474 Simple 148500539 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209475 Simple 111387199 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209476 Simple 142854457 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209477 Simple 183687593 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209478 Simple 10445320 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209479 Simple 10445321 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209480 Simple 34765977 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209481 Simple 139218576 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209482 Simple 149949159 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209483 Simple 67060599 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209484 Simple 35908185 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209485 Simple 184910839 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209486 Simple 8176137 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209487 Simple 147809611 T . Benign 3 1 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 . 3.0 . 0 -209488 Simple 8176134 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209489 Simple 8176133 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209490 Simple 8176132 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209491 Simple 8176130 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209492 Simple 55974475 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209493 Simple 799913 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209494 Simple 8176126 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209495 Simple 12946839 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209496 Simple 148341992 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209497 Simple 8176124 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209498 Simple 799914 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209499 Simple 4792977 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209500 Simple 142808159 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209501 Simple 146059433 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209502 Simple 8176121 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209503 Simple 8176120 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209504 Simple 8065872 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209505 Simple 142024941 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209506 Simple 8176119 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209507 Simple 111572667 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209508 Simple 113127132 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209509 Simple 111615606 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209510 Simple 75129942 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209511 Simple 73321427 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209512 Simple 12936316 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209513 Simple 147766773 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209514 Simple 8176118 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209515 Simple 188719262 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209516 Simple 8176117 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209517 Simple 143757906 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209518 Simple 8176116 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209519 Simple 11657823 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209520 Simple 187294938 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209521 Simple 8176114 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209522 Simple 113210086 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209523 Simple 138040784 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209524 Simple 8176109 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209525 Simple 8176108 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209526 Simple 2671874 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209527 Simple 113808892 CC . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209528 Simple 8176106 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209529 Simple 79415432 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209530 Simple 8176104 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209531 Simple 8176103 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209532 Simple 8176102 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209533 Simple 139405471 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209534 Simple 8176101 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209535 Simple 8176100 A . Benign 3 1 Breast-ovarian cancer, familial 1;not specified 2015-01-12 . 3.0 . 0 -209536 Simple 113046417 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209537 Simple 8176098 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209538 Simple 114323360 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209539 Simple 8074462 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209540 Simple 8176095 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209541 Simple 148120486 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209542 Simple 117381683 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209543 Simple 138795459 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209544 Simple 147420429 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209545 Simple 8176092 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209546 Simple 149469770 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209547 Simple 8176091 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209548 Simple 9895855 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209549 Simple 8176090 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209550 Simple 8176089 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209551 Simple 8176088 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209552 Simple 8176087 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209553 Simple 73321445 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209554 Simple 143912779 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209555 Simple 116806238 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209556 Simple 192816557 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209557 Simple 146467457 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209558 Simple 112674337 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209559 Simple 35668327 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209560 Simple 142831199 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209561 Simple 799902 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209562 Simple 34942571 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209563 Simple 148068102 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209564 Simple 36086436 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209565 Simple 8176086 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209566 Simple 8176085 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209567 Simple 199839105 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209568 Simple 799903 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209569 Simple 149141411 AA . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209570 Simple 8176083 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209571 Simple 8176082 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209572 Simple 113117695 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209573 Simple 8176079 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209574 Simple 8176077 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209575 Simple 141625477 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209576 Simple 111462026 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209577 Simple 8176076 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209578 Simple 55680227 C . Benign 3 1 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2015-01-12 . 3.0 . 0 -209579 Simple 113323025 G . Benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2015-01-12 -12.48 2.6666666666666665 Benign/Likely benign 1 -209580 Simple 112960339 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209581 Simple 3092986 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209582 Simple 799906 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209583 Simple 11655505 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209584 Simple 799907 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209585 Simple 36221744 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209586 Simple 144412026 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209587 Simple 799908 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209588 Simple 799909 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209589 Simple 4793204 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209590 Simple 183796323 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209591 Simple 8077035 T . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209592 Simple 799910 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209593 Simple 34410138 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209594 Simple 35981166 A . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209595 Simple 12947782 G . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209596 Simple 112881775 - . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209597 Simple 7988901 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209598 Simple 3092989 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209599 Simple 55880202 T . Benign 3 4 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified 2015-01-12 -17.28 1.25 Benign/Likely benign 1 -209600 Simple 206118 G . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2015-01-12 -17.28 1.6666666666666667 Benign/Likely benign 1 -209601 Simple 9562605 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209602 Simple 115797182 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209603 Simple 9567552 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209604 Simple 11571575 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209605 Simple 11571576 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209606 Simple 11571577 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209607 Simple 206120 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209608 Simple 11571578 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209609 Simple 11571579 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209610 Simple 145615358 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209611 Simple 11571580 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209612 Simple 11571581 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209613 Simple 142569349 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209614 Simple 11571582 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209615 Simple 11571583 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209616 Simple 11571584 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209617 Simple 11571585 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209618 Simple 11571586 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209619 Simple 117573552 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209620 Simple 74044997 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209621 Simple 74044998 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209622 Simple 11571589 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209623 Simple 11571590 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209624 Simple 11571591 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209625 Simple 141454495 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209626 Simple 11571592 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209627 Simple 191199339 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209628 Simple 7981512 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209629 Simple 11571593 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209630 Simple 11571594 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209631 Simple 185295915 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209632 Simple 11571596 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209633 Simple 11571597 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209634 Simple 11571598 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209635 Simple 206070 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209636 Simple 11571601 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209637 Simple 55953893 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209638 Simple 180863416 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209639 Simple 11571605 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209640 Simple 115317108 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209641 Simple 11571606 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209642 Simple 11571611 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209643 Simple 4942423 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209644 Simple 11571613 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209645 Simple 202006492 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209646 Simple 11571618 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209647 Simple 186248762 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209648 Simple 11571619 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209649 Simple 11571620 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209650 Simple 11571621 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209651 Simple 187438860 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209652 Simple 3752451 A . Benign 3 1 Breast-ovarian cancer, familial 2;not specified 2015-01-12 . 3.0 . 0 -209653 Simple 115974024 C . Benign 3 1 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-01-12 . 3.0 . 0 -209654 Simple 199954794 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209655 Simple 79990454 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209656 Simple 189044716 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209657 Simple 79347017 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209658 Simple 115548886 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209659 Simple 12869544 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209660 Simple 183901354 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209661 Simple 77534868 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209662 Simple 113496137 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209663 Simple 11571625 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209664 Simple 11571626 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209665 Simple 11571628 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209666 Simple 11571631 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209667 Simple 200970975 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209668 Simple 139877528 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209669 Simple 74865284 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209670 Simple 11571638 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209671 Simple 11571639 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209672 Simple 11147486 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209673 Simple 58259010 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209674 Simple 144549870 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209675 Simple 11571643 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209676 Simple 11571644 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209677 Simple 1963505 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209678 Simple 1029304 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209679 Simple 202150453 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209680 Simple 11571647 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209681 Simple 11571648 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209682 Simple 79662804 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209683 Simple 150391946 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209684 Simple 11571649 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209685 Simple 11571650 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209686 Simple 78579727 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209687 Simple 2320236 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209688 Simple 11571651 T . Benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-01-12 -10.68 2.5 Benign/Likely benign 1 -209689 Simple 116486565 C . Benign 3 2 Breast-ovarian cancer, familial 2 2015-01-12 -10.08 3.0 Benign/Likely benign 1 -209691 Simple 11571662 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209692 Simple 145237950 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209693 Simple 11571663 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209694 Simple 74729703 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209695 Simple 206077 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209696 Simple 150018865 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209697 Simple 192828904 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209698 Simple 117883904 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209699 Simple 11571665 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209700 Simple 55921227 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209701 Simple 11571666 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209702 Simple 11571671 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209703 Simple 11571672 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209704 Simple 4942439 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209705 Simple 4942440 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209706 Simple 11147488 T . Benign 3 1 Breast-ovarian cancer, familial 2;not specified 2015-01-12 . 3.0 . 0 -209707 Simple 4942443 T . Benign 3 1 Breast-ovarian cancer, familial 2;not specified 2015-01-12 . 3.0 . 0 -209708 Simple 9567576 G . Benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -16.08 2.3333333333333335 Benign/Likely benign 1 -209709 Simple 11571676 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209710 Simple 115057418 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209711 Simple 199876527 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209712 Simple 74834625 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209713 Simple 57263247 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209714 Simple 206079 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209715 Simple 185087806 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209717 Simple 56085245 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209718 Simple 11571681 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209719 Simple 11571682 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209720 Simple 11571684 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209721 Simple 11571685 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209722 Simple 146634222 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209723 Simple 9567578 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209724 Simple 206081 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209725 Simple 199754711 AA . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209726 Simple 199645879 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209727 Simple 11571686 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209728 Simple 11571690 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209729 Simple 71802971 AA . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209730 Simple 572970006 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209731 Simple 11571691 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209732 Simple 11571693 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209733 Simple 4942448 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209734 Simple 143663101 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209735 Simple 11571695 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209736 Simple 11571696 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209737 Simple 9567582 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209738 Simple 559067 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209739 Simple 192573117 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209740 Simple 1853521 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209741 Simple 142003293 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209742 Simple 202234683 ATTTT . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209743 Simple 11571698 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209744 Simple 11571699 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209745 Simple 55896130 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209746 Simple 721185 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209747 Simple 11571700 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209749 Simple 145261968 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209750 Simple 187377988 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209751 Simple 9943876 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209752 Simple 9943890 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209753 Simple 9943888 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209754 Simple 1460817 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209755 Simple 183906314 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209756 Simple 11571706 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209757 Simple 11571708 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209758 Simple 11571710 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209759 Simple 142832766 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209760 Simple 75002749 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209761 Simple 11842816 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209762 Simple 147710079 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209763 Simple 206097 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209764 Simple 117134513 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209765 Simple 9567600 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209766 Simple 74047013 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209767 Simple 11571712 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209768 Simple 182680171 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209769 Simple 11571715 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209770 Simple 11571717 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209771 Simple 114616563 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209772 Simple 9534259 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209773 Simple 150813429 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209774 Simple 56132513 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209775 Simple 144062001 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209776 Simple 147319311 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209777 Simple 11571719 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209778 Simple 11571721 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209779 Simple 11571722 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209780 Simple 201664419 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209781 Simple 146753854 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209782 Simple 11571723 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209783 Simple 3092990 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209784 Simple 11571725 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209785 Simple 11571726 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209786 Simple 11571727 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209787 Simple 9534269 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209788 Simple 206099 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209789 Simple 113088803 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209790 Simple 11571730 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209791 Simple 11571734 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209793 Simple 114749873 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209794 Simple 11839855 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209795 Simple 116116976 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209796 Simple 117384844 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209797 Simple 114806352 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209798 Simple 61340698 GATGGCTTG . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209799 Simple 149912422 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209800 Simple 139834007 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209801 Simple 76370881 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209802 Simple 117760836 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209803 Simple 118187652 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209804 Simple 199662630 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209805 Simple 143161038 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209806 Simple 75649145 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209807 Simple 9534286 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209808 Simple 68016733 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209809 Simple 11571738 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209810 Simple 11571739 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209811 Simple 11571740 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209812 Simple 9634672 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209813 Simple 11571742 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209814 Simple 11571745 T . Benign 3 2 Breast-ovarian cancer, familial 2;not specified 2015-01-12 -8.280000000000001 1.5 Likely benign 2 -209815 Simple 201392123 CC . Benign 3 2 Breast-ovarian cancer, familial 2;not specified 2015-01-12 -8.280000000000001 1.5 Likely benign 2 -209816 Simple 10492395 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209817 Simple 184287231 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209818 Simple 139210671 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209819 Simple 11571748 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209820 Simple 9567609 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209821 Simple 573014 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209822 Simple 11571751 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209823 Simple 11571752 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209824 Simple 112870240 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209825 Simple 61946969 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209826 Simple 140438658 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209827 Simple 150493955 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209828 Simple 138326030 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209829 Simple 182505124 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209830 Simple 11571753 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209831 Simple 150600452 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209832 Simple 140570300 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209833 Simple 11571756 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209835 Simple 55817734 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209836 Simple 3764791 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209837 Simple 3764792 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209838 Simple 11571760 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209839 Simple 9567623 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209840 Simple 9526148 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209841 Simple 11571764 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209842 Simple 117168405 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209843 Simple 11571765 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209844 Simple 11571766 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209845 Simple 4942485 G . Benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2015-01-12 -21.48 2.25 Benign/Likely benign 1 -209846 Simple 11571767 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209847 Simple 74047016 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209848 Simple 11147491 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209849 Simple 75562304 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209850 Simple 141669194 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209851 Simple 11571773 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209852 Simple 144001573 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209853 Simple 10870659 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209854 Simple 11571775 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209855 Simple 11571776 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209856 Simple 9534344 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209857 Simple 11571780 GG . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209858 Simple 206146 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209859 Simple 150042254 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209860 Simple 7337574 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209861 Simple 7337784 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209862 Simple 11571786 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209863 Simple 11571787 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209864 Simple 9567639 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209865 Simple 188463500 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209866 Simple 10492396 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209867 Simple 75257853 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209868 Simple 11571788 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209869 Simple 11571789 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209870 Simple 542551 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209871 Simple 34925070 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209872 Simple 206147 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209873 Simple 11571790 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209874 Simple 74537929 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209875 Simple 186228399 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209876 Simple 149294612 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209877 Simple 797044979 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209878 Simple 11571791 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209879 Simple 11571792 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209880 Simple 187910413 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209881 Simple 11571796 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209882 Simple 11571799 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209883 Simple 11571800 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209884 Simple 11571801 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209885 Simple 9526160 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209886 Simple 11571804 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209887 Simple 11571805 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209888 Simple 141070283 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209889 Simple 11571806 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209890 Simple 147800399 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209891 Simple 9534367 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209892 Simple 116522678 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209893 Simple 206340 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209894 Simple 11571809 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209895 Simple 11571810 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209896 Simple 74047019 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209897 Simple 11571811 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209898 Simple 141258585 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209899 Simple 11571812 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209900 Simple 11571813 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209901 Simple 7318434 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209902 Simple 11571814 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209903 Simple 206342 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209904 Simple 78065656 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209905 Simple 116833677 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209906 Simple 7324145 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209907 Simple 11147493 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209908 Simple 11571815 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209909 Simple 80220521 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209910 Simple 191553604 G . Benign 3 1 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-01-12 . 3.0 . 0 -209911 Simple 206343 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209912 Simple 1012130 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209913 Simple 150075007 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209914 Simple 112007429 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209915 Simple 11571821 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209916 Simple 7336403 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209917 Simple 517118 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209918 Simple 11147494 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209920 Simple 61066503 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209921 Simple 797044980 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209922 Simple 11571827 G . Benign 3 1 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2015-01-12 . 3.0 . 0 -209923 Simple 11571834 G . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2015-01-12 -11.280000000000001 1.6666666666666667 Benign/Likely benign 1 -209924 Simple 7334543 G . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2015-01-12 -17.28 1.6666666666666667 Benign/Likely benign 1 -209925 Simple 200528973 - . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209926 Simple 56003538 G . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2015-01-12 -11.280000000000001 1.6666666666666667 Benign/Likely benign 1 -209927 Simple 11571835 A . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2015-01-12 -11.280000000000001 1.6666666666666667 Benign/Likely benign 1 -209928 Simple 11571836 G . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2015-01-12 -17.28 1.6666666666666667 Benign/Likely benign 1 -209929 Simple 6416927 C . Benign 3 1 Breast-ovarian cancer, familial 1 2015-01-12 . 3.0 . 0 -209930 Simple 206119 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209931 Simple 206121 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209932 Simple 206122 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209933 Simple 9534174 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209934 Simple 206123 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209935 Simple 206071 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209936 Simple 206073 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209937 Simple 206074 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209938 Simple 206078 A . Benign 3 1 Breast-ovarian cancer, familial 2;not specified 2015-01-12 . 3.0 . 0 -209939 Simple 206080 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209940 Simple 206069 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209941 Simple 1460816 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209942 Simple 206098 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209943 Simple 9534270 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209944 Simple 9534275 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209945 Simple 206067 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209946 Simple 206068 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209947 Simple 9534318 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209948 Simple 9534323 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209949 Simple 7328654 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209950 Simple 206145 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209951 Simple 9534342 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209952 Simple 2238162 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209953 Simple 2238163 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209954 Simple 11147492 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209955 Simple 2100785 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209956 Simple 4570704 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209957 Simple 4942499 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209958 Simple 4942505 T . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209959 Simple 206341 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209960 Simple 9526165 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209961 Simple 7327867 A . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209962 Simple 7330025 G . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209963 Simple 1012129 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -209964 Simple 206344 C . Benign 3 1 Breast-ovarian cancer, familial 2 2015-01-12 . 3.0 . 0 -210009 Simple 750949508 C . Uncertain significance 2 2 not specified;Aortic aneurysm, familial thoracic 8 2017-09-08 -0.51 2.0 Uncertain significance 0 -210041 Simple 754320812 C . Pathogenic/Likely pathogenic 2 2 Brown-Vialetto-Van Laere syndrome 2;not provided 2016-05-19 9.0 1.0 Pathogenic/Likely pathogenic 0 -210043 Simple 368924997 A . Pathogenic/Likely pathogenic 2 2 Brown-Vialetto-Van Laere syndrome 2;not provided 2016-08-16 8.4 1.5 Pathogenic/Likely pathogenic 0 -210074 Simple 761749884 T . Pathogenic/Likely pathogenic 2 2 Persistent hyperinsulinemic hypoglycemia of infancy 2016-06-07 8.4 1.5 Pathogenic/Likely pathogenic 0 -210082 Simple 797045213 C . Pathogenic/Likely pathogenic 2 3 Persistent hyperinsulinemic hypoglycemia of infancy;not provided 2017-06-16 14.4 1.0 Pathogenic/Likely pathogenic 0 -210094 Simple 11549173 T . Benign/Likely benign 2 3 Deafness, autosomal dominant 20;not specified;Baraitser-Winter Syndrome 2 2017-07-03 -14.7 1.0 Benign/Likely benign 0 -210105 Simple 142993240 A . Likely benign 2 2 not specified;Monogenic diabetes 2016-06-03 -5.7 1.5 Likely benign 0 -210106 Simple 143324306 A . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-05-01 -12.0 0.5 Benign/Likely benign 0 -210115 Simple 3730258 A . Benign/Likely benign 2 2 Diabetes mellitus type 2;Hypoglycemia, neonatal, simulating foetopathia diabetica;not specified 2017-05-26 -8.7 1.0 Benign/Likely benign 0 -210119 Simple 146939069 C . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -210124 Simple 797045227 - . Benign/Likely benign 2 3 Alstrom syndrome;not specified 2017-08-11 -11.4 1.0 Benign/Likely benign 0 -210125 Simple 767987501 C . Uncertain significance 2 2 not specified 2016-11-28 -0.5700000000000001 1.5 Uncertain significance 0 -210126 Simple 199573929 G . Uncertain significance 2 4 Alstrom syndrome;not specified 2017-07-09 -1.17 0.75 Uncertain significance 0 -210132 Simple 373211307 T . Uncertain significance 2 3 not specified 2017-02-23 -0.87 1.3333333333333333 Uncertain significance 0 -210135 Simple 181341030 G . Uncertain significance 2 2 Mitochondrial complex I deficiency;not specified 2016-03-18 -0.54 2.0 Uncertain significance 0 -210160 Simple 139982397 C . Uncertain significance 2 2 not specified 2016-07-11 -0.54 2.0 Uncertain significance 0 -210161 Simple 41274676 A . Uncertain significance 2 2 not specified 2016-06-01 -0.54 2.0 Uncertain significance 0 -210169 Simple 140463162 T . Likely benign 2 2 not specified;not provided 2017-09-11 -6.0 0.5 Likely benign 0 -210171 Simple 140741466 A . Uncertain significance 2 2 not specified 2017-07-13 -0.54 1.5 Uncertain significance 0 -210198 Simple 145851652 C . Benign/Likely benign 2 3 not specified;Spastic paraplegia 2017-07-18 -11.7 0.6666666666666666 Benign/Likely benign 0 -210209 Simple 41280965 T . Benign 2 3 Spastic paraplegia 50, autosomal recessive;not specified 2017-08-10 -17.4 1.0 Benign/Likely benign 1 -210212 Simple 138437966 C . Uncertain significance 2 3 Spastic paraplegia 50, autosomal recessive;not specified 2017-04-18 -0.84 1.3333333333333333 Uncertain significance 0 -210219 Simple 74807133 A . Benign/Likely benign 2 3 not specified;not provided;Spastic paraplegia 2017-07-25 -14.4 1.0 Benign/Likely benign 0 -210220 Simple 797045252 TT . Likely benign 2 2 not specified 2016-03-03 -5.1 2.5 Likely benign 0 -210221 Simple 372517211 T . Uncertain significance 2 2 Spastic paraplegia 48, autosomal recessive;not specified 2017-08-03 -0.54 1.5 Uncertain significance 0 -210223 Simple 797045254 - . Benign/Likely benign 2 3 Androgen resistance syndrome;Bulbo-spinal atrophy X-linked;not specified;not provided 2017-06-29 -15.0 0.3333333333333333 Benign/Likely benign 0 -210225 Simple 116550473 A . Benign/Likely benign 2 2 not specified 2016-08-02 -8.4 1.5 Benign/Likely benign 0 -210226 Simple 149471454 T . Uncertain significance 2 2 not specified 2016-05-17 -0.5700000000000001 1.5 Uncertain significance 0 -210228 Simple 146772848 A . Uncertain significance 2 2 not specified;Periventricular Heterotopia 2016-06-14 -0.54 2.0 Uncertain significance 0 -210231 Simple 770578384 G . Uncertain significance 2 2 not specified;Periventricular Heterotopia 2016-06-14 -0.54 2.0 Uncertain significance 0 -210234 Simple 61748373 T . Uncertain significance 2 2 not specified;Periventricular Heterotopia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -210239 Simple 139037316 A . Uncertain significance 2 2 not specified 2016-10-06 -0.54 2.0 Uncertain significance 0 -210241 Simple 201206379 A . Uncertain significance 2 2 not specified;Periventricular Heterotopia 2016-06-14 -0.54 2.0 Uncertain significance 0 -210248 Simple 199691980 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-06-30 -8.7 1.0 Benign/Likely benign 0 -210249 Simple 532348958 C . Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -210253 Simple 75329154 T . Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -210254 Simple 34274521 A . Uncertain significance 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -210272 Simple 776745618 G . Uncertain significance 2 2 not specified;not provided 2017-05-08 -0.54 1.5 Uncertain significance 0 -210275 Simple 753933273 T . Pathogenic 2 2 Mental retardation, autosomal dominant 12;not provided 2017-08-14 10.8 1.5 Pathogenic/Likely pathogenic 1 -210277 Simple 797045272 T . Pathogenic 2 2 Mental retardation, autosomal dominant 12;not provided 2017-10-02 11.4 1.0 Pathogenic/Likely pathogenic 1 -210280 Simple 148976215 T . Benign/Likely benign 2 2 not specified;not provided 2016-05-11 -9.0 1.0 Benign/Likely benign 0 -210306 Simple 797045283 T . Pathogenic 2 2 Mental retardation, autosomal dominant 12;not provided 2017-10-05 10.8 1.5 Pathogenic/Likely pathogenic 1 -210310 Simple 375160616 A . Benign 2 2 not specified;not provided 2017-02-06 -11.4 1.5 Benign/Likely benign 1 -210313 Simple 797045286 CGGCGG . Likely benign 2 2 not specified;not provided 2017-03-10 -5.4 1.5 Likely benign 0 -210314 Simple 797045287 GAGGAG . Likely benign 2 2 not specified;not provided 2017-02-27 -5.4 2.0 Likely benign 0 -210324 Simple 797045294 T . Uncertain significance 2 2 not specified 2015-10-14 -0.51 2.5 Uncertain significance 0 -210339 Simple 797045307 - . Pathogenic 2 2 not provided;Asparagine synthetase deficiency 2016-12-13 11.4 1.5 Pathogenic/Likely pathogenic 1 -210341 Simple 1537318 A . Benign/Likely benign 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -210347 Simple 143294539 C . Benign/Likely benign 2 2 not specified 2016-10-20 -9.0 1.0 Benign/Likely benign 0 -210354 Simple 199874115 T . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -210356 Simple 143092798 T . Uncertain significance 2 2 not specified 2017-06-21 -0.54 1.5 Uncertain significance 0 -210357 Simple 115594989 C . Uncertain significance 2 2 not specified 2016-05-18 -0.54 2.0 Uncertain significance 0 -210361 Simple 775263946 T . Uncertain significance 2 2 not specified 2016-09-09 -0.54 2.0 Uncertain significance 0 -210364 Simple 797045317 - . Pathogenic 2 2 not provided;Bainbridge-Ropers syndrome 2017-03-20 10.8 1.5 Pathogenic/Likely pathogenic 1 -210379 Simple 200587951 T . Uncertain significance 2 2 Parkinson disease 9;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -210381 Simple 144557304 T . Uncertain significance 2 3 Parkinson disease 9;not specified 2016-07-25 -0.87 1.3333333333333333 Uncertain significance 0 -210425 Simple 72554645 T . Pathogenic 2 2 Menkes kinky-hair syndrome;not provided 2017-11-20 9.6 2.5 Pathogenic/Likely pathogenic 1 -210428 Simple 201788154 G . Likely benign 2 2 not specified 2017-01-20 -4.8 3.0 Likely benign 0 -210466 Simple 139781067 G . Benign/Likely benign 2 3 Menkes kinky-hair syndrome;Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;not specified 2017-07-10 -12.6 1.6666666666666667 Benign/Likely benign 0 -210475 Simple 200009243 C . Benign/Likely benign 2 2 not specified 2015-11-12 -9.0 3.5 Benign/Likely benign 0 -210477 Simple 2228447 G . Benign 2 3 Menkes kinky-hair syndrome;Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;not specified 2017-07-18 -15.0 2.3333333333333335 Benign/Likely benign 1 -210484 Simple 187343742 G . Likely benign 2 1 not specified 2017-06-15 . 0.0 . 0 -210489 Simple 112726878 A . Uncertain significance 2 2 Seckel syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -210498 Simple 782072699 - . Benign/Likely benign 2 3 ATR-X syndrome;not specified 2017-08-03 -11.7 1.0 Benign/Likely benign 0 -210501 Simple 148015780 A . Benign/Likely benign 2 3 ATR-X syndrome;not specified 2017-08-01 -11.7 1.0 Benign/Likely benign 0 -210513 Simple 143983025 G . Uncertain significance 2 2 not specified 2017-05-25 -0.54 1.5 Uncertain significance 0 -210514 Simple 116483694 T . Likely benign 2 2 not specified 2016-02-17 -5.4 2.0 Likely benign 0 -210526 Simple 797045412 A . Likely pathogenic 2 2 Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant;Spinal muscular atrophy, lower extremity-predominant, 2, AD 2016-11-10 5.4 2.0 Likely pathogenic 0 -210533 Simple 60657820 G . Likely benign 2 3 Fanconi anemia;not specified;Neoplasm of the breast 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -210534 Simple 768910110 TTTCTT . Uncertain significance 2 3 Fanconi anemia;not specified;Neoplasm of the breast 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -210535 Simple 2048717 G . Benign/Likely benign 2 3 Fanconi anemia, complementation group J;Neoplasm of ovary;not specified 2016-06-03 -14.7 1.3333333333333333 Benign/Likely benign 0 -210543 Simple 142085721 G . Benign/Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-10-12 -9.0 1.0 Benign/Likely benign 0 -210546 Simple 797045420 - . Uncertain significance 2 2 Temtamy syndrome;not specified 2017-07-28 -0.5700000000000001 1.0 Uncertain significance 0 -210548 Simple 139068225 G . Uncertain significance 2 2 Temtamy syndrome;not specified 2017-06-14 -0.5700000000000001 1.0 Uncertain significance 0 -210561 Simple 368385372 T . Uncertain significance 2 4 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-07-15 -1.17 1.25 Uncertain significance 0 -210563 Simple 797045427 CCCC . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2016-01-22 15.600000000000001 2.3333333333333335 Pathogenic 0 -210566 Simple 555296963 A . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -210577 Simple 142872154 G . Conflicting interpretations of pathogenicity 1 2 Primary autosomal recessive microcephaly 4;not specified 2018-02-19 -0.51 2.5 Uncertain significance 0 -210582 Simple 546044640 C . Benign 2 2 not specified 2017-03-07 -11.4 1.0 Benign/Likely benign 1 -210608 Simple 16892134 A . Likely benign 2 2 not specified 2016-09-21 -6.0 1.0 Likely benign 0 -210610 Simple 370492044 C . Uncertain significance 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -1.14 1.5 Uncertain significance 0 -210617 Simple 191605685 T . Benign/Likely benign 2 2 not specified 2016-09-07 -8.7 1.5 Benign/Likely benign 0 -210621 Simple 4135010 G . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.54 1.5 Uncertain significance 0 -210634 Simple 137966123 C . Uncertain significance 2 3 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -210638 Simple 143946953 A . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -210652 Simple 762459325 GCGGGTGCGGGT . Benign/Likely benign 2 2 Acute myeloid leukemia;not specified 2017-08-11 -8.7 1.0 Benign/Likely benign 0 -210653 Simple 143258862 C . Uncertain significance 2 4 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -1.1099999999999999 1.75 Uncertain significance 0 -210662 Simple 148738982 A . Uncertain significance 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -210675 Simple 59759676 G . Uncertain significance 2 2 not specified 2016-01-28 -0.51 2.5 Uncertain significance 0 -210693 Simple 374656545 A . Uncertain significance 2 2 not specified 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -210707 Simple 115510708 G . Benign/Likely benign 2 3 Familial infantile myasthenia;not specified 2017-08-02 -11.4 1.3333333333333333 Benign/Likely benign 0 -210715 Simple 797045464 - . Benign/Likely benign 2 2 not specified 2017-05-19 -7.8 2.5 Likely benign 1 -210725 Simple 554647169 A . Benign/Likely benign 2 4 CHARGE association;Hypogonadism with anosmia;not specified 2016-09-05 -14.7 1.25 Benign/Likely benign 0 -210729 Simple 188395796 T . Benign 2 2 Lethal multiple pterygium syndrome;not specified 2017-07-14 -11.4 1.0 Benign/Likely benign 1 -210737 Simple 7297132 T . Benign/Likely benign 2 3 Myopathy, congenital, compton-north;not specified 2017-07-31 -11.7 1.0 Benign/Likely benign 0 -210751 Simple 145560772 A . Uncertain significance 2 2 not specified 2015-10-07 -0.54 2.0 Uncertain significance 0 -210753 Simple 114199044 T . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified 2017-03-02 -14.7 1.3333333333333333 Benign/Likely benign 0 -210787 Simple 779647460 TGCTGC . Likely benign 2 2 not specified 2015-01-05 -4.2 4.0 Likely benign 0 -210794 Simple 201891953 T . Uncertain significance 2 2 Dyskeratosis congenita;not specified 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -210795 Simple 78870822 G . Benign/Likely benign 2 4 Dyskeratosis congenita;not specified;not provided;Dyskeratosis Congenita, Recessive 2017-07-31 -17.4 0.75 Benign/Likely benign 0 -210800 Simple 145727304 T . Benign/Likely benign 2 2 not specified;not provided 2016-11-07 -8.4 1.5 Benign/Likely benign 0 -210803 Simple 140627086 A . Likely benign 2 2 not specified 2016-04-12 -5.7 1.5 Likely benign 0 -210810 Simple 139321130 A . Likely benign 2 3 not specified;not provided;D-2-hydroxyglutaric aciduria 2017-03-09 -8.7 1.0 Benign/Likely benign 1 -210813 Simple 369135156 A . Uncertain significance 2 3 not specified;not provided;D-2-hydroxyglutaric aciduria 2016-12-31 -0.84 1.6666666666666667 Uncertain significance 0 -210814 Simple 375565047 A . Uncertain significance 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -0.54 2.0 Uncertain significance 0 -210836 Simple 149495971 A . Likely benign 2 2 not specified 2015-08-07 -5.4 2.0 Likely benign 0 -210838 Simple 148664622 G . Likely benign 2 2 not specified;Spastic paraplegia 54, autosomal recessive 2017-07-04 -6.0 0.5 Likely benign 0 -210843 Simple 762890562 CATCCATC . Pathogenic, risk factor 2 2 Acute myeloid leukemia;Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to 2016-05-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -210846 Simple 79027628 T . Uncertain significance 2 2 Epilepsy, familial focal, with variable foci 1;not specified 2016-09-05 -0.54 2.0 Uncertain significance 0 -210847 Simple 797045523 GAAGAA . Benign 2 2 Dyskeratosis congenita;not specified 2017-08-08 -11.4 1.0 Benign/Likely benign 1 -210855 Simple 797045527 ACCTCTGACCTCTG . Likely benign 2 2 not specified 2017-04-15 -4.8 2.5 Likely benign 0 -210862 Simple 369351359 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2016-09-05 -0.5700000000000001 1.5 Uncertain significance 0 -210863 Simple 17541519 T . Benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-12 -17.4 1.0 Benign/Likely benign 1 -210869 Simple 192594531 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-18 -15.0 0.6666666666666666 Benign/Likely benign 0 -210873 Simple 140841480 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-07-10 -15.0 0.0 Benign/Likely benign 0 -210876 Simple 138407720 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-08-17 -15.0 0.3333333333333333 Benign/Likely benign 0 -210893 Simple 55720916 C . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 7;not specified;not provided 2017-06-15 -13.8 1.3333333333333333 Benign/Likely benign 0 -210897 Simple 187936450 G . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 7;not specified 2017-08-01 -11.4 1.3333333333333333 Benign/Likely benign 0 -210908 Simple 1190429 T . Likely benign 2 1 not specified 2015-07-20 . 2.0 . 0 -210910 Simple 370167241 A . Pathogenic 2 2 not provided;Arthrogryposis, distal, type 5d 2017-02-10 10.8 2.0 Pathogenic/Likely pathogenic 1 -210911 Simple 77682973 A . Uncertain significance 2 2 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2016-11-01 -0.54 2.0 Uncertain significance 0 -210918 Simple 199839806 T . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome;not specified 2016-07-01 -9.0 1.0 Benign/Likely benign 0 -210937 Simple 181755354 C . Benign/Likely benign 2 3 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2;not specified 2017-06-19 -13.8 1.3333333333333333 Benign/Likely benign 0 -210938 Simple 186198699 G . Likely benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -5.4 2.0 Likely benign 0 -210952 Simple 56012340 A . Benign/Likely benign 2 2 Xeroderma pigmentosum;not specified 2016-06-14 -8.7 1.5 Benign/Likely benign 0 -210953 Simple 61422086 - . Benign/Likely benign 2 2 Xeroderma pigmentosum;not specified 2016-06-14 -8.7 1.5 Benign/Likely benign 0 -210959 Simple 377704533 G . Uncertain significance 2 2 not specified;Spastic paraplegia 2017-06-06 -0.54 1.5 Uncertain significance 0 -210966 Simple 3214332 - . Benign 2 3 Weaver syndrome;not specified 2016-06-14 -15.6 2.3333333333333335 Benign/Likely benign 1 -210972 Simple 183513839 A . Likely benign 2 1 not specified 2015-07-27 . 2.0 . 0 -210975 Simple 149227790 T . Uncertain significance 2 2 Fanconi anemia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -210976 Simple 4647542 A . Benign/Likely benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -15.0 0.3333333333333333 Benign/Likely benign 0 -210982 Simple 45451605 - . Benign/Likely benign 2 2 Fanconi anemia, complementation group E;not specified 2017-06-03 -8.7 1.0 Benign/Likely benign 0 -210983 Simple 45553340 G . Uncertain significance 2 2 Fanconi anemia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -210985 Simple 117125761 T . Benign/Likely benign 2 3 Fanconi anemia;not specified;not provided 2017-07-20 -14.7 1.0 Benign/Likely benign 0 -210986 Simple 145762491 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-25 -8.7 1.0 Benign/Likely benign 0 -210989 Simple 116519044 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-05-25 -8.7 1.0 Benign/Likely benign 0 -210990 Simple 7142192 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-05-25 -8.7 1.0 Benign/Likely benign 0 -210991 Simple 79343837 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-05-25 -8.7 1.0 Benign/Likely benign 0 -210992 Simple 28362318 A . Benign/Likely benign 2 3 Autoimmune lymphoproliferative syndrome;not specified 2017-06-27 -11.7 1.0 Benign/Likely benign 0 -210993 Simple 112428886 T . Benign/Likely benign 2 7 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified;not provided 2017-09-22 -29.7 0.5714285714285714 Benign 1 -211000 Simple 148014419 T . Uncertain significance 2 3 Congenital contractural arachnodactyly;not specified 2017-07-19 -0.81 1.6666666666666667 Uncertain significance 0 -211004 Simple 55662109 A . Benign/Likely benign 2 4 not specified 2017-03-16 -21.0 0.75 Benign/Likely benign 0 -211005 Simple 552260353 A . Uncertain significance 2 2 not specified 2015-09-16 -0.54 2.0 Uncertain significance 0 -211010 Simple 782549299 A . Uncertain significance 2 2 not specified 2015-10-29 -0.54 2.0 Uncertain significance 0 -211017 Simple 797045579 A . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-04-24 -0.5700000000000001 1.0 Uncertain significance 0 -211019 Simple 782315233 A . Likely benign 2 2 not specified 2015-10-14 -5.4 2.0 Likely benign 0 -211021 Simple 72616474 C . Benign/Likely benign 2 5 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided 2017-07-21 -25.8 1.0 Benign 1 -211023 Simple 782202978 T . Likely benign 2 2 not specified 2016-08-16 -5.7 1.5 Likely benign 0 -211027 Simple 143889976 T . Benign/Likely benign 2 2 not specified 2016-04-05 -8.7 1.5 Benign/Likely benign 0 -211032 Simple 797045583 A . Uncertain significance 2 2 not specified 2017-01-17 -0.5700000000000001 1.5 Uncertain significance 0 -211037 Simple 144080925 C . Benign/Likely benign 2 2 not specified;Intellectual Disability with Language Impairment and Autistic Features 2016-08-12 -9.0 1.0 Benign/Likely benign 0 -211038 Simple 797045584 A . Pathogenic 2 2 Mental retardation with language impairment and with or without autistic features;not provided 2017-01-09 10.8 2.0 Pathogenic/Likely pathogenic 1 -211040 Simple 797045586 T . Pathogenic 2 2 Mental retardation with language impairment and with or without autistic features;not provided 2017-04-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -211041 Simple 140161845 C . Benign/Likely benign 2 3 not specified;Intellectual Disability with Language Impairment and Autistic Features 2016-09-05 -12.0 1.0 Benign/Likely benign 0 -211059 Simple 199967869 T . Uncertain significance 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -211066 Simple 145131801 A . Benign/Likely benign 2 2 not specified;not provided 2017-01-26 -7.8 2.0 Likely benign 1 -211072 Simple 61736250 A . Benign/Likely benign 2 6 Permanent neonatal diabetes mellitus;not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Transient Neonatal Diabetes, Recessive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 0 -211078 Simple 11164605 A . Benign 2 3 not specified;Severe congenital neutropenia 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -211088 Simple 797045599 T . Pathogenic/Likely pathogenic 2 2 not provided;Early infantile epileptic encephalopathy 17 2016-06-02 8.7 1.5 Pathogenic/Likely pathogenic 0 -211090 Simple 34613633 T . Uncertain significance 2 2 Rhizomelic chondrodysplasia punctata;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -211092 Simple 141554661 A . Pathogenic 2 2 Epilepsy, progressive myoclonic 6;not provided 2017-10-23 11.4 1.0 Pathogenic/Likely pathogenic 1 -211096 Simple 797045602 TTTT . Pathogenic 2 2 Polymicrogyria, bilateral frontoparietal;not provided 2016-01-20 9.0 3.5 Pathogenic/Likely pathogenic 1 -211099 Simple 371906040 G . Uncertain significance 2 2 not specified 2016-07-28 -0.5700000000000001 1.5 Uncertain significance 0 -211100 Simple 189033496 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -211152 Simple 138189133 A . Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -211155 Simple 36078476 G . Benign/Likely benign 2 2 not specified 2016-02-03 -7.800000000000001 2.5 Likely benign 1 -211183 Simple 558778286 A . Uncertain significance 2 2 Joubert syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -211186 Simple 797045623 T . Pathogenic 2 2 Permanent neonatal diabetes mellitus;not provided 2016-06-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -211188 Simple 72549237 T . Uncertain significance 2 2 not specified 2015-12-22 -0.51 2.5 Uncertain significance 0 -211197 Simple 780601620 GAGA . Benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -211198 Simple 150568177 A . Likely benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-09-22 -12.0 1.0 Benign/Likely benign 1 -211214 Simple 71929101 - . Benign/Likely benign 2 3 Genitopatellar syndrome;not specified;KAT6B-Related Spectrum Disorders 2017-05-10 -14.7 1.0 Benign/Likely benign 0 -211221 Simple 112070496 T . Benign/Likely benign 2 7 Permanent neonatal diabetes mellitus;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-08-30 -24.0 1.0 Benign 1 -211236 Simple 118192212 - . Pathogenic 2 3 Benign Rolandic epilepsy;Early infantile epileptic encephalopathy 7;Seizures;not provided 2016-10-28 17.4 1.3333333333333333 Pathogenic 0 -211239 Simple 149960236 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-25 -15.0 0.6666666666666666 Benign/Likely benign 0 -211241 Simple 151080601 A . Benign/Likely benign 2 5 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-06-26 -26.1 1.0 Benign 1 -211242 Simple 371874401 T . Benign/Likely benign 2 4 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-01-12 -17.1 1.5 Benign/Likely benign 0 -211243 Simple 370085077 T . Likely benign 2 4 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-07-03 -11.7 0.5 Benign/Likely benign 1 -211247 Simple 148661902 T . Uncertain significance 2 2 not specified 2017-07-20 -0.54 1.5 Uncertain significance 0 -211248 Simple 143955805 C . Benign 2 3 not specified;Spastic paraplegia 2017-03-07 -16.8 1.3333333333333333 Benign/Likely benign 1 -211257 Simple 797045644 G . Likely pathogenic 2 2 Kabuki syndrome 2;not provided 2015-10-06 5.4 2.0 Likely pathogenic 0 -211266 Simple 149185175 A . Benign 2 2 not specified;Mental retardation, X-linked 98 2017-07-26 -11.4 1.0 Benign/Likely benign 1 -211269 Simple 143577015 A . Benign/Likely benign 2 3 not specified;not provided;Mental retardation, X-linked 98 2017-04-21 -14.7 1.0 Benign/Likely benign 0 -211270 Simple 41303725 G . Benign/Likely benign 2 2 not specified;Mental retardation, X-linked 98 2017-07-27 -8.7 1.0 Benign/Likely benign 0 -211276 Simple 760338913 A . Uncertain significance 2 2 not specified 2017-03-03 -0.5700000000000001 1.5 Uncertain significance 0 -211290 Simple 201825284 A . Uncertain significance 2 2 not specified 2015-09-03 -0.54 2.0 Uncertain significance 0 -211291 Simple 201418175 T . Benign/Likely benign 2 2 not specified 2016-12-05 -8.7 1.5 Benign/Likely benign 0 -211292 Simple 200141437 T . Uncertain significance 2 4 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;not provided 2017-08-01 -1.17 0.5 Uncertain significance 0 -211294 Simple 143815273 T . Uncertain significance 2 4 Hereditary sensory and autonomic neuropathy type II;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2016-06-14 -1.14 1.5 Uncertain significance 0 -211298 Simple 797045655 A . Pathogenic/Likely pathogenic 2 2 Mental retardation, autosomal dominant 9;not provided 2016-04-26 8.7 1.5 Pathogenic/Likely pathogenic 0 -211300 Simple 111507743 A . Uncertain significance 2 5 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-08-04 -1.47 1.0 Uncertain significance 0 -211301 Simple 750812056 G . Uncertain significance 2 2 not specified 2017-02-13 -0.54 2.0 Uncertain significance 0 -211311 Simple 146429909 G . Benign 2 2 not specified 2017-02-20 -11.4 1.5 Benign/Likely benign 1 -211313 Simple 9332772 A . Benign 2 2 not specified;not provided 2017-05-03 -12.0 0.5 Benign/Likely benign 1 -211319 Simple 797045659 A . Pathogenic 2 2 Kabuki syndrome 1;not provided 2017-02-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -211338 Simple 146782397 T . Benign/Likely benign 2 3 not specified;Spastic paraplegia 2016-03-01 -13.5 2.0 Benign/Likely benign 0 -211339 Simple 797045673 A . Pathogenic 2 2 not provided;Hydrocephalus due to aqueductal stenosis 2017-03-27 11.4 1.0 Pathogenic/Likely pathogenic 1 -211349 Simple 113626637 A . Benign/Likely benign 2 2 not specified 2016-10-14 -8.4 1.5 Benign/Likely benign 0 -211359 Simple 35082294 A . Likely benign 2 2 not specified 2016-03-25 -5.7 1.5 Likely benign 0 -211364 Simple 35654564 A . Benign/Likely benign 2 2 not specified 2016-07-28 -8.7 1.5 Benign/Likely benign 0 -211366 Simple 144662546 T . Uncertain significance 2 2 not specified 2017-09-14 -0.5700000000000001 1.0 Uncertain significance 0 -211367 Simple 141497885 T . Uncertain significance 2 2 not specified 2016-04-05 -0.54 2.0 Uncertain significance 0 -211368 Simple 145775274 T . Likely benign 2 2 not specified 2016-07-25 -5.7 1.5 Likely benign 0 -211373 Simple 61731910 T . Benign 2 3 Lig4 syndrome;not specified 2017-06-29 -16.8 1.3333333333333333 Benign/Likely benign 1 -211382 Simple 141855950 C . Benign/Likely benign 2 3 not specified;not provided 2017-01-19 -11.4 1.3333333333333333 Benign/Likely benign 0 -211387 Simple 374726751 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-01-09 -0.54 2.0 Uncertain significance 0 -211389 Simple 375166826 T . Uncertain significance 2 2 Donnai Barrow syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -211390 Simple 35942532 C . Uncertain significance 2 3 Donnai Barrow syndrome;not specified 2017-02-17 -0.84 1.6666666666666667 Uncertain significance 0 -211395 Simple 147058423 T . Uncertain significance 2 3 Donnai Barrow syndrome;not specified 2017-09-28 -0.84 1.3333333333333333 Uncertain significance 0 -211398 Simple 146289506 A . Uncertain significance 2 2 Donnai Barrow syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -211403 Simple 149148763 T . Uncertain significance 2 2 Donnai Barrow syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -211404 Simple 141751667 T . Uncertain significance 2 2 Donnai Barrow syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -211405 Simple 61746928 T . Benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;not specified;Myasthenic syndrome, congenital, 17 2017-07-10 -12.0 0.5 Benign/Likely benign 1 -211408 Simple 777389303 A . Uncertain significance 2 2 Chédiak-Higashi syndrome;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -211410 Simple 146591126 A . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-05-26 -8.4 1.5 Benign/Likely benign 0 -211411 Simple 138443479 G . Uncertain significance 2 2 Chédiak-Higashi syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -211422 Simple 146417316 T . Uncertain significance 2 2 not specified 2016-04-19 -0.5700000000000001 1.5 Uncertain significance 0 -211424 Simple 143449562 A . Uncertain significance 2 2 not specified 2017-02-26 -0.54 2.0 Uncertain significance 0 -211427 Simple 575361734 G . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -211437 Simple 143333632 C . Likely benign 2 2 Mental retardation, autosomal dominant 1;not specified 2017-04-11 -6.0 0.5 Likely benign 0 -211448 Simple 41313952 C . Uncertain significance 2 2 not specified 2017-05-12 -0.54 1.5 Uncertain significance 0 -211456 Simple 375101073 A . Uncertain significance 2 2 Severe neonatal-onset encephalopathy with microcephaly;not specified 2017-06-30 -0.54 1.5 Uncertain significance 0 -211475 Simple 376058351 C . Benign/Likely benign 2 4 FG syndrome;not specified;Cardiovascular phenotype 2017-06-13 -14.100000000000001 1.25 Benign/Likely benign 0 -211493 Simple 753002290 C . Uncertain significance 2 2 not specified 2015-08-04 -0.54 2.0 Uncertain significance 0 -211494 Simple 545185248 G . Pathogenic 2 2 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;not provided 2016-01-05 10.2 2.5 Pathogenic/Likely pathogenic 1 -211500 Simple 769878968 - . Benign/Likely benign 2 2 not specified 2015-10-30 -8.100000000000001 2.0 Likely benign 1 -211506 Simple 34911705 G . Benign/Likely benign 2 2 not specified;not provided 2017-03-20 -7.2 2.0 Likely benign 1 -211522 Simple 6086 A . Likely benign 2 3 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;not specified 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -211532 Simple 797045717 - . Pathogenic 2 2 Severe X-linked myotubular myopathy;not provided 2015-12-17 9.0 3.5 Pathogenic/Likely pathogenic 1 -211534 Simple 140642341 T . Benign/Likely benign 2 2 Severe X-linked myotubular myopathy;not specified 2017-07-12 -8.7 1.0 Benign/Likely benign 0 -211545 Simple 79442861 C . Likely benign 2 2 not specified;Distal arthrogryposis 2016-06-14 -5.7 1.5 Likely benign 0 -211546 Simple 183524782 G . Likely benign 2 2 not specified;Distal arthrogryposis 2016-06-14 -5.7 1.5 Likely benign 0 -211552 Simple 61735358 T . Benign/Likely benign 2 4 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified;not provided 2016-06-14 -14.100000000000001 1.5 Benign/Likely benign 0 -211555 Simple 34165480 A . Benign/Likely benign 2 2 not specified 2017-01-03 -9.0 1.0 Benign/Likely benign 0 -211575 Simple 377132067 G . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.1099999999999999 1.5 Uncertain significance 0 -211619 Simple 797045744 AA . Benign/Likely benign 2 2 not specified;Cornelia de Lange Syndrome 2016-06-14 -6.6 3.0 Likely benign 1 -211670 Simple 797045790 AACGGTAC . Pathogenic 2 2 Abnormality of cardiovascular system morphology;not provided;Malformation of the heart and great vessels 2017-01-06 9.6 3.0 Pathogenic/Likely pathogenic 1 -211684 Simple 141397228 A . Benign/Likely benign 2 3 Nephronophthisis;not specified 2017-07-28 -11.7 1.0 Benign/Likely benign 0 -211686 Simple 797045795 A . Uncertain significance 2 2 not specified 2016-10-14 -0.5700000000000001 1.5 Uncertain significance 0 -211691 Simple 751778015 C . Uncertain significance 2 2 not specified 2016-04-29 -0.54 2.0 Uncertain significance 0 -211693 Simple 151195816 T . Uncertain significance 2 2 not specified;Pitt-Hopkins-like syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -211726 Simple 797045813 TT . Pathogenic 2 2 Sotos syndrome 1;not provided 2016-10-26 9.6 3.0 Pathogenic/Likely pathogenic 1 -211766 Simple 144812594 A . Likely pathogenic 2 2 Tyrosinase-positive oculocutaneous albinism;not provided 2016-08-15 5.4 2.0 Likely pathogenic 0 -211768 Simple 368124046 T . Pathogenic 2 2 Tyrosinase-positive oculocutaneous albinism;not provided 2016-10-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -211801 Simple 199834691 G . Uncertain significance 2 2 not specified;Meier-Gorlin syndrome 2016-06-14 -0.54 2.0 Uncertain significance 0 -211806 Simple 61750441 G . Uncertain significance 2 2 not specified 2015-09-17 -0.51 2.5 Uncertain significance 0 -211825 Simple 797045861 AA . Pathogenic 2 2 Lissencephaly 1;not provided 2015-08-11 10.8 2.0 Pathogenic/Likely pathogenic 1 -211837 Simple 56270341 A . Benign/Likely benign 2 3 Non-syndromic X-linked intellectual disability;not specified 2017-07-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -211856 Simple 761299168 G . Uncertain significance 2 2 not specified 2017-07-13 -0.54 1.5 Uncertain significance 0 -211862 Simple 797045878 . . Likely benign 2 2 not specified 2017-04-17 -5.7 1.0 Likely benign 0 -211865 Simple 201943167 G . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -0.54 2.0 Uncertain significance 0 -211874 Simple 200610141 A . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -211875 Simple 375741970 A . Benign/Likely benign 2 3 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -211895 Simple 766877230 T . Uncertain significance 2 2 not specified 2016-11-02 -0.5700000000000001 1.5 Uncertain significance 0 -211901 Simple 41306749 T . Likely benign 2 2 not specified;not provided 2017-08-15 -6.0 0.5 Likely benign 0 -211903 Simple 142630105 T . Benign/Likely benign 2 2 not specified;not provided 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -211913 Simple 138077430 T . Uncertain significance 2 3 Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-07-04 -0.87 1.3333333333333333 Uncertain significance 0 -211914 Simple 201278290 A . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.54 1.5 Uncertain significance 0 -211915 Simple 781931836 T . Uncertain significance 2 2 not specified 2015-08-14 -0.54 2.0 Uncertain significance 0 -211920 Simple 141251138 T . Uncertain significance 2 2 Early infantile epileptic encephalopathy 12;not specified 2016-06-25 -0.54 2.0 Uncertain significance 0 -211922 Simple 532550120 T . Uncertain significance 2 2 not specified;Epileptic encephalopathy 2016-06-14 -0.54 2.0 Uncertain significance 0 -211926 Simple 146976547 A . Uncertain significance 2 2 not specified;not provided 2017-05-02 -0.5700000000000001 1.0 Uncertain significance 0 -211935 Simple 10654394 GCCGCTGCTGCCGCTGCT . Likely benign 2 3 Proopiomelanocortin deficiency;not specified;Monogenic Non-Syndromic Obesity 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -211941 Simple 377724143 G . Uncertain significance 2 2 not specified 2017-07-25 -0.5700000000000001 1.0 Uncertain significance 0 -211942 Simple 149948290 T . Benign/Likely benign 2 3 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8;not provided 2017-05-30 -15.0 0.0 Benign/Likely benign 0 -211945 Simple 535544133 A . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-06-19 -0.54 1.5 Uncertain significance 0 -211953 Simple 201513102 C . Uncertain significance 2 2 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -211960 Simple 369283461 G . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -211964 Simple 145151396 T . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -211972 Simple 797045904 - . Pathogenic 2 2 Macrocephaly/autism syndrome;Hereditary cancer-predisposing syndrome 2017-02-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -211974 Simple 146799286 C . Uncertain significance 2 3 not specified;Familial partial lipodystrophy 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -211979 Simple 797045905 G . Pathogenic 2 2 Warburg micro syndrome 1 2015-09-13 10.2 2.5 Pathogenic/Likely pathogenic 1 -211981 Simple 762181144 A . Uncertain significance 2 2 not specified 2017-02-16 -0.54 2.0 Uncertain significance 0 -211988 Simple 73098539 G . Benign 2 2 not specified 2015-12-03 -10.8 2.0 Benign/Likely benign 1 -211990 Simple 144263040 A . Likely benign 2 2 not specified 2016-10-28 -6.0 1.0 Likely benign 0 -212007 Simple 758990336 A . Uncertain significance 2 2 not specified 2016-05-10 -0.54 2.0 Uncertain significance 0 -212015 Simple 797045910 - . Benign 2 2 not specified 2015-09-10 -9.600000000000001 3.0 Benign/Likely benign 1 -212018 Simple 149189755 G . Benign/Likely benign 2 2 not specified 2016-02-26 -8.100000000000001 2.0 Likely benign 1 -212021 Simple 374660795 G . Uncertain significance 2 3 Microcephaly with mental retardation and digital anomalies;Seckel syndrome;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -212027 Simple 764297840 A . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2017-07-05 -0.5700000000000001 1.0 Uncertain significance 0 -212028 Simple 114926265 T . Benign/Likely benign 2 4 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-04-26 -21.0 0.5 Benign/Likely benign 0 -212029 Simple 143050366 G . Uncertain significance 2 2 not specified 2017-06-05 -0.54 1.5 Uncertain significance 0 -212032 Simple 150850005 C . Uncertain significance 2 2 not specified 2017-09-27 -0.5700000000000001 1.0 Uncertain significance 0 -212037 Simple 370671369 C . Uncertain significance 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -212055 Simple 181853315 T . Likely benign 2 2 not specified 2017-08-01 -5.7 1.0 Likely benign 0 -212065 Simple 61762296 A . Likely benign 2 2 Diamond-Blackfan anemia;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -212073 Simple 190887884 A . Benign/Likely benign 2 2 not specified;Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 2017-07-17 -8.7 1.0 Benign/Likely benign 0 -212085 Simple 117183725 A . Benign/Likely benign 2 2 not specified 2016-08-01 -8.7 1.5 Benign/Likely benign 0 -212088 Simple 76558016 T . Benign/Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy;not specified 2017-07-26 -8.7 1.0 Benign/Likely benign 0 -212099 Simple 797045932 - . Pathogenic 2 2 Central core disease;Myopathy 2015-08-24 10.8 2.0 Pathogenic/Likely pathogenic 1 -212104 Simple 748140394 T . Uncertain significance 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -1.47 1.2 Uncertain significance 0 -212108 Simple 780247476 A . Pathogenic/Likely pathogenic 2 2 Spastic ataxia Charlevoix-Saguenay type 2016-02-19 7.5 2.5 Likely pathogenic 1 -212112 Simple 144267558 T . Uncertain significance 2 3 Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia 2017-01-10 -0.84 1.6666666666666667 Uncertain significance 0 -212122 Simple 543538780 A . Benign/Likely benign 2 5 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-09-28 -23.4 1.2 Benign/Likely benign 0 -212125 Simple 797045942 A . Pathogenic/Likely pathogenic 2 2 Seizures;not provided 2015-10-19 7.800000000000001 2.5 Likely pathogenic 1 -212126 Simple 529842407 T . Uncertain significance 2 2 not specified 2016-06-23 -0.5700000000000001 1.5 Uncertain significance 0 -212127 Simple 765909421 G . Uncertain significance 2 2 not specified 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -212133 Simple 781515976 - . Uncertain significance 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-07-10 -0.5700000000000001 1.0 Uncertain significance 0 -212137 Simple 779536952 C . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-03-07 -0.5700000000000001 1.0 Uncertain significance 0 -212143 Simple 371056571 A . Uncertain significance 2 4 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.1400000000000001 1.0 Uncertain significance 0 -212144 Simple 373509391 G . Uncertain significance 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.87 1.0 Uncertain significance 0 -212145 Simple 61734352 T . Benign/Likely benign 2 6 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;not specified;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-10-09 -26.7 0.6666666666666666 Benign 1 -212148 Simple 201692549 A . Uncertain significance 2 4 Eichsfeld type congenital muscular dystrophy;not specified 2017-08-07 -1.14 1.25 Uncertain significance 0 -212178 Simple 148911180 T . Benign 2 2 not specified 2015-12-07 -10.8 2.0 Benign/Likely benign 1 -212181 Simple 137923286 T . Benign/Likely benign 2 2 not specified;not provided 2017-06-20 -8.4 1.0 Benign/Likely benign 0 -212198 Simple 797045969 A . Pathogenic 2 2 Early myoclonic encephalopathy;not provided 2017-09-07 10.8 1.5 Pathogenic/Likely pathogenic 1 -212209 Simple 140115896 T . Benign/Likely benign 2 3 Creatine deficiency, X-linked;not specified 2017-07-27 -14.7 1.0 Benign/Likely benign 0 -212213 Simple 150207268 T . Benign 2 2 Creatine deficiency, X-linked;not specified 2017-07-24 -12.0 0.5 Benign/Likely benign 1 -212214 Simple 376385129 C . Benign/Likely benign 2 3 Creatine deficiency, X-linked;not specified 2017-06-16 -11.7 0.6666666666666666 Benign/Likely benign 0 -212215 Simple 782373793 A . Benign/Likely benign 2 2 Creatine deficiency, X-linked;not specified 2017-03-09 -8.7 1.0 Benign/Likely benign 0 -212219 Simple 140892471 A . Likely benign 2 2 Fanconi anemia;not specified 2016-12-02 -5.7 1.5 Likely benign 0 -212222 Simple 138615800 T . Benign/Likely benign 2 3 Fanconi anemia;not specified;not provided 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -212230 Simple 797045977 - . Likely benign 2 2 not specified;not provided 2017-08-29 -5.7 1.0 Likely benign 0 -212232 Simple 114594206 T . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -20.4 1.0 Benign/Likely benign 0 -212233 Simple 375884151 T . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-07 -17.7 1.0 Benign/Likely benign 0 -212234 Simple 140000691 T . Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -10.8 1.75 Benign/Likely benign 1 -212236 Simple 112977340 C . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Coffin-Siris syndrome 2017-10-20 -20.4 0.75 Benign/Likely benign 0 -212238 Simple 112549813 G . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Coffin-Siris syndrome 2017-10-20 -17.4 0.75 Benign/Likely benign 0 -212239 Simple 376775933 T . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-07-27 -14.7 0.75 Benign/Likely benign 0 -212243 Simple 113955216 T . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-07 -19.8 1.25 Benign/Likely benign 0 -212248 Simple 56101423 T . Benign/Likely benign 2 5 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-07-31 -21.0 0.4 Benign/Likely benign 0 -212253 Simple 746219091 T . Uncertain significance 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.84 1.0 Uncertain significance 0 -212256 Simple 370424312 G . Uncertain significance 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -0.84 1.0 Uncertain significance 0 -212259 Simple 201665695 A . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified 2017-10-20 -15.0 0.3333333333333333 Benign/Likely benign 0 -212260 Simple 62639303 C . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -11.7 0.6666666666666666 Benign/Likely benign 0 -212262 Simple 547268941 C . Benign/Likely benign 2 5 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-14 -21.0 0.6 Benign/Likely benign 0 -212263 Simple 797045989 G . Likely pathogenic 2 2 Mental retardation, autosomal dominant 15;not provided 2017-05-09 5.7 1.0 Likely pathogenic 0 -212267 Simple 797045993 T . Pathogenic 2 2 Congenital muscular hypertrophy-cerebral syndrome 2017-06-07 10.8 1.5 Pathogenic/Likely pathogenic 1 -212281 Simple 797046000 - . Benign/Likely benign 2 2 not specified;not provided 2017-04-28 -8.4 1.0 Benign/Likely benign 0 -212288 Simple 34248802 - . Likely benign 2 3 Noonan syndrome;not specified;Gingival fibromatosis 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -212289 Simple 35129186 TATA . Likely benign 2 3 Noonan syndrome;not specified;Gingival fibromatosis 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -212290 Simple 144594804 C . Uncertain significance 2 3 Spastic paraplegia 4, autosomal dominant;not specified 2017-08-24 -0.84 1.3333333333333333 Uncertain significance 0 -212291 Simple 372900676 G . Uncertain significance 2 2 Spastic paraplegia 4, autosomal dominant;not specified 2015-03-12 -0.51 2.5 Uncertain significance 0 -212292 Simple 182080501 C . Uncertain significance 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2016-07-26 -0.54 2.0 Uncertain significance 0 -212294 Simple 797046003 TT . Pathogenic 2 3 Spastic paraplegia 7;Mitochondrial diseases;not provided 2017-06-30 16.2 1.6666666666666667 Pathogenic 0 -212300 Simple 797046006 C . Likely pathogenic 2 2 Cerebellar ataxia;not provided 2015-09-08 5.1 2.5 Likely pathogenic 0 -212305 Simple 192401229 C . Likely benign 2 2 not specified;Bone marrow failure syndrome 1 2016-06-14 -5.7 1.5 Likely benign 0 -212323 Simple 144746030 A . Uncertain significance 2 2 not specified 2016-06-07 -0.54 2.0 Uncertain significance 0 -212336 Simple 139075013 T . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -212345 Simple 139238702 G . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-03-29 -0.54 1.5 Uncertain significance 0 -212353 Simple 139841529 T . Benign 2 2 Mental retardation, autosomal dominant 5;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -212379 Simple 797046035 GG . Pathogenic/Likely pathogenic 2 2 Pitt-Hopkins syndrome 2015-06-03 7.5 2.5 Likely pathogenic 1 -212383 Simple 56180593 T . Benign/Likely benign 2 5 Treacher Collins syndrome 1;not specified;not provided;Treacher Collins Syndrome, Dominant 2017-05-11 -24.0 0.8 Benign 1 -212388 Simple 145374149 T . Uncertain significance 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-09-29 -1.17 1.25 Uncertain significance 0 -212389 Simple 760830696 - . Pathogenic 2 2 Meckel syndrome type 8;not provided 2016-07-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -212390 Simple 141088838 T . Benign/Likely benign 2 2 not specified;not provided 2016-12-28 -5.7 1.5 Likely benign 1 -212392 Simple 41291570 A . Benign/Likely benign 2 2 not specified;not provided 2016-12-28 -5.7 1.5 Likely benign 1 -212413 Simple 62000429 G . Benign/Likely benign 2 4 Nemaline myopathy 1;Congenital myopathy with fiber type disproportion;not specified 2017-08-09 -16.5 1.25 Benign/Likely benign 0 -212415 Simple 145782440 T . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -212416 Simple 145960296 T . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -212421 Simple 375300224 A . Uncertain significance 2 2 not specified 2017-09-29 -0.54 1.5 Uncertain significance 0 -212426 Simple 769398594 A . Uncertain significance 2 2 not specified 2017-08-02 -0.54 1.5 Uncertain significance 0 -212432 Simple 150200902 T . Uncertain significance 2 3 not specified;Intellectual Disability, Recessive 2017-08-02 -0.84 1.3333333333333333 Uncertain significance 0 -212436 Simple 139631202 A . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -212438 Simple 61736350 G . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -212450 Simple 369805010 C . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -212455 Simple 201089582 T . Uncertain significance 2 5 Pontoneocerebellar hypoplasia;not specified 2017-08-18 -1.44 1.0 Uncertain significance 0 -212460 Simple 797046059 C . Uncertain significance 2 2 not specified 2016-07-15 -0.5700000000000001 1.5 Uncertain significance 0 -212471 Simple 773447539 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-29 -0.54 1.5 Uncertain significance 0 -212472 Simple 370583314 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-29 -0.54 1.5 Uncertain significance 0 -212473 Simple 375979145 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;not specified 2015-10-23 -0.51 2.5 Uncertain significance 0 -212475 Simple 371973579 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-27 -0.54 1.5 Uncertain significance 0 -212479 Simple 144398602 A . Uncertain significance 2 2 not specified 2016-03-03 -0.51 2.5 Uncertain significance 0 -212482 Simple 753636173 - . Uncertain significance 2 2 not specified 2015-06-16 -0.51 2.5 Uncertain significance 0 -212483 Simple 758207460 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-06-16 -0.54 2.0 Uncertain significance 0 -212493 Simple 762008241 G . Likely benign 2 2 not specified;Lissencephaly, Dominant 2016-06-14 -5.7 1.5 Likely benign 0 -212495 Simple 797046074 A . Pathogenic/Likely pathogenic 2 2 Cortical dysplasia, complex, with other brain malformations 5 2015-04-24 7.800000000000001 2.5 Likely pathogenic 1 -212497 Simple 797046075 T . Pathogenic/Likely pathogenic 2 2 Polymicrogyria, asymmetric;not provided 2017-02-07 8.1 2.5 Likely pathogenic 1 -212518 Simple 148626062 T . Uncertain significance 2 2 not specified;not provided 2016-09-13 -0.54 2.0 Uncertain significance 0 -212543 Simple 34946978 T . Likely pathogenic, other 2 2 not provided;Hyperbilirubinemia 2016-11-16 5.4 2.0 Likely pathogenic 0 -212552 Simple 114172780 T . Likely benign 2 2 not specified 2017-06-05 -6.0 0.5 Likely benign 0 -212553 Simple 182216426 G . Uncertain significance 2 2 not specified;Cerebellar hypoplasia 2016-06-14 -0.54 2.0 Uncertain significance 0 -212555 Simple 35948251 A . Uncertain significance 2 2 not specified;Cerebellar hypoplasia 2016-06-14 -0.54 2.0 Uncertain significance 0 -212561 Simple 145995735 G . Uncertain significance 2 2 not specified;Cerebellar hypoplasia 2016-06-14 -0.54 2.0 Uncertain significance 0 -212564 Simple 141850403 T . Uncertain significance 2 3 not specified;Cerebellar hypoplasia 2016-06-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -212568 Simple 143187571 G . Uncertain significance 2 2 not specified 2017-04-03 -0.54 1.5 Uncertain significance 0 -212577 Simple 61742808 A . Benign 2 2 Cohen syndrome;not specified 2017-08-07 -10.8 1.5 Benign/Likely benign 1 -212586 Simple 147604836 G . Uncertain significance 2 2 Pontocerebellar hypoplasia type 1A;not specified 2017-03-28 -0.54 1.5 Uncertain significance 0 -212587 Simple 372649110 A . Likely benign 2 1 not specified 2015-07-27 . 2.0 . 0 -212589 Simple 797046099 C . Uncertain significance 2 2 not specified 2015-06-22 -0.54 2.0 Uncertain significance 0 -212592 Simple 797046101 A . Pathogenic/Likely pathogenic 2 2 not provided;Neurodegeneration with brain iron accumulation 5;Neurodegeneration with brain iron accululation 5 2016-12-01 8.7 1.5 Pathogenic/Likely pathogenic 0 -212598 Simple 148667984 T . Uncertain significance 2 2 not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -212604 Simple 139946168 T . Uncertain significance 2 3 not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2016-06-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -212637 Simple 797046122 T . Pathogenic 2 2 Mowat-Wilson syndrome;not provided 2016-07-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -212644 Simple 773283542 - . Uncertain significance 2 2 not specified 2017-11-03 -0.5700000000000001 1.0 Uncertain significance 0 -212727 Simple 200692438 C . Likely pathogenic 2 2 Cone-rod dystrophy 3;Stargardt disease 1 2016-01-01 5.1 2.5 Likely pathogenic 0 -212728 Simple 772136379 G . Pathogenic/Likely pathogenic 2 2 Alstrom syndrome;not provided 2017-04-13 8.4 1.5 Pathogenic/Likely pathogenic 0 -212729 Simple 199545653 T . Likely pathogenic 2 2 Autosomal recessive congenital ichthyosis 2;not provided 2016-05-13 5.4 2.0 Likely pathogenic 0 -212733 Simple 751838040 A . Pathogenic/Likely pathogenic 2 3 Cockayne syndrome B;not provided 2016-09-09 13.8 2.0 Pathogenic/Likely pathogenic 0 -212778 Simple 191399793 A . Benign/Likely benign 2 2 Glycogen storage disease, type I;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -212780 Simple 116003934 T . Benign/Likely benign 2 2 not specified;Mitochondrial myopathy and sideroblastic anemia 2016-06-14 -7.2 2.5 Likely benign 1 -212781 Simple 12553247 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -7.2 2.5 Likely benign 1 -212791 Simple 77341011 A . Benign/Likely benign 2 4 Hereditary hemorrhagic telangiectasia type 2;Osler hemorrhagic telangiectasia syndrome;not specified 2017-03-22 -20.4 1.0 Benign/Likely benign 0 -212793 Simple 1058563 A . Benign/Likely benign 2 5 Hereditary hemorrhagic telangiectasia type 2;Osler hemorrhagic telangiectasia syndrome;not specified 2017-06-15 -23.4 2.0 Benign/Likely benign 0 -212796 Simple 863223408 A . Pathogenic 2 4 Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not specified;Pulmonary arterial hypertension;Epistaxis;not provided 2016-12-04 22.2 1.75 Pathogenic 0 -212801 Simple 863223412 A . Pathogenic/Likely pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;not provided 2017-07-12 8.4 1.0 Pathogenic/Likely pathogenic 0 -212802 Simple 863223413 T . Pathogenic 2 2 not specified;not provided 2017-06-22 10.8 1.5 Pathogenic/Likely pathogenic 1 -212803 Simple 863223414 A . Pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;not provided 2017-08-04 12.0 0.0 Pathogenic/Likely pathogenic 1 -212805 Simple 863223415 GG . Pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;not provided 2016-11-23 12.0 1.0 Pathogenic/Likely pathogenic 1 -212811 Simple 863223420 A . Pathogenic 2 2 Primary pulmonary hypertension;not provided 2015-09-15 10.8 2.0 Pathogenic/Likely pathogenic 1 -212821 Simple 145303290 A . Benign/Likely benign 2 2 Homocystinuria due to CBS deficiency;not specified 2017-05-09 -8.4 1.0 Benign/Likely benign 0 -212827 Simple 61735859 T . Benign/Likely benign 2 3 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-31 -13.8 1.0 Benign/Likely benign 0 -212834 Simple 143225442 T . Benign/Likely benign 2 3 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-15 -10.8 1.3333333333333333 Benign/Likely benign 0 -212843 Simple 140002610 A . Uncertain significance 2 3 Homocystinuria due to CBS deficiency;not specified 2017-06-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -212844 Simple 539326697 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2014-01-12 -0.39 4.5 Uncertain significance 0 -212851 Simple 139456571 A . Uncertain significance 2 4 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-27 -1.1099999999999999 1.25 Uncertain significance 0 -212856 Simple 863223432 T . Pathogenic 2 2 Homocystinuria due to CBS deficiency;not provided 2015-11-20 10.8 2.0 Pathogenic/Likely pathogenic 1 -212857 Simple 777919630 T . Pathogenic/Likely pathogenic 2 2 Homocystinuria due to CBS deficiency;not provided 2017-06-21 7.2 2.0 Likely pathogenic 1 -212859 Simple 372822486 C . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-07 -0.54 1.5 Uncertain significance 0 -212862 Simple 372010465 T . Pathogenic/Likely pathogenic 2 2 Homocystinuria due to CBS deficiency;not provided 2016-08-05 7.2 2.5 Likely pathogenic 1 -212869 Simple 150828989 T . Benign/Likely benign 2 3 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-26 -12.0 0.3333333333333333 Benign/Likely benign 0 -212872 Simple 148865119 A . Pathogenic/Likely pathogenic 2 4 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not provided 2017-09-01 15.0 0.25 Pathogenic 1 -212878 Simple 778220779 G . Pathogenic 2 3 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not provided 2017-01-25 15.6 2.3333333333333335 Pathogenic 0 -212879 Simple 147474549 T . Uncertain significance 2 2 Homocystinuria due to CBS deficiency;not specified 2017-08-17 -0.6 0.5 Uncertain significance 0 -212880 Simple 863223437 C . Uncertain significance 2 2 Homocystinuria due to CBS deficiency;not specified 2017-05-08 -0.6 0.0 Uncertain significance 0 -212886 Simple 78215347 T . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-03-10 -10.8 1.5 Benign/Likely benign 1 -212888 Simple 143858735 T . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-03-06 -11.4 1.0 Benign/Likely benign 1 -212889 Simple 61737719 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-28 -19.8 1.25 Benign/Likely benign 0 -212890 Simple 143443499 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-09 -19.2 1.5 Benign/Likely benign 0 -212891 Simple 369317619 C . Benign/Likely benign 2 1 not specified 2014-12-24 . 3.0 . 0 -212892 Simple 367755808 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-04-25 -7.8 1.5 Likely benign 1 -212893 Simple 377123592 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-04-13 -8.4 1.0 Benign/Likely benign 0 -212894 Simple 746845504 T . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-03-15 -11.4 1.0 Benign/Likely benign 1 -212897 Simple 200916696 A . Benign/Likely benign 2 1 not specified 2015-05-27 . 2.0 . 0 -212898 Simple 371821655 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-23 -10.5 1.6666666666666667 Benign/Likely benign 0 -212901 Simple 187584029 C . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2016-11-26 -7.8 2.0 Likely benign 1 -212904 Simple 571788196 T . Benign/Likely benign 2 1 not specified 2014-08-14 . 3.0 . 0 -212909 Simple 138436047 C . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-01-22 -11.4 1.5 Benign/Likely benign 1 -212910 Simple 147434147 T . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-03-19 -7.5 2.5 Likely benign 1 -212914 Simple 148294644 C . Benign/Likely benign 2 1 not specified 2014-07-31 . 3.0 . 0 -212916 Simple 41306397 T . Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-10-25 -12.0 0.25 Benign/Likely benign 1 -212917 Simple 145090868 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-04-12 -7.8 1.5 Likely benign 1 -212924 Simple 144763302 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-01-19 -16.5 1.75 Benign/Likely benign 0 -212925 Simple 201166370 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-04-28 -19.8 1.25 Benign/Likely benign 0 -212926 Simple 61729497 T . Benign/Likely benign 2 6 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-03 -25.5 1.3333333333333333 Benign 1 -212927 Simple 147292897 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2016-12-20 -14.100000000000001 1.6666666666666667 Benign/Likely benign 0 -212930 Simple 548525119 T . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-08-07 -17.7 0.8 Benign/Likely benign 0 -212931 Simple 863223441 - . Benign/Likely benign 2 1 not specified 2015-03-03 . 3.0 . 0 -212932 Simple 781485753 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-17 -0.6 0.0 Uncertain significance 0 -212935 Simple 535161301 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-22 -0.6 0.5 Uncertain significance 0 -212936 Simple 369000939 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-20 -0.6 0.5 Uncertain significance 0 -212937 Simple 557361751 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-08-01 -0.6 1.0 Uncertain significance 0 -212941 Simple 763246328 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-05 -0.6 0.5 Uncertain significance 0 -212944 Simple 577618553 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-04-12 -0.6 0.5 Uncertain significance 0 -212946 Simple 376920171 T . Uncertain significance 2 2 not specified 2016-05-03 -0.54 2.0 Uncertain significance 0 -212948 Simple 138259992 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-08-25 -0.6 0.0 Uncertain significance 0 -212949 Simple 760539229 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-13 -0.5700000000000001 1.0 Uncertain significance 0 -212951 Simple 375600865 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-04-20 -0.54 1.5 Uncertain significance 0 -212958 Simple 370321707 T . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-05-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -212967 Simple 863223451 A . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2016-05-22 -0.81 2.0 Uncertain significance 0 -212977 Simple 752334702 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-03-30 -0.6 0.5 Uncertain significance 0 -212979 Simple 145850743 A . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified;not provided 2017-09-11 -17.4 0.6 Benign/Likely benign 0 -212985 Simple 863223460 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2017-05-11 -0.6 0.5 Uncertain significance 0 -212988 Simple 546865410 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2016-01-12 -0.48 3.0 Uncertain significance 0 -212992 Simple 145175057 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -212997 Simple 138396959 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-11 -0.6 0.5 Uncertain significance 0 -213003 Simple 372168541 T . Uncertain significance 2 2 not specified;not provided 2017-02-23 -0.6 1.0 Uncertain significance 0 -213004 Simple 79138021 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-02-18 -0.54 2.0 Uncertain significance 0 -213006 Simple 139468527 T . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -21.0 0.4 Benign/Likely benign 0 -213011 Simple 142114921 G . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-06-21 -0.87 1.0 Uncertain significance 0 -213016 Simple 758431206 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-03-02 -0.48 3.0 Uncertain significance 0 -213018 Simple 145093766 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-30 -0.6 0.0 Uncertain significance 0 -213024 Simple 755546104 A . Uncertain significance 2 2 not specified;not provided 2017-05-04 -0.6 0.5 Uncertain significance 0 -213047 Simple 199735010 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-05-25 -0.6 0.5 Uncertain significance 0 -213058 Simple 201771867 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-03 -0.5700000000000001 1.0 Uncertain significance 0 -213071 Simple 770793962 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-07 -0.6 0.5 Uncertain significance 0 -213074 Simple 145281966 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-02 -15.0 0.5 Benign/Likely benign 0 -213077 Simple 5837121 - . Benign 2 2 not specified 2016-03-28 -10.8 2.0 Benign/Likely benign 1 -213078 Simple 375291199 G . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-25 -7.8 1.5 Likely benign 1 -213079 Simple 111644889 A . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-31 -10.8 1.5 Benign/Likely benign 1 -213080 Simple 111609220 A . Benign 2 1 not specified 2014-12-30 . 3.0 . 0 -213081 Simple 577038385 - . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -213085 Simple 78870279 T . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-23 -11.4 1.0 Benign/Likely benign 1 -213086 Simple 147420365 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-31 -0.6 0.0 Uncertain significance 0 -213089 Simple 140108893 A . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-02 -16.8 1.5 Benign/Likely benign 0 -213092 Simple 201486858 A . Uncertain significance 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-06 -1.2 0.5 Uncertain significance 0 -213094 Simple 144602736 C . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-02-02 -0.8999999999999999 1.0 Uncertain significance 0 -213099 Simple 145258293 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-08-01 -0.6 0.5 Uncertain significance 0 -213104 Simple 375334470 T . Likely benign 2 1 not specified 2016-09-30 . 1.0 . 0 -213105 Simple 34395097 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-19 -0.54 1.5 Uncertain significance 0 -213107 Simple 375124784 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-22 -0.6 0.5 Uncertain significance 0 -213112 Simple 369072636 A . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-28 -0.87 1.0 Uncertain significance 0 -213114 Simple 374549843 A . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-04-27 -0.78 2.0 Uncertain significance 0 -213115 Simple 761543775 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2016-10-18 -0.6 1.0 Uncertain significance 0 -213127 Simple 139229616 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-07 -6.0 0.0 Likely benign 0 -213128 Simple 141777954 A . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-07 -6.0 0.0 Likely benign 0 -213130 Simple 149064715 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2016-08-29 -0.6 1.0 Uncertain significance 0 -213132 Simple 761481937 T . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-28 -0.87 0.6666666666666666 Uncertain significance 0 -213134 Simple 149877855 T . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2017-07-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -213135 Simple 759604513 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -213138 Simple 762874073 G . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-14 -0.87 1.0 Uncertain significance 0 -213139 Simple 768807471 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -213142 Simple 863223502 A . Uncertain significance 2 2 Marfan syndrome;not specified 2015-08-31 -0.45 3.5 Uncertain significance 0 -213150 Simple 149737825 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-13 -0.6 0.0 Uncertain significance 0 -213152 Simple 141644853 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2016-10-26 -0.54 2.0 Uncertain significance 0 -213154 Simple 201186702 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-14 -0.54 1.5 Uncertain significance 0 -213164 Simple 61734584 A . Benign/Likely benign 2 5 Supravalvar aortic stenosis;not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2017-05-15 -17.7 1.0 Benign/Likely benign 0 -213166 Simple 142316834 T . Likely benign 2 3 not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -213167 Simple 111866046 C . Benign 2 4 Supravalvar aortic stenosis;not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2017-05-02 -21.6 1.75 Benign/Likely benign 1 -213171 Simple 145519139 A . Uncertain significance 2 3 Supravalvar aortic stenosis;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2017-03-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -213192 Simple 145612009 T . Uncertain significance 2 2 Supravalvar aortic stenosis;not specified 2017-08-04 -0.6 0.0 Uncertain significance 0 -213200 Simple 41322046 T . Benign/Likely benign 2 6 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2017-07-28 -30.0 0.8333333333333334 Benign 1 -213202 Simple 34828244 C . Benign/Likely benign 2 6 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2017-08-11 -29.4 1.0 Benign 1 -213203 Simple 41358947 G . Benign/Likely benign 2 6 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2017-08-17 -26.4 1.8333333333333333 Benign 1 -213213 Simple 863223539 T . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not provided 2017-03-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -213214 Simple 863223540 - . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not provided 2017-04-20 12.0 0.0 Pathogenic/Likely pathogenic 1 -213216 Simple 863223542 T . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not provided 2017-08-10 10.8 1.5 Pathogenic/Likely pathogenic 1 -213218 Simple 199560824 C . Uncertain significance 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-18 -1.14 1.0 Uncertain significance 0 -213222 Simple 75940000 T . Benign 2 2 Congenital contractural arachnodactyly;not specified 2017-06-25 -10.8 1.5 Benign/Likely benign 1 -213227 Simple 572013507 T . Benign/Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -213228 Simple 138834515 T . Uncertain significance 2 6 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified;not provided 2017-08-21 -1.7999999999999998 0.3333333333333333 Uncertain significance 0 -213229 Simple 199678757 C . Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2017-08-23 -6.0 0.5 Likely benign 0 -213232 Simple 79375977 G . Benign/Likely benign 2 3 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -213233 Simple 751938197 C . Benign/Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2016-08-31 -7.8 2.0 Likely benign 1 -213234 Simple 199640787 G . Benign/Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -213238 Simple 74811638 G . Benign/Likely benign 2 3 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -10.5 2.0 Benign/Likely benign 0 -213239 Simple 112666443 - . Benign 2 5 Congenital contractural arachnodactyly;not specified 2017-07-25 -27.6 1.6 Benign 0 -213241 Simple 148293104 C . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-23 -19.2 1.5 Benign/Likely benign 0 -213243 Simple 28763933 C . Benign/Likely benign 2 3 Congenital contractural arachnodactyly;not specified 2017-02-07 -13.8 1.6666666666666667 Benign/Likely benign 0 -213245 Simple 28763931 A . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-03 -19.2 1.5 Benign/Likely benign 0 -213246 Simple 140821039 C . Likely benign 2 3 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-09 -9.0 0.3333333333333333 Benign/Likely benign 1 -213247 Simple 192923239 T . Benign/Likely benign 2 3 Congenital contractural arachnodactyly;not specified 2017-07-31 -13.8 1.3333333333333333 Benign/Likely benign 0 -213249 Simple 199735209 T . Benign/Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2017-03-15 -7.8 1.5 Likely benign 1 -213250 Simple 863223546 C . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-03-20 -0.6 0.5 Uncertain significance 0 -213251 Simple 200998513 T . Benign 2 2 Congenital contractural arachnodactyly;not specified 2017-04-04 -10.8 1.5 Benign/Likely benign 1 -213252 Simple 28763923 C . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-06-23 -7.800000000000001 2.5 Likely benign 1 -213254 Simple 142755118 T . Uncertain significance 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-25 -1.2 0.75 Uncertain significance 0 -213259 Simple 146849637 T . Conflicting interpretations of pathogenicity 1 7 Congenital contractural arachnodactyly;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;not provided 2017-09-06 -24.0 0.42857142857142855 Benign 3 -213261 Simple 773011327 A . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-04-18 -0.48 2.5 Uncertain significance 0 -213263 Simple 34450503 G . Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-16 -12.0 0.75 Benign/Likely benign 1 -213264 Simple 146807421 T . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-01-18 -0.5700000000000001 1.5 Uncertain significance 0 -213266 Simple 148493036 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-02-03 -0.48 3.0 Uncertain significance 0 -213274 Simple 199587570 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-08-07 -0.51 2.5 Uncertain significance 0 -213280 Simple 863223554 C . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-08-12 -0.54 2.0 Uncertain significance 0 -213286 Simple 145259927 T . Conflicting interpretations of pathogenicity 1 6 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Brain Aneurysm 2017-07-13 -20.7 0.6666666666666666 Benign/Likely benign 3 -213287 Simple 150735582 T . Uncertain significance 2 3 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2015-11-01 -0.75 2.6666666666666665 Uncertain significance 0 -213288 Simple 139035999 G . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2014-05-28 -0.44999999999999996 3.5 Uncertain significance 0 -213303 Simple 863223562 G . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-03-01 -0.51 2.5 Uncertain significance 0 -213305 Simple 202050092 T . Uncertain significance 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-20 -1.2 0.75 Uncertain significance 0 -213306 Simple 202219940 A . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-09-05 -0.6 0.0 Uncertain significance 0 -213312 Simple 757232992 A . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-01-14 -0.54 2.0 Uncertain significance 0 -213319 Simple 142185964 T . Uncertain significance 2 2 not specified 2016-08-19 -0.5700000000000001 1.5 Uncertain significance 0 -213322 Simple 762514246 C . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-11-24 -0.5700000000000001 1.5 Uncertain significance 0 -213327 Simple 140812463 T . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-02-14 -0.6 1.0 Uncertain significance 0 -213333 Simple 143195229 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-05-24 -0.48 3.0 Uncertain significance 0 -213334 Simple 762108847 T . Uncertain significance 2 3 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -0.75 2.6666666666666665 Uncertain significance 0 -213337 Simple 201113098 G . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-09-20 -0.5700000000000001 1.5 Uncertain significance 0 -213338 Simple 779202876 G . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-03-15 -0.5700000000000001 1.5 Uncertain significance 0 -213339 Simple 766034866 G . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-09-26 -0.6 0.0 Uncertain significance 0 -213343 Simple 773305589 C . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-06-26 -0.6 0.5 Uncertain significance 0 -213350 Simple 145681607 C . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-10-10 -0.54 1.5 Uncertain significance 0 -213352 Simple 368802769 T . Uncertain significance 2 3 Congenital contractural arachnodactyly;not specified 2017-01-20 -0.84 1.6666666666666667 Uncertain significance 0 -213365 Simple 768750542 C . Uncertain significance 2 2 not specified;not provided 2017-03-27 -0.6 0.5 Uncertain significance 0 -213370 Simple 201962592 A . Uncertain significance 2 4 Congenital contractural arachnodactyly;not specified 2017-06-13 -1.2 0.75 Uncertain significance 0 -213375 Simple 753753954 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-09-07 -0.45 3.5 Uncertain significance 0 -213379 Simple 146941428 A . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-11-18 -0.51 2.5 Uncertain significance 0 -213388 Simple 150790914 T . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -213399 Simple 779690646 A . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-05-05 -0.54 1.5 Uncertain significance 0 -213401 Simple 765649978 C . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -213402 Simple 200481467 A . Uncertain significance 2 3 Congenital contractural arachnodactyly;not specified;not provided 2017-03-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -213404 Simple 375487064 T . Uncertain significance 2 3 Congenital contractural arachnodactyly;not specified 2017-09-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -213405 Simple 759131544 T . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-08-02 -0.5700000000000001 1.5 Uncertain significance 0 -213407 Simple 762139261 T . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-03-11 -0.5700000000000001 1.0 Uncertain significance 0 -213414 Simple 149537608 A . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-06-14 -0.48 3.0 Uncertain significance 0 -213418 Simple 863223611 C . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -213419 Simple 141707850 C . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-05-05 -0.6 0.5 Uncertain significance 0 -213420 Simple 766808076 C . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-09-02 -0.5700000000000001 1.5 Uncertain significance 0 -213423 Simple 201220519 A . Uncertain significance 2 5 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Craniosynostosis 2017-07-31 -1.5 0.8 Uncertain significance 0 -213428 Simple 373994051 T . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-07-06 -0.5700000000000001 1.5 Uncertain significance 0 -213430 Simple 765693576 G . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2016-01-31 -0.51 2.5 Uncertain significance 0 -213436 Simple 201550267 A . Benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-06-12 -10.8 1.5 Benign/Likely benign 1 -213437 Simple 782776511 T . Likely benign 2 2 not specified 2016-08-24 -5.4 2.0 Likely benign 0 -213438 Simple 192905521 G . Benign 2 2 not specified 2016-02-16 -10.2 2.5 Benign/Likely benign 1 -213439 Simple 34510365 T . Benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-05-13 -10.8 1.5 Benign/Likely benign 1 -213441 Simple 201603843 A . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2016-09-27 -9.0 1.0 Benign/Likely benign 0 -213449 Simple 183948518 A . Benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-06-05 -10.8 1.5 Benign/Likely benign 1 -213451 Simple 56102764 A . Benign/Likely benign 2 5 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-08-30 -20.4 1.0 Benign/Likely benign 0 -213452 Simple 377330443 A . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-16 -7.8 1.5 Likely benign 1 -213457 Simple 782721874 CGACGA . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-25 -12.0 0.3333333333333333 Benign/Likely benign 0 -213458 Simple 200763980 C . Benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-05-30 -10.8 1.5 Benign/Likely benign 1 -213466 Simple 782180774 A . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -213467 Simple 201656372 T . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-05-08 -9.0 0.5 Benign/Likely benign 0 -213471 Simple 201908251 T . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-02-07 -9.0 1.0 Benign/Likely benign 0 -213485 Simple 200198847 A . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided 2017-11-02 -12.0 0.3333333333333333 Benign/Likely benign 0 -213502 Simple 374130804 T . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2016-04-25 -0.5700000000000001 1.5 Uncertain significance 0 -213511 Simple 200836471 A . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-04-21 -0.54 1.5 Uncertain significance 0 -213520 Simple 782371735 T . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-25 -0.54 1.5 Uncertain significance 0 -213524 Simple 2273060 G . Benign 2 2 Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -213525 Simple 139574260 G . Likely benign 2 4 Arteriohepatic dysplasia;not specified;Cardiovascular phenotype;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -213526 Simple 2229895 A . Benign/Likely benign 2 4 Alagille syndrome 1;Arteriohepatic dysplasia;not specified;Cardiovascular phenotype;Isolated Nonsyndromic Congenital Heart Disease 2017-05-19 -17.4 1.0 Benign/Likely benign 0 -213527 Simple 145895196 T . Benign/Likely benign 2 3 Arteriohepatic dysplasia;not specified;not provided 2017-02-13 -8.7 1.3333333333333333 Benign/Likely benign 0 -213572 Simple 150662822 G . Benign/Likely benign 2 2 not specified;Dilated cardiomyopathy 1JJ 2017-03-08 -8.7 1.0 Benign/Likely benign 0 -213573 Simple 112305543 T . Benign 2 2 not specified;Dilated cardiomyopathy 1JJ 2017-07-10 -11.4 1.0 Benign/Likely benign 1 -213574 Simple 141926228 T . Benign/Likely benign 2 2 not specified 2015-07-29 -8.100000000000001 2.0 Likely benign 1 -213577 Simple 112265545 G . Benign/Likely benign 2 2 not specified 2015-05-06 -8.100000000000001 2.0 Likely benign 1 -213578 Simple 139241892 C . Benign 2 2 not specified;Dilated cardiomyopathy 1JJ 2017-06-14 -11.4 1.0 Benign/Likely benign 1 -213580 Simple 149615862 A . Likely benign 2 3 not specified;Dilated cardiomyopathy 1JJ 2017-10-02 -8.7 0.6666666666666666 Benign/Likely benign 1 -213585 Simple 374481199 T . Benign/Likely benign 2 2 not specified;Dilated cardiomyopathy 1JJ 2016-07-26 -8.4 1.5 Benign/Likely benign 0 -213594 Simple 782040284 A . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1JJ 2016-08-02 -0.54 2.0 Uncertain significance 0 -213597 Simple 200368819 T . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1JJ 2016-11-26 -0.5700000000000001 1.5 Uncertain significance 0 -213612 Simple 781939403 A . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1JJ 2016-03-11 -0.54 2.0 Uncertain significance 0 -213613 Simple 200301833 - . Benign 2 2 FG syndrome;not specified 2017-05-12 -10.8 1.5 Benign/Likely benign 1 -213619 Simple 786200970 CAGCAGCAGCAG . Likely benign 2 2 not specified 2016-07-28 -5.7 1.5 Likely benign 0 -213623 Simple 202009066 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-09-04 -0.54 2.0 Uncertain significance 0 -213650 Simple 863223713 - . Uncertain significance 2 2 FG syndrome;not specified 2017-10-25 -0.6 0.0 Uncertain significance 0 -213655 Simple 200791464 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-12 -0.6 0.5 Uncertain significance 0 -213656 Simple 755233280 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-07-14 -0.6 1.0 Uncertain significance 0 -213658 Simple 36000817 A . Benign 2 4 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome;not specified 2016-06-14 -22.2 1.75 Benign/Likely benign 1 -213659 Simple 111840875 T . Benign/Likely benign 2 6 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome;not specified 2017-07-24 -28.8 1.1666666666666667 Benign 1 -213663 Simple 140178396 T . Benign/Likely benign 2 2 Shprintzen-Goldberg syndrome;not specified 2017-05-02 -8.4 1.0 Benign/Likely benign 0 -213664 Simple 368128582 A . Benign/Likely benign 2 2 Shprintzen-Goldberg syndrome;not specified 2016-07-01 -7.8 2.0 Likely benign 1 -213668 Simple 75280988 T . Benign/Likely benign 2 4 Shprintzen-Goldberg syndrome;not specified;not provided 2017-07-20 -21.0 0.75 Benign/Likely benign 0 -213669 Simple 200242660 T . Benign/Likely benign 2 2 Shprintzen-Goldberg syndrome;not specified 2017-03-03 -7.8 2.0 Likely benign 1 -213673 Simple 150985728 T . Benign 2 2 Shprintzen-Goldberg syndrome;not specified 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -213674 Simple 111935632 T . Benign/Likely benign 2 5 Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-03 -24.0 2.0 Benign 1 -213677 Simple 144279718 C . Benign/Likely benign 2 2 Shprintzen-Goldberg syndrome;not specified 2017-07-25 -8.4 1.0 Benign/Likely benign 0 -213681 Simple 115746142 T . Benign 2 2 Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-14 -11.4 1.0 Benign/Likely benign 1 -213682 Simple 375024753 T . Benign/Likely benign 2 3 Shprintzen-Goldberg syndrome;not specified 2017-05-03 -11.4 0.6666666666666666 Benign/Likely benign 0 -213683 Simple 144874401 T . Benign/Likely benign 2 2 Shprintzen-Goldberg syndrome;not specified 2017-06-27 -10.8 1.5 Benign/Likely benign 0 -213685 Simple 139179843 G . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-03-08 -0.6 0.5 Uncertain significance 0 -213688 Simple 775433131 T . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-03-27 -0.54 1.5 Uncertain significance 0 -213689 Simple 200874294 A . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-05-24 -0.6 0.0 Uncertain significance 0 -213697 Simple 764786977 T . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-04-06 -0.6 0.0 Uncertain significance 0 -213699 Simple 750838146 G . Benign/Likely benign 2 3 Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-28 -11.4 0.6666666666666666 Benign/Likely benign 0 -213700 Simple 747798210 C . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-10-31 -0.6 0.0 Uncertain significance 0 -213720 Simple 139932041 A . Uncertain significance 2 4 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-11-08 -1.1099999999999999 1.25 Uncertain significance 0 -213725 Simple 148424607 A . Benign/Likely benign 2 2 Arterial tortuosity syndrome;not specified 2016-11-08 -7.8 2.0 Likely benign 1 -213729 Simple 199659394 T . Uncertain significance 2 2 Arterial tortuosity syndrome;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -213737 Simple 201393026 T . Uncertain significance 2 5 Aortic aneurysm, familial thoracic 2;Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-08 -1.5 0.6 Uncertain significance 0 -213739 Simple 563376340 T . Uncertain significance 2 2 Arterial tortuosity syndrome;not specified 2016-08-15 -0.5700000000000001 1.5 Uncertain significance 0 -213742 Simple 142577271 T . Uncertain significance 2 2 Arterial tortuosity syndrome;not specified 2017-06-22 -0.51 2.0 Uncertain significance 0 -213743 Simple 140312420 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-02-23 -0.54 2.0 Uncertain significance 0 -213757 Simple 187952791 A . Benign/Likely benign 2 6 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-27 -28.2 1.3333333333333333 Benign 1 -213758 Simple 145380987 T . Benign/Likely benign 2 4 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-11-08 -14.4 1.25 Benign/Likely benign 0 -213759 Simple 863223735 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-11-18 -0.5700000000000001 1.5 Uncertain significance 0 -213762 Simple 863223737 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-12-21 -0.51 2.5 Uncertain significance 0 -213773 Simple 140880290 G . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2014-03-30 -0.48 3.0 Uncertain significance 0 -213777 Simple 863223748 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -213781 Simple 768713596 T . Pathogenic/Likely pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2017-04-22 9.0 0.5 Pathogenic/Likely pathogenic 0 -213783 Simple 375574124 A . Uncertain significance 2 2 Loeys-Dietz syndrome 3;not specified 2016-12-01 -0.5700000000000001 1.5 Uncertain significance 0 -213787 Simple 863223754 CC . Pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-14 12.0 0.0 Pathogenic/Likely pathogenic 1 -213788 Simple 863223755 - . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-22 -0.6 0.0 Uncertain significance 0 -213800 Simple 863223765 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-19 -0.6 0.5 Uncertain significance 0 -213802 Simple 863223766 G . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-10-17 -0.6 1.0 Uncertain significance 0 -213803 Simple 371876622 G . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-11 -0.54 1.5 Uncertain significance 0 -213809 Simple 113331638 A . Benign/Likely benign 2 2 Primary pulmonary hypertension;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -213810 Simple 61753157 T . Likely benign 2 3 Primary pulmonary hypertension;not specified 2016-06-14 -7.800000000000001 2.3333333333333335 Likely benign 0 -213813 Simple 77357563 A . Benign/Likely benign 2 6 Holt-Oram syndrome;not specified;Aortic valve disease 2;not provided;Cardiovascular phenotype 2017-07-10 -29.4 1.0 Benign 1 -213815 Simple 28730763 A . Benign 2 2 Holt-Oram syndrome;Aortic valve disease 2 2017-07-01 -12.0 0.5 Benign/Likely benign 1 -213825 Simple 147710408 C . Likely benign 2 2 Holt-Oram syndrome;not provided 2017-06-01 -6.0 0.5 Likely benign 0 -213832 Simple 863223788 A . Pathogenic 2 2 Aortic valve disease 2;not provided 2017-06-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -213833 Simple 200702935 T . Benign/Likely benign 2 2 Loeys-Dietz syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -213834 Simple 149215818 A . Benign/Likely benign 2 4 Holt-Oram syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -16.2 1.75 Benign/Likely benign 0 -213836 Simple 138514914 A . Benign/Likely benign 2 3 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -10.5 2.0 Benign/Likely benign 0 -213838 Simple 141225367 T . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-04-02 -7.5 2.5 Likely benign 1 -213839 Simple 201761868 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-02-16 -0.6 1.0 Uncertain significance 0 -213845 Simple 863223792 T . Pathogenic/Likely pathogenic 2 2 Loeys-Dietz syndrome 4;not provided 2017-02-06 6.0 1.0 Likely pathogenic 1 -213851 Simple 371241859 G . Uncertain significance 2 2 Holt-Oram syndrome;not specified 2017-06-14 -0.5700000000000001 1.0 Uncertain significance 0 -213853 Simple 112051451 G . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-12 -13.8 1.3333333333333333 Benign/Likely benign 0 -213855 Simple 863223798 TT . Benign/Likely benign 2 4 Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -13.8 1.5 Benign/Likely benign 0 -213863 Simple 863223805 - . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-27 -12.3 2.5 Benign/Likely benign 0 -213882 Simple 760079636 A . Likely pathogenic 2 3 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not provided 2017-06-22 8.7 1.0 Pathogenic/Likely pathogenic 1 -213902 Simple 863223834 G . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-11-28 -0.54 2.0 Uncertain significance 0 -213906 Simple 146030104 T . Benign/Likely benign 2 4 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -213907 Simple 751663055 T . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-24 -10.5 1.6666666666666667 Benign/Likely benign 0 -213908 Simple 143095746 A . Likely benign 2 4 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -213910 Simple 11466530 T . Benign/Likely benign 2 5 Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-25 -19.8 1.2 Benign/Likely benign 0 -213912 Simple 200111443 C . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-30 -6.0 0.5 Likely benign 0 -213915 Simple 863223838 G . Uncertain significance 2 2 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Familial thoracic aortic aneurysm 2017-07-27 -0.6 0.5 Uncertain significance 0 -213926 Simple 748480163 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-10-23 -0.48 3.0 Uncertain significance 0 -213942 Simple 863223856 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-22 -0.6 0.5 Uncertain significance 0 -213943 Simple 863223857 G . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-07-26 -0.51 2.5 Uncertain significance 0 -213973 Simple 61323727 T . Benign/Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -7.8 2.0 Likely benign 1 -213987 Simple 143380072 G . Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2017-08-31 -6.0 0.5 Likely benign 0 -213989 Simple 139073821 A . Uncertain significance 2 2 Acyl-CoA dehydrogenase family, member 9, deficiency of;not provided 2017-04-30 -0.6 0.5 Uncertain significance 0 -213995 Simple 202119704 G . Uncertain significance 2 2 Acyl-CoA dehydrogenase family, member 9, deficiency of;not specified 2017-06-20 -0.6 0.5 Uncertain significance 0 -214010 Simple 149931573 T . Uncertain significance 2 2 Acyl-CoA dehydrogenase family, member 9, deficiency of;not specified 2016-08-03 -0.6 1.0 Uncertain significance 0 -214026 Simple 76249490 T . Benign/Likely benign 2 4 not specified;not provided;Autosomal recessive cerebellar ataxia;Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2017-06-05 -13.8 1.25 Benign/Likely benign 0 -214031 Simple 115855910 A . Benign/Likely benign 2 2 not specified 2017-03-08 -7.8 1.5 Likely benign 1 -214036 Simple 56043893 T . Benign/Likely benign 2 3 not specified;Autosomal recessive cerebellar ataxia;Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -214042 Simple 756432144 A . Uncertain significance 2 2 not specified 2016-08-23 -0.6 1.0 Uncertain significance 0 -214046 Simple 863223885 GG . Pathogenic 2 2 Coenzyme Q10 deficiency, primary, 4;not provided 2017-02-22 10.2 2.5 Pathogenic/Likely pathogenic 1 -214051 Simple 556473698 - . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -214064 Simple 148294392 G . Benign/Likely benign 2 2 Cataract and cardiomyopathy;not specified;Cataract, autosomal recessive congenital 5 2017-05-22 -9.0 0.5 Benign/Likely benign 0 -214079 Simple 142069429 T . Uncertain significance 2 3 Cataract and cardiomyopathy;not specified;Congenital cataract 2017-10-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -214087 Simple 141305388 T . Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2017-04-05 -6.0 0.5 Likely benign 0 -214088 Simple 201062903 A . Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2017-06-16 -6.0 0.5 Likely benign 0 -214089 Simple 150055592 T . Benign/Likely benign 2 3 not specified;Sideroblastic Anemia and Ataxia 2016-08-04 -10.8 1.6666666666666667 Benign/Likely benign 0 -214090 Simple 145704441 T . Likely benign 2 3 not specified;Sideroblastic Anemia and Ataxia 2017-05-22 -9.0 0.3333333333333333 Benign/Likely benign 1 -214091 Simple 201799139 A . Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2016-06-14 -5.4 2.0 Likely benign 0 -214098 Simple 758646032 G . Uncertain significance 2 2 not specified;Sideroblastic Anemia and Ataxia 2017-09-22 -0.6 0.5 Uncertain significance 0 -214123 Simple 34600530 AA . Benign 2 4 not specified;Ataxia with Oculomotor Apraxia;Coenzyme Q10 deficiency, Oculomotor Apraxia Type 2016-06-14 -21.6 2.0 Benign/Likely benign 1 -214135 Simple 143241583 C . Uncertain significance 2 3 not specified;not provided;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2017-03-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -214139 Simple 759676953 T . Uncertain significance 2 2 not specified;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2016-06-14 -0.54 2.0 Uncertain significance 0 -214153 Simple 146227896 C . Uncertain significance 2 3 3-Methylglutaconic aciduria;not specified;not provided 2017-04-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -214159 Simple 148278887 A . Benign 2 2 not specified 2015-12-31 -10.2 2.5 Benign/Likely benign 1 -214170 Simple 150626228 A . Uncertain significance 2 2 not specified;Multiple mitochondrial dysfunctions syndrome 2017-11-03 -0.6 0.5 Uncertain significance 0 -214180 Simple 182559752 A . Likely benign 2 5 not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2016-06-14 -14.4 1.4 Benign/Likely benign 1 -214217 Simple 148156462 G . Benign/Likely benign 2 1 not specified 2015-01-20 . 3.0 . 0 -214223 Simple 566165293 A . Likely benign 2 1 not specified 2016-12-30 . 1.0 . 0 -214243 Simple 76508383 A . Uncertain significance 2 3 not specified;not provided;Coenzyme Q10 deficiency, primary 2017-06-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -214248 Simple 11547480 G . Uncertain significance 2 2 not specified;Coenzyme Q10 deficiency, primary 2016-06-14 -0.54 2.0 Uncertain significance 0 -214263 Simple 138293000 C . Uncertain significance 2 2 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2017-05-02 -0.6 0.5 Uncertain significance 0 -214276 Simple 111638609 T . Uncertain significance 2 2 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-11-02 -0.6 1.0 Uncertain significance 0 -214305 Simple 138133550 T . Likely benign 2 2 not specified;Lethal Encephalopathy 2016-06-14 -5.4 2.0 Likely benign 0 -214306 Simple 863223951 - . Benign 2 1 not specified 2014-03-31 . 3.0 . 0 -214309 Simple 138620818 G . Likely benign 2 2 not specified;Lethal Encephalopathy 2017-04-07 -6.0 0.5 Likely benign 0 -214313 Simple 863223953 T . Pathogenic 2 2 Encephalopathy due to defective mitochondrial and peroxisomal fission 1;not provided 2017-09-27 12.0 0.0 Pathogenic/Likely pathogenic 1 -214315 Simple 143236486 A . Likely benign 2 2 not specified;Lethal Encephalopathy 2016-06-14 -5.7 1.5 Likely benign 0 -214327 Simple 34382405 G . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 14 2017-07-26 -10.8 1.5 Benign/Likely benign 1 -214347 Simple 34709212 A . Benign 2 2 not specified;not provided 2015-06-04 -10.2 2.5 Benign/Likely benign 1 -214348 Simple 79652942 G . Benign 2 2 not specified;not provided 2017-01-12 -10.8 2.0 Benign/Likely benign 1 -214356 Simple 773832405 G . Uncertain significance 2 2 not specified;not provided 2017-05-01 -0.54 1.5 Uncertain significance 0 -214360 Simple 145771944 A . Likely benign 2 2 not specified;not provided 2017-02-22 -5.7 1.5 Likely benign 0 -214364 Simple 758609113 T . Pathogenic/Likely pathogenic 2 2 Fructose-biphosphatase deficiency;not provided 2017-03-27 8.4 1.5 Pathogenic/Likely pathogenic 0 -214371 Simple 200942733 A . Benign/Likely benign 2 5 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Multiple Cutaneous and Uterine Leiomyomas 2016-07-26 -16.8 1.4 Benign/Likely benign 0 -214374 Simple 863223966 C . Pathogenic/Likely pathogenic 2 3 Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-03-03 15.0 1.0 Pathogenic 1 -214389 Simple 863223980 A . Pathogenic 2 3 Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-09-28 17.4 1.0 Pathogenic 0 -214390 Simple 145116688 C . Uncertain significance 2 2 Fumarase deficiency;not specified 2017-05-10 -0.6 0.0 Uncertain significance 0 -214399 Simple 756469140 - . Pathogenic 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-01-17 23.4 1.25 Pathogenic 0 -214405 Simple 863223992 GTGA . Pathogenic 2 3 Fumarase deficiency;not provided;Hereditary cancer-predisposing syndrome 2017-03-13 17.4 1.0 Pathogenic 0 -214407 Simple 863223994 TCCATTTTTCCATTTT . Pathogenic 2 2 Fumarase deficiency;not provided 2016-10-31 11.4 1.5 Pathogenic/Likely pathogenic 1 -214408 Simple 863223995 - . Pathogenic 2 2 Hereditary leiomyomatosis and renal cell cancer;not provided 2017-10-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -214413 Simple 863224000 G . Likely pathogenic 2 3 Fumarase deficiency;not provided;Hereditary cancer-predisposing syndrome 2017-05-03 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -214416 Simple 863224002 T . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-14 6.0 1.0 Likely pathogenic 0 -214417 Simple 863224003 C . Uncertain significance 2 2 Hereditary leiomyomatosis and renal cell cancer;not specified 2017-01-17 -0.6 1.0 Uncertain significance 0 -214419 Simple 863224004 T . Pathogenic/Likely pathogenic 2 2 Fumarase deficiency;not provided 2017-07-31 9.0 0.5 Pathogenic/Likely pathogenic 0 -214422 Simple 863224007 T . Pathogenic 2 3 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided 2017-07-13 18.0 0.6666666666666666 Pathogenic 0 -214423 Simple 863224008 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-11-18 7.5 2.5 Likely pathogenic 1 -214425 Simple 863224010 C . Likely pathogenic 2 2 Hereditary leiomyomatosis and renal cell cancer;not provided 2017-01-17 6.0 1.0 Likely pathogenic 0 -214430 Simple 202166344 C . Uncertain significance 2 6 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2017-09-12 -1.7999999999999998 0.6666666666666666 Uncertain significance 0 -214433 Simple 779707997 C . Likely pathogenic 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-07-18 11.7 0.75 Pathogenic/Likely pathogenic 1 -214434 Simple 863224016 AA . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-18 10.2 2.5 Pathogenic/Likely pathogenic 1 -214458 Simple 161628 A . Benign/Likely benign 2 2 Glycogen storage disease, type I;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -214482 Simple 574200635 G . Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -5.7 1.5 Likely benign 0 -214492 Simple 191462023 A . Uncertain significance 2 2 not specified;Combined oxidative phosphorylation deficiency 2017-03-14 -0.6 0.5 Uncertain significance 0 -214540 Simple 73273316 T . Benign 2 2 not specified 2014-11-24 -9.6 3.0 Benign/Likely benign 1 -214545 Simple 74755920 C . Uncertain significance 2 2 not specified 2017-05-23 -0.5700000000000001 1.0 Uncertain significance 0 -214546 Simple 749799529 T . Uncertain significance 2 2 not specified 2017-11-03 -0.6 0.5 Uncertain significance 0 -214549 Simple 141357756 G . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-08-02 -13.8 1.3333333333333333 Benign/Likely benign 0 -214551 Simple 61755731 T . Uncertain significance 2 2 not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -214594 Simple 113974315 C . Benign/Likely benign 2 3 Leigh syndrome;not specified;not provided 2017-05-03 -13.8 1.3333333333333333 Benign/Likely benign 0 -214598 Simple 146630100 T . Uncertain significance 2 2 not specified 2016-02-09 -0.54 2.0 Uncertain significance 0 -214599 Simple 149693840 C . Uncertain significance 2 2 not specified 2017-01-31 -0.5700000000000001 1.5 Uncertain significance 0 -214615 Simple 199706677 A . Uncertain significance 2 2 Leigh syndrome;not specified 2017-05-16 -0.6 0.5 Uncertain significance 0 -214635 Simple 201258935 T . Benign/Likely benign 2 3 not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -214637 Simple 863224063 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-08-24 -0.6 0.0 Uncertain significance 0 -214638 Simple 76020240 A . Benign/Likely benign 2 4 not specified;not provided;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2017-04-05 -16.8 1.25 Benign/Likely benign 0 -214639 Simple 61733200 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2017-08-02 -16.8 1.25 Benign/Likely benign 0 -214648 Simple 369762154 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-10 -0.6 0.0 Uncertain significance 0 -214652 Simple 863224069 T . Pathogenic 2 2 Charcot-Marie-Tooth disease, type 2;not provided 2017-04-24 10.8 1.5 Pathogenic/Likely pathogenic 1 -214683 Simple 76148008 T . Uncertain significance 2 2 not specified;Combined oxidative phosphorylation deficiency 2017-10-17 -0.6 0.5 Uncertain significance 0 -214692 Simple 199842745 A . Uncertain significance 2 2 Mitochondrial complex I deficiency;not specified 2017-05-17 -0.6 0.5 Uncertain significance 0 -214700 Simple 863224081 - . Benign/Likely benign 2 2 not specified;not provided 2017-03-30 -7.8 1.5 Likely benign 1 -214702 Simple 138479490 - . Benign/Likely benign 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2017-11-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -214723 Simple 71579253 T . Uncertain significance 2 2 not specified;not provided 2017-05-18 -0.6 0.5 Uncertain significance 0 -214735 Simple 151286131 G . Uncertain significance 2 2 Mitochondrial complex I deficiency;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -214787 Simple 35086265 A . Likely benign 2 3 not specified;not provided 2017-06-20 -9.0 0.6666666666666666 Benign/Likely benign 1 -214794 Simple 144937332 C . Uncertain significance 2 2 Mitochondrial complex I deficiency;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -214795 Simple 144411579 G . Uncertain significance 2 2 not specified 2017-07-11 -0.5700000000000001 1.0 Uncertain significance 0 -214817 Simple 149323691 C . Uncertain significance 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -214830 Simple 775856806 G . Uncertain significance 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -214836 Simple 150278938 T . Uncertain significance 2 2 not specified 2017-05-12 -0.6 0.5 Uncertain significance 0 -214844 Simple 147787116 - . Benign/Likely benign 2 2 not specified;not provided 2015-09-04 -6.300000000000001 3.5 Likely benign 1 -214857 Simple 141400889 A . Uncertain significance 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -214860 Simple 376958800 A . Uncertain significance 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-12-19 -0.8999999999999999 1.0 Uncertain significance 0 -214868 Simple 76646410 A . Benign/Likely benign 2 2 not specified;Multiple mitochondrial dysfunctions syndrome 2016-06-14 -7.8 2.0 Likely benign 1 -214882 Simple 35867418 T . Uncertain significance 2 2 Mitochondrial complex I deficiency;not specified 2017-04-06 -0.6 0.5 Uncertain significance 0 -214894 Simple 184273607 G . Benign/Likely benign 2 2 not specified;Optic Atrophy, Dominant 2016-06-14 -7.8 2.0 Likely benign 1 -214897 Simple 150279202 T . Uncertain significance 2 2 not specified;Optic Atrophy, Dominant 2017-07-10 -0.6 0.5 Uncertain significance 0 -214930 Simple 201754585 T . Benign 2 2 not specified 2016-07-28 -9.6 3.0 Benign/Likely benign 1 -214932 Simple 150318528 C . Benign/Likely benign 2 2 not specified;not provided 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -214936 Simple 863224147 T . Pathogenic 2 2 Pyruvate dehydrogenase E1-alpha deficiency;not provided 2017-07-18 12.0 0.0 Pathogenic/Likely pathogenic 1 -214953 Simple 201033364 A . Benign/Likely benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -214958 Simple 75430333 G . Uncertain significance 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-08-05 -0.6 1.0 Uncertain significance 0 -214963 Simple 146876119 T . Uncertain significance 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2017-07-17 -0.6 0.5 Uncertain significance 0 -214982 Simple 34296355 - . Benign/Likely benign 2 2 not specified;Coenzyme Q10 deficiency, primary 2016-06-14 -6.6 3.0 Likely benign 1 -214987 Simple 35555197 T . Uncertain significance 2 2 not specified;Coenzyme Q10 deficiency, primary 2017-05-02 -0.6 0.5 Uncertain significance 0 -214999 Simple 35405862 C . Benign/Likely benign 2 2 not specified;not provided 2016-07-22 -7.8 2.0 Likely benign 1 -215004 Simple 140796438 G . Likely benign 2 3 not specified 2017-10-09 -8.7 1.0 Benign/Likely benign 1 -215018 Simple 61751983 C . Benign 2 3 not specified;not provided;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2017-02-28 -17.4 1.3333333333333333 Benign/Likely benign 1 -215055 Simple 772887102 C . Likely pathogenic 2 2 not provided;Inborn genetic diseases 2017-04-07 5.1 2.0 Likely pathogenic 0 -215059 Simple 139721632 A . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -0.51 2.5 Uncertain significance 0 -215069 Simple 760844669 T . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -0.54 2.0 Uncertain significance 0 -215123 Simple 111708860 C . Uncertain significance 2 4 Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified 2016-06-14 -1.08 2.0 Uncertain significance 0 -215149 Simple 147194699 A . Likely benign 2 2 not specified;not provided 2016-10-11 -5.7 1.5 Likely benign 0 -215152 Simple 145804755 C . Uncertain significance 2 4 Basal ganglia disease, biotin-responsive;not specified;not provided;Thiamine Metabolism Dysfunction Syndrome 2017-06-27 -1.2 0.75 Uncertain significance 0 -215155 Simple 11334205 - . Benign 2 3 not specified;Thiamine Metabolism Dysfunction Syndrome 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -215168 Simple 143511445 G . Benign/Likely benign 2 2 not specified 2017-01-16 -8.7 1.5 Benign/Likely benign 0 -215170 Simple 149101873 C . Benign/Likely benign 2 2 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 -6.6 3.0 Likely benign 1 -215189 Simple 56031686 T . Benign 2 2 Spastic paraplegia 7;not specified 2015-07-03 -10.2 2.5 Benign/Likely benign 1 -215194 Simple 2099104 A . Uncertain significance 2 3 Hereditary spastic paraplegia;not specified;not provided 2017-03-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -215195 Simple 35749032 G . Benign/Likely benign 2 3 Spastic paraplegia 7;not specified;Spastic Paraplegia, Recessive 2017-06-26 -13.8 1.3333333333333333 Benign/Likely benign 0 -215201 Simple 863224217 T . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.48 2.5 Uncertain significance 0 -215205 Simple 145776296 G . Uncertain significance 2 3 Spastic paraplegia 7;not specified 2017-07-14 -0.87 1.0 Uncertain significance 0 -215218 Simple 752623413 C . Pathogenic/Likely pathogenic 2 2 Spastic paraplegia 7;not provided 2017-05-17 9.0 0.0 Pathogenic/Likely pathogenic 0 -215219 Simple 140769107 A . Uncertain significance 2 3 Spastic paraplegia 7;not specified 2017-04-21 -0.87 1.0 Uncertain significance 0 -215225 Simple 62637580 A . Benign/Likely benign 2 3 Leigh syndrome;not specified 2017-08-10 -12.0 2.3333333333333335 Benign/Likely benign 0 -215237 Simple 863224228 AT . Pathogenic 2 3 Leigh syndrome;not provided 2017-05-26 17.4 1.0 Pathogenic 0 -215238 Simple 782490558 - . Pathogenic 2 2 Leigh syndrome;not provided 2017-06-27 12.0 0.0 Pathogenic/Likely pathogenic 1 -215261 Simple 200121712 A . Likely benign 2 3 not specified;Mitochondrial DNA depletion syndrome 2017-09-05 -9.0 0.3333333333333333 Benign/Likely benign 1 -215268 Simple 754140768 A . Uncertain significance 2 2 not specified;Mitochondrial DNA depletion syndrome 2017-02-01 -0.6 1.0 Uncertain significance 0 -215269 Simple 201491180 ACCG . Benign 2 2 not specified;Optic Atrophy, Recessive 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -215272 Simple 863224236 A . Benign/Likely benign 2 2 not specified;Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 2017-03-01 -7.8 2.0 Likely benign 1 -215275 Simple 375169579 A . Pathogenic 2 2 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type);not provided 2017-11-28 10.8 1.5 Pathogenic/Likely pathogenic 1 -215294 Simple 863224242 CC . Pathogenic 2 2 Liver failure acute infantile;not provided 2017-11-08 10.8 1.5 Pathogenic/Likely pathogenic 1 -215311 Simple 143189885 T . Uncertain significance 2 2 not specified;Combined oxidative phosphorylation deficiency 2017-05-30 -0.6 0.5 Uncertain significance 0 -215313 Simple 146326033 C . Uncertain significance 2 2 not specified;Combined oxidative phosphorylation deficiency 2017-05-11 -0.6 0.5 Uncertain significance 0 -215325 Simple 765007158 T . Likely benign 2 2 not specified;not provided 2017-09-15 -6.0 0.5 Likely benign 0 -215353 Simple 151277039 G . Benign/Likely benign 2 3 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -215356 Simple 147974629 A . Likely benign 2 3 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -8.4 1.6666666666666667 Benign/Likely benign 1 -215362 Simple 144783536 C . Likely benign 2 3 not specified 2017-09-25 -8.7 1.0 Benign/Likely benign 1 -215366 Simple 375263408 A . Benign/Likely benign 2 1 not specified 2014-08-14 . 3.0 . 0 -215369 Simple 139185707 A . Likely benign 2 3 not specified 2017-09-25 -8.7 1.0 Benign/Likely benign 1 -215380 Simple 71524367 A . Benign/Likely benign 2 4 not specified;not provided 2017-09-01 -14.4 0.75 Benign/Likely benign 0 -215395 Simple 142668478 A . Uncertain significance 2 3 not specified;not provided 2017-05-31 -0.81 1.6666666666666667 Uncertain significance 0 -215400 Simple 55674815 G . Uncertain significance 2 2 not specified 2015-06-23 -0.51 2.5 Uncertain significance 0 -215414 Simple 575851859 A . Uncertain significance 2 3 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-07-21 -0.8999999999999999 1.0 Uncertain significance 0 -215425 Simple 565781501 TT . Uncertain significance 2 2 not specified;not provided 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -215429 Simple 543609297 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease type 2E;not specified;Charcot-Marie-Tooth, Type 1 2017-08-04 -15.0 0.6666666666666666 Benign/Likely benign 0 -215430 Simple 185154886 C . Benign/Likely benign 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-09-21 -23.4 1.0 Benign/Likely benign 0 -215431 Simple 141454910 G . Benign/Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -8.7 1.0 Benign/Likely benign 0 -215434 Simple 863224274 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -12.0 0.6666666666666666 Benign/Likely benign 1 -215439 Simple 758294834 T . Benign 2 2 not specified;Hereditary cutaneous melanoma 2017-07-18 -11.4 1.0 Benign/Likely benign 1 -215440 Simple 764362225 T . Benign/Likely benign 2 4 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-26 -17.7 1.0 Benign/Likely benign 0 -215446 Simple 535965616 TTTTTA . Benign/Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-08-14 -8.7 1.0 Benign/Likely benign 0 -215454 Simple 863224275 - . Benign/Likely benign 2 2 Gorlin syndrome;not specified 2017-08-01 -8.4 1.0 Benign/Likely benign 0 -215455 Simple 863224276 - . Benign/Likely benign 2 2 Gorlin syndrome;not specified 2017-08-08 -8.4 1.0 Benign/Likely benign 0 -215456 Simple 145690756 A . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-23 -9.0 0.5 Benign/Likely benign 0 -215457 Simple 111446700 T . Benign/Likely benign 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -15.0 0.0 Benign/Likely benign 0 -215458 Simple 567994836 A . Benign/Likely benign 2 2 Gorlin syndrome;not specified 2017-01-21 -9.0 1.0 Benign/Likely benign 0 -215459 Simple 56007343 C . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -9.0 0.0 Benign/Likely benign 0 -215460 Simple 139071993 A . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-23 -9.0 0.0 Benign/Likely benign 0 -215461 Simple 140417636 A . Benign/Likely benign 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -12.0 0.3333333333333333 Benign/Likely benign 0 -215462 Simple 141082540 T . Benign 2 2 Neurofibromatosis, type 1;not specified 2016-12-02 -11.4 1.5 Benign/Likely benign 1 -215463 Simple 200937398 C . Benign 2 2 Neurofibromatosis, type 1;not specified 2016-09-13 -11.4 1.5 Benign/Likely benign 1 -215465 Simple 182709912 G . Benign/Likely benign 2 3 Neurofibromatosis, type 1;not specified 2017-08-29 -13.8 1.0 Benign/Likely benign 0 -215471 Simple 386654966 TG . Benign/Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-21 -14.4 0.6666666666666666 Benign/Likely benign 0 -215472 Simple 776103948 - . Benign/Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -215474 Simple 373797299 G . Benign/Likely benign 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -12.0 0.3333333333333333 Benign/Likely benign 0 -215475 Simple 141806359 AAAA . Benign/Likely benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-01-28 -13.200000000000001 2.6666666666666665 Benign/Likely benign 0 -215479 Simple 192889782 A . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;not specified;Familial hyperaldosteronism 2017-03-07 -18.0 0.75 Benign/Likely benign 0 -215485 Simple 371165052 T . Benign/Likely benign 2 3 Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -11.7 0.6666666666666666 Benign/Likely benign 0 -215486 Simple 576502224 A . Benign/Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-11-28 -9.0 1.0 Benign/Likely benign 0 -215489 Simple 114250766 C . Benign/Likely benign 2 2 Carcinoma of pancreas;Pancreatic adenocarcinoma 2016-09-30 -9.0 1.0 Benign/Likely benign 0 -215494 Simple 35398031 - . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-01-24 -15.0 1.0 Benign/Likely benign 0 -215495 Simple 138157585 A . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-04 . 0.0 . 0 -215496 Simple 571387097 GCCGCC . Benign 2 2 Heterotaxy syndrome;not specified 2016-03-11 -11.4 1.5 Benign/Likely benign 1 -215501 Simple 189732445 C . Benign/Likely benign 2 2 Lynch syndrome;not specified 2016-09-30 -9.0 1.0 Benign/Likely benign 0 -215503 Simple 183939417 G . Benign 2 2 Long QT syndrome;not specified 2016-12-08 -11.4 1.5 Benign/Likely benign 1 -215506 Simple 141323599 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, dominant intermediate C;not specified;Charcot-Marie-Tooth, Intermediate 2017-06-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -215507 Simple 35225609 A . Benign/Likely benign 2 4 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-06-28 -21.0 0.75 Benign/Likely benign 0 -215511 Simple 143627839 C . Benign/Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-07-04 -8.7 1.0 Benign/Likely benign 0 -215514 Simple 139768159 T . Benign/Likely benign 2 2 Nephronophthisis;not specified 2017-08-15 -8.7 1.0 Benign/Likely benign 0 -215518 Simple 375051705 C . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -215519 Simple 200243306 A . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2016-08-11 -8.4 1.5 Benign/Likely benign 0 -215522 Simple 200201741 C . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-04-21 -8.4 1.5 Benign/Likely benign 0 -215524 Simple 386799737 TG . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-16 . 0.0 . 0 -215526 Simple 71269007 CGCCCACCCCTCCAGCCA . Benign/Likely benign 2 2 Joubert syndrome;not specified 2017-01-19 -9.0 1.0 Benign/Likely benign 0 -215528 Simple 144483693 - . Benign/Likely benign 2 2 Jeune thoracic dystrophy 2017-06-07 -9.0 0.5 Benign/Likely benign 0 -215530 Simple 150329150 A . Benign/Likely benign 2 6 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-08-03 -20.7 1.0 Benign/Likely benign 0 -215531 Simple 141290380 T . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-08-10 -9.0 0.0 Benign/Likely benign 0 -215532 Simple 141244183 A . Benign/Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-21 -27.0 0.75 Benign 1 -215533 Simple 116035946 C . Benign/Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-22 -27.0 0.75 Benign 1 -215534 Simple 146666910 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-28 -8.7 1.0 Benign/Likely benign 0 -215535 Simple 766487430 - . Benign/Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -12.0 0.3333333333333333 Benign/Likely benign 0 -215536 Simple 185100172 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-20 -8.7 1.0 Benign/Likely benign 0 -215537 Simple 863224277 AT . Benign/Likely benign 2 2 Fanconi anemia;Hereditary cancer-predisposing syndrome 2017-08-03 -8.7 1.0 Benign/Likely benign 0 -215538 Simple 77021998 A . Benign/Likely benign 2 3 Fanconi anemia;not specified;not provided 2017-06-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -215539 Simple 34543395 A . Benign 2 1 Nephronophthisis;not specified 2017-01-16 . 1.0 . 0 -215540 Simple 587780841 T . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-13 -8.7 1.0 Benign/Likely benign 0 -215541 Simple 368783097 T . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-12 -8.7 1.0 Benign/Likely benign 0 -215542 Simple 150925674 C . Benign/Likely benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2015-10-28 -10.8 2.0 Benign/Likely benign 0 -215544 Simple 551990619 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2015-09-02 . 2.0 . 0 -215545 Simple 146789340 G . Benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth disease, demyelinating, type 4f 2017-08-09 -12.0 0.0 Benign/Likely benign 1 -215547 Simple 139624657 - . Benign 2 3 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth disease, demyelinating, type 4f;not specified 2017-08-09 -17.4 0.6666666666666666 Benign/Likely benign 1 -215548 Simple 142073418 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-02-15 -11.4 1.5 Benign/Likely benign 0 -215549 Simple 4747352 T . Benign/Likely benign 2 2 Brugada syndrome 4;Brugada syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -215553 Simple 751423790 T . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -12.0 0.75 Benign/Likely benign 1 -215554 Simple 762441650 T . Benign/Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-19 -11.4 1.3333333333333333 Benign/Likely benign 0 -215555 Simple 766325173 T . Likely benign 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-02 -12.0 0.75 Benign/Likely benign 1 -215556 Simple 36046448 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -215557 Simple 750259615 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-14 -5.7 1.5 Likely benign 0 -215558 Simple 369238363 T . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-21 -9.0 0.6666666666666666 Benign/Likely benign 1 -215559 Simple 863224278 C . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-31 -5.7 1.0 Likely benign 0 -215560 Simple 756609845 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-10-09 -8.7 1.0 Benign/Likely benign 1 -215562 Simple 147411334 C . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.8 1.2 Benign/Likely benign 0 -215564 Simple 863224281 T . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -11.7 1.0 Benign/Likely benign 1 -215568 Simple 863224285 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-31 -5.7 1.0 Likely benign 0 -215569 Simple 863224286 A . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2016-11-01 -5.4 2.0 Likely benign 0 -215571 Simple 863224287 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-06 -9.0 0.6666666666666666 Benign/Likely benign 1 -215573 Simple 770719841 A . Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-10-01 -13.200000000000001 2.2 Benign/Likely benign 1 -215578 Simple 370160823 G . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -11.4 1.0 Benign/Likely benign 0 -215582 Simple 758784434 A . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-23 -13.8 1.5 Benign/Likely benign 0 -215588 Simple 759029705 T . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-29 -11.100000000000001 1.75 Benign/Likely benign 1 -215589 Simple 863224295 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -11.4 1.25 Benign/Likely benign 1 -215590 Simple 863224296 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-06-25 -5.4 2.0 Likely benign 0 -215591 Simple 863224297 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2015-10-19 -7.800000000000001 2.3333333333333335 Likely benign 0 -215593 Simple 145747513 A . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-26 -13.5 2.0 Benign/Likely benign 0 -215594 Simple 863224298 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-05 -5.7 1.0 Likely benign 0 -215595 Simple 770321620 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-23 -5.7 1.5 Likely benign 0 -215601 Simple 863224303 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -215602 Simple 863224304 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -215603 Simple 863224305 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.4 Benign/Likely benign 1 -215605 Simple 863224306 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -215606 Simple 863224307 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -215608 Simple 762458631 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.4 Benign/Likely benign 1 -215609 Simple 863224309 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -215611 Simple 147275663 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -215614 Simple 763727386 G . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -18.0 0.3333333333333333 Benign/Likely benign 1 -215615 Simple 863224311 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -215618 Simple 863224312 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -215619 Simple 200757418 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -215620 Simple 863224313 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -215621 Simple 863224314 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -215622 Simple 863224315 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -215624 Simple 863224317 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-10-11 -6.0 1.0 Likely benign 0 -215625 Simple 863224318 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -215626 Simple 757430441 G . Likely benign 3 7 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 1.1428571428571428 Benign/Likely benign 1 -215627 Simple 562881210 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.6 Benign/Likely benign 1 -215628 Simple 863224319 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -215630 Simple 780590939 A . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2015-06-07 -5.4 2.0 Likely benign 0 -215631 Simple 863224321 G . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-31 -6.0 0.0 Likely benign 0 -215633 Simple 749753811 G . Likely benign 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-10-23 -8.4 1.3333333333333333 Benign/Likely benign 1 -215640 Simple 779504190 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-21 -5.7 1.5 Likely benign 0 -215642 Simple 775618855 A . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -8.7 1.0 Benign/Likely benign 1 -215643 Simple 863224327 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-25 -4.8 2.5 Likely benign 0 -215645 Simple 769018957 G . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-28 -11.7 1.25 Benign/Likely benign 1 -215646 Simple 863224329 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-10 -5.7 1.5 Likely benign 0 -215647 Simple 756239543 A . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 -11.4 1.5 Benign/Likely benign 1 -215648 Simple 749539614 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-27 -5.7 1.0 Likely benign 0 -215653 Simple 558590898 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -12.0 0.75 Benign/Likely benign 1 -215656 Simple 786202051 C . Likely benign 2 3 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 -8.7 1.0 Benign/Likely benign 1 -215657 Simple 863224334 T . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-10-28 -8.7 0.6666666666666666 Benign/Likely benign 1 -215660 Simple 863224335 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-30 -5.7 1.0 Likely benign 0 -215661 Simple 373155872 T . Likely benign 2 2 Lynch syndrome;not specified 2017-07-17 -6.0 0.5 Likely benign 0 -215666 Simple 267607817 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-31 -9.0 0.3333333333333333 Benign/Likely benign 1 -215668 Simple 767089159 T . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-19 -8.7 1.0 Benign/Likely benign 1 -215669 Simple 863224339 T . Likely benign 2 4 Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-02 -11.7 1.25 Benign/Likely benign 1 -215673 Simple 374675118 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -5.7 1.0 Likely benign 0 -215674 Simple 748427458 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -5.7 1.0 Likely benign 0 -215676 Simple 863224342 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-09-01 -5.4 2.0 Likely benign 0 -215677 Simple 863224343 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -215682 Simple 373930674 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-11-24 -6.0 0.0 Likely benign 0 -215684 Simple 779883480 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2016-11-30 -5.7 1.5 Likely benign 0 -215686 Simple 371643436 A . Likely benign 2 2 Gorlin syndrome;not specified 2017-08-21 -6.0 0.0 Likely benign 0 -215689 Simple 141134542 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-23 -6.0 0.5 Likely benign 0 -215700 Simple 369295226 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-20 -6.0 0.5 Likely benign 0 -215703 Simple 45529536 T . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -8.4 1.5 Benign/Likely benign 0 -215706 Simple 145893445 A . Likely benign 2 2 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -6.0 0.0 Likely benign 0 -215707 Simple 759576680 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-20 -5.4 1.5 Likely benign 0 -215709 Simple 768883989 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-07-13 -5.7 1.5 Likely benign 0 -215710 Simple 143671377 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-05-28 -5.1 2.5 Likely benign 0 -215711 Simple 762346437 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-08 -5.4 2.0 Likely benign 0 -215712 Simple 863224352 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-05-22 -5.4 2.0 Likely benign 0 -215714 Simple 863224354 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-05-26 -5.1 2.5 Likely benign 0 -215716 Simple 863224355 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-01 -5.7 1.5 Likely benign 0 -215718 Simple 750358089 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-06-18 -5.4 2.0 Likely benign 0 -215719 Simple 771837192 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-01 -5.7 1.0 Likely benign 0 -215722 Simple 777021090 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-22 -5.7 1.5 Likely benign 0 -215725 Simple 369366499 C . Benign/Likely benign 2 3 Neurofibromatosis, type 1;not specified 2017-07-25 -12.0 0.3333333333333333 Benign/Likely benign 0 -215732 Simple 587782187 C . Likely benign 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-27 -8.7 1.3333333333333333 Benign/Likely benign 1 -215733 Simple 17849090 C . Likely benign 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-03-23 -8.1 1.6666666666666667 Likely benign 0 -215734 Simple 774364894 A . Likely benign 2 3 PTEN hamartoma tumor syndrome;Cowden syndrome 1;Hereditary cancer-predisposing syndrome 2016-12-14 -8.4 1.6666666666666667 Benign/Likely benign 1 -215737 Simple 762297795 A . Likely benign 2 2 Peutz-Jeghers syndrome;not specified 2017-03-21 -6.0 0.5 Likely benign 0 -215738 Simple 758769888 A . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-01-17 -8.4 1.6666666666666667 Benign/Likely benign 1 -215739 Simple 863224361 A . Likely benign 2 2 Peutz-Jeghers syndrome;not specified 2017-03-29 -5.7 1.0 Likely benign 0 -215740 Simple 377502057 A . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -11.7 0.75 Benign/Likely benign 1 -215742 Simple 2075607 A . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -12.0 0.5 Benign/Likely benign 1 -215745 Simple 863224363 A . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2015-06-13 -5.4 2.0 Likely benign 0 -215746 Simple 863224364 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-07-30 -5.4 2.0 Likely benign 0 -215747 Simple 777084777 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-17 -8.4 1.3333333333333333 Benign/Likely benign 1 -215748 Simple 201873551 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -8.4 1.0 Benign/Likely benign 1 -215749 Simple 559051241 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-09 -8.7 1.3333333333333333 Benign/Likely benign 1 -215755 Simple 757157176 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-09 -5.7 1.0 Likely benign 0 -215756 Simple 863224367 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-10 -5.7 1.5 Likely benign 0 -215757 Simple 863224368 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-10-16 -5.4 2.0 Likely benign 0 -215760 Simple 574255227 C . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-09 -5.7 1.0 Likely benign 0 -215761 Simple 863224370 A . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-11-26 -5.7 1.5 Likely benign 0 -215762 Simple 757282628 A . Likely benign 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-10-03 -8.1 2.0 Likely benign 0 -215763 Simple 754020850 C . Likely benign 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-01-05 -8.100000000000001 2.0 Likely benign 0 -215764 Simple 370992294 A . Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -12.0 0.5 Benign/Likely benign 1 -215765 Simple 773519476 A . Likely benign 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-07-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -215766 Simple 201663073 T . Benign/Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -8.4 1.0 Benign/Likely benign 0 -215768 Simple 863224372 T . Likely benign 2 2 Von Hippel-Lindau syndrome 2016-09-26 -5.7 1.5 Likely benign 0 -215769 Simple 779157605 T . Likely benign 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -8.7 1.0 Benign/Likely benign 1 -215771 Simple 200865354 A . Likely benign 2 2 Long QT syndrome;not specified 2016-01-12 -5.4 2.0 Likely benign 0 -215775 Simple 373161548 T . Likely benign 2 2 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified 2017-05-18 -6.0 0.5 Likely benign 0 -215776 Simple 759919549 T . Likely benign 2 2 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified 2017-08-31 -6.0 0.0 Likely benign 0 -215781 Simple 532155333 T . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2015-05-22 -5.4 2.0 Likely benign 0 -215790 Simple 748950533 T . Benign/Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-19 -8.7 1.0 Benign/Likely benign 0 -215791 Simple 45572835 T . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-03-07 -6.0 0.5 Likely benign 0 -215794 Simple 863224380 G . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-08-19 -5.7 1.5 Likely benign 0 -215798 Simple 149334084 G . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-01-26 -5.7 1.5 Likely benign 0 -215802 Simple 113515140 A . Likely benign 2 2 Carcinoma of pancreas;Pancreatic adenocarcinoma 2016-09-30 -6.0 1.0 Likely benign 0 -215823 Simple 863224392 C . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-07-31 -6.0 0.5 Likely benign 0 -215824 Simple 137857529 A . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -11.4 1.25 Benign/Likely benign 1 -215826 Simple 863224393 G . Likely benign 2 2 Juvenile polyposis syndrome;not specified 2017-04-16 -6.0 0.5 Likely benign 0 -215828 Simple 772729006 G . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 -5.4 1.5 Likely benign 0 -215829 Simple 751815388 A . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -8.1 1.6666666666666667 Likely benign 0 -215833 Simple 368770384 A . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -9.0 0.3333333333333333 Benign/Likely benign 1 -215834 Simple 776624068 T . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -9.0 0.3333333333333333 Benign/Likely benign 1 -215836 Simple 774962542 G . Likely benign 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-03-21 -14.4 1.2 Benign/Likely benign 1 -215839 Simple 149184234 A . Likely benign 2 2 Charcot-Marie-Tooth disease, type 1C;not specified 2017-03-09 -6.0 0.5 Likely benign 0 -215842 Simple 863224400 T . Likely benign 2 2 Juvenile polyposis syndrome;not specified 2017-02-01 -5.7 1.5 Likely benign 0 -215843 Simple 863224401 C . Likely benign 2 2 Juvenile polyposis syndrome;not specified 2015-12-08 -5.4 2.0 Likely benign 0 -215844 Simple 765597059 T . Likely benign 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -15.0 0.6 Benign/Likely benign 1 -215845 Simple 201110281 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2015-11-26 -5.4 2.0 Likely benign 0 -215848 Simple 863224404 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2015-09-27 -5.4 2.0 Likely benign 0 -215849 Simple 544844010 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-07-17 -5.7 1.5 Likely benign 0 -215854 Simple 863224408 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2015-05-21 -5.4 2.0 Likely benign 0 -215857 Simple 863224410 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-12-04 -5.7 1.5 Likely benign 0 -215858 Simple 863224411 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-12-24 -5.7 1.5 Likely benign 0 -215862 Simple 863224413 A . Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-01-05 -5.7 1.5 Likely benign 0 -215865 Simple 863224414 - . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -14.4 0.75 Benign/Likely benign 0 -215866 Simple 863224415 T . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-09-30 -8.4 1.6666666666666667 Benign/Likely benign 1 -215867 Simple 863224416 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -215871 Simple 863224418 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -215872 Simple 863224419 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -215873 Simple 371973519 A . Likely benign 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-27 -9.0 0.6666666666666666 Benign/Likely benign 1 -215875 Simple 746199881 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.25 Benign/Likely benign 1 -215882 Simple 141224290 T . Benign 2 2 Charcot-Marie-Tooth disease, type 2;Hereditary cancer-predisposing syndrome 2017-04-27 -11.4 1.0 Benign/Likely benign 1 -215884 Simple 148399669 C . Likely benign 2 2 Troyer syndrome;not specified 2017-05-23 -6.0 0.0 Likely benign 0 -215890 Simple 139163400 G . Likely benign 2 3 not specified;Spastic paraplegia 2017-07-31 -8.7 1.0 Benign/Likely benign 1 -215891 Simple 199630965 C . Likely benign 2 2 not specified;Spastic paraplegia 2016-03-05 -5.7 1.5 Likely benign 0 -215909 Simple 781145070 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;not specified 2017-06-10 -6.0 0.5 Likely benign 0 -215910 Simple 777349208 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-05-01 -5.7 1.0 Likely benign 0 -215913 Simple 755023496 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-27 -6.0 0.0 Likely benign 0 -215917 Simple 115861965 A . Benign/Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2016-10-13 -26.7 1.125 Benign 1 -215918 Simple 115976458 C . Likely benign 2 7 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2016-08-02 -21.0 1.0 Benign/Likely benign 1 -215919 Simple 148171058 T . Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-08-14 -24.0 0.75 Benign 2 -215920 Simple 115657305 A . Likely benign 2 9 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-09-15 -26.7 1.0 Benign 2 -215926 Simple 773001248 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-12-19 -11.7 1.25 Benign/Likely benign 1 -215927 Simple 746702349 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -215928 Simple 199682414 T . Likely benign 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-22 -11.7 1.0 Benign/Likely benign 1 -215930 Simple 863224429 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-30 -9.0 0.3333333333333333 Benign/Likely benign 1 -215931 Simple 730881888 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-29 -8.7 1.0 Benign/Likely benign 1 -215932 Simple 752928633 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.0 Likely benign 0 -215936 Simple 757444247 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -8.7 1.0 Benign/Likely benign 1 -215937 Simple 763330757 G . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-24 -8.7 1.0 Benign/Likely benign 1 -215938 Simple 371612049 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-07 -5.4 1.5 Likely benign 0 -215939 Simple 111574617 C . Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-07-31 -6.0 0.5 Likely benign 0 -215940 Simple 113301547 G . Benign/Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not provided 2016-11-24 -9.0 1.0 Benign/Likely benign 0 -215942 Simple 150689014 G . Likely benign 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2017-08-09 -6.0 0.5 Likely benign 0 -215945 Simple 147538736 T . Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-17 -5.7 1.0 Likely benign 0 -215946 Simple 863224431 G . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -215950 Simple 776990704 T . Likely benign 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -17.7 1.0 Benign/Likely benign 1 -215954 Simple 370986989 G . Likely benign 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-11-22 -5.7 1.5 Likely benign 0 -215959 Simple 863224437 G . Likely benign 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-04-28 -14.4 1.2 Benign/Likely benign 1 -215963 Simple 369348210 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-08-11 -6.0 0.0 Likely benign 0 -215964 Simple 559635859 A . Likely benign 2 3 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-11-09 -8.4 1.6666666666666667 Benign/Likely benign 1 -215965 Simple 201829546 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-09-13 -6.0 1.0 Likely benign 0 -215966 Simple 199909967 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-08-04 -6.0 0.5 Likely benign 0 -215969 Simple 143960329 G . Likely benign 2 2 Bardet-Biedl syndrome;not specified 2016-07-05 -6.0 1.0 Likely benign 0 -215974 Simple 150896551 T . Likely benign 2 1 Bardet-Biedl syndrome;not specified 2015-09-02 . 2.0 . 0 -215980 Simple 863224440 C . Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-12-14 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -215982 Simple 863224441 C . Pathogenic/Likely pathogenic 2 2 Fanconi anemia;not provided 2015-04-17 7.5 2.5 Likely pathogenic 1 -215996 Simple 375338359 G . Pathogenic/Likely pathogenic 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 9.0 0.0 Pathogenic/Likely pathogenic 0 -215997 Simple 863224451 T . Pathogenic/Likely pathogenic 2 3 Liver cancer;Chronic lymphocytic leukemia;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Kidney cancer;Li-Fraumeni syndrome;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Adrenocortical carcinoma;Ovarian Serous Cystadenocarcinoma 2017-07-26 11.4 0.6666666666666666 Pathogenic/Likely pathogenic 0 -216003 Simple 786203229 A . Likely pathogenic 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-18 12.0 0.25 Pathogenic/Likely pathogenic 1 -216004 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-12-13 11.4 1.5 Pathogenic/Likely pathogenic 1 -216007 Simple . . . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-22 8.4 1.5 Pathogenic/Likely pathogenic 0 -216014 Simple 121913333 T . Pathogenic/Likely pathogenic 2 4 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Colorectal Neoplasms;Familial adenomatous polyposis 2017-06-19 23.4 1.0 Pathogenic 1 -216017 Simple 863224458 T . Pathogenic 2 1 Familial adenomatous polyposis 1;Familial adenomatous polyposis 2015-05-09 . 2.0 . 0 -216021 Simple 780619951 T . Pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-11-08 30.0 0.4 Pathogenic 0 -216023 Simple 863224462 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -216024 Simple 772821016 T . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-27 24.0 0.5 Pathogenic 0 -216029 Simple 863224467 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -216030 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2015-10-02 10.2 2.5 Pathogenic/Likely pathogenic 1 -216031 Simple 863224468 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -216032 Simple 863224469 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 20.4 1.5 Pathogenic 0 -216033 Simple 55763607 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -216035 Simple 45476696 A . Pathogenic/Likely pathogenic 2 4 Melanoma-pancreatic cancer syndrome;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-03-09 21.0 0.75 Pathogenic 1 -216038 Simple 779696968 G . Pathogenic 2 3 Charcot-Marie-Tooth Neuropathy X;not provided 2017-05-02 17.4 0.6666666666666666 Pathogenic 0 -216039 Simple 863224471 T . Pathogenic/Likely pathogenic 2 3 Charcot-Marie-Tooth Neuropathy X;not provided 2017-03-28 14.4 1.0 Pathogenic/Likely pathogenic 0 -216044 Simple 863224475 - . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-05-23 11.4 1.5 Pathogenic/Likely pathogenic 1 -216055 Simple 863224483 A . Pathogenic/Likely pathogenic 2 1 Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy 2015-05-02 . 2.0 . 0 -216065 Simple 863224491 G . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-28 10.8 1.5 Pathogenic/Likely pathogenic 1 -216066 Simple 863224492 A . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-07-28 10.8 2.0 Pathogenic/Likely pathogenic 1 -216072 Simple 758048239 TT . Pathogenic 2 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-13 18.0 0.3333333333333333 Pathogenic 0 -216074 Simple 863224497 - . Pathogenic 2 2 Lynch syndrome;not provided 2016-09-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -216075 Simple 863224498 - . Pathogenic 2 2 Lynch syndrome;not provided 2016-04-21 11.4 1.5 Pathogenic/Likely pathogenic 1 -216077 Simple 760043106 G . Pathogenic/Likely pathogenic 2 2 Liver cancer;Chronic lymphocytic leukemia;Multiple myeloma;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Acute myeloid leukemia;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Pancreatic adenocarcinoma;Carcinoma of esophagus;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Uterine Carcinosarcoma 2017-01-16 12.0 1.0 Pathogenic/Likely pathogenic 0 -216080 Simple 863224501 - . Pathogenic/Likely pathogenic 2 2 MYH-associated polyposis;not provided 2016-08-22 8.4 1.5 Pathogenic/Likely pathogenic 0 -216094 Simple 863224508 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-03-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -216097 Simple 778555849 T . Pathogenic 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-01-20 17.4 1.3333333333333333 Pathogenic 0 -216099 Simple . . . Pathogenic 2 2 Familial cancer of breast;Breast and colorectal cancer, susceptibility to 2017-01-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -216102 Simple 863224510 AA . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 32.4 1.0 Pathogenic 0 -216103 Simple . . . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-10-02 15.600000000000001 2.3333333333333335 Pathogenic 0 -216104 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-01-07 11.4 1.5 Pathogenic/Likely pathogenic 1 -216105 Simple 863224511 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -216106 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-11-29 11.4 1.5 Pathogenic/Likely pathogenic 1 -216107 Simple 863224512 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -216112 Simple 863224514 - . Pathogenic 2 2 Spastic paraplegia 4, autosomal dominant;not provided 2017-07-05 10.8 1.5 Pathogenic/Likely pathogenic 1 -216121 Simple 863224521 AA . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-17 11.4 1.0 Pathogenic/Likely pathogenic 1 -216123 Simple 761101213 - . Pathogenic 2 2 Bardet-Biedl syndrome;Bardet-Biedl syndrome 10 2015-09-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -216124 Simple 863224522 T . Pathogenic/Likely pathogenic 2 2 Bardet-Biedl syndrome;Bardet-Biedl syndrome 10 2016-07-01 8.4 1.5 Pathogenic/Likely pathogenic 0 -216128 Simple 863224525 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-26 17.4 0.6666666666666666 Pathogenic 0 -216129 Simple 775171520 T . Pathogenic 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-10 18.0 0.6666666666666666 Pathogenic 0 -216132 Simple 779582317 C . Pathogenic/Likely pathogenic 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-02-02 10.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -216133 Simple 863224526 A . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-18 16.8 1.3333333333333333 Pathogenic 0 -216134 Simple 863224527 T . Pathogenic/Likely pathogenic 2 3 Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-01-05 10.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -216147 Simple 863224535 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-13 -0.5700000000000001 1.0 Uncertain significance 0 -216151 Simple 138098808 A . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-15 -1.5 0.2 Uncertain significance 0 -216153 Simple 761733547 T . Uncertain significance 2 6 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -1.77 0.5 Uncertain significance 0 -216158 Simple 755493779 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-01-27 -0.5700000000000001 1.5 Uncertain significance 0 -216159 Simple 863224541 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -1.17 0.75 Uncertain significance 0 -216160 Simple 753209586 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-06-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216162 Simple 202168805 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-04 -1.17 0.5 Uncertain significance 0 -216164 Simple 779898882 A . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.5 0.0 Uncertain significance 0 -216165 Simple 200803739 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-04-12 -0.5700000000000001 1.5 Uncertain significance 0 -216166 Simple 863224543 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216168 Simple 758987855 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-07 -0.6 1.0 Uncertain significance 0 -216172 Simple 863224546 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2015-11-12 -0.54 2.0 Uncertain significance 0 -216173 Simple 863224547 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-05-24 -0.5700000000000001 1.0 Uncertain significance 0 -216176 Simple 863224548 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -1.17 1.0 Uncertain significance 0 -216178 Simple 758713824 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-18 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -216180 Simple 863224550 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -216182 Simple 775012353 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.1099999999999999 1.5 Uncertain significance 0 -216183 Simple 767286063 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -1.2 0.5 Uncertain significance 0 -216185 Simple 755366812 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -216186 Simple 863224553 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-18 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -216188 Simple 780049836 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.2 0.5 Uncertain significance 0 -216190 Simple 863224555 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -216191 Simple 863224556 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -0.87 1.0 Uncertain significance 0 -216192 Simple 863224557 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216193 Simple 141175037 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216194 Simple 372230498 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.0 Uncertain significance 0 -216195 Simple 774395596 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-05-18 -0.54 2.0 Uncertain significance 0 -216196 Simple 863224558 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -216199 Simple 863224560 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -1.17 0.75 Uncertain significance 0 -216203 Simple 863224563 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-08-25 -0.54 2.0 Uncertain significance 0 -216204 Simple 863224564 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-21 -0.8999999999999999 1.0 Uncertain significance 0 -216205 Simple 534864280 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-12 -0.5700000000000001 1.0 Uncertain significance 0 -216206 Simple 863224565 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-08 -0.6 0.5 Uncertain significance 0 -216212 Simple 368606937 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-10-20 -0.6 0.0 Uncertain significance 0 -216215 Simple 766003804 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -9.0 0.0 Benign/Likely benign 1 -216216 Simple 863224572 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -1.14 1.25 Uncertain significance 0 -216217 Simple 759340881 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -1.2 0.0 Uncertain significance 0 -216218 Simple 760542469 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2015-11-04 -0.51 2.5 Uncertain significance 0 -216219 Simple 754058482 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -216221 Simple 863224574 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-03 -0.5700000000000001 1.5 Uncertain significance 0 -216222 Simple 762304746 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216225 Simple 863224577 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-01-22 -0.54 2.0 Uncertain significance 0 -216226 Simple 780946471 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-17 -0.6 0.5 Uncertain significance 0 -216228 Simple 863224579 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216230 Simple 768461085 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216235 Simple 748192003 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-06 -0.6 1.0 Uncertain significance 0 -216237 Simple 863224583 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-27 -0.87 0.6666666666666666 Uncertain significance 0 -216239 Simple 863224584 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -0.5700000000000001 1.0 Uncertain significance 0 -216240 Simple 863224585 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.8999999999999999 0.0 Uncertain significance 0 -216241 Simple 756951335 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-05 -0.5700000000000001 1.5 Uncertain significance 0 -216247 Simple 863224590 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-12-04 -0.54 2.0 Uncertain significance 0 -216248 Simple 863224591 - . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-01-26 -0.54 2.0 Uncertain significance 0 -216250 Simple 863224593 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-24 -0.54 2.0 Uncertain significance 0 -216253 Simple 730881550 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-05-26 -0.5700000000000001 1.5 Uncertain significance 0 -216254 Simple 863224596 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-26 -0.5700000000000001 1.5 Uncertain significance 0 -216255 Simple 370708814 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -0.87 1.0 Uncertain significance 0 -216257 Simple 767165913 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -3.57 1.0 Uncertain significance 2 -216258 Simple 55647716 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -1.2 0.75 Uncertain significance 0 -216259 Simple 863224598 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-05-10 -0.5700000000000001 1.5 Uncertain significance 0 -216261 Simple 774808067 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -6.57 1.0 Likely benign 0 -216265 Simple 863224601 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -0.84 1.3333333333333333 Uncertain significance 0 -216267 Simple 754588394 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-17 -0.5700000000000001 1.0 Uncertain significance 0 -216268 Simple 150281463 T . Uncertain significance 2 2 not specified;Hereditary cutaneous melanoma 2017-07-12 -0.6 0.5 Uncertain significance 0 -216269 Simple 863224603 C . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-21 -0.84 1.3333333333333333 Uncertain significance 0 -216270 Simple 563692823 G . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-05-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216274 Simple 104894094 G . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-02 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -216275 Simple 121913381 T . Uncertain significance 2 2 not specified;Hereditary cutaneous melanoma 2015-06-15 -0.54 2.0 Uncertain significance 0 -216277 Simple 751570838 . . Uncertain significance 2 5 Melanoma-pancreatic cancer syndrome;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-21 -1.5 0.2 Uncertain significance 0 -216279 Simple 140348260 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-01-11 -0.5700000000000001 1.5 Uncertain significance 0 -216284 Simple 766809608 G . Uncertain significance 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216285 Simple 55939573 T . Uncertain significance 2 2 Fanconi anemia;not specified 2017-04-04 -0.6 0.5 Uncertain significance 0 -216287 Simple 147479204 C . Uncertain significance 2 2 Fanconi anemia;not specified 2017-10-31 -0.6 0.5 Uncertain significance 0 -216291 Simple 369082921 T . Uncertain significance 2 2 Fanconi anemia;not specified 2016-05-02 -0.5700000000000001 1.5 Uncertain significance 0 -216296 Simple 863224616 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-08 -0.5700000000000001 1.5 Uncertain significance 0 -216299 Simple 863224618 A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-13 -0.87 1.0 Uncertain significance 0 -216302 Simple 755847154 G . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-12 -1.2 0.75 Uncertain significance 0 -216303 Simple 863224620 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-18 -0.5700000000000001 1.5 Uncertain significance 0 -216304 Simple 863224621 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -0.87 1.0 Uncertain significance 0 -216308 Simple 863224624 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-06-07 -0.5700000000000001 1.5 Uncertain significance 0 -216310 Simple 181727939 A . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-12 -0.87 1.3333333333333333 Uncertain significance 0 -216311 Simple 730881801 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216312 Simple 200492211 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-06-20 -0.5700000000000001 1.5 Uncertain significance 0 -216317 Simple 863224627 G . Uncertain significance 2 2 Lynch syndrome;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -216318 Simple 863224628 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216319 Simple 863224629 A . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-31 -0.75 2.6666666666666665 Uncertain significance 0 -216321 Simple 145959653 A . Uncertain significance 2 2 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-29 -0.6 1.0 Uncertain significance 0 -216323 Simple 55760494 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -0.87 1.0 Uncertain significance 0 -216325 Simple 776859837 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216327 Simple 776097223 T . Likely benign 2 2 Long QT syndrome;not specified 2017-05-03 -6.0 0.5 Likely benign 0 -216329 Simple 749334262 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216331 Simple 63751703 T . Uncertain significance 2 4 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -1.2 0.25 Uncertain significance 0 -216332 Simple 863224634 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-07 -0.6 1.0 Uncertain significance 0 -216333 Simple 863224635 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-25 -0.6 0.5 Uncertain significance 0 -216334 Simple 780199021 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216337 Simple 138705565 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-21 -1.2 0.0 Uncertain significance 0 -216340 Simple 863224639 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-06-05 -0.51 2.5 Uncertain significance 0 -216341 Simple 751431238 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216342 Simple 557339938 T . Uncertain significance 2 4 Lynch syndrome I;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-22 -1.2 0.25 Uncertain significance 0 -216344 Simple 730881777 T . Uncertain significance 2 4 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-16 -1.17 1.25 Uncertain significance 0 -216348 Simple 755920849 T . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-15 -1.47 0.4 Uncertain significance 0 -216350 Simple 772662439 A . Uncertain significance 2 6 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-23 -1.77 0.8333333333333334 Uncertain significance 0 -216352 Simple 757268664 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-12 -0.87 1.3333333333333333 Uncertain significance 0 -216353 Simple 63750368 A . Uncertain significance 2 3 Lynch syndrome I;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216354 Simple 767520406 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-25 -0.8999999999999999 0.0 Uncertain significance 0 -216355 Simple 863224641 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 -0.54 1.5 Uncertain significance 0 -216358 Simple 34319539 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-07 -0.54 1.5 Uncertain significance 0 -216359 Simple 34319539 T . Uncertain significance 2 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -1.47 0.8 Uncertain significance 0 -216363 Simple 863224645 C . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy 2017-09-12 -0.87 0.6666666666666666 Uncertain significance 0 -216378 Simple 750373573 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.0 Uncertain significance 0 -216383 Simple 781062564 A . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-10-19 -0.6 0.5 Uncertain significance 0 -216384 Simple 758728491 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 -0.5700000000000001 1.0 Uncertain significance 0 -216385 Simple 746339472 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -216388 Simple 187104739 T . Uncertain significance 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -0.8999999999999999 0.0 Uncertain significance 0 -216389 Simple 149667902 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-02-17 -0.5700000000000001 1.5 Uncertain significance 0 -216395 Simple 863224656 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-10-13 -0.54 2.0 Uncertain significance 0 -216398 Simple 199474763 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -216403 Simple 775206746 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-27 -0.6 0.5 Uncertain significance 0 -216404 Simple 751414513 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -216405 Simple 185660700 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-10 -0.5700000000000001 1.5 Uncertain significance 0 -216410 Simple 863224664 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-10-24 -0.6 0.0 Uncertain significance 0 -216411 Simple 748027595 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -216413 Simple 139527415 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-12 -5.4 1.5 Likely benign 0 -216414 Simple 144178015 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-22 -0.5700000000000001 1.5 Uncertain significance 0 -216421 Simple 551221430 G . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-24 -0.87 1.0 Uncertain significance 0 -216422 Simple 863224666 C . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2015-05-12 -0.54 2.0 Uncertain significance 0 -216423 Simple 863224667 G . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216425 Simple 149342416 C . Uncertain significance 2 2 Hemochromatosis type 1;not specified 2016-04-22 -0.54 2.0 Uncertain significance 0 -216428 Simple 757369900 G . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-03 -1.2 0.75 Uncertain significance 0 -216431 Simple 748464757 T . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-03-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216432 Simple 863224669 T . Conflicting interpretations of pathogenicity 1 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -3.3000000000000003 0.6666666666666666 Uncertain significance 0 -216437 Simple 863224670 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216439 Simple 748828467 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216441 Simple 777013688 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216443 Simple 863224673 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-30 -5.7 1.0 Likely benign 0 -216445 Simple 863224674 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-19 -0.5700000000000001 1.5 Uncertain significance 0 -216448 Simple 863224675 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-07 -0.6 0.0 Uncertain significance 0 -216450 Simple 376344586 C . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-20 -0.87 1.3333333333333333 Uncertain significance 0 -216451 Simple 370236216 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216455 Simple 63750770 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216457 Simple 863224678 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-18 -0.87 1.3333333333333333 Uncertain significance 0 -216458 Simple 863224679 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216461 Simple 573374779 A . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-10 -0.87 1.3333333333333333 Uncertain significance 0 -216462 Simple 375507981 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-13 -0.5700000000000001 1.5 Uncertain significance 0 -216463 Simple 863224682 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-03-09 -0.5700000000000001 1.0 Uncertain significance 0 -216464 Simple 370502517 G . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.5 Uncertain significance 0 -216466 Simple 863224683 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-04-07 -0.6 0.5 Uncertain significance 0 -216467 Simple 483352697 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216471 Simple 863224685 A . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.87 0.6666666666666666 Uncertain significance 0 -216472 Simple 770374782 A . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216474 Simple 766127339 G . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2015-09-25 -0.54 2.0 Uncertain significance 0 -216475 Simple 863224687 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-10-21 -0.5700000000000001 1.5 Uncertain significance 0 -216476 Simple 755333116 T . Uncertain significance 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2016-11-22 -0.87 1.3333333333333333 Uncertain significance 0 -216492 Simple 376335356 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-11-02 -0.5700000000000001 1.0 Uncertain significance 0 -216495 Simple 770368711 C . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-05-10 -0.6 0.5 Uncertain significance 0 -216500 Simple 561588772 C . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-10-28 -0.54 2.0 Uncertain significance 0 -216505 Simple 45612435 T . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-11-21 -0.5700000000000001 1.5 Uncertain significance 0 -216506 Simple 758292223 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -216507 Simple 199763277 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-12-07 -0.6 1.0 Uncertain significance 0 -216508 Simple 372830789 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-04-05 -0.6 0.5 Uncertain significance 0 -216509 Simple 374383028 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2015-07-07 -0.54 2.0 Uncertain significance 0 -216510 Simple 752669237 A . Uncertain significance 2 3 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-04-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216511 Simple 863224695 T . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.0 Uncertain significance 0 -216514 Simple 200776610 T . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.0 Uncertain significance 0 -216518 Simple 587780744 G . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2015-05-18 -0.54 2.0 Uncertain significance 0 -216520 Simple 375349172 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.1099999999999999 1.0 Uncertain significance 0 -216521 Simple 863224698 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -1.1099999999999999 1.5 Uncertain significance 0 -216523 Simple 863224700 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-02-02 -0.5700000000000001 1.5 Uncertain significance 0 -216527 Simple 142652341 C . Uncertain significance 2 2 Long QT syndrome;not specified 2017-02-08 -0.6 1.0 Uncertain significance 0 -216528 Simple 147619875 T . Uncertain significance 2 2 Long QT syndrome;not specified 2017-03-13 -0.6 0.5 Uncertain significance 0 -216547 Simple 137894161 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2016-05-05 -0.5700000000000001 1.5 Uncertain significance 0 -216550 Simple 369894731 A . Uncertain significance 2 4 Charcot-Marie-Tooth disease, type 2;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-05-04 -1.2 0.75 Uncertain significance 0 -216564 Simple 863224714 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -0.87 0.6666666666666666 Uncertain significance 0 -216567 Simple 201781110 G . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -1.2 0.5 Uncertain significance 0 -216576 Simple 576247658 C . Uncertain significance 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -1.47 0.6 Uncertain significance 0 -216577 Simple 758599378 T . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-20 -0.87 0.6666666666666666 Uncertain significance 0 -216580 Simple 863224719 G . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-08-08 -0.5700000000000001 1.5 Uncertain significance 0 -216581 Simple 781258592 G . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-16 -0.54 1.5 Uncertain significance 0 -216583 Simple 863224721 G . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-11-01 -0.5700000000000001 1.5 Uncertain significance 0 -216584 Simple 371904636 A . Uncertain significance 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -1.47 1.0 Uncertain significance 0 -216586 Simple 863224723 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-09-21 -0.6 1.0 Uncertain significance 0 -216587 Simple 863224724 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;not specified 2017-03-28 -0.5700000000000001 1.0 Uncertain significance 0 -216588 Simple 863224725 T . Uncertain significance 2 5 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -1.5 0.6 Uncertain significance 0 -216590 Simple 863224727 G . Uncertain significance 2 4 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-30 -1.08 1.75 Uncertain significance 0 -216592 Simple 753982211 C . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -8.7 0.6666666666666666 Benign/Likely benign 1 -216593 Simple 587781859 C . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.5 Uncertain significance 0 -216595 Simple 778019174 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-10-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216597 Simple 780399325 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-08-15 -0.5700000000000001 1.5 Uncertain significance 0 -216601 Simple 552590011 G . Uncertain significance 2 2 not specified;Rasopathy 2015-08-28 -0.54 2.0 Uncertain significance 0 -216604 Simple 863224733 T . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-03-07 -0.81 2.0 Uncertain significance 0 -216605 Simple 748283001 C . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -0.84 1.0 Uncertain significance 0 -216606 Simple 863224734 C . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -216608 Simple 771843497 G . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-04-18 -0.6 0.5 Uncertain significance 0 -216612 Simple 140130291 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-16 -0.5700000000000001 1.5 Uncertain significance 0 -216615 Simple 753958669 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-02-01 -0.54 2.0 Uncertain significance 0 -216616 Simple 764621889 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-02 -0.6 0.5 Uncertain significance 0 -216617 Simple 754054728 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -216619 Simple 776949511 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-03 -0.6 0.5 Uncertain significance 0 -216620 Simple 863224737 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-13 -0.6 1.0 Uncertain significance 0 -216621 Simple 863224738 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-15 -0.6 0.5 Uncertain significance 0 -216622 Simple 759505248 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-11-20 -0.6 0.0 Uncertain significance 0 -216623 Simple 572533256 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.0 Uncertain significance 0 -216624 Simple 759267791 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-08-23 -0.5700000000000001 1.5 Uncertain significance 0 -216626 Simple 771752930 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -216628 Simple 542347773 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-10 -0.6 1.0 Uncertain significance 0 -216630 Simple 863224741 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2015-04-10 -0.54 2.0 Uncertain significance 0 -216631 Simple 863224742 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2015-06-16 -0.51 2.5 Uncertain significance 0 -216632 Simple 863224743 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-13 -0.5700000000000001 1.5 Uncertain significance 0 -216633 Simple 863224744 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-12-04 -0.6 0.0 Uncertain significance 0 -216639 Simple 563752762 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -1.2 0.25 Uncertain significance 0 -216640 Simple 863224746 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -216641 Simple 863224747 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216643 Simple 863224748 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-09 -0.5700000000000001 1.5 Uncertain significance 0 -216645 Simple 863224749 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-06-26 -0.54 2.0 Uncertain significance 0 -216647 Simple 766599514 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-17 -0.6 1.0 Uncertain significance 0 -216651 Simple 779457035 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -1.2 0.25 Uncertain significance 0 -216652 Simple 764884641 - . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.5 0.4 Uncertain significance 0 -216654 Simple 863224752 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -0.87 0.6666666666666666 Uncertain significance 0 -216655 Simple 863224753 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -216656 Simple 863224754 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-08-07 -0.54 2.0 Uncertain significance 0 -216660 Simple 863224757 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-09-30 -5.7 1.5 Likely benign 0 -216661 Simple 863224758 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-24 -0.51 2.5 Uncertain significance 0 -216664 Simple 763354142 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-06 -1.1400000000000001 1.5 Uncertain significance 0 -216667 Simple 761640584 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-02 -0.8999999999999999 1.0 Uncertain significance 0 -216669 Simple 863224761 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-08 -0.87 1.3333333333333333 Uncertain significance 0 -216671 Simple 766305255 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-02-27 -0.5700000000000001 1.5 Uncertain significance 0 -216681 Simple 200970494 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2016-12-27 -0.5700000000000001 1.5 Uncertain significance 0 -216687 Simple 148833652 C . Uncertain significance 2 2 Troyer syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -216690 Simple 772679356 T . Uncertain significance 2 2 not specified;Spastic paraplegia 2016-01-08 -0.54 2.0 Uncertain significance 0 -216699 Simple 755608579 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -216703 Simple 200327783 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-04-05 -0.6 0.5 Uncertain significance 0 -216707 Simple 148508128 G . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type 4A;not specified;not provided 2017-06-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216713 Simple 536298339 G . Uncertain significance 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-03-11 -1.2 0.75 Uncertain significance 0 -216717 Simple 144455821 G . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.0 Uncertain significance 0 -216718 Simple 267607010 G . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2 2016-09-13 -0.87 1.3333333333333333 Uncertain significance 0 -216720 Simple 200634990 T . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2 2016-10-13 -0.8999999999999999 1.0 Uncertain significance 0 -216724 Simple 375390467 G . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2 2016-10-18 -0.87 1.3333333333333333 Uncertain significance 0 -216725 Simple 536486113 C . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-02-22 -0.87 1.3333333333333333 Uncertain significance 0 -216726 Simple 762626209 T . Uncertain significance 2 6 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-07-28 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -216727 Simple 79014735 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-03 -0.54 1.5 Uncertain significance 0 -216729 Simple 551142665 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.0 Uncertain significance 0 -216730 Simple 368116579 A . Likely benign 2 1 Multiple endocrine neoplasia, type 2;not specified 2017-06-30 . 0.0 . 0 -216731 Simple 863224778 G . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-03 -0.5700000000000001 1.0 Uncertain significance 0 -216733 Simple 138396764 T . Uncertain significance 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-02-09 -2.4 1.0 Uncertain significance 0 -216734 Simple 201927283 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2016-10-19 -0.5700000000000001 1.5 Uncertain significance 0 -216737 Simple 863224780 AA . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-27 -0.6 0.5 Uncertain significance 0 -216740 Simple 758139447 A . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -216742 Simple 146434474 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.2 0.5 Uncertain significance 0 -216743 Simple 45537237 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-11-27 -0.6 0.5 Uncertain significance 0 -216744 Simple 566813395 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-28 -0.87 1.0 Uncertain significance 0 -216750 Simple 863224783 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-29 -0.6 0.5 Uncertain significance 0 -216752 Simple 863224785 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-10 -0.6 0.5 Uncertain significance 0 -216753 Simple 747785029 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -1.47 1.0 Uncertain significance 0 -216755 Simple 863224787 A . Uncertain significance 2 2 Familial cancer of breast 2015-06-01 -0.54 2.0 Uncertain significance 0 -216756 Simple 45505500 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-26 -0.5700000000000001 1.0 Uncertain significance 0 -216757 Simple 863224788 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.0 Uncertain significance 0 -216761 Simple 751882053 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-11-12 -0.54 2.0 Uncertain significance 0 -216762 Simple 370887726 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-21 -0.87 0.6666666666666666 Uncertain significance 0 -216768 Simple 34925776 G . Uncertain significance 2 2 Jeune thoracic dystrophy;Nephronophthisis;not specified 2017-02-24 -0.6 1.0 Uncertain significance 0 -216769 Simple 535765861 A . Uncertain significance 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2015-10-05 -0.54 2.0 Uncertain significance 0 -216776 Simple 150028248 T . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-02-21 -0.8999999999999999 1.0 Uncertain significance 0 -216777 Simple 572571832 - . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-10-19 -0.6 0.0 Uncertain significance 0 -216783 Simple 748001678 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216784 Simple 863224798 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-01-24 -0.5700000000000001 1.5 Uncertain significance 0 -216785 Simple 764711572 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -1.2 0.25 Uncertain significance 0 -216788 Simple 760887592 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-11-30 -0.5700000000000001 1.0 Uncertain significance 0 -216789 Simple 146031731 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -1.2 0.0 Uncertain significance 0 -216792 Simple 757668121 A . Uncertain significance 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-11-30 -1.5 0.4 Uncertain significance 0 -216793 Simple 863224801 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-04-13 -1.2 0.75 Uncertain significance 0 -216798 Simple 769053886 T . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216800 Simple 45459799 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-07-03 -1.2 0.75 Uncertain significance 0 -216802 Simple 200720013 A . Uncertain significance 2 2 Nephronophthisis 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -216803 Simple 773998134 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -216807 Simple 755849719 T . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -216808 Simple 863224806 T . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -216811 Simple 201091135 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-06-22 -6.0 0.5 Likely benign 0 -216815 Simple 863224810 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-02-03 -0.54 2.0 Uncertain significance 0 -216820 Simple 41273722 A . Likely benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-05-24 -6.0 0.5 Likely benign 0 -216826 Simple 775883520 G . Pathogenic/Likely pathogenic 2 2 Joubert syndrome;Joubert syndrome 6 2016-03-04 7.5 2.5 Likely pathogenic 1 -216839 Simple 863224817 TT . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2015-07-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -216841 Simple 375614054 C . Uncertain significance 2 2 Brugada syndrome;Hypertrophic cardiomyopathy 2017-04-30 -0.5700000000000001 1.0 Uncertain significance 0 -216844 Simple 149668719 G . Uncertain significance 2 2 Bardet-Biedl syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -216848 Simple 863224820 - . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-14 17.4 0.6666666666666666 Pathogenic 0 -216850 Simple 863224822 - . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-31 18.0 0.3333333333333333 Pathogenic 0 -216852 Simple 863224824 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 16.8 2.0 Pathogenic 0 -216853 Simple 863224825 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -216854 Simple 863224826 AACAGAAACAGA . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.5700000000000001 1.0 Uncertain significance 0 -216855 Simple 863224827 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.3333333333333333 Pathogenic 0 -216856 Simple 745456776 GG . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 22.8 1.75 Pathogenic 0 -216857 Simple 863224828 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-09-08 21.0 1.25 Pathogenic 0 -216859 Simple 863224829 - . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -216863 Simple 863224833 TT . Pathogenic 2 2 Lynch syndrome;not provided 2017-07-12 11.4 1.0 Pathogenic/Likely pathogenic 1 -216865 Simple 863224835 - . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-27 10.8 2.0 Pathogenic/Likely pathogenic 1 -216866 Simple 863224836 - . Pathogenic 2 4 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-09-29 22.200000000000003 1.5 Pathogenic 0 -216869 Simple 876659850 CC . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-21 -0.6 0.5 Uncertain significance 0 -216870 Simple 863224839 - . Uncertain significance 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -0.87 0.6666666666666666 Uncertain significance 0 -216871 Simple 876660675 CAACA . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2015-09-09 -0.54 2.0 Uncertain significance 0 -216917 Simple 770649540 T . Likely pathogenic 2 2 not provided;Charcot-Marie-Tooth disease, axonal, type 2Q 2017-11-01 5.1 2.0 Likely pathogenic 0 -216919 Simple 146880270 A . Pathogenic/Likely pathogenic 2 2 Duchenne muscular dystrophy 2016-08-08 7.8 3.0 Likely pathogenic 1 -216949 Simple 794727813 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 7;not provided 2017-10-03 10.8 1.5 Pathogenic/Likely pathogenic 1 -217016 Simple 863224935 G . Pathogenic/Likely pathogenic 2 2 Loeys-Dietz syndrome 2;Thoracic aortic aneurysm and aortic dissection 2015-06-09 7.5 3.0 Likely pathogenic 1 -217025 Simple 767399782 T . Pathogenic/Likely pathogenic 2 2 Leukodystrophy, hypomyelinating, 6;not provided 2017-08-07 8.1 2.0 Likely pathogenic 1 -217028 Simple 121909330 C . Pathogenic/Likely pathogenic 2 2 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;not provided 2017-05-04 8.1 2.0 Likely pathogenic 1 -217143 Simple 566415362 T . Pathogenic 2 4 Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided 2017-07-26 22.200000000000003 1.5 Pathogenic 0 -217144 Simple 372221490 A . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 2L 2016-02-05 10.2 2.5 Pathogenic/Likely pathogenic 1 -217146 Simple 374665929 G . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;not provided 2017-04-28 16.8 1.3333333333333333 Pathogenic 0 -217147 Simple 376107921 A . Pathogenic 2 5 Limb-girdle muscular dystrophy, type 2A;not provided 2017-05-08 28.2 1.4 Pathogenic 0 -217149 Simple 863224956 A . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2016-09-18 16.8 1.6666666666666667 Pathogenic 0 -217150 Simple 863224957 T . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;not provided 2016-09-19 16.8 1.6666666666666667 Pathogenic 0 -217152 Simple 863224959 T . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2015-10-05 14.4 3.0 Pathogenic/Likely pathogenic 1 -217154 Simple 863224961 T . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2015-09-15 15.0 2.6666666666666665 Pathogenic 0 -217159 Simple 863224965 . . Pathogenic/Likely pathogenic 2 5 Limb-girdle muscular dystrophy, type 2A;not provided 2017-10-30 20.4 1.0 Pathogenic 1 -217160 Simple 863224966 CTT . Pathogenic 2 4 Limb-girdle muscular dystrophy, type 2A;not provided 2017-03-24 20.400000000000002 2.25 Pathogenic 0 -217163 Simple 863224969 T . Likely pathogenic 2 2 Charcot-Marie-Tooth disease, type 2A2A;not provided 2017-01-31 5.7 1.5 Likely pathogenic 0 -217164 Simple 863224970 G . Pathogenic 2 2 Charcot-Marie-Tooth disease, type 2A2A;not provided 2016-05-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -217165 Simple 773159585 T . Pathogenic/Likely pathogenic 2 3 Charcot-Marie-Tooth disease, type 2A2A;Charcot-Marie-Tooth disease, type 2;Distal muscle weakness;Peripheral axonal neuropathy;Distal lower limb amyotrophy 2016-07-13 9.0 3.0 Pathogenic/Likely pathogenic 0 -217166 Simple 863224971 T . Pathogenic 2 2 X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X 2017-06-29 10.2 2.0 Pathogenic/Likely pathogenic 1 -217169 Simple 863224974 A . Pathogenic 2 3 X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X;not provided 2017-06-05 16.2 1.6666666666666667 Pathogenic 0 -217170 Simple 139643362 T . Pathogenic 2 2 X-linked hereditary motor and sensory neuropathy;not provided 2016-07-29 9.6 3.0 Pathogenic/Likely pathogenic 1 -217184 Simple 863224986 A . Pathogenic 2 2 Duchenne muscular dystrophy 2017-02-15 10.2 2.5 Pathogenic/Likely pathogenic 1 -217188 Simple 756949497 A . Pathogenic 2 2 Duchenne muscular dystrophy 2016-05-13 10.2 2.5 Pathogenic/Likely pathogenic 1 -217197 Simple 863224997 A . Pathogenic/Likely pathogenic 2 3 Duchenne muscular dystrophy;not specified 2017-06-21 12.6 1.6666666666666667 Pathogenic/Likely pathogenic 0 -217199 Simple 863224999 A . Pathogenic 2 3 Duchenne muscular dystrophy;not provided 2017-04-18 16.8 1.3333333333333333 Pathogenic 0 -217202 Simple 777864641 A . Pathogenic 2 2 Duchenne muscular dystrophy;not specified 2017-02-21 9.6 3.0 Pathogenic/Likely pathogenic 1 -217204 Simple 863225003 - . Pathogenic 2 3 Becker muscular dystrophy;Duchenne muscular dystrophy 2016-07-28 16.2 2.0 Pathogenic 0 -217207 Simple 863225006 - . Pathogenic 2 2 Duchenne muscular dystrophy;not specified 2016-11-16 10.2 2.5 Pathogenic/Likely pathogenic 1 -217208 Simple 863225007 TT . Pathogenic 2 5 Becker muscular dystrophy;Duchenne muscular dystrophy;not provided 2017-04-18 27.6 1.6 Pathogenic 0 -217213 Simple 863225011 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy 2017-05-30 21.6 1.75 Pathogenic 0 -217217 Simple 863225015 - . Pathogenic 2 2 Duchenne muscular dystrophy;not provided 2017-05-15 11.4 1.0 Pathogenic/Likely pathogenic 1 -217222 Simple 863225020 AA . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided 2016-06-20 21.6 2.0 Pathogenic 0 -217223 Simple 746873768 T . Pathogenic 2 6 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy;not provided 2017-05-02 31.8 2.0 Pathogenic 0 -217224 Simple 201049092 C . Pathogenic/Likely pathogenic 2 2 Limb-girdle muscular dystrophy, type 2B 2016-06-02 8.7 1.5 Pathogenic/Likely pathogenic 0 -217225 Simple 369607332 T . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy;not provided 2017-07-18 17.4 0.6666666666666666 Pathogenic 0 -217226 Simple 863224867 - . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B 2015-11-10 19.8 2.75 Pathogenic 0 -217227 Simple 863225021 T . Pathogenic/Likely pathogenic 2 5 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy 2017-05-23 21.900000000000002 1.6 Pathogenic 1 -217230 Simple 863225022 T . Pathogenic/Likely pathogenic 2 2 Charcot-Marie-Tooth disease type 2F;not provided 2016-02-03 8.100000000000001 2.0 Likely pathogenic 1 -217231 Simple 863225023 T . Pathogenic/Likely pathogenic 2 3 Charcot-Marie-Tooth disease type 2F;not provided 2017-06-07 13.5 1.6666666666666667 Pathogenic/Likely pathogenic 0 -217232 Simple 371856018 G . Pathogenic 2 4 Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I;not provided 2017-05-15 23.4 0.75 Pathogenic 0 -217235 Simple 770546306 C . Pathogenic 2 2 Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I 2017-05-03 11.4 1.0 Pathogenic/Likely pathogenic 1 -217239 Simple 754521978 - . Pathogenic 2 4 Dejerine-Sottas disease;Charcot-Marie-Tooth disease, demyelinating, type 4f;not provided 2016-02-10 20.4 2.5 Pathogenic 0 -217269 Simple 72547551 T . Pathogenic/Likely pathogenic 2 2 Spastic paraplegia 7;not provided 2017-07-31 9.0 0.5 Pathogenic/Likely pathogenic 0 -217270 Simple 748309520 A . Pathogenic 2 2 Spastic paraplegia 7 2017-04-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -217323 Simple 138140155 G . Benign/Likely benign 2 3 Cataract 1;not specified;Congenital cataract;Zonular Pulverulent Cataract 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -217450 Simple 780594709 T . Pathogenic/Likely pathogenic 2 4 Spinal muscular atrophy, distal, autosomal recessive, 1;not provided;Charcot-Marie-Tooth disease, axonal, type 2S 2017-10-05 17.4 1.25 Pathogenic 1 -217467 Simple 863225100 T . Likely pathogenic 2 1 Familial hypertrophic cardiomyopathy 1;not provided 2015-08-06 . 2.0 . 0 -217523 Simple 777668842 A . Pathogenic 2 3 Joubert syndrome;Joubert syndrome 3;not provided 2015-09-07 15.600000000000001 2.3333333333333335 Pathogenic 0 -217525 Simple 372659908 A . Pathogenic 2 2 Joubert syndrome 3;not provided 2015-06-08 10.2 2.5 Pathogenic/Likely pathogenic 1 -217530 Simple 863225134 C . Pathogenic/Likely pathogenic 2 2 Joubert syndrome 3;not provided 2016-02-10 7.5 2.5 Likely pathogenic 1 -217533 Simple 863225136 ACAC . Pathogenic 2 2 Joubert syndrome 3;not provided 2015-10-16 10.2 2.5 Pathogenic/Likely pathogenic 1 -217548 Simple 863225147 A . Pathogenic/Likely pathogenic 2 2 Joubert syndrome 3;not provided 2015-12-03 7.5 2.5 Likely pathogenic 1 -217567 Simple 863225155 A . Pathogenic/Likely pathogenic 2 2 Joubert syndrome 17;not provided 2017-09-01 7.8 1.5 Likely pathogenic 1 -217569 Simple 374144275 A . Pathogenic 2 2 Joubert syndrome 17;not provided 2017-01-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -217570 Simple 775263897 TT . Pathogenic 2 2 Joubert syndrome 17;Jaundice;Global developmental delay 2015-02-23 9.0 3.5 Pathogenic/Likely pathogenic 1 -217571 Simple 141507441 A . Pathogenic 2 2 Joubert syndrome 17;not provided 2017-10-25 10.8 1.5 Pathogenic/Likely pathogenic 1 -217575 Simple 749523755 T . Pathogenic 2 3 Joubert syndrome 17;not provided;Jaundice;Global developmental delay 2017-10-05 15.0 2.3333333333333335 Pathogenic 0 -217580 Simple 530569572 C . Pathogenic 2 2 Joubert syndrome 17;not provided 2017-10-04 10.8 1.5 Pathogenic/Likely pathogenic 1 -217584 Simple 863225163 A . Pathogenic 2 2 Joubert syndrome 17;not provided 2016-05-31 10.8 2.0 Pathogenic/Likely pathogenic 1 -217590 Simple 777686211 - . Pathogenic 2 5 Joubert syndrome 17;not provided;Jaundice;Global developmental delay 2017-07-03 26.4 1.8 Pathogenic 0 -217591 Simple 141153181 A . Pathogenic 2 2 Joubert syndrome 17;not provided 2017-07-03 10.8 1.5 Pathogenic/Likely pathogenic 1 -217602 Simple 370880399 T . Pathogenic 2 2 Joubert syndrome 9;not provided 2017-04-07 10.8 1.5 Pathogenic/Likely pathogenic 1 -217618 Simple 781252161 T . Pathogenic 2 2 Joubert syndrome;Meckel-Gruber syndrome;Joubert syndrome 9 2016-06-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -217621 Simple 771454167 - . Pathogenic 2 3 Joubert syndrome 5;Bardet-Biedl syndrome 14;not provided 2017-01-03 16.2 2.0 Pathogenic 0 -217626 Simple 539400286 A . Pathogenic 2 2 Meckel syndrome type 4;Joubert syndrome 5 2016-01-04 10.2 2.5 Pathogenic/Likely pathogenic 1 -217630 Simple 863225185 C . Pathogenic 2 2 Meckel syndrome type 4;Joubert syndrome 5 2017-05-24 10.8 1.5 Pathogenic/Likely pathogenic 1 -217632 Simple 756302731 - . Pathogenic 2 2 Joubert syndrome;Meckel-Gruber syndrome;Joubert syndrome 5;Nephronophthisis 2017-02-28 10.8 2.0 Pathogenic/Likely pathogenic 1 -217635 Simple 376493409 A . Pathogenic 2 3 Joubert syndrome 5;not provided;Blindness;Global developmental delay 2017-05-02 16.2 1.6666666666666667 Pathogenic 0 -217639 Simple 749439750 A . Pathogenic 2 2 Joubert syndrome 5;not provided 2017-10-13 10.8 1.5 Pathogenic/Likely pathogenic 1 -217646 Simple 374703898 T . Pathogenic/Likely pathogenic 2 2 not provided;Joubert syndrome 21 2017-04-05 7.8 1.5 Likely pathogenic 1 -217672 Simple 773684291 A . Pathogenic/Likely pathogenic 2 2 Joubert syndrome;not provided 2016-09-01 7.8 2.0 Likely pathogenic 1 -217677 Simple 754279998 - . Pathogenic 2 2 Joubert syndrome;Global developmental delay;Rotary nystagmus;Limb undergrowth;Polydactyly;Chronic kidney disease;Joubert syndrome 28 2016-09-23 10.2 2.5 Pathogenic/Likely pathogenic 1 -217686 Simple 863225212 T . Pathogenic 2 2 Joubert syndrome 10;not provided 2016-07-19 10.8 2.0 Pathogenic/Likely pathogenic 1 -217704 Simple 755459875 G . Pathogenic/Likely pathogenic 2 2 Joubert syndrome 2;not provided 2017-01-19 7.8 2.0 Likely pathogenic 1 -217714 Simple 772437766 G . Pathogenic 2 2 Joubert syndrome 6;not provided 2015-09-17 10.2 2.5 Pathogenic/Likely pathogenic 1 -217725 Simple 752362727 T . Pathogenic/Likely pathogenic 2 2 Joubert syndrome 6;Oligohydramnios;Renal cyst;Agenesis of cerebellar vermis 2015-02-23 7.199999999999999 3.0 Likely pathogenic 1 -217726 Simple 863225235 A . Pathogenic/Likely pathogenic 2 2 Joubert syndrome 6;not provided 2016-09-29 7.8 2.0 Likely pathogenic 1 -217828 Simple 762580653 G . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 1;Myofibrillar myopathy, ZASP-related 2017-04-04 -0.5700000000000001 1.0 Uncertain significance 0 -217837 Simple 774172488 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -217917 Simple 746872839 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -217920 Simple 756336949 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -0.8999999999999999 0.0 Uncertain significance 0 -217924 Simple 863225311 G . Pathogenic/Likely pathogenic 2 5 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-08-09 17.7 0.8 Pathogenic 1 -217927 Simple 863225313 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-12 12.0 0.0 Pathogenic/Likely pathogenic 1 -217935 Simple 863225318 A . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 11.4 1.5 Pathogenic/Likely pathogenic 1 -217940 Simple 863225322 - . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2017-03-10 11.4 1.0 Pathogenic/Likely pathogenic 1 -217954 Simple 863225332 AA . Pathogenic/Likely pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-08 14.7 1.0 Pathogenic/Likely pathogenic 0 -217957 Simple 376213437 G . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-14 12.0 0.5 Pathogenic/Likely pathogenic 1 -217970 Simple 863225345 AA . Likely pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2016-05-20 6.0 1.0 Likely pathogenic 0 -217972 Simple 863225347 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2016-12-27 16.2 2.0 Pathogenic 0 -217982 Simple 863225354 - . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-04-10 -0.6 0.5 Uncertain significance 0 -217990 Simple 863225361 TT . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-06 12.0 0.5 Pathogenic/Likely pathogenic 0 -217991 Simple 863225362 T . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided;Familial adenomatous polyposis 2017-07-18 10.2 2.0 Pathogenic/Likely pathogenic 1 -217992 Simple 863225363 - . Pathogenic/Likely pathogenic 2 2 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-05 12.0 0.5 Pathogenic/Likely pathogenic 0 -218000 Simple 863225370 A . Pathogenic/Likely pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2017-04-27 5.7 1.0 Likely pathogenic 1 -218001 Simple 2909961 T . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -218010 Simple 539108537 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -218018 Simple 863225378 ATCTGGACC . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-30 17.4 1.0 Pathogenic 0 -218021 Simple 63751465 T . Uncertain significance 1 1 Lynch syndrome;not specified 2016-07-13 . 1.0 . 0 -218032 Simple 267607953 C . Pathogenic/Likely pathogenic 2 5 Lynch syndrome I;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-31 24.0 0.8 Pathogenic 1 -218040 Simple 759263820 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-12 -1.2 0.25 Uncertain significance 0 -218044 Simple 863225394 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-13 18.0 0.6666666666666666 Pathogenic 0 -218051 Simple 863225398 AA . Pathogenic/Likely pathogenic 2 4 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 24.0 0.5 Pathogenic 1 -218055 Simple 863225402 C . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 6.0 0.0 Likely pathogenic 1 -218060 Simple 863225406 - . Pathogenic/Likely pathogenic 2 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-21 17.4 1.3333333333333333 Pathogenic 1 -218061 Simple 587782562 ATGAATGA . Pathogenic 2 2 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -218062 Simple 863225408 - . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-16 17.4 1.0 Pathogenic 1 -218262 Simple 879253810 A . Pathogenic/Likely pathogenic 2 2 Propionic acidemia 2016-08-22 7.2 2.5 Likely pathogenic 1 -218278 Simple 863225466 - . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not specified;not provided 2017-03-16 14.7 1.0 Pathogenic/Likely pathogenic 0 -218279 Simple 863225467 CT . Pathogenic 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2016-01-27 10.8 2.0 Pathogenic/Likely pathogenic 1 -218297 Simple 779694939 G . Pathogenic/Likely pathogenic 2 4 Inclusion body myopathy 2;Nonaka myopathy;not provided 2017-03-09 20.4 1.0 Pathogenic 1 -218308 Simple 864309504 A . Pathogenic 2 2 not provided;Charcot-Marie-Tooth disease, axonal, type 2z 2017-07-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -218324 Simple 376128990 A . Pathogenic 2 2 Methylmalonic aciduria cblB type;not provided 2016-10-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -218330 Simple 2229616 T . Conflicting interpretations of pathogenicity, protective 1 2 Obesity;Monogenic diabetes 2016-06-14 -5.7 1.5 Likely benign 2 -218422 Simple 201774661 C . Likely benign 2 2 Adrenoleukodystrophy;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -218426 Simple 35998949 C . Benign/Likely benign 2 3 Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-06-01 -11.4 1.3333333333333333 Benign/Likely benign 0 -218427 Simple 371897078 A . Pathogenic/Likely pathogenic 2 3 Fanconi anemia;Fanconi anemia, complementation group C;not provided 2017-05-16 14.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -218430 Simple 3027584 T . Benign/Likely benign 2 3 Fabry disease 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -218431 Simple 587779930 T . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2017-08-07 -1.17 1.0 Uncertain significance 0 -218433 Simple 114186001 A . Benign/Likely benign 2 4 Long QT syndrome 2;Long QT syndrome;Cardiovascular phenotype 2017-08-17 -17.1 1.25 Benign/Likely benign 0 -218438 Simple 56139994 T . Benign/Likely benign 2 8 Foveal hypoplasia and presenile cataract syndrome;Keratitis, hereditary;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;Anophthalmia;Aniridia;Peters anomaly;Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 -26.4 1.125 Benign 1 -218440 Simple 186091357 G . Likely benign 2 3 Hyperthyroidism, nonautoimmune;Congenital hypothyroidism;not specified 2016-06-14 -8.4 1.6666666666666667 Benign/Likely benign 1 -218445 Simple 200261177 T . Uncertain significance 2 3 Familial hypobetalipoproteinemia;Familial hypercholesterolemia 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -218447 Simple 1801699 C . Benign/Likely benign 2 8 Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1 2017-08-22 -34.2 1.25 Benign 1 -218459 Simple 75029862 A . Benign/Likely benign 2 4 Deficiency of alpha-mannosidase;not specified;not provided 2016-06-14 -18.6 2.0 Benign/Likely benign 0 -218468 Simple 57344541 A . Benign/Likely benign 2 2 Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency;not specified 2017-06-23 -8.7 1.0 Benign/Likely benign 0 -218487 Simple 114289907 G . Benign 2 1 Catecholaminergic polymorphic ventricular tachycardia type 1;not specified 2015-03-06 . 2.0 . 0 -218507 Simple 774952444 T . Uncertain significance 2 6 Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -1.77 0.5 Uncertain significance 0 -218509 Simple 80248061 G . Benign/Likely benign 2 2 Townes-Brocks syndrome 1;not specified 2016-06-14 -8.7 1.5 Benign/Likely benign 0 -218510 Simple 74499562 C . Benign/Likely benign 2 3 Townes-Brocks syndrome 1;not specified;Townes syndrome 2017-06-20 -13.8 1.3333333333333333 Benign/Likely benign 0 -218516 Simple 61729303 A . Likely benign 2 2 not specified;not provided 2016-06-29 -5.7 1.5 Likely benign 0 -218523 Simple 145314043 T . Uncertain significance 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -218527 Simple 370737647 - . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -218531 Simple 41291734 T . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-07-31 -13.8 1.0 Benign/Likely benign 0 -218539 Simple 373304582 - . Benign/Likely benign 2 4 not specified 2017-04-07 -19.8 1.25 Benign/Likely benign 0 -218545 Simple 138801821 A . Benign/Likely benign 2 3 Brachydactyly;not specified 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -218547 Simple 183141566 T . Uncertain significance 2 2 not specified 2017-06-02 -0.5700000000000001 1.0 Uncertain significance 0 -218548 Simple 41311573 T . Benign/Likely benign 2 6 not specified;not provided;Familial cold autoinflammatory syndrome;Cryopyrin associated periodic syndrome 2017-07-25 -31.8 1.0 Benign 1 -218550 Simple 10693712 CAC . Benign 2 3 Primary ciliary dyskinesia;not specified 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -218562 Simple 202035484 A . Benign/Likely benign 2 6 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -23.4 0.6666666666666666 Benign/Likely benign 0 -218569 Simple 560537668 G . Uncertain significance 2 5 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-12 -1.44 1.2 Uncertain significance 0 -218577 Simple 149430473 C . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -218578 Simple 112637437 T . Benign 2 2 Genetic prion diseases;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -218579 Simple 148860986 A . Uncertain significance 2 2 not specified 2016-11-22 -0.5700000000000001 1.5 Uncertain significance 0 -218580 Simple 72913293 C . Benign 2 3 not specified;not provided;Epileptic encephalopathy, early infantile, 23 2017-08-01 -16.8 1.3333333333333333 Benign/Likely benign 1 -218581 Simple 146276662 C . Uncertain significance 2 3 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-04-09 -0.87 1.0 Uncertain significance 0 -218585 Simple 183470913 A . Uncertain significance 2 2 not specified 2016-03-31 -0.54 2.0 Uncertain significance 0 -218601 Simple 372606274 A . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular cardiomyopathy;Cardiovascular phenotype 2017-03-31 -0.87 1.0 Uncertain significance 0 -218603 Simple 148095551 G . Uncertain significance 2 4 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-09-20 -1.17 0.75 Uncertain significance 0 -218605 Simple 148541545 T . Uncertain significance 2 2 not specified 2017-07-07 -0.5700000000000001 1.0 Uncertain significance 0 -218610 Simple 864309578 A . Uncertain significance 2 2 not specified 2015-07-10 -0.54 2.0 Uncertain significance 0 -218613 Simple 140512665 G . Uncertain significance 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -218615 Simple 778190998 C . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2016-10-30 -0.5700000000000001 1.5 Uncertain significance 0 -218623 Simple 560217758 G . Uncertain significance 2 2 Rhizomelic chondrodysplasia punctata;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -218634 Simple 759982048 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;not specified 2015-09-24 -0.51 2.5 Uncertain significance 0 -218636 Simple 753033333 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;not specified 2015-12-03 -0.54 2.0 Uncertain significance 0 -218675 Simple 199635059 G . Benign/Likely benign 2 3 Creatine deficiency, X-linked;not specified 2017-05-25 -11.7 0.6666666666666666 Benign/Likely benign 0 -218681 Simple 114933392 T . Benign 2 3 Congenital disorder of glycosylation type 2B;not specified 2017-01-11 -16.8 1.6666666666666667 Benign/Likely benign 1 -218686 Simple 143286419 A . Likely benign 2 3 Spastic paraplegia 47, autosomal recessive;not specified 2017-07-28 -8.7 0.6666666666666666 Benign/Likely benign 1 -218688 Simple 139339184 A . Benign/Likely benign 2 3 Floating-Harbor syndrome;not specified;not provided 2017-01-10 -11.4 1.3333333333333333 Benign/Likely benign 0 -218689 Simple 150246733 G . Benign/Likely benign 2 3 Floating-Harbor syndrome;not specified;not provided 2017-05-24 -11.4 1.0 Benign/Likely benign 0 -218696 Simple 181583071 T . Uncertain significance 2 2 not specified 2017-06-22 -0.54 1.5 Uncertain significance 0 -218701 Simple 142204796 A . Benign 2 2 CHARGE association;not specified 2017-06-15 -11.4 1.0 Benign/Likely benign 1 -218710 Simple 141234822 G . Uncertain significance 2 2 not specified 2017-01-05 -0.5700000000000001 1.5 Uncertain significance 0 -218716 Simple 138028425 T . Uncertain significance 2 2 not specified 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -218718 Simple 9827689 T . Benign 2 3 not specified 2016-05-03 -15.6 2.3333333333333335 Benign/Likely benign 1 -218734 Simple 141361080 T . Benign/Likely benign 2 5 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified;not provided 2017-08-10 -23.4 0.8 Benign/Likely benign 0 -218736 Simple 72609545 T . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -218739 Simple 62636611 G . Likely benign 2 2 not specified;not provided 2017-01-09 -5.7 1.5 Likely benign 0 -218740 Simple 55679040 C . Likely benign 2 2 not specified 2016-08-09 -5.7 1.5 Likely benign 0 -218743 Simple 201771125 T . Uncertain significance 2 2 not specified 2015-10-20 -0.51 2.5 Uncertain significance 0 -218747 Simple 77410280 A . Benign 2 2 Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2;not specified 2017-07-27 -11.4 1.0 Benign/Likely benign 1 -218759 Simple 201886877 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -218769 Simple 864309612 GTTGCTGTTGCT . Uncertain significance 2 2 not specified 2015-07-10 -0.54 2.0 Uncertain significance 0 -218780 Simple 61746943 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-07-30 -14.4 1.0 Benign/Likely benign 0 -218795 Simple 864309621 - . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -218802 Simple 199826787 C . Uncertain significance 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified 2016-06-14 -1.74 1.3333333333333333 Uncertain significance 0 -218819 Simple 373305585 T . Benign 2 3 not specified;Hyperphosphatasia with mental retardation syndrome 2 2017-05-24 -17.4 1.0 Benign/Likely benign 1 -218826 Simple 143232904 C . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -218849 Simple 146482048 G . Uncertain significance 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -218850 Simple 35485382 A . Benign/Likely benign 2 7 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified;not provided 2017-07-28 -29.1 1.1428571428571428 Benign 1 -218854 Simple 62621664 T . Benign 2 3 Succinate-semialdehyde dehydrogenase deficiency;not specified 2017-08-11 -16.8 1.3333333333333333 Benign/Likely benign 1 -218858 Simple 200756305 G . Uncertain significance 2 2 Multiple congenital anomalies-hypotonia-seizures syndrome 1;not specified 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -218935 Simple 864309711 T . Pathogenic/Likely pathogenic 2 1 Infantile myofibromatosis 1;Infantile myofibromatosis 2017-02-01 . 1.0 . 0 -218950 Simple 864309721 G . Pathogenic/Likely pathogenic 2 2 not provided;Takenouchi-Kosaki syndrome 2017-12-11 9.0 0.5 Pathogenic/Likely pathogenic 0 -218969 Simple 765799472 T . Pathogenic 2 2 Methylmalonic aciduria cblA type;not provided 2017-06-21 12.0 0.0 Pathogenic/Likely pathogenic 1 -218989 Simple 772552898 A . Pathogenic 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided 2017-03-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -218998 Simple 779990936 A . Pathogenic 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-08-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -219003 Simple 36013132 TT . Benign/Likely benign 2 2 Methylmalonic aciduria cblB type;not specified 2017-08-04 -8.7 1.0 Benign/Likely benign 0 -219097 Simple 121913237 G . Pathogenic/Likely pathogenic 2 1 Malignant melanoma of skin;Multiple myeloma;Non-small cell lung cancer;Acute myeloid leukemia;Myelodysplastic syndrome;not provided;Malignant melanoma;Myelodysplastic syndrome progressed to acute myeloid leukemia;Colorectal Neoplasms;Adenocarcinoma of stomach;Malignant neoplasm of body of uterus 2017-02-01 . 1.0 . 0 -219235 Simple 864321707 A . Pathogenic/Likely pathogenic 2 1 Early infantile epileptic encephalopathy 7;Early infantile epileptic encephalopathy 2017-05-16 . 0.0 . 0 -219290 Simple 63750059 C . Likely pathogenic 3 2 Lynch syndrome I;not provided 2015-11-24 5.970000000000001 1.0 Likely pathogenic 0 -219291 Simple 786203413 C . Uncertain significance 3 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2015-11-24 -0.597 1.0 Uncertain significance 0 -219292 Simple 267607900 G . Pathogenic 3 1 Lynch syndrome I 2015-11-24 . 2.0 . 0 -219293 Simple . . . Pathogenic 3 1 Lynch syndrome I 2015-11-24 . 2.0 . 0 -219294 Simple 864622041 C . Pathogenic 3 3 Lynch syndrome I;Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-11-24 8.64 1.0 Pathogenic/Likely pathogenic 1 -219295 Simple 864622042 - . Uncertain significance 3 1 Lynch syndrome I 2015-11-24 . 2.0 . 0 -219364 Simple 864622051 A . Pathogenic/Likely pathogenic 2 2 Alpha-1-antitrypsin deficiency 2016-03-08 8.4 1.5 Pathogenic/Likely pathogenic 0 -219384 Simple 537303950 A . Uncertain significance 2 2 not provided;Spastic paraplegia 2017-06-30 -0.6 0.5 Uncertain significance 0 -219388 Simple 148634904 G . Uncertain significance 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2017-07-31 -1.2 0.75 Uncertain significance 0 -219389 Simple 864622065 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -219393 Simple 377612647 T . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-03-08 -5.7 1.0 Likely benign 0 -219395 Simple 185301166 A . Benign/Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -219396 Simple 371731991 C . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -219401 Simple 78515732 G . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;Cardiovascular phenotype 2017-07-28 -18.0 0.75 Benign/Likely benign 0 -219405 Simple 199624091 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-07-03 -12.0 0.3333333333333333 Benign/Likely benign 0 -219406 Simple 864622073 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 22.8 1.75 Pathogenic 0 -219410 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2015-10-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -219413 Simple 372660425 C . Pathogenic 2 2 Pyridoxine-dependent epilepsy;not provided 2017-04-05 11.4 1.0 Pathogenic/Likely pathogenic 1 -219414 Simple 79464415 G . Benign 2 2 not specified;Spastic paraplegia 2017-06-19 -11.4 1.0 Benign/Likely benign 1 -219415 Simple 139806812 A . Benign/Likely benign 2 3 Spastic paraplegia 31, autosomal dominant;not specified;Spastic Paraplegia, Dominant 2017-08-01 -12.0 0.3333333333333333 Benign/Likely benign 0 -219417 Simple 759601398 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -219418 Simple 864622077 C . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-04-21 -6.0 0.5 Likely benign 0 -219420 Simple 864622079 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-22 -0.8999999999999999 0.0 Uncertain significance 0 -219423 Simple 864622080 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -219424 Simple 368685980 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.5 Uncertain significance 0 -219425 Simple 864622081 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-04 -9.0 0.6666666666666666 Benign/Likely benign 1 -219426 Simple 864622082 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -219430 Simple 864622084 T . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-07-14 -5.7 1.0 Likely benign 0 -219431 Simple 769076258 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -1.2 0.25 Uncertain significance 0 -219432 Simple 864622085 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-07 -0.5700000000000001 1.5 Uncertain significance 0 -219433 Simple 369052148 G . Likely benign 2 1 Fanconi anemia;not specified 2015-07-06 . 2.0 . 0 -219435 Simple 147433258 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-18 -5.4 1.5 Likely benign 0 -219437 Simple 535344579 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-03 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -219440 Simple 864622090 A . Likely pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-14 5.7 1.0 Likely pathogenic 0 -219443 Simple 540108477 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-05-24 -0.6 1.0 Uncertain significance 0 -219444 Simple 761507504 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified 2015-09-28 -0.54 2.0 Uncertain significance 0 -219447 Simple 147331514 A . Likely benign 2 3 Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-12-04 -9.0 0.3333333333333333 Benign/Likely benign 1 -219451 Simple 545015076 G . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-09-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219458 Simple 779627397 A . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-30 -9.0 0.6666666666666666 Benign/Likely benign 1 -219459 Simple 374380039 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-07-19 -0.5700000000000001 1.5 Uncertain significance 0 -219462 Simple 769872474 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.5 Uncertain significance 0 -219463 Simple 864622103 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-06 -6.0 1.0 Likely benign 0 -219464 Simple 864622104 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -0.81 1.6666666666666667 Uncertain significance 0 -219470 Simple 778846471 T . Likely benign 2 2 Von Hippel-Lindau syndrome;not specified 2016-11-15 -5.7 1.5 Likely benign 0 -219472 Simple 864622109 T . Likely benign 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -219474 Simple 762674380 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-13 -0.5700000000000001 1.5 Uncertain significance 0 -219477 Simple 189432084 G . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-07-19 -0.6 0.5 Uncertain significance 0 -219478 Simple 864622111 G . Likely pathogenic 2 2 Jeune thoracic dystrophy;not provided 2016-09-09 5.7 1.5 Likely pathogenic 0 -219480 Simple 146054765 A . Uncertain significance 2 4 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis 2016-06-14 -1.17 1.25 Uncertain significance 0 -219481 Simple 75762896 G . Benign/Likely benign 2 2 Polycystic kidney disease, autosomal dominant;not specified 2017-06-21 -11.4 1.0 Benign/Likely benign 0 -219486 Simple 777814445 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -219490 Simple 776085424 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-06 -0.5700000000000001 1.0 Uncertain significance 0 -219492 Simple 864622117 C . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-07-10 -6.0 0.5 Likely benign 0 -219493 Simple 864622118 C . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-10-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219495 Simple 759379314 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-16 -5.7 1.0 Likely benign 0 -219496 Simple 754611265 TT . Pathogenic 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 30.0 1.0 Pathogenic 0 -219501 Simple 864622123 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-26 -0.5700000000000001 1.0 Uncertain significance 0 -219504 Simple 375185293 A . Uncertain significance 2 2 Juvenile polyposis syndrome 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -219505 Simple 864622126 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-06-01 -0.54 2.0 Uncertain significance 0 -219508 Simple 864622129 A . Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-19 10.8 2.0 Pathogenic/Likely pathogenic 1 -219511 Simple 864622132 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -219513 Simple 760246803 A . Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2015-09-04 -5.4 2.0 Likely benign 0 -219514 Simple 864622134 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -219515 Simple 864622135 G . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-15 -6.0 0.5 Likely benign 0 -219521 Simple 754388534 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -0.8999999999999999 0.0 Uncertain significance 0 -219524 Simple 11920543 A . Benign/Likely benign 2 2 Renal dysplasia and retinal aplasia;Nephronophthisis 2017-05-29 -9.0 0.5 Benign/Likely benign 0 -219526 Simple 864622141 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -8.4 1.0 Benign/Likely benign 1 -219527 Simple 778382252 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-09-08 -0.6 0.0 Uncertain significance 0 -219529 Simple 369223840 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -1.5 0.2 Uncertain significance 0 -219530 Simple 780097986 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-07-06 -0.6 0.0 Uncertain significance 0 -219533 Simple 864622143 A . Pathogenic 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-08-08 16.8 1.6666666666666667 Pathogenic 0 -219534 Simple 758889557 T . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.17 1.0 Uncertain significance 0 -219535 Simple 202199891 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.2 0.25 Uncertain significance 0 -219536 Simple 864622144 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -219539 Simple 760559435 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-20 -0.6 1.0 Uncertain significance 0 -219540 Simple 864622146 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -219542 Simple 864622148 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-09-28 -0.54 2.0 Uncertain significance 0 -219543 Simple 864622149 G . Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-19 11.7 0.5 Pathogenic/Likely pathogenic 1 -219544 Simple 375246789 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -219546 Simple 200564603 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -0.81 1.6666666666666667 Uncertain significance 0 -219549 Simple 201366820 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-07-03 -12.0 0.3333333333333333 Benign/Likely benign 0 -219551 Simple 864622153 A . Pathogenic/Likely pathogenic 2 5 Hereditary nonpolyposis colorectal cancer type 5;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-15 27.0 0.2 Pathogenic 1 -219552 Simple 4988350 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -219555 Simple 864622155 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-06-02 -0.5700000000000001 1.5 Uncertain significance 0 -219556 Simple 375146450 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -1.2 0.25 Uncertain significance 0 -219559 Simple 117228915 A . Benign 2 2 not specified;Spastic paraplegia 2017-04-17 -12.0 0.5 Benign/Likely benign 1 -219560 Simple 61746722 T . Benign 2 2 not specified;Spastic paraplegia 2017-06-12 -12.0 0.5 Benign/Likely benign 1 -219563 Simple 80356881 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-11-20 -0.54 2.0 Uncertain significance 0 -219567 Simple 864622159 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -1.17 0.5 Uncertain significance 0 -219569 Simple 770386388 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -0.8999999999999999 0.0 Uncertain significance 0 -219570 Simple 762442338 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-22 -5.7 1.0 Likely benign 0 -219571 Simple 757286252 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-22 -5.7 1.0 Likely benign 0 -219573 Simple 139116481 A . Likely benign 2 2 Charcot-Marie-Tooth disease, type 1C;not specified 2017-07-10 -6.0 0.5 Likely benign 0 -219576 Simple 786202058 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -219577 Simple 863224616 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -219579 Simple 561002197 A . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -18.0 0.6 Benign/Likely benign 1 -219581 Simple 864622165 G . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-08-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219586 Simple 370393672 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.87 1.0 Uncertain significance 0 -219587 Simple 730881386 A . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-11 14.100000000000001 1.25 Pathogenic/Likely pathogenic 0 -219588 Simple 182494675 T . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -14.4 1.2 Benign/Likely benign 1 -219591 Simple 864622170 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-15 -6.0 1.0 Likely benign 0 -219592 Simple 864622171 T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-08-20 -6.0 1.0 Likely benign 0 -219594 Simple 745775382 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.5 Uncertain significance 0 -219600 Simple 864622175 A . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-01-20 -0.54 2.0 Uncertain significance 0 -219602 Simple 864622176 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -219604 Simple 749902808 A . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2015-07-24 -5.1 2.5 Likely benign 0 -219605 Simple 779447213 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-18 -0.6 1.0 Uncertain significance 0 -219608 Simple 864622179 A . Likely pathogenic 2 3 Spastic paraplegia 4, autosomal dominant;not provided 2017-05-10 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -219611 Simple 763958218 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-09-21 -5.7 1.5 Likely benign 0 -219612 Simple 376142390 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -0.8999999999999999 0.0 Uncertain significance 0 -219614 Simple 755851369 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-08-26 -8.7 1.3333333333333333 Benign/Likely benign 1 -219619 Simple 756398636 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219623 Simple 146968463 T . Uncertain significance 2 2 not specified;Spastic paraplegia 2017-02-01 -0.5700000000000001 1.5 Uncertain significance 0 -219624 Simple 768508859 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-04-17 -0.5700000000000001 1.0 Uncertain significance 0 -219627 Simple 864622183 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-12 11.4 1.0 Pathogenic/Likely pathogenic 1 -219629 Simple 864622185 G . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-10 14.4 0.6666666666666666 Pathogenic/Likely pathogenic 0 -219631 Simple 745929983 A . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -11.7 0.5 Benign/Likely benign 1 -219636 Simple 146598485 C . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-06-07 -14.4 1.0 Benign/Likely benign 0 -219640 Simple 3211612 T . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-23 -0.87 1.0 Uncertain significance 0 -219642 Simple 730881694 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-29 -0.8999999999999999 0.0 Uncertain significance 0 -219644 Simple 771034958 A . Uncertain significance 2 5 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.5 0.2 Uncertain significance 0 -219647 Simple 864622193 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219651 Simple 781121675 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219653 Simple 142036266 A . Uncertain significance 2 3 Primary ciliary dyskinesia;not specified 2016-11-03 -0.87 1.3333333333333333 Uncertain significance 0 -219654 Simple 771047560 G . Conflicting interpretations of pathogenicity 1 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-15 -3.57 1.3333333333333333 Uncertain significance 0 -219656 Simple 864622195 G . Likely benign 2 2 Lynch syndrome;not specified 2016-11-02 -5.7 1.5 Likely benign 0 -219662 Simple 864622198 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -219664 Simple 864622199 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.3 0.8 Benign/Likely benign 1 -219665 Simple 864622200 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -219668 Simple 748797209 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -1.2 0.5 Uncertain significance 0 -219669 Simple 760442763 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-24 -5.7 1.0 Likely benign 0 -219675 Simple 780865776 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-09 -0.5700000000000001 1.5 Uncertain significance 0 -219677 Simple 375885975 G . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-04 -6.0 0.5 Likely benign 0 -219679 Simple 150478207 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-04-25 -0.6 0.0 Uncertain significance 0 -219680 Simple 75925841 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -219681 Simple 864622206 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -219682 Simple 587782072 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-11-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219684 Simple 747060782 T . Uncertain significance 2 2 Fanconi anemia;not specified 2017-06-19 -0.6 0.5 Uncertain significance 0 -219685 Simple 375812189 A . Likely benign 2 2 Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2016-03-07 -5.7 1.5 Likely benign 0 -219686 Simple 745407845 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-23 -0.6 1.0 Uncertain significance 0 -219687 Simple 864622207 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -219689 Simple 138315079 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-02-09 -0.54 2.0 Uncertain significance 0 -219691 Simple 864622210 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -219695 Simple 375437307 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -8.7 0.6666666666666666 Benign/Likely benign 1 -219697 Simple 864622212 - . Pathogenic 2 2 Gorlin syndrome;not provided 2017-01-25 12.0 1.0 Pathogenic/Likely pathogenic 1 -219698 Simple 104895033 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -219700 Simple 864622214 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.6666666666666666 Benign/Likely benign 1 -219703 Simple 140788791 T . Likely benign 2 2 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified 2016-05-27 -5.7 1.5 Likely benign 0 -219705 Simple 779223727 T . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -219706 Simple 864622216 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-28 -0.5700000000000001 1.5 Uncertain significance 0 -219709 Simple 538173062 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -219710 Simple 188625702 T . Likely benign 2 3 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-01-30 -8.7 1.3333333333333333 Benign/Likely benign 1 -219713 Simple 864622219 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-10-03 -0.6 0.5 Uncertain significance 0 -219714 Simple 567226063 A . Likely benign 2 2 Fanconi anemia;not specified 2017-07-10 -6.0 0.0 Likely benign 0 -219715 Simple 749780872 A . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-05-23 -0.5700000000000001 1.5 Uncertain significance 0 -219716 Simple 864622220 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 9.3 1.5 Pathogenic/Likely pathogenic 1 -219717 Simple 766105286 T . Pathogenic/Likely pathogenic 2 2 Fanconi anemia;Fanconi anemia, complementation group C 2016-08-29 8.4 1.5 Pathogenic/Likely pathogenic 0 -219722 Simple 372932380 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-09 -6.0 1.0 Likely benign 0 -219726 Simple 864622223 - . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2016-08-29 20.1 1.5 Pathogenic 1 -219728 Simple 774878513 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-27 -0.6 0.5 Uncertain significance 0 -219729 Simple 202094399 C . Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -14.7 0.8 Benign/Likely benign 1 -219735 Simple 139327086 T . Uncertain significance 2 2 Jeune thoracic dystrophy;Nephronophthisis;not specified 2015-10-20 -0.54 2.0 Uncertain significance 0 -219740 Simple 267607744 A . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary nonpolyposis colon cancer 2017-09-11 12.0 0.3333333333333333 Pathogenic/Likely pathogenic 0 -219741 Simple 146162276 G . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified 2016-12-15 -11.7 1.3333333333333333 Benign/Likely benign 0 -219742 Simple 183557525 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -1.17 1.0 Uncertain significance 0 -219743 Simple 864622228 - . Pathogenic 2 3 Desmoid disease, hereditary;Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-12 16.8 1.6666666666666667 Pathogenic 0 -219744 Simple 564238520 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-30 -11.7 1.25 Benign/Likely benign 1 -219746 Simple 201793499 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-11-30 -0.5700000000000001 1.0 Uncertain significance 0 -219752 Simple 149277003 C . Pathogenic 2 2 Fanconi anemia;not provided 2017-07-17 12.0 0.5 Pathogenic/Likely pathogenic 1 -219757 Simple 750651726 C . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -16.8 1.5 Benign/Likely benign 1 -219764 Simple 864622240 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-13 -0.5700000000000001 1.5 Uncertain significance 0 -219766 Simple 56173868 T . Benign/Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2015-08-14 -8.100000000000001 2.0 Likely benign 1 -219767 Simple 750815208 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -219769 Simple 561295443 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-12-28 -0.6 1.0 Uncertain significance 0 -219770 Simple 150121265 A . Likely benign 2 1 not specified;Hereditary hemochromatosis 2017-07-05 . 0.0 . 0 -219772 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-01-10 11.4 1.5 Pathogenic/Likely pathogenic 1 -219779 Simple 374293292 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -219783 Simple 864622249 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-08-08 -0.54 2.0 Uncertain significance 0 -219789 Simple 864622253 - . Pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2015-08-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -219792 Simple 864622255 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-02-19 -0.54 2.0 Uncertain significance 0 -219793 Simple 864622256 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.1400000000000001 1.25 Uncertain significance 0 -219794 Simple 752038930 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-02-19 -0.54 2.0 Uncertain significance 0 -219796 Simple 759625762 A . Likely benign 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-01-17 -8.7 1.3333333333333333 Benign/Likely benign 1 -219797 Simple 143669846 A . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -219798 Simple 2233331 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-06-12 -14.4 1.0 Benign/Likely benign 0 -219800 Simple 77574155 T . Benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -219802 Simple 769310105 T . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-12-11 -5.7 1.5 Likely benign 0 -219804 Simple 864622260 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -1.1400000000000001 1.25 Uncertain significance 0 -219805 Simple 760541330 T . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -9.0 0.3333333333333333 Benign/Likely benign 1 -219808 Simple 398123230 T . Uncertain significance 2 2 Lynch syndrome;not specified 2017-01-09 -0.5700000000000001 1.5 Uncertain significance 0 -219809 Simple 769044421 A . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-25 -8.7 1.3333333333333333 Benign/Likely benign 1 -219813 Simple 756173890 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-28 -0.6 0.5 Uncertain significance 0 -219815 Simple 864622263 C . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-29 15.0 0.0 Pathogenic 1 -219820 Simple 775134484 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-14 -0.87 1.3333333333333333 Uncertain significance 0 -219821 Simple 45628136 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -219822 Simple 864622266 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -219827 Simple 864622269 T . Pathogenic 2 2 Spastic paraplegia 3;not provided 2017-06-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -219830 Simple 273901761 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -219832 Simple 774605759 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2016-12-13 -1.2 1.0 Uncertain significance 0 -219840 Simple 145264166 A . Benign/Likely benign 2 5 Spastic paraplegia 4, autosomal dominant;not specified;not provided;Spastic Paraplegia, Dominant 2017-08-04 -24.0 0.8 Benign 1 -219842 Simple 763571038 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-03-14 -0.6 0.5 Uncertain significance 0 -219844 Simple 864622273 T . Pathogenic/Likely pathogenic 2 2 Charcot-Marie-Tooth disease, type I;not provided 2016-10-28 8.4 1.5 Pathogenic/Likely pathogenic 0 -219845 Simple 34071623 G . Benign/Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-08-08 -30.0 0.75 Benign 1 -219846 Simple 186448384 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219847 Simple 864622274 C . Uncertain significance 2 4 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -1.17 1.0 Uncertain significance 0 -219850 Simple 864622277 G . Likely pathogenic 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-05 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -219852 Simple 377471435 A . Likely benign 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-21 -9.0 0.6666666666666666 Benign/Likely benign 1 -219853 Simple 864622278 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -0.8999999999999999 0.0 Uncertain significance 0 -219856 Simple 864622281 G . Likely benign 2 3 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-10 -8.7 1.0 Benign/Likely benign 1 -219857 Simple 863224783 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-29 -0.87 1.3333333333333333 Uncertain significance 0 -219858 Simple 761353033 T . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-01-13 -5.7 1.5 Likely benign 0 -219860 Simple 759419385 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -219864 Simple 864622285 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-26 -0.5700000000000001 1.5 Uncertain significance 0 -219865 Simple 761278503 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-12 -0.5700000000000001 1.5 Uncertain significance 0 -219867 Simple 763082717 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-05-06 -0.5700000000000001 1.5 Uncertain significance 0 -219868 Simple 779664343 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -219869 Simple 864622287 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -219870 Simple 864622288 G . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -8.7 0.6666666666666666 Benign/Likely benign 1 -219872 Simple 371731991 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-06-26 -0.6 1.0 Uncertain significance 0 -219873 Simple 864622290 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -219874 Simple 758026288 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-23 -5.7 1.0 Likely benign 0 -219876 Simple 766958451 T . Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -11.7 1.0 Benign/Likely benign 1 -219877 Simple 751356470 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.87 1.0 Uncertain significance 0 -219879 Simple 864622293 G . Pathogenic/Likely pathogenic 2 2 Gorlin syndrome;not provided 2015-08-17 8.100000000000001 2.0 Likely pathogenic 1 -219881 Simple 763593669 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-12 -1.2 0.5 Uncertain significance 0 -219885 Simple 745621828 G . Uncertain significance 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.87 0.6666666666666666 Uncertain significance 0 -219887 Simple 864622295 AA . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-08-14 -0.6 0.0 Uncertain significance 0 -219890 Simple 371149405 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219891 Simple 864622297 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-09-13 -5.4 2.0 Likely benign 0 -219892 Simple 864622298 T . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -8.1 1.6666666666666667 Likely benign 0 -219894 Simple 864622300 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-06-24 -0.5700000000000001 1.5 Uncertain significance 0 -219895 Simple 750012595 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.87 1.0 Uncertain significance 0 -219897 Simple 864622301 AA . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast 2015-08-20 8.100000000000001 2.0 Likely pathogenic 1 -219899 Simple 763639161 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -219901 Simple 771732591 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-05-22 -6.0 0.5 Likely benign 0 -219905 Simple 142371511 C . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -219906 Simple 864622304 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -219908 Simple 571548182 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-04-14 -0.5700000000000001 1.0 Uncertain significance 0 -219909 Simple 63749991 G . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-01 11.4 1.0 Pathogenic/Likely pathogenic 1 -219912 Simple 200737038 A . Pathogenic 2 2 Inborn genetic diseases;Spastic paraplegia 2016-10-05 9.6 3.0 Pathogenic/Likely pathogenic 1 -219913 Simple 142246608 C . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-30 -8.7 1.0 Benign/Likely benign 1 -219914 Simple 374343214 C . Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-01-17 -6.0 1.0 Likely benign 0 -219915 Simple 201927627 T . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-10-19 -18.0 0.6 Benign/Likely benign 0 -219918 Simple 138967272 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type I;Charcot-Marie-Tooth, Type 1 2016-11-24 -9.0 1.0 Benign/Likely benign 0 -219920 Simple 864622308 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-15 -0.5700000000000001 1.0 Uncertain significance 0 -219924 Simple 864622309 - . Pathogenic 2 2 Long QT syndrome;not provided 2016-06-24 12.0 1.0 Pathogenic/Likely pathogenic 1 -219926 Simple 754522007 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-08 -0.5700000000000001 1.0 Uncertain significance 0 -219928 Simple 864622312 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.5 Uncertain significance 0 -219935 Simple 749647961 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-08-25 -5.4 2.0 Likely benign 0 -219936 Simple 370130178 C . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2015-08-25 -5.4 2.0 Likely benign 0 -219939 Simple 527725593 C . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-13 -9.0 1.0 Benign/Likely benign 1 -219940 Simple 555069082 - . Benign/Likely benign 2 3 Gorlin syndrome;not specified 2017-07-12 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -219943 Simple 759868546 G . Uncertain significance 2 2 Lynch syndrome II;Lynch syndrome 2016-11-17 -0.6 1.0 Uncertain significance 0 -219945 Simple 864622320 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-01-10 -5.7 1.5 Likely benign 0 -219947 Simple 144957306 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-31 -5.4 1.5 Likely benign 0 -219948 Simple 758515222 T . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 1.0 Benign/Likely benign 1 -219952 Simple 141468012 G . Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2016-09-14 -5.7 1.5 Likely benign 0 -219953 Simple 587782228 A . Pathogenic/Likely pathogenic 2 5 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-09-25 18.0 0.4 Pathogenic 1 -219956 Simple 864622324 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-06 -0.6 1.0 Uncertain significance 0 -219957 Simple 200932258 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-01-09 -0.8999999999999999 1.0 Uncertain significance 0 -219959 Simple 553492964 T . Likely benign 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-21 -12.0 0.75 Benign/Likely benign 1 -219961 Simple 587782621 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-28 -0.87 0.6666666666666666 Uncertain significance 0 -219962 Simple 864622325 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-17 -5.7 1.0 Likely benign 0 -219963 Simple 864622326 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-15 11.4 1.0 Pathogenic/Likely pathogenic 1 -219965 Simple 115576923 G . Likely benign 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-07 -8.4 1.3333333333333333 Benign/Likely benign 1 -219970 Simple 864622329 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-06 -0.5700000000000001 1.5 Uncertain significance 0 -219972 Simple 864622330 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-07 -0.5700000000000001 1.0 Uncertain significance 0 -219975 Simple 587780786 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-11-08 -5.7 1.5 Likely benign 0 -219976 Simple 764332485 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-13 -5.7 1.0 Likely benign 0 -219981 Simple 115750264 T . Benign/Likely benign 2 2 Holoprosencephaly sequence;not specified;Holoprosencephaly 2016-07-26 -9.0 1.0 Benign/Likely benign 0 -219982 Simple 11926958 G . Benign 2 1 Nephronophthisis;not specified 2017-05-30 . 0.0 . 0 -219985 Simple 2234917 C . Benign/Likely benign 2 2 Polycystic kidney disease, autosomal dominant;not specified 2016-12-24 -8.7 1.5 Benign/Likely benign 0 -219991 Simple 760345157 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-16 -12.0 0.75 Benign/Likely benign 1 -219996 Simple 776046799 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-17 -0.5700000000000001 1.0 Uncertain significance 0 -219999 Simple 749036865 T . Pathogenic 2 4 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 24.0 0.5 Pathogenic 0 -220000 Simple 63750600 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -5.7 1.0 Likely benign 0 -220003 Simple 864622338 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -220004 Simple 768731187 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -220005 Simple 864622339 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-18 -6.0 0.5 Likely benign 0 -220006 Simple 864622340 - . Pathogenic 2 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-06 16.8 1.3333333333333333 Pathogenic 0 -220008 Simple 775030825 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -220009 Simple 864622342 A . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-11-21 -5.7 1.5 Likely benign 0 -220014 Simple 864622345 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -220016 Simple 185822330 A . Uncertain significance 2 2 Fanconi anemia;Hereditary cancer-predisposing syndrome 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -220019 Simple 148969222 T . Pathogenic/Likely pathogenic 2 3 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -220024 Simple 746972142 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220025 Simple 139891783 G . Uncertain significance 2 3 not specified;Hereditary nonpolyposis colon cancer 2017-09-05 -0.8999999999999999 0.0 Uncertain significance 0 -220026 Simple 864622350 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -220027 Simple 35225190 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -8.4 1.0 Benign/Likely benign 1 -220028 Simple 770450108 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-02 -0.5700000000000001 1.5 Uncertain significance 0 -220038 Simple 145557320 C . Benign/Likely benign 2 2 Long QT syndrome 2017-06-14 -9.0 0.5 Benign/Likely benign 0 -220040 Simple 144288981 A . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -8.7 1.0 Benign/Likely benign 1 -220044 Simple 34652786 T . Uncertain significance 2 2 Bardet-Biedl syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -220054 Simple 864622359 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -220061 Simple 864622363 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -0.87 1.0 Uncertain significance 0 -220063 Simple 143670820 C . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -220064 Simple 767670019 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -220065 Simple 587780020 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-06-22 -0.6 0.5 Uncertain significance 0 -220069 Simple 267607823 T . Pathogenic 2 4 Lynch syndrome II;Lynch syndrome;not provided 2017-02-17 23.4 1.25 Pathogenic 0 -220073 Simple 864622369 A . Likely benign 2 5 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-02 -15.0 1.0 Benign/Likely benign 1 -220075 Simple 864622371 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-18 -0.87 0.6666666666666666 Uncertain significance 0 -220076 Simple 757916109 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-14 -0.5700000000000001 1.0 Uncertain significance 0 -220077 Simple 864622372 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-06-02 -5.7 1.5 Likely benign 0 -220078 Simple 864622373 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -220080 Simple 186626274 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -1.2 0.5 Uncertain significance 0 -220081 Simple 76012218 A . Benign 2 1 Autosomal recessive polycystic kidney disease;not specified 2017-07-28 . 0.0 . 0 -220084 Simple 761360623 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -220086 Simple 146179851 A . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-08-19 -13.8 1.75 Benign/Likely benign 0 -220089 Simple 864622376 TCTTCT . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -0.87 0.6666666666666666 Uncertain significance 0 -220090 Simple 117178504 A . Benign/Likely benign 2 2 Jeune thoracic dystrophy;not specified 2016-11-07 -9.0 1.0 Benign/Likely benign 0 -220092 Simple 61749025 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-01-19 . 1.0 . 0 -220094 Simple 35445653 T . Benign/Likely benign 2 3 Autosomal recessive polycystic kidney disease;not specified;not provided 2017-07-28 -14.4 1.0 Benign/Likely benign 0 -220095 Simple 79037278 C . Benign/Likely benign 2 4 Jeune thoracic dystrophy;Nephronophthisis;not specified 2017-07-11 -20.4 1.0 Benign/Likely benign 0 -220098 Simple 864622378 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-11 -6.0 0.5 Likely benign 0 -220100 Simple 864622380 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -1.17 1.0 Uncertain significance 0 -220102 Simple 864622381 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -5.7 1.0 Likely benign 0 -220108 Simple 587781901 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -220109 Simple 138135866 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-06-13 -0.5700000000000001 1.5 Uncertain significance 0 -220111 Simple 747764678 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.0 Uncertain significance 0 -220119 Simple . . . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-10-02 8.100000000000001 2.0 Likely pathogenic 1 -220121 Simple 1060499600 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -220122 Simple 780665234 G . Likely benign 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -14.7 1.0 Benign/Likely benign 1 -220131 Simple 756638660 A . Likely benign 2 2 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.5 Likely benign 0 -220137 Simple 864622394 T . Conflicting interpretations of pathogenicity 1 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-02-21 -3.57 1.3333333333333333 Uncertain significance 0 -220138 Simple 780179187 T . Uncertain significance 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -220140 Simple 864622395 C . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2015-09-04 -0.54 2.0 Uncertain significance 0 -220141 Simple 587781707 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -0.87 1.3333333333333333 Uncertain significance 0 -220143 Simple 762168786 T . Uncertain significance 2 3 Lynch syndrome;not specified 2017-06-20 -0.87 0.6666666666666666 Uncertain significance 0 -220144 Simple 149782464 A . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-10-29 -11.7 1.25 Benign/Likely benign 1 -220147 Simple 757866392 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-27 -9.0 0.6666666666666666 Benign/Likely benign 1 -220150 Simple 864622397 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-08-18 -0.87 1.0 Uncertain significance 0 -220152 Simple 760703505 T . Pathogenic/Likely pathogenic 2 4 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome;Thoracic scoliosis;Multiple cafe-au-lait spots;Subcutaneous neurofibromas 2017-06-23 19.8 1.25 Pathogenic 1 -220155 Simple 864622398 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-05 -11.4 1.0 Benign/Likely benign 1 -220156 Simple 371718349 C . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -220157 Simple 63750843 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.87 0.6666666666666666 Uncertain significance 0 -220159 Simple 864622400 A . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -1.2 0.5 Uncertain significance 0 -220160 Simple 864622401 TGTG . Pathogenic 3 6 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast 2016-09-08 36.0 0.6666666666666666 Pathogenic 0 -220161 Simple 864622402 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-06-17 -0.5700000000000001 1.5 Uncertain significance 0 -220165 Simple 864622406 T . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-25 -8.7 1.3333333333333333 Benign/Likely benign 1 -220166 Simple 202047206 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -6.27 1.3333333333333333 Likely benign 0 -220169 Simple 864622407 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -220173 Simple 864622411 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-01 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -220175 Simple 201687117 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, dominant intermediate C;not specified 2017-08-28 -0.5700000000000001 1.0 Uncertain significance 0 -220176 Simple 375080917 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220179 Simple 145324174 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220180 Simple 775191883 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-03 -0.5700000000000001 1.5 Uncertain significance 0 -220181 Simple 864622413 G . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2016-08-09 -0.5700000000000001 1.5 Uncertain significance 0 -220183 Simple 781147524 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -220184 Simple 377662483 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-09 -0.6 0.0 Uncertain significance 0 -220185 Simple 267607832 A . Pathogenic/Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-11 9.0 0.0 Pathogenic/Likely pathogenic 0 -220187 Simple 139653388 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-16 -5.4 1.5 Likely benign 0 -220188 Simple 759660081 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-09-10 -5.1 2.5 Likely benign 0 -220190 Simple 147558344 T . Benign/Likely benign 2 7 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-20 -24.0 0.8571428571428571 Benign 1 -220191 Simple 370197479 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -11.4 1.0 Benign/Likely benign 1 -220192 Simple 765195534 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-09-10 -0.54 2.0 Uncertain significance 0 -220195 Simple 864622414 C . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2015-09-11 -5.4 2.0 Likely benign 0 -220197 Simple 373984280 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -220198 Simple 864622416 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-07-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -220199 Simple 864622417 TT . Uncertain significance 2 2 Fanconi anemia;not specified 2016-11-18 -0.5700000000000001 1.5 Uncertain significance 0 -220201 Simple 864622418 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-16 -8.4 1.3333333333333333 Benign/Likely benign 1 -220202 Simple 41314375 A . Benign/Likely benign 2 2 Long QT syndrome 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -220203 Simple 377433038 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-15 -1.2 0.5 Uncertain significance 0 -220207 Simple 559827048 T . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-05-12 -6.0 0.5 Likely benign 0 -220208 Simple 773724817 A . Pathogenic 2 3 Long QT syndrome 2;Long QT syndrome;not provided 2016-10-09 17.4 1.3333333333333333 Pathogenic 0 -220209 Simple 377121179 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2E;not specified 2017-08-07 -0.6 0.5 Uncertain significance 0 -220210 Simple 371897078 T . Uncertain significance 2 2 Fanconi anemia;not specified 2017-06-23 -0.6 0.5 Uncertain significance 0 -220215 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -220218 Simple 200048921 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-27 -1.17 1.0 Uncertain significance 0 -220219 Simple 864622424 T . Likely benign 2 3 Lynch syndrome II;Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-08 -8.7 1.3333333333333333 Benign/Likely benign 1 -220220 Simple 864622425 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-19 -0.5700000000000001 1.5 Uncertain significance 0 -220223 Simple 786203968 T . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -220225 Simple 752871324 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-24 -0.8999999999999999 1.0 Uncertain significance 0 -220229 Simple 138798955 C . Benign 2 2 Jeune thoracic dystrophy;not specified 2015-12-07 -10.8 2.0 Benign/Likely benign 1 -220231 Simple 143323188 - . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis 2017-06-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -220232 Simple 864622431 G . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-10-04 11.4 1.5 Pathogenic/Likely pathogenic 1 -220237 Simple 864622434 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -220238 Simple 373418713 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-27 -0.84 1.3333333333333333 Uncertain significance 0 -220241 Simple 864622435 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -220242 Simple 149091602 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-05-09 -6.0 0.5 Likely benign 0 -220245 Simple 375741316 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -0.87 1.0 Uncertain significance 0 -220247 Simple 377722465 A . Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-17 -11.7 1.25 Benign/Likely benign 1 -220253 Simple 864622443 C . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-25 -8.4 1.3333333333333333 Benign/Likely benign 1 -220254 Simple 137928436 A . Benign/Likely benign 2 6 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-07-30 -20.4 1.1666666666666667 Benign/Likely benign 0 -220256 Simple 28997574 C . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -11.4 1.25 Benign/Likely benign 1 -220257 Simple 748016261 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-11-24 -1.17 0.5 Uncertain significance 0 -220260 Simple 864622446 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-09-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -220262 Simple 199539973 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2016-09-30 -0.5700000000000001 1.5 Uncertain significance 0 -220263 Simple 864622447 G . Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -11.4 1.25 Benign/Likely benign 1 -220264 Simple 864622448 G . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-27 -1.2 0.5 Uncertain significance 0 -220265 Simple 864622449 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -220267 Simple 771694969 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-07 -0.6 0.5 Uncertain significance 0 -220269 Simple 148920907 A . Uncertain significance 2 2 Polycystic kidney disease, autosomal dominant;not specified 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -220270 Simple 864622450 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-11-30 -0.5700000000000001 1.0 Uncertain significance 0 -220271 Simple 763203357 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-05-25 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -220273 Simple 145646046 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-09-19 -5.1 2.5 Likely benign 0 -220274 Simple 748865537 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-03-18 -5.7 1.5 Likely benign 0 -220276 Simple 193049694 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-24 -0.6 1.0 Uncertain significance 0 -220277 Simple 864622452 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -18.0 0.6666666666666666 Benign/Likely benign 1 -220279 Simple 762818044 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-29 -0.87 1.3333333333333333 Uncertain significance 0 -220280 Simple 864622454 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -220285 Simple 35151472 A . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-10-30 -1.2 0.25 Uncertain significance 0 -220294 Simple 864622465 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-09-19 -0.54 2.0 Uncertain significance 0 -220298 Simple 864622467 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-09-26 -5.7 1.5 Likely benign 0 -220303 Simple 776730549 A . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2016-03-28 -0.5700000000000001 1.5 Uncertain significance 0 -220307 Simple 774767260 T . Likely benign 2 2 Familial hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5;Cardiovascular phenotype 2016-08-18 -5.7 1.5 Likely benign 0 -220308 Simple 765990832 G . Likely benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-02-22 -8.7 1.3333333333333333 Benign/Likely benign 1 -220310 Simple 587782337 TCATTAAC . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-10 24.0 0.25 Pathogenic 0 -220311 Simple 753061100 T . Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-02-01 -6.0 1.0 Likely benign 0 -220312 Simple 864622471 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-12-28 -0.54 2.0 Uncertain significance 0 -220313 Simple 756153152 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-08-16 -0.87 1.3333333333333333 Uncertain significance 0 -220320 Simple 372558350 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -6.0 0.5 Likely benign 0 -220322 Simple 864622474 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2015-09-20 -0.54 2.0 Uncertain significance 0 -220323 Simple 864622475 - . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-15 -9.0 1.0 Benign/Likely benign 1 -220328 Simple 864622479 T . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome 2017-06-14 9.0 0.5 Pathogenic/Likely pathogenic 0 -220329 Simple 777760565 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-04 -0.6 1.0 Uncertain significance 0 -220330 Simple 34288963 C . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -220332 Simple 200063827 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-07-31 -17.4 1.0 Benign/Likely benign 0 -220334 Simple 117367857 T . Benign 2 2 not specified;Spastic paraplegia 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -220335 Simple 745971584 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -8.7 1.0 Benign/Likely benign 1 -220336 Simple 41293519 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.4 Benign/Likely benign 1 -220337 Simple 372441422 A . Uncertain significance 2 5 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis 2017-02-13 -1.5 1.0 Uncertain significance 0 -220340 Simple 774339063 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-08 -0.5700000000000001 1.0 Uncertain significance 0 -220341 Simple 181192122 C . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -220342 Simple 864622482 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-03-24 -5.7 1.5 Likely benign 0 -220344 Simple 864622484 C . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-05-26 -0.87 1.0 Uncertain significance 0 -220345 Simple 76895298 G . Benign/Likely benign 2 2 Fanconi anemia;Hereditary cancer-predisposing syndrome 2017-10-31 -9.0 0.0 Benign/Likely benign 0 -220348 Simple 114139824 C . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;Cardiovascular phenotype 2017-06-07 -17.4 1.0 Benign/Likely benign 0 -220350 Simple 864622487 C . Likely benign 2 2 Familial cancer of breast;not specified 2015-10-20 -5.4 2.0 Likely benign 0 -220352 Simple 199894823 C . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-07-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220354 Simple 56252953 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-19 -0.6 0.0 Uncertain significance 0 -220357 Simple 763622701 TGAGCATGAGCA . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-18 -0.87 1.0 Uncertain significance 0 -220358 Simple 864622490 A . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-30 24.0 0.5 Pathogenic 0 -220359 Simple 864622491 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -220363 Simple 864622494 A . Likely benign 2 2 Lynch syndrome;not specified 2016-10-03 -5.7 1.5 Likely benign 0 -220365 Simple 373430058 T . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-26 -13.8 1.75 Benign/Likely benign 0 -220366 Simple 864622496 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -12.3 0.75 Benign/Likely benign 1 -220367 Simple 762099920 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220370 Simple 369265532 C . Uncertain significance 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.87 1.0 Uncertain significance 0 -220371 Simple 864622498 TT . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 20.7 0.5 Pathogenic 1 -220372 Simple 864622499 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2E;not specified 2016-09-21 -0.5700000000000001 1.5 Uncertain significance 0 -220373 Simple 730881660 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2015-09-26 -0.54 2.0 Uncertain significance 0 -220374 Simple 371876208 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-16 -5.7 1.5 Likely benign 0 -220375 Simple 2066832 G . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-04 -15.0 0.75 Benign/Likely benign 0 -220376 Simple 2066831 A . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-04 -15.0 0.75 Benign/Likely benign 0 -220378 Simple 775621333 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220385 Simple 149398794 A . Benign/Likely benign 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -14.4 1.0 Benign/Likely benign 0 -220386 Simple 747317946 T . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -11.4 1.25 Benign/Likely benign 1 -220388 Simple 61732733 T . Benign 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2017-08-10 -12.0 0.5 Benign/Likely benign 1 -220389 Simple 376364468 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-08-03 -0.5700000000000001 1.5 Uncertain significance 0 -220394 Simple 140812293 T . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2017-04-10 -9.0 0.5 Benign/Likely benign 0 -220395 Simple 540799830 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -220398 Simple 864622510 A . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -11.7 0.75 Benign/Likely benign 1 -220403 Simple 116872934 C . Benign/Likely benign 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-02-13 -23.4 1.2 Benign/Likely benign 0 -220405 Simple 115042730 A . Uncertain significance 2 2 Nephronophthisis 2017-06-07 -0.6 0.5 Uncertain significance 0 -220407 Simple 75413741 G . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-07-24 -15.0 0.75 Benign/Likely benign 0 -220408 Simple 370115218 A . Pathogenic 2 2 Charcot-Marie-Tooth disease, type IV;not provided 2017-11-16 11.4 1.0 Pathogenic/Likely pathogenic 1 -220411 Simple 143494325 G . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-11-13 -0.6 0.5 Uncertain significance 0 -220413 Simple 864622516 A . Likely benign 3 6 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.6 1.0 Benign/Likely benign 1 -220417 Simple 63750330 A . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-06 12.0 0.0 Pathogenic/Likely pathogenic 1 -220422 Simple 62636572 T . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-08-03 -29.4 1.0 Benign 1 -220423 Simple 56025621 C . Benign/Likely benign 2 2 Hemochromatosis type 2A;Juvenile hemochromatosis;not specified 2017-07-13 -9.0 0.5 Benign/Likely benign 0 -220424 Simple 864622520 A . Pathogenic/Likely pathogenic 2 2 Spastic paraplegia 3;not provided 2016-08-24 8.7 1.5 Pathogenic/Likely pathogenic 0 -220425 Simple 188615176 T . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -220433 Simple 146848345 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-31 -0.8999999999999999 0.0 Uncertain significance 0 -220439 Simple 2229062 G . Benign/Likely benign 2 4 Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-07-27 -18.0 0.5 Benign/Likely benign 0 -220440 Simple 529148674 G . Benign/Likely benign 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -15.0 0.75 Benign/Likely benign 0 -220444 Simple 747239403 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-01-03 -0.5700000000000001 1.5 Uncertain significance 0 -220448 Simple 748196422 A . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -1.1400000000000001 1.25 Uncertain significance 0 -220449 Simple 747842085 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.2 0.25 Uncertain significance 0 -220451 Simple 58629309 A . Benign/Likely benign 2 4 Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-08 -18.0 0.75 Benign/Likely benign 0 -220453 Simple 142317485 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -1.2 0.25 Uncertain significance 0 -220456 Simple 377481833 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-15 -6.0 1.0 Likely benign 0 -220459 Simple 201194631 A . Uncertain significance 2 3 Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome 2017-04-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220461 Simple 142927667 C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-08-11 -0.5700000000000001 1.5 Uncertain significance 0 -220464 Simple 864622536 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -220465 Simple 864622537 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-20 -0.5700000000000001 1.5 Uncertain significance 0 -220468 Simple 139613776 AA . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-07-31 -15.0 0.75 Benign/Likely benign 0 -220470 Simple 864622539 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-26 -6.0 0.5 Likely benign 0 -220471 Simple 777231059 T . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -5.1 2.0 Likely benign 0 -220472 Simple 864622540 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -220476 Simple 369756202 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -220479 Simple 371581213 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-05 -5.7 1.0 Likely benign 0 -220480 Simple 545982789 G . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-24 5.7 1.5 Likely pathogenic 0 -220485 Simple 780749732 C . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.6 0.5 Uncertain significance 0 -220486 Simple 864622544 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-10-04 -5.4 2.0 Likely benign 0 -220488 Simple 373393954 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-24 -0.8999999999999999 0.0 Uncertain significance 0 -220492 Simple 763298811 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-15 -0.5700000000000001 1.0 Uncertain significance 0 -220494 Simple 763064034 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -1.2 0.25 Uncertain significance 0 -220495 Simple 766105286 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-02-22 -8.4 1.5 Benign/Likely benign 0 -220496 Simple 864622549 T . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2016-08-22 -0.5700000000000001 1.5 Uncertain significance 0 -220497 Simple 864622550 C . Uncertain significance 2 2 Fanconi anemia;not specified 2016-06-04 -0.5700000000000001 1.5 Uncertain significance 0 -220499 Simple 150281463 G . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-11-17 -0.87 1.3333333333333333 Uncertain significance 0 -220500 Simple 864622552 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-10 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -220507 Simple 762876946 A . Benign/Likely benign 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-08-04 -14.4 1.0 Benign/Likely benign 0 -220508 Simple 531540031 T . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -220510 Simple 863224482 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 11.4 1.0 Pathogenic/Likely pathogenic 1 -220517 Simple 372012641 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-02-16 -0.6 1.0 Uncertain significance 0 -220518 Simple 864622368 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-08 -0.5700000000000001 1.5 Uncertain significance 0 -220519 Simple 864622562 T . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2015-10-07 -5.4 2.0 Likely benign 0 -220520 Simple 372934565 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -11.7 0.75 Benign/Likely benign 1 -220521 Simple 776615468 C . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2 2016-10-13 -0.87 1.3333333333333333 Uncertain significance 0 -220522 Simple 864622563 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220524 Simple 760813493 C . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.5 Uncertain significance 0 -220525 Simple 139495263 A . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.0 Uncertain significance 0 -220526 Simple 864622565 A . Likely benign 2 2 Lynch syndrome;not specified 2016-04-21 -5.7 1.5 Likely benign 0 -220527 Simple 864622566 G . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2015-10-13 -0.54 2.0 Uncertain significance 0 -220528 Simple 373147078 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -220530 Simple 34617196 C . Uncertain significance 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified 2017-07-24 -1.2 0.75 Uncertain significance 0 -220531 Simple 200431631 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.2 0.25 Uncertain significance 0 -220532 Simple 864622568 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -220533 Simple 774539871 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -0.6 0.0 Uncertain significance 0 -220537 Simple 587782307 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-19 -0.5700000000000001 1.0 Uncertain significance 0 -220538 Simple 558667657 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -8.7 0.6666666666666666 Benign/Likely benign 1 -220539 Simple 767666029 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -220546 Simple 770894012 C . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -12.0 0.25 Benign/Likely benign 1 -220548 Simple 864622574 A . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-11-17 -5.7 1.5 Likely benign 0 -220550 Simple 759965045 - . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 27.0 0.8 Pathogenic 1 -220553 Simple 62637630 A . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-07-18 -18.0 0.75 Benign/Likely benign 0 -220554 Simple 864622578 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220555 Simple 772926890 T . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-06-02 19.5 1.75 Pathogenic 1 -220558 Simple 751232859 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -220561 Simple 56283738 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-08 -1.11 1.75 Uncertain significance 0 -220564 Simple 864622582 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-14 -0.5700000000000001 1.0 Uncertain significance 0 -220565 Simple 77697105 T . Benign 2 3 Spastic paraplegia 11, autosomal recessive;not specified 2017-08-08 -18.0 0.3333333333333333 Benign/Likely benign 1 -220566 Simple 78183930 T . Benign 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2017-08-03 -12.0 0.0 Benign/Likely benign 1 -220570 Simple 864622585 T . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-10-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -220573 Simple 864622588 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.87 1.0 Uncertain significance 0 -220585 Simple 748202003 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.17 0.75 Uncertain significance 0 -220588 Simple 535411352 A . Likely benign 2 6 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-07-21 -17.7 0.6666666666666666 Benign/Likely benign 1 -220592 Simple 864622593 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-11-23 -5.4 2.0 Likely benign 0 -220593 Simple 546524688 AA . Benign/Likely benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -220595 Simple 142397473 A . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 -9.0 0.0 Benign/Likely benign 0 -220597 Simple 864622595 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-27 -5.7 1.5 Likely benign 0 -220601 Simple 864622597 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-28 -0.87 1.0 Uncertain significance 0 -220607 Simple 763287238 TT . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-06 -11.4 1.3333333333333333 Benign/Likely benign 0 -220612 Simple 757318914 - . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-10-24 -6.0 0.5 Likely benign 0 -220614 Simple 772992098 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -1.2 0.5 Uncertain significance 0 -220615 Simple 864622606 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-03 -0.5700000000000001 1.5 Uncertain significance 0 -220616 Simple 765058736 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-03 -0.6 0.0 Uncertain significance 0 -220617 Simple 515726087 C . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-02 -8.7 0.6666666666666666 Benign/Likely benign 1 -220619 Simple 864622607 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.87 1.0 Uncertain significance 0 -220620 Simple 370762336 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-10-16 -5.4 2.0 Likely benign 0 -220624 Simple 864622609 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -220625 Simple 769196703 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-07 -0.5700000000000001 1.5 Uncertain significance 0 -220627 Simple 774380450 T . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2016-12-02 -0.6 1.0 Uncertain significance 0 -220629 Simple 864622611 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-03-09 17.4 1.0 Pathogenic 0 -220631 Simple 770834907 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -12.0 0.5 Benign/Likely benign 1 -220635 Simple 199945393 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-25 -8.7 1.0 Benign/Likely benign 1 -220636 Simple 864622614 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-15 -0.6 0.5 Uncertain significance 0 -220639 Simple 571971903 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.17 1.0 Uncertain significance 0 -220641 Simple 28997577 C . Benign/Likely benign 2 5 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -23.7 0.8 Benign/Likely benign 0 -220642 Simple 5744752 T . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-04 -14.7 0.5 Benign/Likely benign 0 -220643 Simple 864622615 A . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not specified;not provided 2017-11-03 17.4 1.0 Pathogenic 0 -220645 Simple 864622616 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2016-05-24 -0.5700000000000001 1.5 Uncertain significance 0 -220646 Simple 147438385 C . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type IV;not specified 2017-09-11 -0.87 1.0 Uncertain significance 0 -220648 Simple 864622618 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-12 -0.54 2.0 Uncertain significance 0 -220650 Simple 542575761 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-03 -8.4 1.0 Benign/Likely benign 0 -220651 Simple 864622619 C . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-28 -8.7 1.0 Benign/Likely benign 1 -220653 Simple 864622621 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-04-20 -5.7 1.0 Likely benign 0 -220655 Simple 778205243 G . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-08-11 -0.6 0.5 Uncertain significance 0 -220656 Simple 41309046 T . Benign 2 2 Infantile-onset ascending hereditary spastic paralysis;not specified 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -220658 Simple 2233695 T . Benign/Likely benign 2 2 Spastic paraplegia 2;not provided 2017-09-18 -8.4 1.0 Benign/Likely benign 0 -220661 Simple 864622624 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-12 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -220662 Simple 147428832 A . Benign 2 2 Mast syndrome;not specified 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -220663 Simple 34373049 T . Benign/Likely benign 2 4 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-08-01 -21.0 0.5 Benign/Likely benign 0 -220664 Simple 864622625 T . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-07 -12.0 0.5 Benign/Likely benign 1 -220666 Simple 779468443 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-07 -0.5700000000000001 1.0 Uncertain significance 0 -220667 Simple 138308365 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-16 -6.0 0.0 Likely benign 0 -220669 Simple 146444298 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-20 -0.84 1.3333333333333333 Uncertain significance 0 -220672 Simple 768471151 A . Likely benign 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-08-17 -5.7 1.5 Likely benign 0 -220673 Simple 35616709 G . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -9.0 1.0 Benign/Likely benign 0 -220674 Simple 28756992 C . Benign/Likely benign 2 2 Lynch syndrome;MLH3-Related Lynch Syndrome 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -220676 Simple 763801533 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2015-10-20 10.2 2.5 Pathogenic/Likely pathogenic 1 -220679 Simple 376634193 G . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2015-10-20 -0.75 2.6666666666666665 Uncertain significance 0 -220680 Simple 375676529 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2015-10-20 -0.75 2.6666666666666665 Uncertain significance 0 -220683 Simple 116231808 G . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-09-25 -12.0 0.0 Benign/Likely benign 0 -220684 Simple 111491424 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-10-23 -0.6 0.5 Uncertain significance 0 -220686 Simple 371439173 C . Uncertain significance 2 2 Congenital contractural arachnodactyly 2017-07-31 -0.6 0.5 Uncertain significance 0 -220687 Simple 140658743 A . Likely benign 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2 2017-07-17 -9.0 0.6666666666666666 Benign/Likely benign 1 -220690 Simple 73933276 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-07-21 -9.0 0.5 Benign/Likely benign 0 -220691 Simple 571335388 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -8.7 0.6666666666666666 Benign/Likely benign 1 -220692 Simple 752751588 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -11.7 0.75 Benign/Likely benign 1 -220693 Simple 864622629 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -220694 Simple 748603803 G . Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-03 -14.7 1.0 Benign/Likely benign 1 -220695 Simple 864622630 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -0.8999999999999999 0.0 Uncertain significance 0 -220697 Simple 113282414 T . Benign/Likely benign 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -26.4 0.8 Benign 1 -220703 Simple 75874199 T . Benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -22.8 1.25 Benign/Likely benign 1 -220706 Simple 864622632 A . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -220710 Simple 864622635 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-03 -0.6 0.0 Uncertain significance 0 -220711 Simple 864622636 A . Pathogenic 2 3 not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-04-14 18.0 0.6666666666666666 Pathogenic 0 -220712 Simple 768931909 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-12 -5.7 1.0 Likely benign 0 -220714 Simple 864622638 G . Uncertain significance 2 2 Peutz-Jeghers syndrome 2016-10-18 -0.5700000000000001 1.5 Uncertain significance 0 -220715 Simple 864622639 - . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -220717 Simple 570091335 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.5 Uncertain significance 0 -220719 Simple 149201802 G . Pathogenic 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-06-23 18.0 0.3333333333333333 Pathogenic 0 -220720 Simple 864622640 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-10-23 -5.4 2.0 Likely benign 0 -220722 Simple 57098408 A . Benign 2 5 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2016-07-28 -28.8 1.4 Benign 0 -220723 Simple 35744709 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -220724 Simple 117336941 T . Benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth disease, demyelinating, type 4f 2017-07-28 -12.0 0.0 Benign/Likely benign 1 -220727 Simple 114734921 C . Benign/Likely benign 2 4 Spastic paraplegia 47, autosomal recessive;not specified;not provided 2017-10-16 -14.7 0.75 Benign/Likely benign 0 -220729 Simple 118141823 T . Benign 2 2 not specified;Spastic paraplegia 49, autosomal recessive 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -220735 Simple 61751540 A . Benign 2 2 not specified;Adams-Oliver syndrome 5 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -220737 Simple 61751536 A . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-07-19 -9.0 0.0 Benign/Likely benign 0 -220738 Simple 864622644 G . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -220740 Simple 773393960 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -220741 Simple 750878896 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220742 Simple 140992397 C . Uncertain significance 2 2 Fanconi anemia;not specified 2015-10-23 -0.54 2.0 Uncertain significance 0 -220744 Simple 45562437 T . Benign/Likely benign 2 4 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -15.0 0.5 Benign/Likely benign 0 -220745 Simple 781627838 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -220747 Simple 201584313 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-21 -5.7 1.0 Likely benign 0 -220749 Simple 750693854 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-07-05 -0.6 1.0 Uncertain significance 0 -220751 Simple 864622646 T . Likely benign 2 2 Von Hippel-Lindau syndrome 2016-10-17 -5.7 1.5 Likely benign 0 -220752 Simple 780067844 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-27 -6.0 0.0 Likely benign 0 -220753 Simple 9282774 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 1C;Charcot-Marie-Tooth, Type 1 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -220754 Simple 41544624 G . Benign/Likely benign 2 4 Colorectal cancer 10;not specified 2017-08-02 -15.0 0.25 Benign/Likely benign 0 -220755 Simple 372109189 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-18 -0.6 0.5 Uncertain significance 0 -220756 Simple 144497088 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.1099999999999999 1.5 Uncertain significance 0 -220758 Simple 41561818 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-11 -14.7 0.75 Benign/Likely benign 0 -220763 Simple 864622649 TT . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-22 19.8 1.25 Pathogenic 1 -220764 Simple 56411694 T . Benign/Likely benign 2 4 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism;not specified 2017-08-18 -15.0 0.75 Benign/Likely benign 0 -220767 Simple 864622651 - . Pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-10-12 24.0 0.5 Pathogenic 0 -220769 Simple 376555330 T . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.0 Uncertain significance 0 -220773 Simple 864622653 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.5 Uncertain significance 0 -220775 Simple 864622654 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.1400000000000001 1.25 Uncertain significance 0 -220778 Simple 746293837 A . Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-24 -11.4 1.0 Benign/Likely benign 1 -220780 Simple 71651686 A . Benign/Likely benign 2 5 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -18.0 0.6 Benign/Likely benign 0 -220781 Simple 28756981 G . Benign/Likely benign 2 2 Lynch syndrome;not specified;MLH3-Related Lynch Syndrome 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -220784 Simple 773955368 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-26 -0.8999999999999999 0.0 Uncertain significance 0 -220785 Simple 117409343 T . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12 2017-08-14 -21.0 0.5 Benign/Likely benign 0 -220788 Simple 777046310 - . Benign/Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-08-09 -9.0 0.0 Benign/Likely benign 0 -220789 Simple 142217269 T . Likely benign 2 2 Brugada syndrome;not specified 2017-10-25 -6.0 0.0 Likely benign 0 -220792 Simple 61751546 A . Benign/Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-11-09 -11.7 0.6666666666666666 Benign/Likely benign 0 -220793 Simple 771862077 A . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-03-28 -0.6 0.5 Uncertain significance 0 -220796 Simple 763702846 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-01 -1.2 0.25 Uncertain significance 0 -220798 Simple 587782476 TGCTGC . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.2 0.25 Uncertain significance 0 -220801 Simple 55806342 A . Benign 2 3 not specified;Aortic aneurysm, familial thoracic 8 2017-08-04 -18.0 0.6666666666666666 Benign/Likely benign 1 -220802 Simple 5744777 A . Benign/Likely benign 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-30 -23.4 0.6 Benign/Likely benign 0 -220804 Simple 864622659 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-20 -8.7 1.0 Benign/Likely benign 1 -220809 Simple 576884305 A . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -1.5 0.6 Uncertain significance 0 -220812 Simple 778573140 G . Uncertain significance 2 2 Lynch syndrome;not specified 2015-10-28 -0.54 2.0 Uncertain significance 0 -220817 Simple 138519829 T . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-08-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -220819 Simple 17884859 T . Benign/Likely benign 2 5 Neurofibromatosis, type 1;not specified;not provided 2017-01-10 -27.0 1.0 Benign 1 -220820 Simple 864622662 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 12.0 0.0 Pathogenic/Likely pathogenic 1 -220822 Simple 864622664 - . Pathogenic 2 2 Charcot-Marie-Tooth disease, type IV;not provided 2017-03-22 11.4 1.0 Pathogenic/Likely pathogenic 1 -220823 Simple 3218752 A . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -17.7 0.5 Benign/Likely benign 0 -220829 Simple 6413463 G . Likely benign 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-01 -8.7 0.6666666666666666 Benign/Likely benign 1 -220831 Simple 864622669 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-10-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -220832 Simple 531365419 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-25 -5.7 1.0 Likely benign 0 -220836 Simple 864622671 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-02-15 -0.54 2.0 Uncertain significance 0 -220837 Simple 5745068 T . Benign/Likely benign 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-20 -17.7 0.8 Benign/Likely benign 0 -220838 Simple 192490028 C . Benign/Likely benign 2 4 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -18.0 0.5 Benign/Likely benign 0 -220840 Simple 762709897 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-25 -0.5700000000000001 1.0 Uncertain significance 0 -220842 Simple 149973644 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-14 -17.7 0.5 Benign/Likely benign 0 -220844 Simple 864622672 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -220845 Simple 183981750 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-25 -0.6 1.0 Uncertain significance 0 -220847 Simple 149096523 A . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -11.7 0.5 Benign/Likely benign 1 -220849 Simple 864622674 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-10-29 -0.54 2.0 Uncertain significance 0 -220852 Simple 2099130 G . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-01 -9.0 0.0 Benign/Likely benign 0 -220856 Simple 186777258 G . Benign/Likely benign 2 2 Familial adenomatous polyposis 1;APC-Associated Polyposis Disorders 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -220857 Simple 864622677 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-25 -5.4 1.5 Likely benign 0 -220858 Simple 28997580 T . Benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-10 -23.4 1.0 Benign/Likely benign 1 -220859 Simple 568549476 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -8.7 0.6666666666666666 Benign/Likely benign 1 -220860 Simple 372652150 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-07-19 -6.0 0.0 Likely benign 0 -220864 Simple 756102261 T . Uncertain significance 2 3 Melanoma-pancreatic cancer syndrome;not specified;Hereditary cutaneous melanoma 2016-09-26 -0.8999999999999999 1.0 Uncertain significance 0 -220865 Simple 3218775 A . Benign/Likely benign 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -26.4 1.0 Benign 1 -220866 Simple 5745066 T . Benign/Likely benign 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-18 -20.4 0.8 Benign/Likely benign 0 -220867 Simple 140630401 T . Uncertain significance 2 2 Nephronophthisis;not specified 2017-08-22 -0.5700000000000001 1.0 Uncertain significance 0 -220868 Simple 751527253 - . Pathogenic 2 2 Renal-hepatic-pancreatic dysplasia;Meckel syndrome type 7;Nephronophthisis;Polycystic kidney dysplasia;not provided 2018-01-19 11.4 1.0 Pathogenic/Likely pathogenic 1 -220870 Simple 61734468 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified;not provided 2017-08-18 -9.0 0.0 Benign/Likely benign 0 -220874 Simple 200215822 T . Uncertain significance 2 3 Noonan syndrome-like disorder with loose anagen hair 1;not specified;Rasopathy 2016-08-28 -0.87 1.3333333333333333 Uncertain significance 0 -220875 Simple 368741914 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-11 -6.0 0.0 Likely benign 0 -220877 Simple 864622683 T . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-08-11 -0.6 0.0 Uncertain significance 0 -220878 Simple 34927702 A . Benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-06-23 -22.8 1.25 Benign/Likely benign 1 -220879 Simple 864622684 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-05-12 -0.5700000000000001 1.0 Uncertain significance 0 -220880 Simple 28730849 G . Benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-06-30 -22.8 1.25 Benign/Likely benign 1 -220881 Simple 35760114 A . Benign 2 2 Alstrom syndrome;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -220882 Simple 28730851 A . Benign 2 2 Alstrom syndrome;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -220883 Simple 189923349 T . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-06-22 -9.0 0.0 Benign/Likely benign 0 -220887 Simple 186823009 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.0 Uncertain significance 0 -220888 Simple 146747026 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -8.7 1.0 Benign/Likely benign 1 -220889 Simple 864622686 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-13 -0.5700000000000001 1.5 Uncertain significance 0 -220890 Simple 140216790 T . Benign/Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -11.7 0.6666666666666666 Benign/Likely benign 0 -220891 Simple 864622687 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220892 Simple 539865173 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-19 -5.7 1.0 Likely benign 0 -220893 Simple 864622688 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-10-29 -0.54 2.0 Uncertain significance 0 -220900 Simple 372391060 A . Benign/Likely benign 2 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -25.8 1.1666666666666667 Benign 1 -220901 Simple 35642130 A . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -20.1 1.25 Benign/Likely benign 0 -220907 Simple 11574889 A . Benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-31 -16.8 1.3333333333333333 Benign/Likely benign 1 -220908 Simple 864622694 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-30 -6.0 0.5 Likely benign 0 -220909 Simple 200082120 A . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-19 -11.7 0.6666666666666666 Benign/Likely benign 0 -220911 Simple 202196322 T . Uncertain significance 2 2 Bardet-Biedl syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -220913 Simple 20582 T . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -14.7 1.0 Benign/Likely benign 0 -220914 Simple 72549292 T . Benign/Likely benign 2 4 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism 2017-08-15 -15.0 0.75 Benign/Likely benign 0 -220918 Simple 417164 T . Likely benign 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-07-09 -8.7 1.0 Benign/Likely benign 1 -220920 Simple 4647506 A . Benign/Likely benign 2 4 Fanconi anemia;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 -17.7 1.0 Benign/Likely benign 0 -220922 Simple 377720149 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-07-25 -8.7 1.0 Benign/Likely benign 1 -220923 Simple 144079536 C . Uncertain significance 2 4 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-09 -1.2 0.75 Uncertain significance 0 -220924 Simple 775661457 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-06 -0.5700000000000001 1.0 Uncertain significance 0 -220926 Simple 745483867 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-16 -6.0 0.0 Likely benign 0 -220928 Simple 864622698 AA . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-04 -0.6 0.0 Uncertain significance 0 -220932 Simple 144717157 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth Neuropathy X;not specified;Charcot-Marie-Tooth, X-linked 2017-06-29 -15.0 0.6666666666666666 Benign/Likely benign 0 -220933 Simple 193291405 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-08-03 -8.7 1.0 Benign/Likely benign 0 -220937 Simple 143243661 G . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -220938 Simple 61751955 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -0.87 0.6666666666666666 Uncertain significance 0 -220939 Simple 864622701 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-22 -0.87 0.6666666666666666 Uncertain significance 0 -220942 Simple 35117667 A . Benign/Likely benign 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -14.4 1.0 Benign/Likely benign 0 -220943 Simple 780187989 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.2 0.5 Uncertain significance 0 -220945 Simple 199574382 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -6.0 0.0 Likely benign 0 -220947 Simple 864622703 - . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -0.5700000000000001 1.0 Uncertain significance 0 -220948 Simple 188254555 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -220949 Simple 763471007 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.5 Uncertain significance 0 -220950 Simple 3218755 T . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -20.4 1.0 Benign/Likely benign 0 -220951 Simple 864622704 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-11-29 -0.6 0.0 Uncertain significance 0 -220952 Simple 369810881 A . Likely benign 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-20 -11.7 1.0 Benign/Likely benign 1 -220953 Simple 146370108 - . Benign 2 2 not specified;Ciliary dyskinesia, primary, 27 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -220959 Simple 113984787 A . Benign 2 2 Progressive familial heart block type 1B;not specified 2017-07-24 -12.0 0.5 Benign/Likely benign 1 -220960 Simple 111783027 G . Benign 2 2 Progressive familial heart block type 1B;not specified 2017-07-24 -12.0 0.5 Benign/Likely benign 1 -220961 Simple 111930830 A . Benign/Likely benign 2 3 Progressive familial heart block type 1B;not specified;Progressive familial heart block 2017-07-24 -15.0 0.6666666666666666 Benign/Likely benign 0 -220963 Simple 17782839 G . Benign/Likely benign 2 2 Lynch syndrome;MLH3-Related Lynch Syndrome 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -220964 Simple 864622706 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -220965 Simple 3219392 T . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -17.4 0.75 Benign/Likely benign 0 -220966 Simple 386810227 TG . Benign/Likely benign 2 3 Colorectal cancer 10;not specified 2017-08-08 -12.0 0.3333333333333333 Benign/Likely benign 0 -220971 Simple 45608038 G . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-07-17 -9.0 0.0 Benign/Likely benign 0 -220980 Simple 864622711 G . Uncertain significance 2 2 Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2016-02-25 -0.54 2.0 Uncertain significance 0 -220985 Simple 373448943 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-10-26 -0.6 0.5 Uncertain significance 0 -220987 Simple 61751548 A . Benign 2 4 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-31 -22.8 1.25 Benign/Likely benign 1 -220988 Simple 11574895 A . Benign 2 4 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-31 -22.8 1.25 Benign/Likely benign 1 -220992 Simple 12891164 A . Benign 2 2 not specified;Spastic paraplegia 2017-08-08 -12.0 0.0 Benign/Likely benign 1 -220998 Simple 587779840 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.5 Uncertain significance 0 -220999 Simple 864622718 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-20 -8.7 0.6666666666666666 Benign/Likely benign 1 -221005 Simple 61741137 G . Benign 2 2 not specified;Ciliary dyskinesia, primary, 30 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -221007 Simple 386712272 CT . Benign 2 1 Ciliary dyskinesia, primary, 6;not specified 2017-08-16 . 0.0 . 0 -221008 Simple 56246127 GAC . Benign 2 1 not specified;Ciliary dyskinesia, primary, 28 2015-11-02 . 2.0 . 0 -221010 Simple 35062203 G . Benign/Likely benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-10-19 -17.4 0.75 Benign/Likely benign 0 -221011 Simple 41295921 G . Benign/Likely benign 2 2 Hereditary hemochromatosis 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -221012 Simple 34071195 G . Benign/Likely benign 2 3 Alstrom syndrome;not specified;Monogenic diabetes 2017-06-05 -15.0 0.6666666666666666 Benign/Likely benign 0 -221013 Simple 78108069 T . Benign 2 2 Alstrom syndrome;not specified 2017-07-13 -12.0 0.5 Benign/Likely benign 1 -221014 Simple 139512700 C . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-05-22 -9.0 0.5 Benign/Likely benign 0 -221015 Simple 115517108 G . Benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-07-13 -22.8 1.25 Benign/Likely benign 1 -221016 Simple 75434052 G . Benign 2 2 Alstrom syndrome;not specified 2017-07-13 -12.0 0.5 Benign/Likely benign 1 -221017 Simple 7587103 G . Benign/Likely benign 2 3 Alstrom syndrome;not specified;not provided 2017-05-22 -11.7 1.0 Benign/Likely benign 0 -221018 Simple 11889925 A . Benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-07-13 -22.8 1.25 Benign/Likely benign 1 -221020 Simple 191092709 T . Benign 2 3 Brugada syndrome 8;not specified 2017-07-31 -16.8 1.3333333333333333 Benign/Likely benign 1 -221023 Simple 34093632 T . Benign 2 2 Brugada syndrome;Cardiovascular phenotype 2017-07-18 -11.4 1.0 Benign/Likely benign 1 -221025 Simple 2483221 T . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-06-20 -16.8 1.3333333333333333 Benign/Likely benign 1 -221028 Simple 45501594 G . Benign/Likely benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-08-02 -14.4 1.0 Benign/Likely benign 0 -221033 Simple 113302393 T . Benign/Likely benign 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-02 -11.7 1.0 Benign/Likely benign 0 -221034 Simple 571762192 G . Likely benign 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-17 -11.4 1.5 Benign/Likely benign 1 -221035 Simple 864622722 AA . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -221036 Simple 864622723 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-06 -0.5700000000000001 1.0 Uncertain significance 0 -221041 Simple 72550820 A . Benign 2 1 Gastrointestinal stromal tumor;not specified 2017-08-15 . 0.0 . 0 -221046 Simple 141461778 A . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Coffin-Siris syndrome 2017-08-21 -12.0 0.3333333333333333 Benign/Likely benign 0 -221049 Simple 371785856 T . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-07 -8.7 1.0 Benign/Likely benign 1 -221050 Simple 139500905 A . Benign/Likely benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -221052 Simple 3219440 C . Benign/Likely benign 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -26.4 1.0 Benign 1 -221053 Simple 796285537 TT . Benign/Likely benign 2 3 Colorectal cancer 10;not specified 2017-08-21 -12.0 0.6666666666666666 Benign/Likely benign 0 -221055 Simple 3218773 A . Benign/Likely benign 2 6 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -29.1 0.8333333333333334 Benign 1 -221057 Simple 34448402 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 1C;not specified;Charcot-Marie-Tooth, Type 1 2017-07-21 -14.4 1.0 Benign/Likely benign 0 -221060 Simple 864622730 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-13 -6.0 0.5 Likely benign 0 -221061 Simple 864622731 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2016-04-18 -5.7 1.5 Likely benign 0 -221062 Simple 148246073 A . Benign/Likely benign 2 6 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not provided;Hereditary cancer-predisposing syndrome 2017-08-07 -21.0 0.6666666666666666 Benign/Likely benign 0 -221063 Simple 115335683 T . Benign/Likely benign 2 3 Progressive familial heart block type 1B;not specified;Progressive familial heart block 2017-06-14 -15.0 0.6666666666666666 Benign/Likely benign 0 -221064 Simple 369461674 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-12-15 -5.7 1.5 Likely benign 0 -221065 Simple 864622732 A . Pathogenic/Likely pathogenic 2 2 Charcot-Marie-Tooth disease, type I;not provided 2017-01-30 8.4 1.5 Pathogenic/Likely pathogenic 0 -221066 Simple 151273553 T . Uncertain significance 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-04 -1.5 0.2 Uncertain significance 0 -221071 Simple 864622735 TCCC . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -221072 Simple 145551486 C . Likely benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-07 -9.0 0.3333333333333333 Benign/Likely benign 1 -221076 Simple 144513891 C . Uncertain significance 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -221077 Simple 35632007 T . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-21 -9.0 1.0 Benign/Likely benign 0 -221082 Simple 864622741 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -221083 Simple 5744991 T . Benign/Likely benign 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-21 -26.4 0.8 Benign 1 -221084 Simple 114882905 A . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-01 -17.4 1.0 Benign/Likely benign 0 -221086 Simple 864622742 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-02-16 -0.5700000000000001 1.5 Uncertain significance 0 -221087 Simple 143454689 T . Benign/Likely benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -12.0 0.3333333333333333 Benign/Likely benign 0 -221088 Simple 864622743 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-09-04 -0.5700000000000001 1.5 Uncertain significance 0 -221090 Simple 864622744 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 1C;not specified 2016-06-26 -0.5700000000000001 1.5 Uncertain significance 0 -221092 Simple 55849827 A . Benign/Likely benign 2 4 Fanconi anemia;not specified;not provided 2017-07-19 -14.4 1.0 Benign/Likely benign 0 -221093 Simple 864622745 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-09-20 -0.6 0.5 Uncertain significance 0 -221094 Simple 375931088 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -221096 Simple 3812602 A . Benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-25 -12.0 0.0 Benign/Likely benign 1 -221098 Simple 62637628 A . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-11 -15.0 0.75 Benign/Likely benign 0 -221099 Simple 138240178 A . Benign/Likely benign 2 4 Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-15 -18.0 0.75 Benign/Likely benign 0 -221100 Simple 864622747 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-11-05 -5.4 2.0 Likely benign 0 -221101 Simple 142498442 T . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-08-08 -12.0 0.6666666666666666 Benign/Likely benign 0 -221102 Simple 587781591 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-09-19 -0.5700000000000001 1.5 Uncertain significance 0 -221103 Simple 5744823 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12 2017-08-10 -18.0 0.25 Benign/Likely benign 0 -221104 Simple 5744950 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-10 -17.7 0.5 Benign/Likely benign 0 -221105 Simple 5744971 C . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-31 -17.7 0.5 Benign/Likely benign 0 -221106 Simple 5744973 A . Benign 2 6 not specified;not provided;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-11 -35.4 1.0 Benign 0 -221108 Simple 864622749 C . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-03 -0.8999999999999999 1.0 Uncertain significance 0 -221109 Simple 193025205 A . Likely benign 2 6 Parathyroid carcinoma;Hyperparathyroidism 2;not specified;not provided;Isolated Hyperparathyroidism 2017-06-02 -18.0 0.8333333333333334 Benign/Likely benign 1 -221110 Simple 864622750 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2015-11-05 -0.54 2.0 Uncertain significance 0 -221112 Simple 864622751 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -221114 Simple 864622752 - . Benign/Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-08-01 -9.0 0.0 Benign/Likely benign 0 -221118 Simple 864622755 - . Likely benign 2 2 Lynch syndrome;not specified 2016-10-14 -5.7 1.5 Likely benign 0 -221120 Simple 763871536 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-11 -8.7 1.0 Benign/Likely benign 1 -221122 Simple 864622756 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-06-07 -5.7 1.5 Likely benign 0 -221123 Simple 747441460 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-30 -0.87 1.0 Uncertain significance 0 -221124 Simple 752652869 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-10 -0.87 1.0 Uncertain significance 0 -221127 Simple 1805366 T . Benign/Likely benign 2 3 Ataxia-telangiectasia-like disorder 1 2017-08-04 -15.0 0.6666666666666666 Benign/Likely benign 0 -221128 Simple 112712209 T . Benign/Likely benign 2 4 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -18.0 0.75 Benign/Likely benign 0 -221129 Simple 763704682 AAAA . Benign 2 2 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -221130 Simple 145324823 T . Benign/Likely benign 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -20.7 0.6 Benign/Likely benign 0 -221133 Simple 72549296 A . Benign/Likely benign 2 1 Gastrointestinal stromal tumor;not specified 2017-08-07 . 0.0 . 0 -221134 Simple 864622758 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.17 1.0 Uncertain significance 0 -221136 Simple 41554817 A . Uncertain significance 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.5 0.4 Uncertain significance 0 -221137 Simple 751729752 - . Benign/Likely benign 2 2 Neurofibromatosis, type 1;not specified 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -221138 Simple 137953986 A . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome;Colon cancer 2017-08-17 -14.7 0.75 Benign/Likely benign 0 -221141 Simple 139297659 A . Benign/Likely benign 2 2 not specified;Cowden syndrome 6 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -221142 Simple 863224566 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -0.87 1.0 Uncertain significance 0 -221143 Simple 116076060 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-11 -14.7 0.75 Benign/Likely benign 0 -221144 Simple 764478569 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-11-08 -0.84 1.3333333333333333 Uncertain significance 0 -221145 Simple 75135381 T . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12 2017-08-08 -18.0 0.5 Benign/Likely benign 0 -221147 Simple 864622761 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-01 -8.7 0.6666666666666666 Benign/Likely benign 1 -221149 Simple 72549293 T . Benign/Likely benign 2 4 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism;not specified 2017-08-11 -15.0 0.75 Benign/Likely benign 0 -221151 Simple 11556091 G . Benign/Likely benign 2 2 Lynch syndrome;not specified;MLH3-Related Lynch Syndrome 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -221152 Simple 8105725 G . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -17.4 0.75 Benign/Likely benign 0 -221154 Simple 370219784 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-14 -0.6 0.0 Uncertain significance 0 -221156 Simple 369633360 C . Benign/Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -11.4 0.6666666666666666 Benign/Likely benign 0 -221157 Simple 150564856 C . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-22 -0.87 0.6666666666666666 Uncertain significance 0 -221160 Simple 864622764 C . Likely benign 2 2 Fanconi anemia;not specified 2017-01-31 -6.0 1.0 Likely benign 0 -221161 Simple 587781461 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-07-28 -0.5700000000000001 1.5 Uncertain significance 0 -221163 Simple 3218772 T . Benign 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -29.4 1.0 Benign 0 -221164 Simple 864622765 A . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -8.7 1.3333333333333333 Benign/Likely benign 1 -221165 Simple 45605236 T . Benign/Likely benign 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -26.4 0.8 Benign 1 -221166 Simple 76131127 T . Benign/Likely benign 2 3 Colorectal cancer 10;not specified 2017-08-10 -12.0 0.3333333333333333 Benign/Likely benign 0 -221167 Simple 5744834 A . Benign 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-14 -28.8 1.2 Benign 0 -221171 Simple 376236497 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-01-30 -0.5700000000000001 1.5 Uncertain significance 0 -221172 Simple 764156081 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2016-08-22 -8.4 1.6666666666666667 Benign/Likely benign 1 -221174 Simple 34033771 G . Benign/Likely benign 2 2 Hereditary diffuse gastric cancer;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -221175 Simple 73155056 A . Benign/Likely benign 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-07 -20.4 1.0 Benign/Likely benign 0 -221178 Simple 769154205 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -0.87 0.6666666666666666 Uncertain significance 0 -221179 Simple 5744799 T . Benign 2 6 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-18 -34.2 1.1666666666666667 Benign 0 -221180 Simple 61751177 T . Benign/Likely benign 2 4 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -18.0 0.75 Benign/Likely benign 0 -221181 Simple 5030874 C . Benign/Likely benign 2 2 Hereditary diffuse gastric cancer 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -221182 Simple 34047482 A . Benign 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-14 -28.8 1.2 Benign 0 -221184 Simple 17880604 G . Benign 2 3 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified 2016-04-05 -16.8 1.6666666666666667 Benign/Likely benign 1 -221185 Simple 55853803 T . Benign 2 1 Charcot-Marie-Tooth disease, type IV;not specified 2017-08-10 . 0.0 . 0 -221187 Simple 587779828 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-25 -0.5700000000000001 1.5 Uncertain significance 0 -221188 Simple 41295942 T . Benign/Likely benign 2 2 not specified;Hereditary hemochromatosis 2017-07-03 -9.0 0.5 Benign/Likely benign 0 -221190 Simple 7156297 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -221191 Simple 74050429 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -221196 Simple 79449551 C . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-04 . 0.0 . 0 -221197 Simple 191011620 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -221198 Simple 115200161 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-06 . 0.0 . 0 -221199 Simple 72655973 C . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -221278 Simple 869025212 - . Pathogenic 2 4 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome;BAP1 Cancer Syndrome 2017-03-06 23.4 1.0 Pathogenic 0 -221281 Simple 772180415 A . Pathogenic/Likely pathogenic 2 2 Tay-Sachs disease 2016-11-02 6.0 3.5 Likely pathogenic 1 -221620 Simple 886040557 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Carcinoma of colon;Hereditary cancer-predisposing syndrome 2016-10-18 20.7 1.25 Pathogenic 0 -221621 Simple 1057519365 - . Pathogenic/Likely pathogenic 2 4 Carcinoma of colon;not provided;Hereditary cancer-predisposing syndrome 2017-05-12 17.7 0.75 Pathogenic 1 -221911 Simple 778031266 A . Pathogenic/Likely pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-09 8.4 1.0 Pathogenic/Likely pathogenic 0 -221914 Simple 375699023 A . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-07-28 11.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -221939 Simple 201620755 T . Likely benign 2 2 Adams-Oliver syndrome 5;Anophthalmia - microphthalmia 2017-03-27 -4.8 2.5 Likely benign 0 -221952 Simple 142775128 T . Benign/Likely benign 2 4 not specified;Holoprosencephaly;Anophthalmia - microphthalmia 2016-09-21 -13.200000000000001 2.25 Benign/Likely benign 0 -222076 Simple 727504424 A . Likely benign 3 3 Costello syndrome;Rasopathy 2017-04-18 -9.51 1.3333333333333333 Benign/Likely benign 1 -222112 Simple 2071228 A . Benign 2 1 not specified 2015-07-22 . 2.0 . 0 -222145 Simple 869312227 T . Pathogenic 2 2 Fabry disease;not provided 2016-12-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -222477 Simple 869025349 ATTT . Uncertain significance 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1O;Arrhythmogenic right ventricular dysplasia 2017-05-05 -0.87 1.0 Uncertain significance 0 -222482 Simple 869025354 G . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2015-11-24 -0.54 2.0 Uncertain significance 0 -222483 Simple 869025355 C . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -222484 Simple 780431842 A . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy 2016-11-14 -0.5700000000000001 1.5 Uncertain significance 0 -222497 Simple 148405740 G . Uncertain significance 2 3 Long QT syndrome;Brugada syndrome;not specified 2017-07-06 -0.87 1.0 Uncertain significance 0 -222498 Simple 199527708 A . Uncertain significance 2 2 not specified;Cardiac arrest 2017-06-21 -0.54 1.5 Uncertain significance 0 -222511 Simple 754615028 G . Uncertain significance 2 2 Myofibrillar myopathy, BAG3-related;Primary familial hypertrophic cardiomyopathy;Dilated cardiomyopathy 1HH 2016-12-25 -0.5700000000000001 1.5 Uncertain significance 0 -222513 Simple 869025366 T . Pathogenic 2 2 Primary pulmonary hypertension;not provided 2015-08-31 10.8 2.0 Pathogenic/Likely pathogenic 1 -222538 Simple 751471841 T . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;Arrhythmogenic right ventricular dysplasia, familial, 13 2017-07-24 -0.54 1.5 Uncertain significance 0 -222542 Simple 144908941 A . Uncertain significance 2 3 Primary familial hypertrophic cardiomyopathy;not specified 2016-10-12 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -222546 Simple 750349613 T . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2015-12-02 -0.54 2.0 Uncertain significance 0 -222548 Simple 760516307 A . Uncertain significance 2 2 not specified;Left ventricular noncompaction cardiomyopathy 2015-12-04 -0.51 2.5 Uncertain significance 0 -222550 Simple 758404687 - . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy;Duchenne muscular dystrophy;not specified 2016-10-01 -0.87 1.3333333333333333 Uncertain significance 0 -222577 Simple 374263890 A . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ventricular fibrillation 2017-05-12 -0.54 1.5 Uncertain significance 0 -222581 Simple 144392839 T . Uncertain significance 2 7 Primary dilated cardiomyopathy;Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-05-03 -2.04 1.1428571428571428 Uncertain significance 0 -222582 Simple 869025395 T . Pathogenic/Likely pathogenic 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy;not provided 2017-06-08 14.7 1.0 Pathogenic/Likely pathogenic 0 -222587 Simple 869025397 A . Uncertain significance 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Primary familial hypertrophic cardiomyopathy;not specified 2016-07-10 -0.81 2.0 Uncertain significance 0 -222596 Simple 749109824 A . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2016-11-17 -0.5700000000000001 1.5 Uncertain significance 0 -222617 Simple 869025418 C . Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-06-13 5.7 1.0 Likely pathogenic 0 -222626 Simple 780589159 T . Uncertain significance 2 3 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-27 -0.87 1.0 Uncertain significance 0 -222648 Simple 376631391 T . Uncertain significance 2 2 not specified;Cardiac arrest 2015-11-16 -0.54 2.0 Uncertain significance 0 -222651 Simple 146519482 C . Uncertain significance 2 2 Hemochromatosis type 1;Hereditary hemochromatosis 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -222652 Simple 869025437 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-08-10 -0.5700000000000001 1.0 Uncertain significance 0 -222661 Simple 139496777 G . Uncertain significance 2 2 Primary dilated cardiomyopathy;Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12 2016-07-02 -0.5700000000000001 1.5 Uncertain significance 0 -222688 Simple 869025453 - . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia;not provided 2017-08-02 35.4 0.6666666666666666 Pathogenic 1 -222689 Simple 869025454 - . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.7 1.5 Pathogenic/Likely pathogenic 0 -222710 Simple 869025469 G . Pathogenic/Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2016-06-16 8.7 1.5 Pathogenic/Likely pathogenic 0 -222726 Simple 397516195 G . Uncertain significance 2 2 not specified;Left ventricular noncompaction cardiomyopathy 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -222729 Simple 750987717 T . Uncertain significance 2 2 not specified;First degree atrioventricular block 2016-07-26 -0.5700000000000001 1.5 Uncertain significance 0 -222731 Simple 45464193 T . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy 2017-02-06 -0.87 1.3333333333333333 Uncertain significance 0 -222732 Simple 765068619 A . Uncertain significance 2 8 Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;Myopathy, distal, 1;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-07-16 -2.37 1.0 Uncertain significance 0 -222750 Simple 571563897 T . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2017-05-03 -0.5700000000000001 1.0 Uncertain significance 0 -222753 Simple 370195451 C . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;Cardiovascular phenotype 2015-10-09 -0.54 2.0 Uncertain significance 0 -222770 Simple 762111172 C . Uncertain significance 2 4 Glycogen storage disease of heart, lethal congenital;Primary familial hypertrophic cardiomyopathy;Wolff-Parkinson-White syndrome;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -1.17 1.25 Uncertain significance 0 -222774 Simple 869025501 A . Likely pathogenic 2 2 Primary familial hypertrophic cardiomyopathy;not provided 2017-05-05 5.4 1.5 Likely pathogenic 0 -222788 Simple 869025511 A . Uncertain significance 2 3 Primary familial hypertrophic cardiomyopathy;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -222789 Simple 376389213 A . Uncertain significance 2 2 Heart disease;Catecholaminergic polymorphic ventricular tachycardia 2016-09-26 -0.5700000000000001 1.5 Uncertain significance 0 -222798 Simple 869025516 - . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2016-11-17 -0.54 2.0 Uncertain significance 0 -222807 Simple 566251672 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;Brugada syndrome 2016-01-01 -0.54 2.0 Uncertain significance 0 -222808 Simple 869025520 A . Pathogenic/Likely pathogenic 2 2 Brugada syndrome;not provided 2017-02-08 8.7 1.5 Pathogenic/Likely pathogenic 0 -222810 Simple 746291609 T . Uncertain significance 2 8 Primary dilated cardiomyopathy;Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -2.34 1.25 Uncertain significance 0 -222817 Simple 367721665 T . Uncertain significance 2 7 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome;Skeletal myopathy 2017-07-25 -2.07 1.0 Uncertain significance 0 -222831 Simple 762850913 A . Uncertain significance 2 4 not specified;not provided;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype 2017-09-08 -1.1400000000000001 1.25 Uncertain significance 0 -222835 Simple 869025534 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;Loeys-Dietz syndrome 4 2016-01-07 -0.51 2.5 Uncertain significance 0 -222840 Simple 769969149 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 5;Primary dilated cardiomyopathy 2016-01-17 -0.54 2.0 Uncertain significance 0 -222861 Simple 869025545 A . Likely pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G 2017-01-12 8.1 2.0 Likely pathogenic 0 -222870 Simple 781363456 - . Uncertain significance 2 2 Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy 2015-06-30 -0.51 2.5 Uncertain significance 0 -222885 Simple 759374389 T . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2016-12-20 -0.5700000000000001 1.5 Uncertain significance 0 -222905 Simple 879253822 T . Pathogenic 2 1 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided 2017-10-23 . 0.0 . 0 -222906 Simple 879253823 CC . Pathogenic 2 1 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-03-03 . 2.0 . 0 -222943 Simple 879253852 A . Pathogenic 2 1 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided 2016-09-08 . 1.0 . 0 -223232 Simple 561874453 G . Uncertain significance 2 2 Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-11 -0.6 0.0 Uncertain significance 0 -223256 Simple 368219776 T . Uncertain significance 2 4 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not specified 2017-07-07 -1.08 1.75 Uncertain significance 0 -223266 Simple 869312037 - . Likely pathogenic 2 2 Primary dilated cardiomyopathy 2015-05-20 5.1 2.5 Likely pathogenic 0 -223295 Simple 770038577 A . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Cardiovascular phenotype 2017-07-17 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -223302 Simple 769407533 - . Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-10-25 5.4 1.5 Likely pathogenic 0 -223309 Simple 869312070 T . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2015-05-27 7.800000000000001 2.5 Likely pathogenic 1 -223324 Simple 869312081 - . Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2017-08-01 5.4 1.5 Likely pathogenic 0 -223326 Simple 72648250 A . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2018-01-23 8.4 1.5 Pathogenic/Likely pathogenic 0 -223329 Simple 869312085 A . Likely pathogenic 2 2 Primary dilated cardiomyopathy;Cardiovascular phenotype 2017-08-22 5.4 1.5 Likely pathogenic 0 -223333 Simple 770579313 A . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2016-02-08 -0.51 2.5 Uncertain significance 0 -223345 Simple 767420661 C . Uncertain significance 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J 2017-05-24 -0.54 1.5 Uncertain significance 0 -223347 Simple 869312099 T . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2016-03-29 -0.54 2.0 Uncertain significance 0 -223350 Simple 749931280 A . Uncertain significance 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J 2016-10-03 -0.54 2.0 Uncertain significance 0 -223360 Simple 150954246 A . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2016-03-02 -0.51 2.5 Uncertain significance 0 -223383 Simple 774604740 TT . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;not provided 2017-08-23 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -223386 Simple 869312118 A . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G 2016-11-30 8.4 2.0 Pathogenic/Likely pathogenic 0 -223387 Simple 869312119 A . Likely pathogenic 2 2 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G 2017-05-07 5.4 1.5 Likely pathogenic 0 -223390 Simple 869312122 A . Likely pathogenic 2 2 Primary dilated cardiomyopathy;Limb-girdle muscular dystrophy, type 2J 2017-08-09 5.4 1.5 Likely pathogenic 0 -223583 Simple 11571718 C . Benign/Likely benign 2 1 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2016-04-21 . 1.0 . 0 -224064 Simple 2741919 T . Likely benign 2 1 Familial Mediterranean fever 2016-06-14 . 1.0 . 0 -224065 Simple 2741918 T . Likely benign 2 1 Familial Mediterranean fever 2016-06-14 . 1.0 . 0 -224066 Simple 2075849 T . Likely benign 2 1 Familial Mediterranean fever 2016-06-14 . 1.0 . 0 -224083 Simple 869312666 C . Pathogenic 2 2 not provided;Smith-Kingsmore syndrome 2017-09-05 10.8 1.5 Pathogenic/Likely pathogenic 1 -224118 Simple 369160589 G . Likely pathogenic 2 2 Congenital disorder of glycosylation type 1K;not provided 2017-02-09 6.0 1.0 Likely pathogenic 0 -224144 Simple 869312704 GGCTGCAGGCTGCA . Likely pathogenic 2 2 not provided;Intellectual disability;Neurodevelopmental disorder 2016-02-09 5.4 2.0 Likely pathogenic 0 -224154 Simple 869312708 T . Pathogenic/Likely pathogenic 2 2 Mental retardation, autosomal dominant 7;not provided 2016-02-25 8.100000000000001 2.0 Likely pathogenic 1 -224321 Simple 267608216 - . Pathogenic 2 3 Peroxisome biogenesis disorder 4a (zellweger);Peroxisome biogenesis disorder 4B;Heimler syndrome 2 2016-07-05 17.4 1.3333333333333333 Pathogenic 0 -224348 Simple 145186308 A . Uncertain significance 2 1 Renal adysplasia 2016-06-14 . 1.0 . 0 -224354 Simple 140638866 T . Uncertain significance 2 1 Multiple endocrine neoplasia, type 2;Congenital anomalies of kidney and urinary tract 2017-07-28 . 0.0 . 0 -224362 Simple 145771708 T . Uncertain significance 2 6 Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;RYR1-Related Disorders 2016-08-11 -1.71 1.5 Uncertain significance 0 -224377 Simple 748568687 T . Uncertain significance 2 7 Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;Inborn genetic diseases;RYR1-Related Disorders 2017-06-19 -1.92 1.7142857142857142 Uncertain significance 0 -224383 Simple 369167120 T . Uncertain significance 2 2 Malignant hyperthermia, susceptibility to, 1;not specified 2017-07-14 -0.51 2.0 Uncertain significance 0 -224387 Simple 199870223 T . Uncertain significance 2 2 Malignant hyperthermia, susceptibility to, 1;not specified 2017-07-07 -0.51 2.0 Uncertain significance 0 -224400 Simple 138593495 T . Uncertain significance 2 3 Malignant hyperthermia, susceptibility to, 1;not specified;RYR1-Related Disorders 2017-09-18 -0.8099999999999999 1.3333333333333333 Uncertain significance 0 -224403 Simple 73933023 T . Benign/Likely benign 2 9 Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders 2017-08-04 -32.1 1.1111111111111112 Benign 1 -224406 Simple 201712715 G . Uncertain significance 2 2 Malignant hyperthermia, susceptibility to, 1;RYR1-Related Disorders 2017-01-27 -0.51 2.5 Uncertain significance 0 -224407 Simple 199866740 T . Uncertain significance 2 2 Malignant hyperthermia, susceptibility to, 1;RYR1-Related Disorders 2017-01-27 -0.51 2.5 Uncertain significance 0 -224426 Simple 397508940 C . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Neoplasm of the breast 2015-11-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -224427 Simple 587781632 C . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Neoplasm of the breast 2015-11-01 8.100000000000001 2.0 Likely pathogenic 1 -224429 Simple 775477245 G . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-29 -9.27 1.0 Benign/Likely benign 1 -224432 Simple 886037791 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Neoplasm of the breast 2017-06-29 -3.57 1.0 Uncertain significance 2 -224433 Simple 876658221 G . Uncertain significance 2 2 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-12-01 -0.54 2.0 Uncertain significance 0 -224436 Simple 886037794 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-29 -6.57 1.0 Likely benign 0 -224438 Simple 886037796 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.25 Pathogenic 0 -224444 Simple 886037802 T . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast 2017-06-21 11.4 1.0 Pathogenic/Likely pathogenic 1 -224448 Simple 771203198 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast 2016-10-18 23.4 1.25 Pathogenic 0 -224450 Simple 81002796 C . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-03-04 13.5 2.0 Pathogenic/Likely pathogenic 0 -224451 Simple 397508045 T . Uncertain significance 2 2 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-07-28 -0.5700000000000001 1.5 Uncertain significance 0 -224452 Simple 201523522 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-29 -12.27 1.2 Benign/Likely benign 1 -224455 Simple 80358414 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-15 -1.17 1.0 Uncertain significance 0 -224456 Simple 876659050 G . Uncertain significance 2 2 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-11-01 -0.54 2.0 Uncertain significance 0 -224459 Simple 886037807 G . Uncertain significance 2 2 not specified;Neoplasm of the breast 2015-11-01 -0.51 2.5 Uncertain significance 0 -224465 Simple 779967765 T . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-06-07 -1.44 1.2 Uncertain significance 0 -224467 Simple 886037813 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Neoplasm of the breast 2017-06-29 -3.57 1.0 Uncertain significance 2 -224468 Simple 886037814 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast 2017-03-23 -0.5700000000000001 1.0 Uncertain significance 0 -224470 Simple 767555621 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Neoplasm of the breast 2017-06-29 -3.57 1.0 Uncertain significance 2 -224471 Simple 766080516 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Neoplasm of the breast 2017-06-29 -3.57 1.0 Uncertain significance 2 -224478 Simple 397507568 G . Uncertain significance 2 2 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-08-01 -0.5700000000000001 1.5 Uncertain significance 0 -224515 Simple 869312753 T . Pathogenic 2 1 Colorectal cancer, susceptibility to;Familial adenomatous polyposis 2015-11-20 . 2.0 . 0 -224517 Simple 869312754 T . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-13 5.7 1.5 Likely pathogenic 0 -224518 Simple 869312755 T . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-17 20.7 0.8 Pathogenic 1 -224519 Simple 869312756 T . Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-02-05 8.100000000000001 2.0 Likely pathogenic 0 -224523 Simple 869312759 - . Pathogenic 2 2 Breast-ovarian cancer, familial 1;not provided 2016-01-25 10.8 2.0 Pathogenic/Likely pathogenic 1 -224527 Simple 869312763 C . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-06-15 5.7 1.5 Likely pathogenic 0 -224528 Simple 863224505 - . Pathogenic 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2015-11-20 15.600000000000001 2.3333333333333335 Pathogenic 0 -224534 Simple 869312769 - . Pathogenic/Likely pathogenic 2 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-30 23.4 1.0 Pathogenic 1 -224535 Simple 869312770 - . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-11-20 10.8 2.0 Pathogenic/Likely pathogenic 1 -224539 Simple 515726086 - . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-11-20 8.100000000000001 2.0 Likely pathogenic 1 -224540 Simple 869312774 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2015-11-20 10.2 2.5 Pathogenic/Likely pathogenic 1 -224553 Simple 869312784 G . Uncertain significance 2 3 Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-06 -0.87 1.0 Uncertain significance 0 -224554 Simple 869312785 G . Uncertain significance 2 2 Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1 2015-11-20 -0.54 2.0 Uncertain significance 0 -224556 Simple 869312787 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1 2017-02-21 -0.5700000000000001 1.5 Uncertain significance 0 -224562 Simple 753859240 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -1.17 0.75 Uncertain significance 0 -224563 Simple 869312791 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-07-18 -0.5700000000000001 1.5 Uncertain significance 0 -224577 Simple 747504492 C . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-04 -1.47 0.8 Uncertain significance 0 -224578 Simple 869312797 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-01 -1.17 0.75 Uncertain significance 0 -224579 Simple 767658494 T . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-24 -1.17 1.25 Uncertain significance 0 -224581 Simple 869312798 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-02-29 -0.54 2.0 Uncertain significance 0 -224582 Simple 772514245 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-07 -0.5700000000000001 1.5 Uncertain significance 0 -224584 Simple 869312800 T . Uncertain significance 2 2 Lynch syndrome 2015-12-25 -0.54 2.0 Uncertain significance 0 -224585 Simple 869312801 C . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 -1.17 1.0 Uncertain significance 0 -224586 Simple 869312802 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-05 -0.5700000000000001 1.5 Uncertain significance 0 -224587 Simple 757186755 C . Uncertain significance 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-10 -1.17 0.75 Uncertain significance 0 -224588 Simple 138207610 A . Uncertain significance 2 4 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-21 -1.17 1.0 Uncertain significance 0 -224590 Simple 869312803 C . Uncertain significance 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-22 -1.47 0.8 Uncertain significance 0 -224616 Simple 758194385 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 8.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -224685 Simple 878854386 A . Uncertain significance 2 3 not specified 2016-08-29 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -224687 Simple 147182340 A . Uncertain significance 2 2 not specified 2016-08-08 -0.5700000000000001 1.5 Uncertain significance 0 -224729 Simple 771466122 T . Pathogenic 2 2 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency;Glutaric aciduria, type 2;not provided 2017-09-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -224818 Simple 869312868 T . Pathogenic/Likely pathogenic 2 2 Mental retardation, autosomal dominant 6;not provided 2017-03-20 8.7 1.0 Pathogenic/Likely pathogenic 0 -224822 Simple 869312871 T . Pathogenic/Likely pathogenic 2 2 not provided;Cerebral visual impairment and intellectual disability;Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2018-01-08 5.7 1.0 Likely pathogenic 1 -224844 Simple 869312888 T . Pathogenic/Likely pathogenic 2 2 not provided;Autoimmune disease, multisystem, infantile-onset, 1 2017-04-11 7.8 1.5 Likely pathogenic 1 -224848 Simple 869312892 A . Pathogenic 2 3 not provided;Autoimmune disease, multisystem, infantile-onset, 1 2016-06-14 15.6 2.3333333333333335 Pathogenic 0 -224868 Simple 869312901 C . Pathogenic/Likely pathogenic 2 1 Shprintzen-Goldberg syndrome;not provided 2017-06-02 . 0.0 . 0 -224872 Simple 869312903 T . Pathogenic/Likely pathogenic 2 1 Loeys-Dietz syndrome 4;not provided 2016-10-27 . 1.0 . 0 -224883 Simple 869312911 C . Pathogenic 2 1 Lehman syndrome;not provided 2016-05-10 . 2.0 . 0 -224924 Simple 1802286 T . Benign 2 1 not specified;Mosaic variegated aneuploidy syndrome 2017-08-10 . 0.0 . 0 -224934 Simple 3218472 A . Benign/Likely benign 2 2 not specified 2017-01-19 -8.7 1.5 Benign/Likely benign 0 -224944 Simple . . . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-04-20 18.6 1.75 Pathogenic 1 -224946 Simple 115061722 C . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-08-02 -14.4 1.0 Benign/Likely benign 0 -224948 Simple 149875171 A . Likely benign 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -8.4 1.0 Benign/Likely benign 1 -224949 Simple 6960 T . Benign/Likely benign 2 5 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -19.2 1.6 Benign/Likely benign 0 -224952 Simple 187964306 A . Benign/Likely benign 2 8 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-10-13 -32.1 1.0 Benign 1 -224953 Simple 34771391 T . Benign/Likely benign 2 6 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-12-03 -26.4 0.8333333333333334 Benign 1 -224954 Simple 35964044 T . Benign/Likely benign 2 5 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-11-25 -21.0 0.6 Benign/Likely benign 0 -224955 Simple 11557098 T . Benign/Likely benign 2 6 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-11-19 -27.0 0.6666666666666666 Benign 1 -224956 Simple 34779890 T . Benign/Likely benign 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -12.0 0.0 Benign/Likely benign 0 -224957 Simple 34635677 T . Benign/Likely benign 2 5 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-11-19 -21.0 0.6 Benign/Likely benign 0 -224970 Simple 869312985 A . Pathogenic/Likely pathogenic 2 1 Argininosuccinate lyase deficiency;not provided 2016-09-09 . 1.0 . 0 -224998 Simple 111436401 A . Pathogenic/Likely pathogenic 2 2 not provided;Inborn genetic diseases 2017-09-08 8.1 2.0 Likely pathogenic 1 -225008 Simple 773432002 G . Pathogenic/Likely pathogenic 2 2 not provided;Inborn genetic diseases;Mental retardation, autosomal recessive 58;ELP2-Related Disorders 2017-06-07 7.2 2.0 Likely pathogenic 1 -225010 Simple 768933093 A . Pathogenic 2 2 Bardet-Biedl syndrome;Bardet-Biedl syndrome 10;Inborn genetic diseases 2017-01-24 12.0 1.0 Pathogenic/Likely pathogenic 1 -225030 Simple 199874519 A . Likely pathogenic 2 2 not provided;Inborn genetic diseases 2017-01-13 5.1 2.5 Likely pathogenic 0 -225038 Simple 767713084 T . Pathogenic/Likely pathogenic 2 2 not provided;Inborn genetic diseases;Mental retardation, autosomal recessive 58 2016-07-05 7.2 2.5 Likely pathogenic 1 -225042 Simple 35267264 A . Uncertain significance 2 2 not provided;Inborn genetic diseases 2016-04-21 -0.48 3.0 Uncertain significance 0 -225044 Simple 869312937 C . Uncertain significance 2 1 not specified;Inborn genetic diseases 2017-10-09 . 0.0 . 0 -225048 Simple 749272546 - . Pathogenic 2 3 not provided;Inborn genetic diseases 2017-09-22 16.2 1.3333333333333333 Pathogenic 0 -225099 Simple 761591158 T . Uncertain significance 2 2 Hypertrophic cardiomyopathy;Inborn genetic diseases 2017-06-28 -0.6 0.0 Uncertain significance 0 -225101 Simple 201519600 G . Uncertain significance 2 1 not provided;Inborn genetic diseases 2017-05-31 . 0.0 . 0 -225102 Simple 2307109 A . Uncertain significance 2 1 not specified;Inborn genetic diseases 2017-04-28 . 0.0 . 0 -225104 Simple 373709706 T . Uncertain significance 2 2 not specified;Inborn genetic diseases 2016-09-07 -0.48 3.0 Uncertain significance 0 -225111 Simple 142378871 C . Uncertain significance 2 2 Inborn genetic diseases;Primary Microcephaly, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -225182 Simple 869320651 A . Likely pathogenic 2 4 Familial hypercholesterolemia 2016-11-05 11.7 1.25 Pathogenic/Likely pathogenic 1 -225183 Simple 869320652 T . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia;not provided 2017-09-01 27.0 0.6 Pathogenic 1 -225195 Simple 869320659 A . Pathogenic 2 2 X-linked severe combined immunodeficiency;not provided 2017-01-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -225196 Simple 869320660 T . Pathogenic 2 2 X-linked severe combined immunodeficiency;not provided 2017-06-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -225201 Simple 116855232 T . drug response 3 0 Thiopurines, poor metabolism of, 2;azathioprine response - Dosage, Toxicity/ADR;mercaptopurine response - Dosage, Toxicity/ADR . . . . 0 -225281 Simple 140662085 A . Benign/Likely benign 2 5 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-15 -17.7 1.0 Benign/Likely benign 0 -225286 Simple 367719489 T . Uncertain significance 2 2 Gastrointestinal stromal tumor;Gastrointestinal stromal tumor, familial 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -225287 Simple 746690413 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7 2017-08-16 -0.5700000000000001 1.0 Uncertain significance 0 -225288 Simple 147911699 T . Uncertain significance 2 6 Colorectal cancer 10;Carcinoma of colon;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.74 1.0 Uncertain significance 0 -225306 Simple 886040154 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 15.0 1.3333333333333333 Pathogenic 0 -225313 Simple 149101394 G . Benign/Likely benign 2 7 Atypical hemolytic uremic syndrome;Complement component 2 deficiency;not specified;not provided;Complement factor B deficiency;Macular degeneration 2017-02-09 -27.0 1.0 Benign 1 -225314 Simple 45484591 C . Likely benign 2 3 Atypical hemolytic uremic syndrome;Complement factor B deficiency;Macular degeneration 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -225333 Simple 72549382 A . Uncertain significance 2 2 Glaucoma, congenital;not specified 2016-05-17 -0.6 1.0 Uncertain significance 0 -225341 Simple 1060501460 - . Pathogenic/Likely pathogenic 2 2 Ciliary dyskinesia, primary, 3;Primary ciliary dyskinesia 2016-12-06 9.0 1.0 Pathogenic/Likely pathogenic 0 -225356 Simple 55831697 T . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection 2016-03-18 -0.54 2.0 Uncertain significance 0 -225359 Simple 746763506 T . Pathogenic 2 3 Fukuyama congenital muscular dystrophy;Limb-girdle muscular dystrophy-dystroglycanopathy, type C4;Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4;not provided;Walker-Warburg congenital muscular dystrophy 2016-03-18 16.8 1.6666666666666667 Pathogenic 0 -225360 Simple 761212672 T . Pathogenic 2 2 Ichthyosis vulgaris;not provided 2017-07-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -225407 Simple 80358317 G . Uncertain significance 2 2 Exudative vitreoretinopathy 4;not specified 2016-10-12 -0.6 1.0 Uncertain significance 0 -225412 Simple 184241759 T . Uncertain significance 2 2 Megalencephalic leukoencephalopathy with subcortical cysts 1;not specified 2017-02-10 -0.6 1.0 Uncertain significance 0 -225451 Simple 1085307088 - . Uncertain significance 2 2 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-04-14 -0.6 0.5 Uncertain significance 0 -225469 Simple 139329616 A . Uncertain significance 2 2 Familial hypokalemia-hypomagnesemia 2016-06-14 -0.6 1.0 Uncertain significance 0 -225472 Simple 80338720 - . Pathogenic 2 5 Citrullinemia type II;Neonatal intrahepatic cholestasis caused by citrin deficiency;Citrin deficiency 2017-08-10 28.8 1.2 Pathogenic 0 -225489 Simple 374512193 C . Uncertain significance 2 2 Dystonia 6, torsion;not specified 2016-07-21 -0.6 1.0 Uncertain significance 0 -225505 Simple 189261858 A . Pathogenic 2 2 Hypothyroidism, congenital, nongoitrous, 1;not provided 2016-03-18 11.4 1.5 Pathogenic/Likely pathogenic 1 -225508 Simple 770927552 - . Pathogenic 2 2 Tyrosine kinase 2 deficiency;not provided 2017-10-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -225511 Simple 118163237 A . Uncertain significance 2 3 Deficiency of beta-ureidopropionase;not specified;not provided 2017-06-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -225682 Simple 186996510 C . Benign/Likely benign 2 2 Erythrocytosis, familial, 3;Familial erythrocytosis 2017-04-12 -9.0 0.5 Benign/Likely benign 0 -225704 Simple 147856441 - . Benign 3 4 Familial cancer of breast;Breast-ovarian cancer, familial 1;not specified 2016-09-28 -21.0 2.5 Benign/Likely benign 1 -225705 Simple 373413425 - . Benign 2 2 Breast-ovarian cancer, familial 1;not specified 2016-11-04 -10.8 2.0 Benign/Likely benign 1 -225712 Simple 200065709 G . Benign/Likely benign 2 1 Breast-ovarian cancer, familial 2;not specified 2014-11-03 . 3.0 . 0 -225713 Simple 367871824 T . Benign/Likely benign 2 2 Breast-ovarian cancer, familial 2;not specified 2016-05-12 -7.8 2.0 Likely benign 1 -225715 Simple 869320781 - . Pathogenic 2 2 Breast-ovarian cancer, familial 2;not specified 2016-11-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -225717 Simple 869320783 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-09-08 16.8 2.0 Pathogenic 0 -225724 Simple 869320784 G . Likely benign 3 2 Breast-ovarian cancer, familial 2 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -225727 Simple 869320786 - . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-01 12.0 1.0 Pathogenic/Likely pathogenic 1 -225729 Simple 869320788 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.6 0.5 Benign/Likely benign 1 -225730 Simple 431825399 T . Likely benign 3 2 Breast-ovarian cancer, familial 1 2017-06-29 -9.3 0.5 Benign/Likely benign 1 -225731 Simple 869320789 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.17 0.75 Uncertain significance 0 -225733 Simple 869320790 C . Likely benign 3 2 Breast-ovarian cancer, familial 2 2017-06-29 -6.3 0.5 Likely benign 0 -225737 Simple 869320791 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-30 -0.87 1.3333333333333333 Uncertain significance 0 -225738 Simple 753512842 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -1.17 1.0 Uncertain significance 0 -225740 Simple 564197624 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-21 -0.5700000000000001 1.5 Uncertain significance 0 -225741 Simple 80358588 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-08-08 -0.6 1.0 Uncertain significance 0 -225742 Simple 869320793 - . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-04-21 11.4 1.5 Pathogenic/Likely pathogenic 1 -225743 Simple 80358695 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;not specified 2017-04-20 -0.6 0.5 Uncertain significance 0 -225746 Simple 748854546 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -225751 Simple 869320797 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.25 Pathogenic 0 -225755 Simple 869320799 - . Pathogenic 3 8 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 44.4 1.0 Pathogenic 0 -225757 Simple 869320801 - . Likely pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-30 6.0 1.0 Likely pathogenic 0 -225760 Simple 886039763 T . Pathogenic 2 2 not provided;Mental retardation, X-linked, syndromic, Bain type 2017-11-16 12.0 0.0 Pathogenic/Likely pathogenic 1 -225855 Simple 779279139 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-09-20 -1.17 1.25 Uncertain significance 0 -225856 Simple 775193384 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -1.1400000000000001 1.25 Uncertain significance 0 -225858 Simple 875989795 G . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-06-22 -8.4 1.6666666666666667 Benign/Likely benign 1 -225862 Simple 875989797 T . Likely benign 2 3 Familial cancer of breast;not specified 2016-12-15 -8.7 1.3333333333333333 Benign/Likely benign 1 -225863 Simple 45508997 A . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -14.4 1.2 Benign/Likely benign 1 -225883 Simple 875989779 C . Pathogenic 2 2 Pineoblastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2014-11-10 9.6 3.0 Pathogenic/Likely pathogenic 1 -225887 Simple 875989783 T . Pathogenic/Likely pathogenic 2 2 Pineoblastoma;Hereditary cancer-predisposing syndrome 2014-07-15 6.9 3.5 Likely pathogenic 1 -225888 Simple 875989784 - . Pathogenic 2 4 Pineoblastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-21 21.6 1.75 Pathogenic 0 -225936 Simple 10306114 G . drug response 3 0 aspirin response - Efficacy . . . . 0 -225937 Simple 1042713 A . drug response 3 0 salbutamol response - Efficacy;salmeterol response - Efficacy . . . . 0 -225938 Simple 10455872 G . drug response 3 0 HMG CoA reductase inhibitors response - Efficacy . . . . 0 -225939 Simple 1045642 G . drug response 3 0 Non-small cell lung cancer;MDR1 POLYMORPHISM;digoxin response - Other;fentanyl response - Dosage;methadone response - Dosage;morphine response - Dosage;opioids response - Dosage;oxycodone response - Dosage;tramadol response - Dosage;ondansetron response - Efficacy;methotrexate response - Toxicity/ADR;nevirapine response - Toxicity/ADR . . . . 0 -225940 Simple 10497203 C . drug response 3 0 radiotherapy response - Toxicity/ADR . . . . 0 -225941 Simple 1056892 A . drug response 3 0 anthracyclines and related substances response - Toxicity/ADR . . . . 0 -225942 Simple 11212617 A . drug response 3 0 metformin response - Efficacy . . . . 0 -225943 Simple 11568315 . . drug response 3 0 gefitinib response - Efficacy . . . . 0 -225944 Simple 11598702 C . drug response 3 0 gemcitabine response - Other . . . . 0 -225945 Simple 11615 G . drug response 3 1 Xeroderma pigmentosum;carboplatin response - Efficacy, Toxicity/ADR;cisplatin response - Efficacy, Toxicity/ADR;Platinum compounds response - Efficacy, Toxicity/ADR;oxaliplatin response - Efficacy, Toxicity/ADR;platinum response - Efficacy, Toxicity/ADR . . 1.0 . 0 -225946 Simple 12248560 A . drug response 3 0 citalopram response - Metabolism/PK;clopidogrel response - Dosage, Efficacy, Toxicity/ADR;escitalopram response - Metabolism/PK . . . . 0 -225947 Simple 12777823 A . drug response 3 0 warfarin response - Dosage . . . . 0 -225948 Simple 12943590 A . drug response 3 0 metformin response - Efficacy . . . . 0 -225949 Simple 12979860 T . drug response 3 0 peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy;peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy;peginterferon alfa-2b response - Efficacy;boceprevir response - Efficacy;ribavirin response - Efficacy . . . . 0 -225950 Simple 13306278 T . drug response 3 0 Selective serotonin reuptake inhibitors response - Efficacy . . . . 0 -225951 Simple 1346268 C . drug response 3 0 hmg coa reductase inhibitors response - Toxicity/ADR;simvastatin response - Toxicity/ADR . . . . 0 -225952 Simple 1414334 G . drug response 3 0 antipsychotics response - Toxicity/ADR;clozapine response - Toxicity/ADR;risperidone response - Toxicity/ADR . . . . 0 -225953 Simple 145489027 A . drug response 3 0 Ace Inhibitors, Plain response - Toxicity/ADR . . . . 0 -225954 Simple 1517114 G . drug response 3 0 irinotecan response - Toxicity/ADR . . . . 0 -225955 Simple 1532624 A . drug response 3 0 HMG CoA reductase inhibitors response - Efficacy . . . . 0 -225956 Simple 16960228 A . drug response 3 0 hydrochlorothiazide response - Efficacy . . . . 0 -225957 Simple 1719247 T . drug response 3 0 hmg coa reductase inhibitors response - Toxicity/ADR;simvastatin response - Toxicity/ADR . . . . 0 -225958 Simple 17244841 T . drug response 3 0 HMG CoA reductase inhibitors response - Efficacy;pravastatin response - Efficacy;simvastatin response - Efficacy . . . . 0 -225959 Simple 1751034 T . drug response 3 0 tenofovir response - . . . . 0 -225960 Simple 17708472 A . drug response 3 0 warfarin response - Dosage . . . . 0 -225961 Simple 17782313 C . drug response 3 0 antipsychotics response - Toxicity/ADR . . . . 0 -225963 Simple 1799978 C . drug response 3 0 risperidone response - Efficacy . . . . 0 -225964 Simple 1800629 A . drug response 3 0 Tumor necrosis factor alpha (TNF-alpha) inhibitors response - Efficacy;adalimumab response - Efficacy;etanercept response - Efficacy;infliximab response - Efficacy . . . . 0 -225965 Simple 1876828 T . drug response 3 0 budesonide response - Efficacy;corticosteroids response - Efficacy;fluticasone propionate response - Efficacy;fluticasone/salmeterol response - Efficacy;triamcinolone response - Efficacy . . . . 0 -225966 Simple 1902023 C . drug response 3 0 oxazepam response - Other;lorazepam response - Other . . . . 0 -225967 Simple 1954787 C . drug response 3 0 antidepressants response - Efficacy;citalopram response - Efficacy . . . . 0 -225968 Simple 2011425 G . drug response 3 0 lamotrigine response - Other . . . . 0 -225969 Simple 2108622 T . drug response 3 0 acenocoumarol response - Dosage;phenprocoumon response - Dosage;warfarin response - Dosage . . . . 0 -225970 Simple 20455 G . drug response 3 0 atorvastatin response - Efficacy;pravastatin response - Efficacy . . . . 0 -225971 Simple 2232228 G . drug response 3 0 anthracyclines and related substances response - Toxicity/ADR . . . . 0 -225973 Simple 2297480 G . drug response 3 0 Bisphosphonates response - Efficacy . . . . 0 -225975 Simple 2359612 G . drug response 3 0 warfarin response - Dosage . . . . 0 -225976 Simple 25487 C . drug response 3 0 carboplatin response - Efficacy, Toxicity/ADR;cisplatin response - Efficacy, Toxicity/ADR;Platinum compounds response - Efficacy, Toxicity/ADR;oxaliplatin response - Efficacy, Toxicity/ADR;platinum response - Efficacy, Toxicity/ADR . . . . 0 -225977 Simple 264588 A . drug response 3 0 radiotherapy response - Toxicity/ADR . . . . 0 -225978 Simple 264631 G . drug response 3 0 radiotherapy response - Toxicity/ADR . . . . 0 -225979 Simple 264651 G . drug response 3 0 radiotherapy response - Toxicity/ADR . . . . 0 -225983 Simple 2884737 C . drug response 3 0 warfarin response - Dosage . . . . 0 -225984 Simple 28371686 G . drug response 3 0 not provided;warfarin response - Dosage . . . . 0 -225985 Simple 28399499 C . drug response 3 0 efavirenz response - Metabolism/PK;nevirapine response - Other . . . . 0 -225986 Simple 2952768 C . drug response 3 0 buprenorphine response - Dosage;fentanyl response - Dosage;meperidine response - Dosage;morphine response - Dosage;opioids response - Dosage;pentazocine response - Dosage . . . . 0 -225987 Simple 3212986 A . drug response 3 0 cisplatin response - Toxicity/ADR;Platinum compounds response - Toxicity/ADR;platinum response - Toxicity/ADR . . . . 0 -225988 Simple 339097 G . drug response 3 0 warfarin response - Dosage . . . . 0 -225989 Simple 368234815 G . drug response 3 0 peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy . . . . 0 -225991 Simple 3753380 C . drug response 3 0 latanoprost response - Efficacy . . . . 0 -225992 Simple 3813929 T . drug response 3 0 antipsychotics response - Toxicity/ADR;olanzapine response - Toxicity/ADR . . . . 0 -225993 Simple 3832043 - . drug response 3 0 SN-38 response - Other . . . . 0 -225994 Simple 396991 C . drug response 3 1 not specified;cetuximab response - Efficacy;rituximab response - Efficacy;trastuzumab response - Efficacy . . 1.0 . 0 -225995 Simple 4149015 A . drug response 3 0 pravastatin response - Efficacy . . . . 0 -225996 Simple 4149601 A . drug response 3 0 diuretics response - Efficacy;hydrochlorothiazide response - Efficacy . . . . 0 -225997 Simple 4917639 C . drug response 3 0 warfarin response - Dosage . . . . 0 -225998 Simple 4444903 G . drug response 3 1 cetuximab response - Efficacy;Renal Hypomagnesemia, Recessive . . 1.0 . 0 -225999 Simple 4673993 C . drug response 3 0 methotrexate response - Efficacy . . . . 0 -226000 Simple 4693075 C . drug response 3 0 atorvastatin response - Toxicity/ADR;hmg coa reductase inhibitors response - Toxicity/ADR;rosuvastatin response - Toxicity/ADR . . . . 0 -226001 Simple 4713916 G . drug response 3 0 antidepressants response - Efficacy;citalopram response - Efficacy;fluoxetine response - Efficacy;Selective serotonin reuptake inhibitors response - Efficacy;mirtazapine response - Efficacy;paroxetine response - Efficacy;venlafaxine response - Efficacy . . . . 0 -226002 Simple 4803419 T . drug response 3 0 efavirenz response - Metabolism/PK . . . . 0 -226003 Simple 489693 A . drug response 3 0 amisulpride response - Toxicity/ADR;aripiprazole response - Toxicity/ADR;clozapine response - Toxicity/ADR;haloperidol response - Toxicity/ADR;olanzapine response - Toxicity/ADR;paliperidone response - Toxicity/ADR;quetiapine response - Toxicity/ADR;risperidone response - Toxicity/ADR;ziprasidone response - Toxicity/ADR . . . . 0 -226004 Simple 5443 T . drug response 3 0 sildenafil response - Efficacy . . . . 0 -226006 Simple 6065 T . drug response 3 0 not specified;aspirin response - Efficacy . . . . 0 -226007 Simple 6025 C . drug response 3 1 not provided;hormonal contraceptives for systemic use response - Toxicity/ADR . . 0.0 . 0 -226008 Simple 61750900 T . drug response 3 0 nicotine response - Metabolism/PK . . . . 0 -226010 Simple 6432512 T . drug response 3 0 radiotherapy response - Toxicity/ADR . . . . 0 -226011 Simple 6977820 C . drug response 3 0 antipsychotics response - Toxicity/ADR . . . . 0 -226012 Simple 6988229 T . drug response 3 0 salbutamol response - Efficacy . . . . 0 -226013 Simple 716274 G . drug response 3 0 Platinum compounds response - Toxicity/ADR;etoposide response - Toxicity/ADR . . . . 0 -226014 Simple 71647871 T . drug response 3 0 clopidogrel response - Efficacy . . . . 0 -226015 Simple 7196161 A . drug response 3 0 warfarin response - Dosage . . . . 0 -226016 Simple 7294 T . drug response 3 1 acenocoumarol response - Dosage;phenprocoumon response - Dosage;warfarin response - Dosage;Vitamin K-Dependent Clotting Factors . . 1.0 . 0 -226017 Simple 7297610 T . drug response 3 0 hydrochlorothiazide response - Efficacy . . . . 0 -226018 Simple 730012 C . drug response 3 0 aspirin response - Toxicity/ADR . . . . 0 -226019 Simple 746647 G . drug response 3 0 nevirapine response - Toxicity/ADR . . . . 0 -226020 Simple 7582141 T . drug response 3 0 radiotherapy response - Toxicity/ADR . . . . 0 -226021 Simple 776746 T . drug response 3 0 cyclosporine response - Dosage, Metabolism/PK;tacrolimus response due to donor genotype - Dosage, Metabolism/PK;tacrolimus response - Dosage, Metabolism/PK;sirolimus response - Dosage;tacrolimus response - Efficacy . . . . 0 -226022 Simple 7779029 C . drug response 3 0 irinotecan response - Toxicity/ADR . . . . 0 -226023 Simple 7793837 T . drug response 3 0 selective beta-2-adrenoreceptor agonists response - Efficacy;salbutamol response - Efficacy . . . . 0 -226024 Simple 7900194 A . drug response 3 0 warfarin response - Dosage, Toxicity/ADR . . . . 0 -226025 Simple 7997012 G . drug response 3 0 antidepressants response - Efficacy;citalopram response - Efficacy;Selective serotonin reuptake inhibitors response - Efficacy . . . . 0 -226026 Simple 8050894 G . drug response 3 0 warfarin response - Dosage . . . . 0 -226027 Simple 8099917 G . drug response 3 0 interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy;peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy . . . . 0 -226028 Simple 8175347 . . drug response 3 0 SN-38 response - Other;atazanavir and ritonavir response - Toxicity/ADR;irinotecan response - Toxicity/ADR . . . . 0 -226029 Simple 887829 T . drug response 3 0 atazanavir response - Other . . . . 0 -226030 Simple 9923231 A . drug response 3 0 acenocoumarol response - Dosage;phenprocoumon response - Dosage;warfarin response - Dosage;warfarin response - Efficacy;warfarin response - Toxicity/ADR . . . . 0 -226038 Simple 3732485 A . Benign/Likely benign 2 7 Aortic aneurysm, familial thoracic 6;Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -32.1 1.8571428571428572 Benign 1 -226039 Simple 755391704 A . Uncertain significance 2 2 Gorlin syndrome 2017-03-28 -0.5700000000000001 1.0 Uncertain significance 0 -226045 Simple 201769220 A . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -226047 Simple 778275831 A . Uncertain significance 2 4 Colorectal cancer 10;Hereditary cancer-predisposing syndrome;Colorectal cancer 2016-11-08 -1.1400000000000001 1.5 Uncertain significance 0 -226052 Simple 367734665 G . Uncertain significance 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2017-06-29 -0.54 1.5 Uncertain significance 0 -226055 Simple 875989854 G . Likely pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-03-23 5.4 1.5 Likely pathogenic 0 -226060 Simple 866388216 A . Likely pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-11-18 5.1 2.5 Likely pathogenic 0 -226063 Simple 370608001 T . Uncertain significance 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2015-10-01 -0.51 2.5 Uncertain significance 0 -226067 Simple 780510026 G . Uncertain significance 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-11-01 -0.54 2.0 Uncertain significance 0 -226075 Simple 779759347 C . Pathogenic/Likely pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2016-09-29 7.8 2.0 Likely pathogenic 1 -226077 Simple 875989864 TT . Pathogenic/Likely pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-02-24 7.5 2.5 Likely pathogenic 1 -226081 Simple 753627680 A . Uncertain significance 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2017-06-29 -0.54 1.5 Uncertain significance 0 -226084 Simple 370523609 A . Pathogenic/Likely pathogenic 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2016-11-26 10.8 2.0 Pathogenic/Likely pathogenic 0 -226097 Simple 762114560 T . Pathogenic/Likely pathogenic 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2017-10-12 12.9 2.3333333333333335 Pathogenic/Likely pathogenic 0 -226099 Simple 875989872 - . Pathogenic/Likely pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-08-03 7.8 2.0 Likely pathogenic 1 -226104 Simple 875989875 GATTTAGGATTTAG . Pathogenic/Likely pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-06-01 7.8 2.0 Likely pathogenic 1 -226105 Simple 17848065 A . Benign/Likely benign 2 1 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2015-02-20 . 3.0 . 0 -226107 Simple 181322317 G . Benign/Likely benign 2 3 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified 2017-04-28 -13.8 1.3333333333333333 Benign/Likely benign 0 -226109 Simple 875989877 TT . Pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-11-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -226113 Simple 875989878 A . Pathogenic 2 2 Spastic paraplegia 4, autosomal dominant 2017-06-29 11.4 1.0 Pathogenic/Likely pathogenic 1 -226119 Simple 875989883 A . Pathogenic/Likely pathogenic 2 3 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided;Familial Hypophosphatemic Rickets 2017-04-01 13.2 2.0 Pathogenic/Likely pathogenic 0 -226306 Simple 544203837 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -226309 Simple 875989891 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -226311 Simple 875989893 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -226312 Simple 875989894 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-05-26 9.0 0.5 Pathogenic/Likely pathogenic 0 -226313 Simple 771019366 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -226314 Simple 563390335 T . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 0.75 Pathogenic 0 -226315 Simple 875989895 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -226316 Simple 875989896 - . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -226317 Simple 875989897 TT . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 14.7 1.0 Pathogenic/Likely pathogenic 0 -226319 Simple 121908042 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2017-09-12 9.0 0.5 Pathogenic/Likely pathogenic 0 -226320 Simple 769383881 T . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia;not provided 2017-08-08 29.4 0.8 Pathogenic 1 -226322 Simple 875989900 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -226325 Simple 199774121 A . Pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 29.4 1.0 Pathogenic 0 -226328 Simple 875989903 TT . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 0 -226329 Simple 121908027 - . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia;not provided 2017-07-19 32.4 0.8571428571428571 Pathogenic 1 -226331 Simple 875989906 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2016-12-16 15.0 1.0 Pathogenic 1 -226333 Simple 121908029 T . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia;not provided 2017-08-09 39.6 1.2857142857142858 Pathogenic 1 -226334 Simple 875989907 A . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -226336 Simple 875989909 G . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 18.0 0.75 Pathogenic 1 -226337 Simple 11547917 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -226338 Simple 875989910 AT . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -226339 Simple 875989911 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -226340 Simple 875989912 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -226341 Simple 875989913 T . Pathogenic 2 4 Familial hypercholesterolemia 2016-12-16 22.8 1.5 Pathogenic 0 -226342 Simple 769737896 T . Pathogenic 2 8 Familial hypercholesterolemia;not provided 2017-08-25 46.2 1.125 Pathogenic 0 -226346 Simple 875989915 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 1 -226347 Simple 875989916 GTGGGTGG . Pathogenic 2 3 Familial hypercholesterolemia 2017-04-21 17.4 1.0 Pathogenic 0 -226349 Simple 765696008 A . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia 2017-03-30 31.8 1.0 Pathogenic 1 -226351 Simple 121908043 T . Pathogenic/Likely pathogenic 2 6 Familial hypercholesterolemia 2017-03-30 20.1 1.3333333333333333 Pathogenic 1 -226352 Simple 552422789 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 1 -226354 Simple 875989919 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2017-06-08 6.0 0.5 Likely pathogenic 1 -226355 Simple 875989920 CAGACAGA . Pathogenic 2 2 Familial hypercholesterolemia 2017-04-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -226356 Simple 875989921 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -226363 Simple 769370816 A . Pathogenic/Likely pathogenic 2 8 Familial hypercholesterolemia 2017-03-30 26.1 1.25 Pathogenic 1 -226366 Simple 28942082 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -226367 Simple 875989926 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -226369 Simple 875989927 A . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -226370 Simple 875989928 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -226371 Simple 875989929 T . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 11.7 1.0 Pathogenic/Likely pathogenic 0 -226372 Simple 875989930 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 1 -226374 Simple 875989932 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 11.7 1.0 Pathogenic/Likely pathogenic 0 -226375 Simple 370245937 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -226377 Simple 875989934 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -226379 Simple 746118995 T . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia;not provided 2017-06-08 29.4 0.8571428571428571 Pathogenic 1 -226381 Simple 875989935 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-04-29 12.0 1.0 Pathogenic/Likely pathogenic 1 -226384 Simple 775092314 C . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -226388 Simple 875989940 - . Pathogenic 2 4 Familial hypercholesterolemia;not provided 2017-05-11 24.0 0.25 Pathogenic 0 -226390 Simple 875989941 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -226391 Simple 875989942 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -226394 Simple 397509365 - . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 22.8 1.2 Pathogenic 1 -226397 Simple . . . Pathogenic 2 3 Familial hypercholesterolemia 2016-03-01 16.200000000000003 2.0 Pathogenic 0 -226401 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -226452 Simple 45502600 A . Benign/Likely benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -226454 Simple 185179294 A . Benign/Likely benign 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -226455 Simple 876657420 GG . Benign 2 2 not specified 2016-05-23 -11.4 1.5 Benign/Likely benign 1 -226457 Simple 140724578 A . Benign 2 2 not specified 2016-07-20 -9.6 3.0 Benign/Likely benign 1 -226458 Simple 138144479 G . Benign 2 4 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-08-01 -22.2 1.5 Benign/Likely benign 1 -226459 Simple 111935323 - . Benign/Likely benign 2 3 Hermansky-Pudlak syndrome;Hermansky Pudlak syndrome 2;not specified 2017-08-04 -14.4 1.0 Benign/Likely benign 0 -226460 Simple 7706167 G . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226461 Simple 35496909 C . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226463 Simple 182286598 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226465 Simple 138974602 T . Benign 2 2 not specified 2017-07-21 -9.6 2.5 Benign/Likely benign 1 -226482 Simple 876657421 TGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG . Benign 2 2 Homocystinuria due to CBS deficiency;not specified 2017-08-16 -11.4 1.0 Benign/Likely benign 1 -226483 Simple 115545935 C . Benign/Likely benign 2 4 Primary ciliary dyskinesia;not specified;not provided 2017-05-30 -15.0 1.75 Benign/Likely benign 0 -226484 Simple 79386936 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-08 -12.6 2.0 Benign/Likely benign 0 -226485 Simple 57838737 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-08 -12.6 2.0 Benign/Likely benign 0 -226486 Simple 74692882 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-25 -12.6 2.0 Benign/Likely benign 0 -226487 Simple 2289532 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-06-28 -9.6 2.5 Benign/Likely benign 1 -226488 Simple 116824266 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-28 -12.6 2.0 Benign/Likely benign 0 -226490 Simple 185006459 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-08-03 -9.6 3.0 Benign/Likely benign 0 -226491 Simple 61749027 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-06-23 -12.6 2.0 Benign/Likely benign 0 -226492 Simple 1982243 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-16 -14.4 1.0 Benign/Likely benign 0 -226493 Simple 61686936 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-28 -14.4 1.0 Benign/Likely benign 0 -226494 Simple 74000351 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -226498 Simple 368122233 G . Benign/Likely benign 2 2 not specified 2016-01-22 -6.300000000000001 3.5 Likely benign 1 -226502 Simple 894189 A . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -226503 Simple 61744497 T . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -226504 Simple 143934888 G . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -226506 Simple 183860695 A . Benign 2 1 not specified 2015-04-16 . 2.0 . 0 -226510 Simple 10426475 T . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -226513 Simple 60372903 G . Benign 2 2 not specified;Dilated Cardiomyopathy, Dominant 2017-03-20 -10.8 1.5 Benign/Likely benign 1 -226514 Simple 34586275 C . Benign 2 3 not specified;Dilated Cardiomyopathy, Dominant 2017-08-07 -16.8 1.3333333333333333 Benign/Likely benign 1 -226515 Simple 77370542 T . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -226516 Simple 34057735 T . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -226517 Simple 10456 A . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -226524 Simple 16846663 A . Benign 2 1 not specified 2015-05-05 . 2.0 . 0 -226525 Simple 1045644 G . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -226526 Simple 35353967 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -226527 Simple 61759484 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -226528 Simple 17097458 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.6 3.0 Likely benign 1 -226530 Simple 73741539 T . Benign/Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-05-26 -21.6 1.4285714285714286 Benign/Likely benign 0 -226531 Simple 147815324 - . Benign/Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -20.4 1.1666666666666667 Benign/Likely benign 0 -226533 Simple 35765893 T . Benign/Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -20.4 1.1666666666666667 Benign/Likely benign 0 -226534 Simple 34478777 A . Benign/Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -20.4 1.1666666666666667 Benign/Likely benign 0 -226535 Simple 1799911 A . Benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-09-29 -39.6 1.5714285714285714 Benign 0 -226536 Simple 141967872 T . Benign/Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -18.6 1.6666666666666667 Benign/Likely benign 0 -226537 Simple 148262058 A . Benign/Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-08-28 -23.4 1.0 Benign/Likely benign 0 -226538 Simple 117267045 A . Benign/Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -20.4 1.1666666666666667 Benign/Likely benign 0 -226539 Simple 368309085 C . Benign/Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -20.4 1.1666666666666667 Benign/Likely benign 0 -226540 Simple 1516446 G . Benign 2 2 not specified 2017-06-05 -10.8 1.5 Benign/Likely benign 1 -226557 Simple 114357468 C . Benign 2 3 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-07-06 -16.8 1.3333333333333333 Benign/Likely benign 1 -226562 Simple 35426428 T . Benign 2 1 not specified 2015-04-28 . 2.0 . 0 -226563 Simple 767100040 - . Benign 2 2 not specified 2016-04-12 -10.8 2.0 Benign/Likely benign 1 -226564 Simple 761444075 GGAGGA . Benign/Likely benign 2 4 Deafness, autosomal dominant 1;not specified;not provided;Seizures, cortical blindness, and microcephaly syndrome 2017-08-24 -18.6 1.5 Benign/Likely benign 0 -226565 Simple 143763573 C . Benign/Likely benign 2 3 Deafness, autosomal dominant 1;not specified;Seizures, cortical blindness, and microcephaly syndrome;Nonsyndromic Hearing Loss, Mixed 2017-05-11 -12.6 2.0 Benign/Likely benign 0 -226566 Simple 5972599 A . Benign 2 3 Duchenne muscular dystrophy;not specified;Cardiovascular phenotype 2017-07-28 -16.8 1.0 Benign/Likely benign 1 -226567 Simple 145515413 A . Benign/Likely benign 2 3 Duchenne muscular dystrophy;not specified 2017-02-16 -14.100000000000001 1.6666666666666667 Benign/Likely benign 0 -226570 Simple 35504640 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-15 -14.4 1.0 Benign/Likely benign 0 -226571 Simple 36062234 G . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-15 -14.4 1.0 Benign/Likely benign 0 -226572 Simple 17856705 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -226573 Simple 9972733 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -226575 Simple 11644164 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -226576 Simple 76108116 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-16 -12.6 2.0 Benign/Likely benign 0 -226578 Simple 116368970 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-05-16 -9.6 2.5 Benign/Likely benign 1 -226580 Simple 72658820 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -226581 Simple 143362381 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-03-09 -11.4 1.0 Benign/Likely benign 0 -226582 Simple 72658840 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -226584 Simple 60290948 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226585 Simple 17144822 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226587 Simple 78763603 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-28 -12.6 2.0 Benign/Likely benign 0 -226589 Simple 185273259 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-11-24 -9.6 3.0 Benign/Likely benign 1 -226591 Simple 77541151 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -226592 Simple 61744054 G . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-08 -12.6 2.0 Benign/Likely benign 0 -226593 Simple 10077457 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-08 -12.6 2.0 Benign/Likely benign 0 -226594 Simple 34580014 A . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -226595 Simple 113425437 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-14 -12.6 2.0 Benign/Likely benign 0 -226596 Simple 35090077 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -226598 Simple 146696580 T . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -226599 Simple 141141086 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-07 -9.6 2.5 Benign/Likely benign 1 -226602 Simple 7719896 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-08 -11.4 1.0 Benign/Likely benign 1 -226603 Simple 1348690 C . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-07-28 -12.6 2.0 Benign/Likely benign 0 -226605 Simple 74604638 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified;not provided 2017-08-28 -12.6 1.6666666666666667 Benign/Likely benign 0 -226606 Simple 35900306 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-07 -12.6 2.0 Benign/Likely benign 0 -226607 Simple 35233147 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-08 -12.6 2.0 Benign/Likely benign 0 -226610 Simple 28725418 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -226611 Simple 35985071 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-05-02 -9.6 2.5 Benign/Likely benign 1 -226612 Simple 35636875 T . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-05-02 -9.6 2.5 Benign/Likely benign 1 -226613 Simple 78337193 T . Benign/Likely benign 2 5 Limb-girdle muscular dystrophy, type 1E;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-11 -22.8 1.2 Benign/Likely benign 0 -226614 Simple 16938572 G . Benign/Likely benign 2 4 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;not provided;Hyper-IgE syndrome 2017-07-27 -15.6 1.75 Benign/Likely benign 0 -226615 Simple 574290806 G . Benign/Likely benign 2 2 not specified 2017-10-03 -8.4 1.0 Benign/Likely benign 0 -226616 Simple 147630977 C . Benign 2 3 Congenital disorder of glycosylation type 1M;not specified 2017-03-21 -17.4 1.0 Benign/Likely benign 1 -226617 Simple 201469817 A . Benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2017-07-21 -16.8 1.3333333333333333 Benign/Likely benign 1 -226619 Simple 61739410 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -226620 Simple 73369534 C . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226621 Simple 34780366 G . Benign/Likely benign 2 3 Waardenburg syndrome;not specified;Hirschsprung Disease, Dominant 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -226622 Simple 5351 C . Benign 2 3 Waardenburg syndrome;not specified;Hirschsprung Disease, Recessive 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -226623 Simple 5346 A . Benign/Likely benign 2 3 Waardenburg syndrome;not specified;Hirschsprung Disease, Recessive 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226626 Simple 5349 A . Benign/Likely benign 2 2 not specified;Hirschsprung Disease, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -226627 Simple 3027092 A . Benign/Likely benign 2 3 Waardenburg syndrome;not specified;Hirschsprung Disease, Recessive 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226628 Simple 111550973 T . Benign/Likely benign 2 4 not specified;Autosomal recessive cutis laxa type 1B 2017-07-22 -18.6 1.5 Benign/Likely benign 0 -226631 Simple 140425210 A . Benign/Likely benign 2 4 not specified;not provided;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2017-01-02 -17.4 1.25 Benign/Likely benign 0 -226632 Simple 181330955 A . Benign/Likely benign 2 5 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2016-06-14 -21.6 1.8 Benign/Likely benign 0 -226639 Simple 147699855 G . Benign/Likely benign 2 3 not specified;Macular degeneration;Cutis Laxa, Dominant/Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -226640 Simple 2291566 G . Benign 2 2 not specified 2016-02-12 -10.2 2.5 Benign/Likely benign 1 -226641 Simple 2249128 C . Benign 2 2 not specified 2016-06-03 -10.8 2.0 Benign/Likely benign 1 -226642 Simple 61753347 T . Benign 2 2 Alveolar capillary dysplasia with misalignment of pulmonary veins;not specified 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -226647 Simple 61754947 G . Benign 2 2 not specified 2016-06-13 -12.0 1.0 Benign/Likely benign 1 -226649 Simple 35029887 - . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -7.8 2.0 Likely benign 1 -226650 Simple 58302597 T . Benign/Likely benign 2 2 Retinitis pigmentosa-deafness syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -226651 Simple 2230361 A . Benign/Likely benign 2 2 Retinitis pigmentosa-deafness syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -226652 Simple 147288996 T . Benign 2 2 not specified;Usher syndrome, type 3B 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -226656 Simple 116769827 C . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226657 Simple 114685298 T . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226658 Simple 35993959 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226659 Simple 3747132 T . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226660 Simple 73432728 G . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226661 Simple 79009787 C . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226662 Simple 73430857 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -226665 Simple 11539471 C . Benign 2 3 Bifunctional peroxisomal enzyme deficiency;not specified;Perrault Syndrome 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -226667 Simple 11205 G . Benign 2 3 Bifunctional peroxisomal enzyme deficiency;not specified;Perrault Syndrome 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -226668 Simple 2560722 T . Benign/Likely benign 2 3 Bifunctional peroxisomal enzyme deficiency;not specified;Perrault Syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226669 Simple 28943592 T . Benign/Likely benign 2 3 Bifunctional peroxisomal enzyme deficiency;not specified;Perrault Syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226670 Simple 28943594 G . Benign/Likely benign 2 4 Bifunctional peroxisomal enzyme deficiency;Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance;not specified;Perrault Syndrome 2017-07-14 -16.8 1.25 Benign/Likely benign 0 -226671 Simple 12714 T . Benign/Likely benign 2 4 Bifunctional peroxisomal enzyme deficiency;Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance;not specified;Perrault Syndrome 2017-07-14 -16.8 1.25 Benign/Likely benign 0 -226672 Simple 28943589 T . Benign/Likely benign 2 4 Bifunctional peroxisomal enzyme deficiency;Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance;not specified;Perrault Syndrome 2017-07-14 -16.8 1.25 Benign/Likely benign 0 -226674 Simple 1143650 G . Benign/Likely benign 2 4 Bifunctional peroxisomal enzyme deficiency;not specified;not provided;Perrault Syndrome 2016-06-14 -16.2 1.75 Benign/Likely benign 0 -226675 Simple 6461252 T . Benign 2 3 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 -16.2 2.0 Benign/Likely benign 1 -226676 Simple 142647500 AACAAC . Benign/Likely benign 2 4 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 -18.6 2.0 Benign/Likely benign 0 -226677 Simple 199840543 A . Benign 2 4 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-09-20 -22.8 1.5 Benign/Likely benign 1 -226678 Simple 16941301 A . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Intermediate 2016-06-14 -7.8 2.0 Likely benign 1 -226680 Simple 5030748 C . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Intermediate 2016-06-14 -7.8 2.0 Likely benign 1 -226682 Simple 6834 C . Benign 2 2 not specified;Charcot-Marie-Tooth, Intermediate 2016-06-14 -10.8 2.0 Benign/Likely benign 1 -226683 Simple 117041419 C . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Intermediate 2016-06-14 -7.8 2.0 Likely benign 1 -226685 Simple 17173508 A . Benign 2 2 Long QT syndrome;not specified 2016-07-31 -11.4 1.5 Benign/Likely benign 1 -226688 Simple 6805421 G . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -226689 Simple 123509 C . Benign 2 2 not specified 2016-01-05 -10.2 2.5 Benign/Likely benign 1 -226690 Simple 149459643 G . Benign 2 2 not specified 2016-01-05 -9.0 3.5 Benign/Likely benign 1 -226691 Simple 7610357 C . Benign 2 2 not specified 2015-12-02 -10.2 2.5 Benign/Likely benign 1 -226692 Simple 144183054 T . Benign 2 2 not specified 2016-02-12 -10.2 2.5 Benign/Likely benign 1 -226693 Simple 2128361 A . Benign 2 2 not specified 2015-12-02 -10.2 2.5 Benign/Likely benign 1 -226694 Simple 116826217 A . Benign/Likely benign 2 2 not specified 2017-04-20 -7.8 1.5 Likely benign 1 -226695 Simple 141607519 C . Benign 2 2 not specified 2016-01-23 -10.2 2.5 Benign/Likely benign 1 -226696 Simple 149911756 T . Benign/Likely benign 2 2 not specified 2017-08-08 -7.8 1.5 Likely benign 1 -226697 Simple 2306522 C . Benign 2 2 not specified 2015-12-02 -10.2 2.5 Benign/Likely benign 1 -226698 Simple 11549809 A . Benign 2 2 not specified 2015-12-02 -10.2 2.5 Benign/Likely benign 1 -226699 Simple 34459812 C . Benign 2 2 not specified 2016-05-03 -10.8 2.0 Benign/Likely benign 1 -226700 Simple 2170549 C . Benign 2 2 not specified 2015-12-02 -10.2 2.5 Benign/Likely benign 1 -226701 Simple 36054230 T . Benign 2 2 not specified 2016-06-09 -10.8 2.0 Benign/Likely benign 1 -226702 Simple 77377258 C . Benign/Likely benign 2 2 not specified 2017-02-02 -7.8 2.0 Likely benign 1 -226703 Simple 143838895 T . Benign/Likely benign 2 2 not specified 2016-12-21 -7.8 2.0 Likely benign 1 -226704 Simple 267220 G . Benign 2 2 not specified 2015-12-02 -10.2 2.5 Benign/Likely benign 1 -226705 Simple 78587006 C . Benign 2 2 not specified 2016-10-12 -10.8 2.0 Benign/Likely benign 1 -226706 Simple 116272561 A . Benign/Likely benign 2 2 not specified 2016-03-14 -7.8 2.0 Likely benign 1 -226707 Simple 145135580 C . Benign 2 2 not specified 2016-08-04 -10.8 2.0 Benign/Likely benign 1 -226708 Simple 71645922 A . Benign 2 2 not specified 2016-03-02 -10.2 2.5 Benign/Likely benign 1 -226709 Simple 12710260 C . Benign/Likely benign 2 9 Familial hypercholesterolemia;not specified 2017-08-02 -46.8 1.0 Benign 1 -226714 Simple 142960762 - . Benign 2 1 not specified 2015-04-24 . 2.0 . 0 -226719 Simple 41470347 A . Benign/Likely benign 2 3 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-10-03 -12.6 2.3333333333333335 Benign/Likely benign 0 -226720 Simple 141810975 T . Benign/Likely benign 2 3 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-11-25 -12.6 2.3333333333333335 Benign/Likely benign 0 -226722 Simple 35079932 A . Benign 2 2 not specified 2016-10-03 -9.6 3.0 Benign/Likely benign 1 -226723 Simple 80192963 T . Benign 2 2 not specified 2016-11-21 -9.6 3.0 Benign/Likely benign 1 -226726 Simple 36118030 A . Benign/Likely benign 2 3 Tietz syndrome;Waardenburg syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226728 Simple 140663277 T . Benign/Likely benign 2 3 Tietz syndrome;Waardenburg syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226729 Simple 181810413 G . Benign/Likely benign 2 3 Tietz syndrome;Waardenburg syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226738 Simple 137921742 A . Benign 2 2 not specified 2016-10-14 -10.8 2.0 Benign/Likely benign 1 -226739 Simple 73657328 T . Benign 2 2 not specified 2016-10-20 -10.8 2.0 Benign/Likely benign 1 -226741 Simple 28623148 T . Benign 2 2 not specified 2016-09-23 -11.4 1.5 Benign/Likely benign 1 -226742 Simple 141589872 A . Benign/Likely benign 2 2 not specified 2017-10-26 -7.8 1.5 Likely benign 1 -226743 Simple 2780956 A . Benign 2 2 not specified 2016-09-23 -10.8 2.0 Benign/Likely benign 1 -226745 Simple 118097099 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -226746 Simple 12610591 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -226747 Simple 3826772 T . Benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.6 3.0 Benign/Likely benign 1 -226749 Simple 188675676 G . Benign/Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-03-22 -8.4 1.0 Benign/Likely benign 0 -226750 Simple 143316848 T . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226751 Simple 141055332 A . Benign/Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226752 Simple 115170675 T . Benign/Likely benign 2 1 not specified 2012-05-07 . 5.0 . 0 -226753 Simple 4678047 A . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-23 -13.2 2.0 Benign/Likely benign 0 -226754 Simple 35156360 A . Benign/Likely benign 2 6 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-07 -30.0 1.6666666666666667 Benign 1 -226755 Simple 9833275 C . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-22 -18.6 2.0 Benign/Likely benign 0 -226756 Simple 820329 T . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-26 -13.2 2.0 Benign/Likely benign 0 -226757 Simple 820355 A . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-22 -13.2 2.0 Benign/Likely benign 0 -226758 Simple 3732486 G . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-26 -13.2 2.0 Benign/Likely benign 0 -226759 Simple 3732487 T . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-27 -13.2 2.0 Benign/Likely benign 0 -226760 Simple 144885184 A . Benign 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-07-03 -11.4 1.0 Benign/Likely benign 1 -226761 Simple 75370906 C . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -24.6 1.6 Benign 1 -226764 Simple 40305 A . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-22 -13.2 2.0 Benign/Likely benign 0 -226765 Simple 41271437 T . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-10-03 -13.2 2.0 Benign/Likely benign 0 -226766 Simple 55760507 C . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-04 -19.2 1.5 Benign/Likely benign 0 -226767 Simple 17298941 A . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -19.2 1.5 Benign/Likely benign 0 -226768 Simple 200371896 GG . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -25.8 1.2 Benign 1 -226769 Simple 376670657 C . Benign/Likely benign 2 3 Aortic aneurysm, familial thoracic 7;not specified 2017-09-27 -13.2 1.6666666666666667 Benign/Likely benign 0 -226770 Simple 1254392 G . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-23 -13.8 1.6666666666666667 Benign/Likely benign 0 -226771 Simple 820463 G . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-23 -13.2 2.0 Benign/Likely benign 0 -226772 Simple 141467675 T . Benign 2 3 Aortic aneurysm, familial thoracic 7;not specified 2017-02-20 -16.2 2.0 Benign/Likely benign 1 -226773 Simple 28497577 T . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-12 -19.8 1.25 Benign/Likely benign 0 -226774 Simple 3796164 G . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-12 -19.2 1.5 Benign/Likely benign 0 -226776 Simple 186829587 T . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -226777 Simple 145292219 A . Benign/Likely benign 2 2 not specified 2016-08-25 -6.6 3.0 Likely benign 1 -226778 Simple 2955366 G . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -226779 Simple 2955367 G . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -226780 Simple 79760961 T . Benign/Likely benign 2 3 not specified;not provided 2016-07-22 -12.6 2.3333333333333335 Benign/Likely benign 0 -226784 Simple 76468019 G . Benign 2 1 not specified 2015-04-17 . 2.0 . 0 -226788 Simple 2280777 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -226789 Simple 9916193 G . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -226790 Simple 712270 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.6 3.0 Likely benign 1 -226792 Simple 200695102 T . Benign/Likely benign 2 1 not specified 2015-08-27 . 2.0 . 0 -226801 Simple 202145133 C . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-06 -10.8 1.5 Benign/Likely benign 1 -226802 Simple 193006519 G . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-14 -10.8 1.5 Benign/Likely benign 1 -226803 Simple 9807556 A . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-26 -10.8 1.5 Benign/Likely benign 1 -226804 Simple 371861150 A . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-07-02 -10.8 2.0 Benign/Likely benign 1 -226805 Simple 116743447 C . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-14 -10.8 1.5 Benign/Likely benign 1 -226806 Simple 180916932 G . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-14 -10.8 1.5 Benign/Likely benign 1 -226807 Simple 36098676 T . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-18 -10.8 1.5 Benign/Likely benign 1 -226809 Simple 149528866 T . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-06 -10.8 1.5 Benign/Likely benign 1 -226810 Simple 115382168 C . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-25 -10.8 1.5 Benign/Likely benign 1 -226811 Simple 143030509 C . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-08-03 -10.8 1.5 Benign/Likely benign 1 -226814 Simple 115240600 G . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-08-04 -10.8 1.5 Benign/Likely benign 1 -226817 Simple 568600892 A . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-03-12 -11.4 1.5 Benign/Likely benign 1 -226818 Simple 143879853 T . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-25 -10.8 1.5 Benign/Likely benign 1 -226820 Simple 75748615 T . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-28 -10.8 1.5 Benign/Likely benign 1 -226823 Simple 16944397 G . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-08-04 -10.8 1.5 Benign/Likely benign 1 -226824 Simple 140845661 A . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-08-04 -10.8 1.5 Benign/Likely benign 1 -226827 Simple 117342470 T . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-25 -10.8 1.5 Benign/Likely benign 1 -226829 Simple 61735396 A . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-31 -10.8 1.5 Benign/Likely benign 1 -226831 Simple 142735495 A . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-25 -11.4 1.0 Benign/Likely benign 1 -226836 Simple 76382984 T . Benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-10 -11.4 1.0 Benign/Likely benign 1 -226840 Simple 145103325 A . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2015-07-01 -8.100000000000001 2.0 Likely benign 1 -226841 Simple 145440469 A . Benign 2 2 not specified;Dilated cardiomyopathy 1KK 2017-07-21 -10.8 1.5 Benign/Likely benign 1 -226842 Simple 200125713 G . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified 2017-08-23 -13.8 1.3333333333333333 Benign/Likely benign 0 -226844 Simple 113048349 A . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified 2017-07-31 -16.8 1.0 Benign/Likely benign 0 -226845 Simple 4414676 T . Benign/Likely benign 2 4 not specified;Nemaline Myopathy, Recessive 2016-06-14 -19.8 1.5 Benign/Likely benign 0 -226846 Simple 10173335 T . Benign/Likely benign 2 3 not specified;Nemaline Myopathy, Recessive 2016-06-14 -13.2 2.0 Benign/Likely benign 0 -226847 Simple 6710212 G . Benign 2 2 not specified 2016-01-05 -10.2 2.5 Benign/Likely benign 1 -226848 Simple 6709886 G . Benign 2 2 not specified 2016-01-05 -10.2 2.5 Benign/Likely benign 1 -226849 Simple 371431782 T . Benign 2 3 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified 2017-08-04 -16.8 1.3333333333333333 Benign/Likely benign 1 -226850 Simple 17885739 T . Benign 2 3 not specified 2016-11-10 -16.8 1.6666666666666667 Benign/Likely benign 1 -226851 Simple 17878332 T . Benign/Likely benign 2 2 not specified 2017-09-13 -7.8 1.5 Likely benign 1 -226852 Simple 149197458 - . Benign 2 1 not specified 2015-04-02 . 2.0 . 0 -226853 Simple 62001869 A . Benign 2 2 Ciliary dyskinesia, primary, 6;not specified 2017-08-07 -9.6 2.5 Benign/Likely benign 1 -226854 Simple 75531720 T . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -226855 Simple 5065 G . Benign 2 2 not specified 2016-04-12 -11.4 1.5 Benign/Likely benign 1 -226869 Simple 61734214 C . Benign/Likely benign 2 2 not specified;not provided 2016-07-22 -7.8 2.0 Likely benign 1 -226915 Simple 11828989 A . Benign 2 2 not specified;not provided 2016-07-22 -10.8 2.0 Benign/Likely benign 1 -226931 Simple 76420383 T . Benign/Likely benign 2 2 not specified 2015-08-24 -8.100000000000001 2.0 Likely benign 1 -226978 Simple 186616540 A . Benign/Likely benign 2 2 not specified 2015-08-10 -7.5 2.5 Likely benign 1 -226993 Simple 151199924 A . Benign/Likely benign 2 3 Craniofacial deafness hand syndrome;Waardenburg syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -226994 Simple 28945092 C . Benign/Likely benign 2 3 Craniofacial deafness hand syndrome;Waardenburg syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226995 Simple 140960868 T . Benign/Likely benign 2 3 Craniofacial deafness hand syndrome;Waardenburg syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226996 Simple 141545923 A . Benign/Likely benign 2 3 Craniofacial deafness hand syndrome;Waardenburg syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226997 Simple 45522331 A . Benign/Likely benign 2 3 Craniofacial deafness hand syndrome;Waardenburg syndrome;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -226998 Simple 2855268 G . Benign/Likely benign 2 3 Craniofacial deafness hand syndrome;Waardenburg syndrome;not specified 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -226999 Simple 145418788 A . Benign/Likely benign 2 3 not specified 2016-03-31 -11.4 1.6666666666666667 Benign/Likely benign 0 -227003 Simple 148772706 T . Benign/Likely benign 2 2 not specified 2016-05-17 -6.6 3.0 Likely benign 1 -227008 Simple 530804327 AAAGAAAG . Benign 2 2 not specified 2015-06-25 -10.2 2.5 Benign/Likely benign 1 -227013 Simple 139493914 T . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-07-26 -13.8 1.0 Benign/Likely benign 0 -227014 Simple 17881486 C . Benign 2 3 Congenital central hypoventilation;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -17.4 1.0 Benign/Likely benign 1 -227015 Simple 17885216 A . Benign/Likely benign 2 5 Congenital central hypoventilation;Neuroblastoma;not specified 2017-08-10 -20.4 1.0 Benign/Likely benign 0 -227016 Simple 771383153 . . Benign/Likely benign 2 3 Congenital central hypoventilation;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -11.4 0.6666666666666666 Benign/Likely benign 0 -227017 Simple 115621402 T . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-16 -16.8 1.3333333333333333 Benign/Likely benign 1 -227018 Simple 7003580 T . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -227019 Simple 115664009 T . Benign 2 2 not specified 2016-01-29 -10.2 2.5 Benign/Likely benign 1 -227022 Simple 61745281 T . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-07-26 -16.8 1.3333333333333333 Benign/Likely benign 1 -227023 Simple 139129844 A . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-07-21 -16.8 1.3333333333333333 Benign/Likely benign 1 -227024 Simple 188908415 T . Benign 2 2 not specified;Left ventricular noncompaction 8 2016-09-12 -10.8 2.0 Benign/Likely benign 1 -227025 Simple 368589754 A . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-08-04 -16.8 1.3333333333333333 Benign/Likely benign 1 -227026 Simple 870124 C . Benign 2 2 not specified 2016-09-09 -10.8 2.0 Benign/Likely benign 1 -227027 Simple 2493292 T . Benign 2 2 not specified 2016-09-23 -10.8 2.0 Benign/Likely benign 1 -227028 Simple 35184988 T . Benign 2 2 not specified;Left ventricular noncompaction 8 2017-05-11 -10.8 1.5 Benign/Likely benign 1 -227029 Simple 115226069 T . Benign 2 2 not specified 2016-10-06 -11.4 1.5 Benign/Likely benign 1 -227030 Simple 114204766 A . Benign/Likely benign 2 2 not specified;Left ventricular noncompaction 8 2016-09-12 -7.8 2.0 Likely benign 1 -227031 Simple 3819970 A . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-08-11 -16.8 1.3333333333333333 Benign/Likely benign 1 -227032 Simple 59135929 T . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-08-04 -16.8 1.3333333333333333 Benign/Likely benign 1 -227033 Simple 7549401 A . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-07-20 -16.8 1.3333333333333333 Benign/Likely benign 1 -227034 Simple 187400273 T . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-06-28 -16.8 1.3333333333333333 Benign/Likely benign 1 -227035 Simple 870171 T . Benign 2 2 not specified 2016-09-23 -10.8 2.0 Benign/Likely benign 1 -227036 Simple 370420046 T . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-07-28 -16.8 1.3333333333333333 Benign/Likely benign 1 -227037 Simple 188634763 C . Benign/Likely benign 2 3 not specified;Left ventricular noncompaction 8 2017-07-12 -13.8 1.0 Benign/Likely benign 0 -227038 Simple 9662053 T . Benign 2 2 not specified 2016-11-21 -10.8 2.0 Benign/Likely benign 1 -227039 Simple 369010644 T . Benign 2 2 not specified;Left ventricular noncompaction 8 2017-08-08 -11.4 1.0 Benign/Likely benign 1 -227040 Simple 150097149 T . Benign 2 2 not specified;Left ventricular noncompaction 8 2017-05-16 -10.8 1.5 Benign/Likely benign 1 -227041 Simple 2282198 T . Benign 2 2 not specified 2016-09-09 -10.8 2.0 Benign/Likely benign 1 -227042 Simple 12058363 T . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-08-08 -16.8 1.3333333333333333 Benign/Likely benign 1 -227043 Simple 61756439 T . Benign 2 3 not specified;Left ventricular noncompaction 8 2017-07-18 -16.8 1.3333333333333333 Benign/Likely benign 1 -227046 Simple 730880997 - . Benign/Likely benign 2 4 not specified;Rasopathy 2017-06-23 -16.2 1.5 Benign/Likely benign 0 -227047 Simple 493446 G . Benign 2 1 not specified 2015-01-20 . 3.0 . 0 -227048 Simple 4084271 G . Benign 2 1 not specified 2014-11-24 . 3.0 . 0 -227049 Simple 112368541 G . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-20 -10.8 1.5 Benign/Likely benign 1 -227051 Simple 149478284 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-31 -10.8 1.5 Benign/Likely benign 1 -227052 Simple 117385282 T . Benign 2 1 not specified 2015-02-20 . 3.0 . 0 -227054 Simple 41290844 A . Benign 2 1 not specified 2013-02-21 . 5.0 . 0 -227055 Simple 9488992 T . Benign/Likely benign 2 3 Primary ciliary dyskinesia;not specified 2017-08-08 -12.6 2.0 Benign/Likely benign 0 -227056 Simple 144241486 A . Benign/Likely benign 2 4 not specified;RYR1-Related Disorders 2017-08-01 -19.8 1.0 Benign/Likely benign 0 -227057 Simple 17215493 A . Benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-04 -15.6 2.0 Benign/Likely benign 1 -227058 Simple 61759919 G . Benign/Likely benign 2 3 not specified;Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -227060 Simple 61759915 C . Benign/Likely benign 2 5 Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2017-06-28 -17.4 1.0 Benign/Likely benign 0 -227072 Simple 34550459 T . Benign/Likely benign 2 3 not specified;not provided;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -12.0 2.6666666666666665 Benign/Likely benign 0 -227074 Simple 6413522 T . Benign 2 2 not specified 2015-09-18 -9.0 3.5 Benign/Likely benign 1 -227075 Simple 150550985 T . Benign/Likely benign 2 3 Branchiootorenal Spectrum Disorders;not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -227076 Simple 78237438 A . Benign/Likely benign 2 2 Primary pulmonary hypertension;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -227077 Simple 146836873 G . Benign/Likely benign 2 4 Primary pulmonary hypertension;not specified;Primary pulmonary hypertension 2 2017-05-03 -17.1 1.25 Benign/Likely benign 0 -227078 Simple 149435516 A . Benign/Likely benign 2 3 Waardenburg syndrome;not specified;PCWH Syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -227079 Simple 73415876 A . Benign/Likely benign 2 4 Waardenburg syndrome;not specified;not provided;PCWH Syndrome 2016-09-14 -16.8 1.5 Benign/Likely benign 0 -227080 Simple 201638602 C . Benign/Likely benign 2 3 Waardenburg syndrome;not specified;PCWH Syndrome 2016-06-14 -10.8 1.6666666666666667 Benign/Likely benign 0 -227081 Simple 139884 G . Benign 2 3 Waardenburg syndrome;not specified;PCWH Syndrome 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -227093 Simple 145916279 C . Benign/Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -9.6 2.3333333333333335 Benign/Likely benign 0 -227094 Simple 202199158 A . Benign/Likely benign 2 4 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-21 -14.4 1.25 Benign/Likely benign 0 -227096 Simple 33956095 A . Benign 2 6 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-08-15 -33.6 1.3333333333333333 Benign 0 -227097 Simple 33948291 A . Benign/Likely benign 2 5 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-08-11 -18.6 1.6 Benign/Likely benign 0 -227098 Simple 371744235 T . Benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-04-14 -9.6 2.5 Benign/Likely benign 1 -227099 Simple 546307383 - . Benign/Likely benign 2 1 not specified 2016-02-21 . 2.0 . 0 -227102 Simple 35766971 T . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-25 -16.8 1.3333333333333333 Benign/Likely benign 1 -227104 Simple 35047281 T . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-03 -16.8 1.3333333333333333 Benign/Likely benign 1 -227105 Simple 41284430 T . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-10-03 -13.8 1.6666666666666667 Benign/Likely benign 0 -227106 Simple 6901953 C . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-09-27 -13.8 1.6666666666666667 Benign/Likely benign 0 -227107 Simple 28494009 C . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-09-26 -13.8 1.6666666666666667 Benign/Likely benign 0 -227108 Simple 17737379 T . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-09-27 -13.8 1.6666666666666667 Benign/Likely benign 0 -227109 Simple 2873479 T . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-25 -20.4 1.0 Benign/Likely benign 0 -227110 Simple 2873479 C . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-09-21 -16.8 1.6666666666666667 Benign/Likely benign 1 -227111 Simple 9401658 T . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-09-22 -16.8 1.6666666666666667 Benign/Likely benign 1 -227112 Simple 6569336 T . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-10-03 -19.2 1.75 Benign/Likely benign 0 -227113 Simple 55704802 C . Benign/Likely benign 2 2 not specified 2017-05-18 -8.4 1.0 Benign/Likely benign 0 -227114 Simple 147062785 AA . Benign/Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 -7.8 2.0 Likely benign 1 -227115 Simple 7771303 C . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-28 -19.8 1.25 Benign/Likely benign 0 -227116 Simple 60743141 C . Benign 2 3 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-05-30 -16.2 1.6666666666666667 Benign/Likely benign 1 -227117 Simple 59935057 T . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-10-12 -13.8 1.6666666666666667 Benign/Likely benign 0 -227118 Simple 34808221 T . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-26 -16.8 1.3333333333333333 Benign/Likely benign 1 -227119 Simple 9490809 C . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-09-22 -16.8 1.6666666666666667 Benign/Likely benign 1 -227120 Simple 192289289 T . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-31 -17.4 1.0 Benign/Likely benign 1 -227121 Simple 79182520 A . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-26 -19.8 1.25 Benign/Likely benign 0 -227122 Simple 148596612 - . Benign/Likely benign 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-26 -20.4 1.0 Benign/Likely benign 0 -227123 Simple 6902416 C . Benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-09-21 -16.8 1.6666666666666667 Benign/Likely benign 1 -227124 Simple 77768246 C . Benign/Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-30 -13.8 1.3333333333333333 Benign/Likely benign 0 -227125 Simple 144175566 A . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -227126 Simple 116448422 A . Benign 2 2 not specified 2016-05-31 -9.6 3.0 Benign/Likely benign 1 -227127 Simple 61729063 T . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -227128 Simple 61729060 G . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -227129 Simple 61737839 A . Benign 2 1 not specified 2012-04-30 . 5.0 . 0 -227150 Simple 71530905 T . Benign/Likely benign 2 2 not specified 2016-11-15 -7.8 2.0 Likely benign 1 -227151 Simple 150936382 A . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -227152 Simple 142651446 G . Benign/Likely benign 2 4 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2017-03-22 -14.4 1.0 Benign/Likely benign 0 -227153 Simple 183980454 T . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -227155 Simple 117603931 T . Likely benign 2 2 not specified;not provided 2017-02-27 -5.4 2.0 Likely benign 0 -227159 Simple 76102634 G . Benign/Likely benign 2 4 Dilated cardiomyopathy 1O;not specified;Cardiovascular phenotype 2017-09-12 -14.4 1.25 Benign/Likely benign 0 -227161 Simple 140182559 T . Likely benign 2 3 Dilated cardiomyopathy 1O;not specified 2017-05-17 -8.7 1.0 Benign/Likely benign 1 -227163 Simple 377704379 A . Likely benign 2 2 Dilated cardiomyopathy 1O;not specified 2016-07-02 -5.4 2.0 Likely benign 0 -227169 Simple 139517777 A . Likely benign 2 3 not specified 2016-08-02 -7.5 2.6666666666666665 Likely benign 0 -227174 Simple 191631773 A . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-02-03 -5.7 1.5 Likely benign 0 -227187 Simple 141328836 A . Likely benign 2 2 not specified 2016-09-07 -5.7 1.5 Likely benign 0 -227204 Simple 72556363 - . Likely benign 2 2 not specified;not provided 2016-12-07 -5.7 1.5 Likely benign 0 -227247 Simple 138806839 G . Likely benign 2 3 not specified;Dilated Cardiomyopathy, Dominant 2017-08-24 -8.7 0.6666666666666666 Benign/Likely benign 1 -227248 Simple 76394680 A . Benign/Likely benign 2 3 not specified;Dilated Cardiomyopathy, Dominant 2017-06-27 -11.7 0.6666666666666666 Benign/Likely benign 0 -227249 Simple 142006633 G . Likely benign 2 3 not specified;Dilated Cardiomyopathy, Dominant 2017-07-03 -8.7 0.6666666666666666 Benign/Likely benign 1 -227260 Simple 182657680 G . Likely benign 2 8 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-01-17 -23.1 1.375 Benign/Likely benign 1 -227262 Simple 148243956 A . Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -17.7 1.1666666666666667 Benign/Likely benign 1 -227264 Simple 753871660 C . Likely benign 2 2 not specified 2016-12-15 -5.4 2.0 Likely benign 0 -227265 Simple 368695514 T . Likely benign 2 2 not specified 2016-12-15 -5.4 2.0 Likely benign 0 -227266 Simple 555657704 - . Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-10-18 -20.7 1.0 Benign/Likely benign 1 -227270 Simple 530771165 C . Likely benign 2 1 not specified 2012-04-30 . 5.0 . 0 -227271 Simple 139283268 T . Likely benign 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -20.7 1.1428571428571428 Benign/Likely benign 1 -227272 Simple 555680585 C . Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -17.7 1.1666666666666667 Benign/Likely benign 1 -227279 Simple 140581875 G . Likely benign 2 2 Surfactant metabolism dysfunction, pulmonary, 4;not specified 2017-06-27 -5.7 1.0 Likely benign 0 -227282 Simple 876657448 - . Likely benign 2 2 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2016-08-18 -5.4 2.0 Likely benign 0 -227283 Simple 747073500 A . Likely benign 2 2 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-07-17 -5.7 1.0 Likely benign 0 -227284 Simple 774006810 T . Benign/Likely benign 2 3 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2016-05-03 -10.8 2.0 Benign/Likely benign 0 -227304 Simple 770304914 C . Likely benign 2 2 Deafness, autosomal dominant 1;not specified;Seizures, cortical blindness, and microcephaly syndrome 2017-05-07 -5.7 1.0 Likely benign 0 -227305 Simple 147548697 A . Likely benign 2 2 not specified 2017-03-27 -5.7 1.0 Likely benign 0 -227306 Simple 770464589 C . Benign/Likely benign 2 4 Duchenne muscular dystrophy;not specified 2017-07-31 -14.7 1.0 Benign/Likely benign 0 -227307 Simple 552275776 A . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2016-08-30 -8.7 1.5 Benign/Likely benign 0 -227309 Simple 373749120 T . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2016-07-10 -8.7 1.5 Benign/Likely benign 0 -227310 Simple 778412539 A . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-07-10 -8.7 1.0 Benign/Likely benign 0 -227316 Simple 114257197 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-02-28 -8.7 1.5 Benign/Likely benign 0 -227317 Simple 142372794 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-04-19 -5.7 1.0 Likely benign 1 -227321 Simple 143251588 A . Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-05-30 -5.7 1.5 Likely benign 0 -227324 Simple 151274810 A . Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-24 -5.7 1.0 Likely benign 0 -227327 Simple 116524991 T . Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-27 -5.7 1.0 Likely benign 0 -227328 Simple 876657454 G . Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-05-16 -5.7 1.5 Likely benign 0 -227330 Simple 876657455 C . Likely benign 2 2 not specified 2016-08-04 -5.7 1.5 Likely benign 0 -227332 Simple 574562542 C . Likely benign 2 2 Congenital disorder of glycosylation type 1M;not specified 2017-01-26 -5.7 1.5 Likely benign 0 -227340 Simple 201855245 G . Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype 2017-07-03 -8.4 1.3333333333333333 Benign/Likely benign 1 -227345 Simple 775346694 A . Likely benign 2 2 not specified 2017-01-05 -5.4 2.0 Likely benign 0 -227354 Simple 371661299 T . Likely benign 2 2 Emery-Dreifuss muscular dystrophy 1, X-linked;not specified 2016-03-27 -5.7 1.5 Likely benign 0 -227432 Simple 34254740 C . Likely benign 2 1 not specified 2015-08-04 . 2.0 . 0 -227445 Simple 145172848 A . Benign/Likely benign 2 2 not specified 2015-08-27 -8.100000000000001 2.0 Likely benign 1 -227450 Simple 376289528 A . Likely benign 2 3 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2016-08-10 -8.4 1.6666666666666667 Benign/Likely benign 1 -227462 Simple 769865006 A . Likely benign 2 2 Long QT syndrome;not specified 2017-07-31 -5.4 1.5 Likely benign 0 -227469 Simple 752131356 G . Likely benign 2 1 not specified 2015-02-03 . 3.0 . 0 -227474 Simple 782546070 A . Likely benign 2 2 not specified 2017-08-31 -5.7 1.0 Likely benign 0 -227492 Simple 114881088 T . Likely benign 2 2 not specified 2017-06-20 -5.4 1.5 Likely benign 0 -227493 Simple 145135580 A . Likely benign 2 2 not specified 2017-05-30 -5.7 1.0 Likely benign 0 -227496 Simple 768844187 T . Benign/Likely benign 2 2 Myofibrillar myopathy, ZASP-related;not specified 2016-05-01 -8.7 1.5 Benign/Likely benign 0 -227499 Simple 763081924 C . Likely benign 2 2 not specified 2016-12-06 -5.7 1.5 Likely benign 0 -227505 Simple 397517896 T . Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified 2017-06-19 -11.4 1.0 Benign/Likely benign 1 -227540 Simple 202086678 T . Likely benign 2 1 not specified 2015-10-16 . 2.0 . 0 -227557 Simple 149165620 G . Likely benign 2 2 not specified 2017-08-22 -5.7 1.0 Likely benign 0 -227559 Simple 876657508 . . Likely benign 2 2 not specified 2017-08-09 -5.7 1.0 Likely benign 0 -227566 Simple 760007714 T . Likely benign 2 2 not specified 2016-12-09 -5.7 1.5 Likely benign 0 -227570 Simple 746042492 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-11-04 -5.7 1.5 Likely benign 0 -227573 Simple 558991834 T . Likely benign 2 1 not specified 2015-01-06 . 3.0 . 0 -227580 Simple 11882073 A . Benign/Likely benign 2 2 not specified 2016-05-03 -8.7 1.5 Benign/Likely benign 0 -227585 Simple 757958461 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2016-06-08 -5.4 2.0 Likely benign 0 -227593 Simple 748594445 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2016-11-01 -5.4 2.0 Likely benign 0 -227598 Simple 139518691 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-01 -5.4 1.5 Likely benign 0 -227600 Simple 200231434 A . Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2016-09-03 -8.4 1.6666666666666667 Benign/Likely benign 1 -227606 Simple 532156048 T . Likely benign 2 2 not specified 2016-07-14 -5.7 1.5 Likely benign 0 -227612 Simple 200977419 A . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -7.8 2.3333333333333335 Likely benign 0 -227619 Simple 142552338 A . Likely benign 2 3 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -227623 Simple 148365503 A . Benign/Likely benign 2 3 not specified;Hypertrophic cardiomyopathy 2017-07-26 -10.8 1.6666666666666667 Benign/Likely benign 0 -227628 Simple 876657524 T . Likely benign 2 2 not specified 2015-10-16 -5.4 2.0 Likely benign 0 -227636 Simple 577023485 A . Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -5.7 1.5 Likely benign 0 -227694 Simple 188677538 A . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-22 -8.4 1.5 Benign/Likely benign 0 -227695 Simple 374462999 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-02-07 -5.7 1.5 Likely benign 0 -227701 Simple 188319622 C . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-11-18 -8.7 1.5 Benign/Likely benign 0 -227704 Simple 1143658 C . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-04-26 -8.7 1.0 Benign/Likely benign 0 -227705 Simple 376007739 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-01-06 -5.1 2.5 Likely benign 0 -227707 Simple 139422575 T . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-08-11 -8.7 1.0 Benign/Likely benign 0 -227711 Simple 145688699 A . Benign/Likely benign 2 2 not specified 2016-03-15 -8.4 1.5 Benign/Likely benign 0 -227716 Simple 876657537 G . Likely benign 2 2 not specified 2016-01-12 -5.4 2.0 Likely benign 0 -227717 Simple 375320760 A . Likely benign 2 2 not specified 2017-05-31 -5.7 1.0 Likely benign 0 -227718 Simple 146028308 G . Benign/Likely benign 2 4 not specified;Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2017-07-25 -16.8 1.5 Benign/Likely benign 0 -227720 Simple 139820597 T . Likely benign 2 2 not specified;Dilated cardiomyopathy 1KK 2017-07-03 -5.7 1.0 Likely benign 0 -227723 Simple 876657539 A . Likely benign 2 2 Nemaline myopathy 2;not specified 2017-08-09 -5.7 1.0 Likely benign 0 -227724 Simple 12998234 T . Benign/Likely benign 2 2 not specified 2017-07-31 -5.4 1.5 Likely benign 1 -227725 Simple 147579763 A . Benign/Likely benign 2 1 not specified 2014-12-19 . 3.0 . 0 -227726 Simple 876657540 T . Benign/Likely benign 2 2 not specified 2017-10-19 -5.4 1.5 Likely benign 1 -227727 Simple 774726264 A . Benign/Likely benign 2 2 not specified 2017-09-07 -5.4 1.5 Likely benign 1 -227728 Simple 112260335 C . Benign/Likely benign 2 2 not specified 2017-10-19 -5.4 1.5 Likely benign 1 -227729 Simple 876657541 A . Benign/Likely benign 2 2 not specified 2017-10-19 -5.4 1.5 Likely benign 1 -227730 Simple 876657542 C . Likely benign 2 2 not specified 2017-10-24 -5.4 1.5 Likely benign 0 -227731 Simple 876657543 C . Likely benign 2 2 not specified 2017-03-20 -5.4 1.5 Likely benign 0 -227733 Simple 368793318 T . Likely benign 2 2 not specified 2016-10-06 -5.7 1.5 Likely benign 0 -227734 Simple 180850975 A . Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2016-08-31 -5.4 2.0 Likely benign 0 -227738 Simple 141153708 G . Likely benign 2 3 Primary dilated cardiomyopathy;not specified 2016-05-30 -7.8 2.3333333333333335 Likely benign 0 -227740 Simple 876657544 T . Likely benign 2 2 Neurofibromatosis, type 1;not specified 2015-12-22 -5.4 2.0 Likely benign 0 -227741 Simple 190614908 G . Likely benign 2 2 not specified 2017-07-28 -5.7 1.0 Likely benign 0 -227743 Simple 876657545 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-29 -5.7 1.5 Likely benign 0 -227744 Simple 876657546 C . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-08 -8.1 2.0 Likely benign 0 -227836 Simple 181306086 T . Likely benign 2 2 not specified 2016-02-26 -5.4 2.0 Likely benign 0 -227843 Simple 776361335 T . Likely benign 2 2 not specified 2016-12-16 -5.7 1.5 Likely benign 0 -227844 Simple 148570356 T . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-05-22 -11.7 1.0 Benign/Likely benign 0 -227845 Simple 757355779 C . Benign/Likely benign 2 5 Congenital central hypoventilation;Neuroblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -17.7 1.0 Benign/Likely benign 0 -227847 Simple 377504106 C . Benign/Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-01-21 -8.4 2.0 Benign/Likely benign 0 -227851 Simple 375268778 A . Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-05-16 -8.7 1.0 Benign/Likely benign 1 -227852 Simple 775137004 C . Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-03-02 -8.7 1.3333333333333333 Benign/Likely benign 1 -227854 Simple 374602421 A . Likely benign 2 2 not specified 2016-12-12 -5.7 1.5 Likely benign 0 -227856 Simple 149975083 T . Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -4.8 3.0 Likely benign 0 -227857 Simple 187194973 A . Likely benign 2 3 not specified;Left ventricular noncompaction 8 2017-07-10 -8.7 0.6666666666666666 Benign/Likely benign 1 -227858 Simple 757093442 A . Likely benign 2 2 not specified 2016-12-20 -5.7 1.5 Likely benign 0 -227859 Simple 200169663 G . Benign/Likely benign 2 3 not specified;Left ventricular noncompaction 8 2016-11-28 -11.7 1.3333333333333333 Benign/Likely benign 0 -227861 Simple 376747653 A . Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-05-30 -5.7 1.0 Likely benign 0 -227862 Simple 150395260 A . Benign/Likely benign 2 3 not specified;Left ventricular noncompaction 8 2017-08-04 -11.4 1.0 Benign/Likely benign 0 -227864 Simple 199614349 A . Benign/Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-07-25 -8.7 1.0 Benign/Likely benign 0 -227865 Simple 371654192 C . Benign/Likely benign 2 3 not specified;Left ventricular noncompaction 8 2017-05-30 -11.7 0.6666666666666666 Benign/Likely benign 0 -227866 Simple 201338158 T . Benign/Likely benign 2 3 not specified;Left ventricular noncompaction 8 2017-11-02 -11.7 1.0 Benign/Likely benign 0 -227868 Simple 200643126 C . Likely benign 2 2 not specified 2017-08-18 -5.7 1.0 Likely benign 0 -227869 Simple 201495178 A . Likely benign 2 2 not specified;Left ventricular noncompaction 8 2016-07-15 -5.7 1.5 Likely benign 0 -227870 Simple 761078027 A . Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-02-19 -5.7 1.5 Likely benign 0 -227871 Simple 370195954 T . Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-05-07 -5.7 1.0 Likely benign 0 -227880 Simple 764162597 C . Likely benign 2 2 not specified 2016-09-26 -5.7 1.5 Likely benign 0 -227882 Simple 147731055 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth Neuropathy X;not specified 2017-07-19 -17.7 1.0 Benign/Likely benign 0 -227883 Simple 373271861 A . Likely benign 2 2 not specified 2016-01-19 -5.4 2.0 Likely benign 0 -227893 Simple 562290651 G . Likely benign 2 2 Dilated cardiomyopathy 1DD;not specified 2017-01-20 -5.4 2.0 Likely benign 0 -227895 Simple 397516619 T . Likely benign 2 2 Dilated cardiomyopathy 1DD;not specified 2017-06-19 -5.4 1.5 Likely benign 0 -227902 Simple 188903141 T . Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-02-14 -5.7 1.5 Likely benign 0 -227903 Simple 142977481 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-04-04 -8.7 1.0 Benign/Likely benign 0 -227907 Simple 372943408 T . Benign/Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-05-07 -7.8 2.5 Likely benign 1 -227908 Simple 370297602 T . Benign/Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-05-31 -7.8 2.5 Likely benign 1 -227909 Simple 768161152 T . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-04-17 -5.4 1.5 Likely benign 0 -227913 Simple 372620246 T . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-05-04 -5.7 1.0 Likely benign 0 -227921 Simple 779456443 G . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-05-11 -5.7 1.0 Likely benign 0 -227925 Simple 749683415 A . Likely benign 2 2 Brugada syndrome;not specified 2016-04-25 -5.7 1.5 Likely benign 0 -227927 Simple 564847999 T . Likely benign 2 2 Brugada syndrome;not specified 2017-03-06 -5.7 1.0 Likely benign 0 -227930 Simple 190803993 A . Likely benign 2 2 not specified 2017-08-16 -5.7 1.0 Likely benign 0 -227932 Simple 145731678 A . Benign/Likely benign 2 2 not specified 2016-02-09 -8.100000000000001 2.0 Likely benign 1 -227946 Simple 140889128 G . Benign/Likely benign 2 3 Shprintzen-Goldberg syndrome;not specified 2017-08-15 -11.7 0.6666666666666666 Benign/Likely benign 0 -227947 Simple 368195821 T . Likely benign 2 3 Shprintzen-Goldberg syndrome;not specified 2017-04-18 -8.7 1.0 Benign/Likely benign 1 -227954 Simple 151312678 A . Likely benign 2 2 Primary pulmonary hypertension;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -227956 Simple 142431345 A . Likely benign 2 2 not specified;Rasopathy 2017-07-11 -5.4 1.5 Likely benign 0 -227958 Simple 758935474 A . Likely benign 2 1 not specified 2016-01-12 . 2.0 . 0 -227976 Simple 745904419 A . Likely benign 2 2 not specified 2016-12-09 -5.7 1.5 Likely benign 0 -227977 Simple 528462687 C . Likely benign 2 2 not specified 2016-05-17 -5.7 1.5 Likely benign 0 -227981 Simple 778212970 T . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-03-09 -6.0 0.5 Likely benign 0 -227994 Simple 138185038 A . Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -7.8 2.3333333333333335 Likely benign 0 -228005 Simple 34846301 T . Benign/Likely benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-06-29 -8.7 1.0 Benign/Likely benign 0 -228006 Simple 764925909 A . Likely benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2016-11-28 -5.7 1.5 Likely benign 0 -228013 Simple 370422391 T . Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified 2017-07-31 -4.8 2.5 Likely benign 0 -228018 Simple 559450042 A . Benign/Likely benign 2 2 not specified 2015-12-04 -7.800000000000001 2.5 Likely benign 1 -228019 Simple 746492909 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-06-22 -5.4 1.5 Likely benign 0 -228027 Simple 145992727 A . Likely benign 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-16 -9.0 0.3333333333333333 Benign/Likely benign 1 -228058 Simple 148551876 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-31 -5.7 1.0 Likely benign 0 -228059 Simple 370036981 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-07 -11.7 1.0 Benign/Likely benign 0 -228060 Simple 377639910 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-18 -4.8 2.5 Likely benign 0 -228066 Simple 373223049 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-08 -5.4 2.0 Likely benign 0 -228069 Simple 778742098 A . Likely benign 2 2 not specified 2015-11-05 -5.4 2.0 Likely benign 0 -228070 Simple 749823104 C . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-08 -8.1 2.0 Likely benign 0 -228071 Simple 534803807 A . Likely benign 2 1 not specified 2015-10-01 . 2.0 . 0 -228073 Simple 756229382 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-06 -5.7 1.5 Likely benign 0 -228075 Simple 374117152 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-03 -5.7 1.0 Likely benign 0 -228084 Simple 199772748 T . Benign/Likely benign 2 2 not specified 2017-01-10 -8.7 1.5 Benign/Likely benign 0 -228086 Simple 371447978 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -5.7 1.0 Likely benign 0 -228090 Simple 779075177 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -5.7 1.0 Likely benign 0 -228098 Simple 374281025 A . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-23 -11.7 1.0 Benign/Likely benign 0 -228111 Simple 373587801 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-08 -7.8 3.0 Likely benign 1 -228116 Simple 767152563 T . Benign/Likely benign 2 2 not specified 2015-10-26 -8.100000000000001 2.0 Likely benign 1 -228119 Simple 566188777 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-28 -13.8 1.6666666666666667 Benign/Likely benign 0 -228127 Simple 377017745 A . Likely benign 2 2 not specified 2016-08-02 -5.7 1.5 Likely benign 0 -228128 Simple 771651842 T . Likely benign 2 2 not specified 2017-08-08 -5.7 1.0 Likely benign 0 -228132 Simple 371678190 T . Likely benign 2 2 not specified 2017-03-23 -4.8 2.5 Likely benign 0 -228133 Simple 201567815 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-07 -5.7 1.0 Likely benign 0 -228140 Simple 371884545 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-08 -4.8 3.0 Likely benign 0 -228153 Simple 189187431 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-31 -8.7 1.0 Benign/Likely benign 0 -228157 Simple 750163793 A . Likely benign 2 2 not specified 2016-05-05 -5.7 1.5 Likely benign 0 -228165 Simple 199891245 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-07 -5.7 1.0 Likely benign 0 -228167 Simple 746309005 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-06-25 -6.0 1.0 Likely benign 0 -228168 Simple 547439339 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-24 -5.7 1.5 Likely benign 0 -228174 Simple 368984050 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-27 -5.7 1.0 Likely benign 0 -228178 Simple 151129843 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-04-13 -13.8 1.75 Benign/Likely benign 0 -228181 Simple 562072193 T . Likely benign 2 2 not specified 2016-07-07 -5.7 1.5 Likely benign 0 -228189 Simple 201129413 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-26 -11.7 0.6666666666666666 Benign/Likely benign 0 -228212 Simple 201558076 C . Likely benign 2 2 not specified 2016-12-21 -5.4 2.0 Likely benign 0 -228234 Simple 142700542 T . Likely benign 2 2 not specified 2016-10-14 -5.7 1.5 Likely benign 0 -228235 Simple 750126396 T . Likely benign 2 2 not specified 2016-10-18 -5.7 1.5 Likely benign 0 -228236 Simple 369498603 T . Likely benign 2 3 not specified 2017-08-18 -7.8 2.0 Likely benign 0 -228243 Simple 121909525 G . Pathogenic/Likely pathogenic 2 2 Congenital myopathy;Nemaline myopathy 3 2017-06-30 8.7 1.0 Pathogenic/Likely pathogenic 0 -228251 Simple 753614861 T . Pathogenic/Likely pathogenic 2 2 Primary ciliary dyskinesia 2017-05-03 8.7 1.0 Pathogenic/Likely pathogenic 0 -228264 Simple 779018464 G . Likely pathogenic 2 3 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness 2016-01-21 8.100000000000001 2.0 Likely pathogenic 0 -228276 Simple 184435771 A . Likely pathogenic 2 2 Nonsyndromic hearing loss and deafness;not provided 2017-06-22 5.7 1.0 Likely pathogenic 0 -228284 Simple 876657657 - . Pathogenic/Likely pathogenic 2 2 Nonsyndromic hearing loss and deafness;not provided 2017-03-09 8.7 1.0 Pathogenic/Likely pathogenic 0 -228289 Simple 869025191 G . Pathogenic/Likely pathogenic 2 2 Noonan syndrome;Noonan syndrome 8 2016-10-24 8.7 1.5 Pathogenic/Likely pathogenic 0 -228290 Simple . . . Pathogenic/Likely pathogenic 2 2 Catecholaminergic polymorphic ventricular tachycardia 2017-01-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -228305 Simple 780512337 A . Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2016-04-22 5.7 1.5 Likely pathogenic 0 -228307 Simple 868494032 A . Pathogenic/Likely pathogenic 2 2 Primary dilated cardiomyopathy;not provided 2016-09-14 9.0 1.0 Pathogenic/Likely pathogenic 0 -228322 Simple 869248137 T . Pathogenic 2 3 Primary dilated cardiomyopathy;Dilated cardiomyopathy 1HH;not provided 2016-05-07 16.8 1.6666666666666667 Pathogenic 0 -228323 Simple 80358474 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -228324 Simple 876657678 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-10-18 29.4 1.2 Pathogenic 0 -228325 Simple 876657679 T . Pathogenic 2 2 not provided;Autosomal recessive non-syndromic intellectual disability 2016-03-10 11.4 1.5 Pathogenic/Likely pathogenic 1 -228335 Simple 752924362 A . Pathogenic 2 3 Ciliary dyskinesia, primary, 9;Primary ciliary dyskinesia 2017-06-29 17.4 1.0 Pathogenic 0 -228337 Simple 876657685 . . Pathogenic 2 2 not provided;Hypohidrotic ectodermal dysplasia 2017-10-17 10.8 1.5 Pathogenic/Likely pathogenic 1 -228338 Simple 876657686 . . Pathogenic 2 2 Hypohidrotic X-linked ectodermal dysplasia;Hypohidrotic ectodermal dysplasia 2016-03-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -228355 Simple 200089714 T . Pathogenic 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;not provided;Distal hereditary motor neuronopathy 2017-03-03 17.4 1.3333333333333333 Pathogenic 0 -228357 Simple 876657697 CC . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -228358 Simple 112029328 C . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2016-12-16 25.200000000000003 1.6 Pathogenic 1 -228365 Simple 876657701 T . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-03 11.4 1.5 Pathogenic/Likely pathogenic 1 -228378 Simple 797044564 - . Pathogenic/Likely pathogenic 2 1 Usher syndrome, type 1;not provided 2015-05-28 . 2.0 . 0 -228381 Simple 876657714 T . Pathogenic 2 4 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 23.4 0.5 Pathogenic 0 -228382 Simple 876657715 AA . Pathogenic 2 2 Neurofibromatosis, type 1;not provided 2017-02-10 12.0 1.0 Pathogenic/Likely pathogenic 1 -228395 Simple 876657722 A . Pathogenic/Likely pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2016-01-11 7.5 2.5 Likely pathogenic 1 -228405 Simple 876657727 - . Pathogenic 2 2 Nonsyndromic hearing loss and deafness;not provided 2016-10-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -228409 Simple 727503512 A . Pathogenic/Likely pathogenic 2 3 Primary dilated cardiomyopathy;Left ventricular noncompaction 6;not provided 2017-06-27 17.4 1.0 Pathogenic 1 -228413 Simple 876657730 G . Pathogenic 2 2 Usher syndrome, type 2A;not provided 2017-11-28 11.4 1.0 Pathogenic/Likely pathogenic 1 -228414 Simple 876657731 T . Pathogenic 2 2 Usher syndrome, type 2A;not provided 2017-02-06 11.4 1.5 Pathogenic/Likely pathogenic 1 -228420 Simple 876657735 - . Pathogenic 2 2 Diabetes mellitus AND insipidus with optic atrophy AND deafness 2016-06-21 11.4 1.5 Pathogenic/Likely pathogenic 1 -228421 Simple 143008553 T . Uncertain significance 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228426 Simple 142875103 A . Uncertain significance 2 2 Dilated cardiomyopathy 1O;not specified 2017-06-20 -0.5700000000000001 1.0 Uncertain significance 0 -228435 Simple 143150260 A . Uncertain significance 2 2 not specified 2017-08-01 -0.5700000000000001 1.0 Uncertain significance 0 -228438 Simple 779109533 T . Uncertain significance 2 2 not specified 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -228439 Simple 142354133 A . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2017-08-17 -0.87 1.0 Uncertain significance 0 -228445 Simple 371863168 T . Uncertain significance 2 2 Renal tubular acidosis with progressive nerve deafness;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228456 Simple 572036022 G . Uncertain significance 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-03-16 -0.54 1.5 Uncertain significance 0 -228467 Simple 764732977 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-08 -0.5700000000000001 1.0 Uncertain significance 0 -228470 Simple 200643387 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228474 Simple 762033637 C . Uncertain significance 2 2 not specified;Ciliary dyskinesia, primary, 30 2015-12-01 -0.54 2.0 Uncertain significance 0 -228476 Simple 201097154 A . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228480 Simple 202204597 T . Uncertain significance 2 5 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.47 1.2 Uncertain significance 0 -228481 Simple 758413650 A . Uncertain significance 2 2 not specified;not provided 2017-02-28 -0.54 2.0 Uncertain significance 0 -228489 Simple 200177873 T . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.17 1.25 Uncertain significance 0 -228521 Simple 567709615 A . Uncertain significance 2 2 not specified 2016-09-12 -0.5700000000000001 1.5 Uncertain significance 0 -228523 Simple 139503327 G . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228525 Simple 748731866 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228558 Simple 200758965 A . Uncertain significance 2 2 not specified 2016-03-03 -0.54 2.0 Uncertain significance 0 -228564 Simple 760261757 A . Uncertain significance 2 2 not specified 2016-09-06 -0.5700000000000001 1.5 Uncertain significance 0 -228565 Simple 757435431 - . Uncertain significance 2 2 not specified 2017-05-18 -0.5700000000000001 1.0 Uncertain significance 0 -228600 Simple 777510517 A . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2016-11-08 -0.5700000000000001 1.5 Uncertain significance 0 -228602 Simple 200121200 T . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228604 Simple 143210369 C . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228615 Simple 372858877 T . Uncertain significance 2 2 not specified 2016-12-23 -0.5700000000000001 1.5 Uncertain significance 0 -228624 Simple 368082152 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2017-02-13 -0.5700000000000001 1.5 Uncertain significance 0 -228626 Simple 776784065 - . Uncertain significance 2 2 not specified;Cardiomyopathy, ARVC 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228629 Simple 753406968 A . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;Dilated cardiomyopathy 1BB;not specified 2017-08-01 -0.87 0.6666666666666666 Uncertain significance 0 -228635 Simple 372014020 A . Uncertain significance 2 2 not specified 2016-08-01 -0.5700000000000001 1.5 Uncertain significance 0 -228637 Simple 778636665 G . Uncertain significance 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-11-22 -0.87 1.3333333333333333 Uncertain significance 0 -228641 Simple 760433367 C . Uncertain significance 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2016-06-14 -1.47 1.2 Uncertain significance 0 -228644 Simple 760673242 G . Uncertain significance 2 2 not specified 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -228649 Simple 142078450 A . Uncertain significance 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2016-06-14 -1.47 1.2 Uncertain significance 0 -228653 Simple 766580649 T . Uncertain significance 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2016-06-14 -1.47 1.2 Uncertain significance 0 -228662 Simple 144565124 T . Uncertain significance 2 3 Waardenburg syndrome;not specified;Hirschsprung Disease, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -228665 Simple 149127344 A . Uncertain significance 2 2 Supravalvar aortic stenosis;not specified 2017-02-13 -0.5700000000000001 1.5 Uncertain significance 0 -228675 Simple 201344770 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -228690 Simple 200116659 G . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2016-05-17 -0.5700000000000001 1.5 Uncertain significance 0 -228692 Simple 200653747 C . Uncertain significance 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-02-12 -0.51 2.5 Uncertain significance 0 -228693 Simple 876657812 GGCGGC . Uncertain significance 2 2 not specified;Cardiomyopathy, dilated, 2b 2017-07-25 -0.5700000000000001 1.0 Uncertain significance 0 -228696 Simple 532003876 G . Uncertain significance 2 2 not specified 2017-07-14 -0.54 1.5 Uncertain significance 0 -228712 Simple 201747452 A . Uncertain significance 2 2 not specified 2016-09-13 -0.5700000000000001 1.5 Uncertain significance 0 -228726 Simple 547397177 A . Uncertain significance 2 2 not specified 2017-09-22 -0.5700000000000001 1.0 Uncertain significance 0 -228731 Simple 184863735 G . Uncertain significance 2 2 not specified 2016-02-03 -0.54 2.0 Uncertain significance 0 -228734 Simple 146696590 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -228741 Simple 150326995 T . Uncertain significance 2 3 Bifunctional peroxisomal enzyme deficiency;not specified;Perrault Syndrome 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -228755 Simple 782653485 C . Uncertain significance 2 3 Naxos disease;not specified;Cardiomyopathy, ARVC 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -228758 Simple 11557669 G . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Intermediate 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228759 Simple 374675852 A . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Intermediate 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228760 Simple 876657836 G . Uncertain significance 2 2 not specified 2017-05-23 -0.5700000000000001 1.0 Uncertain significance 0 -228780 Simple 145301300 C . Uncertain significance 2 2 not specified 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -228783 Simple 202176359 A . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1JJ 2017-04-04 -0.5700000000000001 1.0 Uncertain significance 0 -228797 Simple 749520121 A . Uncertain significance 2 2 not specified 2016-11-07 -0.5700000000000001 1.5 Uncertain significance 0 -228822 Simple 367630521 T . Uncertain significance 2 2 not specified 2016-08-17 -0.5700000000000001 1.5 Uncertain significance 0 -228824 Simple 182125538 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228825 Simple 374474061 T . Uncertain significance 2 2 not specified 2016-02-26 -0.54 2.0 Uncertain significance 0 -228831 Simple 370816148 C . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -228840 Simple 876657864 G . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228842 Simple 570166217 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -228846 Simple 746354996 A . Uncertain significance 2 2 not specified;Rasopathy 2017-06-22 -0.5700000000000001 1.0 Uncertain significance 0 -228849 Simple 544242665 A . Uncertain significance 2 2 not specified 2017-01-13 -0.5700000000000001 1.5 Uncertain significance 0 -228870 Simple 376779423 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2016-01-10 -0.54 2.0 Uncertain significance 0 -228872 Simple 767984672 T . Uncertain significance 2 2 not specified 2017-01-21 -0.5700000000000001 1.5 Uncertain significance 0 -228876 Simple 201746408 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228878 Simple 138001307 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228882 Simple 201986144 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228883 Simple 371859345 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-07-28 -0.54 1.5 Uncertain significance 0 -228886 Simple 556536964 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2016-10-27 -0.5700000000000001 1.5 Uncertain significance 0 -228888 Simple 367663906 C . Uncertain significance 2 2 not specified 2017-08-24 -0.5700000000000001 1.0 Uncertain significance 0 -228890 Simple 543585784 T . Uncertain significance 2 4 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.14 1.5 Uncertain significance 0 -228895 Simple 780726611 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2016-10-08 -0.5700000000000001 1.5 Uncertain significance 0 -228897 Simple 111473291 A . Uncertain significance 2 2 not specified 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -228935 Simple 754220375 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-04-04 -0.5700000000000001 1.5 Uncertain significance 0 -228942 Simple 200249886 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -228974 Simple 375646552 G . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -228981 Simple 142823078 C . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.54 2.0 Uncertain significance 0 -228983 Simple 140154015 T . Uncertain significance 2 3 not specified 2016-12-21 -0.87 1.3333333333333333 Uncertain significance 0 -228995 Simple 146419641 T . Uncertain significance 2 2 not specified 2016-07-08 -0.5700000000000001 1.5 Uncertain significance 0 -228999 Simple 201839693 T . Uncertain significance 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.47 1.2 Uncertain significance 0 -229004 Simple 201489714 A . Uncertain significance 2 3 not specified;not provided 2016-12-31 -0.81 2.0 Uncertain significance 0 -229005 Simple 199810429 A . Uncertain significance 2 5 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.44 1.4 Uncertain significance 0 -229018 Simple 375858580 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2016-03-07 -0.5700000000000001 1.5 Uncertain significance 0 -229036 Simple 750655311 A . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1KK 2016-04-27 -0.6 1.0 Uncertain significance 0 -229041 Simple 375909006 A . Uncertain significance 2 3 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-05-08 -0.87 1.0 Uncertain significance 0 -229049 Simple 139809958 A . Uncertain significance 2 2 not specified 2017-01-20 -0.5700000000000001 1.5 Uncertain significance 0 -229054 Simple 539665448 G . Uncertain significance 2 2 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified 2016-08-15 -0.5700000000000001 1.5 Uncertain significance 0 -229055 Simple 876657928 - . Uncertain significance 2 2 not specified 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -229064 Simple 371151718 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-05-14 -0.54 2.0 Uncertain significance 0 -229077 Simple 774929350 G . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -229088 Simple 117005078 T . Uncertain significance 2 2 not specified 2017-08-01 -0.5700000000000001 1.0 Uncertain significance 0 -229109 Simple 189159426 G . Uncertain significance 2 2 not specified;Deafness, autosomal recessive 18b 2017-07-13 -0.5700000000000001 1.0 Uncertain significance 0 -229124 Simple 143664462 A . Uncertain significance 2 2 not specified 2017-08-23 -0.5700000000000001 1.0 Uncertain significance 0 -229145 Simple 866789949 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2016-06-10 -0.5700000000000001 1.5 Uncertain significance 0 -229147 Simple 201580443 A . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-08-11 -0.87 1.0 Uncertain significance 0 -229156 Simple 200562747 T . Uncertain significance 2 2 not specified 2017-09-19 -0.5700000000000001 1.0 Uncertain significance 0 -229164 Simple 370046582 T . Uncertain significance 2 3 not specified;Left ventricular noncompaction 8 2016-11-28 -0.87 1.3333333333333333 Uncertain significance 0 -229165 Simple 145632008 A . Uncertain significance 2 2 not specified 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -229172 Simple 876657963 A . Uncertain significance 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2017-03-07 -0.5700000000000001 1.0 Uncertain significance 0 -229175 Simple 876657965 AT . Uncertain significance 2 2 not specified;Rasopathy 2016-12-25 -0.5700000000000001 1.5 Uncertain significance 0 -229182 Simple 876657971 A . Uncertain significance 2 2 not specified 2017-04-19 -0.5700000000000001 1.0 Uncertain significance 0 -229201 Simple 876657980 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-29 -0.5700000000000001 1.5 Uncertain significance 0 -229215 Simple 754520058 G . Uncertain significance 2 2 not specified 2017-09-26 -0.5700000000000001 1.0 Uncertain significance 0 -229223 Simple 752607318 T . Uncertain significance 2 2 not specified 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -229226 Simple 876657994 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-10-08 -0.5700000000000001 1.5 Uncertain significance 0 -229236 Simple 771018427 T . Uncertain significance 2 2 not specified 2017-02-01 -0.54 2.0 Uncertain significance 0 -229238 Simple 149484264 T . Uncertain significance 2 3 not specified;Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism, Type I, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -229252 Simple 200717031 A . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -229263 Simple 199898869 A . Uncertain significance 2 3 Noonan syndrome;not specified;Gingival fibromatosis 2016-06-14 -0.84 1.6666666666666667 Uncertain significance 0 -229269 Simple 147474792 T . Uncertain significance 2 2 Legius syndrome;not specified 2015-12-25 -0.54 2.0 Uncertain significance 0 -229293 Simple 200502160 A . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -229298 Simple 144844263 A . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -229303 Simple 758272613 G . Uncertain significance 2 2 not specified 2016-09-07 -0.5700000000000001 1.5 Uncertain significance 0 -229314 Simple 749491943 A . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.5700000000000001 1.5 Uncertain significance 0 -229345 Simple 200243235 C . Uncertain significance 2 4 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-19 -1.17 0.75 Uncertain significance 0 -229347 Simple 374355537 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-28 -0.5700000000000001 1.0 Uncertain significance 0 -229350 Simple 376214235 C . Uncertain significance 2 3 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-08-07 -0.87 0.6666666666666666 Uncertain significance 0 -229388 Simple 760722200 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-10 -0.54 1.5 Uncertain significance 0 -229392 Simple 775293848 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-04-10 -0.5700000000000001 1.5 Uncertain significance 0 -229396 Simple 876658043 A . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -229399 Simple 201420077 G . Uncertain significance 2 2 not specified 2016-08-29 -0.5700000000000001 1.5 Uncertain significance 0 -229403 Simple 549604128 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -229405 Simple 183499397 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -229409 Simple 876658050 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-06 -0.5700000000000001 1.0 Uncertain significance 0 -229420 Simple 766957102 C . Uncertain significance 2 2 not specified 2016-01-08 -0.54 2.0 Uncertain significance 0 -229421 Simple 368777046 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -229422 Simple 577901623 T . Uncertain significance 2 2 not specified 2016-03-23 -0.54 2.0 Uncertain significance 0 -229425 Simple 765503214 C . Uncertain significance 2 2 not specified 2016-03-18 -0.5700000000000001 1.5 Uncertain significance 0 -229431 Simple 876658058 - . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -229443 Simple 771027745 A . Uncertain significance 2 2 not specified 2016-09-05 -0.5700000000000001 1.5 Uncertain significance 0 -229444 Simple 145308734 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-01-06 -0.5700000000000001 1.5 Uncertain significance 0 -229445 Simple 769784536 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -0.5700000000000001 1.0 Uncertain significance 0 -229447 Simple 764682084 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-04 -0.5700000000000001 1.5 Uncertain significance 0 -229453 Simple 142395261 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-05-20 -0.54 2.0 Uncertain significance 0 -229454 Simple 773027240 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-06 -0.5700000000000001 1.0 Uncertain significance 0 -229457 Simple 762214300 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-23 -0.5700000000000001 1.5 Uncertain significance 0 -229458 Simple 371538664 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-23 -0.5700000000000001 1.0 Uncertain significance 0 -229461 Simple 182445366 A . Uncertain significance 2 2 not specified 2016-03-18 -0.5700000000000001 1.5 Uncertain significance 0 -229462 Simple 201623791 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-10 -0.5700000000000001 1.0 Uncertain significance 0 -229466 Simple 375000725 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-12 -0.5700000000000001 1.0 Uncertain significance 0 -229467 Simple 377000174 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-31 -0.84 1.0 Uncertain significance 0 -229469 Simple 876658068 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-20 -0.5700000000000001 1.5 Uncertain significance 0 -229480 Simple 771358314 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-03 -0.5700000000000001 1.0 Uncertain significance 0 -229489 Simple 756099303 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-30 -0.5700000000000001 1.0 Uncertain significance 0 -229491 Simple 199643269 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-08 -0.54 2.0 Uncertain significance 0 -229496 Simple 771898264 - . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -229499 Simple 200493270 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-12 -0.54 1.5 Uncertain significance 0 -229504 Simple 777009984 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-07-06 -0.5700000000000001 1.5 Uncertain significance 0 -229505 Simple 876658080 C . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -229507 Simple 369671334 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-12 -0.5700000000000001 1.0 Uncertain significance 0 -229515 Simple 559907766 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -229517 Simple 192468365 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-12 -2.37 1.0 Uncertain significance 0 -229519 Simple 377754701 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -229523 Simple 536183519 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-16 -0.5700000000000001 1.0 Uncertain significance 0 -229524 Simple 375211424 T . Uncertain significance 2 2 not specified 2016-08-25 -0.6 1.0 Uncertain significance 0 -229530 Simple 761633407 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-05 -0.5700000000000001 1.5 Uncertain significance 0 -229539 Simple 753966916 A . Uncertain significance 2 2 not specified 2017-05-30 -0.5700000000000001 1.0 Uncertain significance 0 -229540 Simple 750806089 C . Uncertain significance 2 2 not specified 2017-05-30 -0.5700000000000001 1.0 Uncertain significance 0 -229541 Simple 759474127 G . Uncertain significance 2 2 not specified 2017-05-30 -0.5700000000000001 1.0 Uncertain significance 0 -229543 Simple 570464905 A . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-05 -2.6399999999999997 1.0 Uncertain significance 0 -229549 Simple 374063064 T . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-03-24 -2.37 1.0 Uncertain significance 0 -229551 Simple 373876117 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-22 -0.87 1.0 Uncertain significance 0 -229552 Simple 750047570 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.04 1.2857142857142858 Uncertain significance 0 -229554 Simple 55915651 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-04-29 -0.5700000000000001 1.5 Uncertain significance 0 -229558 Simple 189626540 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-12 -0.5700000000000001 1.0 Uncertain significance 0 -229561 Simple 200675195 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -229563 Simple 141093658 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-14 -0.5700000000000001 1.0 Uncertain significance 0 -229565 Simple 376371272 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-27 -0.5700000000000001 1.0 Uncertain significance 0 -229566 Simple 761105256 A . Uncertain significance 2 2 not specified 2015-11-06 -0.54 2.0 Uncertain significance 0 -229569 Simple 371528685 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -229575 Simple 201298767 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-08 -0.54 2.0 Uncertain significance 0 -229595 Simple 763065439 G . Uncertain significance 2 2 not specified 2015-09-29 -0.54 2.0 Uncertain significance 0 -229596 Simple 774027595 C . Uncertain significance 2 2 Amyloidogenic transthyretin amyloidosis;not specified 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -229632 Simple 201020802 G . Uncertain significance 2 2 Dilated cardiomyopathy 1W;not specified 2017-04-06 -0.5700000000000001 1.0 Uncertain significance 0 -229640 Simple 876658119 G . Uncertain significance 2 3 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -229653 Simple 771859047 - . Benign/Likely benign 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-19 -13.200000000000001 2.6666666666666665 Benign/Likely benign 0 -229654 Simple 773045221 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.8 Benign/Likely benign 1 -229655 Simple 762378787 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.5 2.0 Benign/Likely benign 1 -229657 Simple 876658123 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-21 -6.0 1.0 Likely benign 0 -229660 Simple 373685150 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-26 -5.7 1.0 Likely benign 0 -229661 Simple 876658126 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.4 2.0 Likely benign 0 -229664 Simple 371599283 A . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -8.4 1.3333333333333333 Benign/Likely benign 1 -229672 Simple 876658134 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-01 -8.1 1.6666666666666667 Likely benign 0 -229675 Simple 201118107 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -229677 Simple 377153250 A . Pathogenic 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-12 18.0 0.3333333333333333 Pathogenic 0 -229679 Simple 756782634 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-25 -0.54 2.0 Uncertain significance 0 -229681 Simple 876658138 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -229683 Simple 876658140 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -229686 Simple 375883981 C . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.0 Uncertain significance 0 -229690 Simple 758045139 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-25 -5.1 2.5 Likely benign 0 -229691 Simple 777554369 A . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.17 0.75 Uncertain significance 0 -229693 Simple 372201428 C . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-09-18 -0.6 0.0 Uncertain significance 0 -229695 Simple 199474755 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -229696 Simple 876658147 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-13 -0.5700000000000001 1.5 Uncertain significance 0 -229697 Simple 876658148 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -229699 Simple 751603479 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-26 -5.4 1.5 Likely benign 0 -229700 Simple 876658150 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-18 -0.5700000000000001 1.0 Uncertain significance 0 -229704 Simple 772607568 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-03-02 -0.54 2.0 Uncertain significance 0 -229709 Simple 764039368 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-11 -5.4 2.0 Likely benign 0 -229711 Simple 765166082 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-03 -8.1 1.6666666666666667 Likely benign 0 -229716 Simple 115386788 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -229719 Simple 372365287 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-05-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -229721 Simple 876658161 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-24 -0.6 0.5 Uncertain significance 0 -229723 Simple 746475628 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -0.8999999999999999 0.0 Uncertain significance 0 -229727 Simple 876658162 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-20 -5.4 2.0 Likely benign 0 -229729 Simple 876658163 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-19 10.8 1.5 Pathogenic/Likely pathogenic 1 -229730 Simple 876658164 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-10-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -229732 Simple 753424167 T . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-13 -5.4 1.5 Likely benign 0 -229734 Simple 750972729 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-03 -0.54 1.5 Uncertain significance 0 -229735 Simple 786201328 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -229737 Simple 750495335 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.3333333333333333 Likely benign 0 -229738 Simple 764023822 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-24 -0.6 1.0 Uncertain significance 0 -229741 Simple 150440246 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -229746 Simple 876658169 G . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -14.1 1.25 Benign/Likely benign 0 -229748 Simple 876658170 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-02-08 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -229752 Simple 763098407 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-08 -8.4 1.0 Benign/Likely benign 1 -229753 Simple 876658173 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.87 0.6666666666666666 Uncertain significance 0 -229755 Simple 876658175 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-25 -0.51 2.5 Uncertain significance 0 -229756 Simple 753002904 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -229762 Simple 876658179 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -5.4 1.5 Likely benign 0 -229770 Simple 757268664 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-28 -0.6 1.0 Uncertain significance 0 -229772 Simple 876658185 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-19 -5.4 1.5 Likely benign 0 -229774 Simple 755587950 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-30 -0.54 2.0 Uncertain significance 0 -229775 Simple 876658187 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -229777 Simple 876658189 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -229778 Simple 369854269 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -1.2 0.25 Uncertain significance 0 -229779 Simple 876658190 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-12-25 -0.51 2.5 Uncertain significance 0 -229781 Simple 80358593 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 16.8 2.0 Pathogenic 0 -229784 Simple 876658192 AA . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-05-04 8.4 1.5 Pathogenic/Likely pathogenic 0 -229787 Simple 753189381 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -229788 Simple 876658195 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-18 -0.8999999999999999 0.0 Uncertain significance 0 -229790 Simple 876658196 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-24 -1.17 1.0 Uncertain significance 0 -229791 Simple 754222140 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -229795 Simple 876658198 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -0.54 2.0 Uncertain significance 0 -229805 Simple 876658208 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-19 -0.5700000000000001 1.0 Uncertain significance 0 -229806 Simple 11552822 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-12-21 -0.54 2.0 Uncertain significance 0 -229807 Simple 876658209 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-15 -0.54 2.0 Uncertain significance 0 -229808 Simple 876658210 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-08 -5.4 2.0 Likely benign 0 -229811 Simple 780475484 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-12-06 -0.54 2.0 Uncertain significance 0 -229812 Simple 138584384 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-13 -0.6 0.5 Uncertain significance 0 -229816 Simple 876658214 G . Pathogenic/Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2014-12-29 6.0 4.0 Likely pathogenic 1 -229826 Simple 140263969 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -229828 Simple 876658224 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-18 -5.1 2.5 Likely benign 0 -229829 Simple 587781458 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 -0.6 0.5 Uncertain significance 0 -229832 Simple 747844776 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-19 -11.4 1.25 Benign/Likely benign 1 -229833 Simple 876658226 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -229836 Simple 765027485 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-20 -0.6 0.5 Uncertain significance 0 -229840 Simple 876658231 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-10 -0.5700000000000001 1.5 Uncertain significance 0 -229843 Simple 876658233 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-19 -0.6 0.5 Uncertain significance 0 -229844 Simple 147188807 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-05 -5.4 1.5 Likely benign 0 -229848 Simple 760649828 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-12 -0.54 1.5 Uncertain significance 0 -229849 Simple 542928573 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-03 -8.4 1.3333333333333333 Benign/Likely benign 1 -229855 Simple 779005784 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-10 -5.4 1.5 Likely benign 0 -229857 Simple 876658237 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-25 -0.5700000000000001 1.0 Uncertain significance 0 -229859 Simple 758873844 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -0.84 1.0 Uncertain significance 0 -229861 Simple 769436449 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-10 -0.54 2.0 Uncertain significance 0 -229862 Simple 757305097 G . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -1.17 0.5 Uncertain significance 0 -229864 Simple 764790965 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -11.4 1.0 Benign/Likely benign 1 -229867 Simple 752373316 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-28 -0.54 2.0 Uncertain significance 0 -229869 Simple 140333740 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-18 -0.6 0.5 Uncertain significance 0 -229874 Simple 141329176 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-28 -1.2 0.5 Uncertain significance 0 -229875 Simple 587781539 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -229880 Simple 876658248 - . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-28 19.8 1.5 Pathogenic 1 -229881 Simple 397507859 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-30 -1.2 1.0 Uncertain significance 0 -229882 Simple 876658249 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-28 -0.6 0.0 Uncertain significance 0 -229883 Simple 780921112 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-08-10 -0.8999999999999999 0.0 Uncertain significance 0 -229888 Simple 876658253 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-14 -0.8999999999999999 0.0 Uncertain significance 0 -229889 Simple 753262623 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -229890 Simple 768278082 A . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-02-08 -5.4 2.0 Likely benign 0 -229893 Simple 759078497 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-15 -11.4 1.25 Benign/Likely benign 1 -229895 Simple 748912293 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-01 -0.6 0.5 Uncertain significance 0 -229897 Simple 757225144 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-23 -0.87 1.0 Uncertain significance 0 -229899 Simple 140693106 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -229900 Simple 876658258 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -229903 Simple 758654836 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 -8.4 1.3333333333333333 Benign/Likely benign 1 -229904 Simple 544688816 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-02-19 -0.48 3.0 Uncertain significance 0 -229911 Simple 371578074 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-19 -5.4 1.5 Likely benign 0 -229914 Simple 876658265 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -229916 Simple 876658266 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-19 -0.54 1.5 Uncertain significance 0 -229918 Simple 751124745 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -0.5700000000000001 1.0 Uncertain significance 0 -229927 Simple 876658274 T . Likely benign 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -8.4 1.0 Benign/Likely benign 1 -229928 Simple 876658275 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-22 -5.4 2.0 Likely benign 0 -229930 Simple 876658277 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-11 -0.54 2.0 Uncertain significance 0 -229934 Simple 876658280 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-12-07 -5.1 2.5 Likely benign 0 -229935 Simple 876658281 TCCTCGGCTGCCGGTTCCTCGGCTGCCGGT . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-28 -0.6 1.0 Uncertain significance 0 -229936 Simple 876658282 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -229938 Simple 876658283 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-08-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -229942 Simple 876658287 - . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-06-06 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -229944 Simple 876658289 A . Conflicting interpretations of pathogenicity 1 2 Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-10-05 -0.54 1.5 Uncertain significance 0 -229950 Simple 876658294 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 28.8 1.4 Pathogenic 0 -229953 Simple 876658297 - . Pathogenic 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-04-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -229955 Simple 12786957 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-27 -0.6 1.0 Uncertain significance 0 -229957 Simple 876658300 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -1.2 0.25 Uncertain significance 0 -229961 Simple 876658303 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-02 -0.54 2.0 Uncertain significance 0 -229963 Simple 751494750 A . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -5.4 1.5 Likely benign 0 -229967 Simple 876658307 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -229970 Simple 587779809 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-07-22 -0.54 2.0 Uncertain significance 0 -229973 Simple 774446640 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -229974 Simple 876658311 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 -0.8999999999999999 0.0 Uncertain significance 0 -229977 Simple 765043916 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-15 -0.5700000000000001 1.0 Uncertain significance 0 -229982 Simple 876658316 A . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-27 -5.4 1.5 Likely benign 0 -229983 Simple 137888190 A . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -11.1 1.5 Benign/Likely benign 1 -229986 Simple 876658319 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -229989 Simple 778251286 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -229990 Simple 876658322 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-07 -0.6 0.5 Uncertain significance 0 -229992 Simple 768177978 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-11 -8.4 1.0 Benign/Likely benign 1 -229993 Simple 773201570 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -1.17 0.75 Uncertain significance 0 -229994 Simple 376524155 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -229997 Simple 876658325 T . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -229999 Simple 758893131 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-10-12 -0.5700000000000001 1.5 Uncertain significance 0 -230000 Simple 876658327 T . Uncertain significance 2 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2016-12-28 -0.6 1.0 Uncertain significance 0 -230001 Simple 770203548 A . Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -11.4 1.0 Benign/Likely benign 1 -230003 Simple 751273275 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-09 -5.4 1.5 Likely benign 0 -230005 Simple 755860432 A . Benign/Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-18 -14.100000000000001 1.25 Benign/Likely benign 0 -230006 Simple 375275361 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-03 -0.8999999999999999 1.0 Uncertain significance 0 -230007 Simple 876658329 AA . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-11 10.8 2.0 Pathogenic/Likely pathogenic 1 -230009 Simple 751778243 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-24 -0.6 1.0 Uncertain significance 0 -230012 Simple 759046999 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-04-15 -8.1 2.0 Likely benign 0 -230014 Simple 759130031 T . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-01-10 9.0 1.0 Pathogenic/Likely pathogenic 0 -230015 Simple 745774944 A . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-16 -8.1 2.0 Likely benign 0 -230020 Simple 764801872 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-07-27 -5.4 2.0 Likely benign 0 -230021 Simple 876658334 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-05 -0.54 1.5 Uncertain significance 0 -230022 Simple 876658335 A . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -11.4 1.25 Benign/Likely benign 1 -230023 Simple 150980616 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-15 -0.6 1.0 Uncertain significance 0 -230025 Simple 876658337 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-05-16 -0.87 1.3333333333333333 Uncertain significance 0 -230031 Simple 80359073 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-07-24 -0.81 1.6666666666666667 Uncertain significance 0 -230032 Simple 876658341 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230033 Simple 200552004 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230034 Simple 876658342 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-05-05 -0.54 2.0 Uncertain significance 0 -230038 Simple 375346290 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-27 -0.87 1.0 Uncertain significance 0 -230042 Simple 876658347 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-10-11 -0.5700000000000001 1.0 Uncertain significance 0 -230047 Simple 876658352 - . Benign/Likely benign 2 2 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -8.7 1.0 Benign/Likely benign 0 -230049 Simple 876658354 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-29 -0.54 1.5 Uncertain significance 0 -230052 Simple 776810546 T . Likely benign 2 4 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-10-18 -11.1 1.25 Benign/Likely benign 1 -230053 Simple 372581879 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230054 Simple 750500173 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-02-23 -0.54 2.0 Uncertain significance 0 -230064 Simple 758180727 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -230065 Simple 116679717 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-09-23 -0.5700000000000001 1.5 Uncertain significance 0 -230066 Simple 876658365 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -0.54 1.5 Uncertain significance 0 -230067 Simple 753204096 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -0.84 1.3333333333333333 Uncertain significance 0 -230068 Simple 876658366 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230070 Simple 876658367 T . Pathogenic 2 3 Paragangliomas 4;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-02-21 16.8 1.6666666666666667 Pathogenic 0 -230071 Simple 876658368 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-23 -8.1 2.0 Likely benign 0 -230073 Simple 273899688 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230076 Simple 876658371 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-11 -0.5700000000000001 1.5 Uncertain significance 0 -230081 Simple 373719554 T . Benign/Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -10.8 1.6666666666666667 Benign/Likely benign 0 -230082 Simple 864622206 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-04 -0.54 1.5 Uncertain significance 0 -230083 Simple 876658376 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -230086 Simple 876658379 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -5.4 2.0 Likely benign 0 -230089 Simple 143920945 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-03 -0.54 2.0 Uncertain significance 0 -230092 Simple 369843642 G . Likely benign 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-06-29 -14.1 1.4 Benign/Likely benign 1 -230095 Simple 876658383 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-29 -0.87 1.0 Uncertain significance 0 -230096 Simple 876658384 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-09 -8.4 1.3333333333333333 Benign/Likely benign 1 -230098 Simple 876658385 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-13 -0.5700000000000001 1.5 Uncertain significance 0 -230099 Simple 876658386 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-20 -0.54 2.0 Uncertain significance 0 -230102 Simple 41286296 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -0.5700000000000001 1.0 Uncertain significance 0 -230104 Simple 876658390 - . Pathogenic 2 3 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-05-11 16.8 1.3333333333333333 Pathogenic 0 -230107 Simple 587780035 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-11 10.8 2.0 Pathogenic/Likely pathogenic 1 -230109 Simple 876658393 T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-13 -5.4 1.5 Likely benign 0 -230110 Simple 772148227 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-24 -5.4 2.0 Likely benign 0 -230114 Simple 876658395 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-11 -0.81 2.0 Uncertain significance 0 -230123 Simple 876658401 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230124 Simple 876658402 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-07-14 10.2 2.5 Pathogenic/Likely pathogenic 1 -230130 Simple 876658189 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230131 Simple 771068208 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-09-27 -0.54 2.0 Uncertain significance 0 -230135 Simple 774669878 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-12 -0.5700000000000001 1.0 Uncertain significance 0 -230136 Simple 754023358 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-27 -5.4 1.5 Likely benign 0 -230137 Simple 876658409 T . Pathogenic 2 3 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-04-17 16.8 1.3333333333333333 Pathogenic 0 -230140 Simple 876658411 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-11-15 -0.6 1.0 Uncertain significance 0 -230141 Simple 750089867 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-10 -0.87 1.0 Uncertain significance 0 -230142 Simple 778212685 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.5 Uncertain significance 0 -230143 Simple 538383136 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -230144 Simple 867514913 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-15 -8.4 1.3333333333333333 Benign/Likely benign 1 -230145 Simple 876658412 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-19 -0.54 1.5 Uncertain significance 0 -230149 Simple 730881522 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230150 Simple 748156170 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-20 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -230151 Simple 876658414 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-21 -5.4 2.0 Likely benign 0 -230153 Simple 755716475 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -0.6 0.0 Uncertain significance 0 -230154 Simple 863225327 C . Likely pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-08 5.4 2.0 Likely pathogenic 0 -230157 Simple 876658418 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -230158 Simple 141545966 G . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-05-02 -5.4 1.5 Likely benign 0 -230159 Simple 876658419 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.0 Uncertain significance 0 -230161 Simple 876658420 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230163 Simple 765969190 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -8.4 1.3333333333333333 Benign/Likely benign 1 -230164 Simple 876658422 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-11-27 -5.1 2.5 Likely benign 0 -230165 Simple 876658423 C . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230166 Simple 876658424 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-03 -0.6 1.0 Uncertain significance 0 -230168 Simple 777245630 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-20 -5.1 2.5 Likely benign 0 -230174 Simple 140926102 C . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-08-15 -5.4 2.0 Likely benign 0 -230175 Simple 863224729 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-11-21 -0.54 2.0 Uncertain significance 0 -230186 Simple 773489367 G . Likely benign 2 5 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-04-20 -14.4 1.0 Benign/Likely benign 1 -230188 Simple 535414791 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -0.8999999999999999 0.0 Uncertain significance 0 -230189 Simple 532255760 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2016-12-21 -0.54 2.0 Uncertain significance 0 -230190 Simple 876658437 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-25 -0.5700000000000001 1.0 Uncertain significance 0 -230192 Simple 876658439 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-20 -0.6 1.0 Uncertain significance 0 -230193 Simple 876658440 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-17 -0.54 1.5 Uncertain significance 0 -230195 Simple 745700206 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -1.2 0.5 Uncertain significance 0 -230196 Simple 876658442 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230200 Simple 587776548 - . Pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-01 30.0 0.6 Pathogenic 0 -230201 Simple 750911401 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-01-22 -0.6 1.0 Uncertain significance 0 -230206 Simple 778989252 A . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 18.0 0.5 Pathogenic 1 -230209 Simple 876658449 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-21 -0.5700000000000001 1.5 Uncertain significance 0 -230211 Simple 760538709 C . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-06 -1.2 0.5 Uncertain significance 0 -230217 Simple 371122101 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.0 Uncertain significance 0 -230218 Simple 876658450 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-13 -0.6 0.5 Uncertain significance 0 -230221 Simple 759242666 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230223 Simple 777259845 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230225 Simple 876658452 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-27 -5.1 2.5 Likely benign 0 -230233 Simple 876658456 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-07 -0.54 2.0 Uncertain significance 0 -230235 Simple 749631904 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-04-13 -5.4 1.5 Likely benign 0 -230236 Simple 876658457 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-01 -0.5700000000000001 1.0 Uncertain significance 0 -230237 Simple 775735278 TT . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2017-08-15 21.0 0.25 Pathogenic 1 -230239 Simple 61758782 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-01 -5.4 1.5 Likely benign 0 -230242 Simple 876658460 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230243 Simple 876658461 A . Pathogenic 2 3 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2016-04-23 17.4 1.3333333333333333 Pathogenic 0 -230245 Simple 786201452 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-13 -8.4 1.0 Benign/Likely benign 1 -230251 Simple 774196176 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.5 Uncertain significance 0 -230252 Simple 62625273 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-29 -8.4 1.0 Benign/Likely benign 1 -230256 Simple 876658468 A . Likely pathogenic 2 2 Liver cancer;Chronic lymphocytic leukemia;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Adenocarcinoma of lung;Squamous cell carcinoma of lung;Acute myeloid leukemia;not provided;Neoplasm of brain;Neoplasm of the breast;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Papillary renal cell carcinoma, sporadic;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2016-08-01 5.4 2.0 Likely pathogenic 0 -230257 Simple 80359069 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230258 Simple 876658469 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -7.5 2.6666666666666665 Likely benign 0 -230261 Simple 544212043 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230263 Simple 876658472 - . Pathogenic 2 1 Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2015-02-03 . 3.0 . 0 -230265 Simple 876658474 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-09 -8.1 1.6666666666666667 Likely benign 0 -230266 Simple 151198586 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.2 0.25 Uncertain significance 0 -230267 Simple 752091655 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230268 Simple 199929178 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-25 -5.4 2.0 Likely benign 0 -230272 Simple 876658475 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-19 -5.7 1.0 Likely benign 0 -230274 Simple 876658477 G . Uncertain significance 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-07-28 -0.54 1.5 Uncertain significance 0 -230278 Simple 80358861 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-09 -0.84 1.3333333333333333 Uncertain significance 0 -230279 Simple 779150753 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-14 -0.51 2.5 Uncertain significance 0 -230281 Simple 876658481 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-12 -0.6 0.5 Uncertain significance 0 -230283 Simple 876658482 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-29 -0.6 1.0 Uncertain significance 0 -230287 Simple 786202484 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-22 -0.54 2.0 Uncertain significance 0 -230289 Simple 775547651 A . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-25 -5.4 1.5 Likely benign 0 -230291 Simple 780709321 T . Benign/Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-28 -13.8 1.75 Benign/Likely benign 0 -230294 Simple 755658014 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-25 -5.4 1.5 Likely benign 0 -230299 Simple 876658491 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.0 Uncertain significance 0 -230300 Simple 11545695 A . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230303 Simple 372951842 C . Benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -26.4 1.2 Benign 0 -230305 Simple 876658494 A . Uncertain significance 2 5 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -1.41 1.4 Uncertain significance 0 -230306 Simple 35993958 T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-01-12 -0.5700000000000001 1.5 Uncertain significance 0 -230313 Simple 375029767 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-09 -0.6 0.5 Uncertain significance 0 -230314 Simple 750480943 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-19 -0.6 1.0 Uncertain significance 0 -230316 Simple 876658501 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-01-19 -0.6 1.0 Uncertain significance 0 -230317 Simple 550914672 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-26 -1.17 1.0 Uncertain significance 0 -230318 Simple 876658502 AA . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-06 18.0 0.6666666666666666 Pathogenic 0 -230320 Simple 578022079 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -1.2 0.25 Uncertain significance 0 -230321 Simple 876658503 C . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-27 -5.4 1.5 Likely benign 0 -230324 Simple 748834249 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230325 Simple 748920792 C . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 -11.1 1.25 Benign/Likely benign 1 -230326 Simple 876658506 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.54 1.5 Uncertain significance 0 -230327 Simple 515726112 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-13 -5.4 2.0 Likely benign 0 -230328 Simple 775688446 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-17 -8.4 1.3333333333333333 Benign/Likely benign 1 -230332 Simple 757481515 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-10-03 -0.6 0.5 Uncertain significance 0 -230333 Simple 750488772 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-05-05 -5.4 2.0 Likely benign 0 -230337 Simple 369126891 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.2 0.25 Uncertain significance 0 -230339 Simple 766657227 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-25 -0.6 1.0 Uncertain significance 0 -230343 Simple 768425956 C . Uncertain significance 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -230349 Simple 876658518 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230354 Simple 768918982 A . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -230356 Simple 764140747 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-05-10 -0.54 2.0 Uncertain significance 0 -230359 Simple 876658523 T . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-18 -8.4 1.3333333333333333 Benign/Likely benign 1 -230362 Simple 754576828 A . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-19 -8.1 2.0 Likely benign 0 -230363 Simple 760396669 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -230366 Simple 755418571 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -1.2 0.5 Uncertain significance 0 -230368 Simple 876658527 C . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-09-18 -0.6 0.0 Uncertain significance 0 -230374 Simple 876658533 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 0.75 Benign/Likely benign 1 -230375 Simple 876658534 AA . Likely pathogenic 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-01-11 5.4 2.0 Likely pathogenic 0 -230378 Simple 138067005 G . Likely benign 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -20.1 1.2 Benign/Likely benign 1 -230379 Simple 876658535 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-09-12 -0.6 0.0 Uncertain significance 0 -230381 Simple 876658537 A . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-30 -8.4 1.6666666666666667 Benign/Likely benign 1 -230382 Simple 772773208 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.84 1.3333333333333333 Uncertain significance 0 -230386 Simple 763145238 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -230389 Simple 876658541 T . Pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-20 16.8 1.0 Pathogenic 0 -230390 Simple 769653533 A . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -8.4 1.3333333333333333 Benign/Likely benign 1 -230392 Simple 876658543 G . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-29 -5.4 1.5 Likely benign 0 -230394 Simple 202144406 G . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -15.0 0.75 Benign/Likely benign 0 -230396 Simple 16852741 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -1.2 0.5 Uncertain significance 0 -230397 Simple 773211804 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-20 -0.54 1.5 Uncertain significance 0 -230398 Simple 766667186 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-16 -8.4 1.3333333333333333 Benign/Likely benign 1 -230402 Simple 876658547 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230405 Simple 773600515 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-20 -0.8999999999999999 0.0 Uncertain significance 0 -230408 Simple 747272290 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-22 -5.4 1.5 Likely benign 0 -230409 Simple 876658550 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-20 -5.4 1.5 Likely benign 0 -230410 Simple 759547024 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-11-20 -5.4 2.0 Likely benign 0 -230413 Simple 772261410 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-21 -5.4 2.0 Likely benign 0 -230416 Simple 779145081 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230418 Simple 763266925 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-24 -0.54 1.5 Uncertain significance 0 -230422 Simple 778354962 G . Likely benign 2 5 Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-06 -14.4 1.0 Benign/Likely benign 1 -230423 Simple 876658557 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-15 -0.8999999999999999 1.0 Uncertain significance 0 -230428 Simple 876658560 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230430 Simple 760676955 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230436 Simple 548111162 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-08-03 -0.5700000000000001 1.5 Uncertain significance 0 -230438 Simple 750771205 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-21 -0.87 0.6666666666666666 Uncertain significance 0 -230440 Simple 587782130 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-22 -0.84 1.3333333333333333 Uncertain significance 0 -230443 Simple 876658569 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-26 10.8 2.0 Pathogenic/Likely pathogenic 1 -230445 Simple 200598389 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -230452 Simple 876658576 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230453 Simple 755461310 C . Uncertain significance 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -0.84 1.3333333333333333 Uncertain significance 0 -230455 Simple 756250205 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 18.0 0.3333333333333333 Pathogenic 0 -230457 Simple 746112825 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -0.5700000000000001 1.5 Uncertain significance 0 -230464 Simple 145616741 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-17 -0.51 2.5 Uncertain significance 0 -230465 Simple 876658582 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-21 -0.54 2.0 Uncertain significance 0 -230466 Simple 373605261 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -1.2 0.5 Uncertain significance 0 -230467 Simple 866445127 T . Pathogenic 2 4 Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2018-02-01 22.8 1.0 Pathogenic 0 -230475 Simple 876658588 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-04 -0.6 1.0 Uncertain significance 0 -230478 Simple 876658589 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 16.8 2.0 Pathogenic 0 -230479 Simple 876658590 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230482 Simple 752624544 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-01 -0.54 2.0 Uncertain significance 0 -230485 Simple 876658593 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 16.8 2.0 Pathogenic 0 -230486 Simple 574371474 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230488 Simple 864622384 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-29 -5.1 2.5 Likely benign 0 -230489 Simple 755783122 A . Uncertain significance 2 6 Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -1.74 1.0 Uncertain significance 0 -230490 Simple 876658594 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-03-09 -0.6 0.5 Uncertain significance 0 -230491 Simple 876658595 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -230493 Simple 375968016 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-16 -0.87 1.0 Uncertain significance 0 -230494 Simple 876658596 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230496 Simple 876658598 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-05-05 -0.54 2.0 Uncertain significance 0 -230498 Simple 779776271 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-26 -5.4 1.5 Likely benign 0 -230502 Simple 746117401 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-14 -0.84 1.3333333333333333 Uncertain significance 0 -230503 Simple 765808018 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-01-29 -0.5700000000000001 1.5 Uncertain significance 0 -230504 Simple 876658600 T . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2016-05-16 -0.54 2.0 Uncertain significance 0 -230509 Simple 876658605 C . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-22 -8.4 1.3333333333333333 Benign/Likely benign 1 -230510 Simple 372838622 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230513 Simple 766602873 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-10-14 -0.5700000000000001 1.5 Uncertain significance 0 -230515 Simple 876658607 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230516 Simple 876658608 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230518 Simple 876658610 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230520 Simple 754122018 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-08-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -230524 Simple 764546111 G . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -230525 Simple 876658614 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-13 -0.5700000000000001 1.5 Uncertain significance 0 -230530 Simple 876658619 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230532 Simple 150408832 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.2 0.0 Uncertain significance 0 -230537 Simple 750058876 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-01 -5.4 1.5 Likely benign 0 -230540 Simple 758631207 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -5.4 1.5 Likely benign 0 -230543 Simple 876658623 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-05 -0.5700000000000001 1.0 Uncertain significance 0 -230545 Simple 876658624 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-22 -0.5700000000000001 1.5 Uncertain significance 0 -230547 Simple 876658625 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-01 -0.54 2.0 Uncertain significance 0 -230551 Simple 876658628 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -0.8999999999999999 0.0 Uncertain significance 0 -230556 Simple 876658631 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 16.8 2.0 Pathogenic 0 -230557 Simple 876658632 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230559 Simple 558321010 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.8999999999999999 0.0 Uncertain significance 0 -230561 Simple 876658635 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230565 Simple 876658638 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-25 -5.4 1.5 Likely benign 0 -230569 Simple 876658640 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230570 Simple 766563354 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-07-21 -0.6 1.0 Uncertain significance 0 -230572 Simple 876658641 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-11-09 -0.87 1.3333333333333333 Uncertain significance 0 -230574 Simple 876658642 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -230578 Simple 876658645 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-01 -0.8999999999999999 1.0 Uncertain significance 0 -230580 Simple 777164914 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -8.4 1.3333333333333333 Benign/Likely benign 1 -230582 Simple 876658648 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 16.8 2.0 Pathogenic 0 -230587 Simple 876658652 - . Likely pathogenic 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-01-01 5.1 2.5 Likely pathogenic 0 -230588 Simple 876658653 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-14 -0.54 2.0 Uncertain significance 0 -230589 Simple 876658654 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-27 10.8 2.0 Pathogenic/Likely pathogenic 1 -230591 Simple 751235177 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-04 -0.6 0.0 Uncertain significance 0 -230592 Simple 876658656 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -230593 Simple 778803692 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-28 -8.4 1.3333333333333333 Benign/Likely benign 1 -230594 Simple 775268017 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-07-19 -0.54 1.5 Uncertain significance 0 -230595 Simple 876658657 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230597 Simple 876658658 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-03-02 7.5 2.5 Likely pathogenic 1 -230598 Simple 876658659 C . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-05-12 -5.4 1.5 Likely benign 0 -230599 Simple 377302798 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -230600 Simple 876658660 - . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-06 17.4 1.3333333333333333 Pathogenic 0 -230601 Simple 876658661 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230602 Simple 763230080 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.4 1.0 Benign/Likely benign 1 -230603 Simple 876658662 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-19 -5.4 1.5 Likely benign 0 -230604 Simple 377155248 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-23 -0.6 1.0 Uncertain significance 0 -230607 Simple 876658664 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -230610 Simple 876658667 A . Pathogenic 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-24 16.8 1.3333333333333333 Pathogenic 0 -230611 Simple 149787558 T . Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-16 -11.4 1.0 Benign/Likely benign 1 -230614 Simple 779546178 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-23 -0.5700000000000001 1.5 Uncertain significance 0 -230615 Simple 587780685 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -8.4 1.3333333333333333 Benign/Likely benign 1 -230617 Simple 375084663 T . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-03 -5.4 1.5 Likely benign 0 -230620 Simple 876658669 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-08 -0.5700000000000001 1.5 Uncertain significance 0 -230624 Simple 876658672 T . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 22.8 1.5 Pathogenic 0 -230626 Simple 876658673 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-02 -0.54 2.0 Uncertain significance 0 -230628 Simple 750596499 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -230629 Simple 72661116 A . Likely benign 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-03-03 -8.4 1.6666666666666667 Benign/Likely benign 1 -230633 Simple 772018727 G . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-11-25 -0.54 2.0 Uncertain significance 0 -230634 Simple 876658676 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-04-23 -0.54 2.0 Uncertain significance 0 -230636 Simple 876658678 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-19 -0.54 2.0 Uncertain significance 0 -230640 Simple 758624540 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-14 -0.5700000000000001 1.0 Uncertain significance 0 -230641 Simple 876658680 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-10-09 -0.6 0.0 Uncertain significance 0 -230642 Simple 144969738 A . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2016-10-31 -11.7 1.25 Benign/Likely benign 1 -230644 Simple 876658681 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-03-20 -0.6 0.5 Uncertain significance 0 -230645 Simple 876658682 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-03 -0.5700000000000001 1.0 Uncertain significance 0 -230646 Simple 762174459 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2015-12-25 -0.54 2.0 Uncertain significance 0 -230647 Simple 876658683 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-04 -0.5700000000000001 1.5 Uncertain significance 0 -230648 Simple 876658684 C . Uncertain significance 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-10-24 -0.84 1.0 Uncertain significance 0 -230651 Simple 569947936 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230654 Simple 876658687 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-21 -0.54 1.5 Uncertain significance 0 -230656 Simple 876658689 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-07 -0.5700000000000001 1.5 Uncertain significance 0 -230659 Simple 876658692 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -230665 Simple 143808171 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.0 Uncertain significance 0 -230666 Simple 876658696 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-23 -5.4 2.0 Likely benign 0 -230669 Simple 786201058 C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-10-31 -0.5700000000000001 1.5 Uncertain significance 0 -230671 Simple 540871544 T . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-03-22 -5.7 1.0 Likely benign 0 -230673 Simple 778405030 T . Pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-08-08 16.8 1.3333333333333333 Pathogenic 0 -230678 Simple 876658703 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -230683 Simple 876658706 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230685 Simple 756692505 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230688 Simple 876658709 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-09 -5.7 1.0 Likely benign 0 -230689 Simple 876658710 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -0.5700000000000001 1.0 Uncertain significance 0 -230690 Simple 773895161 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230691 Simple 876658711 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -1.2 0.5 Uncertain significance 0 -230692 Simple 752408891 A . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -10.8 1.6666666666666667 Benign/Likely benign 0 -230694 Simple 876658713 G . Uncertain significance 2 3 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230697 Simple 876658716 A . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-10-06 24.0 0.25 Pathogenic 0 -230698 Simple 376616485 A . Likely benign 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -11.7 0.75 Benign/Likely benign 1 -230699 Simple 757222815 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-07-15 -0.5700000000000001 1.5 Uncertain significance 0 -230700 Simple 876658717 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-29 -5.4 2.0 Likely benign 0 -230701 Simple 753735698 A . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.25 Benign/Likely benign 1 -230702 Simple 767516955 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-19 -8.7 1.0 Benign/Likely benign 1 -230706 Simple 876658719 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -230712 Simple 587780726 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-23 -5.7 1.5 Likely benign 0 -230713 Simple 876658724 AA . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2015-03-06 9.0 3.5 Pathogenic/Likely pathogenic 1 -230715 Simple 747108452 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-22 -0.6 0.5 Uncertain significance 0 -230719 Simple 745825088 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.5 Uncertain significance 0 -230723 Simple 876658728 TT . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-04-03 10.8 2.0 Pathogenic/Likely pathogenic 1 -230724 Simple 368610199 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -0.6 0.5 Uncertain significance 0 -230730 Simple 876658732 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-19 -0.54 1.5 Uncertain significance 0 -230736 Simple 876658737 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -0.6 0.0 Uncertain significance 0 -230737 Simple 755896387 A . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-11 -1.2 0.25 Uncertain significance 0 -230741 Simple 374685908 C . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-10-12 -0.6 0.0 Uncertain significance 0 -230743 Simple 876658740 A . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 9.0 0.5 Pathogenic/Likely pathogenic 0 -230749 Simple 876658745 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-08-24 -0.6 1.0 Uncertain significance 0 -230753 Simple 876658748 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -230755 Simple 876658750 C . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-03 -5.7 1.5 Likely benign 0 -230758 Simple 772354334 T . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.2 0.0 Uncertain significance 0 -230763 Simple 786203505 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-25 -5.7 1.5 Likely benign 0 -230767 Simple 876658757 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -230774 Simple 876658764 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-03 -0.51 2.5 Uncertain significance 0 -230775 Simple 202222149 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-22 -0.87 1.3333333333333333 Uncertain significance 0 -230776 Simple 876658765 C . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-28 -5.4 2.0 Likely benign 0 -230784 Simple 777491507 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-09 -0.5700000000000001 1.5 Uncertain significance 0 -230785 Simple 876658770 T . Pathogenic/Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-08-07 9.0 0.0 Pathogenic/Likely pathogenic 0 -230788 Simple 876658772 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.0 Uncertain significance 0 -230791 Simple 876658775 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -230792 Simple 876658776 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -230793 Simple 876658777 - . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-21 -0.5700000000000001 1.0 Uncertain significance 0 -230794 Simple 876658778 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-26 -5.7 1.0 Likely benign 0 -230795 Simple 876658779 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 -0.5700000000000001 1.0 Uncertain significance 0 -230796 Simple 769053886 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -0.87 1.0 Uncertain significance 0 -230797 Simple 876658780 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.17 0.5 Uncertain significance 0 -230801 Simple 876658784 T . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-03-09 6.0 0.5 Likely pathogenic 0 -230804 Simple 876658785 A . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-19 -5.7 1.5 Likely benign 0 -230806 Simple 758555487 T . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-03 -14.4 1.0 Benign/Likely benign 0 -230807 Simple 139696493 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-31 -5.7 1.0 Likely benign 0 -230808 Simple 748874219 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -230811 Simple 569983068 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.0 Uncertain significance 0 -230817 Simple 876658792 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230820 Simple 753935319 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -230822 Simple 876658794 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-19 -0.87 1.0 Uncertain significance 0 -230824 Simple 373917897 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-30 -0.8999999999999999 0.0 Uncertain significance 0 -230828 Simple 876658797 C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-10-25 -0.5700000000000001 1.5 Uncertain significance 0 -230832 Simple 767523514 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.0 Uncertain significance 0 -230835 Simple 876658800 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -230836 Simple 757944864 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-11 -5.7 1.5 Likely benign 0 -230837 Simple 876658801 C . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-04 -0.87 1.3333333333333333 Uncertain significance 0 -230842 Simple 778608572 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-02-01 -5.4 2.0 Likely benign 0 -230845 Simple 876658806 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-28 -8.7 1.0 Benign/Likely benign 1 -230849 Simple 876658808 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-21 -0.6 1.0 Uncertain significance 0 -230850 Simple 876658809 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-07-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -230851 Simple 752135143 A . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-06-29 8.4 1.5 Pathogenic/Likely pathogenic 0 -230852 Simple 876658810 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -11.7 1.0 Benign/Likely benign 1 -230853 Simple 764080545 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-24 -0.54 2.0 Uncertain significance 0 -230857 Simple 876658812 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.699999999999999 1.5 Likely benign 0 -230858 Simple 758007548 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -230859 Simple 876658813 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-08-07 18.0 0.3333333333333333 Pathogenic 0 -230860 Simple 876658814 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-06 -0.5700000000000001 1.0 Uncertain significance 0 -230863 Simple 876658815 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -230865 Simple 754222140 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -230866 Simple 876658816 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -230867 Simple 78179744 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-16 -8.4 1.0 Benign/Likely benign 1 -230870 Simple 876658817 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -230873 Simple 749309213 T . Uncertain significance 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not provided;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8999999999999999 0.0 Uncertain significance 0 -230875 Simple 376521407 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230876 Simple 876658821 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -230879 Simple 730881419 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-10 -0.6 0.5 Uncertain significance 0 -230880 Simple 371589922 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-23 -5.7 1.0 Likely benign 0 -230884 Simple 1799953 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -230886 Simple 150426576 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-18 -5.7 1.0 Likely benign 0 -230895 Simple 370906735 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -230898 Simple 876658829 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-03-20 -0.51 2.5 Uncertain significance 0 -230903 Simple 779367922 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -230905 Simple 876658833 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -230906 Simple 876658834 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-06-13 11.4 1.0 Pathogenic/Likely pathogenic 1 -230908 Simple 876658835 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -0.54 1.5 Uncertain significance 0 -230909 Simple 876658836 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-05 -8.4 1.6666666666666667 Benign/Likely benign 1 -230911 Simple 876658838 C . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -230912 Simple 876658839 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-05-03 -1.47 1.0 Uncertain significance 0 -230914 Simple 749933079 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -230917 Simple 377310179 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -230918 Simple 876658841 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -230924 Simple 786201965 T . Likely pathogenic 2 4 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-10-12 11.7 0.5 Pathogenic/Likely pathogenic 1 -230926 Simple 146646971 C . Pathogenic 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-06 12.0 0.5 Pathogenic/Likely pathogenic 1 -230928 Simple 876658847 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.0 Uncertain significance 0 -230930 Simple 80357313 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -230932 Simple 876658850 - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-16 10.8 1.5 Pathogenic/Likely pathogenic 1 -230934 Simple 190142346 T . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-06-10 -0.6 0.5 Uncertain significance 0 -230936 Simple 750926542 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-20 -0.6 1.0 Uncertain significance 0 -230937 Simple 876658853 A . Likely pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-04 8.4 1.3333333333333333 Pathogenic/Likely pathogenic 1 -230939 Simple 372334891 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-16 -5.7 1.5 Likely benign 0 -230946 Simple 779472379 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-11-03 -0.5700000000000001 1.5 Uncertain significance 0 -230948 Simple 546716073 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -0.6 0.5 Uncertain significance 0 -230952 Simple 878853265 A . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.25 Benign/Likely benign 1 -230959 Simple 876658868 T . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-09 12.0 0.0 Pathogenic/Likely pathogenic 1 -230962 Simple 545974734 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-06 -0.87 1.3333333333333333 Uncertain significance 0 -230963 Simple 876658869 C . Likely benign 2 2 Lynch syndrome II;Hereditary cancer-predisposing syndrome 2016-10-26 -5.7 1.5 Likely benign 0 -230966 Simple 876658872 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-26 -0.5700000000000001 1.0 Uncertain significance 0 -230967 Simple 876658873 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-04 -0.78 2.3333333333333335 Uncertain significance 0 -230971 Simple 762307622 T . Pathogenic/Likely pathogenic 2 6 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-04-21 32.7 1.0 Pathogenic 1 -230973 Simple 759071832 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-28 -0.6 1.0 Uncertain significance 0 -230975 Simple 876658879 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -230978 Simple 876658881 AA . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-26 11.4 1.5 Pathogenic/Likely pathogenic 1 -230981 Simple 183510397 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-31 -5.7 1.0 Likely benign 0 -230982 Simple 876658884 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -230984 Simple 542848931 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -0.8999999999999999 0.0 Uncertain significance 0 -230985 Simple 876658885 A . Likely benign 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -14.4 1.0 Benign/Likely benign 1 -230986 Simple 876658886 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-08-27 -0.54 2.0 Uncertain significance 0 -230987 Simple 876658887 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-28 -5.7 1.5 Likely benign 0 -230989 Simple 56317927 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-15 -0.5700000000000001 1.5 Uncertain significance 0 -230990 Simple 567344545 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -1.17 1.0 Uncertain significance 0 -230991 Simple 876658888 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -230992 Simple 149759218 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -0.78 2.0 Uncertain significance 0 -230993 Simple 761180883 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-09-20 -0.5700000000000001 1.5 Uncertain significance 0 -230994 Simple 876658889 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -230997 Simple 753270291 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-29 -5.7 1.5 Likely benign 0 -231007 Simple 876658897 C . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-09-06 -5.7 1.5 Likely benign 0 -231008 Simple 764735889 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -0.87 0.6666666666666666 Uncertain significance 0 -231011 Simple 876658899 AA . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-23 11.4 1.5 Pathogenic/Likely pathogenic 1 -231013 Simple 876658901 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-10 -0.54 2.0 Uncertain significance 0 -231016 Simple 773196250 C . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-01-15 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -231020 Simple 876658906 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -231023 Simple 876658909 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-17 -8.4 1.3333333333333333 Benign/Likely benign 1 -231024 Simple 147594815 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -231027 Simple 876658911 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231028 Simple 876658912 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231029 Simple 773198648 G . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -1.2 0.25 Uncertain significance 0 -231030 Simple 876658913 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-09 -0.5700000000000001 1.5 Uncertain significance 0 -231035 Simple 765957571 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-09 -0.5700000000000001 1.0 Uncertain significance 0 -231036 Simple 766694099 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-24 -5.7 1.5 Likely benign 0 -231038 Simple 753651115 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231040 Simple 773378630 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-23 -0.5700000000000001 1.0 Uncertain significance 0 -231041 Simple 876658920 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-08 -0.5700000000000001 1.0 Uncertain significance 0 -231047 Simple 587782833 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-29 -0.5700000000000001 1.5 Uncertain significance 0 -231048 Simple 876658924 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-20 -5.4 2.0 Likely benign 0 -231053 Simple 876658863 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-13 -0.5700000000000001 1.5 Uncertain significance 0 -231054 Simple 876658928 - . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 11.4 1.0 Pathogenic/Likely pathogenic 1 -231060 Simple 28934576 G . Pathogenic/Likely pathogenic 2 2 Liver cancer;Chronic lymphocytic leukemia;Medulloblastoma;Malignant melanoma of skin;Multiple myeloma;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Adenocarcinoma of lung;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Acute myeloid leukemia;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Adrenocortical carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-07-18 8.7 1.0 Pathogenic/Likely pathogenic 0 -231061 Simple 876658934 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -1.17 0.75 Uncertain significance 0 -231063 Simple 755670651 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-10 -0.5700000000000001 1.5 Uncertain significance 0 -231064 Simple 761681864 G . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -8.7 1.0 Benign/Likely benign 1 -231066 Simple 876658936 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-09-19 -0.6 0.0 Uncertain significance 0 -231074 Simple 876658941 T . Pathogenic/Likely pathogenic 2 4 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-11-23 18.0 1.0 Pathogenic 1 -231075 Simple 876658942 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-09 -0.87 1.3333333333333333 Uncertain significance 0 -231079 Simple 459552 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-07-28 -0.6 1.0 Uncertain significance 0 -231083 Simple 876658947 TT . Pathogenic 2 3 Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-11-11 15.6 2.3333333333333335 Pathogenic 0 -231085 Simple 747664806 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -231089 Simple 876658952 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-01-17 -5.4 2.0 Likely benign 0 -231096 Simple 786202521 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-09 -5.7 1.5 Likely benign 0 -231101 Simple 148038877 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231102 Simple 876658960 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-25 -0.5700000000000001 1.0 Uncertain significance 0 -231103 Simple 764150912 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-07 -0.6 1.0 Uncertain significance 0 -231106 Simple 876658963 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-23 -0.5700000000000001 1.5 Uncertain significance 0 -231108 Simple 876658964 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -231114 Simple 28997572 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-07 -0.87 0.6666666666666666 Uncertain significance 0 -231116 Simple 876658969 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-31 -8.7 0.6666666666666666 Benign/Likely benign 1 -231117 Simple 587781710 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -0.6 0.5 Uncertain significance 0 -231118 Simple 876658970 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -231121 Simple 17878418 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-19 -5.7 1.0 Likely benign 0 -231122 Simple 768654795 G . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-27 -8.7 1.0 Benign/Likely benign 0 -231124 Simple 755394319 T . Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 4;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-03 -11.7 1.25 Benign/Likely benign 1 -231126 Simple 746709782 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-27 -0.6 0.5 Uncertain significance 0 -231127 Simple 780240314 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -8.7 1.0 Benign/Likely benign 1 -231130 Simple 763841886 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -231131 Simple 876658975 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-10 -0.5700000000000001 1.0 Uncertain significance 0 -231134 Simple 587781710 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-21 -0.5700000000000001 1.5 Uncertain significance 0 -231137 Simple 753136372 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-20 -0.5700000000000001 1.0 Uncertain significance 0 -231139 Simple 377241633 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-15 -0.87 0.6666666666666666 Uncertain significance 0 -231140 Simple 745863765 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-18 -0.5700000000000001 1.5 Uncertain significance 0 -231143 Simple 747148023 - . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-01 24.0 0.6 Pathogenic 1 -231147 Simple 876658983 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-15 11.4 1.5 Pathogenic/Likely pathogenic 1 -231148 Simple 775973095 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-09 -0.87 1.0 Uncertain significance 0 -231153 Simple 749660228 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231155 Simple 876658989 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-14 -0.8999999999999999 1.0 Uncertain significance 0 -231157 Simple 778907270 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-20 -0.5700000000000001 1.5 Uncertain significance 0 -231158 Simple 769575297 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-12 -5.7 1.0 Likely benign 0 -231161 Simple 372038369 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-03-08 -0.6 0.5 Uncertain significance 0 -231164 Simple 876658994 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -11.4 1.0 Benign/Likely benign 1 -231169 Simple 876658997 G . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-01-23 8.100000000000001 2.0 Likely pathogenic 1 -231170 Simple 876658998 T . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -5.7 1.0 Likely benign 0 -231171 Simple 762582522 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-04 -8.7 1.3333333333333333 Benign/Likely benign 1 -231172 Simple 151293900 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-27 -5.7 1.0 Likely benign 0 -231173 Simple 766667009 T . Pathogenic/Likely pathogenic 2 2 Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-06-19 8.4 1.0 Pathogenic/Likely pathogenic 0 -231178 Simple 876659003 - . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-09 8.4 1.5 Pathogenic/Likely pathogenic 0 -231180 Simple 876659005 AA . Pathogenic/Likely pathogenic 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2016-10-26 15.0 1.0 Pathogenic 1 -231181 Simple 876659006 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.5 Uncertain significance 0 -231183 Simple 377632619 T . Uncertain significance 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Hereditary cancer-predisposing syndrome 2016-06-14 -1.17 1.25 Uncertain significance 0 -231184 Simple 45447991 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.0 Uncertain significance 0 -231187 Simple 876659009 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-06 -5.4 2.0 Likely benign 0 -231192 Simple 876659013 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-03 -0.5700000000000001 1.0 Uncertain significance 0 -231198 Simple 876659018 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2015-12-08 -0.54 2.0 Uncertain significance 0 -231200 Simple 368980595 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-07-31 12.0 0.0 Pathogenic/Likely pathogenic 1 -231201 Simple 876659020 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-10 -5.7 1.5 Likely benign 0 -231204 Simple 55934812 T . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-07 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -231205 Simple 876659023 A . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-09-29 -0.6 0.0 Uncertain significance 0 -231206 Simple 368666328 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-04-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -231208 Simple 876659024 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231211 Simple 63750882 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -0.87 1.0 Uncertain significance 0 -231212 Simple 876659027 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -0.87 1.0 Uncertain significance 0 -231214 Simple 587778720 G . Pathogenic/Likely pathogenic 2 2 Liver cancer;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Kidney cancer;Squamous cell carcinoma of lung;not specified;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Adenoid cystic carcinoma;Nasopharyngeal Neoplasms;Adrenocortical carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-01-20 9.0 1.0 Pathogenic/Likely pathogenic 0 -231216 Simple 876659029 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.25 Benign/Likely benign 1 -231217 Simple 876659030 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-05 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -231223 Simple 754478087 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231227 Simple 876659036 A . Pathogenic 2 1 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-05-31 . 1.0 . 0 -231230 Simple 749859221 T . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-12-26 -5.7 1.5 Likely benign 0 -231236 Simple 786202628 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-01 -0.6 0.0 Uncertain significance 0 -231240 Simple 777141329 C . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.4 1.0 Benign/Likely benign 1 -231243 Simple 876659046 AA . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-27 -0.6 0.0 Uncertain significance 0 -231244 Simple 876659047 AT . Pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-07 18.0 1.0 Pathogenic 0 -231245 Simple 876659048 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -231246 Simple 752074266 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.0 Uncertain significance 0 -231247 Simple 876659049 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231249 Simple 876659051 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231258 Simple 876659056 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-12 -0.87 1.0 Uncertain significance 0 -231261 Simple 370679685 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -0.87 1.0 Uncertain significance 0 -231265 Simple 876659060 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-08-18 -0.5700000000000001 1.5 Uncertain significance 0 -231267 Simple 765807869 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-04 -0.5700000000000001 1.0 Uncertain significance 0 -231270 Simple 751665426 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-01-31 -1.17 1.25 Uncertain significance 0 -231274 Simple 758175953 A . Pathogenic 2 5 Multiple fibrofolliculomas;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-16 30.0 0.8 Pathogenic 0 -231275 Simple 373444411 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-25 -0.6 1.0 Uncertain significance 0 -231277 Simple 750663117 A . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-03 23.4 0.6 Pathogenic 1 -231282 Simple 876659070 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-04-21 -0.5700000000000001 1.5 Uncertain significance 0 -231284 Simple 140425622 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -8.7 1.0 Benign/Likely benign 1 -231285 Simple 876659071 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -231286 Simple 541317651 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-24 -5.4 2.0 Likely benign 0 -231287 Simple 587780168 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-11 -0.87 1.0 Uncertain significance 0 -231288 Simple 376335675 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-04 -5.7 1.5 Likely benign 0 -231290 Simple 774352844 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -231296 Simple 876659077 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-27 -0.5700000000000001 1.5 Uncertain significance 0 -231297 Simple 375130261 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-19 -0.5700000000000001 1.0 Uncertain significance 0 -231298 Simple 746283923 C . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.0 Uncertain significance 0 -231299 Simple 876659078 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-10 -0.87 1.3333333333333333 Uncertain significance 0 -231300 Simple 139372231 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-13 -0.6 1.0 Uncertain significance 0 -231304 Simple 876659079 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-10-06 -0.5700000000000001 1.5 Uncertain significance 0 -231306 Simple 140097800 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -1.2 0.25 Uncertain significance 0 -231307 Simple 369092711 C . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-26 -5.7 1.0 Likely benign 0 -231308 Simple 780324598 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.97 1.0 Benign/Likely benign 1 -231311 Simple 876659081 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-24 -8.7 1.3333333333333333 Benign/Likely benign 1 -231312 Simple 756770951 G . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-06-10 -8.7 1.3333333333333333 Benign/Likely benign 1 -231315 Simple 876659084 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -0.5700000000000001 1.0 Uncertain significance 0 -231320 Simple 876659089 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -231324 Simple 876659092 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231325 Simple 398122616 C . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -13.8 1.4 Benign/Likely benign 1 -231326 Simple 876659093 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-09 -0.6 1.0 Uncertain significance 0 -231327 Simple 876659094 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-28 -8.7 1.3333333333333333 Benign/Likely benign 1 -231332 Simple 876659099 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-03-14 -0.5700000000000001 1.5 Uncertain significance 0 -231334 Simple 765890622 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231335 Simple 769814905 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-29 -0.5700000000000001 1.5 Uncertain significance 0 -231336 Simple 771519405 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -231337 Simple 876659100 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -231340 Simple 748165218 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-06 -1.2 0.75 Uncertain significance 0 -231343 Simple 863224307 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231344 Simple 876659104 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231348 Simple 779275341 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-08 -0.5700000000000001 1.5 Uncertain significance 0 -231350 Simple 777848844 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-22 -5.7 1.0 Likely benign 0 -231351 Simple 876659109 G . Uncertain significance 2 2 Familial multiple polyposis syndrome;Hereditary cancer-predisposing syndrome 2015-10-19 -0.54 2.0 Uncertain significance 0 -231352 Simple 876659110 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -231353 Simple 863224335 T . Likely benign 2 3 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome 2017-08-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -231354 Simple 754033733 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -231355 Simple 748010172 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-30 -5.7 1.5 Likely benign 0 -231358 Simple 775145190 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-07 -0.5700000000000001 1.5 Uncertain significance 0 -231360 Simple 876659113 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -0.6 0.5 Uncertain significance 0 -231362 Simple 34170727 A . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-09-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231363 Simple 778482902 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -231366 Simple 876659116 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-05-26 8.4 1.5 Pathogenic/Likely pathogenic 0 -231373 Simple 375845724 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-06-21 -0.5700000000000001 1.5 Uncertain significance 0 -231377 Simple 876659123 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -231378 Simple 373203204 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-11 -1.1400000000000001 1.5 Uncertain significance 0 -231380 Simple 876659125 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231383 Simple 587778171 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.5 Uncertain significance 0 -231384 Simple 201841770 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-24 -5.7 1.0 Likely benign 0 -231386 Simple 587779248 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-06-05 -8.7 1.3333333333333333 Benign/Likely benign 1 -231389 Simple 876659129 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-28 -0.5700000000000001 1.5 Uncertain significance 0 -231393 Simple 750993436 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-19 -5.7 1.5 Likely benign 0 -231394 Simple 760094988 T . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-05-22 18.0 0.6666666666666666 Pathogenic 0 -231395 Simple 876659131 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-12-09 8.100000000000001 2.0 Likely pathogenic 1 -231406 Simple 876659139 - . Pathogenic 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 34.8 1.0 Pathogenic 0 -231408 Simple 55849405 C . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -231413 Simple 876659144 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-03-16 -0.6 0.5 Uncertain significance 0 -231417 Simple 199474754 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -231421 Simple 876659148 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-01 -0.6 0.5 Uncertain significance 0 -231422 Simple 80357396 A . Uncertain significance 2 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -1.47 0.8 Uncertain significance 0 -231423 Simple 370066853 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231426 Simple 876659149 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-06 -8.7 1.3333333333333333 Benign/Likely benign 1 -231428 Simple 876659151 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231434 Simple 876659156 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-15 -0.5700000000000001 1.5 Uncertain significance 0 -231439 Simple 876659161 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-12 -0.5700000000000001 1.5 Uncertain significance 0 -231440 Simple 752666485 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 -8.7 0.6666666666666666 Benign/Likely benign 1 -231446 Simple 876659166 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231447 Simple 730881406 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231448 Simple 767377764 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-29 -11.4 1.0 Benign/Likely benign 1 -231450 Simple 759292615 A . Likely pathogenic 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-05-31 6.0 0.5 Likely pathogenic 0 -231458 Simple 876659171 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-29 -5.7 1.0 Likely benign 0 -231461 Simple 876659173 G . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-03 -11.7 1.25 Benign/Likely benign 1 -231464 Simple 756899044 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-08-02 -0.5700000000000001 1.5 Uncertain significance 0 -231468 Simple 876659178 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -231469 Simple 876659179 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231470 Simple 587781899 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-11 -0.5700000000000001 1.5 Uncertain significance 0 -231474 Simple 876659181 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-04 -5.7 1.0 Likely benign 0 -231478 Simple 876659184 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -231479 Simple 876659185 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231480 Simple 775455085 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-04-29 -5.7 1.0 Likely benign 0 -231482 Simple 876659187 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-26 -0.87 1.0 Uncertain significance 0 -231483 Simple 769154907 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-24 -0.5700000000000001 1.5 Uncertain significance 0 -231484 Simple 527563505 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-20 -5.7 1.0 Likely benign 0 -231485 Simple 755394212 T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -231486 Simple 876659188 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-11-01 -0.87 1.3333333333333333 Uncertain significance 0 -231489 Simple 369642243 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-31 -11.4 1.5 Benign/Likely benign 1 -231491 Simple 768553551 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-09-07 -0.8999999999999999 0.0 Uncertain significance 0 -231497 Simple 876659192 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-07 -0.5700000000000001 1.5 Uncertain significance 0 -231498 Simple 750350372 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-15 -0.5700000000000001 1.0 Uncertain significance 0 -231500 Simple 201909756 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -0.87 0.6666666666666666 Uncertain significance 0 -231508 Simple 876659198 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231512 Simple 876659201 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -231513 Simple 74953290 G . Pathogenic/Likely pathogenic 2 3 not specified;not provided;Hereditary cancer-predisposing syndrome 2017-03-10 15.0 0.3333333333333333 Pathogenic 1 -231515 Simple 183296277 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-16 -5.7 1.0 Likely benign 0 -231517 Simple 771034958 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-06-21 -0.6 1.0 Uncertain significance 0 -231519 Simple 876659205 A . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-28 -8.7 1.0 Benign/Likely benign 1 -231520 Simple 775850434 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -8.7 1.0 Benign/Likely benign 1 -231521 Simple 876659206 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.5 Benign/Likely benign 1 -231524 Simple 763161651 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -1.2 0.5 Uncertain significance 0 -231525 Simple 876659207 A . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -8.7 1.0 Benign/Likely benign 1 -231527 Simple 773999877 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -231528 Simple 876659208 - . Pathogenic 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-16 12.0 0.0 Pathogenic/Likely pathogenic 1 -231529 Simple 730881465 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -231530 Simple 876659209 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-09 -0.5700000000000001 1.5 Uncertain significance 0 -231531 Simple 876659210 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-31 -5.7 1.5 Likely benign 0 -231532 Simple 876659211 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.5 Pathogenic 0 -231533 Simple 779226644 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -231535 Simple 747855862 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-03-30 8.4 1.5 Pathogenic/Likely pathogenic 0 -231541 Simple 776622357 T . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-09-19 -8.4 1.6666666666666667 Benign/Likely benign 1 -231542 Simple 371526966 C . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-02 -8.7 1.3333333333333333 Benign/Likely benign 1 -231547 Simple 876659218 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-11-08 -0.6 1.0 Uncertain significance 0 -231548 Simple 762188153 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-13 -0.5700000000000001 1.5 Uncertain significance 0 -231549 Simple 375674083 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -231555 Simple 876659222 - . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -1.1400000000000001 1.0 Uncertain significance 0 -231561 Simple 752544046 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-06-17 -0.5700000000000001 1.5 Uncertain significance 0 -231563 Simple 748674194 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.87 0.6666666666666666 Uncertain significance 0 -231564 Simple 114885938 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-12 -0.6 0.5 Uncertain significance 0 -231565 Simple 63751012 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-07 -0.6 0.0 Uncertain significance 0 -231570 Simple 876659232 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-08-24 -0.6 1.0 Uncertain significance 0 -231579 Simple 376189676 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-02 -8.7 0.6666666666666666 Benign/Likely benign 1 -231580 Simple 876659240 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -231584 Simple 876659243 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -231585 Simple 144322424 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-12 -0.6 0.5 Uncertain significance 0 -231591 Simple 780000105 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -231593 Simple 876659248 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.6 0.0 Uncertain significance 0 -231594 Simple 876659249 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-01 -11.7 0.75 Benign/Likely benign 1 -231597 Simple 145333518 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-09-11 -8.4 1.6666666666666667 Benign/Likely benign 1 -231598 Simple 876659252 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-10 -0.5700000000000001 1.5 Uncertain significance 0 -231604 Simple 876659258 A . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.25 Pathogenic 0 -231605 Simple 876659259 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231607 Simple 56072130 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-10 -5.7 1.5 Likely benign 0 -231610 Simple 763901597 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -231613 Simple 876659264 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -0.87 1.3333333333333333 Uncertain significance 0 -231614 Simple 201544462 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.5 Uncertain significance 0 -231619 Simple 575354684 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -231620 Simple 876659266 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-28 -0.5700000000000001 1.5 Uncertain significance 0 -231621 Simple 786203144 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-09-30 -0.6 0.5 Uncertain significance 0 -231623 Simple 767313783 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-17 -11.7 1.0 Benign/Likely benign 1 -231629 Simple 876659270 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-10-19 -0.8999999999999999 1.0 Uncertain significance 0 -231630 Simple 876659271 T . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -18.0 0.6666666666666666 Benign/Likely benign 1 -231631 Simple 876659272 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -0.5700000000000001 1.0 Uncertain significance 0 -231633 Simple 763645981 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-13 -0.8999999999999999 0.0 Uncertain significance 0 -231635 Simple 768671057 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.2 0.5 Uncertain significance 0 -231636 Simple 876659275 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-17 -0.5700000000000001 1.5 Uncertain significance 0 -231639 Simple 753778809 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -231641 Simple 575285986 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-21 -5.7 1.0 Likely benign 0 -231643 Simple 397507275 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-22 11.4 1.5 Pathogenic/Likely pathogenic 1 -231644 Simple 777859444 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-28 -5.7 1.5 Likely benign 0 -231649 Simple 121913290 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-04-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -231653 Simple 745727200 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-20 -0.5700000000000001 1.0 Uncertain significance 0 -231655 Simple 779789452 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-01-18 -0.54 2.0 Uncertain significance 0 -231662 Simple 779237423 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -231665 Simple 765262682 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -5.7 1.0 Likely benign 0 -231668 Simple 770753803 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -8.7 1.0 Benign/Likely benign 1 -231683 Simple 876659297 C . Likely benign 2 2 Gastrointestinal stromal tumor;Paragangliomas 3;Hereditary cancer-predisposing syndrome 2017-08-04 -5.7 1.0 Likely benign 0 -231684 Simple 762951311 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-10-19 -0.6 1.0 Uncertain significance 0 -231690 Simple 587781447 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -0.6 0.5 Uncertain significance 0 -231693 Simple 367614726 T . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -11.7 0.75 Benign/Likely benign 1 -231698 Simple 587781771 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -231703 Simple 876659309 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -0.87 1.0 Uncertain significance 0 -231709 Simple 563137460 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -0.87 1.3333333333333333 Uncertain significance 0 -231710 Simple 876659312 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -0.8999999999999999 0.0 Uncertain significance 0 -231716 Simple 759608783 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-26 -0.5700000000000001 1.0 Uncertain significance 0 -231718 Simple 876659319 A . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-26 11.4 1.5 Pathogenic/Likely pathogenic 1 -231723 Simple 876659321 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.0 Uncertain significance 0 -231724 Simple 777421358 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.25 Pathogenic 0 -231726 Simple 186577215 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-02 -8.7 0.6666666666666666 Benign/Likely benign 1 -231727 Simple 876659323 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-18 -0.87 1.0 Uncertain significance 0 -231729 Simple 876659324 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-16 -0.5700000000000001 1.5 Uncertain significance 0 -231732 Simple 876659327 CC . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2016-05-24 11.4 1.5 Pathogenic/Likely pathogenic 0 -231733 Simple 758691069 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -231736 Simple 776958611 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-15 -5.7 1.5 Likely benign 0 -231739 Simple 761986980 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-04-10 -5.7 1.5 Likely benign 0 -231742 Simple 752499497 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -1.2 0.25 Uncertain significance 0 -231744 Simple 763740623 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-07 -0.5700000000000001 1.5 Uncertain significance 0 -231745 Simple 876659333 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-10-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -231747 Simple 876659335 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-06 -5.7 1.5 Likely benign 0 -231751 Simple 876659338 T . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-11 -5.7 1.5 Likely benign 0 -231763 Simple 876659346 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-13 -0.5700000000000001 1.5 Uncertain significance 0 -231769 Simple 876659350 - . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-03 5.7 1.0 Likely pathogenic 0 -231770 Simple 768172525 T . Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 8.7 0.6666666666666666 Pathogenic/Likely pathogenic 1 -231772 Simple 876659351 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -231776 Simple 771607042 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-06 -0.6 1.0 Uncertain significance 0 -231781 Simple 759014440 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231783 Simple 876659360 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-02 -5.7 1.0 Likely benign 0 -231786 Simple 45517368 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-05-13 -5.7 1.5 Likely benign 0 -231789 Simple 876659365 G . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 5.7 1.0 Likely pathogenic 0 -231793 Simple 876659369 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-05-14 -0.51 2.5 Uncertain significance 0 -231806 Simple 876659377 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231808 Simple 876659379 - . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2016-12-16 -0.8999999999999999 1.0 Uncertain significance 0 -231811 Simple 756420858 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-30 -11.7 0.75 Benign/Likely benign 1 -231812 Simple 876659382 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-11 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -231813 Simple 876659383 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -231814 Simple 747721259 T . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-07 -8.7 1.0 Benign/Likely benign 1 -231818 Simple 752622244 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-28 -0.87 1.0 Uncertain significance 0 -231820 Simple 876659386 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-12-05 -0.5700000000000001 1.5 Uncertain significance 0 -231829 Simple 876659391 G . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.5700000000000001 1.0 Uncertain significance 0 -231832 Simple 764106639 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-28 -0.5700000000000001 1.0 Uncertain significance 0 -231833 Simple 761807609 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-05 -5.7 1.5 Likely benign 0 -231834 Simple 876659392 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -1.2 0.5 Uncertain significance 0 -231837 Simple 765271127 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -231839 Simple 876659394 G . Likely pathogenic 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-11-03 5.7 1.5 Likely pathogenic 0 -231843 Simple 759520465 C . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-25 14.4 0.6666666666666666 Pathogenic/Likely pathogenic 0 -231846 Simple 876659398 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231850 Simple 876659401 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-28 -5.7 1.5 Likely benign 0 -231852 Simple 876659403 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -0.87 1.0 Uncertain significance 0 -231858 Simple 55704151 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231859 Simple 876659407 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-24 -0.8999999999999999 1.0 Uncertain significance 0 -231861 Simple 750303863 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-09 -0.5700000000000001 1.0 Uncertain significance 0 -231865 Simple 876659412 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-10 -0.5700000000000001 1.5 Uncertain significance 0 -231870 Simple 876659416 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-13 -5.7 1.5 Likely benign 0 -231873 Simple 587780059 C . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-29 11.4 1.5 Pathogenic/Likely pathogenic 1 -231875 Simple 749048388 G . Likely benign 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2016-07-16 -8.7 1.3333333333333333 Benign/Likely benign 1 -231881 Simple 777903002 C . Uncertain significance 2 3 Hereditary nonpolyposis colorectal cancer type 4;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231886 Simple 765175665 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -1.17 0.75 Uncertain significance 0 -231888 Simple 200264387 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.0 Uncertain significance 0 -231890 Simple 876659428 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-02-04 -0.54 2.0 Uncertain significance 0 -231895 Simple 771683103 G . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-08-14 -5.7 1.5 Likely benign 0 -231899 Simple 876659433 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-27 -0.6 1.0 Uncertain significance 0 -231901 Simple 876659435 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.5 Pathogenic 0 -231902 Simple 768573698 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-30 -5.7 1.0 Likely benign 0 -231903 Simple 587781413 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -231904 Simple 761529282 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-19 -0.87 0.6666666666666666 Uncertain significance 0 -231907 Simple 876659438 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-06-30 -0.5700000000000001 1.5 Uncertain significance 0 -231908 Simple 150515238 T . Likely benign 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-29 -14.7 1.2 Benign/Likely benign 1 -231909 Simple 876659439 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-05-27 -0.54 2.0 Uncertain significance 0 -231912 Simple 770784286 - . Uncertain significance 2 2 Cutaneous malignant melanoma 3;Hereditary cancer-predisposing syndrome 2016-08-01 -0.5700000000000001 1.5 Uncertain significance 0 -231913 Simple 876659441 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -231914 Simple 373449212 T . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -231917 Simple 371453363 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231918 Simple 876659444 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-25 -0.5700000000000001 1.5 Uncertain significance 0 -231924 Simple 137854567 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -231929 Simple 376886779 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-05 -5.7 1.5 Likely benign 0 -231930 Simple 876659448 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -231933 Simple 777849257 T . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-11-01 11.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -231934 Simple 763222019 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-17 -0.5700000000000001 1.5 Uncertain significance 0 -231937 Simple 876659450 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-08 11.4 1.5 Pathogenic/Likely pathogenic 1 -231938 Simple 755173206 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-06-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231939 Simple 876659451 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-07-09 -0.5700000000000001 1.5 Uncertain significance 0 -231940 Simple 755553895 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -0.5700000000000001 1.0 Uncertain significance 0 -231942 Simple 876658518 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -231943 Simple 540635787 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-12-21 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -231948 Simple 876659455 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -231949 Simple 876659456 TT . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-27 11.4 1.5 Pathogenic/Likely pathogenic 1 -231950 Simple 377489352 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-04-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231956 Simple 876659462 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-26 -5.7 1.5 Likely benign 0 -231957 Simple 587779823 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -0.5700000000000001 1.0 Uncertain significance 0 -231959 Simple 150780318 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-22 -5.7 1.5 Likely benign 0 -231960 Simple 777881096 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231962 Simple 876659464 C . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-07-19 -0.5700000000000001 1.5 Uncertain significance 0 -231963 Simple 777979257 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-03 -5.7 1.5 Likely benign 0 -231966 Simple 757043253 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-19 -0.6 1.0 Uncertain significance 0 -231974 Simple 570238270 T . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-10 -8.4 1.6666666666666667 Benign/Likely benign 1 -231979 Simple 145097078 A . Benign/Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -14.100000000000001 1.25 Benign/Likely benign 0 -231980 Simple 113545983 G . Benign/Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -14.100000000000001 1.25 Benign/Likely benign 0 -231981 Simple 876659473 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -231987 Simple 754555043 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -231988 Simple 770558820 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-04 -0.5700000000000001 1.0 Uncertain significance 0 -231993 Simple 876659480 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-29 12.0 0.5 Pathogenic/Likely pathogenic 1 -231994 Simple 876659481 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-01 -5.4 2.0 Likely benign 0 -231995 Simple 775903570 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -1.14 1.25 Uncertain significance 0 -231996 Simple 876659482 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.0 Pathogenic 0 -232001 Simple 876659486 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-28 -0.54 2.0 Uncertain significance 0 -232004 Simple 876659488 G . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-09-28 -0.5700000000000001 1.5 Uncertain significance 0 -232006 Simple 750869272 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-28 -0.5700000000000001 1.0 Uncertain significance 0 -232008 Simple 763395924 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.2 0.25 Uncertain significance 0 -232010 Simple 876659492 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -5.7 1.0 Likely benign 0 -232011 Simple 753967199 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-31 -5.7 1.5 Likely benign 0 -232013 Simple 876659493 G . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-01-08 -5.4 2.0 Likely benign 0 -232024 Simple 562766087 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-07 -5.7 1.0 Likely benign 0 -232027 Simple 876659503 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.87 1.0 Uncertain significance 0 -232029 Simple 876659505 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-04-27 -0.5700000000000001 1.5 Uncertain significance 0 -232033 Simple 876659508 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-12 -6.0 1.0 Likely benign 0 -232035 Simple 781061998 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-24 -5.7 1.0 Likely benign 0 -232040 Simple 758483894 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -0.87 0.6666666666666666 Uncertain significance 0 -232045 Simple 876659517 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-08-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -232047 Simple 80356957 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -232048 Simple 876659519 C . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-11 9.0 1.0 Pathogenic/Likely pathogenic 0 -232050 Simple 876659521 C . Pathogenic/Likely pathogenic 2 4 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-07-03 13.8 1.0 Pathogenic/Likely pathogenic 0 -232051 Simple 876659522 C . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -232054 Simple 876659525 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.17 0.5 Uncertain significance 0 -232056 Simple 61756146 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.17 0.5 Uncertain significance 0 -232059 Simple 876659529 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232060 Simple 759267807 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-12 -8.7 1.0 Benign/Likely benign 1 -232069 Simple 147739458 A . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -11.7 0.75 Benign/Likely benign 1 -232071 Simple 767656411 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-09 -0.6 0.5 Uncertain significance 0 -232075 Simple 398122528 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232077 Simple 876659538 TT . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-01-17 -0.78 2.3333333333333335 Uncertain significance 0 -232079 Simple 876659540 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2015-12-22 -5.4 2.0 Likely benign 0 -232080 Simple 749298208 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-28 -8.4 1.3333333333333333 Benign/Likely benign 1 -232084 Simple 876659544 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-05-09 -0.6 0.5 Uncertain significance 0 -232089 Simple 876659547 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-31 -1.17 1.25 Uncertain significance 0 -232091 Simple 876659549 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-30 -1.2 0.25 Uncertain significance 0 -232092 Simple 876659550 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -232095 Simple 755898663 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-15 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -232096 Simple 876659552 C . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -232097 Simple 772285343 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -0.87 1.0 Uncertain significance 0 -232098 Simple 756859993 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -1.2 0.25 Uncertain significance 0 -232099 Simple 876659553 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -232102 Simple 876659556 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.5700000000000001 1.0 Uncertain significance 0 -232104 Simple 876659558 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-09 -0.5700000000000001 1.0 Uncertain significance 0 -232107 Simple 185356145 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-20 -0.5700000000000001 1.5 Uncertain significance 0 -232111 Simple 374395284 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.17 0.5 Uncertain significance 0 -232113 Simple 544123518 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-17 -0.5700000000000001 1.0 Uncertain significance 0 -232114 Simple 876659563 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-09 -5.7 1.5 Likely benign 0 -232115 Simple 756503509 G . Likely benign 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -8.7 1.3333333333333333 Benign/Likely benign 1 -232125 Simple 876659571 - . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 27.0 0.4 Pathogenic 1 -232126 Simple 751308094 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232127 Simple 876659572 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -232133 Simple 876659575 - . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.17 0.75 Uncertain significance 0 -232139 Simple 528789830 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -0.6 0.5 Uncertain significance 0 -232140 Simple 876659580 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232147 Simple 766308212 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-16 -0.6 1.0 Uncertain significance 0 -232150 Simple 876659587 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.5 Uncertain significance 0 -232154 Simple 876659588 G . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2015-12-23 -8.100000000000001 2.0 Likely benign 0 -232156 Simple . . . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-09 -0.6 0.5 Uncertain significance 0 -232157 Simple 183928474 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2016-10-02 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -232158 Simple 865838543 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-03 -8.7 1.3333333333333333 Benign/Likely benign 1 -232159 Simple 764950557 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-29 -0.5700000000000001 1.0 Uncertain significance 0 -232162 Simple 113005278 G . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -232167 Simple 577768294 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-15 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -232173 Simple 768810807 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-03-09 -1.2 0.75 Uncertain significance 0 -232174 Simple 876659598 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-28 -5.7 1.0 Likely benign 0 -232176 Simple 80356881 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -232178 Simple 377475866 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-13 -0.5700000000000001 1.5 Uncertain significance 0 -232179 Simple 876659601 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-24 -0.5700000000000001 1.5 Uncertain significance 0 -232182 Simple 876659604 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-06 -5.7 1.5 Likely benign 0 -232184 Simple 876659605 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -232185 Simple 771982631 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-20 -8.7 1.0 Benign/Likely benign 1 -232186 Simple 876659606 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -232187 Simple 539553128 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-02 -5.7 1.5 Likely benign 0 -232190 Simple 876659608 T . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-11 16.8 1.3333333333333333 Pathogenic 0 -232191 Simple 786203761 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -1.14 1.0 Uncertain significance 0 -232192 Simple 748115066 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-02 -0.87 1.0 Uncertain significance 0 -232193 Simple 876659609 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.75 Benign/Likely benign 1 -232196 Simple 749757928 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -5.7 1.0 Likely benign 0 -232201 Simple 876659612 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-02-12 -0.54 2.0 Uncertain significance 0 -232206 Simple 876659617 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -232208 Simple 876659618 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -232209 Simple 876659619 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -232219 Simple 876659626 G . Likely benign 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-02-14 -5.7 1.5 Likely benign 0 -232220 Simple 876659627 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-24 -0.54 2.0 Uncertain significance 0 -232224 Simple 876659631 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-03-23 -5.7 1.0 Likely benign 0 -232231 Simple 752428475 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-19 -11.4 1.0 Benign/Likely benign 1 -232232 Simple 201135424 G . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -1.2 0.5 Uncertain significance 0 -232235 Simple 876659639 - . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-21 17.1 1.25 Pathogenic 1 -232236 Simple 760707493 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.87 1.0 Uncertain significance 0 -232237 Simple 876659640 T . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -11.7 1.0 Benign/Likely benign 1 -232240 Simple 876659642 T . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-12 -8.7 1.3333333333333333 Benign/Likely benign 1 -232242 Simple 876659644 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -232243 Simple 762819719 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -232244 Simple 876659645 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -232246 Simple 876659646 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-20 -5.7 1.0 Likely benign 0 -232247 Simple 876659647 - . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-08-02 11.4 1.5 Pathogenic/Likely pathogenic 1 -232248 Simple 746235533 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-19 12.0 0.0 Pathogenic/Likely pathogenic 1 -232249 Simple 764406913 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-02-06 -0.8999999999999999 1.0 Uncertain significance 0 -232251 Simple 779411998 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-12 -0.8999999999999999 1.0 Uncertain significance 0 -232255 Simple 761673463 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -232256 Simple 760687282 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-07 -8.7 1.3333333333333333 Benign/Likely benign 1 -232264 Simple 750551012 G . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-08-15 -0.6 0.0 Uncertain significance 0 -232267 Simple 876659661 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-16 -0.5700000000000001 1.0 Uncertain significance 0 -232269 Simple 756453090 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-02 -5.7 1.5 Likely benign 0 -232270 Simple 780834054 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.87 1.0 Uncertain significance 0 -232272 Simple 370974808 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-22 -0.6 0.5 Uncertain significance 0 -232278 Simple 745782331 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-28 -0.6 0.5 Uncertain significance 0 -232281 Simple 876659669 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-01 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -232284 Simple 876659672 GG . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-01-23 17.7 1.25 Pathogenic 1 -232287 Simple 876659674 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-04-27 -0.5700000000000001 1.5 Uncertain significance 0 -232288 Simple 537187449 G . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-09-09 -14.4 1.25 Benign/Likely benign 0 -232291 Simple 876659676 C . Pathogenic/Likely pathogenic 2 3 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-06-21 11.4 0.6666666666666666 Pathogenic/Likely pathogenic 0 -232297 Simple 864622260 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-11 -0.87 1.3333333333333333 Uncertain significance 0 -232298 Simple 876659681 TT . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-21 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -232305 Simple 768197423 C . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.2 0.0 Uncertain significance 0 -232309 Simple 780130011 G . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-03-28 -5.7 1.0 Likely benign 0 -232315 Simple 751641472 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -232319 Simple 375210430 A . Benign/Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -14.100000000000001 1.5 Benign/Likely benign 0 -232320 Simple 876659695 - . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -232321 Simple 80358879 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -232332 Simple 775086466 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-02-21 -0.5700000000000001 1.5 Uncertain significance 0 -232338 Simple 41542214 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-23 -0.5700000000000001 1.5 Uncertain significance 0 -232340 Simple 774993357 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-02 -0.5700000000000001 1.5 Uncertain significance 0 -232343 Simple 876659710 C . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-11 8.7 1.0 Pathogenic/Likely pathogenic 0 -232344 Simple 397516435 C . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -232346 Simple 754562075 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-13 -0.87 1.0 Uncertain significance 0 -232352 Simple 876659400 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -0.87 0.6666666666666666 Uncertain significance 0 -232354 Simple 876659716 C . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -9.0 0.6666666666666666 Benign/Likely benign 1 -232356 Simple 876659718 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232358 Simple 876659719 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-06-27 -0.87 1.0 Uncertain significance 0 -232359 Simple 767234936 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -232362 Simple 756450772 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-26 -0.5700000000000001 1.5 Uncertain significance 0 -232365 Simple 376898203 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-28 -0.8999999999999999 1.0 Uncertain significance 0 -232370 Simple 199954851 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-10-11 -0.87 1.3333333333333333 Uncertain significance 0 -232371 Simple 752373431 T . Uncertain significance 2 5 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-25 -1.5 0.2 Uncertain significance 0 -232374 Simple 764892600 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2015-11-02 -5.4 2.0 Likely benign 0 -232379 Simple 786201177 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -0.6 0.5 Uncertain significance 0 -232382 Simple 876659729 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-18 -6.0 0.0 Likely benign 0 -232390 Simple 876659736 C . Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-01 8.7 0.6666666666666666 Pathogenic/Likely pathogenic 1 -232391 Simple 776407427 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-19 -0.5700000000000001 1.5 Uncertain significance 0 -232396 Simple 187491488 A . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-08 -0.87 1.0 Uncertain significance 0 -232400 Simple 876659743 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -232404 Simple 876659746 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -232406 Simple 876659747 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-10-13 -0.6 0.5 Uncertain significance 0 -232412 Simple 771458366 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.2 0.25 Uncertain significance 0 -232413 Simple 876659749 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 1 -232415 Simple 876659751 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.87 1.0 Uncertain significance 0 -232417 Simple 766212733 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-07-14 -6.0 1.0 Likely benign 0 -232425 Simple 876659756 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -232427 Simple 766004110 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-04-24 -0.5700000000000001 1.5 Uncertain significance 0 -232434 Simple 778868539 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.5 Uncertain significance 0 -232437 Simple 188813057 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-15 -8.7 0.6666666666666666 Benign/Likely benign 1 -232438 Simple 754254199 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232442 Simple 750349385 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -232443 Simple 876659768 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-03 -5.7 1.0 Likely benign 0 -232446 Simple 876659770 GG . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -232447 Simple 876659771 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232453 Simple 876659776 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-20 -0.5700000000000001 1.0 Uncertain significance 0 -232455 Simple 55934812 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-05-18 -8.4 1.6666666666666667 Benign/Likely benign 1 -232461 Simple 876659780 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-04 -5.7 1.0 Likely benign 0 -232470 Simple 876659785 C . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-25 -8.7 0.6666666666666666 Benign/Likely benign 1 -232476 Simple 772156559 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -232478 Simple 876659790 A . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-09-20 -0.87 1.0 Uncertain significance 0 -232481 Simple 531617441 G . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -1.5 0.4 Uncertain significance 0 -232482 Simple 759392029 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-09-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -232486 Simple 876659795 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -1.2 0.25 Uncertain significance 0 -232490 Simple 876659799 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-03 -0.54 2.0 Uncertain significance 0 -232492 Simple 876659801 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-28 -0.5700000000000001 1.5 Uncertain significance 0 -232493 Simple 145903082 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -232494 Simple 80359183 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232495 Simple 767123014 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-01-13 -0.87 1.3333333333333333 Uncertain significance 0 -232500 Simple 876659805 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232510 Simple 876659811 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-08 -0.87 1.0 Uncertain significance 0 -232513 Simple 762041905 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-04 -11.7 1.0 Benign/Likely benign 1 -232514 Simple 776643257 A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-06 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -232515 Simple 876659814 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232517 Simple 137854563 G . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-11 5.7 1.5 Likely pathogenic 0 -232519 Simple 876659817 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232522 Simple 876659819 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-21 -0.54 2.0 Uncertain significance 0 -232524 Simple 766191039 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-17 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -232528 Simple 767623493 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-08-12 10.8 2.0 Pathogenic/Likely pathogenic 1 -232530 Simple 876659822 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -232535 Simple 546225564 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -0.87 1.3333333333333333 Uncertain significance 0 -232537 Simple 80359009 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-22 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -232540 Simple 777538550 C . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.5 0.2 Uncertain significance 0 -232541 Simple 876659828 G . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -8.4 1.3333333333333333 Benign/Likely benign 1 -232544 Simple 876659831 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-15 -5.7 1.5 Likely benign 0 -232546 Simple 754648125 A . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-05-03 -1.47 1.0 Uncertain significance 0 -232548 Simple 876659834 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-25 -5.7 1.0 Likely benign 0 -232549 Simple 876659835 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-21 -0.5700000000000001 1.5 Uncertain significance 0 -232550 Simple 71379822 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -232558 Simple 367575159 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -11.7 1.0 Benign/Likely benign 1 -232560 Simple 866473840 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232564 Simple 202051128 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.87 1.0 Uncertain significance 0 -232566 Simple 876659842 - . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-21 -0.87 1.0 Uncertain significance 0 -232568 Simple 864622163 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -0.5700000000000001 1.0 Uncertain significance 0 -232573 Simple 876659847 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-01 -0.5700000000000001 1.5 Uncertain significance 0 -232574 Simple 876659848 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -232581 Simple 547142453 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -232582 Simple 374425261 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.0 Uncertain significance 0 -232585 Simple 374041375 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-07 -0.6 0.5 Uncertain significance 0 -232589 Simple 745361721 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-29 -1.2 0.25 Uncertain significance 0 -232590 Simple 876659856 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-13 -0.5700000000000001 1.0 Uncertain significance 0 -232594 Simple 876659859 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -232599 Simple 767208122 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -1.2 0.25 Uncertain significance 0 -232601 Simple 876659864 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232604 Simple 201529791 C . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-09-22 -0.8999999999999999 0.0 Uncertain significance 0 -232612 Simple 876659872 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -232613 Simple 876659873 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-11-25 -5.7 1.5 Likely benign 0 -232614 Simple 876659874 A . Pathogenic/Likely pathogenic 2 3 Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-07-06 14.7 0.6666666666666666 Pathogenic/Likely pathogenic 0 -232615 Simple 876659875 C . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-08-16 -0.5700000000000001 1.5 Uncertain significance 0 -232616 Simple 587780249 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-08-30 -0.5700000000000001 1.5 Uncertain significance 0 -232617 Simple 876659876 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-03 -0.5700000000000001 1.5 Uncertain significance 0 -232618 Simple 876659877 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-21 -0.5700000000000001 1.0 Uncertain significance 0 -232622 Simple 876659881 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-06-20 -5.7 1.5 Likely benign 0 -232623 Simple 876659882 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -11.7 0.75 Benign/Likely benign 1 -232625 Simple 758182607 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-23 -0.54 2.0 Uncertain significance 0 -232626 Simple 763954903 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -11.7 0.75 Benign/Likely benign 1 -232632 Simple 876659887 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-06-24 -0.54 2.0 Uncertain significance 0 -232635 Simple 759679443 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-14 -0.5700000000000001 1.5 Uncertain significance 0 -232640 Simple 2040793 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-22 -5.7 1.5 Likely benign 0 -232641 Simple 876659892 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232646 Simple 377388354 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.5 Uncertain significance 0 -232647 Simple 876659897 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -232651 Simple 876659901 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -232654 Simple 148335539 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-03 -0.6 0.5 Uncertain significance 0 -232655 Simple 547695133 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-03 -8.7 1.0 Benign/Likely benign 1 -232660 Simple 876659906 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-12-16 -0.54 2.0 Uncertain significance 0 -232664 Simple 876659909 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -8.7 1.0 Benign/Likely benign 1 -232665 Simple 431825287 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-15 -0.5700000000000001 1.5 Uncertain significance 0 -232667 Simple 746122031 C . Likely benign 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-05-10 -8.7 1.0 Benign/Likely benign 1 -232668 Simple 63750547 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -232672 Simple 781643712 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-02-24 -5.4 2.0 Likely benign 0 -232674 Simple 876659914 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -232677 Simple 747265823 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-20 -0.6 0.0 Uncertain significance 0 -232683 Simple 786202082 T . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-02-05 5.4 2.0 Likely pathogenic 0 -232686 Simple 876659922 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-05-07 -0.5700000000000001 1.5 Uncertain significance 0 -232700 Simple 876659934 C . Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-05-10 -5.7 1.0 Likely benign 0 -232701 Simple 758809865 A . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -11.7 1.0 Benign/Likely benign 1 -232705 Simple 876659936 T . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-04-25 -0.8999999999999999 0.0 Uncertain significance 0 -232706 Simple 753257724 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-12-13 -1.17 1.25 Uncertain significance 0 -232710 Simple 876659940 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -232711 Simple 876659941 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232713 Simple 876659943 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-05-07 -0.5700000000000001 1.5 Uncertain significance 0 -232715 Simple 769853739 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-13 -0.5700000000000001 1.5 Uncertain significance 0 -232718 Simple 752926571 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-12-15 -0.87 1.3333333333333333 Uncertain significance 0 -232721 Simple 876659946 TCCTCAGGTTCTTGGTCCTCAGGTTCTTGG . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -1.2 0.25 Uncertain significance 0 -232724 Simple 876659949 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-08 -5.7 1.5 Likely benign 0 -232725 Simple 876659950 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.0 Uncertain significance 0 -232729 Simple 876659952 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-03 -5.7 1.5 Likely benign 0 -232736 Simple 876659958 A . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-04-21 -5.7 1.5 Likely benign 0 -232740 Simple 770566177 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -232745 Simple 876659965 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-09 -0.5700000000000001 1.5 Uncertain significance 0 -232747 Simple 786202532 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232748 Simple 756778249 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -232753 Simple 368551951 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-07 -0.6 0.5 Uncertain significance 0 -232754 Simple 876659969 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-04 -0.5700000000000001 1.5 Uncertain significance 0 -232758 Simple 876659973 C . Pathogenic/Likely pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-02-01 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -232760 Simple 876659975 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 -0.87 1.0 Uncertain significance 0 -232761 Simple 147568421 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-04 -0.6 1.0 Uncertain significance 0 -232762 Simple 746351323 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-10 -0.6 0.5 Uncertain significance 0 -232763 Simple 876659976 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-10-24 -5.7 1.5 Likely benign 0 -232769 Simple 750561317 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-29 -0.6 1.0 Uncertain significance 0 -232775 Simple 373249008 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -232776 Simple 876659984 C . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -5.7 1.0 Likely benign 0 -232777 Simple 371619067 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -1.17 0.5 Uncertain significance 0 -232779 Simple 587781408 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-27 -8.7 1.0 Benign/Likely benign 1 -232781 Simple 773829275 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -1.2 0.5 Uncertain significance 0 -232783 Simple 377295676 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-06-16 -0.5700000000000001 1.5 Uncertain significance 0 -232785 Simple 587779230 A . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-08-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -232792 Simple 772703445 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-05-20 -0.6 1.0 Uncertain significance 0 -232795 Simple 758739620 C . Likely benign 3 6 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.7 0.8333333333333334 Benign/Likely benign 1 -232797 Simple 876659994 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -232800 Simple 761458613 T . Likely pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-19 5.7 1.0 Likely pathogenic 0 -232801 Simple 876659996 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -232803 Simple 876659997 TT . Pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-07 30.0 0.8 Pathogenic 0 -232804 Simple 876659998 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-09-08 -0.6 0.0 Uncertain significance 0 -232807 Simple 876660001 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-20 -0.6 0.0 Uncertain significance 0 -232811 Simple 876660004 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.0 Uncertain significance 0 -232813 Simple 876660005 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -232814 Simple 372169109 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-25 -0.5700000000000001 1.0 Uncertain significance 0 -232822 Simple 771887195 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-30 10.8 1.5 Pathogenic/Likely pathogenic 1 -232824 Simple 876660013 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-25 -0.5700000000000001 1.0 Uncertain significance 0 -232827 Simple 876660014 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -8.4 1.3333333333333333 Benign/Likely benign 1 -232828 Simple 571292356 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -232829 Simple 773108684 T . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -14.7 0.75 Benign/Likely benign 0 -232834 Simple 876660018 G . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-02-01 -0.5700000000000001 1.5 Uncertain significance 0 -232837 Simple 768384031 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-01-05 8.100000000000001 2.0 Likely pathogenic 1 -232848 Simple 111614311 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -232850 Simple 876660026 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -232855 Simple 147846364 T . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-03 -8.7 1.3333333333333333 Benign/Likely benign 1 -232857 Simple 876660030 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-09 -0.51 2.5 Uncertain significance 0 -232859 Simple 876660032 G . Likely benign 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-08-08 -5.7 1.5 Likely benign 0 -232860 Simple 374234848 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-14 -5.7 1.0 Likely benign 0 -232863 Simple 571800995 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -0.5700000000000001 1.5 Uncertain significance 0 -232866 Simple 562264493 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-14 -8.7 0.6666666666666666 Benign/Likely benign 1 -232873 Simple 876660041 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-08 11.4 1.5 Pathogenic/Likely pathogenic 1 -232874 Simple 876660042 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -232878 Simple 876660046 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.0 Uncertain significance 0 -232882 Simple 876660048 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232884 Simple 876660050 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-05 -0.5700000000000001 1.5 Uncertain significance 0 -232887 Simple 876660052 C . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-06-27 -5.7 1.5 Likely benign 0 -232888 Simple 876660053 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-25 -0.54 2.0 Uncertain significance 0 -232893 Simple 139632347 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-18 -5.7 1.0 Likely benign 0 -232895 Simple 768161162 C . Likely benign 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -8.7 1.0 Benign/Likely benign 1 -232902 Simple 876660061 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-12-13 11.4 1.5 Pathogenic/Likely pathogenic 1 -232903 Simple 876660062 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-06 -0.5700000000000001 1.5 Uncertain significance 0 -232905 Simple 876660063 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -232907 Simple 752137159 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -232908 Simple 876660064 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-09 -0.5700000000000001 1.5 Uncertain significance 0 -232917 Simple 63750258 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-13 -0.5700000000000001 1.5 Uncertain significance 0 -232922 Simple 397507819 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-23 -0.5700000000000001 1.5 Uncertain significance 0 -232923 Simple 876660076 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-27 -0.5700000000000001 1.5 Uncertain significance 0 -232924 Simple 186641437 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -0.87 1.0 Uncertain significance 0 -232928 Simple 546087885 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -1.2 0.25 Uncertain significance 0 -232931 Simple 876660081 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -232932 Simple 876660082 GG . Pathogenic/Likely pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-05-17 8.4 1.0 Pathogenic/Likely pathogenic 0 -232933 Simple 876660083 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-02 -0.5700000000000001 1.5 Uncertain significance 0 -232934 Simple 876660084 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -232938 Simple 876660086 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -232940 Simple 377308875 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.5 Uncertain significance 0 -232943 Simple 876660090 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-07-18 -0.87 1.0 Uncertain significance 0 -232945 Simple 876660092 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -232950 Simple 200239986 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -0.8999999999999999 0.0 Uncertain significance 0 -232952 Simple 776646018 C . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-18 -5.7 1.0 Likely benign 0 -232954 Simple 876660095 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-18 9.0 1.0 Pathogenic/Likely pathogenic 0 -232955 Simple 876660096 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-02-09 -0.81 2.0 Uncertain significance 0 -232961 Simple 781383087 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-02 -8.7 1.0 Benign/Likely benign 1 -232965 Simple 876660101 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-09 -0.6 1.0 Uncertain significance 0 -232966 Simple 80359207 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -232969 Simple 876660103 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-17 -0.5700000000000001 1.5 Uncertain significance 0 -232970 Simple 876660104 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -232973 Simple 876660107 G . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -0.87 1.0 Uncertain significance 0 -232977 Simple 876660109 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-07 -0.5700000000000001 1.5 Uncertain significance 0 -232981 Simple 876660113 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-07-10 -0.54 2.0 Uncertain significance 0 -232984 Simple 201931669 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -0.87 1.0 Uncertain significance 0 -232989 Simple 748432666 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-06-02 -5.7 1.5 Likely benign 0 -232990 Simple 746394738 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -232994 Simple 876660119 C . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-03-09 -0.5700000000000001 1.0 Uncertain significance 0 -232995 Simple 876660120 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-09-11 -0.5700000000000001 1.5 Uncertain significance 0 -232997 Simple 199862273 T . Uncertain significance 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.05 2.0 Uncertain significance 0 -232998 Simple 876660122 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-16 -0.6 0.5 Uncertain significance 0 -232999 Simple 876660123 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-03 -0.6 0.0 Uncertain significance 0 -233001 Simple 55653533 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -0.6 0.5 Uncertain significance 0 -233002 Simple 541325199 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -8.7 1.0 Benign/Likely benign 1 -233007 Simple 876660128 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-03 -5.7 1.5 Likely benign 0 -233010 Simple 876660130 T . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -233014 Simple 876660133 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233016 Simple 876660134 - . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-10 18.0 1.0 Pathogenic 0 -233019 Simple 551834979 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -233022 Simple 876660139 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-28 -0.84 1.3333333333333333 Uncertain significance 0 -233023 Simple 556778314 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -1.2 0.75 Uncertain significance 0 -233026 Simple 876660141 A . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-17 11.4 1.0 Pathogenic/Likely pathogenic 1 -233032 Simple 757441871 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-07 -0.6 0.5 Uncertain significance 0 -233045 Simple 753228011 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -233049 Simple 370636719 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-18 -5.7 1.5 Likely benign 0 -233056 Simple 876660161 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-11 -0.5700000000000001 1.5 Uncertain significance 0 -233057 Simple 876660162 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-12 -0.5700000000000001 1.5 Uncertain significance 0 -233061 Simple 876660165 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-05-03 -0.5700000000000001 1.5 Uncertain significance 0 -233064 Simple 150534625 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233065 Simple 757340619 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-01 -0.6 1.0 Uncertain significance 0 -233066 Simple 62625272 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-09 -0.6 0.0 Uncertain significance 0 -233070 Simple 876660168 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-16 -5.7 1.5 Likely benign 0 -233074 Simple 876660171 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-27 -0.5700000000000001 1.5 Uncertain significance 0 -233077 Simple 876660174 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-25 8.4 1.0 Pathogenic/Likely pathogenic 0 -233080 Simple 762744684 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -0.87 1.0 Uncertain significance 0 -233084 Simple 876660180 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-30 -0.54 2.0 Uncertain significance 0 -233087 Simple 876660183 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -1.2 0.0 Uncertain significance 0 -233092 Simple 876660188 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-12 -0.5700000000000001 1.5 Uncertain significance 0 -233094 Simple 876660190 ATCCATATCCAT . Pathogenic/Likely pathogenic 2 4 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-10-13 15.0 0.25 Pathogenic 1 -233095 Simple 876660191 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-08 -0.6 0.5 Uncertain significance 0 -233096 Simple 876660192 - . Uncertain significance 2 2 Lynch syndrome II;Hereditary cancer-predisposing syndrome 2016-09-07 -0.6 1.0 Uncertain significance 0 -233100 Simple 63750686 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -0.8999999999999999 0.0 Uncertain significance 0 -233101 Simple 876660194 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 16.8 2.0 Pathogenic 0 -233109 Simple 876660202 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-21 -8.7 1.3333333333333333 Benign/Likely benign 1 -233110 Simple 778138282 A . Likely benign 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-12-22 -8.7 1.3333333333333333 Benign/Likely benign 1 -233111 Simple 876660203 T . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-24 5.7 1.0 Likely pathogenic 0 -233112 Simple 747070579 T . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 26.1 1.6 Pathogenic 0 -233120 Simple 267607864 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233121 Simple 876660210 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.5 Uncertain significance 0 -233124 Simple 876660211 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-18 -0.87 1.0 Uncertain significance 0 -233130 Simple 754278187 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-11-25 -5.7 1.5 Likely benign 0 -233136 Simple 375338359 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-05 -0.5700000000000001 1.5 Uncertain significance 0 -233148 Simple 876660225 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -233151 Simple 183322618 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-10 -5.7 1.5 Likely benign 0 -233153 Simple 769731317 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-24 -0.81 2.0 Uncertain significance 0 -233154 Simple 373763567 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-12 -5.7 1.5 Likely benign 0 -233156 Simple 876660229 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-31 -0.5700000000000001 1.5 Uncertain significance 0 -233160 Simple 876660233 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.0 Uncertain significance 0 -233163 Simple 200296117 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-17 -8.7 1.0 Benign/Likely benign 1 -233164 Simple 876660235 AA . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-04-21 17.4 1.0 Pathogenic 0 -233168 Simple 374577419 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-30 -0.6 1.0 Uncertain significance 0 -233173 Simple 777217004 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233174 Simple 745797941 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-12-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -233180 Simple 373721483 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-22 -0.6 1.0 Uncertain significance 0 -233182 Simple 876660245 A . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-20 6.0 1.0 Likely pathogenic 0 -233186 Simple 876660248 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233188 Simple 772684048 C . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -1.17 0.75 Uncertain significance 0 -233189 Simple 587781460 A . Likely benign 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.0 Benign/Likely benign 1 -233190 Simple 750037588 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -5.7 1.0 Likely benign 0 -233195 Simple 876660253 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-16 -0.5700000000000001 1.0 Uncertain significance 0 -233196 Simple 571800995 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-11 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -233199 Simple 765060733 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-18 -0.5700000000000001 1.5 Uncertain significance 0 -233206 Simple 876660262 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-02 -0.6 0.5 Uncertain significance 0 -233210 Simple 749594501 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-28 -0.87 0.6666666666666666 Uncertain significance 0 -233215 Simple 876660265 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-28 -0.6 1.0 Uncertain significance 0 -233218 Simple 769889352 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-09 -0.5700000000000001 1.5 Uncertain significance 0 -233226 Simple 876660271 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-21 -5.7 1.5 Likely benign 0 -233227 Simple 765438014 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-20 -5.7 1.5 Likely benign 0 -233229 Simple 876660273 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -233232 Simple 373239341 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -233233 Simple 773049570 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-05-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -233237 Simple 876660279 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -233240 Simple 876660281 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-01 -0.5700000000000001 1.0 Uncertain significance 0 -233241 Simple 876660282 A . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -233243 Simple 876660284 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-14 -5.7 1.0 Likely benign 0 -233244 Simple 876660285 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -0.6 1.0 Uncertain significance 0 -233248 Simple 781595324 C . Uncertain significance 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.0 Uncertain significance 0 -233257 Simple 876660292 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-20 -0.5700000000000001 1.5 Uncertain significance 0 -233260 Simple 370781162 C . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-16 -5.7 1.0 Likely benign 0 -233261 Simple 17883862 C . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.5 0.8 Uncertain significance 0 -233270 Simple 876660299 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-03 -0.5700000000000001 1.0 Uncertain significance 0 -233273 Simple 876660301 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-28 -0.8999999999999999 1.0 Uncertain significance 0 -233277 Simple 876660304 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-26 -5.7 1.0 Likely benign 0 -233278 Simple 766213678 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -233279 Simple 876660305 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -233282 Simple 876660306 T . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-05-12 -5.7 1.5 Likely benign 0 -233286 Simple 755227053 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-09-10 -0.54 2.0 Uncertain significance 0 -233288 Simple 80356941 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-30 -0.8999999999999999 1.0 Uncertain significance 0 -233290 Simple 876660310 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233291 Simple 876660311 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.5 Pathogenic 0 -233293 Simple 876660313 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233297 Simple 876660317 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-29 -1.2 0.25 Uncertain significance 0 -233298 Simple 41295268 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-29 -1.2 0.25 Uncertain significance 0 -233300 Simple 762485848 CC . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-14 12.0 0.0 Pathogenic/Likely pathogenic 1 -233301 Simple 876660319 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -0.87 1.0 Uncertain significance 0 -233308 Simple 771525293 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-16 -0.6 0.5 Uncertain significance 0 -233309 Simple 876660325 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-25 -0.54 2.0 Uncertain significance 0 -233312 Simple 876660328 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -233317 Simple 864622635 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-25 -0.6 1.0 Uncertain significance 0 -233319 Simple 776402672 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-08 -11.4 1.25 Benign/Likely benign 1 -233325 Simple 757915374 T . Likely benign 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-02-17 -5.7 1.5 Likely benign 0 -233326 Simple 199575659 T . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-10 -8.7 1.0 Benign/Likely benign 1 -233331 Simple 876660339 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -233332 Simple 876660340 A . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-22 -0.84 1.3333333333333333 Uncertain significance 0 -233333 Simple 876660341 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -10.8 1.75 Benign/Likely benign 1 -233334 Simple 764458059 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-09-25 -0.6 0.5 Uncertain significance 0 -233341 Simple 151327241 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -0.87 1.0 Uncertain significance 0 -233350 Simple 876660349 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233351 Simple 876660350 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -233357 Simple 768095444 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-22 -0.6 1.0 Uncertain significance 0 -233359 Simple 397507912 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 20.4 1.5 Pathogenic 0 -233360 Simple 876660354 A . Benign/Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-08-13 -11.4 1.6666666666666667 Benign/Likely benign 0 -233362 Simple 876660355 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-08-08 -0.5700000000000001 1.0 Uncertain significance 0 -233363 Simple 876660356 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-09 -8.7 1.0 Benign/Likely benign 1 -233367 Simple 543606863 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.87 0.6666666666666666 Uncertain significance 0 -233369 Simple 876660361 A . Uncertain significance 2 5 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-30 -1.5 0.6 Uncertain significance 0 -233371 Simple 772222117 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.5 0.4 Uncertain significance 0 -233373 Simple 764855221 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-20 -5.7 1.5 Likely benign 0 -233375 Simple 564657106 C . Uncertain significance 2 5 Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-18 -1.5 1.0 Uncertain significance 0 -233376 Simple 769933461 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-07 -0.5700000000000001 1.5 Uncertain significance 0 -233380 Simple 369564500 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-10 -8.7 0.6666666666666666 Benign/Likely benign 1 -233381 Simple 876660367 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-13 -0.6 1.0 Uncertain significance 0 -233384 Simple 876660370 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233387 Simple 876660372 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-12 -5.7 1.5 Likely benign 0 -233391 Simple 876660374 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.87 0.6666666666666666 Uncertain significance 0 -233403 Simple 876660382 T . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-20 11.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -233405 Simple 780656204 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -0.87 1.0 Uncertain significance 0 -233407 Simple 876660384 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.5700000000000001 1.0 Uncertain significance 0 -233408 Simple 876659614 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-11 -0.5700000000000001 1.0 Uncertain significance 0 -233409 Simple 876660385 CAATCAAT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -233412 Simple 876660388 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-26 -5.7 1.5 Likely benign 0 -233413 Simple 876660389 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-11-06 -5.7 1.5 Likely benign 0 -233418 Simple 766438805 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-23 -5.7 1.5 Likely benign 0 -233425 Simple 876660399 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-30 -0.54 2.0 Uncertain significance 0 -233430 Simple 771267741 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-24 -0.87 1.3333333333333333 Uncertain significance 0 -233431 Simple 876660403 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.87 1.0 Uncertain significance 0 -233436 Simple 876660407 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -5.7 1.0 Likely benign 0 -233440 Simple 587780549 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233448 Simple 747418061 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233449 Simple 876660416 A . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-08 -5.7 1.0 Likely benign 0 -233450 Simple 376666221 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-17 -0.5700000000000001 1.0 Uncertain significance 0 -233454 Simple 876660419 A . Uncertain significance 2 2 Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -233456 Simple 876660420 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -0.5700000000000001 1.0 Uncertain significance 0 -233460 Simple 376561094 A . Pathogenic 2 3 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-09-25 17.4 0.6666666666666666 Pathogenic 0 -233461 Simple 876660424 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233462 Simple 876660425 GG . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -233465 Simple 773555449 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-13 -8.7 0.6666666666666666 Benign/Likely benign 1 -233471 Simple 876660429 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -5.7 1.0 Likely benign 0 -233472 Simple 758983771 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-10-10 -0.6 0.5 Uncertain significance 0 -233473 Simple 41293493 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-10 -0.5700000000000001 1.5 Uncertain significance 0 -233474 Simple 752251778 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -233475 Simple 876660430 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 11.4 1.0 Pathogenic/Likely pathogenic 1 -233479 Simple 587780749 T . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -233481 Simple 745399310 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.6 0.5 Uncertain significance 0 -233484 Simple 876660436 C . Pathogenic/Likely pathogenic 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-09 9.0 0.5 Pathogenic/Likely pathogenic 0 -233491 Simple 876660442 AA . Pathogenic 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-03-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -233493 Simple 483353072 TT . Pathogenic 3 8 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-04-22 46.2 1.125 Pathogenic 0 -233501 Simple 745837198 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-20 -5.7 1.5 Likely benign 0 -233504 Simple 876660450 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-08 -0.6 0.0 Uncertain significance 0 -233507 Simple 865782682 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-03-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233510 Simple 139088611 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -233511 Simple 876660453 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-17 -0.5700000000000001 1.5 Uncertain significance 0 -233513 Simple 751082926 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -233518 Simple 755665894 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -233525 Simple 876660462 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233529 Simple 748203812 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8999999999999999 0.0 Uncertain significance 0 -233534 Simple 876660470 G . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-09-28 -5.7 1.5 Likely benign 0 -233538 Simple 876660472 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -233541 Simple 876660475 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-21 -0.87 0.6666666666666666 Uncertain significance 0 -233544 Simple 755777007 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-02-06 -5.7 1.5 Likely benign 0 -233546 Simple 876660479 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-12 -5.7 1.5 Likely benign 0 -233549 Simple 775922721 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-25 -0.5700000000000001 1.0 Uncertain significance 0 -233550 Simple 876660482 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-15 -0.8999999999999999 0.0 Uncertain significance 0 -233553 Simple 876660485 T . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-28 17.4 0.6666666666666666 Pathogenic 0 -233560 Simple 764203580 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-08-31 -0.6 1.0 Uncertain significance 0 -233566 Simple 752527112 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-31 -0.6 0.0 Uncertain significance 0 -233569 Simple 377466333 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-30 -0.5700000000000001 1.0 Uncertain significance 0 -233573 Simple 876660495 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-22 11.4 1.0 Pathogenic/Likely pathogenic 1 -233576 Simple 876660498 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -1.2 0.25 Uncertain significance 0 -233580 Simple 78870221 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233582 Simple 876660502 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233583 Simple 876660503 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-09 -0.5700000000000001 1.5 Uncertain significance 0 -233585 Simple 876660505 A . Likely benign 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2016-11-02 -8.7 1.3333333333333333 Benign/Likely benign 1 -233587 Simple 769766446 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233592 Simple 876660508 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-02 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -233594 Simple 752514155 A . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-05-15 23.4 1.0 Pathogenic 0 -233597 Simple 751318331 A . Likely benign 2 1 not specified;Hereditary cancer-predisposing syndrome 2015-08-25 . 2.0 . 0 -233599 Simple 876660511 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-02 -0.5700000000000001 1.5 Uncertain significance 0 -233600 Simple 876660512 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -233605 Simple 876660517 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233607 Simple 768362387 A . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-14 14.4 0.6666666666666666 Pathogenic/Likely pathogenic 0 -233608 Simple 876660519 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.2 0.5 Uncertain significance 0 -233611 Simple 876658310 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -1.17 0.75 Uncertain significance 0 -233613 Simple 876660521 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-09 -0.54 2.0 Uncertain significance 0 -233614 Simple 876660522 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233615 Simple 750579940 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -8.7 0.6666666666666666 Benign/Likely benign 1 -233623 Simple 876660529 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-21 -8.7 0.6666666666666666 Benign/Likely benign 1 -233624 Simple 876660530 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-06 -0.87 1.3333333333333333 Uncertain significance 0 -233627 Simple 11540654 G . Likely pathogenic 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 5.7 1.0 Likely pathogenic 0 -233630 Simple 876660534 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233631 Simple 876660535 A . Likely pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-10-05 6.0 1.0 Likely pathogenic 0 -233637 Simple 746897461 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-09 -0.5700000000000001 1.5 Uncertain significance 0 -233638 Simple 876660539 T . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-09-06 -0.87 0.6666666666666666 Uncertain significance 0 -233641 Simple 10254120 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-16 -0.5700000000000001 1.5 Uncertain significance 0 -233643 Simple 876660543 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-28 -0.5700000000000001 1.5 Uncertain significance 0 -233644 Simple 529155918 G . Likely benign 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -11.7 0.75 Benign/Likely benign 1 -233646 Simple 876660545 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-13 -0.6 1.0 Uncertain significance 0 -233650 Simple 876660548 T . Pathogenic 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-12-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -233656 Simple 587782898 C . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-09 18.0 0.3333333333333333 Pathogenic 0 -233658 Simple 780299607 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-24 -1.14 1.0 Uncertain significance 0 -233662 Simple 876660555 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233665 Simple 876660558 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -233667 Simple 876660560 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.0 Uncertain significance 0 -233673 Simple 753834428 G . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233677 Simple 876660567 - . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-12-15 8.100000000000001 2.0 Likely pathogenic 1 -233678 Simple 760449049 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -233679 Simple 876660568 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-28 -0.5700000000000001 1.5 Uncertain significance 0 -233681 Simple 138952888 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-20 -5.7 1.0 Likely benign 0 -233687 Simple 772862503 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-09-27 -0.6 1.0 Uncertain significance 0 -233693 Simple 760045493 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-02-11 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -233699 Simple 748933763 C . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-01-04 -0.6 1.0 Uncertain significance 0 -233702 Simple 764646531 A . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -11.7 1.0 Benign/Likely benign 1 -233708 Simple 876660587 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -0.5700000000000001 1.0 Uncertain significance 0 -233709 Simple 876660588 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233710 Simple 749141001 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -233711 Simple 369583604 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.5700000000000001 1.0 Uncertain significance 0 -233713 Simple 775848374 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-02-28 -0.6 1.0 Uncertain significance 0 -233714 Simple 767209674 G . Likely benign 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2016-04-29 -5.7 1.5 Likely benign 0 -233729 Simple 876660603 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-12 -0.5700000000000001 1.0 Uncertain significance 0 -233730 Simple 876660604 T . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-14 -5.7 1.0 Likely benign 0 -233733 Simple 372868520 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-12-19 -5.4 2.0 Likely benign 0 -233734 Simple 876660605 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-25 -0.5700000000000001 1.5 Uncertain significance 0 -233738 Simple 752806052 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-05 -0.6 1.0 Uncertain significance 0 -233743 Simple 578218280 T . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -1.5 0.6 Uncertain significance 0 -233744 Simple 876660611 - . Pathogenic 2 3 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-08-29 17.4 0.6666666666666666 Pathogenic 0 -233748 Simple 876660614 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-06-30 -0.5700000000000001 1.5 Uncertain significance 0 -233750 Simple 63750016 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-24 -0.6 1.0 Uncertain significance 0 -233751 Simple 876660615 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-01-24 -0.6 1.0 Uncertain significance 0 -233752 Simple 876660616 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-13 -0.5700000000000001 1.5 Uncertain significance 0 -233753 Simple 876660617 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-19 -0.6 0.0 Uncertain significance 0 -233756 Simple 12947398 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-12-20 -0.5700000000000001 1.5 Uncertain significance 0 -233760 Simple 876660623 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-08-24 10.8 2.0 Pathogenic/Likely pathogenic 1 -233765 Simple 876660628 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -233766 Simple 757128712 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -233769 Simple 755805461 T . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-05-03 -1.2 0.75 Uncertain significance 0 -233770 Simple 876660630 - . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -233771 Simple 762702502 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-15 -0.6 0.5 Uncertain significance 0 -233775 Simple 876660633 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-01 -0.5700000000000001 1.5 Uncertain significance 0 -233776 Simple 573290117 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-11 -0.6 0.0 Uncertain significance 0 -233786 Simple 876660637 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -233787 Simple 556684572 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233794 Simple 370955311 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -1.17 0.5 Uncertain significance 0 -233797 Simple 876660644 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-10 -0.6 0.0 Uncertain significance 0 -233798 Simple 876660645 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -233799 Simple 876660646 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2016-09-20 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -233800 Simple 876660647 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.5 Uncertain significance 0 -233803 Simple 876660649 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-04-05 -0.5700000000000001 1.5 Uncertain significance 0 -233810 Simple 876660654 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -233815 Simple 876660657 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-17 -5.7 1.0 Likely benign 0 -233818 Simple 375315737 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-09 -0.6 0.5 Uncertain significance 0 -233827 Simple 375048835 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-04 -0.6 0.0 Uncertain significance 0 -233828 Simple 876660668 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -233831 Simple 755516286 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -233832 Simple 45496492 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -233833 Simple 876660670 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-20 -5.7 1.5 Likely benign 0 -233841 Simple 876660677 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-16 -0.6 0.5 Uncertain significance 0 -233845 Simple 876660680 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-17 -0.87 0.6666666666666666 Uncertain significance 0 -233847 Simple 376655102 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-27 -0.5700000000000001 1.0 Uncertain significance 0 -233851 Simple 368980595 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-24 -5.7 1.0 Likely benign 0 -233854 Simple 876660684 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-21 -0.5700000000000001 1.0 Uncertain significance 0 -233856 Simple 201914670 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -233858 Simple 876660687 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -233867 Simple 876660694 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-07 -0.5700000000000001 1.5 Uncertain significance 0 -233870 Simple 876660697 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-02 -0.5700000000000001 1.0 Uncertain significance 0 -233872 Simple 876660699 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -233873 Simple 876660700 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -233875 Simple 755209182 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -233877 Simple 876660702 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -3.8699999999999997 1.0 Uncertain significance 2 -233878 Simple 876660703 A . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-09-13 -8.7 1.3333333333333333 Benign/Likely benign 1 -233882 Simple 369631413 T . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-14 -5.7 1.0 Likely benign 0 -233886 Simple 876660709 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -233888 Simple 876660711 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233890 Simple 876660713 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.87 0.6666666666666666 Uncertain significance 0 -233892 Simple 876660715 C . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233895 Simple 750341436 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -1.1400000000000001 1.25 Uncertain significance 0 -233903 Simple 876660722 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -233905 Simple 876660724 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-15 -0.6 1.0 Uncertain significance 0 -233906 Simple 876660725 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-06 -5.7 1.5 Likely benign 0 -233910 Simple 876660727 G . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-05-02 -8.4 1.6666666666666667 Benign/Likely benign 1 -233914 Simple 752780416 T . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-07-12 -5.7 1.0 Likely benign 0 -233915 Simple 876660730 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -233917 Simple 763606858 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -233921 Simple 876660733 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-26 -0.5700000000000001 1.0 Uncertain significance 0 -233924 Simple 876660735 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2015-12-28 -5.4 2.0 Likely benign 0 -233928 Simple 62625285 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-16 -0.87 1.0 Uncertain significance 0 -233929 Simple 876660737 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-20 -5.7 1.0 Likely benign 0 -233930 Simple 866402530 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -233931 Simple 532480170 A . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -11.4 1.0 Benign/Likely benign 1 -233935 Simple 876660741 TT . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-02-28 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -233936 Simple 387907159 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-21 -0.5700000000000001 1.5 Uncertain significance 0 -233937 Simple 876660742 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.87 1.0 Uncertain significance 0 -233943 Simple 730881769 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -0.6 0.5 Uncertain significance 0 -233955 Simple 876660757 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-20 -0.5700000000000001 1.5 Uncertain significance 0 -233962 Simple 748700385 A . Uncertain significance 2 4 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-04 -1.17 1.0 Uncertain significance 0 -233969 Simple 749053313 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-24 -0.54 2.0 Uncertain significance 0 -233973 Simple 876658355 A . Pathogenic/Likely pathogenic 2 1 not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-12-01 . 1.0 . 0 -233978 Simple 876660770 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -1.2 0.0 Uncertain significance 0 -233979 Simple 876660771 A . Pathogenic 2 3 Hereditary diffuse gastric cancer;not provided;Hereditary cancer-predisposing syndrome 2017-04-24 17.4 1.0 Pathogenic 0 -233980 Simple 876660772 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -233981 Simple 876660773 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-10 -5.7 1.0 Likely benign 0 -233987 Simple 876660777 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -233990 Simple 145012438 C . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -233992 Simple 774755404 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-16 -1.2 0.75 Uncertain significance 0 -233993 Simple 876660781 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -233998 Simple 876660785 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -233999 Simple 876660786 AATATTTGCCTCAATATTTGCCTC . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-05-03 -0.5700000000000001 1.5 Uncertain significance 0 -234000 Simple 876660787 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-23 11.4 1.5 Pathogenic/Likely pathogenic 1 -234003 Simple 876660789 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2015-12-07 -5.4 2.0 Likely benign 0 -234006 Simple 529779203 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-18 -0.5700000000000001 1.0 Uncertain significance 0 -234007 Simple 876660791 G . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-06 -0.5700000000000001 1.0 Uncertain significance 0 -234008 Simple 1799952 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -234009 Simple 876660792 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-10-27 -0.87 1.3333333333333333 Uncertain significance 0 -234010 Simple 876660793 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -234011 Simple 537737635 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -234013 Simple 876660795 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -234015 Simple 376046767 C . Benign/Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-16 -13.8 1.75 Benign/Likely benign 0 -234020 Simple 201780199 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -234021 Simple 763100088 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-12 -0.6 0.5 Uncertain significance 0 -234022 Simple 876660800 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-11 -5.7 1.0 Likely benign 0 -234035 Simple 753912045 A . Uncertain significance 2 5 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -1.44 0.8 Uncertain significance 0 -234037 Simple 755965977 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -1.2 0.25 Uncertain significance 0 -234038 Simple 876660808 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -234047 Simple 876660816 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-11-19 8.100000000000001 2.0 Likely pathogenic 1 -234052 Simple 761889172 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-07-11 -5.7 1.5 Likely benign 0 -234053 Simple 876660819 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-29 -0.5700000000000001 1.5 Uncertain significance 0 -234055 Simple 876660821 G . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-11-02 -5.7 1.5 Likely benign 0 -234057 Simple 876660823 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -234059 Simple 766786605 G . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.2 0.25 Uncertain significance 0 -234065 Simple 777195739 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-23 -8.7 0.6666666666666666 Benign/Likely benign 1 -234066 Simple 876660828 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-09 -0.6 0.5 Uncertain significance 0 -234071 Simple 137854598 A . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-05-22 -0.5700000000000001 1.5 Uncertain significance 0 -234084 Simple 876660839 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-16 -0.87 1.0 Uncertain significance 0 -234088 Simple 876660841 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-24 -0.6 1.0 Uncertain significance 0 -234089 Simple 876660842 TT . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-26 11.4 1.5 Pathogenic/Likely pathogenic 1 -234090 Simple 755973863 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -234091 Simple 876660843 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-18 -0.5700000000000001 1.5 Uncertain significance 0 -234092 Simple 876660844 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-18 -0.5700000000000001 1.5 Uncertain significance 0 -234094 Simple 200732832 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -234095 Simple 781578248 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-13 -0.5700000000000001 1.0 Uncertain significance 0 -234097 Simple 876660846 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-09-27 -0.87 1.3333333333333333 Uncertain significance 0 -234109 Simple 876660855 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-22 -0.6 1.0 Uncertain significance 0 -234115 Simple 749842477 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-15 -0.6 1.0 Uncertain significance 0 -234117 Simple 762745326 T . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -8.7 1.0 Benign/Likely benign 1 -234124 Simple 876660865 - . Pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-23 24.0 0.5 Pathogenic 0 -234126 Simple 876660866 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-21 -0.5700000000000001 1.5 Uncertain significance 0 -234128 Simple 771426077 G . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -8.7 1.0 Benign/Likely benign 1 -234130 Simple 876660868 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -234135 Simple 876660871 G . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-27 -1.47 0.8 Uncertain significance 0 -234137 Simple 876660873 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-01 -0.5700000000000001 1.0 Uncertain significance 0 -234138 Simple 876660874 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-12 -0.5700000000000001 1.5 Uncertain significance 0 -234140 Simple 876660876 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.17 0.5 Uncertain significance 0 -234147 Simple 876660882 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234152 Simple 876660887 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-27 -0.5700000000000001 1.5 Uncertain significance 0 -234154 Simple 876660888 C . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2016-12-06 -0.5700000000000001 1.5 Uncertain significance 0 -234156 Simple 758677638 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.8 Benign/Likely benign 1 -234159 Simple 876660891 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-29 -5.7 1.5 Likely benign 0 -234161 Simple 758742390 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-27 -5.7 1.5 Likely benign 0 -234165 Simple 762648843 A . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-08-16 6.0 0.0 Likely pathogenic 0 -234167 Simple 876660896 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-21 -5.4 2.0 Likely benign 0 -234168 Simple 876660897 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -6.27 1.3333333333333333 Likely benign 0 -234170 Simple 876660898 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -0.87 1.0 Uncertain significance 0 -234175 Simple 767796996 A . Likely pathogenic 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-06-30 6.0 0.0 Likely pathogenic 0 -234177 Simple 876660902 A . Likely benign 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-09-26 -8.7 0.6666666666666666 Benign/Likely benign 1 -234181 Simple 876660905 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -0.6 0.5 Uncertain significance 0 -234182 Simple 876660906 G . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.0 Uncertain significance 0 -234185 Simple 876660908 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-25 -0.5700000000000001 1.0 Uncertain significance 0 -234186 Simple 876660909 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-18 -0.5700000000000001 1.5 Uncertain significance 0 -234188 Simple 146455343 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-19 -0.6 0.5 Uncertain significance 0 -234191 Simple 876660912 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-09-23 -0.54 2.0 Uncertain significance 0 -234192 Simple 876660913 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-08 -8.7 1.0 Benign/Likely benign 1 -234195 Simple 759730492 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-12-02 -0.8999999999999999 1.0 Uncertain significance 0 -234197 Simple 876660917 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Rhabdomyosarcoma 2015-09-28 -0.54 2.0 Uncertain significance 0 -234200 Simple 745937181 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -234206 Simple 876660925 C . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-18 -8.7 1.0 Benign/Likely benign 1 -234207 Simple 368488821 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.0 Uncertain significance 0 -234212 Simple 876660930 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-28 -5.7 1.5 Likely benign 0 -234216 Simple 876660933 T . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-03-10 14.100000000000001 1.3333333333333333 Pathogenic/Likely pathogenic 0 -234217 Simple 80359179 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -234218 Simple 876660934 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234219 Simple 876660935 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-03-04 -0.81 2.0 Uncertain significance 0 -234220 Simple 876660936 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-21 -0.87 0.6666666666666666 Uncertain significance 0 -234221 Simple 876660937 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.17 0.75 Uncertain significance 0 -234223 Simple 876660939 A . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -0.5700000000000001 1.0 Uncertain significance 0 -234227 Simple 876660942 T . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 1.0 Benign/Likely benign 1 -234228 Simple 876660943 T . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-06 6.0 0.0 Likely pathogenic 0 -234229 Simple 372267274 G . Pathogenic/Likely pathogenic 2 6 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-07-05 31.2 1.1666666666666667 Pathogenic 1 -234230 Simple 372834825 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -11.4 1.0 Benign/Likely benign 1 -234238 Simple 876660950 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234239 Simple 876660951 A . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-01-12 -5.7 1.5 Likely benign 0 -234243 Simple 369843642 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-12-04 -0.6 1.0 Uncertain significance 0 -234246 Simple 766044684 TT . Pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-02-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -234249 Simple 876660957 C . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-07-27 6.0 0.5 Likely pathogenic 0 -234255 Simple 763984813 C . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2017-02-07 -0.6 1.0 Uncertain significance 0 -234260 Simple 148328539 C . Likely benign 2 2 not specified 2016-07-07 -6.0 1.0 Likely benign 0 -234262 Simple 876660962 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.5 Uncertain significance 0 -234263 Simple 876660963 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-08-01 -0.6 0.0 Uncertain significance 0 -234265 Simple 769857066 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -0.87 0.6666666666666666 Uncertain significance 0 -234267 Simple 876660964 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-08 -0.87 1.0 Uncertain significance 0 -234271 Simple 777282977 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-04-25 -0.5700000000000001 1.0 Uncertain significance 0 -234273 Simple 876660965 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-05-30 -0.6 0.5 Uncertain significance 0 -234274 Simple 373911689 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-07 -0.6 0.0 Uncertain significance 0 -234275 Simple 876660966 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.87 0.6666666666666666 Uncertain significance 0 -234278 Simple 876660967 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-05-17 -0.87 1.0 Uncertain significance 0 -234281 Simple 771028677 - . Pathogenic/Likely pathogenic 2 6 Familial cancer of breast;Fanconi anemia, complementation group J;Neoplasm of ovary;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 26.4 0.8333333333333334 Pathogenic 1 -234283 Simple 775484115 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -234298 Simple 876660971 G . Uncertain significance 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-06-14 -1.1099999999999999 1.75 Uncertain significance 0 -234311 Simple 372338418 G . Uncertain significance 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -0.8999999999999999 0.0 Uncertain significance 0 -234316 Simple 145226920 A . Pathogenic 2 5 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;not provided;Charcot-Marie-Tooth disease, axonal, type 2S 2017-11-08 28.8 0.8 Pathogenic 0 -234320 Simple 876660980 A . Pathogenic 2 2 Alagille syndrome 1;not provided 2016-04-07 11.4 1.5 Pathogenic/Likely pathogenic 1 -234323 Simple 149419694 T . Uncertain significance 2 2 Alagille syndrome 1;not specified 2016-05-16 -0.5700000000000001 1.5 Uncertain significance 0 -234331 Simple 540544894 T . Uncertain significance 2 2 Majeed syndrome;not specified 2017-09-28 -0.6 0.5 Uncertain significance 0 -234340 Simple 781778980 A . Uncertain significance 2 2 not specified 2016-09-04 -0.51 2.5 Uncertain significance 0 -234342 Simple 876660987 G . Uncertain significance 2 2 Majeed syndrome;not specified 2017-07-31 -0.6 0.0 Uncertain significance 0 -234343 Simple 201160155 A . Uncertain significance 2 2 Majeed syndrome;not specified 2017-04-07 -0.6 0.5 Uncertain significance 0 -234371 Simple 587779026 - . Uncertain significance 3 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2013-09-05 -3.831 1.25 Uncertain significance 0 -234375 Simple 116750638 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified;not provided 2017-07-28 -9.0 0.0 Benign/Likely benign 0 -234384 Simple 2272581 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-22 -5.7 1.5 Likely benign 0 -234412 Simple 202084411 G . Benign/Likely benign 2 4 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified;not provided;Inherited Erythromelalgia 2017-08-03 -15.0 0.5 Benign/Likely benign 0 -234414 Simple 139192433 T . Uncertain significance 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2017-08-07 -1.2 0.5 Uncertain significance 0 -234416 Simple 876661012 AA . Pathogenic 2 2 not provided 2017-01-07 12.0 1.0 Pathogenic/Likely pathogenic 1 -234417 Simple 773604294 T . Likely benign 2 2 Peutz-Jeghers syndrome;not specified 2016-09-13 -6.0 1.0 Likely benign 0 -234419 Simple 752015385 T . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -234438 Simple 587781537 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -1.17 0.75 Uncertain significance 0 -234439 Simple 762206330 T . Uncertain significance 2 2 Lynch syndrome;not specified 2016-12-24 -0.5700000000000001 1.5 Uncertain significance 0 -234443 Simple 149000772 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-24 -0.6 0.0 Uncertain significance 0 -234445 Simple 876661023 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-09-25 17.4 1.0 Pathogenic 0 -234447 Simple 778957100 T . Likely benign 2 2 Lynch syndrome;not specified 2016-04-09 -5.7 1.5 Likely benign 0 -234450 Simple 756216566 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -0.87 1.0 Uncertain significance 0 -234451 Simple 200089542 G . Uncertain significance 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-06-14 -1.17 1.25 Uncertain significance 0 -234453 Simple 876661027 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -1.2 0.75 Uncertain significance 0 -234455 Simple 146006741 G . Uncertain significance 2 2 Lynch syndrome;not specified 2016-12-11 -0.6 1.0 Uncertain significance 0 -234462 Simple 762134820 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -234463 Simple 876661032 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-08-01 -0.5700000000000001 1.0 Uncertain significance 0 -234465 Simple 199422137 - . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2015-04-16 9.0 3.5 Pathogenic/Likely pathogenic 1 -234466 Simple 754554026 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-14 -0.6 0.0 Uncertain significance 0 -234470 Simple 876661035 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -234477 Simple 876661039 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234481 Simple 777028631 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -0.8999999999999999 0.0 Uncertain significance 0 -234483 Simple 876661043 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234497 Simple 876661053 T . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-02-17 -0.5700000000000001 1.5 Uncertain significance 0 -234503 Simple 756463217 T . Uncertain significance 2 6 Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.7999999999999998 0.6666666666666666 Uncertain significance 0 -234504 Simple 199739450 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -6.0 0.5 Likely benign 0 -234505 Simple 371418985 T . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-04-18 24.0 0.8 Pathogenic 1 -234506 Simple 876661056 T . Pathogenic 2 4 Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-01-18 24.0 1.0 Pathogenic 0 -234507 Simple 876661057 T . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -1.17 0.5 Uncertain significance 0 -234508 Simple 760228510 A . Pathogenic 2 4 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-25 24.0 0.5 Pathogenic 0 -234518 Simple 533306015 T . Pathogenic 2 2 Alagille syndrome 1;not provided 2017-10-31 12.0 0.5 Pathogenic/Likely pathogenic 1 -234521 Simple 730881737 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -234528 Simple 876661065 C . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234533 Simple 876661067 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-01 -1.17 1.25 Uncertain significance 0 -234537 Simple 876661071 A . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-03-03 -0.6 1.0 Uncertain significance 0 -234538 Simple 115386788 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -0.87 1.0 Uncertain significance 0 -234540 Simple 267607878 T . Uncertain significance 2 3 not specified;Hereditary nonpolyposis colon cancer 2017-07-19 -0.87 1.0 Uncertain significance 0 -234541 Simple 775207779 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -234545 Simple 766711342 G . Uncertain significance 3 4 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2016-11-03 -1.23 0.5 Uncertain significance 0 -234548 Simple 876661078 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;not specified 2017-08-04 -0.6 0.5 Uncertain significance 0 -234550 Simple 876661080 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -0.6 1.0 Uncertain significance 0 -234553 Simple 876661082 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-14 -0.5700000000000001 1.5 Uncertain significance 0 -234556 Simple 876661083 C . Uncertain significance 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234557 Simple 779858670 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-14 -1.2 0.0 Uncertain significance 0 -234558 Simple 876661084 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.87 0.6666666666666666 Uncertain significance 0 -234562 Simple 780345806 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-20 -0.87 1.3333333333333333 Uncertain significance 0 -234564 Simple 774496371 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -8.7 0.6666666666666666 Benign/Likely benign 1 -234566 Simple 876661089 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -0.87 1.0 Uncertain significance 0 -234569 Simple 200071978 A . Uncertain significance 2 2 Giant axonal neuropathy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -234570 Simple 764803896 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-01-20 -0.87 1.3333333333333333 Uncertain significance 0 -234572 Simple 876661092 - . Uncertain significance 2 2 Lynch syndrome;not specified 2016-05-27 -0.5700000000000001 1.5 Uncertain significance 0 -234575 Simple 80358628 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-11 -0.5700000000000001 1.5 Uncertain significance 0 -234582 Simple 730881724 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-06-26 -0.6 0.5 Uncertain significance 0 -234584 Simple 374006397 G . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.2 0.0 Uncertain significance 0 -234588 Simple 187572602 T . Uncertain significance 2 2 Majeed syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -234589 Simple 63750877 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-21 -0.5700000000000001 1.5 Uncertain significance 0 -234593 Simple 876661105 T . Uncertain significance 2 2 Lynch syndrome;not specified 2016-01-01 -0.54 2.0 Uncertain significance 0 -234604 Simple 876661113 A . Pathogenic 2 4 not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-11 24.0 0.5 Pathogenic 0 -234609 Simple 876661117 - . Uncertain significance 2 2 not specified;not provided 2016-12-16 -0.6 1.0 Uncertain significance 0 -234610 Simple 876661118 CC . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-23 11.4 1.5 Pathogenic/Likely pathogenic 1 -234621 Simple 63751077 G . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -234626 Simple 876661127 CTCT . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-13 -0.87 1.3333333333333333 Uncertain significance 0 -234627 Simple 748763466 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-17 -0.87 1.3333333333333333 Uncertain significance 0 -234632 Simple 786203981 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-20 -0.51 2.5 Uncertain significance 0 -234647 Simple 876661138 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-20 -0.87 1.0 Uncertain significance 0 -234652 Simple 113517055 T . Likely pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-09-01 6.0 0.0 Likely pathogenic 0 -234661 Simple 372846619 A . Uncertain significance 2 5 not specified;not provided;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-02-28 -1.47 1.2 Uncertain significance 0 -234670 Simple 587783051 A . Uncertain significance 2 5 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-12-01 -1.5 0.6 Uncertain significance 0 -234672 Simple 571668582 C . Uncertain significance 2 2 Fanconi anemia;not specified 2017-02-24 -0.5700000000000001 1.5 Uncertain significance 0 -234675 Simple 369661561 G . Likely pathogenic 2 2 Spinal muscular atrophy, distal, autosomal recessive, 5;not provided 2017-08-04 5.7 1.0 Likely pathogenic 0 -234677 Simple 876661156 GG . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-05-25 8.7 1.5 Pathogenic/Likely pathogenic 0 -234679 Simple 876661158 G . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-03-15 -0.5700000000000001 1.0 Uncertain significance 0 -234681 Simple 148831705 C . Uncertain significance 2 2 Hereditary sensory neuropathy type IE;not specified 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -234685 Simple 876661161 AGGCCCAGGCCC . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -0.5700000000000001 1.5 Uncertain significance 0 -234689 Simple 773245315 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-11 -0.5700000000000001 1.5 Uncertain significance 0 -234702 Simple 375336614 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -0.87 0.6666666666666666 Uncertain significance 0 -234709 Simple 764460003 A . Uncertain significance 2 2 Neuropathy hereditary sensory and autonomic type 1;not specified 2017-05-18 -0.5700000000000001 1.0 Uncertain significance 0 -234714 Simple 200566598 A . Uncertain significance 2 2 Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2016-10-06 -0.6 1.0 Uncertain significance 0 -234719 Simple 267607732 G . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-08-15 8.7 1.0 Pathogenic/Likely pathogenic 0 -234725 Simple 35698242 G . Uncertain significance 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-07-31 -0.6 0.0 Uncertain significance 0 -234726 Simple 781671762 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-15 -0.6 0.0 Uncertain significance 0 -234727 Simple 760044422 C . Uncertain significance 2 2 not specified;not provided 2016-08-31 -0.5700000000000001 1.5 Uncertain significance 0 -234733 Simple 876661186 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -0.87 0.6666666666666666 Uncertain significance 0 -234737 Simple 587780247 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2017-05-11 -0.5700000000000001 1.0 Uncertain significance 0 -234747 Simple 749746725 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-23 -1.17 0.75 Uncertain significance 0 -234751 Simple 876661198 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -234753 Simple 876661199 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -234759 Simple 876661203 T . Likely pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-05-03 5.7 1.0 Likely pathogenic 0 -234761 Simple 876661205 - . Pathogenic 2 4 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-16 22.8 1.0 Pathogenic 0 -234765 Simple 772683219 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-11-14 18.0 0.3333333333333333 Pathogenic 0 -234768 Simple 876661207 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -234770 Simple 377423720 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -234772 Simple 750563193 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234787 Simple 778900546 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-10-27 -0.6 0.5 Uncertain significance 0 -234788 Simple 398122756 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-11 -0.5700000000000001 1.5 Uncertain significance 0 -234791 Simple 763353991 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -0.87 0.6666666666666666 Uncertain significance 0 -234794 Simple 876661222 ATTAATTA . Pathogenic/Likely pathogenic 2 4 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-01-16 20.4 1.25 Pathogenic 1 -234798 Simple 876661224 TT . Uncertain significance 2 2 Lynch syndrome;not specified 2016-05-27 -0.5700000000000001 1.5 Uncertain significance 0 -234799 Simple 876661106 G . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-07-21 -0.87 1.3333333333333333 Uncertain significance 0 -234806 Simple 749571694 G . Uncertain significance 2 2 Dilated cardiomyopathy 1P;not specified 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -234813 Simple 876661233 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-04 -0.5700000000000001 1.5 Uncertain significance 0 -234818 Simple 876661236 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -234824 Simple 765812659 A . Uncertain significance 2 4 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2016-06-14 -1.17 1.25 Uncertain significance 0 -234828 Simple 876661242 A . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 29.4 1.4 Pathogenic 0 -234831 Simple 876661245 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -0.87 1.0 Uncertain significance 0 -234838 Simple 876661250 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -0.87 1.0 Uncertain significance 0 -234851 Simple 876661256 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -0.87 0.6666666666666666 Uncertain significance 0 -234855 Simple 876661260 C . Uncertain significance 2 2 not specified 2016-03-21 -0.5700000000000001 1.5 Uncertain significance 0 -234857 Simple 376922615 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;not specified 2017-01-24 -0.5700000000000001 1.5 Uncertain significance 0 -234861 Simple 876661264 A . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -0.87 1.0 Uncertain significance 0 -234864 Simple 542838372 G . Uncertain significance 2 5 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-09 -1.47 1.0 Uncertain significance 0 -234869 Simple 192720342 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-26 -0.54 2.0 Uncertain significance 0 -234874 Simple 141464646 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-01-11 -0.5700000000000001 1.5 Uncertain significance 0 -234876 Simple 142782210 A . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 2 2017-06-22 -0.6 0.5 Uncertain significance 0 -234884 Simple 376582345 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -234892 Simple 200192044 C . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-07-27 -0.6 0.5 Uncertain significance 0 -234893 Simple 201994523 T . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-07-27 -0.6 0.5 Uncertain significance 0 -234895 Simple 80359808 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -234896 Simple 876661281 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234897 Simple 62640031 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-03-30 -0.6 0.5 Uncertain significance 0 -234907 Simple 141873613 G . Uncertain significance 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -234911 Simple 876661289 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-07-03 -0.6 1.0 Uncertain significance 0 -234912 Simple 142927667 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -1.2 0.25 Uncertain significance 0 -234913 Simple 876661290 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2E;not specified 2017-04-17 -0.6 0.5 Uncertain significance 0 -234914 Simple 876661291 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-14 -1.2 0.5 Uncertain significance 0 -234916 Simple 876661293 T . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-05-02 -0.6 0.5 Uncertain significance 0 -234917 Simple 765958389 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-05-18 -0.6 0.5 Uncertain significance 0 -234978 Simple 80191629 G . Uncertain significance 2 3 Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -234981 Simple 138928206 T . Uncertain significance 2 4 Long QT syndrome;not specified;Cardiovascular phenotype 2017-07-14 -1.1099999999999999 1.25 Uncertain significance 0 -234982 Simple 876661342 A . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1HH;not provided 2016-12-22 9.0 1.0 Pathogenic/Likely pathogenic 0 -234983 Simple 876661343 A . Uncertain significance 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2016-12-22 -0.6 1.0 Uncertain significance 0 -234984 Simple 373124557 A . Uncertain significance 2 3 Long QT syndrome;not specified;Short QT Syndrome 4 2017-07-18 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -234987 Simple 561653481 C . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;Cardiovascular phenotype 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -235003 Simple 774886148 G . Uncertain significance 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-05-08 -0.6 0.5 Uncertain significance 0 -235027 Simple 876661370 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-21 -0.48 2.5 Uncertain significance 0 -235030 Simple 772442923 C . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-05-11 -0.5700000000000001 1.5 Uncertain significance 0 -235043 Simple 35574083 GCTGCT . Benign/Likely benign 2 2 Familial hypercholesterolemia;not specified 2017-07-07 -11.4 1.0 Benign/Likely benign 0 -235046 Simple 876661383 A . Uncertain significance 2 3 not specified;Rasopathy;Cardiovascular phenotype 2017-07-24 -0.87 0.6666666666666666 Uncertain significance 0 -235206 Simple 147498164 T . Likely benign 2 2 Epidermolysis bullosa simplex;not provided 2016-06-14 -5.7 1.5 Likely benign 0 -235210 Simple 62622373 C . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;not specified;not provided 2017-04-26 -14.7 1.0 Benign/Likely benign 0 -235216 Simple 150393340 A . Uncertain significance 2 2 not specified;not provided 2016-05-05 -0.6 1.0 Uncertain significance 0 -235218 Simple 143097446 T . Likely benign 2 3 not specified;not provided;3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2017-07-25 -9.0 0.3333333333333333 Benign/Likely benign 1 -235221 Simple 11575935 T . Benign/Likely benign 2 3 not provided;Immunodeficiency 30;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -235223 Simple 35482838 A . Benign/Likely benign 2 3 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not provided;Hyper-IgE syndrome 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -235224 Simple 11711062 T . Benign 2 3 Brugada syndrome;not specified;not provided 2017-08-04 -18.0 0.6666666666666666 Benign/Likely benign 1 -235230 Simple 3007419 C . Benign/Likely benign 2 5 Distal spinal muscular atrophy, autosomal recessive 4;not specified;not provided;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy 2017-07-20 -26.4 1.0 Benign 1 -235236 Simple 41302407 C . Benign/Likely benign 2 2 not provided;Antenatal Bartter Syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235243 Simple 201591789 A . Uncertain significance 2 2 Donnai Barrow syndrome;not provided 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -235255 Simple 878852992 T . Uncertain significance 2 3 not specified;not provided 2017-10-09 -0.87 1.0 Uncertain significance 0 -235257 Simple 528966598 T . Uncertain significance 2 2 Infantile neuroaxonal dystrophy;not provided 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -235258 Simple 115600591 A . Likely benign 2 2 Glanzmann thrombasthenia;not provided 2016-06-14 -5.7 1.5 Likely benign 0 -235261 Simple 35849100 C . Benign 2 3 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency;not provided;Hypertyrosinemia 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -235262 Simple 35579976 C . Likely benign 2 2 Hypoparathyroidism retardation dysmorphism syndrome;not provided 2016-06-14 -5.7 1.5 Likely benign 0 -235263 Simple 61746672 A . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not provided;Hypobetalipoproteinemia, familial, 1 2017-07-10 -11.7 1.0 Benign/Likely benign 0 -235264 Simple 35785620 T . Benign/Likely benign 2 3 Sphingomyelin/cholesterol lipidosis;not specified;not provided 2016-06-14 -11.7 1.3333333333333333 Benign/Likely benign 0 -235265 Simple 140451075 G . Benign/Likely benign 2 2 Rigidity and multifocal seizure syndrome, lethal neonatal;not provided 2017-08-11 -8.7 1.0 Benign/Likely benign 0 -235266 Simple 114861924 A . Benign 2 3 Congenital disorder of glycosylation type 2H;not specified;not provided 2017-06-22 -16.8 1.3333333333333333 Benign/Likely benign 1 -235269 Simple 145433186 T . Uncertain significance 2 2 Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;not specified;not provided 2016-01-27 -0.54 2.0 Uncertain significance 0 -235273 Simple 114014006 G . Benign/Likely benign 2 3 Fanconi anemia;not specified;not provided 2017-08-14 -11.7 1.0 Benign/Likely benign 0 -235274 Simple 76340296 A . Benign/Likely benign 2 3 Congenital hyperammonemia, type I;not specified;not provided 2016-06-14 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -235275 Simple 145086947 A . Uncertain significance 2 2 not provided;Combined oxidative phosphorylation deficiency 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -235276 Simple 7969410 A . Benign/Likely benign 2 2 not specified;not provided 2016-07-11 -8.7 1.5 Benign/Likely benign 0 -235283 Simple 34010645 G . Benign/Likely benign 2 2 Cystic fibrosis;not provided 2016-02-25 -8.100000000000001 2.0 Likely benign 1 -235284 Simple 200461412 T . Benign/Likely benign 2 4 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified;not provided 2017-05-24 -21.0 0.5 Benign/Likely benign 0 -235285 Simple 116892729 G . Benign/Likely benign 2 2 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235302 Simple 73998894 A . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified;not provided 2017-08-08 -11.7 1.0 Benign/Likely benign 0 -235303 Simple 113301033 C . Likely benign 2 2 not specified;not provided 2015-12-22 -5.4 2.0 Likely benign 0 -235304 Simple 57878668 G . Benign/Likely benign 2 6 Pena-Shokeir syndrome type I;not specified;not provided;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive 2017-07-10 -29.4 0.8333333333333334 Benign 1 -235312 Simple 74923032 A . Benign/Likely benign 2 2 not specified;not provided 2016-02-11 -8.100000000000001 2.0 Likely benign 1 -235314 Simple 41361752 T . Benign/Likely benign 2 2 Glanzmann thrombasthenia;not specified;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235320 Simple 73404416 T . Benign/Likely benign 2 2 not specified;not provided 2016-03-29 -8.7 1.5 Benign/Likely benign 0 -235321 Simple 11890468 C . Benign/Likely benign 2 2 not provided;Congenital ichthyosiform erythroderma 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235322 Simple 74811083 A . Benign/Likely benign 2 3 Common variable immunodeficiency 2;not provided;Common Variable Immune Deficiency, Dominant 2017-07-19 -11.7 1.0 Benign/Likely benign 0 -235324 Simple 59573011 A . Benign/Likely benign 2 3 Hepatic venoocclusive disease with immunodeficiency;not provided 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -235327 Simple 144155507 G . Uncertain significance 2 4 Laminin alpha 2-related dystrophy;not specified;not provided;Congenital Muscular Dystrophy, LAMA2-related 2017-06-27 -1.17 1.0 Uncertain significance 0 -235331 Simple 17454674 A . Benign 2 2 not provided;Spastic paraplegia 2017-05-24 -11.4 1.0 Benign/Likely benign 1 -235332 Simple 113317693 C . Benign/Likely benign 2 2 Joubert syndrome;not specified;not provided 2016-06-14 -5.7 1.5 Likely benign 1 -235333 Simple 148230131 C . Uncertain significance 2 4 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not provided 2016-06-14 -1.17 1.25 Uncertain significance 0 -235335 Simple 111980420 C . Likely benign 2 4 Hereditary pyropoikilocytosis;not provided;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -11.7 1.25 Benign/Likely benign 1 -235336 Simple 367797185 T . Pathogenic/Likely pathogenic 2 2 Renal dysplasia;not provided 2016-06-14 8.4 1.5 Pathogenic/Likely pathogenic 0 -235340 Simple 141441030 A . Uncertain significance 2 2 not specified;not provided 2016-05-11 -0.5700000000000001 1.5 Uncertain significance 0 -235342 Simple 77314072 T . Benign/Likely benign 2 3 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified;not provided 2017-08-14 -11.7 0.6666666666666666 Benign/Likely benign 0 -235356 Simple 144257411 C . Likely benign 2 2 not provided 2016-12-31 -6.0 1.0 Likely benign 0 -235359 Simple 77080672 T . Benign/Likely benign 2 2 not specified;not provided 2017-08-28 -8.4 1.0 Benign/Likely benign 0 -235366 Simple 35989076 T . Benign/Likely benign 2 2 Carnitine acylcarnitine translocase deficiency;not provided 2017-08-04 -8.7 1.0 Benign/Likely benign 0 -235376 Simple 76708142 C . Benign/Likely benign 2 2 Zellweger syndrome;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235377 Simple 150818619 T . Likely benign 2 2 not specified;not provided 2017-07-26 -6.0 0.5 Likely benign 0 -235380 Simple 61548169 A . Benign/Likely benign 2 2 not specified;not provided 2015-11-18 -8.100000000000001 2.0 Likely benign 1 -235381 Simple 16853149 C . Benign/Likely benign 2 2 not provided;Congenital ichthyosiform erythroderma 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235386 Simple 76274604 T . Benign 2 2 not specified;not provided 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -235387 Simple 2234258 T . Likely benign 2 2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;not provided 2016-06-14 -5.7 1.5 Likely benign 0 -235396 Simple 146948408 C . Benign/Likely benign 2 3 Encephalopathy, familial, with neuroserpin inclusion bodies;not provided 2017-08-11 -14.4 1.0 Benign/Likely benign 0 -235398 Simple 118109635 A . Benign/Likely benign 2 2 not specified;not provided 2016-05-04 -8.4 1.5 Benign/Likely benign 0 -235399 Simple 6262 A . Benign/Likely benign 2 2 Deficiency of aromatic-L-amino-acid decarboxylase;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235402 Simple 201553266 T . Pathogenic/Likely pathogenic 2 3 Nemaline myopathy 2;not provided 2017-08-07 13.8 1.3333333333333333 Pathogenic/Likely pathogenic 0 -235406 Simple 12575909 C . Benign/Likely benign 2 2 not specified;not provided 2016-05-24 -8.7 1.5 Benign/Likely benign 0 -235407 Simple 8177988 T . Uncertain significance 2 2 not specified;not provided 2017-10-03 -0.54 1.5 Uncertain significance 0 -235411 Simple 878853031 - . Pathogenic 2 2 not provided 2017-07-18 11.4 1.0 Pathogenic/Likely pathogenic 1 -235412 Simple 3195678 G . Benign/Likely benign 2 3 Alpha-methylacyl-CoA racemase deficiency;not specified;not provided 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -235417 Simple 143704418 T . Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-10-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -235419 Simple 113413307 C . Benign/Likely benign 2 1 not specified;not provided 2015-08-25 . 2.0 . 0 -235423 Simple 79708859 C . Benign/Likely benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified;not provided 2017-07-28 -11.4 1.3333333333333333 Benign/Likely benign 0 -235426 Simple 182359666 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not provided 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -235428 Simple 73063795 C . Benign/Likely benign 2 5 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;not provided;Ellis-van Creveld Syndrome 2017-07-28 -26.4 1.0 Benign 1 -235430 Simple 114779238 A . Benign/Likely benign 2 2 not specified;not provided;Congenital dyserythropoietic anemia 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235433 Simple 186143284 A . Benign/Likely benign 2 2 not specified;not provided 2016-04-12 -8.4 1.5 Benign/Likely benign 0 -235440 Simple 373763823 A . Uncertain significance 2 2 Zellweger syndrome;not provided 2016-06-14 -0.6 1.0 Uncertain significance 0 -235442 Simple 139649711 T . Likely benign 2 2 Speech-language disorder 1;not provided 2016-06-14 -5.7 1.5 Likely benign 0 -235444 Simple 145770770 T . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;not provided 2017-06-27 -19.8 1.0 Benign/Likely benign 0 -235445 Simple 141678367 T . Benign/Likely benign 2 3 not specified;not provided 2016-08-17 -14.100000000000001 1.6666666666666667 Benign/Likely benign 0 -235447 Simple 141237776 G . Uncertain significance 2 2 not specified;not provided 2017-01-06 -0.5700000000000001 1.5 Uncertain significance 0 -235448 Simple 16957356 T . Benign/Likely benign 2 4 Propionic acidemia;not specified;not provided 2017-04-28 -19.8 1.25 Benign/Likely benign 0 -235452 Simple 11896293 A . Benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-07-13 -22.8 1.25 Benign/Likely benign 1 -235459 Simple 73198165 T . Benign/Likely benign 2 3 not specified;not provided 2016-08-15 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -235463 Simple 11480415 AA . Benign/Likely benign 2 3 Congenital disorder of glycosylation type 1E;Congenital disorder of glycosylation;not provided 2017-08-02 -11.4 1.0 Benign/Likely benign 0 -235464 Simple 45589337 C . Benign/Likely benign 2 1 not specified;not provided 2016-04-21 . 1.0 . 0 -235468 Simple 76658745 T . Likely benign 2 2 Knobloch syndrome 1;not provided 2016-06-14 -5.7 1.5 Likely benign 0 -235470 Simple 113450177 A . Benign/Likely benign 2 2 Nephronophthisis;not specified;not provided 2017-08-02 -8.7 1.0 Benign/Likely benign 0 -235474 Simple 113765431 T . Benign/Likely benign 2 1 not specified;not provided 2015-08-25 . 2.0 . 0 -235481 Simple 147287319 A . Uncertain significance 2 2 not provided;Hyper-IgE syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -235484 Simple 745597204 A . Pathogenic 2 2 Cryptophthalmos syndrome;not provided 2015-12-10 10.2 2.5 Pathogenic/Likely pathogenic 1 -235487 Simple 377041857 T . Uncertain significance 2 2 not specified;not provided 2016-07-28 -0.6 1.0 Uncertain significance 0 -235490 Simple 141641266 T . Benign/Likely benign 2 3 Niemann-Pick disease, type B;Niemann-Pick disease, type A;not specified;not provided 2017-05-11 -15.0 0.6666666666666666 Benign/Likely benign 0 -235497 Simple 35960830 G . Likely benign 2 2 not specified;not provided 2017-04-25 -5.7 1.0 Likely benign 0 -235506 Simple 34623774 G . Likely benign 2 2 not specified;not provided 2016-06-16 -5.7 1.5 Likely benign 0 -235508 Simple 76576170 A . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided 2017-07-31 -14.4 1.0 Benign/Likely benign 0 -235510 Simple 78347057 T . Likely benign 2 3 not provided;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -235512 Simple 375628463 A . Pathogenic/Likely pathogenic 2 2 Succinate-semialdehyde dehydrogenase deficiency;not provided 2017-05-23 7.8 1.5 Likely pathogenic 1 -235524 Simple 148451013 C . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified;not provided 2017-06-09 -11.7 0.6666666666666666 Benign/Likely benign 0 -235528 Simple 368627489 T . Uncertain significance 2 2 not specified;not provided 2017-09-15 -0.5700000000000001 1.0 Uncertain significance 0 -235529 Simple 146261631 G . Benign/Likely benign 2 4 Dyskeratosis congenita autosomal recessive 1;not specified;not provided;Dyskeratosis Congenita, Recessive 2017-07-28 -14.7 1.0 Benign/Likely benign 0 -235533 Simple 192255604 T . Likely benign 2 2 not specified;not provided 2015-08-07 -5.4 2.0 Likely benign 0 -235534 Simple 35669708 A . Benign/Likely benign 2 3 Hereditary insensitivity to pain with anhidrosis;not specified;not provided 2017-07-17 -11.7 0.6666666666666666 Benign/Likely benign 0 -235535 Simple 769039987 A . Likely pathogenic 2 2 not provided 2016-09-02 6.0 1.0 Likely pathogenic 0 -235538 Simple 144486524 T . Likely benign 2 5 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-07-28 -14.4 1.0 Benign/Likely benign 1 -235540 Simple 117576908 A . Benign/Likely benign 2 2 Microcytic anemia;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235542 Simple 41317361 C . Benign/Likely benign 2 7 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;not provided;Osteogenesis Imperfecta, Dominant 2017-07-09 -31.8 1.1428571428571428 Benign 1 -235549 Simple 376038235 T . Benign 2 2 Creatine deficiency, X-linked;not provided 2017-07-05 -12.0 0.5 Benign/Likely benign 1 -235560 Simple 193074572 T . Benign/Likely benign 2 4 Glycogen storage disease, type IV;Glycogen storage disease IV, classic hepatic;not specified;not provided 2017-09-06 -19.2 1.25 Benign/Likely benign 0 -235565 Simple 142482046 C . Uncertain significance 2 2 Succinate-semialdehyde dehydrogenase deficiency;not provided 2017-05-24 -0.6 0.5 Uncertain significance 0 -235569 Simple 34523608 T . Likely benign 2 2 not provided;Spherocytosis, Dominant 2016-06-14 -5.7 1.5 Likely benign 0 -235571 Simple 61234887 T . Benign/Likely benign 2 3 Deficiency of alpha-mannosidase;not provided 2017-06-02 -14.4 1.0 Benign/Likely benign 0 -235578 Simple 149162154 G . Likely benign 2 2 Schinzel-Giedion syndrome;not provided 2016-06-14 -5.7 1.5 Likely benign 0 -235580 Simple 760554566 T . Uncertain significance 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-12-29 -0.5700000000000001 1.5 Uncertain significance 0 -235582 Simple 34642241 T . Benign/Likely benign 2 3 Chédiak-Higashi syndrome;not specified;not provided 2017-08-02 -14.4 1.0 Benign/Likely benign 0 -235583 Simple 148268937 A . Benign 2 2 Sandhoff disease;not specified;not provided 2017-08-04 -11.4 1.0 Benign/Likely benign 1 -235587 Simple 149399707 A . Uncertain significance 2 3 not specified;not provided;Congenital ichthyosiform erythroderma 2017-09-19 -0.87 1.0 Uncertain significance 0 -235588 Simple 2496424 A . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235592 Simple 139064549 C . Benign/Likely benign 2 5 Marshall syndrome;Fibrochondrogenesis;not specified;not provided;Stickler Syndrome, Dominant 2016-10-04 -17.4 1.2 Benign/Likely benign 0 -235595 Simple 58093963 G . Benign/Likely benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-07-10 -14.4 1.0 Benign/Likely benign 0 -235601 Simple 202181338 AA . Benign 2 2 Non-ketotic hyperglycinemia;not provided 2017-05-10 -11.4 1.0 Benign/Likely benign 1 -235609 Simple 367600498 - . Benign/Likely benign 2 1 not specified;not provided 2015-04-20 . 2.0 . 0 -235610 Simple 140821420 T . Uncertain significance 2 2 Bardet-Biedl syndrome;not provided 2016-06-14 -0.6 1.0 Uncertain significance 0 -235611 Simple 141025803 C . Uncertain significance 2 2 Joubert syndrome;not provided 2016-06-14 -0.6 1.0 Uncertain significance 0 -235618 Simple 146462599 A . Uncertain significance 2 4 Laminin alpha 2-related dystrophy;not specified;not provided;Congenital Muscular Dystrophy, LAMA2-related 2017-06-28 -1.17 0.75 Uncertain significance 0 -235620 Simple 74034910 A . Benign 2 2 not specified;not provided 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -235621 Simple 75145370 G . Benign/Likely benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-07-10 -14.4 1.0 Benign/Likely benign 0 -235630 Simple 149482918 A . Benign/Likely benign 2 3 Succinate-semialdehyde dehydrogenase deficiency;not provided 2017-08-01 -14.4 1.0 Benign/Likely benign 0 -235632 Simple 2471829 C . Benign 2 2 not specified;not provided 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -235635 Simple 201404906 - . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235636 Simple 151332923 A . Uncertain significance 2 2 not specified;not provided 2016-08-16 -0.5700000000000001 1.5 Uncertain significance 0 -235639 Simple 78353028 A . Likely benign 2 2 von Willebrand disorder;not provided 2016-06-14 -5.7 1.5 Likely benign 0 -235640 Simple 75366116 A . Benign/Likely benign 2 3 Hemophagocytic lymphohistiocytosis, familial, 3;Familial hemophagocytic lymphohistiocytosis;not specified;not provided 2017-07-05 -14.4 1.0 Benign/Likely benign 0 -235642 Simple 4253047 T . Benign/Likely benign 2 4 Cockayne syndrome;not specified;not provided;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -11.7 1.25 Benign/Likely benign 0 -235649 Simple 77696190 T . Benign/Likely benign 2 2 Gamma-aminobutyric acid transaminase deficiency;not provided 2017-05-02 -9.0 0.5 Benign/Likely benign 0 -235651 Simple 7023652 C . Benign/Likely benign 2 5 Congenital disorder of glycosylation type 1I;Congenital disorder of glycosylation;not specified;not provided;Myasthenic syndrome, congenital, 14 2017-08-02 -22.5 1.4 Benign/Likely benign 0 -235657 Simple 73507527 A . Benign/Likely benign 2 2 not specified;not provided 2016-04-25 -8.4 1.5 Benign/Likely benign 0 -235659 Simple 141373204 G . Uncertain significance 2 3 not specified;not provided 2017-08-23 -0.87 1.0 Uncertain significance 0 -235663 Simple 28643388 C . Benign 2 2 not specified;not provided;Townes syndrome 2016-08-08 -10.8 2.0 Benign/Likely benign 1 -235664 Simple 142285781 A . Uncertain significance 2 2 not specified;not provided 2016-11-07 -0.5700000000000001 1.5 Uncertain significance 0 -235667 Simple 878853090 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2C;not provided 2017-05-15 -0.6 0.5 Uncertain significance 0 -235668 Simple 143090133 AA . Likely benign 2 2 not provided;Acrodysostosis 2016-06-14 -5.7 1.5 Likely benign 0 -235683 Simple 139337049 A . Uncertain significance 2 5 Martsolf syndrome;Warburg micro syndrome 2;not specified;Warburg micro syndrome;not provided 2016-08-24 -1.44 1.4 Uncertain significance 0 -235684 Simple 78829338 G . Benign 2 2 Porencephaly;not provided 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -235691 Simple 151330612 A . Uncertain significance 2 2 not specified;not provided 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -235694 Simple 11910214 T . Benign/Likely benign 2 2 Polyglandular autoimmune syndrome, type 1;not provided 2017-06-28 -8.4 1.5 Benign/Likely benign 0 -235703 Simple 142396178 A . Uncertain significance 2 2 not specified;not provided 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -235710 Simple 57633676 A . Benign/Likely benign 2 2 Idiopathic generalized epilepsy;not provided;Hyperaldosteronism, familial, type IV 2017-05-23 -8.7 1.0 Benign/Likely benign 0 -235712 Simple 138411530 A . Benign/Likely benign 2 4 X-linked agammaglobulinemia;not specified;not provided;Isolated Growth Hormone Deficiency 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -235713 Simple 62618730 G . Benign/Likely benign 2 4 Schwartz Jampel syndrome type 1;not specified;not provided;Dyssegmental Dysplasia 2016-06-14 -16.8 1.5 Benign/Likely benign 0 -235730 Simple 3092886 G . Benign/Likely benign 2 1 not specified;not provided 2015-08-19 . 2.0 . 0 -235742 Simple 7996253 T . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not provided 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235754 Simple 878853107 G . Uncertain significance 2 2 not specified;not provided 2017-03-01 -0.6 1.0 Uncertain significance 0 -235755 Simple 61737294 A . Benign/Likely benign 2 2 Sanfilippo syndrome;not provided;Mucopolysaccharidosis Type III 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235756 Simple 116690692 C . Benign/Likely benign 2 2 not specified;not provided 2015-12-23 -8.100000000000001 2.0 Likely benign 1 -235757 Simple 35030041 C . Likely benign 2 2 Cryptophthalmos syndrome;not provided 2016-06-14 -5.7 1.5 Likely benign 0 -235758 Simple 75469429 T . Benign/Likely benign 2 2 not provided;Spastic paraplegia 2017-06-26 -8.7 1.0 Benign/Likely benign 0 -235760 Simple 28897763 A . Benign/Likely benign 2 4 Seckel syndrome;not specified;not provided 2016-07-05 -17.1 1.5 Benign/Likely benign 0 -235771 Simple 11891778 C . Benign/Likely benign 2 2 not provided;Congenital ichthyosiform erythroderma 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -235778 Simple 878853112 . . Likely pathogenic 2 2 not provided;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 5.4 1.5 Likely pathogenic 0 -235779 Simple 878853113 G . Pathogenic/Likely pathogenic 2 2 not provided 2016-06-13 8.7 1.5 Pathogenic/Likely pathogenic 0 -235784 Simple 143873873 T . Benign 2 2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1;not provided 2017-05-08 -11.4 1.0 Benign/Likely benign 1 -235805 Simple 773209126 T . Pathogenic 2 3 Laminin alpha 2-related dystrophy;not provided 2017-08-25 16.8 1.3333333333333333 Pathogenic 0 -235806 Simple 2229420 T . Benign/Likely benign 2 4 Mitochondrial trifunctional protein deficiency;Trifunctional protein deficiency with myopathy and neuropathy;Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided;LCHAD Deficiency 2017-04-03 -18.0 0.75 Benign/Likely benign 0 -235813 Simple 115183769 T . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified;not provided 2016-10-30 -14.4 1.3333333333333333 Benign/Likely benign 0 -235814 Simple 202112856 T . Uncertain significance 2 3 not specified;not provided 2016-06-13 -0.87 1.3333333333333333 Uncertain significance 0 -235839 Simple 587777077 - . Pathogenic 2 2 Oculomelic amyoplasia;Distal arthrogryposis;not provided 2017-03-28 10.8 1.5 Pathogenic/Likely pathogenic 1 -235887 Simple 878853160 G . Pathogenic 2 2 not provided;Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2018-02-02 12.0 0.5 Pathogenic/Likely pathogenic 1 -235890 Simple 371334506 G . Pathogenic/Likely pathogenic 2 2 not provided;Charcot-Marie-Tooth disease, axonal type 2X 2016-06-09 9.0 1.0 Pathogenic/Likely pathogenic 0 -235900 Simple 782010359 T . Uncertain significance 2 2 Mental retardation 3, X-linked;not specified 2017-05-19 -0.6 0.5 Uncertain significance 0 -236014 Simple 777870079 A . Likely pathogenic 2 4 Maturity-onset diabetes of the young, type 2;not provided 2017-07-17 12.0 0.75 Pathogenic/Likely pathogenic 1 -236076 Simple 886044723 C . Uncertain significance 2 2 Stargardt disease 1;not provided 2017-02-28 -0.5700000000000001 1.5 Uncertain significance 0 -236078 Simple 61752390 T . Pathogenic 2 2 Stargardt disease 1;not provided 2016-08-08 11.4 1.5 Pathogenic/Likely pathogenic 1 -236084 Simple 143263315 C . Uncertain significance 2 5 Stargardt disease 1;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -1.47 1.2 Uncertain significance 0 -236093 Simple 746566873 A . Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-01-01 5.4 2.0 Likely pathogenic 0 -236096 Simple 201471607 C . Pathogenic 2 2 Stargardt disease 1;not provided 2016-01-05 10.8 2.0 Pathogenic/Likely pathogenic 1 -236100 Simple 756840095 A . Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-02-23 5.4 2.0 Likely pathogenic 0 -236118 Simple 138475920 T . Uncertain significance 2 2 Stargardt disease 1;not specified 2016-09-01 -0.5700000000000001 1.5 Uncertain significance 0 -236122 Simple 759672616 C . Pathogenic 2 2 Stargardt disease 1;not provided 2016-01-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -236129 Simple 760549861 A . Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-01-05 5.4 2.0 Likely pathogenic 0 -236144 Simple 886044758 G . Likely pathogenic 2 2 Stargardt disease 1;not provided 2016-01-01 4.800000000000001 3.0 Likely pathogenic 0 -236162 Simple 145077205 A . Benign/Likely benign, drug response 2 1 Focal segmental glomerulosclerosis;not specified;Prednisolone response 2016-06-14 . 1.0 . 0 -236226 Simple 878853271 T . Pathogenic 2 1 You-Hoover-Fong syndrome 2017-06-08 . 0.0 . 0 -236229 Simple 754162070 A . Pathogenic/Likely pathogenic 2 1 not provided;You-Hoover-Fong syndrome 2016-12-09 . 1.0 . 0 -236258 Simple 878853263 T . Pathogenic 2 2 N-terminal acetyltransferase deficiency;not provided 2016-11-03 12.0 1.0 Pathogenic/Likely pathogenic 1 -236261 Simple 397509173 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-03 12.0 1.5 Pathogenic/Likely pathogenic 1 -236262 Simple 878853285 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-03 12.0 1.5 Pathogenic/Likely pathogenic 1 -236263 Simple 878853286 ATGTTG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-04-03 . 1.0 . 0 -236264 Simple 878853287 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-15 12.0 1.5 Pathogenic/Likely pathogenic 1 -236265 Haplotype 80358033 G ['80358033|G', '55680408|C'] Benign 3 1 Breast-ovarian cancer, familial 1 2016-04-15 . 1.0 . 0 -236265 Haplotype 55680408 C ['80358033|G', '55680408|C'] Benign 3 1 Breast-ovarian cancer, familial 1 2016-04-15 . 1.0 . 0 -236266 Simple 878853288 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236267 Simple 878853289 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-04-22 . 1.0 . 0 -236268 Simple 878853290 GC . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236269 Simple 878853291 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236270 Simple 878853292 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-04-22 . 1.0 . 0 -236271 Simple 878853293 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236272 Simple 878853294 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236273 Simple 878853295 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-04-22 . 1.0 . 0 -236274 Simple 878853296 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236275 Simple 80357642 AAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236276 Simple 878853297 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-04-22 . 1.0 . 0 -236277 Simple 878853298 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236278 Simple 878853299 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-04-22 . 1.0 . 0 -236279 Simple 80359499 CTCT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-04-22 . 1.0 . 0 -236280 Simple 878853300 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236281 Simple 878853301 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236282 Simple 878853302 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236283 Simple 878853303 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236284 Simple 878853304 C . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-04-22 12.0 1.5 Pathogenic/Likely pathogenic 1 -236301 Simple 782482746 C . Likely benign 2 2 Rett syndrome;not specified 2016-11-30 -5.7 1.5 Likely benign 0 -236450 Simple 147010346 A . Uncertain significance 2 2 not specified;Retinal dystrophy;Retinitis Pigmentosa, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -236552 Simple 387906391 - . Pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;not specified 2016-08-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -236554 Simple 373652667 A . Benign 2 2 Adenylosuccinate lyase deficiency;not specified 2016-03-19 -11.4 1.5 Benign/Likely benign 1 -236556 Simple 3797704 C . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-13 -6.0 1.0 Likely benign 0 -236557 Simple 878853416 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-05-26 -0.6 0.5 Uncertain significance 0 -236559 Simple 878853417 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;APC-Associated Polyposis Disorders 2017-04-03 -0.6 0.5 Uncertain significance 0 -236560 Simple 372047677 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-13 -0.6 0.0 Uncertain significance 0 -236562 Simple 878853418 G . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-03-29 -6.0 0.5 Likely benign 0 -236563 Simple 761458613 A . Likely pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2017-02-13 5.7 1.5 Likely pathogenic 0 -236567 Simple 745529713 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -236568 Simple 878853422 - . Pathogenic 2 2 Familial adenomatous polyposis 1;Familial adenomatous polyposis 2016-01-01 9.0 3.5 Pathogenic/Likely pathogenic 1 -236569 Simple 769363082 T . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -8.7 1.0 Benign/Likely benign 1 -236576 Simple 751433216 T . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -12.0 1.0 Benign/Likely benign 1 -236578 Simple 878853430 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -1.2 0.5 Uncertain significance 0 -236583 Simple 776560257 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-27 -0.8999999999999999 0.0 Uncertain significance 0 -236585 Simple 878853435 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2016-12-04 -0.6 1.0 Uncertain significance 0 -236589 Simple 121913331 T . Pathogenic/Likely pathogenic 2 3 Adenocarcinoma of lung;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Colorectal Neoplasms;Familial adenomatous polyposis 2017-06-13 17.4 1.0 Pathogenic 1 -236590 Simple 878853438 T . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2016-11-22 16.8 1.6666666666666667 Pathogenic 0 -236591 Simple 878853439 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-06-27 -0.5700000000000001 1.5 Uncertain significance 0 -236592 Simple 878853440 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -11.7 1.0 Benign/Likely benign 1 -236593 Simple 759407858 T . Likely benign 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-14 -11.7 0.75 Benign/Likely benign 1 -236594 Simple 878853441 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-09-18 -0.87 1.3333333333333333 Uncertain significance 0 -236597 Simple 761966904 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -236599 Simple 878853445 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-04-21 -0.5700000000000001 1.5 Uncertain significance 0 -236601 Simple 150089434 T . Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -14.4 1.2 Benign/Likely benign 1 -236607 Simple 878853451 AA . Pathogenic/Likely pathogenic 2 3 Familial adenomatous polyposis 1;not provided 2017-03-15 13.5 1.6666666666666667 Pathogenic/Likely pathogenic 0 -236609 Simple 749782426 C . Uncertain significance 2 2 Familial adenomatous polyposis 1 2016-10-31 -0.6 1.0 Uncertain significance 0 -236610 Simple 759441332 G . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-28 -1.5 0.6 Uncertain significance 0 -236614 Simple 878853455 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-17 -0.5700000000000001 1.5 Uncertain significance 0 -236615 Simple 758815860 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -1.2 0.25 Uncertain significance 0 -236617 Simple 752038930 C . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-28 -1.5 0.6 Uncertain significance 0 -236618 Simple 563219702 C . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-02 -8.7 1.0 Benign/Likely benign 1 -236626 Simple 774815653 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-24 -0.6 0.5 Uncertain significance 0 -236628 Simple 878853461 G . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-05-08 -5.7 1.0 Likely benign 0 -236629 Simple 878853462 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-09 -0.87 1.0 Uncertain significance 0 -236631 Simple 772027192 A . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -11.7 0.75 Benign/Likely benign 1 -236632 Simple 752654519 T . Likely pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2017-05-30 6.0 0.5 Likely pathogenic 0 -236633 Simple 878853464 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-15 -9.0 0.6666666666666666 Benign/Likely benign 1 -236634 Simple 763707129 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -236636 Simple 878853466 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2016-03-17 -0.5700000000000001 1.5 Uncertain significance 0 -236640 Simple 140079759 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.0 Uncertain significance 0 -236643 Simple 766473931 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2016-05-24 -0.6 1.0 Uncertain significance 0 -236644 Simple 369906346 C . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -14.100000000000001 1.25 Benign/Likely benign 0 -236645 Simple 147757080 A . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-28 -12.0 0.75 Benign/Likely benign 1 -236646 Simple 878853470 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -6.0 0.5 Likely benign 0 -236647 Simple 772806807 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-12-01 -0.6 0.0 Uncertain significance 0 -236648 Simple 530670052 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-21 -0.5700000000000001 1.5 Uncertain significance 0 -236649 Simple 747339588 A . Uncertain significance 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -1.47 1.0 Uncertain significance 0 -236655 Simple 878853475 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-22 -0.6 1.0 Uncertain significance 0 -236659 Simple 878853479 T . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-27 -5.7 1.5 Likely benign 0 -236664 Simple 546927781 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-17 -8.4 1.6666666666666667 Benign/Likely benign 1 -236665 Simple 375049090 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-19 -0.6 1.0 Uncertain significance 0 -236668 Simple 777755997 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 -0.5700000000000001 1.5 Uncertain significance 0 -236670 Simple 779035681 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-25 -0.5700000000000001 1.5 Uncertain significance 0 -236676 Simple 878853486 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-23 -0.5700000000000001 1.0 Uncertain significance 0 -236677 Simple 878853487 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2016-10-06 -6.0 1.0 Likely benign 0 -236678 Simple 878853488 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-19 -0.6 0.5 Uncertain significance 0 -236680 Simple 761491947 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-17 -0.6 0.5 Uncertain significance 0 -236681 Simple 878853490 - . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -236683 Simple 878853491 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-17 -8.7 1.0 Benign/Likely benign 1 -236687 Simple 878853493 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-01 -0.6 0.5 Uncertain significance 0 -236688 Simple 878853494 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-11 -6.0 1.0 Likely benign 0 -236691 Simple 768850329 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -9.0 0.6666666666666666 Benign/Likely benign 1 -236692 Simple 761251711 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -236694 Simple 878853497 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-03-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -236695 Simple 765848319 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-03-08 -5.7 1.5 Likely benign 0 -236696 Simple 878853498 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-13 -0.87 1.3333333333333333 Uncertain significance 0 -236701 Simple 762810180 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-03 -0.5700000000000001 1.5 Uncertain significance 0 -236704 Simple 878853504 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-18 -8.4 1.3333333333333333 Benign/Likely benign 1 -236706 Simple 56006345 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -8.7 1.0 Benign/Likely benign 1 -236708 Simple 142766756 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-13 -6.0 1.0 Likely benign 0 -236715 Simple 751169467 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -0.87 1.0 Uncertain significance 0 -236716 Simple 730881369 T . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 16.8 1.3333333333333333 Pathogenic 0 -236717 Simple 878853509 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -8.7 0.6666666666666666 Benign/Likely benign 1 -236721 Simple 762132832 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-04-23 -0.6 1.0 Uncertain significance 0 -236723 Simple 777812804 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -236724 Simple 761197886 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.5 Uncertain significance 0 -236726 Simple 878853514 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-02-09 -5.4 2.0 Likely benign 0 -236730 Simple 747800057 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-26 -0.8999999999999999 1.0 Uncertain significance 0 -236734 Simple 748900588 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.2 0.25 Uncertain significance 0 -236735 Simple 777478613 - . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-06-20 -0.6 0.5 Uncertain significance 0 -236740 Simple 878853524 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2016-01-01 -5.4 2.0 Likely benign 0 -236743 Simple 781448339 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-07-28 -0.6 1.0 Uncertain significance 0 -236747 Simple 878853527 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2015-12-07 -5.4 2.0 Likely benign 0 -236751 Simple 747053710 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-24 -0.6 0.5 Uncertain significance 0 -236754 Simple 878853532 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-26 -1.17 1.25 Uncertain significance 0 -236760 Simple 878853535 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-05-25 12.0 0.0 Pathogenic/Likely pathogenic 1 -236765 Simple 750569023 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-06 -12.0 0.5 Benign/Likely benign 1 -236767 Simple 373662499 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-17 -6.0 0.5 Likely benign 0 -236768 Simple 370567994 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-30 -1.2 0.0 Uncertain significance 0 -236770 Simple 878853542 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -12.0 0.5 Benign/Likely benign 1 -236771 Simple 878853543 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-01-23 -0.54 2.0 Uncertain significance 0 -236774 Simple 773944604 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-01-16 -0.54 2.0 Uncertain significance 0 -236775 Simple 200441272 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -236777 Simple 878853545 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-02 -0.87 1.0 Uncertain significance 0 -236778 Simple 878853546 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 -0.5700000000000001 1.5 Uncertain significance 0 -236780 Simple 369846067 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-16 -0.87 0.6666666666666666 Uncertain significance 0 -236784 Simple 770138283 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-05 -9.0 1.0 Benign/Likely benign 1 -236789 Simple 373321041 C . Benign/Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-16 -11.4 1.0 Benign/Likely benign 0 -236790 Simple 878853550 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-10-03 -5.7 1.0 Likely benign 0 -236794 Simple 878853552 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-09 -5.7 1.5 Likely benign 0 -236798 Simple 776938735 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-30 -0.5700000000000001 1.0 Uncertain significance 0 -236800 Simple 202103556 T . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -6.0 0.5 Likely benign 0 -236810 Simple 145022945 G . Benign/Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-08-18 -9.0 0.0 Benign/Likely benign 0 -236814 Simple 750954124 G . Uncertain significance 2 2 Bloom syndrome;not specified 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -236818 Simple 140524886 A . Benign/Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -236820 Simple 376734461 C . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -6.0 0.5 Likely benign 0 -236822 Simple 780472557 G . Uncertain significance 2 2 Bloom syndrome 2017-01-20 -0.6 1.0 Uncertain significance 0 -236824 Simple 878853555 A . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -236829 Simple 760815829 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -236832 Simple 80358464 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -236834 Simple 878853558 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.5700000000000001 1.0 Uncertain significance 0 -236835 Simple 878853559 T . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-10-18 36.0 1.0 Pathogenic 0 -236840 Simple 80358504 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -236841 Simple 770778164 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -236842 Simple 760792501 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-01-27 -0.54 2.0 Uncertain significance 0 -236844 Simple 55972907 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-03-29 -0.6 0.5 Uncertain significance 0 -236845 Simple 878853565 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2015-11-14 -0.54 2.0 Uncertain significance 0 -236847 Simple 587782072 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-01-25 -0.54 2.0 Uncertain significance 0 -236848 Simple 878853566 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -236850 Simple 878853568 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -236851 Simple 878853569 GAGA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.5 Pathogenic 0 -236854 Simple 878853572 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -236856 Simple 878853574 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -236858 Simple 878853576 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -236859 Simple 80358644 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-09 -0.6 1.0 Uncertain significance 0 -236860 Simple 878853577 CATC . Pathogenic 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2017-06-16 23.4 0.75 Pathogenic 0 -236864 Simple 878853580 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.6666666666666666 Benign/Likely benign 1 -236866 Simple 878853582 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -236870 Simple 80358698 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-28 -0.5700000000000001 1.5 Uncertain significance 0 -236872 Simple 431825322 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -236875 Simple 750805758 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.0 Benign/Likely benign 1 -236877 Simple 878853588 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-03 -0.5700000000000001 1.5 Uncertain significance 0 -236878 Simple 763052573 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -236880 Simple 878853589 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -236884 Simple 878853592 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -236885 Simple 767378196 C . Uncertain significance 1 1 Hereditary breast and ovarian cancer syndrome 2016-01-08 . 2.0 . 0 -236889 Simple 864622516 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -236892 Simple 149330893 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -236897 Simple 878853599 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -236898 Simple 878853600 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-08-31 -0.5700000000000001 1.5 Uncertain significance 0 -236900 Simple 878853601 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -236909 Simple 878853606 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -236910 Simple 750013303 A . Likely benign 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-13 -8.7 1.3333333333333333 Benign/Likely benign 1 -236911 Simple 863224468 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -236915 Simple 757501907 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-27 -0.5700000000000001 1.5 Uncertain significance 0 -236916 Simple 746260964 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -236921 Simple 878853612 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -236923 Simple 878853614 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-05-10 -0.5700000000000001 1.5 Uncertain significance 0 -236924 Simple 878853615 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-03 -5.4 2.0 Likely benign 0 -236926 Simple 878853617 A . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-12-05 -6.0 1.0 Likely benign 0 -236930 Simple 80359202 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -236944 Simple 878853623 G . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-08-08 -5.7 1.5 Likely benign 0 -236945 Simple 373619077 G . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-05-25 -0.5700000000000001 1.0 Uncertain significance 0 -236948 Simple 188494894 T . Benign/Likely benign 2 2 Beckwith-Wiedemann syndrome;not provided 2017-02-27 -9.0 1.0 Benign/Likely benign 0 -236949 Simple 149717696 A . Benign 2 1 Beckwith-Wiedemann syndrome;not specified 2017-07-06 . 0.0 . 0 -236960 Simple 878853634 - . Benign/Likely benign 2 2 Beckwith-Wiedemann syndrome;not specified 2017-08-09 -9.0 0.5 Benign/Likely benign 0 -236964 Simple 529326848 C . Benign 2 3 Beckwith-Wiedemann syndrome;not specified 2017-08-08 -17.4 1.0 Benign/Likely benign 1 -236965 Simple 759134767 - . Benign 2 2 Beckwith-Wiedemann syndrome;not specified 2017-08-10 -11.4 1.0 Benign/Likely benign 1 -236968 Simple 786205241 GGGGCCGGGGCC . Likely benign 2 2 Beckwith-Wiedemann syndrome;not specified 2017-07-10 -6.0 0.5 Likely benign 0 -236981 Simple 771138120 T . Uncertain significance 2 3 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-23 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -236983 Simple 878853646 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-08-08 -0.5700000000000001 1.0 Uncertain significance 0 -236985 Simple 145445140 T . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-30 -0.87 0.6666666666666666 Uncertain significance 0 -236989 Simple 878853649 A . Likely benign 2 3 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-02-24 -8.7 1.3333333333333333 Benign/Likely benign 1 -236990 Simple 778871932 A . Likely benign 2 3 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-05-31 -8.1 2.0 Likely benign 0 -236992 Simple 878853650 G . Likely pathogenic 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-02-26 5.4 2.0 Likely pathogenic 0 -236996 Simple 141093527 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-01-15 -6.0 1.0 Likely benign 0 -236998 Simple 373383768 A . Likely benign 2 1 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2016-02-11 . 2.0 . 0 -237000 Simple 146461106 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-01-09 -9.0 1.0 Benign/Likely benign 0 -237008 Simple 144844792 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-25 -20.4 0.75 Benign/Likely benign 0 -237016 Simple 41522944 A . Benign/Likely benign 2 5 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2017-06-23 -23.4 1.0 Benign/Likely benign 0 -237017 Simple 373308042 T . Likely benign 2 1 Osler hemorrhagic telangiectasia syndrome;not specified 2016-03-10 . 1.0 . 0 -237021 Simple 148475405 A . Benign/Likely benign 2 3 Osler hemorrhagic telangiectasia syndrome;Juvenile Polyposis 2017-04-03 -12.0 0.6666666666666666 Benign/Likely benign 0 -237024 Simple 201768056 T . Uncertain significance 2 2 Osler hemorrhagic telangiectasia syndrome;not specified 2016-11-15 -0.5700000000000001 1.5 Uncertain significance 0 -237026 Simple 370257876 A . Benign/Likely benign 2 2 Osler hemorrhagic telangiectasia syndrome;not specified 2016-04-25 -8.4 1.5 Benign/Likely benign 0 -237027 Simple 878853657 G . Pathogenic 2 3 Osler hemorrhagic telangiectasia syndrome;not specified;not provided 2017-08-31 17.4 1.0 Pathogenic 0 -237030 Simple 878853659 T . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not provided 2018-01-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -237033 Simple 17232091 G . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-07-20 -15.0 0.6666666666666666 Benign/Likely benign 0 -237034 Simple 149551759 A . Uncertain significance 2 2 Fanconi anemia 2016-09-30 -0.6 1.0 Uncertain significance 0 -237036 Simple 61757383 G . Uncertain significance 2 2 Fanconi anemia 2017-05-29 -0.6 0.5 Uncertain significance 0 -237037 Simple 1800338 C . Benign/Likely benign 2 1 Fanconi anemia;not specified 2017-05-25 . 0.0 . 0 -237038 Simple 17232973 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -237048 Simple 574034197 C . Pathogenic 2 2 Fanconi anemia;not provided 2017-07-15 12.0 0.0 Pathogenic/Likely pathogenic 1 -237068 Simple 753820400 A . Likely benign 2 2 Fanconi anemia;not specified 2017-10-17 -6.0 0.0 Likely benign 0 -237069 Simple 878853671 CC . Pathogenic 2 2 Fanconi anemia;not provided 2015-11-28 10.8 2.0 Pathogenic/Likely pathogenic 1 -237071 Simple 755657969 - . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-03-01 -8.4 1.5 Benign/Likely benign 0 -237073 Simple 749994612 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-05-22 -8.4 1.0 Benign/Likely benign 0 -237078 Simple 781108327 AA . Likely benign 2 2 Fanconi anemia;not specified 2016-02-13 -5.4 2.0 Likely benign 0 -237080 Simple 202030761 C . Benign/Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-02-08 -8.100000000000001 2.0 Likely benign 1 -237089 Simple 779913610 A . Likely benign 2 10 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2016-07-01 -29.7 1.1 Benign 2 -237105 Simple 113721547 G . Benign/Likely benign 2 11 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-07-05 -35.7 1.0 Benign 1 -237109 Simple 779985493 GAGTGAGAGTGA . Likely benign 2 5 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Multiple Cutaneous and Uterine Leiomyomas 2017-07-03 -15.0 0.6 Benign/Likely benign 1 -237110 Simple 201115573 T . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-08-04 -0.6 0.5 Uncertain significance 0 -237112 Simple 878853691 G . Pathogenic 2 2 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer 2017-01-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -237118 Simple 201971572 G . Benign/Likely benign 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Multiple Cutaneous and Uterine Leiomyomas 2017-07-31 -15.0 0.75 Benign/Likely benign 0 -237122 Simple 878853697 G . Pathogenic/Likely pathogenic 2 2 Charcot-Marie-Tooth Neuropathy X;not provided 2017-06-26 9.0 0.5 Pathogenic/Likely pathogenic 0 -237126 Simple 878853699 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.5 Uncertain significance 0 -237129 Simple 756673077 A . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-28 -8.4 1.6666666666666667 Benign/Likely benign 1 -237133 Simple 878853702 - . Pathogenic 2 3 Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-10 18.0 0.3333333333333333 Pathogenic 0 -237137 Simple 878853705 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-23 -5.7 1.0 Likely benign 0 -237143 Simple 762089407 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-26 -6.0 1.0 Likely benign 0 -237144 Simple 756043669 C . Uncertain significance 2 2 Lynch syndrome;not specified 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -237149 Simple 878853712 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-14 -0.6 1.0 Uncertain significance 0 -237151 Simple 751867550 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -237152 Simple 878853714 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-05 -0.5700000000000001 1.0 Uncertain significance 0 -237153 Simple 869312798 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-31 -0.6 0.5 Uncertain significance 0 -237154 Simple 878853715 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-28 -0.5700000000000001 1.5 Uncertain significance 0 -237155 Simple 63750725 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-27 -0.6 0.5 Uncertain significance 0 -237156 Simple 754870044 T . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-22 -11.7 1.25 Benign/Likely benign 1 -237157 Simple 377411318 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-21 -0.6 1.0 Uncertain significance 0 -237161 Simple 368437140 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-11 -0.5700000000000001 1.0 Uncertain significance 0 -237163 Simple 771575217 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-22 -0.5700000000000001 1.0 Uncertain significance 0 -237166 Simple 878853721 - . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-29 11.4 1.5 Pathogenic/Likely pathogenic 1 -237167 Simple 878853722 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-11-24 -5.4 2.0 Likely benign 0 -237168 Simple 878853723 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-12 -0.6 0.5 Uncertain significance 0 -237169 Simple 878853724 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-31 -0.5700000000000001 1.5 Uncertain significance 0 -237171 Simple 587781372 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-17 -0.87 1.3333333333333333 Uncertain significance 0 -237172 Simple 61753795 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-21 -1.2 0.25 Uncertain significance 0 -237175 Simple 370505117 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -237183 Simple 878853732 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-08 -0.5700000000000001 1.0 Uncertain significance 0 -237185 Simple 730881804 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -0.87 0.6666666666666666 Uncertain significance 0 -237186 Simple 756108143 G . Uncertain significance 2 2 Lynch syndrome;not specified 2016-08-03 -0.5700000000000001 1.5 Uncertain significance 0 -237188 Simple 773245315 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-15 -0.87 1.0 Uncertain significance 0 -237189 Simple 747771350 A . Likely benign 2 4 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -11.1 1.5 Benign/Likely benign 1 -237197 Simple 878853738 TT . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-03-06 -0.81 2.0 Uncertain significance 0 -237198 Simple 63750554 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-16 -1.2 0.75 Uncertain significance 0 -237205 Simple 878853744 AAGGG . Uncertain significance 2 2 Lynch syndrome;not specified 2017-08-22 -0.5700000000000001 1.0 Uncertain significance 0 -237207 Simple 878853746 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 -9.0 0.6666666666666666 Benign/Likely benign 1 -237208 Simple 758390144 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-15 -5.7 1.5 Likely benign 0 -237209 Simple 878853747 G . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-05-17 -5.7 1.0 Likely benign 0 -237211 Simple 878853749 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-29 -5.7 1.5 Likely benign 0 -237212 Simple 767991179 T . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-04-28 -5.7 1.0 Likely benign 0 -237215 Simple 769610487 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -0.8999999999999999 0.0 Uncertain significance 0 -237216 Simple 375210430 C . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-07-26 -8.7 1.0 Benign/Likely benign 1 -237219 Simple 878853751 C . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -237238 Simple 878853760 A . Uncertain significance 2 4 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism 2016-06-14 -1.17 1.25 Uncertain significance 0 -237252 Simple 144933028 G . Uncertain significance 2 5 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism;not specified 2017-07-24 -1.5 0.8 Uncertain significance 0 -237265 Simple 201872586 T . Likely benign 2 2 Gastrointestinal stromal tumor;not specified 2017-07-24 -6.0 0.5 Likely benign 0 -237289 Simple 9770044 T . Benign/Likely benign 2 3 Long QT syndrome 2;Long QT syndrome 2017-08-15 -14.4 1.0 Benign/Likely benign 0 -237292 Simple 75648145 A . Benign/Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-04-27 -8.7 1.0 Benign/Likely benign 0 -237311 Simple 878853776 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -9.0 0.3333333333333333 Benign/Likely benign 1 -237314 Simple 878853778 TT . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-01-09 10.8 2.0 Pathogenic/Likely pathogenic 1 -237316 Simple 63750271 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -0.6 0.0 Uncertain significance 0 -237317 Simple 878853780 C . Pathogenic/Likely pathogenic 2 2 Lynch syndrome 2015-12-28 6.300000000000001 3.5 Likely pathogenic 1 -237321 Simple 878853783 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-04 -0.54 2.0 Uncertain significance 0 -237322 Simple 63750876 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -237324 Simple 35045067 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-22 -0.5700000000000001 1.5 Uncertain significance 0 -237327 Simple 117221851 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-19 -8.7 0.6666666666666666 Benign/Likely benign 1 -237329 Simple 878853785 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-24 12.0 0.0 Pathogenic/Likely pathogenic 1 -237335 Simple 878853788 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -237337 Simple 63750297 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-23 -5.7 1.5 Likely benign 0 -237345 Simple 587779038 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-14 -9.0 1.0 Benign/Likely benign 1 -237350 Simple 762836160 T . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-04-28 -6.0 0.5 Likely benign 0 -237351 Simple 779581111 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -0.8999999999999999 0.0 Uncertain significance 0 -237354 Simple 878853796 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-20 -0.5700000000000001 1.0 Uncertain significance 0 -237356 Simple 370807334 G . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-09-15 -6.0 0.0 Likely benign 0 -237357 Simple 878853797 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-11 -1.2 0.25 Uncertain significance 0 -237358 Simple 776174711 G . Uncertain significance 2 2 Lynch syndrome;not specified 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -237359 Simple 878853798 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-07 -0.6 0.5 Uncertain significance 0 -237361 Simple 878853799 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -237365 Simple 768070717 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -0.6 0.0 Uncertain significance 0 -237367 Simple 575905950 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -237370 Simple 770550720 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-28 -0.5700000000000001 1.0 Uncertain significance 0 -237371 Simple 878853803 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-14 -0.5700000000000001 1.5 Uncertain significance 0 -237376 Simple 369385048 A . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-14 -1.17 1.25 Uncertain significance 0 -237377 Simple 41295290 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -237378 Simple 775484022 C . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-21 -8.7 0.6666666666666666 Benign/Likely benign 1 -237389 Simple 772779997 A . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-12 -1.2 0.5 Uncertain significance 0 -237393 Simple 199747712 A . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -1.17 0.75 Uncertain significance 0 -237394 Simple 587779969 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-28 -1.1099999999999999 1.25 Uncertain significance 0 -237399 Simple 878853819 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -237404 Simple 779051492 G . Uncertain significance 2 2 Lynch syndrome;not specified 2016-03-07 -0.5700000000000001 1.5 Uncertain significance 0 -237405 Simple 370906735 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -237406 Simple 763184168 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-05 -0.6 0.5 Uncertain significance 0 -237408 Simple 878853824 T . Pathogenic 2 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-08-18 17.4 1.3333333333333333 Pathogenic 0 -237412 Simple 150197753 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-21 -11.4 1.0 Benign/Likely benign 1 -237413 Simple 878853827 G . Uncertain significance 2 2 Lynch syndrome;not specified 2016-06-23 -0.5700000000000001 1.5 Uncertain significance 0 -237440 Simple 368848344 T . Likely benign 2 2 Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-02-06 -4.8 3.0 Likely benign 0 -237449 Simple 2066839 T . Likely benign 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -9.0 0.3333333333333333 Benign/Likely benign 1 -237450 Simple 199976372 G . Benign/Likely benign 2 4 Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-07-22 -18.0 0.75 Benign/Likely benign 0 -237454 Simple 201246004 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-09-07 -6.0 0.5 Likely benign 0 -237457 Simple 878853847 - . Pathogenic 2 2 Gorlin syndrome;not provided 2016-08-19 12.0 1.0 Pathogenic/Likely pathogenic 1 -237458 Simple 368563182 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -6.0 0.0 Likely benign 0 -237462 Simple 753002023 G . Uncertain significance 2 3 Gorlin syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -237463 Simple 139705799 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -237482 Simple 149691476 A . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-08-17 -9.0 0.0 Benign/Likely benign 0 -237483 Simple 56007343 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 0.0 Likely benign 0 -237484 Simple 200029534 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-04-18 -6.0 0.5 Likely benign 0 -237487 Simple 139123130 T . Benign/Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -237492 Simple 375998275 A . Uncertain significance 2 3 Gorlin syndrome;Holoprosencephaly 2017-04-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -237497 Simple 752595145 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-12-04 -6.0 0.0 Likely benign 0 -237511 Simple 566220983 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-29 -5.7 1.0 Likely benign 0 -237514 Simple 878853865 T . Pathogenic 2 4 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-08-29 22.8 1.0 Pathogenic 0 -237522 Simple 779727341 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.0 Uncertain significance 0 -237524 Simple 753245823 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-02-10 -5.4 2.0 Likely benign 0 -237525 Simple 776251084 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-05-03 -0.5700000000000001 1.5 Uncertain significance 0 -237531 Simple 878853873 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-01-14 -5.4 2.0 Likely benign 0 -237532 Simple 141382637 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-18 -5.7 1.5 Likely benign 0 -237541 Simple 368995630 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-22 -0.5700000000000001 1.5 Uncertain significance 0 -237544 Simple 768611775 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-03 -5.7 1.0 Likely benign 0 -237546 Simple 755212937 AA . Benign/Likely benign 2 2 Neurofibromatosis, type 1;not specified 2017-10-02 -9.0 0.0 Benign/Likely benign 0 -237556 Simple 199474742 T . Pathogenic 2 5 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-10-09 28.8 1.0 Pathogenic 0 -237560 Simple 878853892 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-30 -0.5700000000000001 1.0 Uncertain significance 0 -237567 Simple 746994734 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.5 Uncertain significance 0 -237569 Simple 878853897 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-24 -0.6 1.0 Uncertain significance 0 -237570 Simple 878853898 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-01 -0.5700000000000001 1.0 Uncertain significance 0 -237571 Simple 755137259 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-15 -6.0 1.0 Likely benign 0 -237578 Simple 375188075 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-01-28 -0.54 2.0 Uncertain significance 0 -237580 Simple 138411879 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-18 -5.7 1.5 Likely benign 0 -237582 Simple 370184932 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-19 -6.0 1.0 Likely benign 0 -237584 Simple 757812365 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-10-11 -5.7 1.5 Likely benign 0 -237585 Simple 878853907 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.0 Uncertain significance 0 -237586 Simple 878853908 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.0 Uncertain significance 0 -237592 Simple 878853913 - . Pathogenic 2 2 Neurofibromatosis, type 1;not provided 2017-01-26 12.0 1.0 Pathogenic/Likely pathogenic 1 -237595 Simple 878853916 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-01 -5.7 1.0 Likely benign 0 -237599 Simple 754343223 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-12 -0.5700000000000001 1.5 Uncertain significance 0 -237601 Simple 587781791 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-08 -0.5700000000000001 1.5 Uncertain significance 0 -237603 Simple 375468032 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-09-06 -0.6 0.5 Uncertain significance 0 -237606 Simple 772090874 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-09 -0.6 0.5 Uncertain significance 0 -237609 Simple 878853921 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -237610 Simple 878853922 G . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-23 11.4 1.5 Pathogenic/Likely pathogenic 1 -237613 Simple 142459414 T . Benign/Likely benign 2 3 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-08-11 -15.0 0.3333333333333333 Benign/Likely benign 0 -237614 Simple 147898623 T . Benign/Likely benign 2 2 Neurofibromatosis, type 2 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -237615 Simple 759993776 A . Likely benign 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-02-23 -5.7 1.5 Likely benign 0 -237616 Simple 144477078 T . Benign/Likely benign 2 2 Neurofibromatosis, type 2;not specified 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -237619 Simple 74315503 A . Uncertain significance 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.5 Uncertain significance 0 -237634 Simple 5935 T . Benign/Likely benign 2 2 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -237639 Simple 758542021 A . Uncertain significance 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.17 0.75 Uncertain significance 0 -237646 Simple 753630034 A . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-05-05 -0.5700000000000001 1.5 Uncertain significance 0 -237647 Simple 878853939 C . Likely benign 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-07-22 -5.7 1.5 Likely benign 0 -237655 Simple 878853945 A . Likely benign 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-02-06 -5.4 2.0 Likely benign 0 -237658 Simple 146897002 T . Likely benign 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-05-24 -6.0 0.0 Likely benign 0 -237662 Simple 145310579 C . Benign/Likely benign 2 4 Retinoblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -15.0 0.5 Benign/Likely benign 0 -237666 Simple 201697122 C . Benign/Likely benign 2 4 Retinoblastoma;not specified 2017-07-31 -18.0 0.75 Benign/Likely benign 0 -237668 Simple 878853949 T . Pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2016-03-06 10.8 2.0 Pathogenic/Likely pathogenic 1 -237673 Simple 148980395 T . Benign/Likely benign 2 4 Retinoblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -15.0 0.5 Benign/Likely benign 0 -237674 Simple 528218090 T . Uncertain significance 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.0 Uncertain significance 0 -237678 Simple 200844292 A . Likely benign 2 4 Retinoblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -12.0 0.5 Benign/Likely benign 1 -237686 Simple 200824587 - . Benign 2 2 Primary ciliary dyskinesia;not provided 2016-11-07 -11.4 1.5 Benign/Likely benign 1 -237689 Simple 878853955 C . Uncertain significance 2 2 Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-05-16 -0.48 2.5 Uncertain significance 0 -237698 Simple 369642207 C . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-08-04 -6.0 0.5 Likely benign 0 -237699 Simple 765695557 A . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2016-08-26 -0.6 1.0 Uncertain significance 0 -237700 Simple 772337076 A . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2016-04-18 -5.7 1.5 Likely benign 0 -237705 Simple 146578402 T . Benign/Likely benign 2 5 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -20.4 1.0 Benign/Likely benign 0 -237711 Simple 115097221 T . Benign/Likely benign 2 5 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -20.4 1.0 Benign/Likely benign 0 -237721 Simple 749979841 T . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2017-03-03 -0.5700000000000001 1.5 Uncertain significance 0 -237725 Simple 770704462 A . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2016-09-08 -5.7 1.5 Likely benign 0 -237727 Simple 142336706 C . Benign/Likely benign 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -11.4 1.0 Benign/Likely benign 0 -237730 Simple 116756594 A . Benign/Likely benign 2 4 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -17.4 1.0 Benign/Likely benign 0 -237732 Simple 397515293 G . Benign/Likely benign 2 5 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -18.0 0.8 Benign/Likely benign 0 -237736 Simple 148197354 T . Uncertain significance 2 2 Hypercholesterolemia, autosomal dominant, type B;not specified;Hypobetalipoproteinemia, familial, 1 2017-09-21 -0.6 0.5 Uncertain significance 0 -237752 Simple 147510760 G . Benign/Likely benign 2 2 Hypercholesterolemia, autosomal dominant, type B;not specified;Hypobetalipoproteinemia, familial, 1 2017-05-30 -9.0 0.0 Benign/Likely benign 0 -237756 Simple 142818334 T . Benign/Likely benign 2 6 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-08-11 -23.4 1.0 Benign/Likely benign 0 -237759 Simple 138638329 A . Likely benign 2 5 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-05-04 -15.0 0.8 Benign/Likely benign 1 -237760 Simple 117375173 G . Benign/Likely benign 2 6 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-07-25 -24.0 0.6666666666666666 Benign 1 -237768 Simple 1801726 G . Benign 2 2 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2017-08-15 -12.0 0.0 Benign/Likely benign 1 -237771 Simple 141631116 A . Benign/Likely benign 2 6 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-06-17 -24.0 0.6666666666666666 Benign 1 -237772 Simple 76438850 C . Likely benign 2 5 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-02-21 -15.0 1.0 Benign/Likely benign 1 -237773 Simple 200039241 A . Uncertain significance 2 2 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2016-03-19 -0.5700000000000001 1.5 Uncertain significance 0 -237774 Simple 370313198 C . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2016-01-14 -10.8 2.0 Benign/Likely benign 1 -237778 Simple 142895373 A . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection 2015-12-02 -5.4 2.0 Likely benign 0 -237779 Simple 751819198 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection 2016-02-15 -8.100000000000001 2.0 Likely benign 1 -237785 Simple 878853981 C . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-24 -12.0 0.5 Benign/Likely benign 1 -237789 Simple 768870802 C . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-01-18 -0.87 1.3333333333333333 Uncertain significance 0 -237794 Simple 762482152 A . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-28 -1.2 0.5 Uncertain significance 0 -237798 Simple 780749732 A . Likely benign 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -8.4 1.3333333333333333 Benign/Likely benign 1 -237806 Simple 755210880 G . Uncertain significance 2 5 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -1.5 0.4 Uncertain significance 0 -237808 Simple 878853993 T . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -11.7 1.0 Benign/Likely benign 1 -237810 Simple 752869298 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-24 -0.5700000000000001 1.0 Uncertain significance 0 -237812 Simple 779527817 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-18 -0.6 0.0 Uncertain significance 0 -237815 Simple 878853996 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-03-14 -0.5700000000000001 1.5 Uncertain significance 0 -237829 Simple 556775078 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -1.1400000000000001 1.25 Uncertain significance 0 -237830 Simple 878854006 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-03-27 -0.5700000000000001 1.5 Uncertain significance 0 -237832 Simple 878854008 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -237833 Simple 878854009 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-22 -0.6 1.0 Uncertain significance 0 -237834 Simple 878854010 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-30 -6.0 0.0 Likely benign 0 -237835 Simple 771012953 C . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -237839 Simple 878854014 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -237840 Simple 878854015 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -12.0 0.5 Benign/Likely benign 1 -237842 Simple 758140052 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -0.87 1.0 Uncertain significance 0 -237843 Simple 151325889 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-01 -0.6 1.0 Uncertain significance 0 -237845 Simple 878854016 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-28 -0.87 1.0 Uncertain significance 0 -237846 Simple 778803692 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-21 -5.7 1.0 Likely benign 0 -237854 Simple 34906874 A . Benign 2 1 Cystic fibrosis;not specified 2016-03-08 . 1.0 . 0 -237860 Simple 756039188 A . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 22.8 1.25 Pathogenic 0 -237863 Simple 878854025 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -237864 Simple 878854026 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -237865 Simple 878854027 T . Pathogenic 2 4 Familial hypercholesterolemia 2016-12-16 23.4 1.25 Pathogenic 0 -237875 Simple 201720099 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type I;not specified 2016-06-02 -0.6 1.0 Uncertain significance 0 -237879 Simple 746889239 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -237881 Simple 587780040 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-27 -0.6 0.5 Uncertain significance 0 -237882 Simple 776136427 C . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -8.7 0.6666666666666666 Benign/Likely benign 1 -237888 Simple 878854036 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-31 -0.5700000000000001 1.5 Uncertain significance 0 -237889 Simple 141458772 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -9.0 0.6666666666666666 Benign/Likely benign 1 -237891 Simple 869312801 T . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-07 -0.6 0.5 Uncertain significance 0 -237896 Simple 267608167 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-11 -0.6 1.0 Uncertain significance 0 -237906 Simple 878854047 T . Likely benign 2 2 Lynch syndrome;not specified 2016-05-11 -5.7 1.5 Likely benign 0 -237909 Simple 754191682 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-15 -0.8999999999999999 0.0 Uncertain significance 0 -237913 Simple 376449640 C . Conflicting interpretations of pathogenicity 1 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-03 -3.6 0.3333333333333333 Uncertain significance 0 -237914 Simple 768488890 C . Uncertain significance 2 2 Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome 2016-10-05 -0.5700000000000001 1.5 Uncertain significance 0 -237915 Simple 752284380 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-25 -0.5700000000000001 1.0 Uncertain significance 0 -237922 Simple 765847615 C . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-25 -8.4 1.6666666666666667 Benign/Likely benign 1 -237927 Simple 1805319 T . Benign/Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-12 -11.4 1.3333333333333333 Benign/Likely benign 0 -237932 Simple 267608153 T . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 6.0 0.5 Likely pathogenic 0 -237933 Simple 786201878 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-11 -0.5700000000000001 1.5 Uncertain significance 0 -237935 Simple 182085259 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -0.5700000000000001 1.0 Uncertain significance 0 -237936 Simple 878854061 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-06 -5.7 1.5 Likely benign 0 -237939 Simple 878854062 C . Likely benign 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -9.0 0.6666666666666666 Benign/Likely benign 1 -237941 Simple 878854064 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-03-22 -0.6 0.5 Uncertain significance 0 -237942 Simple 774656101 C . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -237950 Simple 762846821 T . Uncertain significance 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-02-09 -0.87 1.3333333333333333 Uncertain significance 0 -237951 Simple 878854071 - . Pathogenic 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-04-04 10.2 2.0 Pathogenic/Likely pathogenic 1 -237955 Simple 878854074 A . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-04-28 -5.7 1.5 Likely benign 0 -237961 Simple 765622787 C . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-09-01 -0.6 0.0 Uncertain significance 0 -237967 Simple 376692777 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-07-18 -9.0 0.0 Benign/Likely benign 0 -237976 Simple 746315218 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-02-15 -0.6 1.0 Uncertain significance 0 -237978 Simple 749536123 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-08-20 -5.7 1.5 Likely benign 0 -237983 Simple 764725850 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-11 -0.6 0.5 Uncertain significance 0 -237985 Simple 369851248 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-03 -6.0 0.5 Likely benign 0 -237990 Simple 767178958 T . Likely benign 2 1 Tuberous sclerosis 2;not specified 2017-07-04 . 0.0 . 0 -238000 Simple 878854087 G . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2016-03-11 -0.5700000000000001 1.5 Uncertain significance 0 -238001 Simple 145624233 A . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-22 -6.0 0.5 Likely benign 0 -238002 Simple 751474097 T . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-07-13 -6.0 0.5 Likely benign 0 -238003 Simple 137933794 G . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -16.8 1.5 Benign/Likely benign 0 -238006 Simple 878854089 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-01-05 -0.54 2.0 Uncertain significance 0 -238010 Simple 373950550 A . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-02-13 -9.0 1.0 Benign/Likely benign 1 -238011 Simple 562998574 G . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-07-18 -5.7 1.5 Likely benign 0 -238016 Simple 368923127 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-13 -8.7 1.0 Benign/Likely benign 0 -238021 Simple 549427685 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-08-04 -8.7 1.0 Benign/Likely benign 0 -238026 Simple 144891432 A . Likely benign 2 2 Tuberous sclerosis 2;not specified 2016-12-19 -6.0 1.0 Likely benign 0 -238034 Simple 749057825 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified 2017-05-03 -12.0 0.6666666666666666 Benign/Likely benign 0 -238039 Simple 878854100 - . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-07-19 -6.0 0.0 Likely benign 0 -238043 Simple 878854104 G . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2017-01-28 -0.6 1.0 Uncertain significance 0 -238045 Simple 759004251 T . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -238047 Simple 878854105 - . Pathogenic 2 2 Tuberous sclerosis 2;not provided 2016-04-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -238053 Simple 199943270 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-27 -12.0 0.5 Benign/Likely benign 0 -238059 Simple 369346726 C . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -238062 Simple 147578602 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified 2017-07-11 -12.0 0.3333333333333333 Benign/Likely benign 0 -238068 Simple 150239180 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-28 -8.4 1.5 Benign/Likely benign 0 -238069 Simple 45517381 T . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2016-12-27 -8.7 1.3333333333333333 Benign/Likely benign 1 -238073 Simple 45467993 T . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-04-24 -6.0 0.5 Likely benign 0 -238078 Simple 780112037 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-09-09 -0.5700000000000001 1.5 Uncertain significance 0 -238082 Simple 769507440 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-04-15 -9.0 0.5 Benign/Likely benign 0 -238083 Simple 45517418 G . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-06-12 -0.5700000000000001 1.0 Uncertain significance 0 -238084 Simple 536518032 C . Likely benign 2 2 Tuberous sclerosis 2;not specified 2016-10-04 -5.7 1.5 Likely benign 0 -238085 Simple 878854119 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-08-02 -0.6 0.5 Uncertain significance 0 -238086 Simple 557200243 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-21 -6.0 0.5 Likely benign 0 -238087 Simple 367703283 C . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-03-28 -8.7 1.0 Benign/Likely benign 1 -238089 Simple 567756494 A . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -15.0 0.75 Benign/Likely benign 0 -238093 Simple 373818076 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -14.4 0.6666666666666666 Benign/Likely benign 0 -238100 Simple 199583685 G . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-06-23 -0.6 0.0 Uncertain significance 0 -238103 Simple 113612866 G . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-01-03 -0.5700000000000001 1.5 Uncertain significance 0 -238106 Simple 578091032 T . Uncertain significance 2 4 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.2 0.5 Uncertain significance 0 -238107 Simple 878854125 G . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-04-28 -0.6 0.5 Uncertain significance 0 -238108 Simple 372757722 C . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2016-03-28 -0.5700000000000001 1.5 Uncertain significance 0 -238113 Simple 878854129 A . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome 2016-07-19 -0.5700000000000001 1.5 Uncertain significance 0 -238116 Simple 141495269 T . Uncertain significance 2 2 Werner syndrome 2017-01-07 -0.6 1.0 Uncertain significance 0 -238152 Simple 3087424 C . Benign/Likely benign 2 2 Werner syndrome 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -238170 Simple 139842134 A . Benign 2 2 Long QT syndrome;not specified 2017-06-27 -11.4 1.0 Benign/Likely benign 1 -238171 Simple 113869350 A . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;Cardiovascular phenotype 2017-07-28 -17.4 1.0 Benign/Likely benign 0 -238179 Simple 73151504 A . Benign 2 4 Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-04 -23.4 0.75 Benign/Likely benign 1 -238180 Simple 75158917 T . Benign/Likely benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-07-27 -11.7 0.6666666666666666 Benign/Likely benign 0 -238182 Simple 139694653 A . Benign/Likely benign 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-05-26 -14.4 1.0 Benign/Likely benign 0 -238185 Simple 1800499 T . Benign/Likely benign 2 1 not specified;Dystonia 2017-07-25 . 0.0 . 0 -238188 Simple 200137318 T . Likely benign 2 2 Epilepsy, childhood absence 1;Epilepsy, childhood absence 5;not specified 2017-09-28 -5.7 1.0 Likely benign 0 -238192 Simple 140093291 C . Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-11-03 -8.7 1.3333333333333333 Benign/Likely benign 1 -238196 Simple 58263806 A . Benign/Likely benign 2 3 Diamond-Blackfan anemia;not specified 2017-07-09 -15.0 0.3333333333333333 Benign/Likely benign 0 -238197 Simple 113792800 C . Benign/Likely benign 2 3 Diamond-Blackfan anemia;not specified 2017-07-06 -14.4 1.0 Benign/Likely benign 0 -238200 Simple 11540832 G . Benign/Likely benign 2 4 Diamond-Blackfan anemia;not specified;not provided 2017-07-28 -15.0 0.5 Benign/Likely benign 0 -238205 Simple 17419023 T . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2016-12-05 -14.4 1.3333333333333333 Benign/Likely benign 0 -238207 Simple 117598326 T . Benign/Likely benign 2 4 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-11 -17.4 1.0 Benign/Likely benign 0 -238211 Simple 147863199 T . Benign/Likely benign 2 2 Diamond-Blackfan anemia 2016-08-11 -9.0 1.0 Benign/Likely benign 0 -238225 Simple 371262363 T . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-06-06 -6.0 1.0 Likely benign 0 -238227 Simple 878854154 G . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-01-16 -0.5700000000000001 1.5 Uncertain significance 0 -238229 Simple 745329806 C . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-05-20 -5.7 1.5 Likely benign 0 -238233 Simple 878854156 T . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-08-05 -6.0 1.0 Likely benign 0 -238243 Simple 28756982 T . Benign/Likely benign 2 2 Lynch syndrome;MLH3-Related Lynch Syndrome 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -238254 Simple 114829239 C . Benign/Likely benign 2 2 Lynch syndrome;not specified;MLH3-Related Lynch Syndrome 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -238259 Simple 373920725 T . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-10-04 -5.7 1.0 Likely benign 0 -238263 Simple 759015770 GG . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-11-06 -8.4 1.0 Benign/Likely benign 0 -238264 Simple 765457680 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-07-11 -0.5700000000000001 1.0 Uncertain significance 0 -238276 Simple 200764366 A . Uncertain significance 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-12-14 -0.8999999999999999 1.0 Uncertain significance 0 -238288 Simple 117234138 A . Benign/Likely benign 2 3 Revesz syndrome;Dyskeratosis congenita;Dyskeratosis Congenita, Dominant 2017-08-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -238289 Simple 5985637 C . Benign 2 3 not specified;Epileptic encephalopathy, early infantile, 36 2017-08-09 -17.4 0.6666666666666666 Benign/Likely benign 1 -238290 Simple 146925326 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2016-04-16 -11.4 1.5 Benign/Likely benign 1 -238291 Simple 374174400 G . Uncertain significance 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-08-17 -0.5700000000000001 1.0 Uncertain significance 0 -238293 Simple 200066623 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -238298 Simple 748034053 C . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2016-06-06 -0.5700000000000001 1.5 Uncertain significance 0 -238302 Simple 371930065 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-04-26 -0.6 0.0 Uncertain significance 0 -238303 Simple 144025957 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-04-12 -0.5700000000000001 1.0 Uncertain significance 0 -238304 Simple 200247458 T . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2016-01-08 -5.4 2.0 Likely benign 0 -238305 Simple 187763364 A . Benign 2 1 Heterotaxy, visceral, 4, autosomal;not specified 2017-01-19 . 1.0 . 0 -238306 Simple 2228012 T . Benign 2 1 Heterotaxy, visceral, 4, autosomal;not specified 2017-01-19 . 1.0 . 0 -238307 Simple 79080874 C . Benign/Likely benign 2 2 Fanconi anemia;not provided 2017-07-13 -9.0 0.0 Benign/Likely benign 0 -238308 Simple 199726965 A . Uncertain significance 2 2 Fanconi anemia 2017-06-01 -0.6 0.5 Uncertain significance 0 -238322 Simple 878854178 TT . Benign/Likely benign 2 2 Fanconi anemia;not provided 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -238326 Simple 185599057 C . Benign/Likely benign 2 1 Fanconi anemia;not specified 2017-06-05 . 0.0 . 0 -238335 Simple 878854184 T . Likely benign 2 2 MYH-associated polyposis;not specified 2017-09-15 -5.7 1.0 Likely benign 0 -238336 Simple 764366493 A . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-04-07 -5.7 1.5 Likely benign 0 -238337 Simple 376790729 A . Pathogenic/Likely pathogenic 2 4 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-03-27 20.4 1.0 Pathogenic 1 -238339 Simple 876659488 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -238340 Simple 780209880 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -238343 Simple 878854187 C . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-10-27 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -238346 Simple 878854190 T . Likely benign 2 2 MYH-associated polyposis;not specified 2016-07-21 -6.0 1.0 Likely benign 0 -238350 Simple 190500741 G . Likely benign 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -9.0 0.0 Benign/Likely benign 1 -238352 Simple 878854193 A . Likely pathogenic 2 2 MYH-associated polyposis;not provided 2016-09-07 6.0 1.0 Likely pathogenic 0 -238353 Simple 369052315 T . Likely benign 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -238355 Simple 878854195 G . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -238356 Simple 371214327 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-11-09 -0.6 0.0 Uncertain significance 0 -238357 Simple 878854196 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-17 -0.6 1.0 Uncertain significance 0 -238358 Simple 374167170 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-12 -5.7 1.0 Likely benign 0 -238360 Simple 191312392 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-17 -5.7 1.0 Likely benign 0 -238364 Simple 368180712 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;not specified 2017-07-10 -6.0 0.5 Likely benign 0 -238365 Simple 540717794 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-10 -0.6 0.0 Uncertain significance 0 -238366 Simple 372803010 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-24 -6.0 0.5 Likely benign 0 -238367 Simple 182329193 G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-10-08 -6.0 1.0 Likely benign 0 -238370 Simple 371062068 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-10-31 -0.6 1.0 Uncertain significance 0 -238372 Simple 367601832 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.0 Uncertain significance 0 -238373 Simple 376367395 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-12-08 -6.0 1.0 Likely benign 0 -238375 Simple 374635008 T . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;not provided;Coffin-Siris syndrome 2017-08-15 -18.0 0.5 Benign/Likely benign 0 -238378 Simple 528531511 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-02 -5.7 1.5 Likely benign 0 -238379 Simple 2288845 T . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-07-21 -11.7 1.0 Benign/Likely benign 0 -238381 Simple 141090393 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-03 -0.6 1.0 Uncertain significance 0 -238382 Simple 114391904 G . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-21 -14.4 1.0 Benign/Likely benign 0 -238383 Simple 878854202 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-06-21 -6.0 1.0 Likely benign 0 -238384 Simple 150138332 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-21 -5.7 1.0 Likely benign 0 -238386 Simple 539865173 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.5 Likely benign 0 -238388 Simple 368941893 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-26 -5.7 1.0 Likely benign 0 -238389 Simple 878854204 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-12 -6.0 0.5 Likely benign 0 -238390 Simple 754815286 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-10-03 -0.5700000000000001 1.5 Uncertain significance 0 -238391 Simple 376562928 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-05-07 -5.7 1.5 Likely benign 0 -238392 Simple 376562928 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-27 -5.7 1.0 Likely benign 0 -238393 Simple 748147246 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.0 Uncertain significance 0 -238394 Simple 538629432 T . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-05 -8.7 1.0 Benign/Likely benign 0 -238395 Simple 762146990 G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;not specified 2017-06-28 -6.0 0.5 Likely benign 0 -238398 Simple 117611401 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-02 -0.5700000000000001 1.5 Uncertain significance 0 -238400 Simple 772638166 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-12-19 -6.0 1.0 Likely benign 0 -238402 Simple 767638396 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.0 Uncertain significance 0 -238404 Simple 199634608 C . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-04 -8.7 1.0 Benign/Likely benign 0 -238407 Simple 878854211 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-19 -6.0 0.5 Likely benign 0 -238408 Simple 369724341 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-28 -5.7 1.0 Likely benign 0 -238410 Simple 369795542 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.7 1.0 Likely benign 0 -238411 Simple 766701688 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-04 -6.0 1.0 Likely benign 0 -238412 Simple 559282159 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-13 -5.7 1.0 Likely benign 0 -238413 Simple 373267815 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-13 -6.0 1.0 Likely benign 0 -238414 Simple 183695281 A . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -11.7 1.0 Benign/Likely benign 0 -238416 Simple 147791182 T . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-21 -8.7 1.0 Benign/Likely benign 0 -238418 Simple 141259126 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-12 -5.7 1.0 Likely benign 0 -238419 Simple 750609318 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-26 -5.7 1.0 Likely benign 0 -238422 Simple 149111403 T . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-09 -11.7 1.0 Benign/Likely benign 0 -238426 Simple 878854213 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-09-01 -6.0 1.0 Likely benign 0 -238427 Simple 138764713 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-11 -8.7 1.0 Benign/Likely benign 1 -238428 Simple 200007170 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.0 Uncertain significance 0 -238429 Simple 375444418 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-11 -6.0 0.5 Likely benign 0 -238430 Simple 368250779 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-07 -5.7 1.0 Likely benign 0 -238431 Simple 140322802 A . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-07-27 -8.7 1.0 Benign/Likely benign 1 -238432 Simple 61761957 A . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-07 -8.7 1.0 Benign/Likely benign 0 -238433 Simple 763218564 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-21 -6.0 0.5 Likely benign 0 -238434 Simple 139943231 T . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-10 -11.7 1.0 Benign/Likely benign 0 -238435 Simple 183060137 A . Benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-14 -11.4 1.0 Benign/Likely benign 1 -238439 Simple 373041389 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -8.4 1.3333333333333333 Benign/Likely benign 1 -238440 Simple 773151387 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-11 -5.7 1.0 Likely benign 0 -238441 Simple 148495641 T . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-11 -8.7 1.0 Benign/Likely benign 0 -238443 Simple 878854217 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-09-29 -5.7 1.5 Likely benign 0 -238446 Simple 878854220 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-03-19 -5.7 1.5 Likely benign 0 -238447 Simple 150949949 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -238448 Simple 575792225 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-03 -5.7 1.0 Likely benign 0 -238449 Simple 755059270 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-01-09 -5.4 2.0 Likely benign 0 -238450 Simple 762023872 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-13 -0.6 1.0 Uncertain significance 0 -238452 Simple 201309716 A . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Coffin-Siris syndrome 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -238456 Simple 779801126 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;not provided 2017-08-15 -0.6 0.5 Uncertain significance 0 -238457 Simple 747852149 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-09-30 -0.6 1.0 Uncertain significance 0 -238459 Simple 767494921 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -8.7 1.0 Benign/Likely benign 1 -238460 Simple 201879930 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-31 -5.7 1.0 Likely benign 0 -238462 Simple 61761958 G . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-07 -8.7 1.0 Benign/Likely benign 0 -238463 Simple 370218941 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-04-06 -5.7 1.5 Likely benign 0 -238466 Simple 377057304 T . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-26 -9.0 0.5 Benign/Likely benign 0 -238467 Simple 374722116 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.5 Uncertain significance 0 -238468 Simple 759313926 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-03 -6.0 0.5 Likely benign 0 -238470 Simple 878854226 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-21 -5.7 1.0 Likely benign 0 -238471 Simple 373999751 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-26 -5.7 1.0 Likely benign 0 -238473 Simple 200087760 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-24 -5.7 1.0 Likely benign 0 -238474 Simple 552535004 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-15 -5.7 1.0 Likely benign 0 -238475 Simple 878854227 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-02-12 -0.54 2.0 Uncertain significance 0 -238478 Simple 145435121 T . Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-07-26 -11.7 0.75 Benign/Likely benign 1 -238479 Simple 774391397 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-19 -5.7 1.0 Likely benign 0 -238480 Simple 377000132 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-09-29 -5.7 1.5 Likely benign 0 -238482 Simple 758343834 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-17 -5.7 1.0 Likely benign 0 -238484 Simple 746415437 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-02-17 -8.7 1.3333333333333333 Benign/Likely benign 1 -238485 Simple 878854229 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;not provided 2016-06-27 -0.6 1.0 Uncertain significance 0 -238488 Simple 148115492 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-12-04 -0.6 0.0 Uncertain significance 0 -238489 Simple 199723473 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-11 -5.7 1.0 Likely benign 0 -238490 Simple 373858447 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.0 Uncertain significance 0 -238491 Simple 878854231 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.5 Uncertain significance 0 -238493 Simple 372319442 A . Uncertain significance 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.87 0.6666666666666666 Uncertain significance 0 -238496 Simple 878854234 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.0 Uncertain significance 0 -238497 Simple 182644267 A . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-07-11 -11.7 1.0 Benign/Likely benign 0 -238498 Simple 146427223 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2015-12-28 -5.4 2.0 Likely benign 0 -238503 Simple 867536416 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.0 Uncertain significance 0 -238504 Simple 139335250 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-31 -5.7 1.0 Likely benign 0 -238505 Simple 529632222 A . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-26 -8.7 1.0 Benign/Likely benign 0 -238506 Simple 778071122 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.5 Uncertain significance 0 -238510 Simple 878854237 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-07 -5.7 1.0 Likely benign 0 -238511 Simple 372941839 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-23 -5.7 1.5 Likely benign 0 -238512 Simple 878854238 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-04 -0.5700000000000001 1.5 Uncertain significance 0 -238516 Simple 201600949 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-06 -0.6 0.5 Uncertain significance 0 -238518 Simple 878854241 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-08-01 -5.7 1.5 Likely benign 0 -238519 Simple 756224211 T . Benign/Likely benign 2 4 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-04 -14.7 0.75 Benign/Likely benign 0 -238520 Simple 376219601 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-05-13 -5.7 1.5 Likely benign 0 -238521 Simple 371045201 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.5 Uncertain significance 0 -238522 Simple 768522438 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.0 Uncertain significance 0 -238523 Simple 375413993 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-26 -5.7 1.0 Likely benign 0 -238526 Simple 781066262 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-20 -0.6 0.0 Uncertain significance 0 -238527 Simple 878854244 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-23 -0.6 1.0 Uncertain significance 0 -238530 Simple 766422429 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-18 -0.6 0.5 Uncertain significance 0 -238532 Simple 878854245 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-03 -0.6 1.0 Uncertain significance 0 -238533 Simple 369239429 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-12 -5.7 1.0 Likely benign 0 -238534 Simple 770946823 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-13 -0.6 0.5 Uncertain significance 0 -238535 Simple 370097699 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.0 Uncertain significance 0 -238536 Simple 775843321 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-22 -0.6 0.5 Uncertain significance 0 -238537 Simple 538345417 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-14 -5.7 1.0 Likely benign 0 -238540 Simple 372779649 T . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2016-06-02 -0.5700000000000001 1.5 Uncertain significance 0 -238541 Simple 374893683 T . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2016-01-27 -8.100000000000001 2.0 Likely benign 1 -238546 Simple 138926584 A . Uncertain significance 2 2 Dilated cardiomyopathy 1DD 2016-02-26 -0.54 2.0 Uncertain significance 0 -238553 Simple 371828469 T . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2016-03-03 -0.54 2.0 Uncertain significance 0 -238569 Simple 34145832 G . Benign/Likely benign 2 3 Long QT syndrome;Cardiovascular phenotype 2017-07-31 -14.4 1.0 Benign/Likely benign 0 -238579 Simple 72556367 C . Benign/Likely benign 2 2 Long QT syndrome 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -238583 Simple 150737736 T . Uncertain significance 2 2 Long QT syndrome;not specified 2016-12-05 -0.6 1.0 Uncertain significance 0 -238586 Simple 190680846 C . Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-08-21 -9.0 0.3333333333333333 Benign/Likely benign 1 -238588 Simple 184514058 G . Benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-05-22 -11.4 1.0 Benign/Likely benign 1 -238590 Simple 35338364 C . Benign/Likely benign 2 3 Long QT syndrome;not specified 2017-07-15 -15.0 0.6666666666666666 Benign/Likely benign 0 -238597 Simple 61985140 T . Benign 2 2 Spastic paraplegia 28, autosomal recessive;not specified 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -238598 Simple 180742508 A . Benign/Likely benign 2 2 Spastic paraplegia 28, autosomal recessive;not specified 2017-08-10 -9.0 0.0 Benign/Likely benign 0 -238666 Simple 28989189 C . Benign/Likely benign 2 2 not specified;Mosaic variegated aneuploidy syndrome 2017-08-02 -9.0 0.0 Benign/Likely benign 0 -238672 Simple 41311139 T . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-08-11 . 0.0 . 0 -238673 Simple 181347577 T . Benign/Likely benign 2 2 Epilepsy, familial focal, with variable foci 1;not provided 2017-06-29 -9.0 0.0 Benign/Likely benign 0 -238674 Simple 61731667 A . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-08-07 . 0.0 . 0 -238676 Simple 61731664 A . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-08-07 . 0.0 . 0 -238677 Simple 118001924 A . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-07-28 . 0.0 . 0 -238682 Simple 146449468 T . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-08-07 . 0.0 . 0 -238688 Simple 878854281 TT . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2017-01-24 9.0 1.0 Pathogenic/Likely pathogenic 0 -238697 Simple 145560044 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -238712 Simple 144750850 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-09-14 -6.0 0.0 Likely benign 0 -238725 Simple 371512914 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Dilated cardiomyopathy 1S;not specified 2016-05-01 -0.54 2.0 Uncertain significance 0 -238728 Simple 772596633 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-11 -0.5700000000000001 1.0 Uncertain significance 0 -238743 Simple 370498307 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-02-15 -0.54 2.0 Uncertain significance 0 -238748 Simple 182428755 T . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -12.0 0.0 Benign/Likely benign 1 -238750 Simple 878854299 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-01-16 -0.54 2.0 Uncertain significance 0 -238763 Simple 368702156 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-04 -8.4 1.0 Benign/Likely benign 0 -238764 Simple 200819643 G . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -8.7 1.0 Benign/Likely benign 0 -238778 Simple 374085402 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-01-01 -0.54 2.0 Uncertain significance 0 -238780 Simple 774245300 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-25 -0.6 1.0 Uncertain significance 0 -238786 Simple 182706301 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-07 -9.0 0.0 Benign/Likely benign 0 -238818 Simple 575837567 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-25 -0.5700000000000001 1.5 Uncertain significance 0 -238822 Simple 116158152 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2015-12-25 -0.54 2.0 Uncertain significance 0 -238827 Simple 183276016 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -238829 Simple 548223512 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-01-31 -8.7 1.5 Benign/Likely benign 0 -238840 Simple 878854332 - . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2016-07-12 8.7 1.5 Pathogenic/Likely pathogenic 0 -238841 Simple 371563258 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-01-01 -5.4 2.0 Likely benign 0 -238847 Simple 781076407 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-06 -0.5700000000000001 1.5 Uncertain significance 0 -238849 Simple 779878975 A . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.1 1.0 Uncertain significance 0 -238878 Simple 144093014 C . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-08-03 -11.4 1.0 Benign/Likely benign 1 -238879 Simple 150268140 T . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-08-02 -11.4 1.0 Benign/Likely benign 1 -238880 Simple 76621355 T . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-07-17 -11.4 1.0 Benign/Likely benign 1 -238881 Simple 61756301 A . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-08-11 -11.4 1.0 Benign/Likely benign 1 -238883 Simple 35339954 G . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-04-20 -12.0 0.5 Benign/Likely benign 1 -238889 Simple 202148932 G . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-07-04 -0.6 1.0 Uncertain significance 0 -238905 Simple 72657303 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-04 . 0.0 . 0 -238914 Simple 17144788 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified;not provided 2017-08-28 -9.0 0.0 Benign/Likely benign 0 -238917 Simple 72657315 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-02 . 0.0 . 0 -238931 Simple 28549882 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-01-24 . 1.0 . 0 -238933 Simple 74667361 C . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-06 . 0.0 . 0 -238940 Simple 28751578 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-06 -9.0 0.5 Benign/Likely benign 0 -238946 Simple 201944089 C . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-06-14 -0.6 1.0 Uncertain significance 0 -238950 Simple 41526244 A . Benign 2 2 Supravalvar aortic stenosis;not specified 2016-02-24 -10.8 2.0 Benign/Likely benign 1 -238954 Simple 141651941 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-31 . 0.0 . 0 -238955 Simple 16902950 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-05-16 . 0.0 . 0 -238959 Simple 3756672 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-14 . 0.0 . 0 -238964 Simple 367709427 T . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -238972 Simple 148017278 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-02-21 -0.6 1.0 Uncertain significance 0 -238974 Simple 61747551 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2016-01-01 . 2.0 . 0 -238975 Simple 34671383 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-03 . 0.0 . 0 -238977 Simple 150868941 T . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2017-03-09 -0.6 0.5 Uncertain significance 0 -238984 Simple 115109673 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified;not provided 2017-08-28 -9.0 0.0 Benign/Likely benign 0 -238992 Simple 80096622 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-06-27 -8.7 1.0 Benign/Likely benign 0 -238993 Simple 115992196 T . Benign/Likely benign 2 6 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-10 -26.4 0.8333333333333334 Benign 1 -238996 Simple 200731839 T . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-02-10 -6.0 1.0 Likely benign 0 -238998 Simple 200905961 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-07-10 -0.5700000000000001 1.0 Uncertain significance 0 -238999 Simple 774198261 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-02-20 -0.5700000000000001 1.5 Uncertain significance 0 -239000 Simple 139070737 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-02-23 -9.0 1.0 Benign/Likely benign 0 -239002 Simple 117189734 G . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-07-17 -21.0 0.8 Benign/Likely benign 0 -239005 Simple 182106777 T . Benign/Likely benign 2 3 Myopathy with postural muscle atrophy, X-linked;not specified 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -239009 Simple 149670651 T . Benign/Likely benign 2 3 Myopathy with postural muscle atrophy, X-linked;not specified 2017-10-16 -14.4 0.6666666666666666 Benign/Likely benign 0 -239012 Simple 141231353 T . Benign/Likely benign 2 2 Myopathy with postural muscle atrophy, X-linked;not specified 2016-03-06 -8.7 1.5 Benign/Likely benign 0 -239013 Simple 151315725 A . Benign 2 3 Myopathy with postural muscle atrophy, X-linked;not specified 2017-08-04 -16.8 1.3333333333333333 Benign/Likely benign 1 -239025 Simple 61649746 T . Benign 2 2 not specified;Spastic paraplegia 2016-11-06 -11.4 1.5 Benign/Likely benign 1 -239026 Simple 144922627 T . Benign/Likely benign 2 2 not provided;Spastic paraplegia 2016-12-29 -8.4 1.5 Benign/Likely benign 0 -239028 Simple 61751217 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease type 2F;not specified 2017-09-21 -15.0 0.3333333333333333 Benign/Likely benign 0 -239030 Simple 117598688 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-07-26 -14.4 1.0 Benign/Likely benign 0 -239039 Simple 80314254 A . Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy 2017-07-28 -6.0 0.5 Likely benign 0 -239042 Simple 544247912 A . Benign/Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -239043 Simple 147889692 A . Benign/Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -239044 Simple 200431130 T . Uncertain significance 2 2 Familial platelet disorder with associated myeloid malignancy;not specified 2017-07-31 -0.6 0.0 Uncertain significance 0 -239045 Simple 111527738 G . Benign/Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy;not specified 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -239047 Simple 142472642 A . Benign/Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -239052 Simple 145230602 A . Benign/Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -239057 Simple 59802347 A . Benign/Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -239085 Simple 878854475 C . Uncertain significance 2 2 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection 2017-03-16 -0.6 0.5 Uncertain significance 0 -239092 Simple 878854479 C . Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2016-10-03 -5.7 1.5 Likely benign 0 -239095 Simple 56206007 C . Benign 2 2 Atrioventricular septal defect 4;Cardiovascular phenotype 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -239100 Simple 772532276 T . Likely benign 2 2 not specified;Atrioventricular septal defect 4 2017-07-27 -5.7 1.0 Likely benign 0 -239102 Simple 147135152 G . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -239104 Simple 781884735 G . Uncertain significance 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-01-17 -0.5700000000000001 1.5 Uncertain significance 0 -239106 Simple 140539043 T . Benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2016-01-07 -10.8 2.0 Benign/Likely benign 1 -239115 Simple 147078770 G . Likely benign 2 2 not specified;Dilated cardiomyopathy 1JJ 2016-06-09 -5.7 1.5 Likely benign 0 -239118 Simple 150520869 A . Benign/Likely benign 2 2 Danon disease;not specified 2017-03-02 -9.0 1.0 Benign/Likely benign 0 -239119 Simple 543584983 G . Uncertain significance 2 2 Hereditary nonpolyposis colorectal cancer type 8;Lynch syndrome 2016-04-19 -0.5700000000000001 1.5 Uncertain significance 0 -239149 Simple 775808138 G . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.5 Uncertain significance 0 -239151 Simple 750459929 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -239152 Simple 201192930 A . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2017-06-07 -9.0 0.5 Benign/Likely benign 0 -239153 Simple 11547464 A . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -239161 Simple 146544450 A . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -239163 Simple 759520932 G . Uncertain significance 2 4 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.2 1.0 Uncertain significance 0 -239166 Simple 369247906 T . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-01-05 -0.87 1.3333333333333333 Uncertain significance 0 -239171 Simple 57660219 C . Benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -239175 Simple 201827489 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;Dilated cardiomyopathy;Migraine;Hemiplegia 2015-11-10 -0.51 2.5 Uncertain significance 0 -239179 Simple 878854502 TT . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;Cardiovascular phenotype 2016-09-22 -0.5700000000000001 1.5 Uncertain significance 0 -239180 Simple 878854503 T . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-08-14 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -239182 Simple 756023239 C . Uncertain significance 2 4 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-09-12 -1.2 0.25 Uncertain significance 0 -239185 Simple 878854505 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-11 -0.6 0.5 Uncertain significance 0 -239186 Simple 750711786 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-04-14 -0.6 0.5 Uncertain significance 0 -239188 Simple 769773789 A . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-03-17 -11.7 1.0 Benign/Likely benign 1 -239192 Simple 772059959 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.5 Uncertain significance 0 -239199 Simple 577332041 C . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -12.0 1.0 Benign/Likely benign 1 -239202 Simple 369910645 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-09-08 -0.6 0.5 Uncertain significance 0 -239208 Simple 755171159 A . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-05-26 -0.5700000000000001 1.5 Uncertain significance 0 -239210 Simple 753812768 G . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-12-07 -0.87 1.3333333333333333 Uncertain significance 0 -239216 Simple 373404887 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -8.7 0.6666666666666666 Benign/Likely benign 1 -239217 Simple 140539427 C . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -239219 Simple 758535338 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-03 -5.7 1.0 Likely benign 0 -239220 Simple 878854518 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-01-05 -0.5700000000000001 1.5 Uncertain significance 0 -239221 Simple 139883454 C . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-11 -5.7 1.0 Likely benign 0 -239224 Simple 764023083 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-09-27 -0.6 0.0 Uncertain significance 0 -239225 Simple 377462923 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -8.7 0.6666666666666666 Benign/Likely benign 1 -239226 Simple 878854519 G . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-11-28 -0.8999999999999999 0.0 Uncertain significance 0 -239227 Simple 749611798 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-02-13 -0.87 1.3333333333333333 Uncertain significance 0 -239228 Simple 139557851 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.0 Uncertain significance 0 -239230 Simple 376711125 T . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-11-10 -0.8999999999999999 0.0 Uncertain significance 0 -239231 Simple 773075581 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -8.7 0.6666666666666666 Benign/Likely benign 1 -239233 Simple 374719944 T . Likely benign 2 4 Colorectal cancer 10;not specified 2017-08-08 -12.0 0.25 Benign/Likely benign 1 -239236 Simple 763643495 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-03-16 -6.0 0.5 Likely benign 0 -239237 Simple 761526047 T . Likely benign 2 2 Colorectal cancer 10;not specified 2016-01-06 -5.4 2.0 Likely benign 0 -239239 Simple 565428379 T . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-11-07 -15.0 0.25 Benign/Likely benign 0 -239240 Simple 371647100 T . Benign/Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -11.7 0.6666666666666666 Benign/Likely benign 0 -239241 Simple 201208120 T . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -11.7 0.75 Benign/Likely benign 1 -239242 Simple 140379348 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.0 Uncertain significance 0 -239244 Simple 143076166 A . Uncertain significance 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-10-26 -1.47 0.6 Uncertain significance 0 -239245 Simple 370359745 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-12 -8.7 1.0 Benign/Likely benign 1 -239248 Simple 150238541 T . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -14.7 0.5 Benign/Likely benign 0 -239252 Simple 2230248 T . Benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -22.8 1.25 Benign/Likely benign 1 -239255 Simple 369152704 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -239260 Simple 80214209 G . Benign/Likely benign 2 3 Colorectal cancer 10;not specified 2017-09-05 -12.0 0.3333333333333333 Benign/Likely benign 0 -239261 Simple 80214209 T . Benign/Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -11.7 1.0 Benign/Likely benign 0 -239266 Simple 753863287 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -8.7 1.0 Benign/Likely benign 1 -239267 Simple 144707871 A . Uncertain significance 2 3 Colorectal cancer 10;not specified 2017-11-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -239271 Simple 201483538 T . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -14.7 0.5 Benign/Likely benign 0 -239274 Simple 763876339 A . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -11.7 0.75 Benign/Likely benign 1 -239279 Simple 56051075 A . Benign/Likely benign 2 2 Colorectal cancer 10;not specified 2017-07-26 -9.0 0.0 Benign/Likely benign 0 -239280 Simple 760638243 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-09 -0.6 0.5 Uncertain significance 0 -239281 Simple 148838746 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -0.87 0.6666666666666666 Uncertain significance 0 -239282 Simple 759190487 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -239283 Simple 753865441 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-11-07 -0.6 0.5 Uncertain significance 0 -239284 Simple 780138978 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-22 -0.6 0.0 Uncertain significance 0 -239287 Simple 147108748 A . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -14.7 0.5 Benign/Likely benign 0 -239290 Simple 775317882 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -8.7 1.0 Benign/Likely benign 1 -239292 Simple 878854537 C . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2016-07-25 -8.7 1.3333333333333333 Benign/Likely benign 1 -239293 Simple 369444765 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-01-26 -8.7 1.3333333333333333 Benign/Likely benign 1 -239294 Simple 201006221 T . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.87 1.0 Uncertain significance 0 -239299 Simple 373650022 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-24 -0.6 0.5 Uncertain significance 0 -239300 Simple 373650022 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -239303 Simple 149366027 T . Benign/Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -11.7 1.0 Benign/Likely benign 0 -239304 Simple 200687128 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-11 -5.7 1.0 Likely benign 0 -239305 Simple 769965495 T . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -14.7 0.5 Benign/Likely benign 0 -239308 Simple 760140187 T . Likely benign 2 2 Colorectal cancer 10 2016-07-11 -5.7 1.5 Likely benign 0 -239311 Simple 762628311 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-20 -5.7 1.0 Likely benign 0 -239313 Simple 878854543 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -8.4 1.3333333333333333 Benign/Likely benign 1 -239314 Simple 374016016 G . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-14 -0.6 0.5 Uncertain significance 0 -239315 Simple 374016016 T . Uncertain significance 2 3 Colorectal cancer 10;not specified 2017-06-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -239316 Simple 878854544 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-18 -6.0 0.5 Likely benign 0 -239318 Simple 757740787 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -9.0 0.3333333333333333 Benign/Likely benign 1 -239321 Simple 770495723 T . Benign/Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-25 -8.7 1.0 Benign/Likely benign 0 -239322 Simple 878854547 C . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -11.7 1.0 Benign/Likely benign 1 -239325 Simple 3218774 A . Benign/Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -11.7 0.6666666666666666 Benign/Likely benign 0 -239328 Simple 766451656 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -239329 Simple 369613619 A . Benign/Likely benign 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -17.7 0.6 Benign/Likely benign 0 -239330 Simple 111698572 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-01 -5.7 1.0 Likely benign 0 -239332 Simple 373910727 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-21 -5.7 1.0 Likely benign 0 -239338 Simple 3219457 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-01 -0.6 0.0 Uncertain significance 0 -239342 Simple 745737815 C . Uncertain significance 2 2 Colorectal cancer 10;not specified 2016-12-17 -0.5700000000000001 1.5 Uncertain significance 0 -239344 Simple 3218768 T . Benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -22.8 1.25 Benign/Likely benign 1 -239345 Simple 780604625 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-25 -0.6 0.5 Uncertain significance 0 -239346 Simple 747614571 T . Uncertain significance 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -1.17 0.75 Uncertain significance 0 -239347 Simple 781132734 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-08-02 -0.6 0.5 Uncertain significance 0 -239349 Simple 774568050 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -239352 Simple 141976385 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -0.87 1.0 Uncertain significance 0 -239354 Simple 150702648 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-13 -5.7 1.0 Likely benign 0 -239355 Simple 374937343 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -8.7 0.6666666666666666 Benign/Likely benign 1 -239357 Simple 377690809 T . Uncertain significance 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.2 0.25 Uncertain significance 0 -239358 Simple 878854554 C . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2016-06-27 -8.4 1.6666666666666667 Benign/Likely benign 1 -239360 Simple 147881471 T . Benign/Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -11.7 0.6666666666666666 Benign/Likely benign 0 -239361 Simple 78996304 A . Benign/Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -11.7 0.6666666666666666 Benign/Likely benign 0 -239362 Simple 377058651 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -8.7 0.6666666666666666 Benign/Likely benign 1 -239363 Simple 377058651 C . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-04-07 -5.7 1.5 Likely benign 0 -239364 Simple 199622672 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -8.7 0.6666666666666666 Benign/Likely benign 1 -239372 Simple 773148463 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2016-03-26 -8.4 1.6666666666666667 Benign/Likely benign 1 -239374 Simple 201946114 C . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-11-03 -11.7 0.75 Benign/Likely benign 1 -239375 Simple 142407935 C . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-03 -5.7 1.0 Likely benign 0 -239376 Simple 878854559 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-05-03 -5.7 1.5 Likely benign 0 -239378 Simple 200144991 A . Benign/Likely benign 2 5 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -18.0 0.2 Benign/Likely benign 0 -239380 Simple 146404260 T . Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -239381 Simple 1803241 T . Benign/Likely benign 2 3 Carney complex, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.3333333333333333 Benign/Likely benign 0 -239385 Simple 117639566 A . Likely benign 2 4 Carney complex, type 1;Carney complex;Hereditary cancer-predisposing syndrome;Acrodysostosis 2017-05-04 -12.0 0.5 Benign/Likely benign 1 -239390 Simple 142476093 C . Likely benign 2 2 Hereditary pancreatitis;not specified 2017-02-06 -6.0 1.0 Likely benign 0 -239391 Simple 6666 C . Benign 2 1 Hereditary pancreatitis;not specified 2017-08-15 . 0.0 . 0 -239394 Simple 753862052 TATA . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-11-28 20.4 0.5 Pathogenic 1 -239401 Simple 28363257 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-10-25 -0.5700000000000001 1.5 Uncertain significance 0 -239403 Simple 751833940 T . Likely benign 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-05-16 -8.7 1.0 Benign/Likely benign 1 -239405 Simple 761290755 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.2 0.25 Uncertain significance 0 -239411 Simple 184201084 A . Benign/Likely benign 2 3 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome 2017-07-18 -12.0 0.6666666666666666 Benign/Likely benign 0 -239415 Simple 115606026 T . Benign/Likely benign 2 2 Capillary malformation-arteriovenous malformation;not specified 2017-03-13 -9.0 0.5 Benign/Likely benign 0 -239420 Simple 143058777 T . Likely benign 2 5 Gastrointestinal stromal tumor;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4;Pheochromocytoma;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -239428 Simple 878854576 T . Likely pathogenic 2 2 Paragangliomas 4;Hereditary cancer-predisposing syndrome 2017-04-14 5.7 1.0 Likely pathogenic 0 -239429 Simple 140178341 C . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.0 Uncertain significance 0 -239430 Simple 200868378 A . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -239433 Simple 150437793 T . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2016-07-26 -0.5700000000000001 1.5 Uncertain significance 0 -239437 Simple 878854578 G . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.5 Uncertain significance 0 -239438 Simple 878854579 C . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.0 Uncertain significance 0 -239443 Simple 786203251 T . Pathogenic/Likely pathogenic 2 3 Paragangliomas 4;not provided;Hereditary cancer-predisposing syndrome 2017-07-14 15.0 0.0 Pathogenic 1 -239446 Simple 772450693 A . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 3;Hereditary cancer-predisposing syndrome 2017-08-31 -0.6 0.0 Uncertain significance 0 -239447 Simple 36097930 A . Benign/Likely benign 2 4 Gastrointestinal stromal tumor;Pheochromocytoma;Paragangliomas 3;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -11.4 1.0 Benign/Likely benign 0 -239453 Simple 760678574 C . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 3;not specified 2016-06-16 -0.5700000000000001 1.5 Uncertain significance 0 -239462 Simple 200895313 A . Likely benign 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;not specified;Cowden syndrome 3 2017-08-14 -6.0 0.0 Likely benign 0 -239468 Simple 199869408 T . Uncertain significance 2 3 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;not specified;Cowden syndrome 3 2017-07-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -239478 Simple 569206617 A . Benign/Likely benign 2 1 Shprintzen-Goldberg syndrome;not specified 2016-03-27 . 1.0 . 0 -239482 Simple 141275968 T . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -15.0 0.0 Benign/Likely benign 0 -239483 Simple 34746244 T . Benign/Likely benign 2 5 Rhabdoid tumor predisposition syndrome 1;not specified;Coffin-Siris syndrome;Schwannomatosis;Rhabdoid tumor 2017-08-11 -18.0 0.6 Benign/Likely benign 0 -239484 Simple 35105793 G . Benign 2 2 Rhabdoid tumor predisposition syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -12.0 0.5 Benign/Likely benign 1 -239488 Simple 144057094 A . Likely benign 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-06-06 -6.0 0.0 Likely benign 0 -239489 Simple 62622817 A . Benign/Likely benign 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -239491 Simple 143363725 T . Likely benign 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.0 Likely benign 0 -239493 Simple 149613910 A . Benign/Likely benign 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-07-21 -9.0 0.5 Benign/Likely benign 0 -239498 Simple 116747979 A . Benign/Likely benign 2 3 Long QT syndrome;Romano-Ward syndrome 2017-06-12 -12.0 0.6666666666666666 Benign/Likely benign 0 -239501 Simple 878854606 - . Pathogenic/Likely pathogenic 2 2 Spastic paraplegia 7;not provided 2017-06-30 8.7 1.0 Pathogenic/Likely pathogenic 0 -239507 Simple 17107318 G . Benign, risk factor 2 1 Hereditary pancreatitis;not specified 2016-11-08 . 1.0 . 0 -239508 Simple 199929811 A . Benign/Likely benign 2 2 Hereditary pancreatitis;not provided 2017-06-27 -9.0 0.0 Benign/Likely benign 0 -239516 Simple 4252345 C . Benign/Likely benign 2 4 not specified;Loeys-Dietz syndrome 4;Cardiovascular phenotype;Cardiomyopathy, ARVC 2017-08-08 -20.4 1.0 Benign/Likely benign 0 -239517 Simple 4252315 A . Likely benign 2 2 not specified;Loeys-Dietz syndrome 4 2016-11-04 -5.7 1.5 Likely benign 0 -239518 Simple 143612445 A . Benign/Likely benign 2 2 not specified;Loeys-Dietz syndrome 4 2017-06-21 -9.0 0.0 Benign/Likely benign 0 -239520 Simple 201453600 C . Uncertain significance 2 3 not specified;Loeys-Dietz syndrome 4;Cardiomyopathy, ARVC 2017-07-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -239525 Simple 181651384 A . Benign/Likely benign 2 2 Left-right axis malformations;Heterotaxy syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -239530 Simple 140662877 A . Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-19 -8.7 1.0 Benign/Likely benign 1 -239539 Simple 10126585 A . Benign 2 1 Heterotaxy, visceral, X-linked;not specified 2015-12-16 . 2.0 . 0 -239540 Simple 780917755 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified 2017-05-15 -0.6 0.5 Uncertain significance 0 -239545 Simple 148239437 C . Benign 2 2 Joubert syndrome;Oral-facial-digital syndrome;not specified 2017-06-30 -12.0 0.5 Benign/Likely benign 1 -239548 Simple 45614536 A . Uncertain significance 2 2 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified 2016-08-05 -0.5700000000000001 1.5 Uncertain significance 0 -239585 Simple 371301968 T . Benign/Likely benign 2 2 Holoprosencephaly sequence;not specified;Holoprosencephaly 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -239587 Simple 73810366 A . Benign 2 2 Congenital central hypoventilation;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -239588 Simple 17879258 C . Likely benign 2 4 Congenital central hypoventilation;Neuroblastoma;Hereditary cancer-predisposing syndrome 2017-06-29 -11.4 1.25 Benign/Likely benign 1 -239590 Simple 757020181 . . Benign/Likely benign 2 2 Congenital central hypoventilation;Hereditary cancer-predisposing syndrome 2017-09-08 -9.0 0.0 Benign/Likely benign 0 -239592 Simple 17882335 T . Benign/Likely benign 2 5 Congenital central hypoventilation;Neuroblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -24.0 0.6 Benign 1 -239593 Simple 17879189 . . Benign/Likely benign 2 3 Congenital central hypoventilation;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -15.0 0.3333333333333333 Benign/Likely benign 0 -239595 Simple 761018157 - . Benign/Likely benign 2 3 Congenital central hypoventilation;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -12.0 0.3333333333333333 Benign/Likely benign 0 -239598 Simple 770202940 C . Uncertain significance 2 3 Duchenne muscular dystrophy;not specified 2017-09-13 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -239602 Simple 181399181 A . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2016-02-15 -0.54 2.0 Uncertain significance 0 -239606 Simple 762250680 A . Pathogenic 2 2 Duchenne muscular dystrophy 2016-05-18 12.0 1.0 Pathogenic/Likely pathogenic 1 -239611 Simple 146817002 G . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2016-09-13 -0.5700000000000001 1.5 Uncertain significance 0 -239617 Simple 16908375 A . Benign 2 3 Multiple endocrine neoplasia, type 4;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia 2017-08-11 -18.0 0.6666666666666666 Benign/Likely benign 1 -239618 Simple 142940486 A . Benign 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -239622 Simple 149775942 A . Benign/Likely benign 2 4 Multiple endocrine neoplasia, type 4;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia 2017-08-04 -15.0 0.75 Benign/Likely benign 0 -239632 Simple 146144708 T . Uncertain significance 2 3 Dilated cardiomyopathy 1J;Dilated Cardiomyopathy, Dominant;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -239634 Simple 746165168 T . Pathogenic 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-10-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -239636 Simple 758426529 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.5 Uncertain significance 0 -239640 Simple 768055345 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-06-02 -0.6 0.0 Uncertain significance 0 -239642 Simple 201822097 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -239643 Simple 144473374 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-26 -5.7 1.0 Likely benign 0 -239647 Simple 878854627 - . Pathogenic/Likely pathogenic 2 2 Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-09-29 9.0 0.0 Pathogenic/Likely pathogenic 0 -239650 Simple 375194444 C . Uncertain significance 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -0.87 0.6666666666666666 Uncertain significance 0 -239651 Simple 192818312 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;not specified 2016-12-30 -0.5700000000000001 1.5 Uncertain significance 0 -239653 Simple 761927291 A . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-19 -5.7 1.0 Likely benign 0 -239655 Simple 376391115 A . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-17 -6.0 0.0 Likely benign 0 -239658 Simple 752360961 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5 2017-02-17 -0.6 1.0 Uncertain significance 0 -239661 Simple 1061517 G . Pathogenic/Likely pathogenic 2 3 Paragangliomas 5;not provided;Hereditary cancer-predisposing syndrome 2017-08-03 12.0 0.3333333333333333 Pathogenic/Likely pathogenic 0 -239666 Simple 377620054 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.0 Uncertain significance 0 -239667 Simple 768897373 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-05 -6.0 0.5 Likely benign 0 -239668 Simple 375576259 A . Uncertain significance 2 5 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-10-18 -1.5 0.8 Uncertain significance 0 -239673 Simple 765157205 C . Likely benign 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified 2017-04-10 -9.0 0.6666666666666666 Benign/Likely benign 1 -239683 Simple 140243793 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-24 -6.0 0.5 Likely benign 0 -239687 Simple 752532780 A . Uncertain significance 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -239696 Simple 148912524 T . Benign/Likely benign 2 2 Baller-Gerold syndrome;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -239715 Simple 563222200 G . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2017-07-19 -0.6 0.0 Uncertain significance 0 -239737 Simple 201661055 T . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2016-01-25 -0.54 2.0 Uncertain significance 0 -239738 Simple 758738837 GGTGCAGGTGCA . Likely benign 2 3 Baller-Gerold syndrome;not specified;not provided 2017-01-26 -8.7 1.3333333333333333 Benign/Likely benign 1 -239755 Simple 199543866 A . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2017-10-30 -0.6 0.0 Uncertain significance 0 -239761 Simple 201369291 T . Benign 2 2 Baller-Gerold syndrome;not specified 2017-06-20 -11.4 1.0 Benign/Likely benign 1 -239770 Simple 201384843 A . Benign/Likely benign 2 1 Baller-Gerold syndrome;not specified 2017-08-08 . 0.0 . 0 -239776 Simple 116137512 C . Benign 2 1 Baller-Gerold syndrome;not specified 2017-08-07 . 0.0 . 0 -239780 Simple 35639991 C . Benign/Likely benign 2 2 Baller-Gerold syndrome;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -239790 Simple 199700646 C . Uncertain significance 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-05-19 -0.5700000000000001 1.0 Uncertain significance 0 -239791 Simple 74830770 A . Benign/Likely benign 2 2 Neuroblastoma 3;not specified 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -239799 Simple 145780832 A . Benign/Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-04-20 -9.0 0.5 Benign/Likely benign 0 -239800 Simple 77102810 A . Benign/Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -239801 Simple 55733526 A . Benign/Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -239806 Simple 142126984 A . Likely benign 2 2 Neuroblastoma 3;Hereditary cancer-predisposing syndrome 2017-08-08 -6.0 0.5 Likely benign 0 -239807 Simple 145271283 A . Benign/Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-05-25 -9.0 0.5 Benign/Likely benign 0 -239809 Simple 150557024 A . Benign/Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-06-26 -9.0 0.5 Benign/Likely benign 0 -239811 Simple 138668699 A . Benign/Likely benign 2 3 Neuroblastoma 3;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-04-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -239824 Simple 56071005 A . Benign/Likely benign 2 5 Neuroblastoma 3;not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-08 -21.0 0.8 Benign/Likely benign 0 -239825 Simple 200585833 A . Uncertain significance 2 2 Neuroblastoma 3;Hereditary cancer-predisposing syndrome 2017-03-27 -0.5700000000000001 1.0 Uncertain significance 0 -239826 Simple 56247462 T . Benign/Likely benign 2 2 Neuroblastoma 3;Hereditary cancer-predisposing syndrome 2016-12-14 -9.0 1.0 Benign/Likely benign 0 -239827 Simple 56247462 G . Benign/Likely benign 2 3 Neuroblastoma 3;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -239829 Simple 373764155 GGAGGA . Benign/Likely benign 2 2 Neuroblastoma 3;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -239830 Simple 3738869 C . Benign/Likely benign 2 3 Neuroblastoma 3;not specified;Neuroblastoma Susceptibility 2017-07-24 -12.0 0.6666666666666666 Benign/Likely benign 0 -239833 Simple 55772745 G . Benign/Likely benign 2 3 Neuroblastoma 3;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-15 -15.0 0.6666666666666666 Benign/Likely benign 0 -239839 Simple 755556501 - . Uncertain significance 2 2 Neuroblastoma 3;not specified 2017-06-28 -0.6 0.5 Uncertain significance 0 -239846 Simple 78174819 T . Benign/Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -239848 Simple 115392387 G . Benign/Likely benign 2 3 Neuroblastoma 3;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-11 -15.0 0.6666666666666666 Benign/Likely benign 0 -239853 Simple 757333646 G . Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-09 -11.7 1.0 Benign/Likely benign 1 -239855 Simple 878854663 A . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2016-02-25 -0.54 2.0 Uncertain significance 0 -239857 Simple 750840234 G . Uncertain significance 2 4 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -1.2 0.75 Uncertain significance 0 -239861 Simple 200115604 A . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-21 -0.87 0.6666666666666666 Uncertain significance 0 -239862 Simple 878854668 T . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -239872 Simple 564350060 T . Benign/Likely benign 2 2 Hereditary diffuse gastric cancer;not specified 2016-02-24 -8.100000000000001 2.0 Likely benign 1 -239873 Simple 771652165 T . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -9.0 0.6666666666666666 Benign/Likely benign 1 -239874 Simple 587776398 C . Likely benign 2 4 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-11-15 -11.4 1.5 Benign/Likely benign 1 -239877 Simple 779630879 C . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-10-05 -12.0 1.0 Benign/Likely benign 1 -239879 Simple 139937234 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-01 -6.0 1.0 Likely benign 0 -239883 Simple 786201262 A . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-22 -8.7 1.0 Benign/Likely benign 1 -239884 Simple 771551231 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-08 -0.87 1.0 Uncertain significance 0 -239885 Simple 747783435 T . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-12-20 -8.7 1.3333333333333333 Benign/Likely benign 1 -239887 Simple 759536558 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-11-14 -0.6 1.0 Uncertain significance 0 -239891 Simple 876658932 T . Pathogenic 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -239892 Simple 878854683 - . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -1.2 0.75 Uncertain significance 0 -239893 Simple 777078601 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.0 Uncertain significance 0 -239895 Simple 761471987 C . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-16 -5.7 1.0 Likely benign 0 -239897 Simple 878854686 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-31 -0.5700000000000001 1.0 Uncertain significance 0 -239898 Simple 754360330 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-07-12 -5.7 1.5 Likely benign 0 -239901 Simple 878854688 C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.0 Uncertain significance 0 -239902 Simple 878854689 C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-04-12 -0.5700000000000001 1.5 Uncertain significance 0 -239906 Simple 878854691 A . Pathogenic/Likely pathogenic 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-26 9.0 0.0 Pathogenic/Likely pathogenic 0 -239907 Simple 748783182 C . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -1.2 0.25 Uncertain significance 0 -239908 Simple 761753486 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -11.7 0.5 Benign/Likely benign 1 -239910 Simple 878854693 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;not specified 2015-12-06 -0.54 2.0 Uncertain significance 0 -239916 Simple 745807727 G . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-04-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -239923 Simple 752254340 T . Benign/Likely benign 2 2 Acute myeloid leukemia;not specified 2017-08-09 -9.0 0.0 Benign/Likely benign 0 -239926 Simple 535980233 T . Uncertain significance 2 2 Acute myeloid leukemia;not specified 2017-07-31 -0.6 0.5 Uncertain significance 0 -239931 Simple 557474218 AA . Benign/Likely benign 2 3 Weaver syndrome;not specified 2017-07-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -239934 Simple 182950534 G . Benign 2 2 Wilms tumor 1;not specified 2017-08-08 -12.0 0.5 Benign/Likely benign 1 -239939 Simple 751413609 - . Benign/Likely benign 2 1 Wilms tumor 1;not specified 2017-07-17 . 0.0 . 0 -239946 Simple 61754633 G . Benign/Likely benign 2 2 Wilms tumor 1;not specified 2017-07-03 -9.0 0.5 Benign/Likely benign 0 -239961 Simple 878854713 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-03 -0.6 0.5 Uncertain significance 0 -239969 Simple 17880082 T . Uncertain significance 2 2 Fanconi anemia;not specified 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -239974 Simple 146249973 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-15 -0.6 0.5 Uncertain significance 0 -239980 Simple 376630432 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome 2017-06-21 -6.0 0.5 Likely benign 0 -239983 Simple 369864600 T . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-10-05 -6.0 0.0 Likely benign 0 -239984 Simple 9914661 A . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -239985 Simple 878854721 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-05-15 -6.0 0.0 Likely benign 0 -239986 Simple 764640447 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-01-31 -0.51 2.5 Uncertain significance 0 -239988 Simple 570443161 TGGTGGTGGTGG . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-25 -0.6 0.0 Uncertain significance 0 -239989 Simple 367697282 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-27 -0.6 0.0 Uncertain significance 0 -239990 Simple 376936740 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome 2017-06-23 -0.6 0.5 Uncertain significance 0 -239992 Simple 188003998 T . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-01-07 -5.4 2.0 Likely benign 0 -239993 Simple 761539571 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-04-11 -0.6 0.5 Uncertain significance 0 -239994 Simple 199931425 A . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-03 -8.4 1.0 Benign/Likely benign 0 -239995 Simple 148951121 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-15 -0.6 0.5 Uncertain significance 0 -239996 Simple 373442399 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-06-28 -0.6 0.5 Uncertain significance 0 -240001 Simple 377642903 T . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-11-09 -9.0 0.0 Benign/Likely benign 0 -240006 Simple 765845684 G . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-27 -0.6 0.5 Uncertain significance 0 -240009 Simple 878854725 T . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-03-28 -6.0 0.5 Likely benign 0 -240010 Simple 139209450 A . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -240014 Simple 143905290 C . Likely benign 2 2 Oligodontia-colorectal cancer syndrome 2017-06-30 -6.0 0.5 Likely benign 0 -240019 Simple 761972319 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-11-09 -6.0 1.0 Likely benign 0 -240020 Simple 370257532 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-09-06 -0.6 0.0 Uncertain significance 0 -240022 Simple 111470596 T . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-24 -6.0 0.0 Likely benign 0 -240026 Simple 752081909 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome 2017-03-15 -0.6 0.5 Uncertain significance 0 -240034 Simple 142103235 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-04-10 -6.0 0.5 Likely benign 0 -240038 Simple 374479599 C . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-19 -6.0 0.5 Likely benign 0 -240041 Simple 369744075 G . Benign/Likely benign 2 4 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -14.7 1.0 Benign/Likely benign 0 -240042 Simple 201844078 A . Uncertain significance 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -240045 Simple 115109161 T . Benign/Likely benign 2 4 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-09 -14.7 1.0 Benign/Likely benign 0 -240050 Simple 150945583 G . Benign/Likely benign 2 4 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -18.0 0.5 Benign/Likely benign 0 -240053 Simple 151308667 T . Uncertain significance 2 2 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-10-30 -0.6 0.0 Uncertain significance 0 -240054 Simple 148624125 G . Benign/Likely benign 2 5 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -17.7 1.0 Benign/Likely benign 0 -240055 Simple 149499021 A . Benign/Likely benign 2 6 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -29.4 0.8333333333333334 Benign 1 -240056 Simple 754513396 A . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2016-05-13 -8.7 1.3333333333333333 Benign/Likely benign 1 -240057 Simple 117382883 T . Benign/Likely benign 2 4 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-24 -20.4 1.0 Benign/Likely benign 0 -240060 Simple 148631953 T . Benign/Likely benign 2 5 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -17.7 1.0 Benign/Likely benign 0 -240061 Simple 143901408 G . Benign/Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-24 -14.7 1.0 Benign/Likely benign 0 -240062 Simple 200285587 A . Benign/Likely benign 2 4 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-21 -17.7 1.0 Benign/Likely benign 0 -240067 Simple 35003777 T . Benign/Likely benign 2 5 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-07-30 -23.4 0.8 Benign/Likely benign 0 -240068 Simple 777664260 A . Uncertain significance 2 4 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-08-11 -1.2 0.25 Uncertain significance 0 -240070 Simple 143659795 A . Benign/Likely benign 2 4 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-08-14 -17.7 1.0 Benign/Likely benign 0 -240084 Simple 17215423 G . Benign 2 2 Spinocerebellar ataxia 19;not specified 2017-08-05 -12.0 0.5 Benign/Likely benign 1 -240087 Simple 113247976 T . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-07-11 -15.0 0.6666666666666666 Benign/Likely benign 0 -240091 Simple 113144521 C . Benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-07-26 -11.4 1.0 Benign/Likely benign 1 -240096 Simple 370195616 T . Likely benign 2 2 FG syndrome;not specified 2017-01-12 -5.7 1.5 Likely benign 0 -240117 Simple 34089805 A . Benign 2 2 Long QT syndrome 1;not specified 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -240118 Simple 35617141 T . Benign 2 2 Long QT syndrome 1;not specified 2017-07-21 -12.0 0.5 Benign/Likely benign 1 -240121 Simple 142704935 T . Benign/Likely benign 2 2 not provided;Rasopathy 2017-06-12 -9.0 0.5 Benign/Likely benign 0 -240124 Simple 3136056 T . Benign/Likely benign 2 2 Xeroderma pigmentosum, group F;Cockayne syndrome;Xeroderma pigmentosum;not specified;Fanconi anemia, complementation group Q 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -240125 Simple 3136042 T . Benign 2 2 Xeroderma pigmentosum, group F;Cockayne syndrome;not specified;Fanconi anemia, complementation group Q 2017-06-29 -11.4 1.0 Benign/Likely benign 1 -240127 Simple 143026087 T . Benign/Likely benign 2 2 not specified;Atrioventricular septal defect 5 2017-07-27 -9.0 0.0 Benign/Likely benign 0 -240129 Simple 117646477 G . Benign 2 2 not specified;Atrioventricular septal defect 5 2016-05-30 -11.4 1.5 Benign/Likely benign 1 -240140 Simple 878854762 G . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-01-04 -6.0 1.0 Likely benign 0 -240144 Simple 751732234 T . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-07-28 -8.7 1.3333333333333333 Benign/Likely benign 1 -240145 Simple 878854766 A . Likely benign 2 2 Juvenile polyposis syndrome;not specified 2016-10-31 -5.7 1.5 Likely benign 0 -240147 Simple 774480995 G . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-04-05 -8.7 1.0 Benign/Likely benign 1 -240149 Simple 757211048 C . Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-02 -11.7 1.25 Benign/Likely benign 1 -240150 Simple 770798845 T . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-02-22 -0.5700000000000001 1.5 Uncertain significance 0 -240155 Simple 370176106 T . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -1.2 0.25 Uncertain significance 0 -240163 Simple 534746330 G . Uncertain significance 2 2 not specified 2016-10-14 -0.5700000000000001 1.5 Uncertain significance 0 -240172 Simple 571671463 C . Benign 2 3 Brugada syndrome 8;not specified 2017-07-10 -16.8 1.3333333333333333 Benign/Likely benign 1 -240173 Simple 745880598 A . Uncertain significance 2 2 Brugada syndrome 8;Hypertrophic cardiomyopathy 2017-04-30 -0.5700000000000001 1.0 Uncertain significance 0 -240183 Simple 878854775 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-11-07 -6.0 1.0 Likely benign 0 -240190 Simple 772483607 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-09-14 -5.7 1.5 Likely benign 0 -240192 Simple 45532933 T . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2017-02-11 -9.0 1.0 Benign/Likely benign 0 -240193 Simple 144028452 C . Benign 2 2 not specified;Spastic paraplegia 2017-04-22 -12.0 0.5 Benign/Likely benign 1 -240194 Simple 139232850 C . Benign 2 2 not specified;Spastic paraplegia 2017-06-27 -12.0 0.5 Benign/Likely benign 1 -240195 Simple 143916832 T . Benign/Likely benign 2 4 Creatine deficiency, X-linked;not specified 2017-07-20 -20.4 0.75 Benign/Likely benign 0 -240197 Simple 199856844 T . Uncertain significance 2 2 not specified;Rasopathy 2016-10-19 -0.5700000000000001 1.5 Uncertain significance 0 -240212 Simple 878854785 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-02 -5.7 1.0 Likely benign 0 -240216 Simple 747324016 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-03 -0.6 1.0 Uncertain significance 0 -240219 Simple 749466673 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-03-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -240220 Simple 763432574 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-28 -0.5700000000000001 1.5 Uncertain significance 0 -240223 Simple 757669763 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-11-25 -5.7 1.5 Likely benign 0 -240226 Simple 878854791 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-02-27 -5.4 2.0 Likely benign 0 -240232 Simple 781678144 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-11-02 -0.5700000000000001 1.0 Uncertain significance 0 -240233 Simple 878854796 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-06 -0.5700000000000001 1.0 Uncertain significance 0 -240234 Simple 749322677 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-04-19 -0.5700000000000001 1.5 Uncertain significance 0 -240236 Simple 878854798 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-12 -5.7 1.0 Likely benign 0 -240238 Simple 878854799 - . Pathogenic/Likely pathogenic 2 2 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-07-07 9.0 0.0 Pathogenic/Likely pathogenic 0 -240240 Simple 768985477 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-03-23 -0.5700000000000001 1.0 Uncertain significance 0 -240241 Simple 878854801 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -240243 Simple 767384027 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-03-28 -5.7 1.0 Likely benign 0 -240245 Simple 878854804 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-10 -5.7 1.0 Likely benign 0 -240254 Simple 146305558 T . Uncertain significance 2 2 Long QT syndrome;not specified 2016-06-22 -0.6 1.0 Uncertain significance 0 -240271 Simple 370620091 T . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-01 -6.0 0.0 Likely benign 0 -240283 Simple 9398723 T . Uncertain significance 2 2 Catecholaminergic polymorphic ventricular tachycardia 2017-04-04 -0.6 0.5 Uncertain significance 0 -240288 Simple 118102196 A . Benign/Likely benign 2 4 Leukodystrophy, hypomyelinating, 6;Dystonia;not specified 2017-06-15 -18.0 0.75 Benign/Likely benign 0 -240304 Simple 56026726 A . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-08-15 -12.0 0.6666666666666666 Benign/Likely benign 0 -240315 Simple 55830582 A . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-08-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -240319 Simple 199902153 T . Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -240322 Simple 35805947 T . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-08-08 -12.0 0.6666666666666666 Benign/Likely benign 0 -240335 Simple 140725151 A . Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-07-17 -9.0 0.6666666666666666 Benign/Likely benign 1 -240343 Simple 55996208 A . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-08-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -240347 Simple 148629782 T . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-07-17 -12.0 0.6666666666666666 Benign/Likely benign 0 -240370 Simple 5744760 C . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-14 -20.4 0.75 Benign/Likely benign 0 -240374 Simple 141396559 C . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -240376 Simple 369889926 T . Benign/Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-04-28 -8.7 1.0 Benign/Likely benign 0 -240378 Simple 199746481 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.0 Uncertain significance 0 -240380 Simple 753999122 - . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -240381 Simple 878854840 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-06-02 -0.5700000000000001 1.5 Uncertain significance 0 -240382 Simple 537816213 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-19 -5.7 1.0 Likely benign 0 -240383 Simple 5744734 T . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-14 -17.4 0.5 Benign/Likely benign 0 -240384 Simple 745356467 A . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-11-04 -0.87 1.3333333333333333 Uncertain significance 0 -240385 Simple 878854841 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-21 -0.6 0.0 Uncertain significance 0 -240387 Simple 116573514 T . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-17 -20.4 0.75 Benign/Likely benign 0 -240389 Simple 139836643 A . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-08-14 -12.0 0.0 Benign/Likely benign 0 -240390 Simple 878854842 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-08-25 -0.5700000000000001 1.5 Uncertain significance 0 -240392 Simple 368303888 A . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-03 -11.7 0.6666666666666666 Benign/Likely benign 0 -240393 Simple 369961557 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-09 -8.4 1.3333333333333333 Benign/Likely benign 1 -240397 Simple 116263919 A . Uncertain significance 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-20 -1.17 0.75 Uncertain significance 0 -240401 Simple 752219944 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-11 -6.0 0.5 Likely benign 0 -240402 Simple 147438050 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-11 -5.7 1.0 Likely benign 0 -240403 Simple 373000452 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-03 -0.6 0.5 Uncertain significance 0 -240407 Simple 116456858 A . Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -240410 Simple 767326433 C . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-03 -9.0 0.3333333333333333 Benign/Likely benign 1 -240411 Simple 145203544 A . Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-08 -11.7 0.5 Benign/Likely benign 1 -240415 Simple 878854847 A . Uncertain significance 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-19 -1.2 0.5 Uncertain significance 0 -240417 Simple 146986360 C . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-31 -8.7 0.6666666666666666 Benign/Likely benign 1 -240418 Simple 146986360 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -240420 Simple 766037063 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-29 -0.5700000000000001 1.5 Uncertain significance 0 -240422 Simple 5744800 A . Benign/Likely benign 2 5 not specified;not provided;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-11 -17.7 0.4 Benign/Likely benign 0 -240424 Simple 752846614 - . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-07-02 -0.6 1.0 Uncertain significance 0 -240425 Simple 5744801 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-04 -14.7 0.5 Benign/Likely benign 0 -240427 Simple 61734163 A . Uncertain significance 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-06 -1.17 0.5 Uncertain significance 0 -240428 Simple 878854849 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -240430 Simple 878854850 - . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-03-31 -0.5700000000000001 1.5 Uncertain significance 0 -240431 Simple 746774432 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-27 -0.6 0.5 Uncertain significance 0 -240432 Simple 760031526 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-03-18 -5.7 1.5 Likely benign 0 -240435 Simple 780758461 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-19 -0.6 0.5 Uncertain significance 0 -240436 Simple 374200895 T . Uncertain significance 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-17 -1.17 1.0 Uncertain significance 0 -240437 Simple 115830215 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-27 -14.7 0.75 Benign/Likely benign 0 -240439 Simple 539312991 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-26 -0.6 0.0 Uncertain significance 0 -240440 Simple 878854853 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-06-28 -5.7 1.5 Likely benign 0 -240443 Simple 758382516 G . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-13 -0.5700000000000001 1.0 Uncertain significance 0 -240445 Simple 775486303 A . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-17 -11.7 0.6666666666666666 Benign/Likely benign 0 -240446 Simple 376546593 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-10 -0.6 0.5 Uncertain significance 0 -240447 Simple 878854856 G . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-28 -6.0 0.5 Likely benign 0 -240449 Simple 5744845 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-11 -17.7 0.75 Benign/Likely benign 0 -240450 Simple 56081968 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-24 -20.4 0.5 Benign/Likely benign 0 -240454 Simple 371831931 A . Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-27 -11.7 0.5 Benign/Likely benign 1 -240457 Simple 759786460 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-08 -9.0 0.6666666666666666 Benign/Likely benign 1 -240458 Simple 759888478 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-04 -5.7 1.0 Likely benign 0 -240459 Simple 748871390 G . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-07 -5.7 1.0 Likely benign 0 -240461 Simple 201744227 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-21 -0.6 0.0 Uncertain significance 0 -240462 Simple 768202002 . . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-07-24 -8.7 1.0 Benign/Likely benign 1 -240464 Simple 193075152 C . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-07-31 -12.0 0.3333333333333333 Benign/Likely benign 0 -240465 Simple 755370377 A . Benign/Likely benign 2 2 Colorectal cancer, susceptibility to, 12 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -240467 Simple 755839896 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-12-21 -6.0 1.0 Likely benign 0 -240468 Simple 748278223 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-09-20 -5.7 1.5 Likely benign 0 -240469 Simple 754348616 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-12-07 -5.7 1.5 Likely benign 0 -240470 Simple 199773841 C . Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-19 -11.7 0.5 Benign/Likely benign 1 -240471 Simple 766426579 CC . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-02-06 -6.0 1.0 Likely benign 0 -240474 Simple 750939989 GCTGCT . Uncertain significance 2 3 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -240476 Simple 368978839 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-24 -9.0 0.6666666666666666 Benign/Likely benign 1 -240477 Simple 80290414 T . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-20 -14.7 0.75 Benign/Likely benign 0 -240487 Simple 375466233 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-14 -5.7 1.5 Likely benign 0 -240495 Simple 143981093 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Colorectal cancer 2017-07-31 -0.8999999999999999 0.0 Uncertain significance 0 -240497 Simple 756716850 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-30 -5.7 1.0 Likely benign 0 -240498 Simple 201746181 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-27 -8.7 1.0 Benign/Likely benign 1 -240501 Simple 780694561 A . Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-23 -11.7 0.75 Benign/Likely benign 1 -240503 Simple 374210113 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-21 -5.7 1.0 Likely benign 0 -240509 Simple 139498590 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-11-07 -0.6 0.0 Uncertain significance 0 -240511 Simple 878854870 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-31 -8.4 1.3333333333333333 Benign/Likely benign 1 -240512 Simple 769149466 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-11-10 -5.7 1.5 Likely benign 0 -240515 Simple 772734618 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-31 -0.6 0.5 Uncertain significance 0 -240518 Simple 5744943 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-31 -5.7 1.0 Likely benign 0 -240521 Simple 777611171 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-26 -8.7 0.6666666666666666 Benign/Likely benign 1 -240522 Simple 780775837 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-20 -0.87 1.0 Uncertain significance 0 -240523 Simple 370543622 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-07 -6.0 0.5 Likely benign 0 -240530 Simple 138564205 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-08-11 -0.87 0.6666666666666666 Uncertain significance 0 -240531 Simple 147500308 C . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-21 -6.0 0.5 Likely benign 0 -240535 Simple 138782478 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-31 -6.0 0.0 Likely benign 0 -240539 Simple 375590443 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-11 -0.6 0.0 Uncertain significance 0 -240541 Simple 776538943 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -240543 Simple 775590365 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-03-28 -0.6 0.5 Uncertain significance 0 -240545 Simple 760149463 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-09-22 -0.8999999999999999 0.0 Uncertain significance 0 -240548 Simple 878854880 C . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-05 -6.0 1.0 Likely benign 0 -240549 Simple 769284070 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-22 -6.0 0.5 Likely benign 0 -240550 Simple 114891564 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-14 -14.7 0.75 Benign/Likely benign 0 -240551 Simple 572502366 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-22 -0.6 0.5 Uncertain significance 0 -240553 Simple 780436496 C . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-31 -14.7 0.5 Benign/Likely benign 0 -240554 Simple 377461656 A . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-07 -0.87 1.0 Uncertain significance 0 -240557 Simple 115257501 A . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-26 -11.7 0.6666666666666666 Benign/Likely benign 0 -240558 Simple 537648186 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-07 -14.7 0.75 Benign/Likely benign 0 -240560 Simple 147543146 G . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-19 -14.7 0.5 Benign/Likely benign 0 -240561 Simple 780776704 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-15 -0.6 0.5 Uncertain significance 0 -240565 Simple 369506007 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-10-24 -0.6 0.0 Uncertain significance 0 -240566 Simple 5744972 G . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-11 -17.7 0.75 Benign/Likely benign 0 -240567 Simple 377662540 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-10-31 -0.6 0.5 Uncertain significance 0 -240568 Simple 143938822 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-28 -14.7 0.75 Benign/Likely benign 0 -240569 Simple 374022997 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-27 -0.6 0.0 Uncertain significance 0 -240571 Simple 201455049 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-20 -0.6 0.5 Uncertain significance 0 -240572 Simple 541999794 G . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-16 -5.7 1.0 Likely benign 0 -240575 Simple 745976640 - . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-26 -6.0 0.0 Likely benign 0 -240576 Simple 878854885 - . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -240579 Simple 878854888 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-09-15 -6.0 1.0 Likely benign 0 -240581 Simple 371563366 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-25 -8.7 1.0 Benign/Likely benign 1 -240583 Simple 771628123 A . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-04-21 -0.87 1.0 Uncertain significance 0 -240584 Simple 181570274 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-12-26 -0.6 1.0 Uncertain significance 0 -240585 Simple 754324470 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-11 -8.7 1.0 Benign/Likely benign 1 -240591 Simple 769766403 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-07-11 -9.0 0.6666666666666666 Benign/Likely benign 1 -240592 Simple 373443211 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-13 -0.6 0.5 Uncertain significance 0 -240598 Simple 114778730 A . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-24 -11.7 0.6666666666666666 Benign/Likely benign 0 -240600 Simple 375256819 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-03 -5.7 1.5 Likely benign 0 -240603 Simple 368555884 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-03 -8.7 1.0 Benign/Likely benign 1 -240604 Simple 147611144 A . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-13 -11.7 0.6666666666666666 Benign/Likely benign 0 -240607 Simple 11146982 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-11 -5.7 1.0 Likely benign 0 -240609 Simple 375333174 G . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-10-16 -6.0 0.0 Likely benign 0 -240610 Simple 777438368 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-05 -8.7 0.6666666666666666 Benign/Likely benign 1 -240612 Simple 538875477 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-10-30 -0.6 0.0 Uncertain significance 0 -240613 Simple 878854896 - . Uncertain significance 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-26 -1.5 0.6 Uncertain significance 0 -240615 Simple 376923206 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-13 -8.7 0.6666666666666666 Benign/Likely benign 1 -240616 Simple 375741031 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-09-26 -0.6 0.0 Uncertain significance 0 -240618 Simple 73155056 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-03-18 -0.5700000000000001 1.5 Uncertain significance 0 -240619 Simple 142222159 A . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-27 -11.7 0.6666666666666666 Benign/Likely benign 0 -240621 Simple 73481453 A . Benign/Likely benign 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-28 -26.4 0.6 Benign 1 -240622 Simple 148788180 C . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-10 -14.7 0.5 Benign/Likely benign 0 -240623 Simple 146592584 A . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-07-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -240626 Simple 61751359 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-04-11 -5.7 1.5 Likely benign 0 -240627 Simple 149345392 C . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-10 -8.7 0.6666666666666666 Benign/Likely benign 1 -240629 Simple 115786159 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-01-20 -0.6 1.0 Uncertain significance 0 -240631 Simple 878854897 G . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-15 -9.0 0.6666666666666666 Benign/Likely benign 1 -240632 Simple 5744758 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-04 -17.4 0.75 Benign/Likely benign 0 -240638 Simple 75650199 G . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified;Aortic aneurysm, familial thoracic 8 2017-08-08 -11.7 0.6666666666666666 Benign/Likely benign 0 -240639 Simple 141218982 C . Benign 2 2 not specified;Aortic aneurysm, familial thoracic 8 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -240642 Simple 55754654 T . Benign/Likely benign 2 4 Thoracic aortic aneurysm and aortic dissection;not specified;Aortic aneurysm, familial thoracic 8 2017-08-03 -20.7 1.0 Benign/Likely benign 0 -240647 Simple 150000482 T . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2017-09-20 -0.5700000000000001 1.0 Uncertain significance 0 -240648 Simple 146673676 A . Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2016-03-04 -5.4 2.0 Likely benign 0 -240653 Simple 148092370 A . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-06-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -240654 Simple 35099271 A . Benign 2 3 Primary dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-08-08 -17.4 1.0 Benign/Likely benign 1 -240658 Simple 187065627 A . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-07-03 -12.0 0.6666666666666666 Benign/Likely benign 0 -240660 Simple 199609750 G . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-12-07 -0.6 1.0 Uncertain significance 0 -240667 Simple 73062575 T . Benign 2 2 Brugada syndrome;not specified 2017-08-03 -12.0 0.5 Benign/Likely benign 1 -240671 Simple 142884499 A . Uncertain significance 2 2 Brugada syndrome;not specified 2017-07-10 -0.6 0.0 Uncertain significance 0 -240676 Simple 34314583 A . Benign/Likely benign 2 2 Brugada syndrome;not specified 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -240679 Simple 77804526 T . Benign 2 2 Brugada syndrome;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -240680 Simple 116353929 A . Benign 2 2 Brugada syndrome;not specified 2017-08-08 -12.0 0.5 Benign/Likely benign 1 -240691 Simple 145191932 T . Benign/Likely benign 2 3 Spastic paraplegia 39;not specified;not provided 2017-07-04 -11.7 0.6666666666666666 Benign/Likely benign 0 -240692 Simple 62111288 G . Benign 2 2 Spastic paraplegia 39;not specified 2017-07-20 -12.0 0.5 Benign/Likely benign 1 -240693 Simple 116788699 T . Benign 2 2 Spastic paraplegia 39;not specified 2016-12-07 -11.4 1.5 Benign/Likely benign 1 -240703 Simple 112732576 C . Benign/Likely benign 2 3 Spastic paraplegia 39;Mucolipidosis type IV;Spastic Paraplegia, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -240705 Simple 150153477 G . Benign/Likely benign 2 2 Mental retardation, autosomal dominant 5;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -240711 Simple 113867009 C . Benign 2 2 not specified 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -240725 Simple 371207635 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -240726 Simple 878854908 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-12 -0.6 0.5 Uncertain significance 0 -240727 Simple 878854909 A . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-03-29 11.4 1.5 Pathogenic/Likely pathogenic 1 -240730 Simple 753159426 - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-02 12.0 0.0 Pathogenic/Likely pathogenic 1 -240732 Simple 758206293 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-06 -0.5700000000000001 1.0 Uncertain significance 0 -240734 Simple 878854913 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-11 -0.6 0.5 Uncertain significance 0 -240735 Simple 749368980 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-06-20 -5.7 1.5 Likely benign 0 -240737 Simple 878854915 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -240746 Simple 876658374 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -11.4 1.0 Benign/Likely benign 1 -240747 Simple 761126328 A . Likely benign 2 2 Familial cancer of breast;not specified 2016-04-15 -5.7 1.5 Likely benign 0 -240749 Simple 767253467 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -240751 Simple 786203650 T . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-12 5.7 1.5 Likely pathogenic 0 -240753 Simple 878854922 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -240757 Simple 745745105 C . Benign/Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -20.4 0.75 Benign/Likely benign 0 -240759 Simple 771860071 - . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-25 -0.6 0.0 Uncertain significance 0 -240760 Simple 878854927 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-05 -0.5700000000000001 1.5 Uncertain significance 0 -240762 Simple 145868278 A . Likely benign 2 2 Hereditary pancreatitis 2017-06-27 -6.0 0.5 Likely benign 0 -240763 Simple 497078 A . Benign, association 2 3 Hereditary pancreatitis;not specified 2017-06-27 -18.0 0.6666666666666666 Benign/Likely benign 1 -240769 Simple 878854929 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -240771 Simple 876660558 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-10 -1.2 0.75 Uncertain significance 0 -240772 Simple 878854931 - . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-09-13 -6.0 0.0 Likely benign 0 -240774 Simple 878854933 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2016-10-18 22.8 1.75 Pathogenic 0 -240775 Simple 587780795 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -240778 Simple 878854936 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -240779 Simple 878854937 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -240783 Simple 878854940 - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2016-06-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -240784 Simple 878854941 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-11 -0.5700000000000001 1.5 Uncertain significance 0 -240791 Simple 878854947 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -240792 Simple 80357136 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-01 -0.87 1.3333333333333333 Uncertain significance 0 -240794 Simple 878854948 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome 2016-03-17 -0.5700000000000001 1.5 Uncertain significance 0 -240795 Simple 767958299 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -240797 Simple 878854949 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-27 -0.81 1.6666666666666667 Uncertain significance 0 -240801 Simple 878854951 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-26 -0.87 1.3333333333333333 Uncertain significance 0 -240803 Simple 80357130 T . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-03-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -240804 Simple 747539984 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -240805 Simple 878854952 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -240806 Simple 878854953 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -240807 Simple 878854954 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -240808 Simple 750938749 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -240809 Simple 878854955 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -240811 Simple 150729791 A . Uncertain significance 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -1.2 0.25 Uncertain significance 0 -240814 Simple 878854956 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -240815 Simple 80356974 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -240817 Simple 749319480 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -240818 Simple 878854957 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-05-19 -0.5700000000000001 1.5 Uncertain significance 0 -240820 Simple 766614917 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.87 1.0 Uncertain significance 0 -240824 Simple 878854960 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -240829 Simple 878854964 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-02-24 -0.45 3.5 Uncertain significance 0 -240830 Simple 768416164 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -240831 Simple 878854965 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-04-12 -0.6 0.5 Uncertain significance 0 -240840 Simple 11557652 T . Benign/Likely benign 2 3 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive;not specified;Sensory Neuropathy with Spastic Paraplegia 2017-08-02 -14.4 1.0 Benign/Likely benign 0 -240841 Simple 11557649 A . Benign/Likely benign 2 2 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive;Sensory Neuropathy with Spastic Paraplegia 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -240845 Simple 144075994 G . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 10 2017-06-22 -8.4 1.0 Benign/Likely benign 0 -240849 Simple 139334277 T . Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 10 2017-11-09 -6.0 0.0 Likely benign 0 -240876 Simple 878854969 C . Uncertain significance 2 2 Dilated cardiomyopathy 1W;Cardiovascular phenotype 2016-02-01 -0.54 2.0 Uncertain significance 0 -240887 Simple 201484402 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-06-28 -5.7 1.0 Likely benign 0 -240888 Simple 878854975 C . Pathogenic 2 2 Ataxia, spastic, 1, autosomal dominant;not provided;Spastic paraplegia 2016-07-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -240892 Simple 113595574 T . Benign 2 2 not specified;Spastic paraplegia 2016-09-09 -12.0 1.0 Benign/Likely benign 1 -240895 Simple 17325713 T . Benign 2 1 not specified;Spastic paraplegia 2017-08-10 . 0.0 . 0 -240897 Simple 111846884 C . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -240903 Simple 386768924 AT . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-06-16 -8.4 1.0 Benign/Likely benign 0 -240904 Simple 377657177 C . Uncertain significance 2 2 Spastic ataxia Charlevoix-Saguenay type;Spastic paraplegia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -240907 Simple 878854979 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2L;not specified 2016-11-10 -0.5700000000000001 1.5 Uncertain significance 0 -240924 Simple 62000389 A . Benign 2 2 not specified;Spastic paraplegia 49, autosomal recessive 2017-07-04 -11.4 1.0 Benign/Likely benign 1 -240925 Simple 55716270 A . Likely benign 2 2 not specified;Spastic paraplegia 49, autosomal recessive 2017-08-07 -6.0 0.0 Likely benign 0 -240927 Simple 140331779 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2016-12-29 -0.5700000000000001 1.5 Uncertain significance 0 -240930 Simple 143719918 T . Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2016-06-14 -5.7 1.5 Likely benign 0 -240935 Simple 77890266 A . Benign/Likely benign 2 3 Spastic paraplegia 48, autosomal recessive;not specified;Spastic Paraplegia, Recessive 2017-06-27 -15.0 0.6666666666666666 Benign/Likely benign 0 -240936 Simple 77560694 T . Benign/Likely benign 2 2 Spastic paraplegia 48, autosomal recessive;Spastic Paraplegia, Recessive 2017-01-09 -9.0 1.0 Benign/Likely benign 0 -240938 Simple 201478168 G . Uncertain significance 2 2 Spastic paraplegia 48, autosomal recessive;not specified 2017-06-30 -0.6 0.5 Uncertain significance 0 -240947 Simple 878854989 G . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type 2;not specified;not provided 2017-03-21 -0.87 1.0 Uncertain significance 0 -240949 Simple 189961829 T . Benign/Likely benign 2 2 Spastic paraplegia 4, autosomal dominant;not specified 2017-06-27 -8.4 1.0 Benign/Likely benign 0 -240957 Simple 117525287 G . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-07-19 -15.0 0.75 Benign/Likely benign 0 -240958 Simple 76519832 G . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-05-16 -15.0 0.75 Benign/Likely benign 0 -240959 Simple 77172218 A . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-07-30 -15.0 0.75 Benign/Likely benign 0 -240960 Simple 61999305 T . Benign/Likely benign 2 5 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;not provided;Charcot-Marie-Tooth, Type 2 2017-05-16 -18.0 0.6 Benign/Likely benign 0 -240965 Simple 571655 T . Benign 2 1 Nephronophthisis;not specified 2017-05-07 . 0.0 . 0 -240966 Simple 34373111 A . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-04-19 -12.0 0.6666666666666666 Benign/Likely benign 0 -240967 Simple 34248917 T . Benign/Likely benign 2 4 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-02-06 -18.0 1.0 Benign/Likely benign 0 -240968 Simple 17028857 T . Benign/Likely benign 2 4 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-05-16 -17.4 1.0 Benign/Likely benign 0 -240969 Simple 12084067 T . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -240972 Simple 34398445 C . Benign/Likely benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-05-04 -20.7 1.0 Benign/Likely benign 0 -240977 Simple 201819880 G . Uncertain significance 2 2 Alstrom syndrome;not provided 2017-04-03 -0.6 0.5 Uncertain significance 0 -240978 Simple 80009262 T . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-10-17 -9.0 0.0 Benign/Likely benign 0 -240979 Simple 142278066 T . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-01-11 -0.6 1.0 Uncertain significance 0 -240983 Simple 45630557 A . Benign/Likely benign 2 4 Alstrom syndrome;not specified;not provided 2017-08-01 -15.0 0.5 Benign/Likely benign 0 -240984 Simple 41291187 G . Benign/Likely benign 2 3 Alstrom syndrome;not specified;Monogenic diabetes 2017-10-27 -14.4 0.6666666666666666 Benign/Likely benign 0 -240985 Simple 201804994 G . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-10-04 -0.6 0.0 Uncertain significance 0 -240989 Simple 80133984 G . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-07-06 -9.0 0.0 Benign/Likely benign 0 -240990 Simple 76266696 G . Benign 2 2 Alstrom syndrome;not specified 2016-10-10 -12.0 1.0 Benign/Likely benign 1 -240991 Simple 143885319 T . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-06-14 -9.0 0.0 Benign/Likely benign 0 -240994 Simple 186449817 C . Likely benign 2 2 Alstrom syndrome;not specified 2017-07-10 -6.0 0.5 Likely benign 0 -240995 Simple 199649563 G . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-02-28 -0.5700000000000001 1.5 Uncertain significance 0 -240999 Simple 144720929 G . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-06-14 -9.0 0.0 Benign/Likely benign 0 -241002 Simple 78039319 C . Benign/Likely benign 2 3 Alstrom syndrome;not specified;Monogenic diabetes 2017-07-31 -14.7 1.0 Benign/Likely benign 0 -241003 Simple 200266868 T . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-07-14 -0.5700000000000001 1.0 Uncertain significance 0 -241009 Simple 77555300 T . Benign/Likely benign 2 3 Alstrom syndrome;not specified;Monogenic diabetes 2017-07-31 -14.7 1.0 Benign/Likely benign 0 -241010 Simple 28730855 G . Benign/Likely benign 2 4 Alstrom syndrome;not specified;not provided;Monogenic diabetes 2017-06-27 -14.7 0.75 Benign/Likely benign 0 -241014 Simple 142611294 G . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-06-14 -9.0 0.0 Benign/Likely benign 0 -241017 Simple 183390773 C . Likely benign 2 2 Alstrom syndrome;not specified 2017-06-29 -6.0 0.5 Likely benign 0 -241018 Simple 114687298 G . Likely benign 2 2 Alstrom syndrome;not specified 2017-06-27 -6.0 0.5 Likely benign 0 -241021 Simple 35464343 T . Benign/Likely benign 2 2 Brugada syndrome;not specified 2017-05-16 -8.7 1.0 Benign/Likely benign 0 -241026 Simple 142317242 T . Uncertain significance 2 4 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis 2016-06-14 -1.17 1.25 Uncertain significance 0 -241030 Simple 143992266 A . Benign 2 1 not specified 2017-01-19 . 1.0 . 0 -241031 Simple 140831372 T . Benign/Likely benign 2 1 not specified 2017-01-09 . 1.0 . 0 -241034 Simple 76675748 A . Benign/Likely benign 2 2 not specified;not provided 2017-02-15 -9.0 1.0 Benign/Likely benign 0 -241036 Simple 72671125 T . Benign 2 1 not specified 2017-01-10 . 1.0 . 0 -241042 Simple 147863200 C . Benign/Likely benign 2 3 Transposition of the great arteries, dextro-looped 1;not specified;not provided 2017-03-06 -11.7 1.0 Benign/Likely benign 0 -241043 Simple 150222863 T . Benign/Likely benign 2 2 Transposition of the great arteries, dextro-looped 1;not provided 2017-05-08 -9.0 0.5 Benign/Likely benign 0 -241048 Simple 878855011 - . Pathogenic 2 2 Spastic paraplegia 15;Spastic paraplegia 2016-08-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -241051 Simple 878855013 - . Pathogenic/Likely pathogenic 2 2 Spastic paraplegia 15;Spastic paraplegia 2016-08-15 9.0 1.0 Pathogenic/Likely pathogenic 0 -241057 Simple 35917338 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2016-11-24 -15.0 1.0 Benign/Likely benign 0 -241059 Simple 35106153 G . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2016-11-24 -15.0 1.0 Benign/Likely benign 0 -241075 Simple 142460913 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -241082 Simple 142029957 T . Benign 2 2 Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome 2017-07-17 -12.0 0.5 Benign/Likely benign 1 -241083 Simple 377614167 G . Uncertain significance 2 2 Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.5 Uncertain significance 0 -241088 Simple 746555296 T . Likely benign 2 2 Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome 2017-07-24 -6.0 0.0 Likely benign 0 -241096 Simple 41317142 A . Uncertain significance 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2017-09-08 -0.5700000000000001 1.0 Uncertain significance 0 -241099 Simple 117065412 A . Benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -241100 Simple 199576434 T . Benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-08-03 -12.0 0.5 Benign/Likely benign 1 -241101 Simple 144601717 T . Benign/Likely benign 2 3 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-08-11 -14.4 0.6666666666666666 Benign/Likely benign 0 -241102 Simple 34944716 G . Benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-08-04 -11.4 1.0 Benign/Likely benign 1 -241103 Simple 368853054 A . Likely benign 2 3 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-07-31 -9.0 0.3333333333333333 Benign/Likely benign 1 -241105 Simple 756762196 T . Pathogenic 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not provided 2016-09-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -241107 Simple 374541202 G . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2016-08-11 -0.5700000000000001 1.5 Uncertain significance 0 -241112 Simple 752092011 A . Likely benign 2 1 Ciliary dyskinesia, primary, 6;not specified 2016-02-16 . 2.0 . 0 -241114 Simple 760497590 T . Uncertain significance 2 2 Mast syndrome;not specified 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -241119 Simple 148331061 T . Benign 2 2 not specified;Adams-Oliver syndrome 5 2017-07-14 -12.0 0.5 Benign/Likely benign 1 -241120 Simple 878855023 AA . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-09-20 -0.6 0.0 Uncertain significance 0 -241121 Simple 61751553 T . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-06-28 -9.0 0.0 Benign/Likely benign 0 -241122 Simple 2229970 A . Benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-25 -17.4 1.0 Benign/Likely benign 1 -241123 Simple 191892426 T . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-07-28 -9.0 0.0 Benign/Likely benign 0 -241134 Simple 199892488 T . Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-06-12 -5.7 1.0 Likely benign 0 -241136 Simple 61751545 A . Benign/Likely benign 2 3 not specified;Adams-Oliver syndrome 5 2017-08-04 -14.7 1.0 Benign/Likely benign 0 -241137 Simple 376161552 T . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-08-31 -6.0 0.0 Likely benign 0 -241141 Simple 373713957 A . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-01-23 -9.0 1.0 Benign/Likely benign 0 -241146 Simple 61751538 T . Benign/Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-08-16 -11.4 1.0 Benign/Likely benign 0 -241147 Simple 35980907 A . Benign 2 2 not specified;Adams-Oliver syndrome 5 2017-07-18 -12.0 0.5 Benign/Likely benign 1 -241148 Simple 116316039 A . Benign 2 2 not specified;Adams-Oliver syndrome 5 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -241154 Simple 763584589 T . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-04-20 -6.0 0.5 Likely benign 0 -241155 Simple 2229973 A . Benign 2 2 not specified;Adams-Oliver syndrome 5 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -241157 Simple 186453356 T . Benign/Likely benign 2 3 not specified;Adams-Oliver syndrome 5 2017-08-07 -14.7 1.0 Benign/Likely benign 0 -241158 Simple 188357478 A . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-10-20 -8.4 1.0 Benign/Likely benign 0 -241159 Simple 202023246 A . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-06-11 -9.0 0.5 Benign/Likely benign 0 -241163 Simple 61751488 A . Benign/Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-31 -14.7 1.0 Benign/Likely benign 0 -241164 Simple 61751486 T . Benign 2 2 not specified;Adams-Oliver syndrome 5 2017-07-19 -12.0 0.5 Benign/Likely benign 1 -241168 Simple 372760677 A . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-09-20 -8.4 1.0 Benign/Likely benign 0 -241169 Simple 369167555 A . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-08-02 -0.6 0.0 Uncertain significance 0 -241179 Simple 78051297 T . Benign/Likely benign 2 3 Progressive familial heart block type 1B;not specified;Progressive familial heart block 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -241180 Simple 78444754 A . Benign/Likely benign 2 3 Progressive familial heart block type 1B;not specified;Progressive familial heart block 2017-08-04 -15.0 0.6666666666666666 Benign/Likely benign 0 -241182 Simple 146564314 A . Benign 2 2 Progressive familial heart block type 1B;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -241187 Simple 144635826 C . Uncertain significance 2 4 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;not provided 2017-03-31 -1.17 1.0 Uncertain significance 0 -241188 Simple 200185068 T . Uncertain significance 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-09-10 -0.5700000000000001 1.0 Uncertain significance 0 -241189 Simple 142962579 T . Benign/Likely benign 2 5 CHARGE association;Hypogonadism with anosmia;not specified 2017-07-28 -23.4 1.0 Benign/Likely benign 0 -241195 Simple 146922072 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-05-17 . 0.0 . 0 -241197 Simple 73258248 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-11 . 0.0 . 0 -241198 Simple 151227818 C . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2015-12-30 . 2.0 . 0 -241200 Simple 189816059 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-04-18 . 0.0 . 0 -241201 Simple 878855035 - . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-08-20 . 1.0 . 0 -241203 Simple 78491700 G . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-05-02 . 0.0 . 0 -241207 Simple 78581255 A . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-11-19 . 1.0 . 0 -241211 Simple 113374052 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -241213 Simple 145890370 T . Benign/Likely benign 2 3 Dyskeratosis congenita;not specified;not provided 2017-09-08 -15.0 0.3333333333333333 Benign/Likely benign 0 -241214 Simple 115334254 A . Benign/Likely benign 2 2 Dyskeratosis congenita;Dyskeratosis Congenita, Recessive 2017-07-07 -9.0 0.5 Benign/Likely benign 0 -241216 Simple 376560419 C . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-09-12 -0.6 0.0 Uncertain significance 0 -241217 Simple 114207859 A . Benign/Likely benign 2 3 Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified 2017-08-15 -15.0 0.6666666666666666 Benign/Likely benign 0 -241219 Simple 191513932 G . Benign/Likely benign 2 4 Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -14.7 1.0 Benign/Likely benign 0 -241221 Simple 752938517 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-01 -0.5700000000000001 1.0 Uncertain significance 0 -241222 Simple 369144563 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -241223 Simple 189327749 A . Benign/Likely benign 2 4 Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified 2017-08-07 -15.0 0.5 Benign/Likely benign 0 -241225 Simple 550833832 A . Benign/Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-21 -9.0 0.5 Benign/Likely benign 0 -241226 Simple 377740271 A . Benign/Likely benign 2 3 Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-08-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -241227 Simple 756818796 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -241233 Simple 62000409 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-02 . 0.0 . 0 -241238 Simple 59896146 A . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-04-05 . 0.0 . 0 -241241 Simple 78945041 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-12-20 . 1.0 . 0 -241246 Simple 149803148 G . Likely benign 2 2 Fanconi anemia;not specified 2017-04-16 -6.0 0.5 Likely benign 0 -241252 Simple 149731356 C . Benign/Likely benign 2 4 Fanconi anemia;not specified;not provided 2017-04-03 -15.0 0.5 Benign/Likely benign 0 -241270 Simple 140335642 G . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 17 2017-06-20 -12.0 0.5 Benign/Likely benign 1 -241272 Simple 9895963 A . Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 17 2017-09-18 -6.0 0.0 Likely benign 0 -241279 Simple 139778647 T . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 17 2017-06-14 -12.0 0.5 Benign/Likely benign 1 -241282 Simple 80237479 C . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-03-24 . 0.0 . 0 -241283 Simple 200291432 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -241285 Simple 761395486 C . Uncertain significance 2 2 Mental retardation, autosomal dominant 1;not specified 2017-03-30 -0.6 0.5 Uncertain significance 0 -241296 Simple 140942230 T . Likely benign 2 2 not provided;Spastic paraplegia 2017-03-22 -6.0 0.5 Likely benign 0 -241298 Simple 116557768 T . Benign 2 2 not specified;Spastic paraplegia 2016-07-06 -12.0 1.0 Benign/Likely benign 1 -241299 Simple 116691849 G . Benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-01 -11.4 1.0 Benign/Likely benign 1 -241300 Simple 190849453 T . Benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2016-09-23 -12.0 1.0 Benign/Likely benign 1 -241306 Simple 147165522 T . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-06-26 -8.7 1.0 Benign/Likely benign 0 -241307 Simple 190369242 C . Uncertain significance 2 3 Infantile-onset ascending hereditary spastic paralysis;not specified;not provided 2017-03-31 -0.87 1.0 Uncertain significance 0 -241312 Simple 3219155 T . Benign/Likely benign 2 3 Infantile-onset ascending hereditary spastic paralysis;not specified;Amyotrophic Lateral Sclerosis, Recessive 2017-06-19 -15.0 0.6666666666666666 Benign/Likely benign 0 -241313 Simple 35110478 T . Benign 2 2 Infantile-onset ascending hereditary spastic paralysis;not specified 2017-07-27 -12.0 0.5 Benign/Likely benign 1 -241316 Simple 117392855 G . Benign/Likely benign 2 2 Fanconi anemia 2017-05-26 -9.0 0.5 Benign/Likely benign 0 -241317 Simple 61745871 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-12-08 -9.0 1.0 Benign/Likely benign 0 -241323 Simple 111894696 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-04-20 -9.0 0.5 Benign/Likely benign 0 -241326 Simple 45547534 G . Benign 2 2 Fanconi anemia;not specified 2017-07-24 -12.0 0.5 Benign/Likely benign 1 -241331 Simple 113785628 T . Benign 2 2 not specified;Spastic paraplegia 2017-07-27 -12.0 0.5 Benign/Likely benign 1 -241332 Simple 142188675 T . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-04-03 -9.0 0.5 Benign/Likely benign 0 -241341 Simple 777122776 A . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2 2016-08-16 -0.8999999999999999 1.0 Uncertain significance 0 -241347 Simple 577929869 T . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-01 -8.7 1.0 Benign/Likely benign 0 -241348 Simple 201816539 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-09 -6.0 0.0 Likely benign 0 -241351 Simple 375963128 G . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-06-21 -5.7 1.5 Likely benign 0 -241356 Simple 200021472 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-08-15 -0.6 0.5 Uncertain significance 0 -241358 Simple 200956659 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-03-06 -0.5700000000000001 1.0 Uncertain significance 0 -241368 Simple 116862304 T . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-28 -12.0 0.0 Benign/Likely benign 1 -241371 Simple 374738441 G . Benign/Likely benign 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2015-11-24 -8.100000000000001 2.0 Likely benign 1 -241373 Simple 747975797 - . Benign/Likely benign 2 2 not provided;Early infantile epileptic encephalopathy 2017-05-19 -9.0 0.5 Benign/Likely benign 0 -241380 Simple 57316123 A . Benign/Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-05-16 -29.4 1.0 Benign 1 -241381 Simple 34227547 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2017-07-17 -0.6 0.0 Uncertain significance 0 -241382 Simple 114653066 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2017-10-17 -8.4 1.0 Benign/Likely benign 0 -241386 Simple 185933892 C . Benign/Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-08-09 -47.4 1.0 Benign 1 -241387 Simple 12305439 A . Benign/Likely benign 2 9 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-27 -35.4 0.8888888888888888 Benign 1 -241388 Simple 114101785 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease type 2C;not specified 2017-05-25 -13.8 1.3333333333333333 Benign/Likely benign 0 -241389 Simple 34599967 G . Benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-27 -48.0 0.75 Benign 0 -241417 Simple 61750991 G . Benign/Likely benign 2 2 Erythrocytosis, familial, 3;Familial erythrocytosis 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -241420 Simple 199968728 A . Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-08-24 -5.7 1.0 Likely benign 0 -241426 Simple 201904226 A . Benign/Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-08-31 -9.0 0.0 Benign/Likely benign 0 -241427 Simple 201304831 C . Uncertain significance 2 2 not specified;Left ventricular noncompaction 8 2017-07-21 -0.5700000000000001 1.0 Uncertain significance 0 -241428 Simple 199853370 T . Benign/Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-08-02 -9.0 0.0 Benign/Likely benign 0 -241432 Simple 201327209 T . Benign/Likely benign 2 3 Beckwith-Wiedemann syndrome;Weaver syndrome;Sotos Syndrome 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -241437 Simple 145057187 A . Uncertain significance 2 2 Fanconi anemia 2017-06-02 -0.6 0.5 Uncertain significance 0 -241443 Simple 11026706 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -241444 Simple 36045913 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -241446 Simple 151176313 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-03 . 0.0 . 0 -241449 Simple 144035254 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-03 . 0.0 . 0 -241455 Simple 77351928 T . Benign/Likely benign 2 3 not specified;Walker-Warburg congenital muscular dystrophy 2017-10-18 -14.4 0.6666666666666666 Benign/Likely benign 0 -241457 Simple 765402738 A . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2016-07-11 -0.5700000000000001 1.5 Uncertain significance 0 -241460 Simple 563033008 A . Uncertain significance 2 3 not specified;Walker-Warburg congenital muscular dystrophy 2017-07-18 -0.87 1.0 Uncertain significance 0 -241470 Simple 368111230 G . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 5;Cardiovascular phenotype 2016-03-27 -0.51 2.5 Uncertain significance 0 -241475 Simple 5030274 G . Benign/Likely benign 2 5 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WAGR syndrome;WILMS TUMOR 2017-08-01 -18.0 0.8 Benign/Likely benign 0 -241476 Simple 2234581 T . Benign/Likely benign 2 5 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WAGR syndrome;WILMS TUMOR 2017-08-22 -18.0 0.8 Benign/Likely benign 0 -241479 Simple 5030135 A . Benign/Likely benign 2 6 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;WAGR syndrome;WILMS TUMOR 2017-07-21 -20.7 1.0 Benign/Likely benign 0 -241480 Simple 547333427 T . Likely benign 2 5 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;WAGR syndrome;WILMS TUMOR 2017-07-27 -15.0 0.8 Benign/Likely benign 1 -241487 Simple 751641518 T . Uncertain significance 2 5 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;WAGR syndrome;WILMS TUMOR 2017-03-27 -1.5 0.8 Uncertain significance 0 -241490 Simple 148612206 G . Benign/Likely benign 2 5 Parathyroid carcinoma;Hyperparathyroidism 2;not specified;Isolated Hyperparathyroidism 2017-07-28 -18.0 0.6 Benign/Likely benign 0 -241495 Simple 150951102 T . Benign/Likely benign 2 5 Parathyroid carcinoma;Hyperparathyroidism 2;not specified;Isolated Hyperparathyroidism 2017-07-26 -18.0 0.6 Benign/Likely benign 0 -241496 Simple 878855090 AGAG . Pathogenic 2 2 Parathyroid carcinoma;not provided 2017-06-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -241498 Simple 10921320 A . Likely benign 2 4 Parathyroid carcinoma;Hyperparathyroidism 2;Isolated Hyperparathyroidism 2017-07-03 -12.0 0.75 Benign/Likely benign 1 -241504 Simple 140307699 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-10-06 -0.6 0.5 Uncertain significance 0 -241510 Simple 112898261 T . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-22 -9.0 1.0 Benign/Likely benign 0 -241511 Simple 568625965 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-03 -0.6 0.5 Uncertain significance 0 -241512 Simple 202137559 C . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-22 -9.0 1.0 Benign/Likely benign 0 -241513 Simple 114902755 T . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-23 -9.0 1.0 Benign/Likely benign 0 -241516 Simple 146690078 A . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-20 -9.0 0.5 Benign/Likely benign 0 -241517 Simple 41306504 A . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-30 -12.0 1.0 Benign/Likely benign 1 -241518 Simple 149726976 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.5 Uncertain significance 0 -241519 Simple 751386354 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -241524 Simple 587781863 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-19 -0.5700000000000001 1.5 Uncertain significance 0 -241529 Simple 566105533 C . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-16 -11.7 1.0 Benign/Likely benign 1 -241530 Simple 767926590 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-04-04 -0.5700000000000001 1.5 Uncertain significance 0 -241536 Simple 771376636 A . Uncertain significance 2 2 Familial cancer of breast;not specified 2016-06-03 -0.5700000000000001 1.5 Uncertain significance 0 -241538 Simple 371149159 A . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -11.4 1.25 Benign/Likely benign 1 -241540 Simple 878855106 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-01-10 -0.54 2.0 Uncertain significance 0 -241541 Simple 878855107 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -241543 Simple 878855109 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-11 -0.5700000000000001 1.5 Uncertain significance 0 -241544 Simple 768064297 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-02-24 -5.4 2.0 Likely benign 0 -241545 Simple 786203603 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-08 -6.0 0.5 Likely benign 0 -241546 Simple 587778587 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 18.0 0.6666666666666666 Pathogenic 0 -241549 Simple 878855111 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-30 -0.87 1.0 Uncertain significance 0 -241552 Simple 878855113 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-07 -0.5700000000000001 1.5 Uncertain significance 0 -241553 Simple 45464500 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -1.2 0.25 Uncertain significance 0 -241554 Simple 61755166 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.0 Uncertain significance 0 -241555 Simple 878855114 G . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2015-12-28 -8.100000000000001 2.0 Likely benign 0 -241568 Simple 190626072 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -11.7 0.75 Benign/Likely benign 1 -241569 Simple 878855121 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -241570 Simple 878855122 A . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 18.0 0.3333333333333333 Pathogenic 0 -241574 Simple 878855126 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-27 -0.6 0.5 Uncertain significance 0 -241578 Simple 75790638 T . Benign/Likely benign 2 2 Dyskeratosis congenita;Dyskeratosis Congenita, Recessive 2017-04-27 -9.0 0.5 Benign/Likely benign 0 -241580 Simple 62620189 G . Benign 2 2 Dyskeratosis congenita;not specified 2017-07-19 -12.0 0.5 Benign/Likely benign 1 -241584 Simple 200817579 A . Uncertain significance 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis 2016-06-14 -1.77 1.1666666666666667 Uncertain significance 0 -241599 Simple 76116949 C . Benign 2 2 Spastic paraplegia 11, autosomal recessive;not provided 2017-07-25 -12.0 0.0 Benign/Likely benign 1 -241600 Simple 75309308 A . Uncertain significance 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2016-11-04 -0.6 1.0 Uncertain significance 0 -241601 Simple 201495666 T . Benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-03-28 -11.4 1.0 Benign/Likely benign 1 -241606 Simple 34295241 A . Benign/Likely benign 2 4 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-06 -19.200000000000003 1.5 Benign/Likely benign 0 -241619 Simple 150636700 G . Likely benign 2 1 Ciliary dyskinesia, primary, 16;not specified 2015-11-20 . 2.0 . 0 -241621 Simple 878855134 AG . Pathogenic 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -241622 Simple 878855135 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-03-27 -0.5700000000000001 1.5 Uncertain significance 0 -241623 Simple 754755989 A . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-30 -8.4 1.3333333333333333 Benign/Likely benign 1 -241624 Simple 878855136 C . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-02-23 -5.4 2.0 Likely benign 0 -241626 Simple 878855138 G . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-01-15 -5.4 2.0 Likely benign 0 -241628 Simple 878855140 GTTGTTGAAATATCAATTTGATATA . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 15.0 0.6666666666666666 Pathogenic 1 -241630 Simple 377302300 A . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -1.2 0.5 Uncertain significance 0 -241632 Simple 878855142 G . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-02-07 -5.4 2.0 Likely benign 0 -241633 Simple 201024366 G . Benign/Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -241635 Simple 786202760 G . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -241636 Simple 753036322 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-12-12 -0.5700000000000001 1.5 Uncertain significance 0 -241637 Simple 878855144 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-05-12 -0.6 1.0 Uncertain significance 0 -241639 Simple 878855146 - . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -241642 Simple 760551339 - . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-25 21.0 0.25 Pathogenic 1 -241647 Simple 878855150 TTTGTTTG . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-13 9.0 0.5 Pathogenic/Likely pathogenic 0 -241648 Simple 878855151 - . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;Breast cancer, early-onset;not provided;Hereditary cancer-predisposing syndrome 2016-11-21 17.1 1.5 Pathogenic 1 -241651 Simple 878855152 T . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-11-15 -5.7 1.5 Likely benign 0 -241653 Simple 754003636 A . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-11 -11.7 0.75 Benign/Likely benign 1 -241654 Simple 878855154 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-17 -0.6 0.5 Uncertain significance 0 -241660 Simple 878855157 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-29 -0.5700000000000001 1.0 Uncertain significance 0 -241665 Simple 374974885 C . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -11.4 1.0 Benign/Likely benign 1 -241668 Simple 1056085 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-06-27 -11.7 1.0 Benign/Likely benign 0 -241674 Simple 79448721 A . Benign/Likely benign 2 3 Fanconi anemia;not specified;not provided 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -241679 Simple 79126454 T . Benign 2 1 Fanconi anemia;not specified 2017-07-31 . 0.0 . 0 -241680 Simple 139544666 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-02-17 -0.6 1.0 Uncertain significance 0 -241685 Simple 116781836 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -241686 Simple 142205392 T . Uncertain significance 2 2 Fanconi anemia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -241688 Simple 79174372 T . Benign/Likely benign 2 3 Fanconi anemia;not specified;not provided 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -241690 Simple 77718962 A . Benign/Likely benign 2 4 Fanconi anemia;not specified 2017-06-27 -17.7 1.0 Benign/Likely benign 0 -241693 Simple 78770603 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -241694 Simple 75182789 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-06-27 -11.7 1.0 Benign/Likely benign 0 -241697 Simple 111738042 C . Benign/Likely benign 2 3 Fanconi anemia;not specified;not provided 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -241698 Simple 147826749 G . Uncertain significance 2 2 Fanconi anemia;not specified 2017-04-11 -0.6 0.5 Uncertain significance 0 -241701 Simple 118089506 A . Benign 2 2 Fanconi anemia;not specified 2017-07-16 -12.0 0.5 Benign/Likely benign 1 -241707 Simple 77249928 T . Benign/Likely benign 2 2 not specified;Dilated cardiomyopathy 1KK 2017-06-20 -8.7 1.0 Benign/Likely benign 0 -241709 Simple 878855165 A . Uncertain significance 2 2 Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2016-02-01 -0.54 2.0 Uncertain significance 0 -241712 Simple 45598538 A . Benign/Likely benign 2 2 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -241726 Simple 200208281 C . Benign/Likely benign 2 2 Left ventricular noncompaction 1;not specified 2016-07-06 -8.7 1.5 Benign/Likely benign 0 -241727 Simple 144776465 A . Likely benign 2 2 Left ventricular noncompaction 1;not specified 2017-05-08 -6.0 0.5 Likely benign 0 -241728 Simple 147128920 G . Likely benign 2 2 Diamond-Blackfan anemia 2016-06-14 -6.0 1.0 Likely benign 0 -241729 Simple 149125003 G . Benign 2 2 Fanconi anemia;not specified 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -241731 Simple 35557429 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-05-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -241748 Simple 775054657 T . Likely benign 2 2 Long QT syndrome;not specified 2016-06-09 -6.0 1.0 Likely benign 0 -241752 Simple 368509953 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-04-17 -0.5700000000000001 1.0 Uncertain significance 0 -241754 Simple 142835596 T . Benign 2 3 Aortic aneurysm, familial thoracic 7;not specified 2017-04-23 -18.0 0.6666666666666666 Benign/Likely benign 1 -241756 Simple 766824318 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2016-12-17 -0.6 1.0 Uncertain significance 0 -241759 Simple 143896146 A . Benign/Likely benign 2 5 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-04 -26.4 0.8 Benign 1 -241762 Simple 138423692 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 7;not specified 2016-12-07 -5.7 1.5 Likely benign 0 -241764 Simple 201835018 C . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -241767 Simple 112832782 T . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -1.2 0.75 Uncertain significance 0 -241769 Simple 765304898 A . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-09-16 -0.6 1.0 Uncertain significance 0 -241773 Simple 771078849 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-08-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -241774 Simple 780177888 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -0.87 1.0 Uncertain significance 0 -241775 Simple 878855179 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -241777 Simple 539341386 C . Uncertain significance 2 5 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-10-11 -1.5 0.6 Uncertain significance 0 -241778 Simple 878855181 T . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-05-14 -0.6 1.0 Uncertain significance 0 -241779 Simple 760235677 T . Likely pathogenic 2 4 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided 2017-07-21 12.0 0.75 Pathogenic/Likely pathogenic 1 -241794 Simple 771554497 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-01-17 -0.51 2.5 Uncertain significance 0 -241795 Simple 878855184 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-06-10 -5.7 1.5 Likely benign 0 -241799 Simple 878855188 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-09-25 -6.0 1.0 Likely benign 0 -241806 Simple 200280309 A . Benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-06-10 -11.4 1.0 Benign/Likely benign 1 -241807 Simple 749265222 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-12-19 -6.0 1.0 Likely benign 0 -241809 Simple 753022747 C . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-12-29 -0.6 1.0 Uncertain significance 0 -241810 Simple 767677287 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-06-06 -5.7 1.0 Likely benign 0 -241815 Simple 878855194 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-09-20 -6.0 0.0 Likely benign 0 -241816 Simple 146568011 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -5.4 1.5 Likely benign 0 -241819 Simple 746067825 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-23 -6.0 0.0 Likely benign 0 -241835 Simple 878855201 A . Likely benign 2 2 Angelman syndrome;not specified 2016-05-24 -5.7 1.5 Likely benign 0 -241837 Simple 75171318 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth, Type 2 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -241838 Simple 201284198 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth, Type 2 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -241839 Simple 56380300 G . Benign/Likely benign 2 5 not specified;Charcot-Marie-Tooth disease type 2P;not provided;Charcot-Marie-Tooth, Type 2 2017-08-07 -20.4 0.8 Benign/Likely benign 0 -241841 Simple 116124750 A . Benign 2 1 Autosomal recessive polycystic kidney disease;not specified 2017-07-28 . 0.0 . 0 -241845 Simple 2499482 A . Benign 2 1 Autosomal recessive polycystic kidney disease;not specified 2016-03-29 . 1.0 . 0 -241846 Simple 148790132 T . Benign 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-07-28 -11.4 1.0 Benign/Likely benign 1 -241849 Simple 370342380 G . Benign/Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified 2016-02-01 -8.100000000000001 2.0 Likely benign 1 -241866 Simple 754061340 T . Uncertain significance 2 2 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified 2017-01-05 -0.6 1.0 Uncertain significance 0 -241868 Simple 73585360 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -241869 Simple 150259992 A . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-03-30 . 0.0 . 0 -241872 Simple 73585332 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -241873 Simple 114111020 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-10 . 0.0 . 0 -241874 Simple 58966182 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-04-03 . 0.0 . 0 -241875 Simple 147072026 A . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-27 . 0.0 . 0 -241876 Simple 74351635 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -241877 Simple 878855210 A . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-02-04 . 2.0 . 0 -241879 Simple 114078313 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2016-07-15 . 1.0 . 0 -241880 Simple 34628933 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-04 . 0.0 . 0 -241881 Simple 755160902 - . Likely benign 2 2 Spastic paraplegia 6;not specified 2017-08-16 -6.0 0.0 Likely benign 0 -241882 Simple 549007670 GGCGGC . Likely benign 2 2 Spastic paraplegia 6;not specified 2017-06-05 -6.0 0.0 Likely benign 0 -241900 Simple 61745125 T . Benign 2 2 not specified 2017-01-23 -12.0 1.0 Benign/Likely benign 1 -241902 Simple 61736726 C . Benign 2 2 not specified 2017-01-22 -12.0 1.0 Benign/Likely benign 1 -241908 Simple 61746590 A . Benign 2 3 not specified;not provided 2017-01-09 -18.0 1.0 Benign/Likely benign 1 -241910 Simple 73037000 A . Benign 2 2 not specified 2017-01-16 -12.0 1.0 Benign/Likely benign 1 -241915 Simple 878855213 - . Pathogenic 2 2 Multiple fibrofolliculomas;not provided 2016-12-07 11.4 1.5 Pathogenic/Likely pathogenic 1 -241916 Simple 374707789 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-08-24 -6.0 0.5 Likely benign 0 -241918 Simple 151312899 C . Benign/Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-03-24 -8.4 1.0 Benign/Likely benign 0 -241919 Simple 747029882 T . Benign/Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-05-08 -8.7 1.0 Benign/Likely benign 0 -241920 Simple 878855214 C . Likely pathogenic 2 2 Multiple fibrofolliculomas;not provided 2017-06-22 6.0 0.0 Likely pathogenic 0 -241922 Simple 776896550 TT . Pathogenic 2 3 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-07-05 18.0 0.6666666666666666 Pathogenic 0 -241924 Simple 766288960 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-09-13 -6.0 0.0 Likely benign 0 -241925 Simple 200672897 G . Benign/Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-12 -8.7 1.0 Benign/Likely benign 0 -241926 Simple 143525924 T . Uncertain significance 2 2 Multiple fibrofolliculomas;not specified 2017-08-10 -0.6 0.0 Uncertain significance 0 -241927 Simple 878855217 - . Pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 24.0 0.75 Pathogenic 0 -241930 Simple 150175875 G . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-06-21 -5.7 1.0 Likely benign 0 -241932 Simple 749758787 A . Uncertain significance 2 3 Multiple fibrofolliculomas;Spontaneous pneumothorax 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -241940 Simple 116549039 C . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -241942 Simple 143295007 A . Benign 2 2 not provided;Ciliary dyskinesia, primary, 30 2017-08-10 -12.0 0.0 Benign/Likely benign 1 -241954 Simple 79369633 A . Benign 2 2 Idiopathic generalized epilepsy;not specified 2017-08-03 -12.0 0.0 Benign/Likely benign 1 -241962 Simple 72998118 C . Benign/Likely benign 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -241969 Simple 749596505 A . Uncertain significance 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism 2017-07-03 -0.6 0.5 Uncertain significance 0 -241980 Simple 201733073 G . Uncertain significance 2 4 Renal hamartomas nephroblastomatosis and fetal gigantism;not specified 2017-07-28 -1.2 0.75 Uncertain significance 0 -241982 Simple 73001172 T . Benign/Likely benign 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -241992 Simple 140644874 A . Benign/Likely benign 2 2 Legius syndrome;not specified 2017-01-16 -8.7 1.5 Benign/Likely benign 0 -241994 Simple 35110984 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-06 . 0.0 . 0 -241998 Simple 142663818 A . Benign/Likely benign 2 2 Nephronophthisis;not specified 2017-08-16 -9.0 0.5 Benign/Likely benign 0 -242000 Simple 878855231 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2016-02-23 -0.54 2.0 Uncertain significance 0 -242003 Simple 878855233 C . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type 2;not specified;Hypertrophic cardiomyopathy 2017-07-21 -0.87 0.6666666666666666 Uncertain significance 0 -242007 Simple 757596960 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2016-09-20 -6.0 1.0 Likely benign 0 -242029 Simple 878855238 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-05 -0.5700000000000001 1.0 Uncertain significance 0 -242034 Simple 111595160 C . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -9.0 0.0 Benign/Likely benign 0 -242036 Simple 528592903 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-11 -6.0 0.5 Likely benign 0 -242039 Simple 777894117 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-15 -0.5700000000000001 1.0 Uncertain significance 0 -242041 Simple 754334322 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -6.0 0.0 Likely benign 0 -242044 Simple 746837277 - . Benign/Likely benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-22 -15.0 0.3333333333333333 Benign/Likely benign 0 -242045 Simple 148218787 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-09 -6.0 0.0 Likely benign 0 -242046 Simple 143099538 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-10 -0.6 0.0 Uncertain significance 0 -242048 Simple 143117334 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -6.0 0.0 Likely benign 0 -242049 Simple 774765473 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-02-01 -5.7 1.5 Likely benign 0 -242050 Simple 754852266 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -242051 Simple 141651702 T . Benign/Likely benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -15.0 0.6666666666666666 Benign/Likely benign 0 -242054 Simple 878855246 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 10.8 1.5 Pathogenic/Likely pathogenic 1 -242055 Simple 544623004 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.0 Uncertain significance 0 -242056 Simple 140087741 G . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -9.0 0.0 Benign/Likely benign 0 -242061 Simple 878855250 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-05 -5.7 1.0 Likely benign 0 -242064 Simple 373646414 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -242066 Simple 752565186 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-19 -6.0 0.0 Likely benign 0 -242071 Simple 377326167 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-15 -0.6 0.0 Uncertain significance 0 -242073 Simple 752905540 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.0 Uncertain significance 0 -242074 Simple 375772460 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-14 -6.0 0.5 Likely benign 0 -242076 Simple 878855254 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -242078 Simple 114964211 G . Benign/Likely benign 2 4 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -21.0 0.75 Benign/Likely benign 0 -242079 Simple 547156371 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-19 -6.0 0.0 Likely benign 0 -242080 Simple 148959399 C . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -9.0 0.0 Benign/Likely benign 0 -242081 Simple 369869162 T . Likely benign 2 3 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -9.0 0.0 Benign/Likely benign 1 -242084 Simple 748581847 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-03-16 -0.6 0.5 Uncertain significance 0 -242085 Simple 774583162 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-08 -0.6 0.0 Uncertain significance 0 -242089 Simple 878855259 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -6.0 0.5 Likely benign 0 -242091 Simple 778862635 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-09 -6.0 0.0 Likely benign 0 -242092 Simple 751764482 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-15 -0.6 0.5 Uncertain significance 0 -242095 Simple 768375445 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -6.0 0.0 Likely benign 0 -242099 Simple 752740048 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.5 Uncertain significance 0 -242100 Simple 878855263 TGTTGT . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-15 -0.6 0.0 Uncertain significance 0 -242101 Simple 762677393 G . Uncertain significance 2 3 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -242105 Simple 376041812 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-29 -0.6 0.0 Uncertain significance 0 -242111 Simple 878855268 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-28 -0.6 0.5 Uncertain significance 0 -242112 Simple 141308332 G . Benign/Likely benign 2 4 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -15.0 0.75 Benign/Likely benign 0 -242113 Simple 752773026 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -6.0 0.0 Likely benign 0 -242114 Simple 747901058 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.0 Uncertain significance 0 -242123 Simple 142815547 T . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -242125 Simple 878855271 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-07 -6.0 0.0 Likely benign 0 -242127 Simple 140875148 A . Likely benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -9.0 0.6666666666666666 Benign/Likely benign 1 -242132 Simple 188609628 A . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-10 -9.0 0.0 Benign/Likely benign 0 -242133 Simple 114861074 T . Benign/Likely benign 2 3 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -12.0 0.6666666666666666 Benign/Likely benign 0 -242134 Simple 878855274 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2016-01-01 10.2 2.5 Pathogenic/Likely pathogenic 1 -242135 Simple 756025825 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-11 -6.0 0.5 Likely benign 0 -242137 Simple 111630745 T . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -9.0 0.0 Benign/Likely benign 0 -242142 Simple 763801533 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -6.0 0.0 Likely benign 0 -242143 Simple 763651908 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -6.0 0.5 Likely benign 0 -242147 Simple 754439528 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.0 Uncertain significance 0 -242149 Simple 376070315 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-23 -6.0 0.0 Likely benign 0 -242152 Simple 755944755 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-09 -0.6 0.0 Uncertain significance 0 -242153 Simple 149718671 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-08 -0.6 0.0 Uncertain significance 0 -242154 Simple 3833163 - . Likely benign 2 2 Nephronophthisis 9;Nephronophthisis 2017-08-01 -6.0 0.5 Likely benign 0 -242155 Simple 141599330 T . Uncertain significance 2 2 Nephronophthisis 9;not specified 2017-04-05 -0.5700000000000001 1.0 Uncertain significance 0 -242156 Simple 79772571 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-16 . 0.0 . 0 -242157 Simple 148990251 A . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-25 . 0.0 . 0 -242158 Simple 201519478 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-05-11 -0.6 0.5 Uncertain significance 0 -242164 Simple 4150187 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-05-10 . 0.0 . 0 -242170 Simple 140505857 A . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2017-08-03 -0.6 0.0 Uncertain significance 0 -242171 Simple 200277460 C . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-08-03 -0.6 0.5 Uncertain significance 0 -242174 Simple 57859179 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-10 . 0.0 . 0 -242181 Simple 752531623 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2016-11-14 -0.6 1.0 Uncertain significance 0 -242185 Simple 369072136 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2016-06-14 -0.6 1.0 Uncertain significance 0 -242187 Simple 753330520 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -242196 Simple 376965389 G . Uncertain significance 2 8 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2016-06-14 -2.4 1.0 Uncertain significance 0 -242206 Simple 878855296 T . Likely pathogenic 2 2 Brugada syndrome;not provided 2017-06-30 6.0 0.0 Likely pathogenic 0 -242209 Simple 794728905 CA . Uncertain significance 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-07-12 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -242219 Simple 35809415 A . Benign/Likely benign 2 5 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-08-15 -20.4 1.0 Benign/Likely benign 0 -242223 Simple 151055240 T . Likely benign 2 5 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-07-28 -15.0 0.8 Benign/Likely benign 1 -242224 Simple 765264494 C . Likely benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-07-25 -6.0 0.0 Likely benign 0 -242225 Simple 375699185 C . Uncertain significance 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-05-22 -0.6 0.5 Uncertain significance 0 -242229 Simple 200174990 T . Benign/Likely benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-04-21 -9.0 0.0 Benign/Likely benign 0 -242233 Simple 201689770 G . Likely benign 2 4 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-07-20 -12.0 0.75 Benign/Likely benign 1 -242239 Simple 200102606 T . Likely benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-05-05 -6.0 0.5 Likely benign 0 -242249 Simple 35440033 T . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-08 -8.7 1.0 Benign/Likely benign 0 -242250 Simple 369588692 T . Uncertain significance 2 2 Brugada syndrome 5;not specified 2017-04-10 -0.5700000000000001 1.0 Uncertain significance 0 -242254 Simple 11042950 T . Benign 2 2 not specified;Dystonia 2017-08-10 -12.0 0.0 Benign/Likely benign 1 -242261 Simple 143060134 T . Benign/Likely benign 2 2 Brugada syndrome 4;Cardiovascular phenotype 2017-08-04 -8.7 1.0 Benign/Likely benign 0 -242293 Simple 149845612 T . Uncertain significance 2 2 Familial dysautonomia;not specified 2017-06-13 -0.6 0.5 Uncertain significance 0 -242301 Simple 77026017 T . Benign/Likely benign 2 3 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-08-07 -12.0 0.3333333333333333 Benign/Likely benign 0 -242306 Simple 201572812 A . Uncertain significance 2 3 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-02-10 -0.87 1.3333333333333333 Uncertain significance 0 -242314 Simple 142609007 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-25 -0.6 0.0 Uncertain significance 0 -242418 Simple 150877497 A . Pathogenic/Likely pathogenic 2 3 Dysferlinopathy;not provided 2017-04-27 15.0 0.6666666666666666 Pathogenic 1 -242458 Simple 771578775 T . Pathogenic 2 2 Coenzyme Q10 deficiency, primary, 4;not provided 2017-11-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -242558 Simple 140243105 T . Uncertain significance 2 2 not provided;Molybdenum cofactor deficiency 2016-07-31 -0.6 1.0 Uncertain significance 0 -242634 Simple 144334281 A . Likely benign 2 3 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-11-09 -9.0 1.0 Benign/Likely benign 1 -242635 Simple 79740039 T . Benign/Likely benign 2 5 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-07-31 -24.0 0.6 Benign 1 -242680 Simple 281864919 T . Pathogenic 2 2 Hyperekplexia hereditary;not provided 2017-06-14 12.0 0.5 Pathogenic/Likely pathogenic 1 -242806 Simple 2301612 G . Benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -242866 Simple 879253746 TT . Pathogenic 2 2 Blepharophimosis;not provided;Absent speech;Thick lower lip vermilion;Thin upper lip vermilion;Long eyelashes;Intellectual disability, moderate 2016-11-03 10.8 2.0 Pathogenic/Likely pathogenic 1 -243030 Simple 762368691 CC . Pathogenic 2 2 Myasthenic syndrome, congenital, 4a, slow-channel;Congenital myasthenic syndrome;not provided 2017-03-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -243031 Simple 763258280 - . Pathogenic 2 3 Myasthenic syndrome, congenital, 4a, slow-channel;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency;Congenital myasthenic syndrome;not provided 2017-10-25 18.0 0.3333333333333333 Pathogenic 0 -243077 Simple 147816470 A . Pathogenic/Likely pathogenic 2 2 Leigh syndrome;not provided 2017-10-12 8.4 1.0 Pathogenic/Likely pathogenic 0 -243106 Simple 777603154 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -1.2 0.25 Uncertain significance 0 -243109 Simple 757901425 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.2 0.5 Uncertain significance 0 -243110 Simple 879253877 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-09-04 -0.5700000000000001 1.5 Uncertain significance 0 -243115 Simple 879253878 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -1.17 1.0 Uncertain significance 0 -245593 Simple 117287351 A . Likely benign 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2017-07-25 -12.0 0.75 Benign/Likely benign 1 -245594 Simple 146442638 T . Benign 2 2 not specified 2016-12-14 -11.4 1.5 Benign/Likely benign 1 -245598 Simple 879253882 A . Pathogenic/Likely pathogenic 2 2 Cyclical neutropenia;Severe congenital neutropenia autosomal dominant;not provided 2017-03-24 9.0 0.5 Pathogenic/Likely pathogenic 0 -245606 Simple 780828430 - . Uncertain significance 2 5 Charcot-Marie-Tooth disease, type 4A;not specified;not provided;Charcot-Marie-Tooth with Vocal Cord Paresis;Charcot-Marie-Tooth, Intermediate 2017-05-12 -1.5 0.8 Uncertain significance 0 -245619 Simple 201390691 T . Likely benign 2 3 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-09-15 -9.0 0.6666666666666666 Benign/Likely benign 1 -245624 Simple 112265127 A . Benign/Likely benign 2 2 not specified 2017-03-03 -8.4 1.5 Benign/Likely benign 0 -245627 Simple 201060167 C . Pathogenic 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;not provided;Charcot-Marie-Tooth disease, axonal, type 2S 2017-08-10 18.0 0.6666666666666666 Pathogenic 0 -245628 Simple 200007067 A . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2016-12-16 -0.5700000000000001 1.5 Uncertain significance 0 -245631 Simple 143986510 A . Uncertain significance 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -245632 Simple 147038490 A . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -245641 Simple 143090653 A . Benign 2 2 Majeed syndrome;not specified 2017-06-28 -12.0 0.5 Benign/Likely benign 1 -245644 Simple 148059394 A . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth disease type 2P 2017-07-03 -0.6 0.0 Uncertain significance 0 -245645 Simple 199841800 T . Uncertain significance 2 2 Lynch syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -245647 Simple 774440277 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-25 -1.2 0.0 Uncertain significance 0 -245649 Simple 2233318 C . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type IV;not specified 2017-08-02 -0.87 1.0 Uncertain significance 0 -245654 Simple 879253891 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -245655 Simple 879253892 - . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;not provided 2017-02-02 8.7 1.5 Pathogenic/Likely pathogenic 0 -245656 Simple 756116550 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -245657 Simple 770145849 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -0.87 0.6666666666666666 Uncertain significance 0 -245661 Simple 367543633 A . Uncertain significance 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-06-13 -0.6 0.5 Uncertain significance 0 -245667 Simple 139362350 C . Benign/Likely benign 2 4 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-08-02 -17.4 1.0 Benign/Likely benign 0 -245669 Simple 752780416 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -245671 Simple 4149637 A . Benign/Likely benign 2 4 TNF receptor-associated periodic fever syndrome (TRAPS);not specified;Familial Periodic Fever 2017-10-02 -15.0 0.5 Benign/Likely benign 0 -245674 Simple 139300843 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2017-06-23 -0.5700000000000001 1.0 Uncertain significance 0 -245678 Simple 755221482 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -245681 Simple 754195015 T . Uncertain significance 2 2 not specified;Hereditary cutaneous melanoma 2017-08-31 -0.6 0.5 Uncertain significance 0 -245686 Simple 879253899 - . Pathogenic 2 3 Lynch syndrome;not provided 2017-04-06 17.4 1.0 Pathogenic 0 -245688 Simple 148625092 T . Likely benign 2 2 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-08-01 -6.0 0.5 Likely benign 0 -245689 Simple 879253901 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -245692 Simple 147634857 T . Likely benign 2 2 not specified 2016-03-02 -5.4 2.0 Likely benign 0 -245697 Simple 80357389 G . Pathogenic 2 3 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2015-11-19 16.200000000000003 2.0 Pathogenic 0 -245698 Simple 879253905 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-11-03 10.8 2.0 Pathogenic/Likely pathogenic 1 -245699 Simple 754363694 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -0.8999999999999999 0.0 Uncertain significance 0 -245716 Simple 763302555 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2017-06-22 -0.6 0.5 Uncertain significance 0 -245723 Simple 145071617 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2016-12-15 -0.6 1.0 Uncertain significance 0 -245733 Simple 147441856 A . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 4 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -245738 Simple 199824489 T . Uncertain significance 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -2.37 1.125 Uncertain significance 0 -245749 Simple 150517167 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.5 Uncertain significance 0 -245753 Simple 879253930 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -1.17 0.75 Uncertain significance 0 -245754 Simple 876660397 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-05 -0.5700000000000001 1.5 Uncertain significance 0 -245757 Simple 879253932 - . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 1B;not provided 2016-07-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -245763 Simple 879253937 A . Uncertain significance 2 4 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -1.17 1.25 Uncertain significance 0 -245769 Simple 149682441 T . Uncertain significance 2 2 not specified 2015-11-13 -0.54 2.0 Uncertain significance 0 -245771 Simple 145429721 A . Uncertain significance 2 2 not specified;Spinal muscular atrophy, distal, autosomal recessive, 5 2017-03-21 -0.5700000000000001 1.0 Uncertain significance 0 -245780 Simple 747139279 A . Uncertain significance 2 2 not specified 2016-11-25 -0.5700000000000001 1.5 Uncertain significance 0 -245781 Simple 768480943 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -0.87 1.0 Uncertain significance 0 -245782 Simple 762682111 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.87 1.0 Uncertain significance 0 -245783 Simple 377518118 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2017-04-04 -0.6 0.5 Uncertain significance 0 -245791 Simple 779718362 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -1.2 0.25 Uncertain significance 0 -245792 Simple 763724110 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -245797 Simple 142883042 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-18 -0.6 0.5 Uncertain significance 0 -245800 Simple 201186597 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-12 -0.5700000000000001 1.0 Uncertain significance 0 -245802 Simple 551236465 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-13 -0.87 1.0 Uncertain significance 0 -245815 Simple 376603775 T . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-18 18.0 0.0 Pathogenic 0 -245816 Simple 776987532 T . Uncertain significance 2 2 Melanoma-pancreatic cancer syndrome;not specified 2016-09-29 -0.5700000000000001 1.5 Uncertain significance 0 -245817 Simple 61578124 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -245823 Simple 374280444 C . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -245828 Simple 63749907 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -0.5700000000000001 1.0 Uncertain significance 0 -245834 Simple 775782198 G . Uncertain significance 2 2 Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -245842 Simple 760955058 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.87 1.0 Uncertain significance 0 -245859 Simple 200624920 C . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2016-02-06 -0.54 2.0 Uncertain significance 0 -245860 Simple 879253977 T . Uncertain significance 2 2 Familial dysautonomia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -245863 Simple 201445955 A . Uncertain significance 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-07-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -245872 Simple 141594765 T . Uncertain significance 2 3 Spinal muscular atrophy;not specified;not provided;SMA: Spinal muscular atrophy 2017-03-28 -0.87 1.0 Uncertain significance 0 -245883 Simple 201640213 A . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -245884 Simple 879253983 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.87 1.0 Uncertain significance 0 -245885 Simple 879253984 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.87 0.6666666666666666 Uncertain significance 0 -245890 Simple 755471995 . . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-12 21.0 0.25 Pathogenic 1 -245891 Simple 138904906 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -1.2 0.0 Uncertain significance 0 -245895 Simple 879253989 T . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-08-03 -0.6 0.5 Uncertain significance 0 -245903 Simple 879253994 T . Pathogenic 2 2 Paroxysmal extreme pain disorder;not provided 2017-02-13 11.4 1.5 Pathogenic/Likely pathogenic 1 -245915 Simple 764949536 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2017-01-24 -0.6 1.0 Uncertain significance 0 -245917 Simple 863224537 C . Conflicting interpretations of pathogenicity 1 2 not specified;Familial adenomatous polyposis 2017-03-29 5.1000000000000005 1.0 Likely pathogenic 2 -245930 Simple 200363654 A . Likely benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-09-20 -6.0 0.5 Likely benign 0 -245932 Simple 779344629 T . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-06-28 -0.5700000000000001 1.0 Uncertain significance 0 -245941 Simple 879254009 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-02-21 -0.5700000000000001 1.5 Uncertain significance 0 -245942 Simple 141518903 T . Uncertain significance 2 2 not specified 2017-10-02 -0.6 0.5 Uncertain significance 0 -245944 Simple 879254011 A . Pathogenic 2 2 Charcot-Marie-Tooth disease, type 2;not provided 2016-10-26 11.4 1.5 Pathogenic/Likely pathogenic 1 -245946 Simple 879254012 A . Pathogenic 2 2 not provided 2016-11-29 11.4 1.5 Pathogenic/Likely pathogenic 1 -245947 Simple 267607924 A . Pathogenic/Likely pathogenic 2 2 Lynch syndrome;not provided 2016-09-30 9.0 1.0 Pathogenic/Likely pathogenic 0 -245950 Simple 730882262 C . Likely pathogenic 2 2 Dilated cardiomyopathy 1A;not provided 2017-05-12 4.8 2.5 Likely pathogenic 0 -245958 Simple 569810249 T . Uncertain significance 2 2 not specified 2017-10-16 -0.6 0.5 Uncertain significance 0 -245959 Simple 761443441 T . Uncertain significance 2 2 not specified;Intellectual Disability, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -245965 Simple 879254020 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-04-11 -0.87 1.0 Uncertain significance 0 -245968 Simple 879254023 T . Pathogenic 3 5 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 26.4 1.4 Pathogenic 0 -245969 Simple 879254024 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-20 -0.5700000000000001 1.0 Uncertain significance 0 -245972 Simple 773516672 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-03-31 17.4 1.0 Pathogenic 0 -245973 Simple 80357017 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-27 -0.5700000000000001 1.5 Uncertain significance 0 -245983 Simple 765398055 C . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2016-10-12 -0.87 1.3333333333333333 Uncertain significance 0 -245984 Simple 879254033 T . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-04-19 -0.5700000000000001 1.0 Uncertain significance 0 -245987 Simple 143585428 A . Uncertain significance 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-08-04 -0.6 0.0 Uncertain significance 0 -245989 Simple 879254036 - . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-24 14.7 1.0 Pathogenic/Likely pathogenic 0 -245991 Simple 779582317 G . Pathogenic 2 3 Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-09-27 18.0 0.6666666666666666 Pathogenic 0 -245998 Simple 780178101 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-23 -0.54 2.0 Uncertain significance 0 -245999 Simple 879254039 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.5700000000000001 1.0 Uncertain significance 0 -246000 Simple 879254040 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.5700000000000001 1.0 Uncertain significance 0 -246002 Simple 879254042 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.5700000000000001 1.0 Uncertain significance 0 -246006 Simple 879254045 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-26 -0.54 2.0 Uncertain significance 0 -246011 Simple 754178539 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.87 1.0 Uncertain significance 0 -246018 Simple 879254049 A . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2016-12-21 -0.5700000000000001 1.5 Uncertain significance 0 -246019 Simple 774530388 C . Uncertain significance 2 2 not specified 2017-01-25 -0.5700000000000001 1.5 Uncertain significance 0 -246022 Simple 371713984 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.5 Uncertain significance 0 -246024 Simple 879254051 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -0.87 0.6666666666666666 Uncertain significance 0 -246025 Simple 200660626 T . Likely benign 2 2 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-06-24 -5.7 1.0 Likely benign 0 -246026 Simple 879254052 - . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-03-15 8.7 1.0 Pathogenic/Likely pathogenic 0 -246027 Simple 867503066 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-12 -0.5700000000000001 1.0 Uncertain significance 0 -246031 Simple 140687324 T . Uncertain significance 2 3 not specified;not provided;Distal spinal muscular atrophy 2016-07-31 -0.87 1.3333333333333333 Uncertain significance 0 -246041 Simple 146468976 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-05-16 -0.5700000000000001 1.0 Uncertain significance 0 -246042 Simple 879254060 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-22 14.7 1.0 Pathogenic/Likely pathogenic 0 -246052 Simple 879254068 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-13 -0.6 1.0 Uncertain significance 0 -246060 Simple 201774098 T . Uncertain significance 2 2 not specified;Dementia, Deafness, and Sensory Neuropathy 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -246065 Simple 140817021 G . Uncertain significance 2 2 not specified;Distal spinal muscular atrophy 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -246070 Simple 879254078 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -0.5700000000000001 1.0 Uncertain significance 0 -246085 Simple 879254088 AA . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2017-01-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -246087 Simple 879254090 C . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-04-20 16.2 2.0 Pathogenic 0 -246090 Simple 879254093 A . Pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-04-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -246096 Simple 879254097 G . Pathogenic/Likely pathogenic 2 3 Charcot-Marie-Tooth Neuropathy X;not provided 2016-12-22 12.0 1.0 Pathogenic/Likely pathogenic 0 -246098 Simple 879254099 T . Pathogenic 2 2 not provided 2016-11-18 12.0 1.0 Pathogenic/Likely pathogenic 1 -246103 Simple 772130395 C . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.87 0.6666666666666666 Uncertain significance 0 -246107 Simple 138026880 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-01 -0.87 1.0 Uncertain significance 0 -246108 Simple 762828701 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -246114 Simple 41294982 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-19 -0.5700000000000001 1.5 Uncertain significance 0 -246118 Simple 587782144 G . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified 2017-07-16 -0.5700000000000001 1.0 Uncertain significance 0 -246121 Simple 879254109 - . Pathogenic 2 2 Charcot-Marie-Tooth disease, type I;not provided 2017-06-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -246129 Simple 879254113 T . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-25 20.7 1.0 Pathogenic 1 -246132 Simple 879254115 TT . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-07-14 -0.6 0.0 Uncertain significance 0 -246136 Simple 776560257 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-24 -0.87 0.6666666666666666 Uncertain significance 0 -246137 Simple 79678945 A . Benign/Likely benign 2 2 not specified 2017-03-21 -9.0 0.5 Benign/Likely benign 0 -246140 Simple 141702094 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.87 1.0 Uncertain significance 0 -246141 Simple 879254118 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -0.87 1.0 Uncertain significance 0 -246143 Simple 760122001 T . Uncertain significance 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-06-02 -0.6 0.0 Uncertain significance 0 -246146 Simple 371407163 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-27 -0.6 0.0 Uncertain significance 0 -246148 Simple 148383122 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-06-12 -0.5700000000000001 1.0 Uncertain significance 0 -246151 Simple 879254123 - . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-10-18 26.4 1.4 Pathogenic 0 -246152 Simple 879254124 C . Uncertain significance 2 2 not specified 2017-02-10 -0.5700000000000001 1.5 Uncertain significance 0 -246154 Simple 879254126 G . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-30 -0.87 1.0 Uncertain significance 0 -246160 Simple 879254130 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-25 -0.5700000000000001 1.5 Uncertain significance 0 -246163 Simple 879254131 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-01 -0.6 1.0 Uncertain significance 0 -246164 Simple 371608994 C . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-09-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246165 Simple 879254132 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -0.87 0.6666666666666666 Uncertain significance 0 -246168 Simple 879254134 C . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-05-03 -0.5700000000000001 1.0 Uncertain significance 0 -246169 Simple 879254135 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-06-17 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -246170 Simple 879254136 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-11-09 -0.5700000000000001 1.5 Uncertain significance 0 -246171 Simple 747483140 C . Uncertain significance 2 3 Colorectal cancer 10;not specified 2017-07-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -246172 Simple 879254137 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -246173 Simple 879254138 - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2017-06-06 11.4 1.0 Pathogenic/Likely pathogenic 1 -246174 Simple 748285767 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;not specified 2017-06-29 -3.57 1.0 Uncertain significance 2 -246176 Simple 879254139 A . Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-15 12.0 0.0 Pathogenic/Likely pathogenic 1 -246193 Simple 575937427 C . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type IV;not specified 2017-10-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -246203 Simple 116360781 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-02 -0.5700000000000001 1.0 Uncertain significance 0 -246205 Simple 876658741 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -246206 Simple 879254152 G . Uncertain significance 2 2 Lynch syndrome;not specified 2016-05-15 -0.5700000000000001 1.5 Uncertain significance 0 -246209 Simple 879254154 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-11 -0.87 1.0 Uncertain significance 0 -246221 Simple 863224682 T . Uncertain significance 2 3 Li-Fraumeni syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.87 1.0 Uncertain significance 0 -246233 Simple 879254168 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-02-16 -0.6 1.0 Uncertain significance 0 -246235 Simple 879254169 C . Likely pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2016-08-09 5.7 1.5 Likely pathogenic 0 -246238 Simple 879254172 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-08-11 -0.5700000000000001 1.0 Uncertain significance 0 -246239 Simple 879254173 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -0.5700000000000001 1.0 Uncertain significance 0 -246240 Simple 587780752 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-15 -0.87 1.3333333333333333 Uncertain significance 0 -246243 Simple 371831198 A . Uncertain significance 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-05-25 -0.5700000000000001 1.0 Uncertain significance 0 -246249 Simple 375972461 T . Uncertain significance 2 3 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-10-31 -0.8999999999999999 0.0 Uncertain significance 0 -246252 Simple 199743500 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-01-31 -1.17 1.25 Uncertain significance 0 -246254 Simple 749645694 C . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.87 1.0 Uncertain significance 0 -246255 Simple 5745081 C . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-30 -6.0 0.5 Likely benign 0 -246257 Simple 879254181 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -0.87 0.6666666666666666 Uncertain significance 0 -246260 Simple 760898812 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-08-01 -0.6 0.0 Uncertain significance 0 -246263 Simple 201273415 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-07 -0.6 0.0 Uncertain significance 0 -246264 Simple 879254183 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246267 Simple 141657198 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-13 -0.5700000000000001 1.0 Uncertain significance 0 -246275 Simple 879254189 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-16 8.7 1.5 Pathogenic/Likely pathogenic 0 -246278 Simple 761577371 T . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246279 Simple 547205132 A . Uncertain significance 2 2 not specified 2017-01-30 -0.6 1.0 Uncertain significance 0 -246282 Simple 747291494 A . Pathogenic 2 3 Giant axonal neuropathy;not specified;not provided 2017-08-08 17.4 1.0 Pathogenic 0 -246286 Simple 879254193 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -1.2 1.0 Uncertain significance 0 -246288 Simple 144693221 G . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 4 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -246292 Simple 879254198 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.87 1.0 Uncertain significance 0 -246295 Simple 121909093 A . Likely pathogenic 2 2 not provided;Sensorimotor neuropathy 2017-05-24 5.7 1.0 Likely pathogenic 0 -246301 Simple 748193367 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-08-20 -0.87 1.3333333333333333 Uncertain significance 0 -246304 Simple 766613900 T . Uncertain significance 2 3 not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -246308 Simple 530814648 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-10 -0.87 1.0 Uncertain significance 0 -246310 Simple 202155679 T . Uncertain significance 2 2 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified 2017-07-24 -0.6 0.5 Uncertain significance 0 -246313 Simple 748378612 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -246318 Simple 768950975 T . Uncertain significance 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-09 -1.1400000000000001 1.0 Uncertain significance 0 -246319 Simple 768504121 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-09-13 -0.6 0.5 Uncertain significance 0 -246321 Simple 753521037 C . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-03 -1.2 0.5 Uncertain significance 0 -246323 Simple 879254205 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-16 -0.5700000000000001 1.5 Uncertain significance 0 -246324 Simple 374464049 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.5 Uncertain significance 0 -246325 Simple 879254206 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-17 -0.5700000000000001 1.5 Uncertain significance 0 -246326 Simple 879254207 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-03-02 -0.5700000000000001 1.5 Uncertain significance 0 -246327 Simple 373272795 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-01-10 -0.87 1.3333333333333333 Uncertain significance 0 -246331 Simple 879254209 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-29 -0.6 1.0 Uncertain significance 0 -246332 Simple 200796501 A . Likely benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-03-13 -6.0 0.5 Likely benign 0 -246339 Simple 367603277 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -0.87 1.0 Uncertain significance 0 -246340 Simple 201010746 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-05-16 -0.5700000000000001 1.0 Uncertain significance 0 -246341 Simple 147389443 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-01-04 -0.87 1.3333333333333333 Uncertain significance 0 -246343 Simple 879254214 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-25 -0.5700000000000001 1.5 Uncertain significance 0 -246345 Simple 148382941 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-06 -0.5700000000000001 1.0 Uncertain significance 0 -246352 Simple 879254218 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-30 -0.5700000000000001 1.0 Uncertain significance 0 -246357 Simple 879254221 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-08-01 -0.6 0.5 Uncertain significance 0 -246358 Simple 149145495 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-10-23 -0.6 0.0 Uncertain significance 0 -246360 Simple 879254223 - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2016-01-26 9.0 3.5 Pathogenic/Likely pathogenic 1 -246362 Simple 879254224 - . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-08-31 -0.5700000000000001 1.5 Uncertain significance 0 -246364 Simple 746265230 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-17 -0.87 0.6666666666666666 Uncertain significance 0 -246365 Simple 375611746 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246366 Simple 771744496 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -246367 Simple 199904481 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -0.5700000000000001 1.0 Uncertain significance 0 -246368 Simple 879254225 G . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -246371 Simple 863224462 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-15 -0.6 1.0 Uncertain significance 0 -246374 Simple 139522696 C . Uncertain significance 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-08-03 -1.2 0.75 Uncertain significance 0 -246376 Simple 773658296 T . Uncertain significance 2 4 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -1.17 1.25 Uncertain significance 0 -246385 Simple 879254231 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-23 -0.5700000000000001 1.5 Uncertain significance 0 -246386 Simple 879254232 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-10-16 -0.5700000000000001 1.5 Uncertain significance 0 -246387 Simple 371612922 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -0.8999999999999999 0.0 Uncertain significance 0 -246388 Simple 879254233 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-27 -0.5700000000000001 1.5 Uncertain significance 0 -246395 Simple 140539427 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246396 Simple 879254238 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -246398 Simple 879254240 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-07 -0.5700000000000001 1.5 Uncertain significance 0 -246400 Simple 879254241 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-28 -0.6 0.5 Uncertain significance 0 -246403 Simple 867893961 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.87 0.6666666666666666 Uncertain significance 0 -246404 Simple 371862779 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-14 -0.6 0.0 Uncertain significance 0 -246405 Simple 760515128 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.5700000000000001 1.0 Uncertain significance 0 -246407 Simple 879254244 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-01 -0.5700000000000001 1.5 Uncertain significance 0 -246410 Simple 767841041 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -0.87 1.3333333333333333 Uncertain significance 0 -246416 Simple 879254249 C . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -246421 Simple 779611511 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -246424 Simple 774502617 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -0.5700000000000001 1.0 Uncertain significance 0 -246425 Simple 773204331 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-06-21 -0.5700000000000001 1.5 Uncertain significance 0 -246429 Simple 769270327 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -246430 Simple 374428362 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-04 -0.6 0.5 Uncertain significance 0 -246435 Simple 372178531 T . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -1.17 0.5 Uncertain significance 0 -246437 Simple 750655995 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-10 -0.87 1.3333333333333333 Uncertain significance 0 -246438 Simple 746090916 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -0.8999999999999999 0.0 Uncertain significance 0 -246444 Simple 553342844 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-05-24 -0.5700000000000001 1.0 Uncertain significance 0 -246445 Simple 879254262 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246448 Simple 779974365 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-30 -0.87 1.3333333333333333 Uncertain significance 0 -246452 Simple 746311547 C . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-21 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -246458 Simple 373970237 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-04-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -246459 Simple 769233029 A . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2016-05-12 -0.5700000000000001 1.5 Uncertain significance 0 -246461 Simple 879254268 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246462 Simple 149279923 G . Likely benign 2 2 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-02-09 -6.0 1.0 Likely benign 0 -246467 Simple 879254273 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -246468 Simple 879254274 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -246476 Simple 879254280 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-11 9.0 0.0 Pathogenic/Likely pathogenic 0 -246477 Simple 546499094 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-15 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246482 Simple 750174880 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -0.87 1.0 Uncertain significance 0 -246487 Simple 879254286 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-04-21 -0.6 0.5 Uncertain significance 0 -246491 Simple 747559034 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-06 -0.6 0.0 Uncertain significance 0 -246496 Simple 754738085 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246498 Simple 879254289 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-21 -1.2 0.5 Uncertain significance 0 -246501 Simple 80358189 A . Pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided 2017-05-24 17.4 1.0 Pathogenic 0 -246503 Simple 757080586 T . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -0.8999999999999999 0.0 Uncertain significance 0 -246506 Simple 746087148 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -0.6 0.5 Uncertain significance 0 -246508 Simple 138345244 T . Uncertain significance 2 3 not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -246509 Simple 147314661 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-10-13 -0.6 0.0 Uncertain significance 0 -246510 Simple 587782173 A . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-04 6.0 1.0 Likely pathogenic 0 -246511 Simple 774732579 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -0.6 0.0 Uncertain significance 0 -246514 Simple 768668529 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-24 -0.6 0.5 Uncertain significance 0 -246517 Simple 397509157 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-18 -0.5700000000000001 1.5 Uncertain significance 0 -246523 Simple 143421325 A . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-08-04 -6.0 0.5 Likely benign 0 -246534 Simple 373049874 A . Uncertain significance 2 7 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2016-06-14 -2.1 1.0 Uncertain significance 0 -246535 Simple 371048016 A . Uncertain significance 2 2 Neuromyotonia and axonal neuropathy, autosomal recessive;not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -246541 Simple 371696267 T . Uncertain significance 2 2 not specified 2017-02-02 -0.6 1.0 Uncertain significance 0 -246560 Simple 201805333 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2016-11-14 -0.6 1.0 Uncertain significance 0 -246568 Simple 139967004 A . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 4 2016-06-14 -0.6 1.0 Uncertain significance 0 -246570 Simple 149824485 A . Uncertain significance 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-10-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -246587 Simple 781871113 G . Uncertain significance 2 2 not specified 2017-07-11 -0.5700000000000001 1.0 Uncertain significance 0 -246599 Simple 149412531 T . Uncertain significance 2 3 Berardinelli-Seip congenital lipodystrophy;Neurologic Disorders/Seipinopathy;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -246611 Simple 142959373 G . Benign/Likely benign 2 4 Fanconi anemia;VACTERL association with hydrocephalus;not provided;Fanconi Anemia, X-Linked 2017-07-05 -15.0 0.75 Benign/Likely benign 0 -246612 Simple 145110602 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-04-18 -8.7 1.0 Benign/Likely benign 0 -246615 Simple 143131218 C . Benign/Likely benign 2 4 Fanconi anemia;VACTERL association with hydrocephalus;not specified;Fanconi Anemia, X-Linked 2017-04-06 -14.4 1.0 Benign/Likely benign 0 -246621 Simple 45499391 A . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-05-13 -5.7 1.5 Likely benign 0 -246624 Simple 201180585 A . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-01-13 -5.4 2.0 Likely benign 0 -246625 Simple 45585831 G . Uncertain significance 2 3 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-12-09 -0.87 1.3333333333333333 Uncertain significance 0 -246627 Simple 753407699 T . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-05 -0.5700000000000001 1.0 Uncertain significance 0 -246630 Simple 141733128 A . Likely benign 2 1 Renal cell carcinoma, papillary, 1;not specified 2016-08-02 . 1.0 . 0 -246636 Simple 771328219 C . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-10-26 -0.6 1.0 Uncertain significance 0 -246637 Simple 752641437 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.0 Uncertain significance 0 -246638 Simple 774038166 T . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-19 -6.0 0.5 Likely benign 0 -246645 Simple 752791731 T . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-11-02 -0.5700000000000001 1.5 Uncertain significance 0 -246647 Simple 879254342 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;not specified 2017-04-25 -0.6 0.5 Uncertain significance 0 -246658 Simple 146737031 T . Likely benign 2 5 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy, ARVC 2016-11-16 -15.0 1.0 Benign/Likely benign 1 -246659 Simple 772925425 T . Likely benign 2 3 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified;Cardiovascular phenotype 2016-05-09 -8.7 1.3333333333333333 Benign/Likely benign 1 -250924 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -250925 Simple 17249134 T . Benign/Likely benign 2 3 Familial hypercholesterolemia 2016-11-04 -14.4 1.3333333333333333 Benign/Likely benign 0 -250932 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -250934 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -250940 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -250945 Simple 879254367 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -250948 Simple 879254370 T . Uncertain significance 2 2 Familial hypercholesterolemia 2016-03-25 -0.5700000000000001 1.5 Uncertain significance 0 -250951 Simple 879254371 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -250955 Simple 879254374 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -250956 Simple 879254375 G . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia 2017-03-30 26.1 1.2857142857142858 Pathogenic 1 -250961 Simple 763282380 C . Uncertain significance 2 2 Familial hypercholesterolemia 2016-03-25 -0.5700000000000001 1.5 Uncertain significance 0 -250966 Simple 879254382 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -250969 Simple 879254383 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 9.0 1.0 Pathogenic/Likely pathogenic 0 -250972 Simple 879254384 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -250973 Simple 201016593 A . Pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 17.4 1.3333333333333333 Pathogenic 0 -250975 Simple 879254386 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -250976 Simple 879254386 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 1 -250977 Simple 879254387 CGTCCGTC . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -250979 Simple 879254389 TT . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -250987 Simple 879254394 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -250989 Simple . . . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 9.0 1.0 Pathogenic/Likely pathogenic 0 -250992 Simple 879254396 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -250993 Simple 879254396 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 9.0 1.0 Pathogenic/Likely pathogenic 0 -251005 Simple 879254397 C . Pathogenic 2 3 Familial hypercholesterolemia;not provided 2017-10-23 17.4 1.0 Pathogenic 0 -251008 Simple 879254400 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251009 Simple 2228671 A . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -251010 Simple 2228671 T . Benign/Likely benign 2 5 Familial hypercholesterolemia;not specified 2017-06-01 -26.4 1.0 Benign 1 -251014 Simple 776421777 T . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -251018 Simple 879254405 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251023 Simple 879254409 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251024 Simple 879254410 AA . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251025 Simple 879254411 AA . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251026 Simple 879254412 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251028 Simple 751317621 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251030 Simple 879254415 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251033 Simple 387906301 - . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -251038 Simple 879254418 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251039 Simple 879254419 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251041 Simple 879254421 - . Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251046 Simple 879254426 C . Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -251050 Simple 879254429 TGTG . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.7 1.5 Pathogenic/Likely pathogenic 0 -251054 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251057 Simple 879254432 CT . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251071 Simple 879254433 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -251078 Simple 879254438 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251079 Simple 879254439 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-05-16 9.0 0.5 Pathogenic/Likely pathogenic 0 -251084 Simple 879254442 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251086 Simple 879254443 TT . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251090 Simple 879254446 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251091 Simple 879254447 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251092 Simple 879254448 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251097 Simple 879254451 - . Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-11-21 6.0 1.0 Likely pathogenic 0 -251099 Simple 879254453 AG . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251100 Simple 199570811 A . Pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 16.8 1.6666666666666667 Pathogenic 0 -251102 Simple 879254455 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 8.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -251103 Simple 879254455 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251104 Simple 777640882 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251106 Simple 749038326 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251107 Simple 372828849 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -251116 Simple 372845091 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251121 Simple 879254459 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251125 Simple 144172724 T . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251128 Simple 879254463 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251133 Simple 879254466 GG . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -251134 Simple 112029328 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251135 Simple 793888517 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251140 Simple . . . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 9.0 1.0 Pathogenic/Likely pathogenic 0 -251142 Simple 879254470 C . Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251148 Simple 879254471 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251149 Simple 879254472 . . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251150 Simple 879254473 CC . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251151 Simple 879254474 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251154 Simple 879254476 TC . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251156 Simple 140807148 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 14.7 1.0 Pathogenic/Likely pathogenic 0 -251157 Simple 121908042 T . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 14.7 1.0 Pathogenic/Likely pathogenic 0 -251160 Simple 879254480 . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251163 Simple 879254482 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251165 Simple 879254484 . . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251168 Simple 879254487 . . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251174 Simple 879254492 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 14.7 1.0 Pathogenic/Likely pathogenic 0 -251182 Simple 879254496 - . Pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 17.4 1.3333333333333333 Pathogenic 0 -251183 Simple 879254497 . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251188 Simple 879254500 CTGA . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -251192 Simple 879254504 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251193 Simple 879254505 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251206 Simple 879254516 T . Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -251207 Simple 730882082 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251208 Simple 755799528 G . Pathogenic 2 2 Familial hypercholesterolemia 2017-07-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -251209 Simple 879254517 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -251211 Simple 879254518 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251212 Simple 879254518 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251213 Simple 748944640 A . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia 2017-03-30 26.1 1.2857142857142858 Pathogenic 1 -251216 Simple 879254520 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2016-12-16 15.0 1.0 Pathogenic 1 -251218 Simple 879254521 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251219 Simple 875989901 C . Likely pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -251220 Simple 879254522 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 1 -251223 Simple 879254524 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251224 Simple 879254525 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 14.7 1.0 Pathogenic/Likely pathogenic 0 -251225 Simple 879254526 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 1 -251227 Simple 879254526 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 1 -251229 Simple 879254529 T . Uncertain significance 2 2 Familial hypercholesterolemia 2016-11-05 -0.6 1.0 Uncertain significance 0 -251231 Simple 879254530 CC . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251232 Simple 879254531 - . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251237 Simple 879254534 T . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 1 -251239 Simple 879254535 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251240 Simple 879254536 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251242 Simple 766094434 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251244 Simple 879254538 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251245 Simple 763998635 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251247 Simple 879254540 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251249 Simple 879254541 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251250 Simple 879254542 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251251 Simple 879254543 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 6.0 0.5 Likely pathogenic 0 -251257 Simple 752596535 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251258 Simple 200727689 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251261 Simple 777321035 A . Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251265 Simple 879254553 CC . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251266 Simple 879254554 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251268 Simple 879254554 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251269 Simple 879254555 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251272 Simple 879254558 C . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251274 Simple 879254559 - . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -251276 Simple 769318035 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -251277 Simple 769318035 G . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia;not provided 2017-03-30 21.0 0.25 Pathogenic 1 -251281 Simple 879254563 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251283 Simple 879254565 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251284 Simple 879254565 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251286 Simple 875989902 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 11.7 1.0 Pathogenic/Likely pathogenic 0 -251287 Simple 879254566 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251289 Simple 879254567 T . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251291 Simple 879254569 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -251294 Simple 879254572 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251299 Simple 121908034 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251302 Simple 879254578 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251304 Simple 879254580 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251308 Simple 730882085 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia;not provided 2017-04-20 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251309 Simple 376459828 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -251312 Simple 748672083 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251319 Simple 879254591 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251320 Simple 879254592 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251322 Simple 879254592 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251323 Simple 879254593 AA . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -251324 Simple 879254594 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251329 Simple 879254597 T . Pathogenic 2 2 Familial hypercholesterolemia 2017-04-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -251331 Simple 879254599 TGTG . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251332 Simple 879254600 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 14.7 1.0 Pathogenic/Likely pathogenic 0 -251335 Simple 771917370 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251336 Simple 879254602 - . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251339 Simple 879254605 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251344 Simple 879254609 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251345 Simple 879254610 C . Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -251346 Simple 879254611 A . Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -251349 Simple 879254613 - . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251352 Simple 879254616 - . Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251356 Simple 875989906 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -251357 Simple 373822756 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251358 Simple 879254620 . . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-07-31 11.7 1.0 Pathogenic/Likely pathogenic 0 -251362 Simple 730882086 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251363 Simple 879254623 . . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251365 Simple 756613387 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251366 Simple 879254624 . . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251367 Simple 387906306 AGGACAAATCTGACAGGACAAATCTGAC . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251369 Simple 879254626 GGACAAATCTGAGGACAAATCTGA . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-03 6.0 1.0 Likely pathogenic 0 -251370 Simple 879254627 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251376 Simple 879254620 CAAATCTGACGACAAATCTGACGA . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251377 Simple 387906306 AAATCTGACAAATCTGAC . Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -251382 Simple 879254633 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251384 Simple 879254635 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251385 Simple 879254636 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251387 Simple 879254637 . . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251389 Simple 387906306 TGAG . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251391 Simple 879254640 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251393 Simple 121908029 C . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-08-15 20.7 0.8 Pathogenic 1 -251394 Simple 879254642 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251396 Simple 746091400 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251397 Simple 746091400 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251399 Simple 879254645 . . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -251400 Simple 121908035 G . Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -251403 Simple 879254646 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251409 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251417 Simple . . . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251422 Simple 768563000 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-26 12.0 1.0 Pathogenic/Likely pathogenic 1 -251424 Simple 879254658 T . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 0 -251430 Simple 879254663 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251434 Simple 879254666 GG . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -251437 Simple 879254667 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 15.0 0.75 Pathogenic 1 -251444 Simple 879254670 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251449 Simple 879254672 T . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251451 Simple 879254674 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251463 Simple 879254682 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -251468 Simple 202213054 C . Uncertain significance 2 2 Familial hypercholesterolemia 2016-11-05 -0.6 1.0 Uncertain significance 0 -251469 Simple 879254685 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 9.0 1.0 Pathogenic/Likely pathogenic 0 -251471 Simple 879254687 G . Pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 16.8 1.6666666666666667 Pathogenic 0 -251473 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251475 Simple 879254688 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251479 Simple 879254692 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251480 Simple 879254692 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -251482 Simple 146651743 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 11.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251488 Simple 140241383 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 15.0 0.75 Pathogenic 1 -251489 Simple 375495026 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -251490 Simple 368657165 T . Pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 17.4 1.3333333333333333 Pathogenic 0 -251491 Simple 879254696 - . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -251495 Simple 879254700 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251496 Simple 879254701 TT . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251499 Simple 879254704 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251500 Simple 879254705 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251502 Simple 879254707 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 1 -251507 Simple 879254711 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251509 Simple 879254712 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251514 Simple 879254714 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -251516 Simple 879254716 G . Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251517 Simple 121908030 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -251522 Simple 879254718 TCAGTCAG . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251524 Simple 11547917 G . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251527 Simple 879254720 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251530 Simple 879254723 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251534 Simple 879254725 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251535 Simple 879254726 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251539 Simple 13306512 A . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -251540 Simple 13306512 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 1 -251541 Simple 879254729 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251542 Simple 879254729 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 21.0 0.75 Pathogenic 1 -251543 Simple 875989912 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -251554 Simple 112366278 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 0 -251561 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251566 Simple 730882094 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251567 Simple 746834464 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251568 Simple 746834464 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251570 Simple 879254738 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2017-09-15 9.0 0.5 Pathogenic/Likely pathogenic 0 -251572 Simple 879254739 T . Likely pathogenic 2 4 Familial hypercholesterolemia 2016-11-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -251574 Simple 879254741 - . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251575 Simple 879254742 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251578 Simple 879254744 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251579 Simple 879254745 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251580 Simple 879254746 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251581 Simple 879254747 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251585 Simple 879254749 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251586 Simple 761954844 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251587 Simple 869320650 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -251588 Simple 879254750 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251589 Simple 767024374 A . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -251590 Simple 879254751 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251592 Simple 879254753 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251595 Simple 879254754 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251597 Simple 879254756 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251598 Simple 879254757 GG . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251599 Simple 879254758 TG . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -251606 Simple 879254760 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251607 Simple 879254761 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -251610 Simple 879254764 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -251612 Simple 879254765 - . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251615 Simple 879254768 ATGCGAAGATGCGAAG . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251617 Simple 879254769 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251618 Simple 879254769 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -251620 Simple 879254770 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251621 Simple 13306515 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -251622 Simple 13306515 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251623 Simple 879254771 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251633 Simple . . . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251636 Simple 879254774 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -251637 Simple 879254774 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251638 Simple 755449669 C . Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 1 -251639 Simple 755449669 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 1 -251640 Simple 755449669 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-01-11 6.0 1.0 Likely pathogenic 1 -251645 Simple 879254777 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251646 Simple 879254778 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 0 -251648 Simple 879254780 . . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251649 Simple 879254781 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -251655 Simple 879254786 - . Pathogenic 2 4 Familial hypercholesterolemia 2016-12-16 23.4 1.25 Pathogenic 0 -251658 Simple 879254788 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251663 Simple 879254790 GT . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -251666 Simple 768430352 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 1 -251667 Simple 113669610 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251672 Simple 879254796 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251673 Simple 879254797 A . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 17.4 1.2 Pathogenic 1 -251676 Simple 879254799 GGCTGGCT . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251679 Simple 879254800 G . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 14.7 1.0 Pathogenic/Likely pathogenic 0 -251681 Simple 879254801 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -251685 Simple 879254803 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2016-05-28 19.8 1.5 Pathogenic 1 -251686 Simple 879254804 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251688 Simple 879254805 T . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251689 Simple 879254806 - . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251690 Simple 879254807 C . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251697 Simple 879254814 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251698 Simple 879254815 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251699 Simple 750649426 A . Pathogenic/Likely pathogenic 2 7 Familial hypercholesterolemia 2017-03-30 40.2 1.2857142857142858 Pathogenic 1 -251705 Simple 730880131 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251711 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251712 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251713 Simple 879254823 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia;not provided 2017-03-13 14.4 1.0 Pathogenic/Likely pathogenic 0 -251723 Simple 879254824 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251728 Simple 879254827 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251730 Simple 879254829 - . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251733 Simple 879254832 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251734 Simple 879254833 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -251736 Simple 879254835 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251738 Simple 879254837 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251739 Simple 879254838 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 6.0 0.5 Likely pathogenic 0 -251740 Simple 879254838 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251743 Simple 879254840 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251745 Simple 879254842 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251747 Simple 748554592 G . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251748 Simple 879254844 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251752 Simple 773658037 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia;not provided 2016-12-13 11.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251753 Simple 773658037 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 1 -251757 Simple 774439908 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251758 Simple 774439908 G . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251760 Simple 879254849 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251783 Simple 879254862 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251784 Simple 5933 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251787 Simple 879254864 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -251788 Simple 879254865 G . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251791 Simple 879254867 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251792 Simple 879254867 C . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia;not provided 2017-05-26 21.0 0.6 Pathogenic 1 -251793 Simple 879254867 T . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -251795 Simple 879254868 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251798 Simple 879254871 T . Pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 28.8 1.2 Pathogenic 0 -251799 Simple 879254872 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251801 Simple 879254874 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2016-12-16 11.4 1.5 Pathogenic/Likely pathogenic 0 -251802 Simple 775924858 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -251806 Simple 1003723 T . Benign 2 3 Familial hypercholesterolemia 2016-03-25 -16.8 1.6666666666666667 Benign/Likely benign 1 -251811 Simple 139617694 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251812 Simple 879254879 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251814 Simple 879254881 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251816 Simple 879254883 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251818 Simple 879254884 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251820 Simple 879254885 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251825 Simple 879254888 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -251830 Simple 879254892 ACATACAT . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251832 Simple 879254894 G . Benign/Likely benign 2 2 Familial hypercholesterolemia 2016-03-25 -8.4 1.5 Benign/Likely benign 0 -251835 Simple 879254896 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251836 Simple 879254897 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251839 Simple 879254899 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251840 Simple 879254900 C . Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 8.7 1.0 Pathogenic/Likely pathogenic 1 -251847 Simple 879254905 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2017-03-15 6.0 0.5 Likely pathogenic 1 -251849 Simple 879254907 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251856 Simple 879254913 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251857 Simple 879254913 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 8.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -251865 Simple 879254918 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 1 -251866 Simple 879254919 AGAGACA . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -251867 Simple 751603969 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251868 Simple 879254920 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251871 Simple 879254922 - . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -251872 Simple 879254923 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251874 Simple 755667663 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia;not provided 2017-08-30 12.0 0.3333333333333333 Pathogenic/Likely pathogenic 0 -251875 Simple 879254924 CC . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251878 Simple 730882103 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251886 Simple 755154048 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -251889 Simple 879254933 AA . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251890 Simple 879254934 A . Likely benign 2 2 Familial hypercholesterolemia 2016-11-05 -6.0 1.0 Likely benign 0 -251891 Simple 147896205 T . Benign/Likely benign 2 2 Familial hypercholesterolemia 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -251892 Simple 879254935 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251896 Simple 875989923 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251897 Simple 879254939 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251901 Simple 879254942 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251905 Simple 755389753 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251907 Simple 879254945 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251908 Simple 879254945 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 14.4 1.0 Pathogenic/Likely pathogenic 0 -251912 Simple 879254947 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -251925 Simple 879254951 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 1 -251927 Simple 879254952 A . Pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 16.8 1.6666666666666667 Pathogenic 0 -251931 Simple 879254956 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251932 Simple 879254957 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251933 Simple 879254958 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251934 Simple 879254959 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251936 Simple 5929 T . Benign/Likely benign 2 5 Familial hypercholesterolemia;not specified 2017-06-22 -26.4 1.0 Benign 1 -251937 Simple 879254961 - . Uncertain significance 2 2 Familial hypercholesterolemia 2016-03-25 -0.5700000000000001 1.5 Uncertain significance 0 -251939 Simple 879254962 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251940 Simple 879254963 . . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251941 Simple 879254964 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -251942 Simple 879254965 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 18.0 0.75 Pathogenic 1 -251944 Simple 879254965 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251948 Simple 879254967 AGCGTCATCTTCCTGAC . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251952 Simple 879254970 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251958 Simple 879254975 ATACTTTCA . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251961 Simple 879254977 GCTGGTGAGCTGGTGA . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251962 Simple 879254978 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -251964 Simple 879254980 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -251965 Simple 879254981 T . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -251969 Simple 879254985 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 1 -251970 Simple 879254986 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251972 Simple 879254988 CC . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -251973 Simple 397509365 G . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -251974 Simple 879254989 GCCCAAT . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -251976 Simple 746959386 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251977 Simple 879254991 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -251979 Simple 879254993 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -251980 Simple 875989926 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251981 Simple 875989926 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -251982 Simple 879254994 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -251985 Simple 7259278 T . Benign 2 2 Familial hypercholesterolemia 2016-03-25 -11.4 1.5 Benign/Likely benign 1 -251987 Simple 878854027 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -251995 Simple 879254998 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -251997 Simple 1799898 T . Benign/Likely benign 2 5 Familial hypercholesterolemia;not specified 2017-06-22 -25.8 1.2 Benign 1 -252000 Simple 879255000 G . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-01-22 14.4 1.25 Pathogenic/Likely pathogenic 0 -252001 Simple 879255000 C . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -252003 Simple 138947766 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -252004 Simple 875989928 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia;not provided 2017-01-10 11.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -252006 Simple 875989929 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-06-09 9.0 1.0 Pathogenic/Likely pathogenic 0 -252008 Simple 879255003 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -252010 Simple 879255005 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -252012 Simple 879255007 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -252013 Simple 879255008 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -252016 Simple 879255011 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -252019 Simple 879255013 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252025 Simple 879255017 - . Pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 17.4 1.3333333333333333 Pathogenic 0 -252037 Simple 879255026 T . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -252040 Simple 879255027 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -252044 Simple 879255031 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.7 1.5 Pathogenic/Likely pathogenic 0 -252045 Simple 879255032 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252049 Simple 879255034 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -252050 Simple 879255035 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -252053 Simple 879255037 - . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -252054 Simple 879255038 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 1 -252055 Simple 879255038 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -252058 Simple 879255041 C . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -252063 Simple 879255045 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 1 -252064 Simple 879255046 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -252065 Simple 879255047 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -252066 Simple 879255048 - . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -252067 Simple 879255049 A . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -252068 Simple 879255049 C . Pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 28.8 1.2 Pathogenic 0 -252069 Simple 879255049 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 9.0 1.0 Pathogenic/Likely pathogenic 0 -252070 Simple 778408161 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -252074 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252078 Simple . . . Pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 16.8 1.6666666666666667 Pathogenic 0 -252079 Simple 879255051 A . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 29.4 1.0 Pathogenic 1 -252084 Simple 879255054 C . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -252085 Simple 879255054 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -252087 Simple 879255056 A . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 0 -252089 Simple 875989933 A . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -252090 Simple 875989933 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -252091 Simple 879255058 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -252092 Simple 879255059 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -252097 Simple 879255062 - . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2017-03-30 17.4 1.2 Pathogenic 1 -252101 Simple 879255066 A . Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -252102 Simple 875989934 T . Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -252104 Simple 879255068 - . Pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 17.4 1.3333333333333333 Pathogenic 0 -252116 Simple 879255076 AA . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -252119 Simple 879255078 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252120 Simple 879255079 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -252125 Simple 879255084 GAGGAGAGGA . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -252131 Simple 5925 C . Benign/Likely benign 2 5 Familial hypercholesterolemia;not specified 2017-06-22 -26.4 1.0 Benign 1 -252133 Simple 879255088 TCTTCTCTTC . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -252138 Simple 879255092 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -252142 Simple 72658866 A . Likely benign 2 3 Familial hypercholesterolemia 2016-03-25 -8.4 1.6666666666666667 Benign/Likely benign 1 -252153 Simple 879255101 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -252158 Simple 879255105 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252161 Simple 752935814 A . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -252163 Simple 150021927 C . Pathogenic/Likely pathogenic 2 5 Familial hypercholesterolemia 2016-12-16 14.4 1.4 Pathogenic/Likely pathogenic 0 -252167 Simple 879255109 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252168 Simple 879255109 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -252171 Simple 879255112 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252173 Simple 770744861 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 0 -252177 Simple 879255113 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -252179 Simple 879255114 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252183 Simple 760436036 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -252186 Simple 201637900 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -252192 Simple 774730452 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 1 -252194 Simple 2569548 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -252199 Simple 879255126 T . Pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 17.4 1.3333333333333333 Pathogenic 0 -252203 Simple 879255129 AA . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252205 Simple 879255130 - . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 24.0 0.75 Pathogenic 0 -252206 Simple 369943481 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -252207 Simple 879255131 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252209 Simple 879255133 . . Pathogenic 2 3 Familial hypercholesterolemia 2016-12-16 17.4 1.3333333333333333 Pathogenic 0 -252210 Simple 879255134 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -252212 Simple 112954220 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -252214 Simple 879255135 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252215 Simple 879255136 A . Likely pathogenic 2 4 Familial hypercholesterolemia 2016-11-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -252216 Simple 879255136 T . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -252227 Simple 879255143 T . Likely pathogenic 2 3 Familial hypercholesterolemia;not provided 2017-09-08 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -252229 Simple 879255145 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 6.0 1.0 Likely pathogenic 1 -252237 Simple 879255147 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-11-05 9.0 1.0 Pathogenic/Likely pathogenic 0 -252244 Simple 879255152 T . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 0 -252249 Simple 879255157 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252251 Simple 879255159 - . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 18.0 0.6666666666666666 Pathogenic 0 -252255 Simple 879255163 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252256 Simple 879255164 TT . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252262 Simple 5927 G . Benign/Likely benign 2 5 Familial hypercholesterolemia;not specified 2017-06-01 -26.4 1.0 Benign 1 -252264 Simple 879255169 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252265 Simple 759440817 C . Benign/Likely benign 2 2 Familial hypercholesterolemia 2016-03-25 -8.4 1.5 Benign/Likely benign 0 -252272 Simple 879255175 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252274 Simple 879255175 T . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -252275 Simple 879255176 G . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 20.4 1.0 Pathogenic 1 -252281 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252283 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252288 Simple 879255180 C . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252297 Simple 879255185 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252300 Simple 879255186 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -252302 Simple 879255188 G . Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-25 . 1.0 . 0 -252303 Simple 879255189 C . Uncertain significance 2 2 Familial hypercholesterolemia 2016-03-25 -0.5700000000000001 1.5 Uncertain significance 0 -252312 Simple 183496025 A . Likely benign 2 2 Familial hypercholesterolemia 2016-03-25 -5.7 1.5 Likely benign 0 -252313 Simple 767790696 G . Pathogenic 2 3 Familial hypercholesterolemia 2016-11-26 17.4 1.3333333333333333 Pathogenic 0 -252316 Simple 879255193 A . Pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 17.4 1.3333333333333333 Pathogenic 0 -252317 Simple 879255193 C . Pathogenic/Likely pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 1 -252318 Simple 879255194 - . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 6.0 1.0 Likely pathogenic 0 -252320 Simple 879255196 G . Likely pathogenic 2 3 Familial hypercholesterolemia 2016-11-05 8.7 1.3333333333333333 Pathogenic/Likely pathogenic 1 -252322 Simple 879255198 GGGT . Pathogenic 2 3 Familial hypercholesterolemia 2016-03-25 16.8 1.6666666666666667 Pathogenic 0 -252328 Simple 879255204 A . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 5.7 1.5 Likely pathogenic 0 -252329 Simple 879255205 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -252331 Simple 879255207 G . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -252335 Simple 879255210 A . Pathogenic 2 2 Familial hypercholesterolemia;not provided 2017-02-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -252336 Simple 879255211 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252338 Simple 879255213 T . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -252341 Simple 374045590 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 11.7 1.0 Pathogenic/Likely pathogenic 0 -252342 Simple 879255216 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252343 Simple 879255217 A . Pathogenic/Likely pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -252348 Simple 879255221 - . Pathogenic 2 4 Familial hypercholesterolemia 2017-03-30 23.4 1.0 Pathogenic 0 -252349 Simple 879255222 CC . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -252351 Simple 879255223 - . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 8.4 1.5 Pathogenic/Likely pathogenic 0 -252352 Simple 879255224 A . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -252355 Simple 6413504 G . Benign 2 2 Familial hypercholesterolemia 2016-03-25 -11.4 1.5 Benign/Likely benign 1 -252379 Simple 879255281 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-10-18 16.8 2.0 Pathogenic 0 -252381 Simple 80358066 C . Pathogenic 2 2 Breast-ovarian cancer, familial 1 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -252382 Simple 431825390 CACA . Pathogenic 2 4 Familial cancer of breast;Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-11-28 22.2 1.75 Pathogenic 0 -252383 Simple 753099787 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-08-22 -0.5700000000000001 1.5 Uncertain significance 0 -252384 Simple 767666190 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-07 -0.87 0.6666666666666666 Uncertain significance 0 -252385 Simple 879255283 - . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 27.0 0.8 Pathogenic 0 -252390 Simple 879255288 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-04-04 -0.6 0.5 Uncertain significance 0 -252391 Simple 879255289 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-01-19 -0.6 1.0 Uncertain significance 0 -252399 Simple 879255295 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-10-18 15.0 1.3333333333333333 Pathogenic 0 -252400 Simple 762635795 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 1.0 Pathogenic 0 -252401 Simple 760109939 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome 2016-12-16 -0.87 1.3333333333333333 Uncertain significance 0 -252405 Simple 544942885 G . Uncertain significance 2 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 -1.2 0.5 Uncertain significance 0 -252408 Simple 730881580 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.6 0.3333333333333333 Likely benign 0 -252409 Simple 80358745 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-05-26 -0.6 1.0 Uncertain significance 0 -252412 Simple 747726394 T . Likely benign 3 2 Breast-ovarian cancer, familial 2 2017-06-29 -3.5999999999999996 0.5 Uncertain significance 2 -252415 Simple 397507271 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-08 -0.5700000000000001 1.5 Uncertain significance 0 -252419 Simple 879255306 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided 2016-10-18 20.4 1.5 Pathogenic 0 -252420 Simple 750833754 AAAAAA . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-06-08 -0.6 1.0 Uncertain significance 0 -252422 Simple 879255307 - . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.87 1.0 Uncertain significance 0 -252423 Simple 879255308 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -252424 Simple 879255309 T . Pathogenic/Likely pathogenic 2 1 Hereditary breast and ovarian cancer syndrome;not provided;Neoplasm of the breast 2017-04-04 . 0.0 . 0 -252425 Simple 879255310 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -252426 Simple 879255311 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -252435 Simple 879255319 A . Pathogenic 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-01 12.0 1.0 Pathogenic/Likely pathogenic 1 -252436 Simple 879255320 - . Pathogenic 2 3 Familial cancer of breast;not specified;not provided 2017-03-28 18.0 0.6666666666666666 Pathogenic 0 -252442 Simple 879255326 - . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-01 9.0 1.0 Pathogenic/Likely pathogenic 0 -252446 Simple 879255330 - . Pathogenic 3 5 Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.6 1.8 Pathogenic 0 -252462 Simple 74824159 T . Benign/Likely benign 2 5 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-10-12 -23.4 0.6 Benign/Likely benign 0 -252463 Simple 118066140 A . Benign/Likely benign 2 5 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified;not provided 2017-08-07 -20.4 0.8 Benign/Likely benign 0 -252465 Simple 11547387 G . Benign/Likely benign 2 3 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative;not specified 2017-07-10 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -252467 Simple 139850074 T . Uncertain significance 2 3 Glycogen storage disease, type II;not specified 2017-07-18 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -252469 Simple 114013791 A . Benign/Likely benign 2 3 Atypical hemolytic uremic syndrome;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -252471 Simple 144405201 C . Uncertain significance 2 2 not specified;Severe Combined Immune Deficiency 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -252472 Simple 879255341 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-11 -0.5700000000000001 1.5 Uncertain significance 0 -252476 Simple 376886420 G . Uncertain significance 2 2 Retinoblastoma 2017-05-25 -0.5700000000000001 1.0 Uncertain significance 0 -252477 Simple 199676994 G . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-05-03 -23.4 1.0 Benign/Likely benign 0 -252480 Simple 142114415 T . Uncertain significance 2 2 Familial hypercholesterolemia 2016-03-01 -0.54 2.0 Uncertain significance 0 -252488 Simple 146361173 T . Uncertain significance 2 2 not specified;Malignant hypothermia 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -252505 Simple 144215383 A . Benign/Likely benign 2 2 not specified 2015-08-24 -8.100000000000001 2.0 Likely benign 1 -252514 Simple 771128441 A . Uncertain significance 2 4 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-17 -1.17 1.0 Uncertain significance 0 -252538 Simple 111991705 T . Likely benign 2 2 not specified 2016-05-24 -5.7 1.5 Likely benign 0 -252548 Simple 145036794 G . Uncertain significance 2 2 not specified 2016-09-01 -0.5700000000000001 1.5 Uncertain significance 0 -252550 Simple 11573586 T . Benign/Likely benign 2 2 Gorlin syndrome;not specified 2017-07-28 -8.7 1.0 Benign/Likely benign 0 -252555 Simple 200407907 A . Uncertain significance 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -252562 Simple 9332747 T . Benign/Likely benign 2 2 not specified;not provided 2017-02-24 -8.4 1.5 Benign/Likely benign 0 -252564 Simple 201455193 T . Uncertain significance 2 3 Bifunctional peroxisomal enzyme deficiency;not specified;Perrault Syndrome 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -252575 Simple 142609245 C . Pathogenic/Likely pathogenic 2 3 Mitochondrial complex I deficiency;not provided 2017-07-13 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -252589 Simple 201396764 T . Uncertain significance 2 3 not specified;Inflammatory bowel disease 2017-09-27 -0.87 1.0 Uncertain significance 0 -252593 Simple 141423593 A . Benign/Likely benign 2 3 not specified 2016-10-11 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -252596 Simple 201040643 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy;not specified 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -252606 Simple 115483891 T . Likely benign 2 1 not specified 2015-10-20 . 2.0 . 0 -252613 Simple 145798898 A . Benign/Likely benign 2 2 not specified;Hypophosphatemic Nephrolithiasis/Osteoporosis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -252622 Simple 187331767 T . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2;not specified 2017-07-27 -8.7 1.0 Benign/Likely benign 0 -252637 Simple 201302313 A . Benign/Likely benign 2 2 Hypoplastic left heart syndrome 1;not specified 2016-12-15 -8.7 1.5 Benign/Likely benign 0 -252659 Simple 115047349 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -252662 Simple 139088785 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -252671 Simple 185229386 C . Uncertain significance 2 2 not specified;not provided 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -252672 Simple 142867197 T . Uncertain significance 2 4 not specified;not provided;Mental retardation, autosomal recessive 41 2017-06-07 -1.17 0.5 Uncertain significance 0 -252674 Simple 191364028 G . Benign/Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -252676 Simple 200579941 T . Benign/Likely benign 2 2 not specified 2017-05-04 -8.4 1.0 Benign/Likely benign 0 -252680 Simple 148612299 A . Likely benign 2 3 Agammaglobulinemia 4, autosomal recessive;not specified;not provided 2017-05-26 -8.7 0.6666666666666666 Benign/Likely benign 1 -252690 Simple 879255404 A . Pathogenic/Likely pathogenic 2 2 not provided 2017-08-10 8.7 1.0 Pathogenic/Likely pathogenic 0 -252695 Simple 200521548 G . Uncertain significance 2 2 not specified 2016-06-30 -0.5700000000000001 1.5 Uncertain significance 0 -252704 Simple 141420243 T . Benign/Likely benign 2 2 not specified;not provided 2016-06-23 -8.4 1.5 Benign/Likely benign 0 -252724 Simple 141750466 A . Benign/Likely benign 2 2 not specified;not provided 2016-09-15 -8.4 1.5 Benign/Likely benign 0 -252725 Simple 369529563 T . Uncertain significance 2 2 Rotor syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -252728 Simple 56152088 T . Benign/Likely benign 2 3 Neutral lipid storage disease with myopathy;not specified 2017-08-03 -14.4 1.0 Benign/Likely benign 0 -252732 Simple 190358169 T . Uncertain significance 2 2 not specified 2016-12-19 -0.5700000000000001 1.5 Uncertain significance 0 -252736 Simple 562019725 A . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -252737 Simple 146975768 A . Uncertain significance 2 3 Fanconi anemia;not specified 2016-10-03 -0.87 1.3333333333333333 Uncertain significance 0 -252740 Simple 111423173 T . Likely benign 2 2 not specified 2017-03-09 -5.7 1.0 Likely benign 0 -252772 Simple 139817477 T . Uncertain significance 2 3 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-15 -0.87 1.0 Uncertain significance 0 -252775 Simple 147187907 A . Uncertain significance 2 4 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-22 -1.17 1.0 Uncertain significance 0 -252776 Simple 147119099 T . Benign 2 2 not specified;Spastic paraplegia 75, autosomal recessive 2017-05-10 -11.4 1.0 Benign/Likely benign 1 -252777 Simple 201837257 A . Uncertain significance 2 2 Congenital defect of folate absorption;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -252784 Simple 142794811 TT . Benign 2 2 not specified 2017-01-13 -11.4 1.5 Benign/Likely benign 1 -252790 Simple 186391561 T . Benign/Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -252803 Simple 368363575 C . Uncertain significance 2 2 not specified 2015-09-18 -0.54 2.0 Uncertain significance 0 -252805 Simple 45590135 G . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-03-01 -14.100000000000001 1.5 Benign/Likely benign 0 -252807 Simple 138354681 C . Benign/Likely benign 2 4 Acrocallosal syndrome, Schinzel type;not specified;not provided 2017-06-23 -14.4 1.0 Benign/Likely benign 0 -252817 Simple 879255442 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -252823 Simple 80358523 G . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 0.75 Pathogenic 0 -252826 Simple 762752733 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-06 -0.6 0.5 Uncertain significance 0 -252833 Simple 879255453 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -252834 Simple 879255454 - . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 15.0 0.3333333333333333 Pathogenic 1 -252846 Simple 879255463 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -252853 Simple 879255468 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.87 1.0 Uncertain significance 0 -252854 Simple 879255469 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -252863 Simple 879255476 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -252870 Simple 879255481 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -252887 Simple 879255493 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.75 Benign/Likely benign 1 -252899 Simple 779022887 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-10-18 -0.6 1.0 Uncertain significance 0 -252904 Simple 144252500 A . Likely benign 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -9.0 0.0 Benign/Likely benign 1 -252905 Simple 35502109 A . Benign/Likely benign 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -12.0 0.0 Benign/Likely benign 0 -252906 Simple 377470390 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-10-12 -0.6 0.0 Uncertain significance 0 -252907 Simple 1042446 C . Likely benign 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -9.0 0.3333333333333333 Benign/Likely benign 1 -252908 Simple 372480044 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-12-05 -0.6 0.0 Uncertain significance 0 -252909 Simple 61733344 T . Benign/Likely benign 2 6 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-12-10 -26.4 0.8333333333333334 Benign 1 -252910 Simple 201967413 G . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-10-30 -6.0 0.0 Likely benign 0 -252911 Simple 138828792 G . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-03-27 -6.0 0.5 Likely benign 0 -252912 Simple 200526913 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.5 Uncertain significance 0 -252958 Simple 886037843 A . Likely pathogenic 2 2 not provided;Liver Failure, Acute 2016-08-02 6.0 1.0 Likely pathogenic 0 -252987 Simple 879255531 T . Pathogenic 2 2 Chromosome 9q deletion syndrome;not provided 2016-07-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -253032 Simple 377639990 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-05-22 -0.6 0.5 Uncertain significance 0 -253228 Simple 374969279 T . Uncertain significance 2 2 Multiple fibrofolliculomas 2017-04-25 -0.6 0.5 Uncertain significance 0 -253233 Simple 753948488 T . Uncertain significance 2 3 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-09-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -253239 Simple 879255667 A . Pathogenic 2 2 Multiple fibrofolliculomas 2016-11-28 12.0 1.0 Pathogenic/Likely pathogenic 1 -253240 Simple 879255668 C . Pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-04-04 22.8 1.25 Pathogenic 0 -253241 Simple 879255669 TT . Pathogenic 2 2 Multiple fibrofolliculomas;not provided 2016-08-11 12.0 1.0 Pathogenic/Likely pathogenic 1 -253246 Simple 879255674 G . Uncertain significance 2 2 Multiple fibrofolliculomas;not specified 2017-05-15 -0.6 0.5 Uncertain significance 0 -253247 Simple 879255675 TT . Pathogenic 2 3 Multiple fibrofolliculomas;not provided 2017-06-06 18.0 0.6666666666666666 Pathogenic 0 -253248 Simple 879255676 T . Pathogenic 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-02-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -253249 Simple 879255677 . . Pathogenic 2 3 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-07-12 17.4 1.0 Pathogenic 0 -253250 Simple 137852929 T . Pathogenic 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2016-07-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -253251 Simple 879255678 A . Pathogenic 2 5 Multiple fibrofolliculomas;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-04-04 29.4 1.0 Pathogenic 0 -253252 Simple 755959303 T . Pathogenic/Likely pathogenic 2 4 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-04-07 18.0 0.75 Pathogenic 1 -253256 Simple 879255681 - . Pathogenic/Likely pathogenic 2 2 Multiple fibrofolliculomas;not provided 2017-03-23 9.0 0.5 Pathogenic/Likely pathogenic 0 -253258 Simple 879255683 A . Pathogenic/Likely pathogenic 2 3 Multiple fibrofolliculomas;not provided 2017-04-27 14.4 1.0 Pathogenic/Likely pathogenic 0 -253272 Simple 146795505 C . Pathogenic 2 2 Meier-Gorlin syndrome 3;not provided 2016-08-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -253294 Simple 879255709 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 13;not provided;Epileptic encephalopathy 2016-11-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -253312 Simple 886041830 T . Pathogenic 2 2 Rubinstein-Taybi syndrome 2;not provided 2016-07-01 12.0 1.0 Pathogenic/Likely pathogenic 1 -254039 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-01-06 11.4 1.5 Pathogenic/Likely pathogenic 1 -254041 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-12-22 10.8 2.0 Pathogenic/Likely pathogenic 1 -254043 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-05-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -254047 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-01-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -254055 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-08-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -254068 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-02-05 10.8 2.0 Pathogenic/Likely pathogenic 1 -254074 Simple . . . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-12-13 8.4 1.5 Pathogenic/Likely pathogenic 0 -254075 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-12-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -254080 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-01-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -254153 Simple 886037900 - . Pathogenic/Likely pathogenic 2 2 Familial hypertrophic cardiomyopathy 4;not provided 2017-10-06 8.7 1.0 Pathogenic/Likely pathogenic 0 -254283 Simple 886037667 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 7.8 4.5 Likely pathogenic 2 -254284 Simple 886037668 G . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.6 3.0 Pathogenic/Likely pathogenic 1 -254287 Simple 886037671 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254288 Simple 886037672 A . Pathogenic 2 3 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 16.8 1.3333333333333333 Pathogenic 0 -254295 Simple 886037678 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -254296 Simple 886037679 CT . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -254297 Simple 754818927 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2016-08-03 10.8 2.0 Pathogenic/Likely pathogenic 1 -254298 Simple 886037680 - . Pathogenic 2 3 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-18 15.0 2.3333333333333335 Pathogenic 0 -254301 Simple 754081635 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -254303 Simple 886037684 A . Pathogenic 2 3 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-23 16.2 1.6666666666666667 Pathogenic 0 -254304 Simple 886037685 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -254306 Simple 886037687 TT . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -254308 Simple 886037689 T . Pathogenic 2 3 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-07-18 15.0 2.6666666666666665 Pathogenic 0 -254309 Simple 886037690 TT . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254310 Simple 886037691 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not provided 2016-12-13 10.8 2.0 Pathogenic/Likely pathogenic 1 -254311 Simple 886037692 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254313 Simple 886037694 TT . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-06-20 10.8 1.5 Pathogenic/Likely pathogenic 1 -254314 Simple 886037695 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254318 Simple 886037699 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254319 Simple 886037700 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254320 Simple 886037701 T . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254322 Simple 886037703 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254323 Simple 886037704 T . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2016-10-26 10.8 2.0 Pathogenic/Likely pathogenic 1 -254325 Simple 886037706 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2016-02-26 10.2 2.5 Pathogenic/Likely pathogenic 1 -254326 Simple 886037707 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 7.8 4.5 Likely pathogenic 2 -254328 Simple 886037708 T . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254331 Simple 886037711 T . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 7.8 4.5 Likely pathogenic 2 -254332 Simple 886037712 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254333 Simple 886037713 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 7.8 4.5 Likely pathogenic 2 -254336 Simple 886037716 T . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254337 Simple 886037717 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -254338 Simple 886037718 A . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -254340 Simple 886037720 TCTC . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254344 Simple 886037723 A . Pathogenic 2 3 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-01-12 15.0 2.6666666666666665 Pathogenic 0 -254348 Simple 886037727 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 9.0 3.5 Pathogenic/Likely pathogenic 1 -254355 Simple 886037733 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2014-11-10 8.4 4.0 Pathogenic/Likely pathogenic 1 -254366 Simple 886037967 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254367 Simple 80357803 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254368 Simple 80357633 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254369 Simple 80357550 TCTC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254370 Simple 273898673 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254371 Simple 886037971 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254372 Simple 886037972 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254373 Simple 80356888 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254374 Simple 886037973 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254375 Simple 886037974 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254376 Simple 483353104 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254377 Simple 886037976 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254378 Simple 886037977 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254379 Simple 886037978 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254380 Simple 886037979 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254381 Simple 80357792 CTCT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254382 Simple 886037980 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254383 Simple 886037981 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -254384 Simple 886037982 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254385 Simple 80357690 AC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254386 Simple 886037984 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254387 Simple 749508254 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254388 Simple 886037985 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254389 Simple 886037986 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254390 Simple 876659396 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254391 Simple 886037987 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254392 Simple 748714307 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254393 Simple 886037988 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254394 Simple 80357632 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254395 Simple 886037990 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254396 Simple 753524038 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254397 Simple 886037991 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -254398 Simple 80357736 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254399 Simple 752474843 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254400 Simple 767595162 ACAC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254401 Simple 886037993 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254402 Simple 773413634 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254403 Simple 886037994 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254404 Simple 886037995 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254405 Simple 876658306 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254406 Simple 80357233 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -254407 Simple 886037996 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254408 Simple 886037997 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254409 Simple 80357557 TATA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254410 Simple 886037998 . . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254411 Simple 886037999 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254412 Simple 770460699 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254413 Simple 886038000 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254414 Simple 886038001 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254415 Simple 80357603 TGACTGAC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254416 Simple 886038002 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254417 Simple 886038003 TGCC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254418 Simple 397508999 GT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254419 Simple 886038004 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254420 Simple 886038005 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254421 Simple 886038006 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254422 Simple 886038007 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 15.0 1.3333333333333333 Pathogenic 0 -254423 Simple 886038008 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254424 Simple 886038009 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254425 Simple 886038010 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254426 Simple 886038011 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254427 Simple 886038012 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254428 Simple 886038013 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254429 Simple 886038014 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254430 Simple 886038015 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254431 Simple 761143251 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254432 Simple 886038016 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254433 Simple 886038017 ATC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254434 Simple 886038018 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254435 Simple 80357562 AAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254436 Simple 886038019 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254437 Simple 886038020 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254438 Simple 886038021 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254439 Simple 886038022 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254440 Simple 774679104 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254441 Simple 777371832 TATA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254442 Simple 886038023 . . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254443 Simple 886038024 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254444 Simple 886038025 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1;not provided 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254445 Simple 397507222 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254446 Simple 886038027 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254447 Simple 886038028 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -254448 Simple 754792932 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254449 Simple 886038029 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254450 Simple 886038030 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254451 Simple 273900721 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254452 Simple 398122680 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -254453 Simple 886038032 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254454 Simple 886038033 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254455 Simple 886038034 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254456 Simple 886038035 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254457 Simple 886038036 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254458 Simple 886038037 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254459 Simple 80357833 TTTT . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -254460 Simple 886038038 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254461 Simple 431825410 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254462 Simple 886038040 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254463 Simple 886038041 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254464 Simple 886038042 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254465 Simple 886038043 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254466 Simple 80357732 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;not provided 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254467 Simple 886038045 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254468 Simple 760188581 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254469 Simple 774988515 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254470 Simple 886038046 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-09-08 . 1.0 . 0 -254471 Simple 768401297 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254472 Simple 886038047 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254473 Simple 886038048 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254474 Simple 397507318 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254475 Simple 886038050 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254476 Simple 587780653 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -254477 Simple 750385844 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254478 Simple 276174857 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254479 Simple 886038053 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -254480 Simple 886038054 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -254481 Simple 886038055 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254482 Simple 886038056 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254483 Simple 886038057 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254484 Simple 886038058 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254485 Simple 886038059 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254486 Simple 886038060 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -254487 Simple 886038061 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 18.6 0.6666666666666666 Pathogenic 0 -254488 Simple 886038062 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254489 Simple 886038063 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254490 Simple 886038064 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254491 Simple 886038065 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254492 Simple 80358421 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -254493 Simple 886038066 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254494 Simple 886038067 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254495 Simple 886038068 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254496 Simple 80359321 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254497 Simple 886038070 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254498 Simple 886038071 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254499 Simple 886038072 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254500 Simple 774808238 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254501 Simple 397507284 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254502 Simple 886038074 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254503 Simple 886038075 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254504 Simple 886038076 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254505 Simple 886038077 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254506 Simple 777421358 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254507 Simple 886038078 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254508 Simple 886038079 TGTG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254509 Simple 886038080 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -254510 Simple 886038081 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -254511 Simple 886038082 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254512 Simple 886038083 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254513 Simple 748508287 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254514 Simple 886038084 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254515 Simple 690016541 - . Pathogenic 3 1 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254516 Simple 80359383 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -254517 Simple 80359385 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254518 Simple 797044986 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254519 Simple 886038089 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254520 Simple 80359394 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254521 Simple 886038091 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254522 Simple 886038092 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254523 Simple 886038093 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254524 Simple 886038094 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254525 Simple 886038095 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254526 Simple 886038096 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254527 Simple 431825313 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254528 Simple 886038098 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254529 Simple 80359417 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254530 Simple 886038100 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254531 Simple 886038101 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254532 Simple 750704702 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254533 Simple 886038102 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254534 Simple 886038103 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254535 Simple 886038104 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254536 Simple 886038105 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254537 Simple 886038106 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254538 Simple 886038107 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -254539 Simple 886038108 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not specified 2016-09-08 12.6 1.0 Pathogenic/Likely pathogenic 1 -254540 Simple 886038109 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254541 Simple 769017108 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254542 Simple 886038110 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254543 Simple 886038111 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254544 Simple 886038112 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254545 Simple 886038113 GA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254546 Simple 886038114 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -254547 Simple 886038115 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254548 Simple 886038116 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254549 Simple 80359479 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254550 Simple 886038118 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254551 Simple 80359486 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254552 Simple 886038120 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254553 Simple 886038121 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254554 Simple 786202543 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254555 Simple 749980674 TA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-08 24.0 1.0 Pathogenic 0 -254556 Simple 886038122 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254557 Simple 886038123 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254558 Simple 886038124 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254559 Simple 886038125 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254560 Simple 886038126 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;not provided 2016-09-08 12.6 0.5 Pathogenic/Likely pathogenic 1 -254561 Simple 786204172 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 11.399999999999999 2.0 Pathogenic/Likely pathogenic 1 -254562 Simple 276174861 CCCC . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254563 Simple 276174862 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-09-08 18.0 1.3333333333333333 Pathogenic 0 -254564 Simple 886038130 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254565 Simple 886038131 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254566 Simple 276174864 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254567 Simple 886038133 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254568 Simple 886038134 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254569 Simple 886038135 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-09-08 17.4 1.6666666666666667 Pathogenic 0 -254570 Simple 768242833 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -254571 Simple 886038136 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254572 Simple 886038137 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254573 Simple 886038138 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254574 Simple 886038139 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254575 Simple 886038140 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254576 Simple 886038141 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254577 Simple 80359569 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254578 Simple 886038143 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254579 Simple 886038144 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254580 Simple 886038145 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254581 Simple 886038146 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254582 Simple 80359587 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254583 Simple 886038148 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254584 Simple 886038149 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254585 Simple 886038150 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254586 Simple 886038151 C . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 . 1.0 . 0 -254587 Simple 606231404 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254588 Simple 886038153 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254589 Simple 886038154 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254590 Simple 886038155 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254591 Simple 886038156 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254592 Simple 398122571 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254593 Simple 886038158 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254594 Simple 886038159 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254595 Simple 200078639 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 18.0 1.0 Pathogenic 0 -254596 Simple 886038160 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254597 Simple 80359638 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254598 Simple 886038162 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254599 Simple 886038163 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254600 Simple 886038164 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254601 Simple 886038165 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254602 Simple 886038166 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254603 Simple 886038167 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254604 Simple 886038168 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254605 Simple 886038169 TA . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1 2016-09-08 . 1.0 . 0 -254606 Simple 886038170 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 14.7 1.6666666666666667 Pathogenic/Likely pathogenic 1 -254607 Simple 886038171 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254608 Simple 886038172 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254609 Simple 886038173 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254610 Simple 886038174 AGAG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254611 Simple 766251541 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254612 Simple 886038175 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254613 Simple 886038176 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254614 Simple 886038177 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254615 Simple 886038178 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254616 Simple 80359030 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254617 Simple 886038179 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254618 Simple 886038180 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254619 Simple 80359690 . . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254620 Simple 761595544 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254621 Simple 80359082 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254622 Simple 886038182 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254623 Simple 776353983 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-09-08 15.0 1.3333333333333333 Pathogenic 0 -254624 Simple 886038183 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254625 Simple 886038184 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254626 Simple 276174910 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254627 Simple 886038186 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254628 Simple 886038187 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254629 Simple 886038188 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254630 Simple 886038189 GG . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-09-08 29.4 1.2 Pathogenic 0 -254631 Simple 886038190 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-09-08 12.0 1.5 Pathogenic/Likely pathogenic 1 -254632 Simple 886038191 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254633 Simple 886038192 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254634 Simple 80359762 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254635 Simple 886038194 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254636 Simple 886038195 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254637 Simple 758051959 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-09-08 . 1.0 . 0 -254640 Simple 769213707 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -254642 Simple 886038197 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -254645 Simple 767209209 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-04-05 -0.6 0.5 Uncertain significance 0 -254648 Simple 886037952 G . Pathogenic 2 2 not provided;Noonan syndrome-like disorder with loose anagen hair 2 2017-08-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -254654 Simple 886037859 G . Likely pathogenic 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-08-24 4.8 3.0 Likely pathogenic 0 -254668 Simple 764717219 - . Pathogenic 2 3 Amyotrophic lateral sclerosis type 11;Charcot-Marie-Tooth disease, type IV;not provided 2017-02-17 18.0 1.0 Pathogenic 0 -254692 Simple 3916 C . Benign 2 1 Deficiency of butyryl-CoA dehydrogenase;not specified 2016-06-14 . 1.0 . 0 -254697 Simple 184559206 G . Benign/Likely benign 2 1 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2017-07-13 . 0.0 . 0 -254700 Simple 140566084 G . Benign 2 1 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2017-07-13 . 0.0 . 0 -254704 Simple 143233413 C . Likely benign 2 1 not specified 2017-02-03 . 1.0 . 0 -254706 Simple 61734313 G . Benign/Likely benign 2 2 Hereditary hemorrhagic telangiectasia type 2;Osler hemorrhagic telangiectasia syndrome;not specified 2017-03-27 -9.0 0.5 Benign/Likely benign 0 -254707 Simple 185343653 T . Benign 2 1 Hereditary hemorrhagic telangiectasia type 2;not specified 2017-03-27 . 0.0 . 0 -254708 Simple 115378744 T . Benign/Likely benign 2 2 Hereditary hemorrhagic telangiectasia type 2;Osler hemorrhagic telangiectasia syndrome;not specified 2017-03-27 -9.0 0.5 Benign/Likely benign 0 -254709 Simple 706815 C . Benign/Likely benign 2 1 not specified 2016-08-15 . 1.0 . 0 -254710 Simple 2071219 G . Benign 2 1 not specified 2016-07-13 . 1.0 . 0 -254716 Simple 244076 C . Benign 2 3 Severe combined immunodeficiency due to ADA deficiency;not specified 2017-04-11 -18.0 0.6666666666666666 Benign/Likely benign 1 -254725 Simple 7080 C . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -254727 Simple 147106773 A . Benign/Likely benign 2 1 not specified;Primary hyperoxaluria 2016-06-14 . 1.0 . 0 -254729 Simple 182858853 A . Likely benign 2 1 not specified 2017-10-10 . 0.0 . 0 -254730 Simple 12337537 T . Benign 2 2 not specified 2016-01-27 -10.8 2.0 Benign/Likely benign 1 -254731 Simple 149671008 C . Benign/Likely benign 2 1 not specified 2016-11-25 . 1.0 . 0 -254733 Simple 145211300 G . Benign/Likely benign 2 1 not specified 2016-08-15 . 1.0 . 0 -254734 Simple 2234978 C . Benign 2 2 Autoimmune lymphoproliferative syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -254742 Simple 117035302 T . Benign/Likely benign 2 1 Argininosuccinate lyase deficiency;not specified 2016-06-14 . 1.0 . 0 -254744 Simple 191432165 G . Benign/Likely benign 2 1 not specified 2016-10-12 . 1.0 . 0 -254745 Simple 116103138 C . Benign/Likely benign 2 3 Citrullinemia type I;not specified 2017-03-16 -15.0 0.6666666666666666 Benign/Likely benign 0 -254747 Simple 77343702 T . Benign/Likely benign 2 2 Citrullinemia type I;not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -254750 Simple 147842617 T . Likely benign 2 1 not specified 2016-08-09 . 1.0 . 0 -254757 Simple 113968994 A . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -254760 Simple 145798966 A . Benign/Likely benign 2 3 Wilson disease;not specified 2017-08-01 -15.0 0.3333333333333333 Benign/Likely benign 0 -254764 Simple 9526811 T . Benign 2 1 not specified 2016-10-10 . 1.0 . 0 -254767 Simple 59120265 C . Benign 2 2 Wilson disease;not specified 2017-08-08 -12.0 0.5 Benign/Likely benign 1 -254770 Simple 9535795 G . Benign 2 1 not specified 2016-10-10 . 1.0 . 0 -254771 Simple 61748993 A . Benign/Likely benign 2 1 Nephrogenic diabetes insipidus;not specified 2016-06-14 . 1.0 . 0 -254772 Simple 56689668 G . Benign 2 3 Nephrogenic diabetes insipidus, X-linked;Nephrogenic syndrome of inappropriate antidiuresis;Nephrogenic diabetes insipidus;not specified 2017-06-19 -17.4 1.0 Benign/Likely benign 1 -254773 Simple 2071126 A . Benign 2 1 Nephrogenic diabetes insipidus;not specified 2016-06-14 . 1.0 . 0 -254774 Simple 5200 T . Benign 2 1 Nephrogenic diabetes insipidus;not specified 2016-06-14 . 1.0 . 0 -254775 Simple 5201 G . Benign 2 2 Nephrogenic diabetes insipidus;not specified 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -254776 Simple 5202 T . Benign 2 1 Nephrogenic diabetes insipidus;not specified 2016-06-14 . 1.0 . 0 -254781 Simple 34580216 A . Likely benign 2 2 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -6.0 0.5 Likely benign 0 -254782 Simple 886038221 A . Likely benign 3 1 Breast-ovarian cancer, familial 2;not specified 2017-06-29 . 0.0 . 0 -254783 Simple 758007548 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -6.3 0.5 Likely benign 0 -254784 Simple 1135363 A . Benign 2 5 X-linked agammaglobulinemia;not specified;Isolated Growth Hormone Deficiency 2016-06-14 -28.8 1.4 Benign 0 -254786 Simple 4926 A . Benign 2 2 not specified;Hereditary Angioedema 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -254787 Simple 703 C . Benign 2 1 Osteopetrosis with renal tubular acidosis;not specified 2016-06-14 . 1.0 . 0 -254788 Simple 12742170 C . Benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-06-20 -23.4 1.0 Benign/Likely benign 1 -254789 Simple 12742169 T . Benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-06-20 -23.4 1.0 Benign/Likely benign 1 -254790 Simple 144920422 C . Likely benign 2 1 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified 2017-07-27 . 0.0 . 0 -254791 Simple 374866886 T . Likely benign 2 1 not specified 2016-06-28 . 1.0 . 0 -254792 Simple 3767512 A . Benign 2 5 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-15 -29.4 0.8 Benign 0 -254793 Simple 144206959 A . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-05-04 -15.0 0.75 Benign/Likely benign 0 -254794 Simple 528563981 T . Likely benign 2 2 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -254795 Simple 16847674 A . Benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-06-20 -23.4 1.0 Benign/Likely benign 1 -254797 Simple 9427714 G . Benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-06-20 -23.4 1.0 Benign/Likely benign 1 -254798 Simple 113558244 G . Benign 2 1 not specified 2016-03-24 . 1.0 . 0 -254799 Simple 16847669 T . Benign/Likely benign 2 5 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-27 -24.0 0.6 Benign 1 -254800 Simple 4915477 G . Benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-06-20 -18.0 0.6666666666666666 Benign/Likely benign 1 -254801 Simple 4915476 A . Benign 2 4 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-21 -23.4 1.0 Benign/Likely benign 1 -254802 Simple 114191482 T . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified;not provided 2017-07-21 -15.0 0.75 Benign/Likely benign 0 -254803 Simple 142356235 T . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-31 -18.0 0.75 Benign/Likely benign 0 -254804 Simple 1998721 G . Benign 2 4 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-21 -23.4 1.0 Benign/Likely benign 1 -254805 Simple 201173419 C . Benign/Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-27 -12.0 0.6666666666666666 Benign/Likely benign 0 -254807 Simple 113175669 T . Likely benign 2 1 not specified 2017-05-15 . 0.0 . 0 -254809 Simple 16847664 A . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-04 -18.0 0.75 Benign/Likely benign 0 -254810 Simple 79984703 A . Benign/Likely benign 2 5 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-14 -23.4 0.8 Benign/Likely benign 0 -254811 Simple 12406479 C . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-15 -17.4 1.0 Benign/Likely benign 0 -254813 Simple 2182117 A . Benign/Likely benign 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-20 -9.0 0.6666666666666666 Benign/Likely benign 0 -254814 Simple 7415038 G . Benign 2 4 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-21 -23.4 1.0 Benign/Likely benign 1 -254815 Simple 141619541 T . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-17 -15.0 0.5 Benign/Likely benign 0 -254816 Simple 61238538 G . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-09 -18.0 0.75 Benign/Likely benign 0 -254817 Simple 112868209 A . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-06-27 -18.0 0.75 Benign/Likely benign 0 -254819 Simple 16847623 A . Benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-17 -24.0 0.75 Benign 0 -254820 Simple 74138824 A . Benign/Likely benign 2 2 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -254821 Simple 113792034 A . Benign/Likely benign 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -254822 Simple 2297902 A . Benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Hypokalemic periodic paralysis;not specified 2017-08-18 -18.0 0.6666666666666666 Benign/Likely benign 1 -254824 Simple 41267501 G . Benign/Likely benign 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -254825 Simple 34515088 C . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-08 -17.4 1.0 Benign/Likely benign 0 -254826 Simple 56021911 A . Benign 2 1 not specified 2016-03-03 . 2.0 . 0 -254827 Simple 191758096 T . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-19 -17.4 1.0 Benign/Likely benign 0 -254828 Simple 369565379 A . Likely benign 2 2 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -254829 Simple 142184434 T . Benign/Likely benign 2 5 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-11 -24.0 0.6 Benign 1 -254830 Simple 138144724 T . Benign/Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -254831 Simple 56183942 A . Benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-18 -24.0 0.75 Benign 0 -254832 Simple 139491817 C . Benign/Likely benign 2 2 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -254833 Simple 377030324 T . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-28 -15.0 0.75 Benign/Likely benign 0 -254834 Simple 115707724 A . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-17 -18.0 0.75 Benign/Likely benign 0 -254835 Simple 141071505 T . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-06-06 -15.0 0.5 Benign/Likely benign 0 -254836 Simple 116534514 A . Benign/Likely benign 2 2 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -254838 Simple 2297905 T . Benign 2 4 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-21 -23.4 1.0 Benign/Likely benign 1 -254839 Simple 140742077 G . Benign/Likely benign 2 1 not specified 2017-05-15 . 0.0 . 0 -254840 Simple 138423302 G . Benign/Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-03-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -254841 Simple 41267497 A . Benign 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -254842 Simple 13374149 T . Benign 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -254844 Simple 114243233 A . Benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified 2017-05-26 -18.0 0.3333333333333333 Benign/Likely benign 1 -254847 Simple 12139527 G . Benign 2 4 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-21 -23.4 1.0 Benign/Likely benign 1 -254848 Simple 375541532 A . Likely benign 2 2 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -254849 Simple 554596425 - . Benign/Likely benign 2 2 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 0 -254850 Simple 72749169 T . Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified;Malignant hyperthermia 2017-08-15 -12.0 0.5 Benign/Likely benign 1 -254852 Simple 2296383 A . Benign 2 4 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-21 -23.4 1.0 Benign/Likely benign 1 -254853 Simple 35534614 T . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-18 -17.4 1.0 Benign/Likely benign 0 -254854 Simple 61734621 A . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-08 -18.0 0.75 Benign/Likely benign 0 -254855 Simple 35856559 G . Benign/Likely benign 2 5 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified;not provided 2017-08-29 -21.0 0.6 Benign/Likely benign 0 -254866 Simple 540561728 G . Likely benign 2 1 not specified 2016-09-27 . 1.0 . 0 -254870 Simple 146529432 A . Likely benign 2 2 Limb-girdle muscular dystrophy, type 2A;not specified 2015-11-23 -5.4 2.0 Likely benign 0 -254876 Simple 61735534 T . Benign 2 2 Limb-girdle muscular dystrophy, type 2A;not specified 2017-06-27 -12.0 0.5 Benign/Likely benign 1 -254881 Simple 112196492 G . Likely benign 2 1 Beckwith-Wiedemann syndrome;not specified 2017-06-07 . 0.0 . 0 -254884 Simple 2229199 T . Likely benign 2 1 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 . 1.0 . 0 -254885 Simple 2229200 G . Likely benign 2 1 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 . 1.0 . 0 -254888 Simple 77481135 T . Benign/Likely benign 2 1 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 . 1.0 . 0 -254890 Simple 148340961 - . Benign 2 1 not specified 2015-11-16 . 2.0 . 0 -254903 Simple 12942540 C . Benign/Likely benign 2 2 not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -254904 Simple 56377005 A . Benign/Likely benign 2 2 Myasthenic syndrome, congenital, 4a, slow-channel;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-06-19 -9.0 0.5 Benign/Likely benign 0 -254910 Simple 1063128 C . Benign 2 2 Chédiak-Higashi syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -254911 Simple 11464 G . Benign 2 2 Chédiak-Higashi syndrome;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -254912 Simple 3820553 C . Benign 2 2 Chédiak-Higashi syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -254913 Simple 77091385 G . Likely benign 2 1 Chédiak-Higashi syndrome;not specified 2017-08-11 . 0.0 . 0 -254914 Simple 16832868 A . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -254915 Simple 3768066 G . Benign/Likely benign 2 1 Chédiak-Higashi syndrome;not specified 2016-06-14 . 1.0 . 0 -254916 Simple 10465613 T . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -254920 Simple 74641549 G . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -254921 Simple 11583387 A . Benign/Likely benign 2 1 Chédiak-Higashi syndrome;not specified 2016-06-14 . 1.0 . 0 -254923 Simple 6696123 C . Benign 2 2 Chédiak-Higashi syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -254927 Simple 2273584 T . Benign 2 2 Chédiak-Higashi syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -254928 Simple 7524261 C . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -254929 Simple 6665568 G . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -254932 Simple 34466404 C . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -254936 Simple 10926586 T . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -254938 Simple 61738992 G . Benign/Likely benign 2 3 Chédiak-Higashi syndrome;not specified 2017-08-02 -15.0 0.6666666666666666 Benign/Likely benign 0 -254940 Simple 34160788 G . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -254941 Simple 35333195 T . Benign/Likely benign 2 2 Chédiak-Higashi syndrome;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -254944 Simple 4647039 A . Benign 2 1 not specified 2015-10-15 . 2.0 . 0 -254945 Simple 1057297 A . Benign/Likely benign 2 5 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2017-08-22 -21.0 0.8 Benign/Likely benign 0 -254946 Simple 2696247 G . Benign/Likely benign 2 5 Infantile cortical hyperostosis;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2016-06-14 -19.8 1.4 Benign/Likely benign 0 -254947 Simple 2734272 G . Benign/Likely benign 2 4 Infantile cortical hyperostosis;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -254948 Simple 2075559 C . Benign 2 3 not specified 2017-07-26 -17.4 1.0 Benign/Likely benign 1 -254949 Simple 2256835 C . Benign 2 2 not specified 2017-07-28 -11.4 1.0 Benign/Likely benign 1 -254950 Simple 16948767 G . Benign 2 1 not specified 2016-04-15 . 1.0 . 0 -254951 Simple 17639446 C . Benign/Likely benign 2 5 Infantile cortical hyperostosis;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2017-07-26 -20.4 1.0 Benign/Likely benign 0 -254952 Simple 412777 C . Benign 2 4 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2017-07-26 -23.4 1.0 Benign/Likely benign 1 -254953 Simple 42524 G . Benign 2 5 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2017-07-26 -29.4 1.0 Benign 0 -254954 Simple 421587 G . Benign 2 3 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -254955 Simple 1800222 C . Benign 2 5 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2017-07-28 -28.8 1.2 Benign 0 -254956 Simple 1800248 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -254957 Simple 42518 T . Benign 2 4 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2017-07-26 -23.4 1.0 Benign/Likely benign 1 -254958 Simple 42519 T . Benign 2 5 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2016-06-14 -26.400000000000002 2.2 Benign 0 -254973 Simple 775390389 G . Likely benign 2 1 not specified 2016-08-08 . 1.0 . 0 -254976 Simple 10205042 T . Benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 1 -254977 Simple 34505188 A . Benign/Likely benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -254978 Simple 13424243 C . Benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 1 -254979 Simple 11677877 G . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -254981 Simple 1882435 A . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -254982 Simple 34019152 A . Benign/Likely benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-05-24 -9.0 0.5 Benign/Likely benign 0 -254984 Simple 56243460 G . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -254985 Simple 28381984 T . Benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 1 -254987 Simple 56226424 G . Benign 2 1 not specified 2017-07-20 . 0.0 . 0 -254988 Simple 75519005 T . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -254995 Simple 57611801 A . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -254996 Simple 10178458 C . Benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 1 -255000 Simple 113401495 T . Benign 2 1 not specified 2016-10-18 . 1.0 . 0 -255001 Simple 6436669 G . Benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 1 -255003 Simple 55667591 C . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255005 Simple 77431913 A . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255006 Simple 80109666 A . Benign/Likely benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -255008 Simple 148393022 T . Benign/Likely benign 2 2 Alport syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255010 Simple 55703767 T . Benign/Likely benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -255011 Simple 2228558 A . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255013 Simple 35830639 G . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255014 Simple 2229814 A . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255015 Simple 1800516 G . Benign/Likely benign 2 2 Alport syndrome;not specified 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -255016 Simple 16823264 G . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255018 Simple 34236495 T . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255019 Simple 36121515 A . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255020 Simple 3769641 G . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255021 Simple 34835657 A . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255025 Simple 80243096 C . Benign/Likely benign 2 2 Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -255028 Simple 1800517 A . Benign 2 2 Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 1 -255030 Simple 2229815 C . Benign/Likely benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255031 Simple 10203363 T . Benign 2 2 Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 1 -255032 Simple 2229812 T . Benign 2 2 Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-04-28 -12.0 0.5 Benign/Likely benign 1 -255033 Simple 13423714 G . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255035 Simple 16823077 C . Benign/Likely benign 2 2 Alport syndrome, autosomal recessive;Alport syndrome;not specified 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -255036 Simple 2228556 T . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255038 Simple 3752895 G . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255040 Simple 13419076 G . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255041 Simple 2228555 C . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255043 Simple 2228557 A . Benign 2 1 Alport syndrome;not specified 2016-06-14 . 1.0 . 0 -255049 Simple 3109675 C . Benign 2 1 not specified 2015-12-09 . 2.0 . 0 -255051 Simple 150940930 T . Benign/Likely benign 2 1 not specified 2016-01-18 . 2.0 . 0 -255065 Simple 747677530 C . Benign/Likely benign 2 1 not specified 2017-10-25 . 0.0 . 0 -255071 Simple 368737278 A . Likely benign 2 1 not specified 2017-01-26 . 1.0 . 0 -255073 Simple 201897490 T . Likely benign 2 1 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-28 . 0.0 . 0 -255074 Simple 140528268 T . Likely benign 2 1 not specified 2016-01-11 . 2.0 . 0 -255094 Simple 201871481 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-20 -8.4 1.0 Benign/Likely benign 0 -255103 Simple 2228561 A . Benign 2 1 Dystrophic epidermolysis bullosa;not specified 2016-06-14 . 1.0 . 0 -255107 Simple 1264194 C . Benign 2 1 Dystrophic epidermolysis bullosa;not specified 2016-06-14 . 1.0 . 0 -255108 Simple 2255532 T . Benign 2 1 Dystrophic epidermolysis bullosa;not specified 2016-06-14 . 1.0 . 0 -255109 Simple 35761247 A . Benign/Likely benign 2 1 Dystrophic epidermolysis bullosa;not specified 2016-06-14 . 1.0 . 0 -255117 Simple 77185131 G . Benign/Likely benign 2 2 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -255119 Simple 34467947 T . Benign/Likely benign 2 2 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -255122 Simple 150008764 A . Benign/Likely benign 2 3 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -255124 Simple 61752496 C . Benign/Likely benign 2 3 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -255125 Simple 199733531 T . Likely benign 2 2 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -255126 Simple 2228472 G . Benign 2 1 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative;not specified 2017-08-04 . 0.0 . 0 -255127 Simple 12123 G . Benign 2 2 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative;not specified 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -255133 Simple 61732052 G . Benign/Likely benign 2 5 Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;Achondrogenesis;Osteochondrodysplasia;not specified;Atelosteogenesis 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255134 Simple 2296793 A . Benign/Likely benign 2 1 Dystonia 1;not specified 2016-06-14 . 1.0 . 0 -255137 Simple 72755217 T . Benign/Likely benign 2 1 Dystonia 1;not specified 2016-06-14 . 1.0 . 0 -255140 Simple 139317762 C . Likely benign 2 2 Waardenburg syndrome;not specified;Hirschsprung Disease, Recessive 2016-06-14 -6.0 1.0 Likely benign 0 -255141 Simple 5350 A . Benign/Likely benign 2 2 Waardenburg syndrome;not specified;Hirschsprung Disease, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -255142 Simple 115450389 A . Benign/Likely benign 2 4 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2017-07-28 -18.0 0.75 Benign/Likely benign 0 -255144 Simple 7847860 A . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -255145 Simple 41355248 A . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -255152 Simple 77809780 A . Benign/Likely benign 2 1 not specified;Spherocytosis, Recessive 2016-06-14 . 1.0 . 0 -255153 Simple 1042168 T . Benign/Likely benign 2 1 not specified;Spherocytosis, Recessive 2016-06-14 . 1.0 . 0 -255157 Simple 61343376 C . Benign/Likely benign 2 2 not specified;Spherocytosis, Recessive 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -255159 Simple 4150316 T . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -255160 Simple 2020915 A . Benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -255161 Simple 4150360 T . Benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -255165 Simple 2228525 A . Benign 2 3 Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -255167 Simple 34917815 C . Benign/Likely benign 2 1 not specified 2015-07-28 . 2.0 . 0 -255169 Simple 17506447 C . Benign/Likely benign 2 2 Multiple congenital exostosis;not specified;Hereditary Multiple Osteochondromatosis 2017-03-21 -9.0 0.5 Benign/Likely benign 0 -255170 Simple 78429222 C . Benign 2 1 not specified 2016-10-03 . 1.0 . 0 -255172 Simple 17439693 A . Benign 2 1 not specified;Hereditary Multiple Osteochondromatosis 2016-06-14 . 1.0 . 0 -255173 Simple 200128437 T . Benign/Likely benign 2 1 not specified;Hereditary Multiple Osteochondromatosis 2016-06-14 . 1.0 . 0 -255175 Simple 7837891 T . Benign 2 1 not specified;Hereditary Multiple Osteochondromatosis 2016-06-14 . 1.0 . 0 -255176 Simple 5970 C . Benign 2 1 Hereditary factor XI deficiency disease;not specified 2016-06-14 . 1.0 . 0 -255178 Simple 5971 T . Benign/Likely benign 2 1 Hereditary factor XI deficiency disease;not specified 2016-06-14 . 1.0 . 0 -255179 Simple 5976 A . Benign/Likely benign 2 1 Hereditary factor XI deficiency disease;not specified 2016-06-14 . 1.0 . 0 -255180 Simple 5973 T . Benign/Likely benign 2 1 Hereditary factor XI deficiency disease;not specified 2016-06-14 . 1.0 . 0 -255181 Simple 5974 G . Benign 2 1 Hereditary factor XI deficiency disease;not specified 2016-06-14 . 1.0 . 0 -255183 Simple 5982 A . Benign/Likely benign 2 1 Factor xiii, a subunit, deficiency of;not specified 2016-06-14 . 1.0 . 0 -255184 Simple 5986 C . Benign/Likely benign 2 1 Factor xiii, a subunit, deficiency of;not specified 2016-06-14 . 1.0 . 0 -255185 Simple 5987 T . Benign/Likely benign 2 1 Factor xiii, a subunit, deficiency of;not specified 2016-06-14 . 1.0 . 0 -255186 Simple 5988 G . Benign/Likely benign 2 1 Factor xiii, a subunit, deficiency of;not specified 2016-06-14 . 1.0 . 0 -255187 Simple 5981 G . Benign/Likely benign 2 1 Factor xiii, a subunit, deficiency of;not specified 2016-06-14 . 1.0 . 0 -255188 Simple 6033 G . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255189 Simple 6035 C . Benign/Likely benign 2 1 Thrombophilia due to activated protein C resistance;not specified 2016-06-14 . 1.0 . 0 -255190 Simple 6015 A . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255191 Simple 6036 T . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255192 Simple 6037 T . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255193 Simple 6016 A . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255194 Simple 6017 G . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255195 Simple 6024 C . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255196 Simple 6021 C . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255197 Simple 6028 C . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255198 Simple 6031 A . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255199 Simple 6018 G . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255200 Simple 4524 C . Benign/Likely benign 2 1 Thrombophilia due to activated protein C resistance;not specified 2016-06-14 . 1.0 . 0 -255201 Simple 4525 C . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255202 Simple 6032 C . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255203 Simple 6019 G . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255204 Simple 1800594 G . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255205 Simple 1046712 T . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255206 Simple 9287090 A . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255207 Simple 6029 T . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255208 Simple 9332607 A . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255210 Simple 6030 C . Benign/Likely benign 2 1 Thrombophilia due to activated protein C resistance;not specified 2016-06-14 . 1.0 . 0 -255211 Simple 6009 C . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255212 Simple 6022 A . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255214 Simple 9332701 G . Benign/Likely benign 2 6 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 0 -255215 Simple 6027 C . Benign/Likely benign 2 1 Thrombophilia due to activated protein C resistance;not specified 2016-06-14 . 1.0 . 0 -255216 Simple 6023 A . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255217 Simple 9332578 A . Benign/Likely benign 2 5 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -255218 Simple 6042 T . Benign 2 1 Factor VII deficiency;not specified 2016-06-14 . 1.0 . 0 -255219 Simple 6039 A . Benign 2 1 Factor VII deficiency;not specified 2016-06-14 . 1.0 . 0 -255220 Simple 3093266 C . Likely benign 2 1 not specified 2016-04-01 . 1.0 . 0 -255223 Simple 33921347 T . Benign/Likely benign 2 1 not specified;Hemophilia A, FVIII Deficiency 2016-06-14 . 1.0 . 0 -255231 Simple 1800331 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -255233 Simple 1800332 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -255241 Simple 1800337 G . Benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -255243 Simple 17232917 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -255245 Simple 1800340 G . Benign 2 2 Fanconi anemia;not specified 2016-09-13 -12.0 1.0 Benign/Likely benign 1 -255246 Simple 147882314 T . Likely benign 2 2 Fanconi anemia;not specified 2017-04-19 -6.0 0.5 Likely benign 0 -255250 Simple 17233253 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -255251 Simple 17226980 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -255253 Simple 17227064 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -255255 Simple 1800347 C . Benign/Likely benign 2 2 not specified;not provided 2017-10-03 -9.0 0.5 Benign/Likely benign 0 -255260 Simple 55773634 T . Benign/Likely benign 2 1 Fanconi anemia;not specified 2017-06-16 . 0.0 . 0 -255261 Simple 1800358 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -255263 Simple 11649210 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -255269 Simple 1800286 C . Benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -255270 Simple 11648881 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -255272 Simple 7029888 T . Benign/Likely benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -255274 Simple 548998258 A . Likely benign 2 2 Fanconi anemia;not specified 2016-11-11 -6.0 1.0 Likely benign 0 -255275 Simple 1800360 C . Benign/Likely benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -15.0 0.6666666666666666 Benign/Likely benign 0 -255278 Simple 60585303 G . Benign/Likely benign 2 3 Tyrosinemia type I;not specified;Hypertyrosinemia 2016-10-03 -14.4 1.3333333333333333 Benign/Likely benign 0 -255294 Simple 72158035 - . Benign/Likely benign 2 1 Thoracic aortic aneurysm and aortic dissection;not specified 2013-06-14 . 4.0 . 0 -255296 Simple 886038250 A . Likely benign 2 1 not specified 2016-05-16 . 1.0 . 0 -255300 Simple 368979510 A . Benign/Likely benign 2 1 not specified 2015-09-09 . 2.0 . 0 -255308 Simple 363823 A . Benign 2 1 not specified 2017-01-12 . 1.0 . 0 -255311 Simple 536765 C . Benign 2 1 Erythropoietic protoporphyria;not specified 2016-06-14 . 1.0 . 0 -255312 Simple 536560 C . Benign 2 1 Erythropoietic protoporphyria;not specified 2016-06-14 . 1.0 . 0 -255314 Simple 3135722 C . Benign/Likely benign 2 10 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;Craniosynostosis;FGFR2 related craniosynostosis 2017-05-04 -33.0 0.9 Benign 1 -255315 Simple 3135802 C . Benign 2 1 not specified 2016-04-14 . 1.0 . 0 -255316 Simple 35337478 A . Benign 2 11 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;Craniosynostosis;FGFR2 related craniosynostosis 2017-08-03 -66.0 0.9090909090909091 Benign 0 -255317 Simple 2278202 A . Benign 2 10 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;Craniosynostosis 2016-06-14 -59.4 1.1 Benign 0 -255319 Simple 1047100 C . Benign 2 10 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;Craniosynostosis 2016-06-14 -59.4 1.1 Benign 0 -255321 Simple 4647928 T . Benign 2 1 not specified 2015-07-13 . 2.0 . 0 -255323 Simple 3135885 T . Benign 2 3 not specified;Craniosynostosis 2017-06-14 -18.0 0.6666666666666666 Benign/Likely benign 1 -255324 Simple 114754024 T . Benign 2 1 not specified 2016-12-29 . 1.0 . 0 -255333 Simple 111460786 T . Benign 2 1 not specified;Craniosynostosis 2017-06-07 . 0.0 . 0 -255334 Simple 3135897 T . Benign 2 2 not specified;Craniosynostosis 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -255336 Simple 371666188 T . Benign/Likely benign 2 1 not specified;Craniosynostosis 2017-06-23 . 0.0 . 0 -255338 Simple 145020302 G . Benign 2 1 not specified 2016-11-21 . 1.0 . 0 -255340 Simple 3135867 T . Benign 2 2 not specified;Craniosynostosis 2017-08-16 -11.4 1.0 Benign/Likely benign 1 -255341 Simple 3135868 G . Benign 2 2 not specified;Craniosynostosis 2017-07-20 -12.0 0.5 Benign/Likely benign 1 -255346 Simple 2234909 C . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -255348 Simple 115030945 A . Likely benign 2 2 Ovarian hyperstimulation syndrome;not specified;Ovarian Dysgenesis 2016-06-14 -6.0 1.0 Likely benign 0 -255350 Simple 2229611 C . Benign 2 1 Glycogen storage disease, type I;not specified 2016-06-14 . 1.0 . 0 -255370 Simple 3213918 A . Benign/Likely benign 2 2 Galactosylceramide beta-galactosidase deficiency;not specified 2017-07-18 -9.0 0.5 Benign/Likely benign 0 -255373 Simple 189853941 T . Benign/Likely benign 2 1 not specified 2016-12-22 . 1.0 . 0 -255376 Simple 56194647 G . Benign/Likely benign 2 1 Galactosylceramide beta-galactosidase deficiency;not specified 2016-06-14 . 1.0 . 0 -255382 Simple 9820490 A . Benign/Likely benign 2 3 Polyglucosan body disease, adult;Glycogen storage disease, type IV;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -255383 Simple 2228389 C . Benign/Likely benign 2 4 Polyglucosan body disease, adult;Glycogen storage disease, type IV;Glycogen storage disease IV, classic hepatic;not specified 2017-07-24 -17.4 1.0 Benign/Likely benign 0 -255385 Simple 2229520 A . Benign/Likely benign 2 3 Polyglucosan body disease, adult;Glycogen storage disease, type IV;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -255386 Simple 28763904 G . Benign/Likely benign 2 5 Polyglucosan body disease, adult;Glycogen storage disease, type IV;not specified;not provided 2017-03-18 -21.0 0.8 Benign/Likely benign 0 -255388 Simple 13320194 A . Benign 2 3 Polyglucosan body disease, adult;Glycogen storage disease, type IV;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -255390 Simple 17019144 T . Benign 2 3 Polyglucosan body disease, adult;Glycogen storage disease, type IV;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -255392 Simple 28763902 T . Benign/Likely benign 2 5 Polyglucosan body disease, adult;Glycogen storage disease, type IV;not specified 2016-12-27 -20.4 1.2 Benign/Likely benign 0 -255395 Simple 150271870 A . Likely benign 2 1 not specified 2016-12-05 . 1.0 . 0 -255397 Simple 28458175 A . Benign 2 3 GTP cyclohydrolase I deficiency;not specified;Dystonia, dopa-responsive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -255399 Simple 200698755 A . Likely benign 2 4 Permanent neonatal diabetes mellitus;not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Transient Neonatal Diabetes, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -255401 Simple 144723656 A . Benign/Likely benign 2 6 Permanent neonatal diabetes mellitus;not specified;not provided;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Transient Neonatal Diabetes, Recessive 2016-09-28 -20.4 1.1666666666666667 Benign/Likely benign 0 -255402 Simple 116466139 G . Benign/Likely benign 2 1 Laron-type isolated somatotropin defect;not specified 2016-06-14 . 1.0 . 0 -255404 Simple 6176 T . Benign/Likely benign 2 1 Laron-type isolated somatotropin defect;not specified 2016-06-14 . 1.0 . 0 -255408 Simple 34190075 A . Benign/Likely benign 2 1 Laron-type isolated somatotropin defect;not specified 2016-06-14 . 1.0 . 0 -255409 Simple 397824185 AA . Benign 2 3 Hypoplastic left heart syndrome 1;Oculodentodigital dysplasia;not specified;Syndactyly 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -255411 Simple 139896177 C . Likely benign 2 3 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -255413 Simple 77886553 A . Benign/Likely benign 2 3 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255414 Simple 116195563 A . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -255415 Simple 559579130 AA . Likely benign 2 3 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -255416 Simple 78280303 A . Benign 2 1 not specified 2015-03-25 . 2.0 . 0 -255419 Simple 77659679 G . Benign/Likely benign 2 1 not specified 2017-01-27 . 1.0 . 0 -255420 Simple 846273 G . Benign 2 5 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-01-27 -29.4 1.2 Benign 0 -255421 Simple 190600888 C . Likely benign 2 1 not specified;not provided 2017-06-13 . 0.0 . 0 -255422 Simple 35488756 G . Benign/Likely benign 2 5 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified;not provided 2017-06-26 -18.0 0.8 Benign/Likely benign 0 -255424 Simple 34020684 A . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-07-28 -15.0 0.75 Benign/Likely benign 0 -255428 Simple 146130351 C . Benign/Likely benign 2 1 not specified;not provided 2017-05-04 . 0.0 . 0 -255430 Simple 61754622 T . Benign/Likely benign 2 1 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;not specified 2017-05-23 . 0.0 . 0 -255433 Simple 929387 A . Benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -255434 Simple 202182779 T . Likely benign 2 1 not specified 2016-01-11 . 2.0 . 0 -255438 Simple 35448119 C . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-05-16 -15.0 0.75 Benign/Likely benign 0 -255439 Simple 530418832 T . Likely benign 2 3 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -255440 Simple 35280470 T . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-07-28 -15.0 0.75 Benign/Likely benign 0 -255441 Simple 35139358 A . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-07-28 -15.0 0.75 Benign/Likely benign 0 -255442 Simple 34089404 A . Benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -255443 Simple 35364414 A . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-07-28 -15.0 0.75 Benign/Likely benign 0 -255445 Simple 3898405 A . Benign 2 3 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -255446 Simple 846266 C . Benign 2 5 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-01-27 -30.0 1.0 Benign 0 -255450 Simple 77084911 C . Benign/Likely benign 2 5 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2017-06-07 -17.7 1.0 Benign/Likely benign 0 -255451 Simple 35961850 A . Benign 2 3 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -255452 Simple 2228098 G . Benign 2 1 Non-ketotic hyperglycinemia;not specified 2016-06-14 . 1.0 . 0 -255453 Simple 121964976 T . Benign 2 2 Non-ketotic hyperglycinemia;not specified 2017-08-08 -12.0 0.0 Benign/Likely benign 1 -255454 Simple 3215923 TT . Benign 2 2 Non-ketotic hyperglycinemia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -255455 Simple 141933811 T . Benign/Likely benign 2 2 Non-ketotic hyperglycinemia;not specified;not provided 2017-06-30 -9.0 0.0 Benign/Likely benign 0 -255456 Simple 12341698 T . Benign 2 1 Non-ketotic hyperglycinemia;not specified 2016-06-14 . 1.0 . 0 -255457 Simple 138454333 C . Benign/Likely benign 2 2 Non-ketotic hyperglycinemia;not specified 2017-08-22 -9.0 0.5 Benign/Likely benign 0 -255458 Simple 150193069 G . Benign/Likely benign 2 1 Non-ketotic hyperglycinemia;not specified 2017-04-19 . 0.0 . 0 -255459 Simple 35374927 T . Benign 2 1 Non-ketotic hyperglycinemia;not specified 2016-06-14 . 1.0 . 0 -255465 Simple 761456793 T . Likely benign 2 1 not specified 2017-04-10 . 0.0 . 0 -255466 Simple 886038267 . . Benign/Likely benign 2 1 not specified 2017-06-19 . 0.0 . 0 -255467 Simple 2586529 G . Benign 2 1 not specified 2016-10-25 . 1.0 . 0 -255468 Simple 574786279 . . Benign/Likely benign 2 1 not specified 2016-10-25 . 1.0 . 0 -255470 Simple 115005114 T . Likely benign 2 1 Bernard Soulier syndrome;not specified 2016-06-14 . 1.0 . 0 -255471 Simple 6069 A . Benign/Likely benign 2 1 Bernard Soulier syndrome;not specified 2016-06-14 . 1.0 . 0 -255472 Simple 1801015 G . Benign 2 1 not specified 2017-04-28 . 0.0 . 0 -255474 Simple 734111 C . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -255478 Simple 56348143 T . Benign 2 1 Cone-rod dystrophy 6;Leber congenital amaurosis 1;not specified 2017-08-09 . 0.0 . 0 -255481 Simple 2255543 A . Benign 2 1 Alkaptonuria;not specified 2016-06-14 . 1.0 . 0 -255483 Simple 748235 A . Benign 2 1 not specified 2017-04-11 . 0.0 . 0 -255485 Simple 1131488 T . Benign/Likely benign 2 3 Acute intermittent porphyria;Congenital disorder of glycosylation;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -255487 Simple 17075 A . Benign 2 1 Acute intermittent porphyria;not specified 2016-06-14 . 1.0 . 0 -255489 Simple 10850326 C . Benign 2 1 Holt-Oram syndrome;not specified 2016-06-14 . 1.0 . 0 -255490 Simple 200073406 T . Likely benign 2 1 Holt-Oram syndrome;not specified 2016-06-14 . 1.0 . 0 -255491 Simple 6489957 A . Benign 2 2 Holt-Oram syndrome;not specified;Aortic valve disease 2 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -255494 Simple 28730762 A . Likely benign 2 1 not specified;not provided 2017-04-28 . 0.0 . 0 -255501 Simple 17109850 C . Benign/Likely benign 2 1 Hermansky-Pudlak syndrome;not specified 2016-06-14 . 1.0 . 0 -255506 Simple 12571249 G . Benign/Likely benign 2 1 Hermansky-Pudlak syndrome;not specified 2016-06-14 . 1.0 . 0 -255507 Simple 2066474 C . Benign 2 1 not specified;17-Beta-Hydroxysteroid Dehydrogenase III Deficiency 2016-06-14 . 1.0 . 0 -255511 Simple 2066479 T . Likely benign 2 1 not specified;17-Beta-Hydroxysteroid Dehydrogenase III Deficiency 2016-06-14 . 1.0 . 0 -255512 Simple 145596938 A . Likely benign 2 1 not specified 2016-05-20 . 1.0 . 0 -255513 Simple 58786455 T . Benign/Likely benign 2 2 Mucopolysaccharidosis, MPS-III-A;Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2017-06-02 -9.0 0.5 Benign/Likely benign 0 -255514 Simple 34297805 A . Benign/Likely benign 2 1 Sanfilippo syndrome;not specified;Mucopolysaccharidosis Type III 2016-06-14 . 1.0 . 0 -255523 Simple 368368416 T . Benign/Likely benign 2 1 Mucopolysaccharidosis type I;not specified 2016-06-14 . 1.0 . 0 -255531 Simple 3842752 A . Benign/Likely benign 2 4 Segawa syndrome, autosomal recessive;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant/Recessive 2017-08-02 -18.0 0.75 Benign/Likely benign 0 -255532 Simple 5506 G . Benign 2 4 Segawa syndrome, autosomal recessive;not specified;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant/Recessive 2017-08-02 -24.0 0.75 Benign 0 -255534 Simple 117052258 C . Benign/Likely benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -255535 Simple 15908 C . Benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -255536 Simple 4642 G . Benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -255537 Simple 4634 A . Benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -255539 Simple 3809863 T . Benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -255540 Simple 5920 C . Benign/Likely benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -255541 Simple 5919 C . Benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -255542 Simple 8669 G . Benign 2 2 Epidermolysis bullosa junctionalis with pyloric atresia;Deficiency of galactokinase;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -255543 Simple 871443 C . Benign 2 2 Epidermolysis bullosa junctionalis with pyloric atresia;Deficiency of galactokinase;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -255547 Simple 80338240 C . Benign/Likely benign 2 2 Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -6.0 1.0 Likely benign 1 -255549 Simple 1801139 A . Likely benign 2 2 Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -6.0 1.0 Likely benign 0 -255557 Simple 79338570 A . Benign/Likely benign 2 3 Alagille syndrome 1;Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2017-03-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -255563 Simple 808119 T . Benign 2 1 not specified 2017-07-27 . 0.0 . 0 -255564 Simple 809446 A . Benign 2 1 not specified 2017-07-27 . 0.0 . 0 -255565 Simple 543599445 T . Likely benign 2 1 not specified 2016-06-27 . 1.0 . 0 -255569 Simple 55986963 G . Benign/Likely benign 2 4 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism;not specified 2017-08-16 -15.0 0.75 Benign/Likely benign 0 -255571 Simple 55789615 T . Benign/Likely benign 2 4 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism;not specified 2017-08-14 -15.0 0.75 Benign/Likely benign 0 -255572 Simple 3733542 C . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255573 Simple 1154226 G . Benign 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -255575 Simple 1154232 A . Benign 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -255576 Simple 1154233 G . Benign 2 2 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -255577 Simple 1258107 C . Benign 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -255578 Simple 1131521 T . Benign 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -255580 Simple 2241643 A . Benign 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -255581 Simple 958631 T . Benign 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -255582 Simple 2076351 T . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255584 Simple 2228339 A . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255586 Simple 2076349 T . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255587 Simple 2179402 G . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255588 Simple 12748250 A . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255589 Simple 3179860 C . Benign 2 2 Epidermolysis bullosa, junctional;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -255590 Simple 397807887 CC . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255591 Simple 2076222 T . Benign 2 3 Epidermolysis bullosa, junctional;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -255592 Simple 2076356 G . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255595 Simple 1049607 C . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255596 Simple 1130667 A . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255598 Simple 4844863 A . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -255604 Simple 1800354 A . Benign 2 2 Severe autosomal recessive muscular dystrophy of childhood - North African type;not specified 2017-08-11 -12.0 0.0 Benign/Likely benign 1 -255607 Simple 11125179 G . Benign 2 4 Leydig cell agenesis;Gonadotropin-independent familial sexual precocity;not specified;Hypergonadotropic hypogonadism 2017-07-26 -24.0 0.75 Benign 0 -255608 Simple 6755901 T . Benign 2 4 Leydig cell agenesis;Gonadotropin-independent familial sexual precocity;not specified;Hypergonadotropic hypogonadism 2017-07-26 -24.0 0.75 Benign 0 -255609 Simple 2293275 C . Benign 2 4 Leydig cell agenesis;Gonadotropin-independent familial sexual precocity;not specified;Hypergonadotropic hypogonadism 2017-07-26 -24.0 0.75 Benign 0 -255610 Simple 2297472 A . Benign 2 2 Wolman disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -255612 Simple 1051339 T . Benign/Likely benign 2 2 Wolman disease;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -255614 Simple 740952 A . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2016-10-24 -14.4 1.3333333333333333 Benign/Likely benign 0 -255615 Simple 224207 C . Benign/Likely benign 2 2 Familial Mediterranean fever;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -255616 Simple 371364206 T . Benign/Likely benign 2 3 Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-12-12 -12.0 0.3333333333333333 Benign/Likely benign 0 -255617 Simple 776432516 G . Likely benign 2 1 Multiple endocrine neoplasia, type 1;not specified 2017-06-14 . 0.0 . 0 -255620 Simple 886038273 T . Likely benign 2 1 not specified 2016-04-20 . 1.0 . 0 -255621 Simple 185258809 G . Benign 2 2 not specified 2016-05-12 -12.0 1.0 Benign/Likely benign 1 -255626 Simple 141519877 G . Likely benign 2 1 not specified;Hypertrophic cardiomyopathy 2017-05-27 . 0.0 . 0 -255643 Simple 190656197 T . Likely benign 2 1 not specified 2015-08-25 . 2.0 . 0 -255656 Simple 185241256 A . Likely benign 2 1 not specified;not provided 2017-05-15 . 0.0 . 0 -255657 Simple 148997257 G . Likely benign 2 1 not specified 2016-01-26 . 2.0 . 0 -255669 Simple 2277184 G . Benign/Likely benign 2 3 Gorlin syndrome;not specified;Holoprosencephaly 2017-08-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -255670 Simple 2066836 A . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-07-10 -16.8 1.25 Benign/Likely benign 0 -255677 Simple 2066829 G . Benign 2 3 Gorlin syndrome;not specified;Holoprosencephaly 2017-07-10 -18.0 0.6666666666666666 Benign/Likely benign 1 -255681 Simple 2066835 C . Benign/Likely benign 2 4 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly 2017-08-15 -18.0 0.75 Benign/Likely benign 0 -255689 Simple 2303880 G . Benign 2 1 Niemann-Pick disease, type C;not specified 2016-06-14 . 1.0 . 0 -255696 Simple 141440861 T . Likely benign 2 1 not specified 2016-04-04 . 1.0 . 0 -255701 Simple 144415945 C . Likely benign 2 1 not specified 2016-08-29 . 1.0 . 0 -255708 Simple 112090979 A . Benign 2 1 not specified 2016-04-05 . 1.0 . 0 -255716 Simple 1800404 T . Benign 2 2 not specified;Oculocutaneous albinism 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -255720 Simple 12910433 A . Benign 2 1 not specified;Oculocutaneous albinism 2016-06-14 . 1.0 . 0 -255722 Simple 1800411 A . Benign 2 2 not specified;Oculocutaneous albinism 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -255724 Simple 1800414 C . Benign 2 2 not specified;Oculocutaneous albinism 2016-08-16 -12.0 1.0 Benign/Likely benign 1 -255727 Simple 1800416 G . Benign/Likely benign 2 1 not specified;Oculocutaneous albinism 2016-06-14 . 1.0 . 0 -255730 Simple 12592307 T . Benign 2 1 not specified;Oculocutaneous albinism 2016-06-14 . 1.0 . 0 -255733 Simple 372637021 A . Benign/Likely benign 2 3 Phenylketonuria;not specified 2017-08-17 -12.0 0.3333333333333333 Benign/Likely benign 0 -255734 Simple 9518061 G . Benign 2 1 not specified 2016-08-25 . 1.0 . 0 -255735 Simple 147037340 - . Benign 2 2 Propionic acidemia;not specified 2012-11-15 -6.6 6.0 Likely benign 2 -255738 Simple 115960224 A . Benign/Likely benign 2 2 not specified;not provided 2017-08-31 -9.0 0.5 Benign/Likely benign 0 -255739 Simple 2274516 T . Benign 2 1 Peroxisome biogenesis disorders, Zellweger syndrome spectrum;not specified 2017-06-09 . 0.0 . 0 -255744 Simple 555409430 - . Likely benign 2 1 not specified 2016-08-12 . 1.0 . 0 -255745 Simple 115866467 A . Benign/Likely benign 2 3 Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata;not specified 2016-10-31 -12.0 1.0 Benign/Likely benign 0 -255746 Simple 113268723 C . Benign/Likely benign 2 5 not specified;not provided 2017-05-09 -20.4 1.0 Benign/Likely benign 0 -255750 Simple 56117548 T . Benign/Likely benign 2 2 Glycogen storage disease, type VII;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -255756 Simple 41291971 A . Likely benign 2 1 not specified 2017-05-15 . 0.0 . 0 -255757 Simple 11168427 G . Benign 2 2 Glycogen storage disease, type VII;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -255758 Simple 8716 G . Benign 2 3 Glycogen storage disease, type VII;not specified;not provided 2017-04-13 -17.4 1.0 Benign/Likely benign 1 -255759 Simple 2228501 A . Benign/Likely benign 2 3 Glycogen storage disease, type VII;not specified 2017-04-13 -14.4 1.0 Benign/Likely benign 0 -255760 Simple 2228500 A . Benign 2 4 Glycogen storage disease, type VII;not specified 2016-09-30 -22.8 1.5 Benign/Likely benign 1 -255761 Simple 11552507 T . Benign/Likely benign 2 3 Glycogen storage disease, type VII;not specified 2017-08-03 -14.4 1.0 Benign/Likely benign 0 -255763 Simple 1049392 T . Benign 2 3 Glycogen storage disease, type VII;not specified 2017-04-17 -17.4 1.0 Benign/Likely benign 1 -255768 Simple 17313469 G . Benign 2 2 Glycogen storage disease type IXa1;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -255770 Simple 149991825 T . Benign 2 2 not specified;not provided 2017-01-05 -12.0 1.0 Benign/Likely benign 1 -255771 Simple 143732206 C . Benign 2 1 not specified 2016-07-05 . 1.0 . 0 -255772 Simple 148877451 G . Benign 2 1 not specified 2016-03-14 . 1.0 . 0 -255773 Simple 61733281 T . Benign 2 1 not specified 2016-02-22 . 2.0 . 0 -255774 Simple 61729452 T . Benign 2 2 Glycogen storage disease type IXa1;not specified 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -255777 Simple 112249974 C . Benign 2 1 not specified 2016-08-02 . 1.0 . 0 -255778 Simple 140662042 A . Benign 2 2 Glycogen storage disease type IXa1;not specified 2017-08-03 -11.4 1.0 Benign/Likely benign 1 -255779 Simple 61733284 T . Benign 2 2 not specified 2016-06-09 -11.4 1.5 Benign/Likely benign 1 -255783 Simple 56029513 T . Likely benign 2 1 not specified 2017-05-15 . 0.0 . 0 -255789 Simple 376901684 C . Benign/Likely benign 2 1 Polycystic kidney disease, autosomal dominant;not specified 2016-06-14 . 1.0 . 0 -255791 Simple 144968710 A . Benign/Likely benign 2 2 Polycystic kidney disease, autosomal dominant;not specified 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -255794 Simple 181704860 T . Benign/Likely benign 2 2 Polycystic kidney disease, autosomal dominant;not specified 2017-06-07 -9.0 0.5 Benign/Likely benign 0 -255795 Simple 541702320 T . Benign/Likely benign 2 1 Polycystic kidney disease, autosomal dominant;not specified 2017-06-30 . 0.0 . 0 -255796 Simple 62310565 T . Benign 2 2 not specified 2016-07-27 -12.0 1.0 Benign/Likely benign 1 -255797 Simple 1052177 G . Benign 2 1 Pyruvate kinase deficiency of red cells;not specified 2016-06-14 . 1.0 . 0 -255798 Simple 1052176 T . Benign 2 2 Pyruvate kinase deficiency of red cells;not specified 2017-04-17 -12.0 0.5 Benign/Likely benign 1 -255799 Simple 1130529 T . Benign 2 3 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2016-09-29 -17.4 1.3333333333333333 Benign/Likely benign 1 -255802 Simple 2230898 C . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2016-10-05 -9.0 1.0 Benign/Likely benign 0 -255803 Simple 7529452 T . Benign 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -255804 Simple 2273285 T . Benign 2 3 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2017-06-07 -18.0 0.6666666666666666 Benign/Likely benign 1 -255808 Simple 1799810 T . Benign/Likely benign 2 1 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;not specified 2016-06-14 . 1.0 . 0 -255809 Simple 5936 T . Benign/Likely benign 2 1 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;not specified 2016-06-14 . 1.0 . 0 -255810 Simple 5937 C . Benign/Likely benign 2 1 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;not specified 2016-06-14 . 1.0 . 0 -255811 Simple 6123 C . Benign/Likely benign 2 1 Protein S deficiency;not specified 2016-06-14 . 1.0 . 0 -255816 Simple 694 T . Benign 2 1 Hypoparathyroidism familial isolated;not specified 2016-06-14 . 1.0 . 0 -255817 Simple 6256 T . Benign 2 1 Hypoparathyroidism familial isolated;not specified 2016-06-14 . 1.0 . 0 -255818 Simple 112108739 T . Benign/Likely benign 2 2 Zellweger syndrome;not specified;Peroxisome biogenesis disorder 5a (zellweger) 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -255819 Simple 2597775 T . Benign 2 1 not specified;BH4-Deficient Hyperphenylalaninemia 2016-06-14 . 1.0 . 0 -255821 Simple 200658795 G . Benign/Likely benign 2 1 Retinoblastoma;not specified 2016-06-14 . 1.0 . 0 -255828 Simple 377731326 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-06-21 . 0.0 . 0 -255832 Simple 28718831 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-25 . 0.0 . 0 -255835 Simple 34117835 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-28 . 0.0 . 0 -255836 Simple 5963403 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-25 . 0.0 . 0 -255837 Simple 62640590 G . Benign/Likely benign 2 1 not specified;not provided 2016-07-22 . 1.0 . 0 -255845 Simple 73326363 T . Benign/Likely benign 2 1 not specified 2017-07-11 . 0.0 . 0 -255846 Simple 111926172 G . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-07-10 -27.0 0.8571428571428571 Benign 1 -255847 Simple 117664682 T . Benign/Likely benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;not provided;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-07-28 -32.4 1.0 Benign 1 -255848 Simple 373597946 A . Likely benign 2 1 not specified 2017-07-21 . 0.0 . 0 -255849 Simple 111679484 C . Benign/Likely benign 2 8 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-07 -32.4 0.875 Benign 1 -255850 Simple 9303466 A . Benign 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-05-15 -12.0 0.5 Benign/Likely benign 1 -255851 Simple 77844100 A . Benign/Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-08-02 -21.0 1.0 Benign/Likely benign 0 -255854 Simple 141215137 A . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-06-14 -24.0 0.8571428571428571 Benign 1 -255858 Simple 146590697 C . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-07-19 -26.4 1.0 Benign 1 -255859 Simple 116469710 T . Benign 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-06-27 -12.0 0.5 Benign/Likely benign 1 -255860 Simple 542836462 - . Benign 2 2 not specified 2016-12-07 -12.0 1.0 Benign/Likely benign 1 -255862 Simple 73326368 A . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-07 -27.0 0.8571428571428571 Benign 1 -255864 Simple 112142736 A . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-07-10 -27.0 0.8571428571428571 Benign 1 -255866 Simple 35074083 T . Benign/Likely benign 2 1 not specified 2017-02-20 . 1.0 . 0 -255867 Simple 13306628 A . Benign/Likely benign 2 4 Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive 2016-06-23 -15.0 1.0 Benign/Likely benign 0 -255869 Simple 374790317 T . Likely benign 2 1 not specified 2017-10-31 . 0.0 . 0 -255870 Simple 182715924 T . Benign/Likely benign 2 1 not specified 2015-05-14 . 2.0 . 0 -255872 Simple 6493311 C . Benign 2 2 not specified;Antenatal Bartter Syndrome 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -255874 Simple 1552311 C . Benign 2 2 Bartter syndrome, type 1, antenatal;not specified;Antenatal Bartter Syndrome 2017-05-31 -12.0 0.5 Benign/Likely benign 1 -255876 Simple 2229209 T . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -255879 Simple 5801 T . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -255880 Simple 2304483 C . Benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -255881 Simple 35797045 A . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -255882 Simple 61746763 G . Benign/Likely benign 2 1 Familial hypokalemia-hypomagnesemia;not specified 2016-06-14 . 1.0 . 0 -255883 Simple 5802 A . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -255884 Simple 5803 T . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -255885 Simple 13306676 T . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -255887 Simple 5804 T . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -255888 Simple 11643718 A . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -255889 Simple 34772420 C . Benign/Likely benign 2 1 Familial hypokalemia-hypomagnesemia;not specified 2016-06-14 . 1.0 . 0 -255891 Simple 2289115 T . Benign 2 1 Familial hypokalemia-hypomagnesemia;not specified 2016-06-14 . 1.0 . 0 -255892 Simple 2304479 G . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -255895 Simple 5407 G . Benign/Likely benign 2 3 Fanconi-Bickel syndrome;not specified 2017-08-01 -14.4 1.0 Benign/Likely benign 0 -255898 Simple 1800572 T . Benign/Likely benign 2 1 not specified 2017-03-10 . 0.0 . 0 -255899 Simple 5405 A . Likely benign 2 2 not specified 2016-10-27 -5.7 1.5 Likely benign 0 -255900 Simple 5406 A . Benign 2 2 Fanconi-Bickel syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -255903 Simple 5035 G . Benign/Likely benign 2 3 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255904 Simple 5015 A . Benign/Likely benign 2 3 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255905 Simple 5017 T . Benign/Likely benign 2 4 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2017-04-13 -15.0 0.75 Benign/Likely benign 0 -255906 Simple 145502796 T . Benign/Likely benign 2 3 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255907 Simple 35807245 T . Benign/Likely benign 2 3 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255909 Simple 5021 A . Benign/Likely benign 2 3 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255911 Simple 5026 T . Benign/Likely benign 2 4 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2017-04-28 -15.0 0.75 Benign/Likely benign 0 -255912 Simple 45497993 G . Benign/Likely benign 2 4 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2017-04-28 -15.0 0.75 Benign/Likely benign 0 -255913 Simple 45519733 A . Benign/Likely benign 2 3 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255915 Simple 5013 T . Benign/Likely benign 2 3 Hemolytic anemia;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255922 Simple 1801666 A . Benign/Likely benign 2 5 not specified;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -17.4 1.2 Benign/Likely benign 0 -255923 Simple 55860151 - . Benign 2 4 not specified;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -24.0 1.0 Benign 0 -255926 Simple 375179475 T . Benign/Likely benign 2 1 not specified 2015-09-01 . 2.0 . 0 -255930 Simple 137873871 A . Benign/Likely benign 2 3 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -255932 Simple 113282901 T . Benign/Likely benign 2 4 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-09-29 -15.0 1.0 Benign/Likely benign 0 -255934 Simple 181998151 A . Benign/Likely benign 2 1 not specified 2017-02-28 . 1.0 . 0 -255935 Simple 78302875 T . Benign/Likely benign 2 1 not specified;Hypertyrosinemia 2016-06-14 . 1.0 . 0 -255936 Simple 1133170 T . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -255937 Simple 4669 C . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -255939 Simple 1442 C . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -255940 Simple 1054124 G . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -255941 Simple 1126432 T . Benign/Likely benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -255942 Simple 35755034 T . Benign/Likely benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -255943 Simple 9862 C . Benign 2 1 Pseudoinflammatory fundus dystrophy;not specified 2016-06-14 . 1.0 . 0 -255946 Simple 777823426 A . Likely benign 2 1 Tuberous sclerosis 1;not specified 2017-08-02 . 0.0 . 0 -255947 Simple 371733518 T . Likely benign 2 1 not specified 2016-10-11 . 1.0 . 0 -255949 Simple 200135828 T . Likely benign 2 1 not specified 2017-01-13 . 1.0 . 0 -255951 Simple 113951800 A . Benign/Likely benign 2 2 Hyperthyroidism, nonautoimmune;Congenital hypothyroidism;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -255952 Simple 2241119 G . Benign/Likely benign 2 2 Hyperthyroidism, nonautoimmune;Congenital hypothyroidism;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -255953 Simple 2075179 C . Benign/Likely benign 2 2 Hyperthyroidism, nonautoimmune;Congenital hypothyroidism;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -255958 Simple 13146 T . Benign 2 1 Orotic aciduria;not specified 2016-06-14 . 1.0 . 0 -255959 Simple 17843776 G . Benign/Likely benign 2 2 Orotic aciduria;not specified;Hereditary orotic aciduria, type 1 2017-07-03 -9.0 0.5 Benign/Likely benign 0 -255960 Simple 74349352 A . Likely benign 2 1 Porphyria cutanea tarda;not specified 2016-06-14 . 1.0 . 0 -255961 Simple 2228084 G . Benign/Likely benign 2 1 Porphyria cutanea tarda;not specified 2016-06-14 . 1.0 . 0 -255964 Simple 58371799 CC . Benign/Likely benign 2 1 Severe congenital neutropenia X-linked;Thrombocytopenia, X-linked;Wiskott-Aldrich syndrome;not specified 2017-07-31 . 0.0 . 0 -255965 Simple 149123892 T . Benign/Likely benign 2 1 Severe congenital neutropenia X-linked;Thrombocytopenia, X-linked;Wiskott-Aldrich syndrome;not specified 2017-07-13 . 0.0 . 0 -255966 Simple 17011368 C . Benign/Likely benign 2 1 not specified;Xanthinuria 2016-06-14 . 1.0 . 0 -255967 Simple 2295475 A . Benign 2 1 not specified;Xanthinuria 2016-06-14 . 1.0 . 0 -255968 Simple 1884725 G . Benign 2 1 not specified;Xanthinuria 2016-06-14 . 1.0 . 0 -255969 Simple 13415401 C . Benign 2 1 not specified;Xanthinuria 2016-06-14 . 1.0 . 0 -255970 Simple 207440 T . Benign/Likely benign 2 1 not specified;Xanthinuria 2016-06-14 . 1.0 . 0 -255971 Simple 72650679 T . Benign/Likely benign 2 1 Polyglandular autoimmune syndrome, type 1;not specified 2017-06-05 . 0.0 . 0 -255972 Simple 12713554 A . Benign/Likely benign 2 4 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1 2017-08-17 -18.0 0.5 Benign/Likely benign 0 -255974 Simple 12720852 A . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1 2017-08-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -255975 Simple 12720851 A . Benign/Likely benign 2 5 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1 2017-08-21 -24.0 0.6 Benign 1 -255980 Simple 72653066 G . Benign/Likely benign 2 4 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-26 -15.0 0.75 Benign/Likely benign 0 -255983 Simple 17240441 - . Benign/Likely benign 2 4 Familial hypercholesterolemia;not specified 2016-10-27 -19.8 1.5 Benign/Likely benign 0 -255984 Simple 12720770 T . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1 2017-08-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -255986 Simple 72653090 G . Likely benign 2 2 Familial hypercholesterolemia;not specified 2017-07-27 -6.0 0.5 Likely benign 0 -255992 Simple 2273697 A . Benign 2 1 Dubin-Johnson syndrome;not specified 2016-06-14 . 1.0 . 0 -255993 Simple 113646094 G . Benign/Likely benign 2 1 Dubin-Johnson syndrome;not specified 2016-06-14 . 1.0 . 0 -255996 Simple 745767713 T . Likely benign 2 1 not specified 2016-12-06 . 1.0 . 0 -256005 Simple 768645507 C . Likely benign 2 1 not specified 2016-03-31 . 1.0 . 0 -256008 Simple 79100529 T . Benign/Likely benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -256009 Simple 61735857 A . Benign/Likely benign 2 2 Cataract, autosomal dominant;not specified;Congenital cataract 2016-09-15 -9.0 1.0 Benign/Likely benign 0 -256010 Simple 872331 T . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -256011 Simple 5996200 T . Benign 2 1 not specified 2017-05-02 . 0.0 . 0 -256013 Simple 45602133 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type I;not specified;Charcot-Marie-Tooth, Type 1 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -256018 Simple 1052555 A . Benign 2 2 Xeroderma pigmentosum;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256019 Simple 3916881 T . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -256021 Simple 238406 G . Benign 2 2 Xeroderma pigmentosum;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256022 Simple 1799785 G . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -256024 Simple 4302331 A . Benign 2 1 Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis;GM1 Gangliosidosis;not specified 2017-06-16 . 0.0 . 0 -256027 Simple 770638519 A . Likely benign 2 1 not specified 2016-10-19 . 1.0 . 0 -256029 Simple 9324685 T . Benign 2 1 Tay-Sachs disease, variant AB;not specified 2016-06-14 . 1.0 . 0 -256030 Simple 1048719 A . Benign/Likely benign 2 2 Tay-Sachs disease, variant AB;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -256032 Simple 34925828 T . Benign/Likely benign 2 2 not specified;Cone/cone-rod dystrophy;Retinitis Pigmentosa, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -256033 Simple 77014096 C . Likely benign 2 1 Holocarboxylase synthetase deficiency;not specified 2016-06-14 . 1.0 . 0 -256038 Simple 12938868 A . Benign/Likely benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -256039 Simple 850730 C . Benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -256040 Simple 5910 A . Benign 2 1 Glanzmann thrombasthenia;not specified 2016-06-14 . 1.0 . 0 -256041 Simple 74093478 T . Benign/Likely benign 2 1 Epidermolysis bullosa simplex;not specified 2016-06-14 . 1.0 . 0 -256042 Simple 61747182 T . Likely benign 2 1 Epidermolysis bullosa simplex;not specified 2016-06-14 . 1.0 . 0 -256043 Simple 11549951 A . Benign 2 1 Epidermolysis bullosa simplex;not specified 2016-06-14 . 1.0 . 0 -256044 Simple 60314569 A . Benign 2 1 Epidermolysis bullosa simplex;not specified 2016-06-14 . 1.0 . 0 -256047 Simple 375076231 T . Likely benign 2 1 not specified 2016-03-21 . 1.0 . 0 -256054 Simple 191215452 C . Likely benign 2 1 not specified 2017-08-17 . 0.0 . 0 -256056 Simple 199846930 A . Benign/Likely benign 2 1 not specified 2016-04-18 . 1.0 . 0 -256066 Simple 372962551 - . Benign 2 1 not specified 2016-05-27 . 1.0 . 0 -256073 Simple 73591259 G . Benign 2 1 not specified 2016-04-22 . 1.0 . 0 -256074 Simple 151199929 T . Benign/Likely benign 2 1 Laminin alpha 2-related dystrophy;not specified 2017-07-25 . 0.0 . 0 -256080 Simple 147857398 A . Benign/Likely benign 2 2 not specified 2016-04-20 -8.7 1.5 Benign/Likely benign 0 -256095 Simple 55776770 A . Benign 2 1 not specified 2016-01-13 . 2.0 . 0 -256096 Simple 61738025 T . Benign/Likely benign 2 2 Weill-Marchesani syndrome;not specified;Primary congenital glaucoma 2016-06-14 -6.0 1.0 Likely benign 1 -256097 Simple 699374 G . Benign/Likely benign 2 3 Weill-Marchesani syndrome;not specified;Primary congenital glaucoma 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -256098 Simple 78258030 A . Benign/Likely benign 2 2 Weill-Marchesani syndrome;not specified;Primary congenital glaucoma 2016-06-14 -6.0 1.0 Likely benign 1 -256100 Simple 144520047 G . Benign/Likely benign 2 1 not specified 2016-06-04 . 1.0 . 0 -256101 Simple 2304707 T . Benign/Likely benign 2 2 Weill-Marchesani syndrome;not specified;Primary congenital glaucoma 2016-06-14 -6.0 1.0 Likely benign 1 -256103 Simple 2994388 A . Benign 2 1 Hepatic methionine adenosyltransferase deficiency;not specified 2016-06-14 . 1.0 . 0 -256104 Simple 2993763 A . Benign 2 1 Hepatic methionine adenosyltransferase deficiency;not specified 2016-06-14 . 1.0 . 0 -256105 Simple 1143694 G . Benign 2 1 Hepatic methionine adenosyltransferase deficiency;not specified 2016-06-14 . 1.0 . 0 -256106 Simple 10788546 C . Benign 2 2 Hepatic methionine adenosyltransferase deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256107 Simple 10887711 G . Benign 2 2 Hepatic methionine adenosyltransferase deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256108 Simple 10887721 C . Benign 2 1 Hepatic methionine adenosyltransferase deficiency;not specified 2016-06-14 . 1.0 . 0 -256109 Simple 147692085 C . Benign/Likely benign 2 2 not specified;Lissencephaly/Subcortical Band Heterotopia 2017-05-22 -6.0 0.5 Likely benign 1 -256113 Simple 67886029 T . Benign/Likely benign 2 3 Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -256115 Simple 17849502 T . Benign/Likely benign 2 2 Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;Chronic granulomatous disease;not specified 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -256116 Simple 2274064 C . Benign 2 2 Chronic granulomatous disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256117 Simple 61749020 G . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-05-31 -9.0 0.5 Benign/Likely benign 0 -256118 Simple 10423702 C . Benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256120 Simple 11670799 A . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-05-15 -9.0 0.5 Benign/Likely benign 0 -256121 Simple 114207045 A . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -256122 Simple 79926127 T . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -256123 Simple 35793356 A . Benign/Likely benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256125 Simple 10406745 T . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -256126 Simple 140040122 A . Benign/Likely benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256128 Simple 190177286 C . Likely benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256129 Simple 1043996 A . Benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-05-17 -12.0 0.5 Benign/Likely benign 1 -256130 Simple 1043997 C . Benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256131 Simple 3815188 A . Benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -256132 Simple 112197217 T . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -256133 Simple 10408676 T . Benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-05-19 -12.0 0.5 Benign/Likely benign 1 -256137 Simple 141320511 T . Likely benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256138 Simple 1044006 C . Benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256139 Simple 78501403 G . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -256140 Simple 1548555 G . Benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256142 Simple 35887416 A . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-06-21 -9.0 0.5 Benign/Likely benign 0 -256143 Simple 34480308 A . Benign/Likely benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256144 Simple 16980398 G . Benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256145 Simple 4809030 G . Benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256146 Simple 115582213 T . Benign/Likely benign 2 3 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified;not provided 2017-07-25 -15.0 0.3333333333333333 Benign/Likely benign 0 -256147 Simple 142007575 T . Benign/Likely benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256148 Simple 1043994 C . Benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256149 Simple 114887570 A . Benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-06-14 -12.0 0.5 Benign/Likely benign 1 -256150 Simple 114447350 A . Benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-05-02 -12.0 0.5 Benign/Likely benign 1 -256151 Simple 1044008 T . Benign 2 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 . 1.0 . 0 -256152 Simple 1044009 A . Benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256153 Simple 61731975 A . Benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-05-02 -12.0 0.5 Benign/Likely benign 1 -256154 Simple 61731974 G . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-05-17 -9.0 0.5 Benign/Likely benign 0 -256156 Simple 45449704 T . Benign/Likely benign 2 4 Progressive intrahepatic cholestasis;not specified;Familial Intrahepatic Cholestasis 2016-09-13 -14.4 1.25 Benign/Likely benign 0 -256157 Simple 8187789 A . Benign/Likely benign 2 3 Progressive intrahepatic cholestasis;not specified;Familial Intrahepatic Cholestasis 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -256158 Simple 2302387 A . Benign 2 3 Progressive intrahepatic cholestasis;not specified;Familial Intrahepatic Cholestasis 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -256160 Simple 2230028 C . Benign 2 4 Progressive intrahepatic cholestasis;not specified;Familial Intrahepatic Cholestasis 2016-07-13 -23.4 1.25 Benign/Likely benign 1 -256161 Simple 31668 A . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -256162 Simple 45593648 A . Benign/Likely benign 2 1 not specified 2016-07-05 . 1.0 . 0 -256164 Simple 31653 G . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -256165 Simple 2230027 G . Benign/Likely benign 2 3 Progressive intrahepatic cholestasis;not specified;Familial Intrahepatic Cholestasis 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -256166 Simple 2109505 A . Benign/Likely benign 2 4 Progressive intrahepatic cholestasis;not specified;Familial Intrahepatic Cholestasis 2016-07-13 -17.4 1.25 Benign/Likely benign 0 -256167 Simple 3752433 T . Benign 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -256169 Simple 146781600 T . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-04 -12.0 0.5 Benign/Likely benign 0 -256176 Simple 62522552 A . Benign 2 1 not specified 2016-01-05 . 2.0 . 0 -256179 Simple 199720608 C . Benign/Likely benign 2 1 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 . 0.0 . 0 -256180 Simple 6759 T . Benign/Likely benign 2 3 Alzheimer disease, type 4;Early-Onset Familial Alzheimer Disease;not specified;Dilated Cardiomyopathy, Dominant 2017-04-25 -12.0 0.6666666666666666 Benign/Likely benign 0 -256181 Simple 1046240 T . Benign/Likely benign 2 3 Alzheimer disease, type 4;Early-Onset Familial Alzheimer Disease;not specified;Dilated Cardiomyopathy, Dominant 2017-04-25 -12.0 0.6666666666666666 Benign/Likely benign 0 -256183 Simple 114334281 T . Benign/Likely benign 2 2 Early-Onset Familial Alzheimer Disease;not specified;Dilated Cardiomyopathy, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -256184 Simple 11405 C . Benign/Likely benign 2 3 Early-Onset Familial Alzheimer Disease;not specified;Dilated Cardiomyopathy, Dominant 2017-07-24 -12.0 0.6666666666666666 Benign/Likely benign 0 -256185 Simple 61730652 C . Benign/Likely benign 2 2 Early-Onset Familial Alzheimer Disease;not specified;Dilated Cardiomyopathy, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -256187 Simple 6426553 T . Benign/Likely benign 2 3 Alzheimer disease, type 4;Early-Onset Familial Alzheimer Disease;not specified;Dilated Cardiomyopathy, Dominant 2017-06-12 -12.0 0.6666666666666666 Benign/Likely benign 0 -256188 Simple 4151031 A . Benign 2 1 Combined cellular and humoral immune defects with granulomas;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified 2017-07-25 . 0.0 . 0 -256189 Simple 2227973 G . Benign 2 3 Histiocytic medullary reticulosis;not specified;Severe Combined Immune Deficiency 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -256190 Simple 1980131 G . Benign/Likely benign 2 3 Histiocytic medullary reticulosis;not specified;Severe Combined Immune Deficiency 2017-04-05 -12.0 0.6666666666666666 Benign/Likely benign 0 -256194 Simple 181143203 A . Benign 2 1 not specified 2016-09-21 . 1.0 . 0 -256195 Simple 73520743 C . Benign/Likely benign 2 1 not specified;Thyroid Hormonogenesis Defect 2016-06-14 . 1.0 . 0 -256197 Simple 77947605 T . Benign/Likely benign 2 1 not specified;Thyroid Hormonogenesis Defect 2016-06-14 . 1.0 . 0 -256199 Simple 4808708 A . Benign/Likely benign 2 1 not specified;Thyroid Hormonogenesis Defect 2016-06-14 . 1.0 . 0 -256203 Simple 3764640 T . Benign 2 1 not specified 2017-01-26 . 1.0 . 0 -256207 Simple 776823114 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -8.4 1.3333333333333333 Benign/Likely benign 1 -256208 Simple 374147918 A . Likely benign 2 1 Peutz-Jeghers syndrome;not specified 2016-05-05 . 1.0 . 0 -256209 Simple 202151409 C . Benign/Likely benign 2 2 Familial hypoplastic, glomerulocystic kidney;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -256211 Simple 35794435 C . Benign/Likely benign 2 2 Essential thrombocythemia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -256212 Simple 55827759 GGAAGGAA . Benign/Likely benign 2 1 Essential thrombocythemia;not specified 2016-06-14 . 1.0 . 0 -256214 Simple 5031011 A . Benign/Likely benign 2 3 not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -256216 Simple 12386703 C . Likely benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -256220 Simple 150005994 - . Benign/Likely benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -256221 Simple 113104510 G . Benign/Likely benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -256229 Simple 3200256 T . Benign/Likely benign 2 1 Hypophosphatasia;not specified 2016-06-14 . 1.0 . 0 -256234 Simple 75829132 G . Benign 2 1 Hypophosphatasia;not specified 2016-06-14 . 1.0 . 0 -256237 Simple 74063111 C . Benign 2 1 Hypophosphatasia;not specified 2016-06-14 . 1.0 . 0 -256238 Simple 3200255 G . Benign 2 2 Hypophosphatasia;not specified 2017-06-12 -12.0 0.5 Benign/Likely benign 1 -256240 Simple 11715915 T . Benign 2 1 Non-ketotic hyperglycinemia;not specified 2016-06-14 . 1.0 . 0 -256241 Simple 35400945 A . Benign/Likely benign 2 1 Nephrogenic diabetes insipidus;not specified 2016-06-14 . 1.0 . 0 -256242 Simple 60629501 T . Likely benign 2 1 Nephrogenic diabetes insipidus;not specified 2016-06-14 . 1.0 . 0 -256243 Simple 3741559 A . Benign 2 1 Nephrogenic diabetes insipidus;not specified 2016-06-14 . 1.0 . 0 -256247 Simple 5878 C . Benign/Likely benign 2 1 Antithrombin III deficiency;not specified 2016-06-14 . 1.0 . 0 -256248 Simple 5877 C . Benign/Likely benign 2 1 Antithrombin III deficiency;not specified 2016-06-14 . 1.0 . 0 -256251 Simple 151235408 T . Likely benign 2 1 Cystic fibrosis;not specified 2017-06-15 . 0.0 . 0 -256253 Simple 1800120 T . Benign/Likely benign 2 1 Cystic fibrosis;not specified 2017-03-22 . 0.0 . 0 -256255 Simple 114402068 T . Benign/Likely benign 2 3 Cystic fibrosis;not specified 2017-03-02 -14.4 1.3333333333333333 Benign/Likely benign 0 -256256 Simple 1800502 G . Benign 2 2 not specified 2016-12-05 -12.0 1.0 Benign/Likely benign 1 -256257 Simple 1800084 G . Likely benign 2 1 Cystic fibrosis;not specified 2017-03-28 . 0.0 . 0 -256259 Simple 111661664 GGG . Benign 2 1 not specified;Metaphyseal chondrodysplasia 2016-06-14 . 1.0 . 0 -256260 Simple 2228547 G . Benign 2 1 not specified;Metaphyseal chondrodysplasia 2016-06-14 . 1.0 . 0 -256261 Simple 2228548 G . Benign 2 1 not specified;Metaphyseal chondrodysplasia 2016-06-14 . 1.0 . 0 -256262 Simple 1064583 G . Benign 2 1 not specified;Metaphyseal chondrodysplasia 2016-06-14 . 1.0 . 0 -256263 Simple 805701 A . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256264 Simple 17116471 C . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256265 Simple 11191910 A . Benign/Likely benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256266 Simple 805698 T . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256267 Simple 805722 C . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256269 Simple 4918079 A . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256270 Simple 2296219 T . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256271 Simple 2274100 C . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256273 Simple 2476958 G . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256274 Simple 2274098 C . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256275 Simple 17116350 C . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256276 Simple 805708 A . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -256277 Simple 142883891 A . Benign/Likely benign 2 1 not specified;not provided 2016-06-07 . 1.0 . 0 -256281 Simple 16986560 T . Benign 2 1 Cataract 3, multiple types;not specified 2017-05-11 . 0.0 . 0 -256290 Simple 147821751 A . Likely benign 2 1 not specified 2016-08-15 . 1.0 . 0 -256300 Simple 6477 G . Benign 2 1 21-hydroxylase deficiency;not specified 2017-04-13 . 0.0 . 0 -256305 Simple 45618836 G . Benign 2 1 not specified 2016-04-25 . 1.0 . 0 -256308 Simple 5960 T . Benign 2 1 Factor X deficiency;not specified 2016-06-14 . 1.0 . 0 -256309 Simple 17876032 A . Benign 2 4 not specified;Reduced factor XII activity;Hereditary Angioedema;Hypophosphatemic Nephrolithiasis/Osteoporosis 2016-06-14 -24.0 1.0 Benign 0 -256310 Simple 17876030 G . Benign 2 3 not specified;Reduced factor XII activity;Hereditary Angioedema 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -256315 Simple 2070852 C . Benign/Likely benign 2 3 Thrombophilia;Hereditary factor II deficiency disease;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -256316 Simple 3136452 T . Benign/Likely benign 2 2 Thrombophilia;Hereditary factor II deficiency disease;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -256317 Simple 5896 T . Benign/Likely benign 2 2 Thrombophilia;Hereditary factor II deficiency disease;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -256318 Simple 9695 A . Benign/Likely benign 2 1 Fructose-biphosphatase deficiency;not specified 2016-06-14 . 1.0 . 0 -256320 Simple 8192689 A . Benign/Likely benign 2 2 Fructose-biphosphatase deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -256322 Simple 1042144 A . Benign/Likely benign 2 2 Fructose-biphosphatase deficiency;not specified 2016-06-14 -6.6 3.0 Likely benign 1 -256323 Simple 1769259 T . Benign 2 1 Fructose-biphosphatase deficiency;not specified 2016-06-14 . 1.0 . 0 -256324 Simple 2297084 A . Benign/Likely benign 2 1 Fructose-biphosphatase deficiency;not specified 2016-06-14 . 1.0 . 0 -256326 Simple 1769257 C . Benign 2 1 Fructose-biphosphatase deficiency;not specified 2016-06-14 . 1.0 . 0 -256330 Simple 11076715 T . Benign 2 2 Adenine phosphoribosyltransferase deficiency;Morquio syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256345 Simple 10768683 G . Benign 2 1 not specified 2015-05-15 . 2.0 . 0 -256347 Simple 558554234 A . Likely benign 2 1 not specified 2017-05-30 . 0.0 . 0 -256352 Simple 117513345 T . Benign/Likely benign 2 4 Tay-Sachs disease;not specified 2016-11-16 -21.0 1.0 Benign/Likely benign 0 -256355 Simple 77499935 G . Benign/Likely benign 2 3 Sandhoff disease;not specified;not provided 2017-02-27 -15.0 1.0 Benign/Likely benign 0 -256361 Simple 78084621 - . Benign 2 1 not specified 2013-10-21 . 4.0 . 0 -256362 Simple 143276279 A . Benign/Likely benign 2 1 not specified 2016-08-30 . 1.0 . 0 -256370 Simple 145777402 C . Benign 2 1 not specified 2016-06-20 . 1.0 . 0 -256378 Simple 16929093 C . Benign/Likely benign 2 3 Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified;Severe Combined Immune Deficiency 2017-08-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -256379 Simple 5705 G . Benign 2 2 Renal dysplasia;not specified;Familial juvenile hyperuricemic nephropathy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256381 Simple 113310993 T . Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Dominant/Recessive 2016-06-14 -6.0 1.0 Likely benign 0 -256382 Simple 2071093 A . Benign 2 2 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Dominant/Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256383 Simple 7984 G . Benign 2 2 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Dominant/Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256384 Simple 56340615 T . Benign 2 2 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Dominant/Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256388 Simple 756915119 C . Likely benign 2 1 not specified 2016-10-20 . 1.0 . 0 -256391 Simple 368360689 A . Benign/Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-05-22 -18.0 0.8 Benign/Likely benign 0 -256396 Simple 181147531 G . Benign/Likely benign 2 1 not specified 2016-08-09 . 1.0 . 0 -256404 Simple 369650355 A . Likely benign 2 4 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256408 Simple 149770144 T . Likely benign 2 1 not specified;RYR1-Related Disorders 2017-07-18 . 0.0 . 0 -256416 Simple 116792069 A . Benign 2 1 not specified 2016-07-20 . 1.0 . 0 -256417 Simple 181590606 C . Benign 2 1 not specified 2016-02-24 . 2.0 . 0 -256426 Simple 375750351 A . Likely benign 2 1 not specified;RYR1-Related Disorders 2017-06-20 . 0.0 . 0 -256433 Simple 59468283 A . Likely benign 2 2 not specified;RYR1-Related Disorders 2017-08-10 -6.0 0.0 Likely benign 0 -256434 Simple 140750876 A . Likely benign 2 1 not specified;RYR1-Related Disorders 2017-07-27 . 0.0 . 0 -256454 Simple 2229149 A . Likely benign 2 4 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256465 Simple 116591968 G . Benign/Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-03-07 -18.0 0.8 Benign/Likely benign 0 -256468 Simple 78835441 T . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-07-20 -24.0 0.8333333333333334 Benign 1 -256470 Simple 113389877 T . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-10-23 -29.7 0.875 Benign 1 -256471 Simple 34097444 A . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-04-03 -24.0 0.8333333333333334 Benign 1 -256473 Simple 141881325 C . Benign/Likely benign 2 2 not specified;RYR1-Related Disorders 2017-08-17 -9.0 0.5 Benign/Likely benign 0 -256474 Simple 532101469 T . Likely benign 2 4 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256479 Simple 149381996 A . Benign/Likely benign 2 3 not specified;RYR1-Related Disorders 2016-11-01 -12.0 1.0 Benign/Likely benign 0 -256483 Simple 201498416 A . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-07-13 -20.7 1.0 Benign/Likely benign 0 -256490 Simple 35719391 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-04-03 -27.0 0.8571428571428571 Benign 1 -256494 Simple 139069946 C . Likely benign 2 1 not specified;RYR1-Related Disorders 2017-08-08 . 0.0 . 0 -256495 Simple 200161205 T . Likely benign 2 4 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256500 Simple 200451188 A . Benign/Likely benign 2 8 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-15 -32.4 0.875 Benign 1 -256504 Simple 193169917 G . Likely benign 2 1 not specified 2017-08-29 . 0.0 . 0 -256518 Simple 374222028 A . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-07-14 -21.0 0.8333333333333334 Benign/Likely benign 0 -256521 Simple 377100871 G . Likely benign 2 2 not specified;RYR1-Related Disorders 2017-08-08 -6.0 0.5 Likely benign 0 -256524 Simple 141107290 T . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-08 -21.0 0.6666666666666666 Benign/Likely benign 0 -256525 Simple 34169029 G . Benign/Likely benign 2 2 not specified;RYR1-Related Disorders 2017-08-21 -9.0 0.5 Benign/Likely benign 0 -256528 Simple 61750975 T . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-08-17 -29.4 1.0 Benign 1 -256530 Simple 78851466 G . Benign/Likely benign 2 4 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -256537 Simple 141646642 T . Benign/Likely benign 2 1 not specified;RYR1-Related Disorders 2017-06-27 . 0.0 . 0 -256538 Simple 374630822 T . Likely benign 2 1 not specified;RYR1-Related Disorders 2017-07-14 . 0.0 . 0 -256540 Simple 78915828 A . Benign/Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-03-07 -18.0 0.8 Benign/Likely benign 0 -256544 Simple 886038338 T . Likely benign 2 1 not specified 2016-08-25 . 1.0 . 0 -256553 Simple 1465698 G . Benign 2 1 not specified;RYR1-Related Disorders 2016-10-18 . 1.0 . 0 -256554 Simple 146159174 A . Benign/Likely benign 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-09-12 -27.0 0.7142857142857143 Benign 1 -256558 Simple 142720065 C . Benign/Likely benign 2 1 not specified 2017-09-12 . 0.0 . 0 -256559 Simple 201378267 T . Likely benign 2 1 not specified 2017-01-18 . 1.0 . 0 -256564 Simple 147587000 A . Benign/Likely benign 2 1 not specified;RYR1-Related Disorders 2017-06-06 . 0.0 . 0 -256565 Simple 145446438 T . Likely benign 2 1 not specified;RYR1-Related Disorders 2017-03-06 . 0.0 . 0 -256574 Simple 77216903 T . Benign/Likely benign 2 2 not specified;RYR1-Related Disorders 2017-08-21 -9.0 0.5 Benign/Likely benign 0 -256582 Simple 748400885 T . Likely benign 2 1 not specified;RYR1-Related Disorders 2017-08-08 . 0.0 . 0 -256585 Simple 149569999 A . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2016-10-26 -20.7 1.1666666666666667 Benign/Likely benign 0 -256586 Simple 537751969 - . Likely benign 2 4 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256587 Simple 75991872 T . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-06-06 -24.0 0.8333333333333334 Benign 1 -256592 Simple 3838786 - . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -256594 Simple 118028009 A . Benign/Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -256595 Simple 145589373 A . Benign/Likely benign 2 2 not specified 2016-08-09 -6.0 1.0 Likely benign 1 -256599 Simple 886038348 GAGCCGAGCC . Benign 2 1 not specified 2017-08-02 . 0.0 . 0 -256603 Simple 1625895 C . Benign 2 1 not specified 2016-09-01 . 1.0 . 0 -256604 Simple 17883323 T . Benign 2 1 not specified 2016-09-16 . 1.0 . 0 -256605 Simple 2280132 T . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -256606 Simple 2175977 C . Benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -256607 Simple 9678281 G . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -256608 Simple 1126797 T . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -256610 Simple 732608 T . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -256611 Simple 732609 C . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -256614 Simple 1126799 C . Benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -256616 Simple 4927611 T . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -256618 Simple 535984356 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -256624 Simple 886038353 T . Likely benign 2 1 not specified 2016-02-12 . 2.0 . 0 -256625 Simple 369385105 G . Likely benign 2 1 Tuberous sclerosis 2;not specified 2017-07-27 . 0.0 . 0 -256631 Simple 182327684 T . Benign/Likely benign 2 4 Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -17.7 1.0 Benign/Likely benign 0 -256632 Simple 886038357 A . Likely benign 2 1 Tuberous sclerosis 2;not specified 2017-07-09 . 0.0 . 0 -256633 Simple 778378296 T . Likely benign 2 2 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2016-07-14 -5.7 1.5 Likely benign 0 -256637 Simple 570051626 T . Benign/Likely benign 2 1 Tuberous sclerosis 2;not specified 2017-07-27 . 0.0 . 0 -256639 Simple 763948768 A . Likely benign 2 2 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-05 -6.0 0.5 Likely benign 0 -256640 Simple 10776792 G . Benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -256644 Simple 34509359 A . Benign/Likely benign 2 1 not specified;Oculocutaneous albinism 2016-06-14 . 1.0 . 0 -256647 Simple 35866166 C . Benign/Likely benign 2 1 not specified;Oculocutaneous albinism 2016-06-14 . 1.0 . 0 -256649 Simple 3087462 T . Benign/Likely benign 2 1 Von Hippel-Lindau syndrome;not specified 2016-06-14 . 1.0 . 0 -256650 Simple 1800375 A . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-07 -9.0 1.0 Benign/Likely benign 0 -256651 Simple 1800376 G . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-07 -9.0 1.0 Benign/Likely benign 0 -256652 Simple 1800377 T . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-07 -9.0 1.0 Benign/Likely benign 0 -256653 Simple 66722092 G . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256654 Simple 1800378 C . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256655 Simple 1800379 G . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-10 -9.0 1.0 Benign/Likely benign 0 -256656 Simple 35365059 T . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256657 Simple 10622633 AGAAGA . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256659 Simple 1063856 C . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-04 -9.0 1.0 Benign/Likely benign 0 -256660 Simple 1063857 G . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-04 -9.0 1.0 Benign/Likely benign 0 -256661 Simple 216325 A . Benign 2 1 not specified 2016-11-04 . 1.0 . 0 -256662 Simple 73051263 A . Benign 2 1 not specified 2016-11-04 . 1.0 . 0 -256663 Simple 4021576 G . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-04 -9.0 1.0 Benign/Likely benign 0 -256664 Simple 112634786 A . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-04 -9.0 1.0 Benign/Likely benign 0 -256665 Simple 2885752 T . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256666 Simple 113446850 G . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-04 -9.0 1.0 Benign/Likely benign 0 -256667 Simple 560397436 A . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256668 Simple 535693463 G . Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256669 Simple 566672558 A . Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256670 Simple 546732699 C . Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256671 Simple 148995386 T . Benign 2 1 not specified 2016-11-04 . 1.0 . 0 -256673 Simple 16933969 G . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-04 -9.0 1.0 Benign/Likely benign 0 -256675 Simple 2228319 T . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-07 -9.0 1.0 Benign/Likely benign 0 -256676 Simple 2229444 A . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256678 Simple 216311 C . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-10-13 -9.0 1.0 Benign/Likely benign 0 -256679 Simple 1800383 G . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-11-07 -9.0 1.0 Benign/Likely benign 0 -256680 Simple 216310 G . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-10-13 -9.0 1.0 Benign/Likely benign 0 -256681 Simple 1800384 G . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-10-13 -9.0 1.0 Benign/Likely benign 0 -256682 Simple 1800385 A . Benign/Likely benign 2 2 von Willebrand disorder;not specified 2016-10-13 -9.0 1.0 Benign/Likely benign 0 -256687 Simple 56981471 A . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256688 Simple 216902 A . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256690 Simple 11537642 T . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256691 Simple 7980045 G . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256692 Simple 7315124 A . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256693 Simple 177702 A . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256694 Simple 1053523 C . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256695 Simple 216868 A . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256696 Simple 216867 G . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256698 Simple 35335161 T . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256699 Simple 11063962 A . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256702 Simple 7962217 T . Benign/Likely benign 2 1 von Willebrand disorder;not specified 2016-06-14 . 1.0 . 0 -256705 Simple 55907031 A . Benign 2 1 not specified 2016-11-04 . 1.0 . 0 -256707 Simple 397723919 - . Benign 2 1 Werner syndrome;not specified 2016-06-14 . 1.0 . 0 -256712 Simple 143384 G . Benign 2 5 Symphalangism-brachydactyly syndrome;Fibular hypoplasia and complex brachydactyly;Brachydactyly;Chondrodysplasia;not specified;Acromesomelic Dysplasia 2016-06-14 -30.0 1.0 Benign 0 -256713 Simple 224330 T . Benign 2 5 Symphalangism-brachydactyly syndrome;Fibular hypoplasia and complex brachydactyly;Brachydactyly;Chondrodysplasia;not specified;Acromesomelic Dysplasia 2016-06-14 -30.0 1.0 Benign 0 -256716 Simple 224331 C . Benign 2 5 Symphalangism-brachydactyly syndrome;Fibular hypoplasia and complex brachydactyly;Brachydactyly;Chondrodysplasia;not specified;Acromesomelic Dysplasia 2016-06-14 -30.0 1.0 Benign 0 -256718 Simple 35278779 G . Benign/Likely benign 2 3 Glycogen storage disease type III;not specified 2017-07-21 -17.4 1.0 Benign/Likely benign 0 -256719 Simple 28730701 T . Benign/Likely benign 2 3 Glycogen storage disease type III;not specified 2017-08-05 -14.4 1.0 Benign/Likely benign 0 -256720 Simple 17121466 C . Benign/Likely benign 2 2 Glycogen storage disease type III;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -256721 Simple 149771710 T . Benign/Likely benign 2 2 Glycogen storage disease type III;not specified 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -256723 Simple 141043166 A . Benign/Likely benign 2 6 Glycogen storage disease type III;not specified;not provided 2017-08-29 -27.0 0.6666666666666666 Benign 1 -256725 Simple 3736296 C . Benign 2 2 Glycogen storage disease type III;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -256726 Simple 2230305 C . Benign/Likely benign 2 3 Glycogen storage disease type III;not specified 2017-08-05 -14.4 1.0 Benign/Likely benign 0 -256728 Simple 74551473 C . Benign/Likely benign 2 2 Glycogen storage disease type III;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -256729 Simple 34230588 C . Benign 2 1 Glycogen storage disease type III;not specified 2017-07-19 . 0.0 . 0 -256730 Simple 555929 A . Benign 2 3 Glycogen storage disease type III;not specified 2017-08-01 -17.4 1.0 Benign/Likely benign 1 -256731 Simple 113625417 G . Benign/Likely benign 2 3 Glycogen storage disease type III;not specified 2017-07-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -256732 Simple 34714252 G . Benign 2 2 Glycogen storage disease type III;not specified 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -256734 Simple 3753494 T . Benign/Likely benign 2 2 Glycogen storage disease type III;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -256736 Simple 140333425 A . Benign 2 1 not specified 2016-02-10 . 2.0 . 0 -256737 Simple 17121560 C . Benign/Likely benign 2 1 not specified 2017-03-06 . 0.0 . 0 -256738 Simple 2230307 A . Benign/Likely benign 2 2 Glycogen storage disease type III;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -256739 Simple 149393587 A . Benign/Likely benign 2 3 Glycogen storage disease type III;not specified 2017-07-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -256741 Simple 11807956 A . Benign 2 2 Glycogen storage disease type III;not specified 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -256743 Simple 12043139 A . Benign/Likely benign 2 4 Glycogen storage disease type III;not specified 2017-08-01 -18.0 0.5 Benign/Likely benign 0 -256745 Simple 28730706 C . Benign/Likely benign 2 3 Glycogen storage disease type III;not specified 2017-08-05 -14.4 1.0 Benign/Likely benign 0 -256749 Simple 17121403 G . Benign/Likely benign 2 4 Glycogen storage disease type III;not specified 2017-08-08 -20.4 0.75 Benign/Likely benign 0 -256750 Simple 2307129 T . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -256751 Simple 634880 A . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -256758 Simple 5183 G . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256759 Simple 5182 T . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256763 Simple 17846713 G . Benign/Likely benign 2 2 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-06-14 -6.0 1.0 Likely benign 1 -256764 Simple 41288127 T . Benign/Likely benign 2 2 Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood 2016-06-14 -6.0 1.0 Likely benign 1 -256767 Simple 1229502 A . Benign 2 2 not specified;Cardiovascular phenotype 2016-09-28 -11.4 1.5 Benign/Likely benign 1 -256768 Simple 138577227 G . Likely benign 2 1 not specified 2016-11-28 . 1.0 . 0 -256769 Simple 2229952 T . Benign 2 4 Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-04 -23.4 0.75 Benign/Likely benign 1 -256773 Simple 2302763 C . Benign 2 1 not specified 2016-02-19 . 2.0 . 0 -256777 Simple 138041351 C . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 2a, slow-channel 2017-07-10 . 0.0 . 0 -256778 Simple 149921259 T . Benign/Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-05-12 -9.0 0.5 Benign/Likely benign 0 -256787 Simple 3917974 C . Benign 2 1 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-08-04 . 0.0 . 0 -256788 Simple 3917954 T . Benign 2 1 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-08-07 . 0.0 . 0 -256789 Simple 3917980 G . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -256790 Simple 3917981 G . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -256791 Simple 3917988 T . Benign/Likely benign 2 1 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-06-29 . 0.0 . 0 -256792 Simple 3917991 G . Benign 2 1 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-08-07 . 0.0 . 0 -256793 Simple 3917996 G . Benign 2 1 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-08-11 . 0.0 . 0 -256794 Simple 3917973 G . Benign 2 1 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-08-04 . 0.0 . 0 -256795 Simple 3918017 A . Benign 2 1 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-07-31 . 0.0 . 0 -256796 Simple 3918018 T . Benign 2 1 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-07-31 . 0.0 . 0 -256799 Simple 4309 T . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256800 Simple 4331 G . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256801 Simple 4342 C . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256803 Simple 4343 A . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256804 Simple 4362 C . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256805 Simple 12720744 T . Benign/Likely benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256806 Simple 4363 A . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256808 Simple 4364 A . Benign/Likely benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256809 Simple 4298 T . Benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256810 Simple 4300 T . Benign/Likely benign 2 1 Renal dysplasia;not specified 2016-06-14 . 1.0 . 0 -256813 Simple 1801028 C . Benign 2 2 not specified;Dystonia 2017-07-15 -11.4 1.0 Benign/Likely benign 1 -256817 Simple 74907974 A . Benign 2 2 Epilepsy, childhood absence 1;Epilepsy, childhood absence 5;not specified 2017-08-01 -11.4 1.0 Benign/Likely benign 1 -256818 Simple 3751582 C . Benign 2 2 not specified 2016-05-31 -11.4 1.5 Benign/Likely benign 1 -256819 Simple 8179186 A . Benign 2 1 not specified 2016-01-08 . 2.0 . 0 -256820 Simple 75965657 A . Benign 2 2 Epilepsy, childhood absence 1;Epilepsy, childhood absence 5;not specified 2017-07-11 -11.4 1.0 Benign/Likely benign 1 -256821 Simple 76812964 T . Benign 2 2 Epilepsy, childhood absence 1;Epilepsy, childhood absence 5;not specified 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -256827 Simple 2070951 C . Benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -256828 Simple 5525 G . Benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -256829 Simple 144234574 T . Benign/Likely benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -256832 Simple 5522 T . Benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -256838 Simple 2286822 T . Benign/Likely benign 2 1 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;not specified 2016-06-14 . 1.0 . 0 -256840 Simple 1057868 T . Benign/Likely benign 2 1 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;not specified 2016-06-14 . 1.0 . 0 -256841 Simple 1057870 A . Benign/Likely benign 2 2 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;not specified 2016-11-10 -9.0 1.0 Benign/Likely benign 0 -256842 Simple 1135612 G . Benign/Likely benign 2 1 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;not specified 2016-06-14 . 1.0 . 0 -256847 Simple 112296824 A . Likely benign 2 1 Klippel Feil syndrome;not specified 2016-06-14 . 1.0 . 0 -256851 Simple 148861809 G . Benign/Likely benign 2 2 Klippel-Feil syndrome 1, autosomal dominant;Klippel Feil syndrome;Microphthalmia, isolated 4;Microphthalmia, isolated, with coloboma 6;not specified;Leber congenital amaurosis 17 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -256852 Simple 11567941 A . Benign/Likely benign 2 1 Barakat syndrome;not specified 2016-06-14 . 1.0 . 0 -256853 Simple 2228254 C . Benign 2 1 Barakat syndrome;not specified 2016-06-14 . 1.0 . 0 -256854 Simple 2229359 T . Benign 2 1 Barakat syndrome;not specified 2016-06-14 . 1.0 . 0 -256855 Simple 138310419 A . Benign/Likely benign 2 2 Lethal arthrogryposis with anterior horn cell disease;not specified;Lethal Congenital Contracture Syndrome 2016-06-14 -6.0 1.0 Likely benign 1 -256861 Simple 2268147 T . Benign 2 1 Ectodermal dysplasia skin fragility syndrome;not specified 2016-06-14 . 1.0 . 0 -256862 Simple 1722779 T . Benign/Likely benign 2 1 Ectodermal dysplasia skin fragility syndrome;not specified 2016-06-14 . 1.0 . 0 -256864 Simple 114713494 G . Benign/Likely benign 2 1 not specified 2017-08-17 . 0.0 . 0 -256867 Simple 143084059 G . Benign/Likely benign 2 6 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;not provided;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-28 -26.4 1.0 Benign 1 -256869 Simple 77702567 C . Benign/Likely benign 2 5 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-28 -23.4 1.0 Benign/Likely benign 0 -256870 Simple 144790170 A . Likely benign 2 4 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-02-18 -12.0 1.0 Benign/Likely benign 1 -256877 Simple 6741091 C . Benign 2 2 Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -256881 Simple 113811959 G . Likely benign 2 3 Primary open angle glaucoma;not specified;Amyotrophic Lateral Sclerosis, Recessive 2016-08-12 -9.0 1.0 Benign/Likely benign 1 -256882 Simple 11258210 A . Benign 2 1 Primary open angle glaucoma;not specified 2016-06-14 . 1.0 . 0 -256883 Simple 11258211 A . Benign 2 1 Primary open angle glaucoma;Amyotrophic lateral sclerosis type 12;Glaucoma 1, open angle, e;not specified 2017-07-20 . 0.0 . 0 -256884 Simple 77566834 T . Benign 2 1 not specified 2016-07-21 . 1.0 . 0 -256886 Simple 61747420 G . Benign 2 2 not specified 2016-10-27 -12.0 1.0 Benign/Likely benign 1 -256887 Simple 11643513 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-02 -17.4 1.0 Benign/Likely benign 1 -256888 Simple 140189010 T . Likely benign 2 1 not specified;not provided 2016-12-05 . 1.0 . 0 -256889 Simple 7194935 A . Benign 2 1 not specified 2016-09-19 . 1.0 . 0 -256891 Simple 45478794 A . Benign 2 2 not specified 2016-04-27 -11.4 1.5 Benign/Likely benign 1 -256892 Simple 141946034 C . Likely benign 2 0 not specified . . . . 0 -256893 Simple 34197769 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-15 -17.4 1.0 Benign/Likely benign 1 -256894 Simple 116114803 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-15 -18.0 0.6666666666666666 Benign/Likely benign 1 -256895 Simple 560049593 T . Benign/Likely benign 2 3 not specified 2017-06-20 -12.0 0.6666666666666666 Benign/Likely benign 0 -256896 Simple 7192711 A . Benign 2 1 not specified 2016-09-19 . 1.0 . 0 -256898 Simple 142616270 T . Benign 2 2 not specified 2016-07-26 -11.4 1.5 Benign/Likely benign 1 -256901 Simple 145955373 A . Benign 2 1 Polycystic kidney disease, adult type;not specified 2017-05-30 . 0.0 . 0 -256902 Simple 113369380 A . Benign 2 1 not specified 2017-01-09 . 1.0 . 0 -256903 Simple 201204878 CCCCCC . Benign/Likely benign 2 1 not specified 2016-03-22 . 1.0 . 0 -256908 Simple 567482892 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-30 -18.0 0.6666666666666666 Benign/Likely benign 1 -256909 Simple 77634115 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-30 -18.0 0.6666666666666666 Benign/Likely benign 1 -256910 Simple 202207855 A . Benign 2 1 not specified 2016-11-01 . 1.0 . 0 -256911 Simple 116236042 A . Benign 2 2 Polycystic kidney disease, adult type;not specified 2017-05-02 -12.0 0.5 Benign/Likely benign 1 -256913 Simple 10960 C . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-02 -17.4 1.0 Benign/Likely benign 1 -256915 Simple 3209986 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-25 -17.4 1.0 Benign/Likely benign 1 -256917 Simple 3087632 C . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-25 -17.4 1.0 Benign/Likely benign 1 -256918 Simple 79899502 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-25 -17.4 1.0 Benign/Likely benign 1 -256919 Simple 148478410 T . Benign/Likely benign 2 1 Polycystic kidney disease, adult type;not specified 2017-05-23 . 0.0 . 0 -256921 Simple 7203729 G . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-23 -17.4 1.0 Benign/Likely benign 1 -256925 Simple 550769703 A . Benign 2 1 not specified 2016-03-05 . 1.0 . 0 -256926 Simple 367983387 A . Benign/Likely benign 2 2 Polycystic kidney disease, adult type;not specified 2017-05-23 -12.0 0.0 Benign/Likely benign 0 -256927 Simple 149022148 A . Benign/Likely benign 2 2 Polycystic kidney disease, adult type;not specified 2017-05-23 -12.0 0.5 Benign/Likely benign 0 -256929 Simple 35929659 C . Benign 2 2 not specified 2016-04-26 -11.4 1.5 Benign/Likely benign 1 -256931 Simple 543166733 C . Benign 2 2 not specified 2016-07-15 -11.4 1.5 Benign/Likely benign 1 -256932 Simple 533569454 C . Benign/Likely benign 2 2 not specified 2016-08-08 -9.0 1.0 Benign/Likely benign 0 -256934 Simple 142606648 A . Benign/Likely benign 2 1 not specified 2016-11-02 . 1.0 . 0 -256935 Simple 142357713 G . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-06-09 -18.0 0.6666666666666666 Benign/Likely benign 1 -256936 Simple 35667726 T . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-06-09 -17.4 1.0 Benign/Likely benign 1 -256937 Simple 35965348 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-06-09 -17.4 1.0 Benign/Likely benign 1 -256938 Simple 114846412 A . Benign 2 1 not specified 2016-07-15 . 1.0 . 0 -256939 Simple 2855349 A . Benign 2 2 not specified 2016-04-26 -12.0 1.0 Benign/Likely benign 1 -256940 Simple 143013095 G . Likely benign 2 1 not specified 2016-10-03 . 1.0 . 0 -256942 Simple 2369068 G . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-06-05 -17.4 1.0 Benign/Likely benign 1 -256944 Simple 2099534 C . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-06-05 -17.4 1.0 Benign/Likely benign 1 -256945 Simple 148727945 T . Likely benign 2 1 not specified 2016-04-29 . 1.0 . 0 -256947 Simple 2549677 G . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-06-05 -17.4 1.0 Benign/Likely benign 1 -256949 Simple 75510884 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-06-02 -17.4 1.0 Benign/Likely benign 1 -256950 Simple 74331768 A . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-06-02 -17.4 1.0 Benign/Likely benign 1 -256953 Simple 146887330 A . Benign/Likely benign 2 3 Polycystic kidney disease, adult type;not specified 2017-05-31 -18.0 0.6666666666666666 Benign/Likely benign 0 -256960 Simple 143690392 A . Likely benign 2 1 not specified 2016-09-24 . 1.0 . 0 -256961 Simple 145737766 A . Benign 2 1 not specified 2016-09-02 . 1.0 . 0 -256962 Simple 116092985 G . Benign 2 2 not specified 2016-03-24 -11.4 1.5 Benign/Likely benign 1 -256964 Simple 140980374 T . Benign/Likely benign 2 2 not specified 2017-01-05 -12.0 1.0 Benign/Likely benign 0 -256965 Simple 78509585 A . Benign 1 0 not specified . . . . 0 -256967 Simple 148164067 T . Benign/Likely benign 2 2 not specified 2016-06-01 -12.0 1.0 Benign/Likely benign 0 -256968 Simple 71385734 G . Benign 2 2 not specified 2016-04-26 -11.4 1.5 Benign/Likely benign 1 -256969 Simple 79884128 T . Benign 2 3 not specified 2017-07-20 -18.0 0.6666666666666666 Benign/Likely benign 1 -256971 Simple 148852027 A . Likely benign 2 1 not specified 2016-12-07 . 1.0 . 0 -256972 Simple 139520275 A . Benign/Likely benign 2 1 not specified 2016-10-27 . 1.0 . 0 -256974 Simple 9935526 A . Benign 2 2 not specified 2016-04-26 -11.4 1.5 Benign/Likely benign 1 -256978 Simple 143916489 T . Benign 2 1 not specified 2016-07-15 . 1.0 . 0 -256979 Simple 144137200 T . Benign/Likely benign 2 1 not specified 2016-02-03 . 2.0 . 0 -256980 Simple 144634185 A . Benign/Likely benign 2 1 not specified 2016-12-06 . 1.0 . 0 -256981 Simple 2575313 T . Benign 2 2 not specified 2016-04-26 -11.4 1.5 Benign/Likely benign 1 -256983 Simple 80111665 A . Benign/Likely benign 2 1 not specified 2017-03-25 . 0.0 . 0 -256985 Simple 776302294 A . Benign/Likely benign 2 2 not specified 2017-03-13 -9.0 0.5 Benign/Likely benign 0 -256986 Simple 147253810 A . Benign/Likely benign 2 1 not specified 2016-08-08 . 1.0 . 0 -256990 Simple 140869992 A . Likely benign 2 3 not specified 2016-09-26 -8.7 1.3333333333333333 Benign/Likely benign 1 -256994 Simple 189277711 A . Benign 2 2 not specified 2016-10-21 -12.0 1.0 Benign/Likely benign 1 -256996 Simple 4018162 G . Benign 2 2 not specified 2016-10-26 -11.4 1.5 Benign/Likely benign 1 -256997 Simple 2457533 G . Benign 2 2 not specified 2016-04-26 -11.4 1.5 Benign/Likely benign 1 -257001 Simple 2003782 A . Benign 2 2 not specified 2016-04-26 -11.4 1.5 Benign/Likely benign 1 -257002 Simple 28369051 G . Benign/Likely benign 2 1 not specified 2016-12-05 . 1.0 . 0 -257004 Simple 28575767 G . Benign 2 2 not specified 2016-04-26 -11.4 1.5 Benign/Likely benign 1 -257007 Simple 115024665 G . Benign/Likely benign 2 0 not specified . . . . 0 -257008 Simple 9936785 C . Benign 2 2 not specified 2016-05-03 -11.4 1.5 Benign/Likely benign 1 -257009 Simple 144557371 A . Benign/Likely benign 2 2 not specified 2016-07-26 -8.4 1.5 Benign/Likely benign 0 -257011 Simple 147350387 A . Benign/Likely benign 2 1 not specified 2017-01-30 . 1.0 . 0 -257012 Simple 375283810 A . Likely benign 2 1 not specified 2016-07-21 . 1.0 . 0 -257014 Simple 199569003 T . Benign/Likely benign 2 2 not specified 2016-09-12 -12.0 1.0 Benign/Likely benign 0 -257015 Simple 28674911 T . Benign 2 0 not specified . . . . 0 -257017 Simple 145850037 A . Benign/Likely benign 2 0 not specified . . . . 0 -257018 Simple 145176597 T . Benign/Likely benign 2 1 not specified 2017-03-13 . 0.0 . 0 -257019 Simple 372124319 T . Benign/Likely benign 2 2 not specified 2016-08-11 -12.0 1.0 Benign/Likely benign 0 -257020 Simple 117856830 A . Benign 2 1 not specified 2016-09-26 . 1.0 . 0 -257021 Simple 149151043 T . Benign/Likely benign 2 1 not specified 2016-02-19 . 2.0 . 0 -257025 Simple 13333553 T . Benign 2 1 not specified 2016-02-02 . 2.0 . 0 -257026 Simple 114143642 C . Benign 2 1 not specified 2016-10-26 . 1.0 . 0 -257028 Simple 147788838 T . Likely benign 2 1 not specified 2016-10-05 . 1.0 . 0 -257030 Simple 13337123 G . Benign 2 1 not specified 2016-02-02 . 2.0 . 0 -257031 Simple 9926309 G . Benign 2 1 not specified 2016-07-15 . 1.0 . 0 -257032 Simple 147923678 A . Benign 2 2 not specified 2016-09-24 -12.0 1.0 Benign/Likely benign 1 -257034 Simple 9928278 C . Benign 2 1 not specified 2016-02-02 . 2.0 . 0 -257036 Simple 76184385 T . Benign 2 2 not specified 2017-03-15 -12.0 0.5 Benign/Likely benign 1 -257038 Simple 372874584 GG . Benign 2 1 not specified 2016-03-22 . 1.0 . 0 -257039 Simple 9935834 G . Benign 2 1 not specified 2016-02-02 . 2.0 . 0 -257040 Simple 9925969 G . Benign 2 1 not specified 2016-02-02 . 2.0 . 0 -257041 Simple 149056734 A . Benign/Likely benign 2 1 not specified 2016-10-17 . 1.0 . 0 -257042 Simple 12926160 G . Benign 2 3 Polycystic kidney disease, adult type;not specified 2017-04-11 -17.4 1.0 Benign/Likely benign 1 -257043 Simple 11248911 G . Benign 2 2 not specified 2016-04-26 -11.4 1.5 Benign/Likely benign 1 -257044 Simple 144817614 T . Benign 2 2 not specified 2017-01-09 -12.0 1.0 Benign/Likely benign 1 -257047 Simple 141101590 A . Benign/Likely benign 2 2 not specified 2016-12-29 -9.0 1.0 Benign/Likely benign 0 -257054 Simple 112031297 A . Benign/Likely benign 2 1 Roberts-SC phocomelia syndrome;not specified 2016-06-14 . 1.0 . 0 -257056 Simple 17074773 A . Benign 2 1 Frank Ter Haar syndrome;not specified 2016-06-14 . 1.0 . 0 -257057 Simple 111572530 T . Benign/Likely benign 2 2 Frank Ter Haar syndrome;not specified;not provided 2017-04-19 -6.0 0.5 Likely benign 1 -257058 Simple 2569232 G . Benign 2 1 Frank Ter Haar syndrome;not specified 2016-06-14 . 1.0 . 0 -257061 Simple 6169 T . Benign/Likely benign 2 1 not specified;isolated follicle-stimulating hormone deficiency 2016-06-14 . 1.0 . 0 -257062 Simple 41309679 T . Benign 2 3 Fanconi anemia;VACTERL association with hydrocephalus;not specified;Fanconi Anemia, X-Linked 2017-01-25 -18.0 1.0 Benign/Likely benign 1 -257065 Simple 34046352 G . Benign 2 2 Fanconi anemia;not specified 2016-10-10 -12.0 1.0 Benign/Likely benign 1 -257070 Simple 6785756 T . Benign 2 1 Fanconi anemia;not specified 2017-08-03 . 0.0 . 0 -257072 Simple 9809716 C . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-06-05 -15.0 0.3333333333333333 Benign/Likely benign 0 -257075 Simple 35594075 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-06-05 -15.0 0.3333333333333333 Benign/Likely benign 0 -257079 Simple 9811771 G . Benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -257081 Simple 2272125 G . Benign 2 2 Fanconi anemia;not specified 2016-10-07 -12.0 1.0 Benign/Likely benign 1 -257085 Simple 9833228 C . Benign/Likely benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -257090 Simple 17849995 T . Benign 2 1 Renal dysplasia and retinal aplasia;not specified 2016-06-14 . 1.0 . 0 -257093 Simple 80015876 G . Benign 2 1 Nephronophthisis;not specified 2017-07-28 . 0.0 . 0 -257095 Simple 11498192 . . Benign/Likely benign 2 1 not specified 2015-07-13 . 2.0 . 0 -257097 Simple 229586 T . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257098 Simple 229587 T . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257099 Simple 2277503 A . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257100 Simple 3742601 A . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257101 Simple 3742602 T . Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 0 -257102 Simple 229591 G . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257103 Simple 12433436 A . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257106 Simple 229581 G . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257108 Simple 77806 C . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257110 Simple 78707026 G . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257111 Simple 11623956 A . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257112 Simple 10132778 C . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257115 Simple 17245552 G . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257116 Simple 229639 A . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257117 Simple 1626923 C . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257118 Simple 1741487 G . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-17 -12.0 0.6666666666666666 Benign/Likely benign 0 -257119 Simple 1741488 T . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-17 -12.0 0.6666666666666666 Benign/Likely benign 0 -257120 Simple 1741489 G . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257123 Simple 184528 T . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -257125 Simple 4902311 A . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257126 Simple 4902310 C . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257127 Simple 4899145 A . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257128 Simple 229592 G . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -257129 Simple 17180252 A . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257130 Simple 7142689 A . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257132 Simple 56181906 A . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257134 Simple 11622977 A . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257136 Simple 17102119 G . Benign/Likely benign 2 2 not specified;Elliptocytosis;Spherocytosis, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -257138 Simple 230703 C . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -257149 Simple 12997453 G . Benign 2 1 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 . 1.0 . 0 -257150 Simple 61750041 G . Benign/Likely benign 2 1 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 . 1.0 . 0 -257151 Simple 12623687 C . Benign/Likely benign 2 1 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 . 1.0 . 0 -257152 Simple 2873624 G . Benign 2 2 Cystinosis;Nephropathic cystinosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257153 Simple 77453839 C . Benign/Likely benign 2 2 Cystinosis;Nephropathic cystinosis;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -257154 Simple 1800528 A . Benign/Likely benign 2 2 Cystinosis;Nephropathic cystinosis;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -257157 Simple 161400 T . Benign 2 2 Cystinosis;Nephropathic cystinosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257158 Simple 76153698 A . Benign/Likely benign 2 2 Cystinosis;Nephropathic cystinosis;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -257161 Simple 199505710 A . Benign/Likely benign 2 1 not specified;Myopathy, centronuclear, 4 2017-05-26 . 0.0 . 0 -257171 Simple 117536391 T . Benign/Likely benign 2 2 Glycogen phosphorylase kinase deficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -257175 Simple 16945474 G . Benign/Likely benign 2 3 Glycogen storage disease IXb;Glycogen phosphorylase kinase deficiency;not specified 2017-08-01 -14.4 1.0 Benign/Likely benign 0 -257176 Simple 886038380 - . Benign/Likely benign 2 1 Glycogen phosphorylase kinase deficiency;not specified 2016-06-14 . 1.0 . 0 -257178 Simple 17738933 C . Benign/Likely benign 2 2 Glycogen phosphorylase kinase deficiency;not specified 2016-07-27 -9.0 1.0 Benign/Likely benign 0 -257179 Simple 56268318 C . Benign 2 2 Glycogen phosphorylase kinase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -257180 Simple 12768894 C . Benign/Likely benign 2 2 Histiocytic medullary reticulosis;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -257181 Simple 35927251 A . Benign 2 2 Histiocytic medullary reticulosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257192 Simple 147619484 T . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -257193 Simple 5917557 T . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -257196 Simple 199663434 - . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -257216 Simple 540308433 C . Likely benign 2 1 not specified 2016-11-17 . 1.0 . 0 -257224 Simple 149021782 C . Benign 2 1 not specified 2016-06-22 . 1.0 . 0 -257225 Simple 3833924 GG . Benign 2 1 not specified 2016-05-05 . 1.0 . 0 -257227 Simple 45535043 A . Benign 2 1 Doyne honeycomb retinal dystrophy;not specified 2016-06-14 . 1.0 . 0 -257235 Simple 34695580 - . Benign 2 2 Multiple pterygium syndrome Escobar type;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257238 Simple 139599055 A . Likely benign 2 1 Jarcho-Levin syndrome;not specified 2016-06-14 . 1.0 . 0 -257239 Simple 28462216 A . Benign 2 1 Jarcho-Levin syndrome;not specified 2016-06-14 . 1.0 . 0 -257240 Simple 200336355 G . Likely benign 2 1 Jarcho-Levin syndrome;not specified 2016-06-14 . 1.0 . 0 -257241 Simple 75049807 A . Benign/Likely benign 2 2 Jarcho-Levin syndrome;not specified 2016-09-23 -9.0 1.0 Benign/Likely benign 0 -257242 Simple 749710849 . . Benign/Likely benign 2 1 not specified;not provided 2017-03-10 . 0.0 . 0 -257243 Simple 28546919 A . Benign/Likely benign 2 1 Jarcho-Levin syndrome;not specified 2016-06-14 . 1.0 . 0 -257247 Simple 71647807 T . Benign/Likely benign 2 1 Jarcho-Levin syndrome;not specified 2016-06-14 . 1.0 . 0 -257249 Simple 185706635 C . Likely benign 2 1 Jarcho-Levin syndrome;not specified 2016-06-14 . 1.0 . 0 -257251 Simple 175081 C . Benign/Likely benign 2 1 Lynch syndrome;not specified 2016-06-14 . 1.0 . 0 -257252 Simple 175080 A . Benign/Likely benign 2 1 Lynch syndrome;not specified 2016-06-14 . 1.0 . 0 -257253 Simple 13712 C . Benign/Likely benign 2 1 Lynch syndrome;not specified 2016-06-14 . 1.0 . 0 -257257 Simple 181744522 G . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-21 -8.7 1.0 Benign/Likely benign 0 -257259 Simple 769899465 A . Likely benign 2 1 Aortic aneurysm, familial thoracic 4;not specified 2016-10-17 . 1.0 . 0 -257260 Simple 189463893 A . Benign/Likely benign 2 1 not specified 2016-09-08 . 1.0 . 0 -257261 Simple 780145425 A . Likely benign 2 1 Aortic aneurysm, familial thoracic 4;not specified 2016-05-22 . 1.0 . 0 -257266 Simple 62444250 G . Benign 2 1 Spondylocostal dysostosis 3;not specified 2017-07-10 . 0.0 . 0 -257273 Simple 117802495 A . Benign/Likely benign 2 1 Diabetes mellitus, neonatal, with congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -257274 Simple 556823296 C . Likely benign 2 6 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified 2017-06-26 -18.0 0.6666666666666666 Benign/Likely benign 1 -257276 Simple 2905876 C . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -257278 Simple 2905880 C . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -257279 Simple 17885830 T . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -257282 Simple 17880825 C . Benign/Likely benign 2 2 not specified 2017-05-17 -9.0 0.5 Benign/Likely benign 0 -257284 Simple 9890283 C . Benign/Likely benign 2 1 not specified 2017-05-23 . 0.0 . 0 -257285 Simple 2066736 A . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -257286 Simple 9894862 G . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -257291 Simple 8072417 G . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -257292 Simple 16972128 C . Benign 2 1 not specified 2017-03-09 . 0.0 . 0 -257293 Simple 9894648 C . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -257294 Simple 2285894 A . Benign 2 3 not specified 2016-08-15 -17.4 1.3333333333333333 Benign/Likely benign 1 -257299 Simple 886038398 - . Benign/Likely benign 2 1 not specified 2017-01-10 . 1.0 . 0 -257300 Simple 7405740 G . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -257301 Simple 886038399 - . Benign/Likely benign 2 1 not specified 2016-06-23 . 1.0 . 0 -257302 Simple 886038400 - . Likely benign 2 1 not specified 2017-09-13 . 0.0 . 0 -257303 Simple 964288 A . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -257305 Simple 17887156 T . Benign 2 2 not specified 2016-08-15 -12.0 1.0 Benign/Likely benign 1 -257306 Simple 55747230 A . Benign 2 2 not specified 2016-08-15 -12.0 1.0 Benign/Likely benign 1 -257309 Simple 17881173 - . Benign 2 2 not specified 2016-12-07 -12.0 1.0 Benign/Likely benign 1 -257311 Simple 113186360 T . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -257315 Simple 77570029 G . Benign 2 1 not specified 2015-07-02 . 2.0 . 0 -257316 Simple 141817764 C . Benign/Likely benign 2 1 not specified 2015-07-02 . 2.0 . 0 -257324 Simple 796649357 - . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -257326 Simple 767455 C . Benign/Likely benign 2 3 not specified;Familial Periodic Fever 2016-07-13 -15.0 1.0 Benign/Likely benign 0 -257327 Simple 12426675 G . Benign/Likely benign 2 2 not specified;Familial Periodic Fever 2016-07-01 -9.0 1.0 Benign/Likely benign 0 -257328 Simple 2242407 C . Benign 2 1 not specified 2016-01-22 . 2.0 . 0 -257329 Simple 375353411 C . Benign/Likely benign 2 2 not specified;Joubert syndrome 20;Meckel syndrome, type 11 2017-06-21 -12.0 0.0 Benign/Likely benign 0 -257330 Simple 3743602 G . Benign 2 1 not specified 2016-01-22 . 2.0 . 0 -257331 Simple 2738801 T . Benign 2 1 not specified 2016-01-22 . 2.0 . 0 -257334 Simple 375259473 T . Likely benign 2 1 not specified 2017-07-06 . 0.0 . 0 -257341 Simple 116704917 T . Benign 2 1 not specified 2016-04-25 . 1.0 . 0 -257342 Simple 61855090 T . Benign 2 1 not specified 2016-01-14 . 2.0 . 0 -257343 Simple 73274785 C . Benign 2 1 not specified 2016-08-02 . 1.0 . 0 -257344 Simple 75569266 T . Benign 2 1 not specified 2015-12-24 . 2.0 . 0 -257345 Simple 10998205 T . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -257346 Simple 3758626 T . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -257382 Simple 1134634 C . Benign/Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -257401 Simple 115281140 T . Benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 2;not specified 2017-07-31 . 0.0 . 0 -257406 Simple 35329429 A . Benign/Likely benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 2;not specified 2017-07-12 . 0.0 . 0 -257408 Simple 885821 A . Benign/Likely benign 2 2 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -257409 Simple 885822 A . Benign 2 1 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 . 1.0 . 0 -257431 Simple 188233863 G . Likely benign 2 1 not specified 2017-01-11 . 1.0 . 0 -257432 Simple 150850549 G . Benign/Likely benign 2 1 not specified 2016-04-25 . 1.0 . 0 -257433 Simple 1105282 G . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257434 Simple 4704870 C . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257435 Simple 61743233 T . Benign/Likely benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257436 Simple 6860507 G . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257441 Simple 769473892 T . Likely benign 2 1 not specified 2017-01-16 . 1.0 . 0 -257445 Simple 76030344 T . Benign/Likely benign 2 5 Nemaline myopathy 3;Nemaline myopathy;Familial restrictive cardiomyopathy;not specified;Congenital fiber-type disproportion 2017-07-17 -21.0 0.8 Benign/Likely benign 0 -257447 Simple 199804338 A . Benign/Likely benign 2 2 Nemaline myopathy 3;not specified 2017-06-27 -9.0 0.0 Benign/Likely benign 0 -257449 Simple 147079462 T . Benign/Likely benign 2 2 not specified;Nemaline Myopathy, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -257450 Simple 199526404 G . Benign/Likely benign 2 4 Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant 2017-07-28 -21.0 0.5 Benign/Likely benign 0 -257451 Simple 116406369 G . Benign/Likely benign 2 3 Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant 2017-05-24 -15.0 0.6666666666666666 Benign/Likely benign 0 -257452 Simple 551460635 A . Likely benign 2 2 Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant 2016-11-30 -6.0 1.0 Likely benign 0 -257455 Simple 115182478 C . Benign/Likely benign 2 3 Nemaline myopathy 6;not specified 2017-08-21 -15.0 0.3333333333333333 Benign/Likely benign 0 -257459 Simple 138484272 A . Benign/Likely benign 2 3 Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -257460 Simple 16878689 C . Benign/Likely benign 2 1 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 . 1.0 . 0 -257464 Simple 2227861 A . Benign 2 1 Progressive myositis ossificans;not specified 2016-06-14 . 1.0 . 0 -257465 Simple 13406336 C . Benign/Likely benign 2 2 Progressive myositis ossificans;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -257466 Simple 1146031 T . Benign 2 1 Progressive myositis ossificans;not specified 2016-06-14 . 1.0 . 0 -257467 Simple 1046048 T . Benign 2 2 Heterotaxy syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257468 Simple 2070489 G . Benign 2 2 Heterotaxy syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257470 Simple 13097628 C . Benign 2 2 Heterotaxy syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257472 Simple 368719012 C . Benign 2 1 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-04-05 . 0.0 . 0 -257474 Simple 1127309 T . Benign 2 1 Symmetrical dyschromatosis of extremities;not specified 2016-06-14 . 1.0 . 0 -257475 Simple 9427094 T . Benign 2 1 Symmetrical dyschromatosis of extremities;not specified 2016-06-14 . 1.0 . 0 -257476 Simple 1802645 T . Benign 2 1 Symmetrical dyschromatosis of extremities;not specified 2016-06-14 . 1.0 . 0 -257477 Simple 62638747 A . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -257478 Simple 2305799 T . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -257479 Simple 2229531 T . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -257480 Simple 62020347 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-01-25 -15.0 1.0 Benign/Likely benign 0 -257481 Simple 9806604 T . Benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -257482 Simple 2283432 C . Benign 2 2 Fanconi anemia;not specified 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -257483 Simple 11857960 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-08-04 -15.0 0.6666666666666666 Benign/Likely benign 0 -257484 Simple 17803620 T . Benign 2 2 Fanconi anemia;not specified 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -257485 Simple 35875311 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-07 -9.0 1.0 Benign/Likely benign 0 -257487 Simple 2159081 C . Benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -257489 Simple 1138465 C . Benign/Likely benign 2 3 Fanconi anemia;not specified;POLG-Related Spectrum Disorders 2016-08-08 -15.0 1.0 Benign/Likely benign 0 -257493 Simple 79588315 G . Benign/Likely benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -257495 Simple 848291 G . Benign 2 2 Fanconi anemia;not specified 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -257497 Simple 72929434 A . Benign 2 2 Berardinelli-Seip congenital lipodystrophy;Neurologic Disorders/Seipinopathy;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257498 Simple 115116507 C . Benign 2 2 not specified;Monogenic diabetes 2017-07-19 -12.0 0.5 Benign/Likely benign 1 -257499 Simple 79586077 A . Benign 2 2 Berardinelli-Seip congenital lipodystrophy;Neurologic Disorders/Seipinopathy;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257501 Simple 17650901 G . Benign 2 1 not specified;MAPT-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -257504 Simple 1800547 G . Benign 2 2 not specified;MAPT-Related Spectrum Disorders 2016-06-14 -9.0 4.0 Benign/Likely benign 1 -257507 Simple 192536793 A . Benign/Likely benign 2 3 Episodic ataxia type 2;Familial hemiplegic migraine type 1;not specified;Epileptic encephalopathy, early infantile, 42 2017-06-15 -15.0 0.0 Benign/Likely benign 0 -257508 Simple 16009 G . Benign 2 1 not specified 2016-08-02 . 1.0 . 0 -257509 Simple 191026552 T . Likely benign 2 1 not specified 2017-08-09 . 0.0 . 0 -257510 Simple 16018 A . Benign 2 1 not specified 2016-01-07 . 2.0 . 0 -257511 Simple 16042 A . Benign 2 1 not specified 2016-01-07 . 2.0 . 0 -257512 Simple 147221323 T . Benign 2 1 not specified 2016-01-20 . 2.0 . 0 -257513 Simple 16059 A . Benign 2 1 not specified 2016-01-14 . 2.0 . 0 -257518 Simple 1572983 T . Benign 2 1 not specified;Hypercholanemia 2016-06-14 . 1.0 . 0 -257520 Simple 73449614 T . Benign/Likely benign 2 4 Inclusion body myopathy 2;Sialuria;not specified;not provided 2017-08-02 -21.0 0.75 Benign/Likely benign 0 -257525 Simple 374105190 C . Likely benign 2 1 not specified 2016-03-21 . 1.0 . 0 -257529 Simple 3219487 C . Benign 2 1 not specified 2016-09-16 . 1.0 . 0 -257530 Simple 74942410 T . Benign 2 1 not specified 2016-03-01 . 2.0 . 0 -257536 Simple 2228611 C . Benign 2 1 not specified;Dementia, Deafness, and Sensory Neuropathy 2016-06-14 . 1.0 . 0 -257537 Simple 721186 C . Benign 2 1 not specified;Dementia, Deafness, and Sensory Neuropathy 2016-06-14 . 1.0 . 0 -257538 Simple 2114724 C . Benign 2 1 not specified;Dementia, Deafness, and Sensory Neuropathy 2016-06-14 . 1.0 . 0 -257539 Simple 16999593 C . Benign 2 3 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-08-04 -17.4 1.0 Benign/Likely benign 1 -257541 Simple 142903301 A . Benign/Likely benign 2 2 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -257542 Simple 138998574 A . Likely benign 2 3 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-06-09 -9.0 0.3333333333333333 Benign/Likely benign 1 -257543 Simple 189898346 T . Likely benign 2 1 not specified;Dementia, Deafness, and Sensory Neuropathy 2016-06-14 . 1.0 . 0 -257551 Simple 112332762 A . Likely benign 2 1 not specified;Treacher Collins Syndrome, Dominant 2016-06-14 . 1.0 . 0 -257553 Simple 55980697 G . Benign/Likely benign 2 2 Treacher Collins syndrome 1;not specified;Treacher Collins Syndrome, Dominant 2017-06-14 -9.0 0.5 Benign/Likely benign 0 -257554 Simple 2304908 C . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257559 Simple 11701 G . Benign/Likely benign 2 1 not specified;Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 . 1.0 . 0 -257560 Simple 374415484 C . Likely benign 2 1 not specified 2016-09-29 . 1.0 . 0 -257562 Simple 34172218 T . Benign/Likely benign 2 3 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-08-17 -15.0 0.6666666666666666 Benign/Likely benign 0 -257563 Simple 1573858 C . Benign 2 2 Lymphedema, primary, with myelodysplasia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257564 Simple 148554346 A . Benign/Likely benign 2 1 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-08-07 . 0.0 . 0 -257565 Simple 199640729 A . Benign/Likely benign 2 2 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-08-07 -9.0 0.0 Benign/Likely benign 0 -257566 Simple 34870876 G . Benign/Likely benign 2 2 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-08-21 -9.0 0.5 Benign/Likely benign 0 -257567 Simple 113384352 C . Benign/Likely benign 2 1 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-08-07 . 0.0 . 0 -257569 Simple 12199580 A . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257570 Simple 12197079 T . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257571 Simple 4713956 C . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257572 Simple 2239795 T . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257573 Simple 2239796 T . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -257580 Simple 33966911 T . Benign/Likely benign 2 2 Long QT syndrome;not specified;Cardiovascular phenotype 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -257581 Simple 3796928 G . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-08-08 -14.4 1.0 Benign/Likely benign 0 -257582 Simple 3733615 G . Benign/Likely benign 2 2 Long QT syndrome;not specified;Cardiovascular phenotype 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -257583 Simple 10013743 G . Benign/Likely benign 2 2 Long QT syndrome;not specified;Cardiovascular phenotype 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -257586 Simple 142579425 T . Benign/Likely benign 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -257587 Simple 113904914 A . Likely benign 2 3 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-06-20 -8.7 0.6666666666666666 Benign/Likely benign 1 -257589 Simple 5956583 C . Benign 2 2 not specified;Lymphoproliferative syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -257597 Simple 147953784 T . Benign/Likely benign 2 2 not specified;not provided 2017-05-08 -9.0 0.5 Benign/Likely benign 0 -257604 Simple 150337940 T . Likely benign 2 1 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2017-05-04 . 0.0 . 0 -257605 Simple 2270916 C . Benign 2 1 not specified 2017-08-02 . 0.0 . 0 -257606 Simple 190731787 G . Benign/Likely benign 2 5 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-07-03 -18.0 0.8 Benign/Likely benign 0 -257609 Simple 200545177 A . Likely benign 2 1 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2017-07-06 . 0.0 . 0 -257610 Simple 79544459 C . Benign/Likely benign 2 1 Pyridoxine-dependent epilepsy;not specified 2016-06-14 . 1.0 . 0 -257611 Simple 17511214 A . Benign/Likely benign 2 2 Deficiency of 3-hydroxyacyl-CoA dehydrogenase;not specified;Hyperinsulinism, Dominant/Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -257613 Simple 886038419 AA . Benign 2 1 Cataract 33, multiple types;not specified 2017-05-02 . 0.0 . 0 -257623 Simple 577627288 CACA . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2016-07-31 -10.2 2.5 Benign/Likely benign 1 -257626 Simple 11291395 - . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -257627 Simple 61748646 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-27 . 0.0 . 0 -257629 Simple 3737094 G . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -257630 Simple 10484847 G . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -257633 Simple 1129352 C . Benign 2 1 not specified;Mosaic variegated aneuploidy syndrome 2017-06-28 . 0.0 . 0 -257634 Simple 11630664 T . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -257636 Simple 34999621 T . Benign 2 1 not specified;Mosaic variegated aneuploidy syndrome 2017-06-28 . 0.0 . 0 -257638 Simple 35611758 G . Benign 2 1 not specified;Mosaic variegated aneuploidy syndrome 2017-08-17 . 0.0 . 0 -257640 Simple 7168394 T . Benign 2 1 not specified;Mosaic variegated aneuploidy syndrome 2017-08-17 . 0.0 . 0 -257654 Simple 2076584 T . Benign 2 1 not specified 2016-09-29 . 1.0 . 0 -257655 Simple 3803981 A . Benign 2 1 not specified 2016-10-11 . 1.0 . 0 -257657 Simple 79070552 C . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-08-07 . 0.0 . 0 -257659 Simple 16989528 T . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-08-14 . 0.0 . 0 -257661 Simple 61731662 G . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-08-07 . 0.0 . 0 -257662 Simple 116263417 T . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-08-14 . 0.0 . 0 -257663 Simple 16989495 G . Benign 2 1 Epilepsy, familial focal, with variable foci 1;not specified 2017-08-14 . 0.0 . 0 -257667 Simple 113734896 - . Benign/Likely benign 2 2 not specified;Congenital Myasthenic Syndrome, Recessive 2017-11-01 -9.0 0.5 Benign/Likely benign 0 -257668 Simple 112682152 A . Benign/Likely benign 2 2 Congenital myasthenic syndrome 12;not specified;Congenital Myasthenic Syndrome, Recessive 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -257669 Simple 13063628 T . Benign 2 2 Thyroid Hormone Resistance;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -257670 Simple 13081063 G . Benign/Likely benign 2 1 Thyroid Hormone Resistance;not specified 2016-06-14 . 1.0 . 0 -257671 Simple 34383175 T . Benign 2 1 not specified 2015-12-31 . 2.0 . 0 -257672 Simple 74370046 T . Benign 2 2 not specified;Brown-Vialetto-Van Laere syndrome 2 2017-07-19 -12.0 0.5 Benign/Likely benign 1 -257676 Simple 2365725 C . Benign/Likely benign 2 6 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -24.0 1.0 Benign 1 -257679 Simple 890871 G . Benign/Likely benign 2 6 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -21.0 1.0 Benign/Likely benign 0 -257680 Simple 891187 T . Benign/Likely benign 2 6 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -24.0 1.0 Benign 1 -257682 Simple 60176657 A . Benign/Likely benign 2 6 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -21.0 1.0 Benign/Likely benign 0 -257684 Simple 28377509 C . Benign/Likely benign 2 6 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -24.0 1.0 Benign 1 -257685 Simple 111250144 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-03 . 0.0 . 0 -257686 Simple 10407660 C . Benign 2 1 not specified 2016-06-13 . 1.0 . 0 -257688 Simple 3848618 C . Benign/Likely benign 2 7 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -26.4 1.1428571428571428 Benign 1 -257689 Simple 56726774 C . Benign/Likely benign 2 7 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -27.0 1.0 Benign 1 -257690 Simple 376972065 A . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-06-19 . 0.0 . 0 -257691 Simple 58824375 T . Benign/Likely benign 2 7 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -27.0 1.0 Benign 1 -257694 Simple 7260320 G . Benign/Likely benign 2 6 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -24.0 1.0 Benign 1 -257695 Simple 7260371 A . Benign/Likely benign 2 6 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -24.0 1.0 Benign 1 -257702 Simple 146164995 A . Benign/Likely benign 2 1 not specified;Muscular dystrophy, limb-girdle, type 2y 2017-08-02 . 0.0 . 0 -257706 Simple 4777755 G . Benign 2 1 not specified 2016-01-07 . 2.0 . 0 -257707 Simple 146944583 C . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -257708 Simple 11074121 G . Benign 2 1 not specified 2016-01-05 . 2.0 . 0 -257709 Simple 2272457 T . Benign 2 1 not specified 2016-01-07 . 2.0 . 0 -257710 Simple 78359469 A . Benign 2 1 not specified 2016-01-12 . 2.0 . 0 -257711 Simple 34315566 T . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-08-14 -11.4 1.0 Benign/Likely benign 1 -257712 Simple 56227200 C . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-08-14 -11.4 1.0 Benign/Likely benign 1 -257713 Simple 12906163 C . Benign 2 1 not specified 2016-01-07 . 2.0 . 0 -257714 Simple 117844037 G . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-07-03 -9.0 0.0 Benign/Likely benign 0 -257715 Simple 141271290 T . Benign 2 1 not specified 2016-01-20 . 2.0 . 0 -257716 Simple 147569843 G . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified 2017-08-08 -14.7 1.0 Benign/Likely benign 0 -257717 Simple 145052299 A . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified 2017-08-08 -14.7 1.0 Benign/Likely benign 0 -257718 Simple 141088433 A . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified 2017-08-08 -14.7 1.0 Benign/Likely benign 0 -257728 Simple 886038430 T . Likely benign 2 1 Nemaline myopathy 2;not specified 2017-07-20 . 0.0 . 0 -257737 Simple 201225445 C . Benign/Likely benign 2 1 Nemaline myopathy 2;not specified 2017-08-11 . 0.0 . 0 -257739 Simple 886038439 G . Likely benign 2 2 Nemaline myopathy 2;not specified 2017-08-28 -6.0 0.0 Likely benign 0 -257741 Simple 886038441 A . Likely benign 2 1 not specified 2017-04-17 . 0.0 . 0 -257745 Simple 71415153 G . Likely benign 2 1 not specified 2017-10-19 . 0.0 . 0 -257747 Simple 71415152 T . Likely benign 2 1 not specified 2017-06-14 . 0.0 . 0 -257748 Simple 776187492 T . Benign/Likely benign 2 1 not specified 2017-03-21 . 0.0 . 0 -257749 Simple 11436831 C . Benign 2 1 not specified 2016-02-03 . 2.0 . 0 -257750 Simple 886038443 G . Likely benign 2 1 not specified 2016-10-14 . 1.0 . 0 -257751 Simple 200053313 G . Benign/Likely benign 2 1 not specified 2017-08-23 . 0.0 . 0 -257752 Simple 886038444 C . Benign/Likely benign 2 1 not specified 2017-09-18 . 0.0 . 0 -257755 Simple 45612241 A . Likely benign 2 1 not specified 2017-04-11 . 0.0 . 0 -257756 Simple 796103760 G . Benign/Likely benign 2 1 not specified 2017-08-17 . 0.0 . 0 -257758 Simple 542916866 A . Benign/Likely benign 2 1 not specified 2017-05-09 . 0.0 . 0 -257759 Simple 367881797 C . Benign 2 1 not specified 2016-02-26 . 2.0 . 0 -257761 Simple 546992311 A . Benign 2 1 not specified 2016-07-08 . 1.0 . 0 -257762 Simple 536508687 T . Benign/Likely benign 2 1 not specified 2017-08-31 . 0.0 . 0 -257763 Simple 200602229 C . Benign 2 1 not specified 2016-04-04 . 1.0 . 0 -257764 Simple 62174690 G . Benign 2 1 not specified 2015-12-22 . 2.0 . 0 -257766 Simple 62174689 G . Benign 2 1 not specified 2016-01-05 . 2.0 . 0 -257776 Simple 146294986 A . Benign/Likely benign 2 3 Nemaline myopathy 2;not specified 2017-08-02 -14.4 0.6666666666666666 Benign/Likely benign 0 -257781 Simple 200333206 A . Likely benign 2 1 not specified 2016-08-02 . 1.0 . 0 -257788 Simple 114218081 G . Benign 2 3 Nemaline myopathy 2;not specified 2017-08-08 -18.0 0.6666666666666666 Benign/Likely benign 1 -257795 Simple 77151072 C . Benign/Likely benign 2 4 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-06-12 -20.4 1.0 Benign/Likely benign 0 -257805 Simple 148839798 AA . Benign 2 1 not specified 2016-07-08 . 1.0 . 0 -257811 Simple 74320183 A . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2016-11-18 -11.4 1.5 Benign/Likely benign 0 -257819 Simple 115379999 A . Benign/Likely benign 2 1 Nemaline myopathy 2;not specified 2016-11-18 . 1.0 . 0 -257823 Simple 139963368 A . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-07-13 -12.0 0.5 Benign/Likely benign 0 -257824 Simple 112288851 A . Benign/Likely benign 2 1 not specified 2016-06-20 . 1.0 . 0 -257830 Simple 200425929 A . Likely benign 2 1 not specified 2017-10-23 . 0.0 . 0 -257834 Simple 61730773 A . Benign 2 2 Nemaline myopathy 2;not specified 2017-07-06 -12.0 0.5 Benign/Likely benign 1 -257835 Simple 192098032 T . Benign 2 2 Nemaline myopathy 2;not specified 2017-07-20 -12.0 0.5 Benign/Likely benign 1 -257837 Simple 369897667 T . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-07-11 -9.0 0.0 Benign/Likely benign 0 -257840 Simple 543100735 A . Likely benign 2 1 not specified 2017-05-15 . 0.0 . 0 -257841 Simple 72658841 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-06-14 . 1.0 . 0 -257844 Simple 771238763 A . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-05-15 . 0.0 . 0 -257847 Simple 368833367 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-11 . 0.0 . 0 -257849 Simple 72657402 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-04 . 0.0 . 0 -257851 Simple 200188856 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-31 . 0.0 . 0 -257863 Simple 144474011 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-04-05 . 0.0 . 0 -257869 Simple 72658832 A . Likely benign 2 1 not specified;not provided 2017-08-28 . 0.0 . 0 -257875 Simple 150966144 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-26 . 0.0 . 0 -257876 Simple 6966525 C . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-02-21 . 1.0 . 0 -257892 Simple 72655969 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-06 -9.0 0.5 Benign/Likely benign 0 -257903 Simple 115367126 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-06 . 0.0 . 0 -257910 Simple 143304361 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-05-16 . 0.0 . 0 -257932 Simple 147865931 G . Benign/Likely benign 2 1 not specified;not provided 2017-04-27 . 0.0 . 0 -257942 Simple 72657384 G . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-03 . 0.0 . 0 -257944 Simple 376448045 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-03-25 . 0.0 . 0 -257947 Simple 11860968 C . Benign/Likely benign 2 1 not specified;Osteopetrosis 2016-06-14 . 1.0 . 0 -257948 Simple 12935737 T . Benign/Likely benign 2 1 not specified;Osteopetrosis 2016-06-14 . 1.0 . 0 -257949 Simple 2235579 A . Benign 2 1 not specified;Osteopetrosis 2016-06-14 . 1.0 . 0 -257950 Simple 12926669 G . Benign/Likely benign 2 2 not specified;Osteopetrosis 2016-06-22 -9.0 1.0 Benign/Likely benign 0 -257951 Simple 117461525 T . Benign/Likely benign 2 1 not specified;Osteopetrosis 2016-06-14 . 1.0 . 0 -257953 Simple 35939214 A . Benign/Likely benign 2 1 not specified;Osteopetrosis 2016-06-14 . 1.0 . 0 -257954 Simple 35915213 T . Benign/Likely benign 2 1 not specified;Osteopetrosis 2016-06-14 . 1.0 . 0 -257956 Simple 35280276 G . Benign/Likely benign 2 1 not specified;Osteopetrosis 2016-06-14 . 1.0 . 0 -257957 Simple 12923538 A . Benign/Likely benign 2 1 not specified;Osteopetrosis 2016-06-14 . 1.0 . 0 -257960 Simple 3991715 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -257961 Simple 2279859 G . Benign 2 1 not specified 2016-03-15 . 1.0 . 0 -257962 Simple 139544302 T . Benign/Likely benign 2 1 not specified 2015-10-15 . 2.0 . 0 -257964 Simple 6727412 C . Benign/Likely benign 2 1 Achromatopsia;not specified 2016-06-14 . 1.0 . 0 -257965 Simple 76865413 T . Benign 2 1 not specified 2016-10-12 . 1.0 . 0 -257999 Simple 115271897 A . Benign/Likely benign 2 1 not specified;not provided 2017-08-28 . 0.0 . 0 -258011 Simple 149654950 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-06-30 . 0.0 . 0 -258031 Simple 548183364 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-08-22 . 1.0 . 0 -258032 Simple 201841311 C . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-03-24 . 0.0 . 0 -258034 Simple 74451896 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -258042 Simple 201484389 A . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-09-04 . 1.0 . 0 -258047 Simple 145895917 A . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-09 . 0.0 . 0 -258050 Simple 112102932 G . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-03 . 0.0 . 0 -258053 Simple 115382993 T . Benign/Likely benign 2 1 not specified;not provided 2017-08-28 . 0.0 . 0 -258056 Simple 149045168 G . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-03 . 0.0 . 0 -258064 Simple 77874614 G . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-04-13 . 0.0 . 0 -258066 Simple 77477793 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-05-02 . 0.0 . 0 -258077 Simple 145206990 T . Benign 2 1 not specified 2016-09-19 . 1.0 . 0 -258083 Simple 141146885 T . Benign/Likely benign 2 1 not specified;not provided 2017-09-08 . 0.0 . 0 -258088 Simple 148738342 T . Benign 2 1 not specified 2016-03-08 . 1.0 . 0 -258089 Simple 61458734 T . Benign/Likely benign 2 1 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 . 1.0 . 0 -258099 Simple 73074072 A . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-29 -9.0 1.0 Benign/Likely benign 0 -258100 Simple 2140104 T . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -258102 Simple 200721532 G . Likely benign 2 1 not specified 2016-08-26 . 1.0 . 0 -258103 Simple 9831243 A . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258106 Simple 1131356 A . Benign/Likely benign 2 3 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -258107 Simple 147846832 T . Benign/Likely benign 2 1 not specified;not provided 2016-09-28 . 1.0 . 0 -258108 Simple 62621997 T . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258109 Simple 3732632 G . Benign/Likely benign 2 1 not specified;FLNB-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -258110 Simple 2362903 G . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -258111 Simple 2362904 T . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258114 Simple 12632456 A . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258115 Simple 114882667 A . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-08-18 -6.0 1.0 Likely benign 1 -258116 Simple 62621996 G . Benign/Likely benign 2 1 not specified;FLNB-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -258117 Simple 138327769 G . Benign/Likely benign 2 1 not specified;FLNB-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -258118 Simple 140815373 A . Likely benign 2 1 not specified;FLNB-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -258119 Simple 12634123 A . Benign 2 1 not specified 2016-02-01 . 2.0 . 0 -258120 Simple 116826041 C . Benign/Likely benign 2 3 not specified;FLNB-Related Spectrum Disorders 2016-10-24 -12.0 1.0 Benign/Likely benign 0 -258121 Simple 13079906 A . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -258122 Simple 8640 T . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -258123 Simple 1522384 C . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258124 Simple 114713626 G . Benign 2 1 not specified 2016-03-25 . 1.0 . 0 -258125 Simple 199842696 T . Benign/Likely benign 2 1 not specified 2016-09-23 . 1.0 . 0 -258126 Simple 181134489 A . Benign 2 2 not specified;not provided 2017-05-30 -12.0 0.5 Benign/Likely benign 1 -258129 Simple 34972246 C . Benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-02 -17.4 1.0 Benign/Likely benign 1 -258130 Simple 144828462 C . Benign 2 1 not specified 2016-04-26 . 1.0 . 0 -258132 Simple 192725607 A . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-10-19 -6.0 0.0 Likely benign 0 -258133 Simple 75612085 C . Benign/Likely benign 2 1 not specified 2017-08-23 . 0.0 . 0 -258136 Simple 78086167 T . Benign 2 1 not specified 2016-01-13 . 2.0 . 0 -258137 Simple 71581921 T . Benign 2 1 not specified 2016-02-23 . 2.0 . 0 -258139 Simple 184454068 C . Benign/Likely benign 2 1 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-05 . 0.0 . 0 -258141 Simple 146953558 T . Benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-08 -17.4 1.0 Benign/Likely benign 1 -258143 Simple 200288149 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-06-21 -12.0 0.5 Benign/Likely benign 0 -258144 Simple 201069454 T . Benign/Likely benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-16 -12.0 0.3333333333333333 Benign/Likely benign 0 -258148 Simple 13227216 C . Benign 2 2 not specified 2016-02-08 -10.8 2.0 Benign/Likely benign 1 -258149 Simple 79790270 T . Benign 2 1 not specified 2016-01-13 . 2.0 . 0 -258150 Simple 58914363 A . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-17 -6.0 0.0 Likely benign 0 -258151 Simple 117653869 A . Benign 2 1 not specified 2016-03-02 . 2.0 . 0 -258152 Simple 12530507 A . Benign 2 1 not specified 2016-03-02 . 2.0 . 0 -258153 Simple 368849358 T . Likely benign 2 8 Primary dilated cardiomyopathy;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Hypertrophic cardiomyopathy;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-01 -23.7 0.25 Benign/Likely benign 1 -258154 Simple 55907818 A . Benign 2 2 not specified 2016-02-08 -10.8 2.0 Benign/Likely benign 1 -258157 Simple 2230906 T . Benign/Likely benign 2 1 Adult i blood group with or without congenital cataract;not specified 2016-06-14 . 1.0 . 0 -258160 Simple 4808863 A . Benign 2 2 not specified 2016-03-28 -12.0 1.0 Benign/Likely benign 1 -258161 Simple 181918871 T . Benign 2 1 Heterotaxy syndrome;not specified 2017-05-11 . 0.0 . 0 -258163 Simple 115335849 T . Benign 2 2 Cataract, zonular;not specified;Cataract 2017-07-10 -12.0 0.5 Benign/Likely benign 1 -258164 Simple 1058872 T . Benign/Likely benign 2 2 not specified;Distal hereditary motor neuronopathy;Charcot-Marie-Tooth, Type 2 2016-06-14 -6.0 1.0 Likely benign 1 -258168 Simple 667773 A . Benign 2 8 Foveal hypoplasia and presenile cataract syndrome;Keratitis, hereditary;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;Anophthalmia;Aniridia;Peters anomaly;Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 -47.4 1.125 Benign 0 -258169 Simple 886038487 T . Likely benign 2 1 not specified 2015-12-17 . 2.0 . 0 -258170 Simple 10991898 T . Benign/Likely benign 2 1 3-Methylglutaconic aciduria;not specified 2016-06-14 . 1.0 . 0 -258173 Simple 41281027 G . Benign/Likely benign 2 1 not specified;Hypercholanemia 2016-06-14 . 1.0 . 0 -258174 Simple 61755096 G . Benign/Likely benign 2 2 not specified;Hypercholanemia 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258175 Simple 142352008 T . Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -258178 Simple 145058498 A . Benign/Likely benign 2 1 not specified;Maturity-onset diabetes of the young 2016-06-14 . 1.0 . 0 -258180 Simple 13051066 T . Benign 2 1 Familial platelet disorder with associated myeloid malignancy;not specified 2016-06-14 . 1.0 . 0 -258181 Simple 535532916 C . Likely benign 2 1 Familial platelet disorder with associated myeloid malignancy;not specified 2016-06-14 . 1.0 . 0 -258184 Simple 61750222 C . Benign 2 1 Familial platelet disorder with associated myeloid malignancy;not specified 2016-06-14 . 1.0 . 0 -258185 Simple 199881885 C . Benign/Likely benign 2 1 Familial platelet disorder with associated myeloid malignancy;not specified 2016-06-14 . 1.0 . 0 -258187 Simple 377305704 C . Likely benign 2 1 Familial platelet disorder with associated myeloid malignancy;not specified 2017-07-19 . 0.0 . 0 -258188 Simple 11019400 G . Benign/Likely benign 2 2 Haim-Munk syndrome;Papillon-Lefèvre syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -258189 Simple 17594 C . Benign/Likely benign 2 3 Haim-Munk syndrome;Papillon-Lefèvre syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258192 Simple 61759480 C . Benign/Likely benign 2 2 Myopathy, congenital, compton-north;not specified 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -258193 Simple 10784981 A . Benign 2 1 not specified 2016-02-08 . 2.0 . 0 -258195 Simple 140462332 G . Likely benign 2 1 not specified 2017-04-24 . 0.0 . 0 -258196 Simple 12367345 G . Benign 2 1 not specified 2016-02-08 . 2.0 . 0 -258197 Simple 148239965 A . Benign 2 2 Myopathy, congenital, compton-north;not specified 2017-03-30 -12.0 0.5 Benign/Likely benign 1 -258200 Simple 201396853 C . Likely benign 2 1 not specified 2017-01-03 . 1.0 . 0 -258201 Simple 886038489 - . Likely benign 2 1 not specified 2017-07-26 . 0.0 . 0 -258202 Simple 56172264 G . Likely benign 2 2 Myopathy, congenital, compton-north;not specified 2017-06-27 -6.0 0.0 Likely benign 0 -258204 Simple 61748365 C . Benign 2 2 Myopathy, congenital, compton-north;not specified 2017-07-24 -11.4 1.0 Benign/Likely benign 1 -258206 Simple 150865922 A . Likely benign 2 1 not specified 2016-12-08 . 1.0 . 0 -258208 Simple 41317915 T . Benign/Likely benign 2 4 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2017-02-22 -18.0 1.0 Benign/Likely benign 0 -258209 Simple 35012272 G . Likely benign 2 1 not specified 2017-03-13 . 0.0 . 0 -258210 Simple 10875714 A . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258213 Simple 186233557 A . Benign/Likely benign 2 2 not specified 2017-06-26 -8.4 1.0 Benign/Likely benign 0 -258214 Simple 115270781 A . Benign 2 1 not specified 2016-11-30 . 1.0 . 0 -258217 Simple 41317939 G . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258220 Simple 41263847 A . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2017-02-28 -9.0 1.0 Benign/Likely benign 0 -258222 Simple 17122510 G . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258223 Simple 17801742 C . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258225 Simple 2276454 A . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -258230 Simple 41272027 A . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-10-10 -12.0 1.0 Benign/Likely benign 0 -258232 Simple 1793947 T . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-10-10 -12.0 1.0 Benign/Likely benign 0 -258233 Simple 73297150 A . Benign 2 1 not specified 2016-10-10 . 1.0 . 0 -258234 Simple 12721427 T . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258235 Simple 17122498 A . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258236 Simple 12721425 C . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258238 Simple 2070739 T . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258239 Simple 34392760 A . Benign/Likely benign 2 4 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-08-26 -18.0 1.0 Benign/Likely benign 0 -258243 Simple 1034762 C . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -258244 Simple 10875716 T . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -258246 Simple 995224 G . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-02 -24.0 0.75 Benign 0 -258247 Simple 536174 G . Benign 2 5 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-07-11 -29.4 1.0 Benign 0 -258249 Simple 16975492 T . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258250 Simple 874204 T . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258251 Simple 874203 A . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258252 Simple 117738194 T . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258253 Simple 589985 A . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258254 Simple 532625 T . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258255 Simple 1133219 A . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258257 Simple 2275843 A . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258258 Simple 3832900 - . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258259 Simple 146638269 T . Likely benign 2 3 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -258260 Simple 650724 A . Benign 2 5 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -30.0 0.8 Benign 0 -258261 Simple 645114 G . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2016-06-14 -24.0 1.0 Benign 0 -258262 Simple 598893 T . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258263 Simple 9588116 C . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258264 Simple 41275104 G . Benign 2 3 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -258265 Simple 677877 G . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2017-06-01 -24.0 0.75 Benign 0 -258285 Simple 185337381 A . Likely benign 2 1 not specified 2017-04-20 . 0.0 . 0 -258286 Simple 139987124 C . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -258287 Simple 139243418 A . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-04-27 -12.0 0.6666666666666666 Benign/Likely benign 0 -258293 Simple 201734661 T . Likely benign 2 1 Collagen VI-related myopathy;not specified 2016-06-14 . 1.0 . 0 -258303 Simple 61751027 T . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -258306 Simple 61735854 A . Benign 2 1 Bethlem myopathy 1;not specified 2017-07-14 . 0.0 . 0 -258311 Simple 114178849 A . Benign 2 2 not specified 2016-07-15 -12.0 1.0 Benign/Likely benign 1 -258316 Simple 61735828 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-03-17 -15.0 0.75 Benign/Likely benign 0 -258318 Simple 113857622 A . Benign/Likely benign 2 1 not specified 2017-01-06 . 1.0 . 0 -258328 Simple 369839157 A . Likely benign 2 2 not specified 2016-07-29 -6.0 1.0 Likely benign 0 -258330 Simple 61735831 A . Likely benign 2 3 Bethlem myopathy 1;not specified 2017-06-09 -8.7 1.0 Benign/Likely benign 1 -258335 Simple 592121 G . Benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-09-29 -18.0 1.0 Benign/Likely benign 1 -258337 Simple 16868869 G . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-11 -12.0 1.0 Benign/Likely benign 0 -258338 Simple 607156 G . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-17 -12.0 1.0 Benign/Likely benign 0 -258339 Simple 142247988 C . Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2017-06-02 -9.0 0.6666666666666666 Benign/Likely benign 1 -258340 Simple 73745357 G . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -258341 Simple 6935778 G . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-05 -12.0 1.0 Benign/Likely benign 0 -258343 Simple 537940 T . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-30 -12.0 1.0 Benign/Likely benign 0 -258345 Simple 150970524 T . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -258353 Simple 1135056 C . Benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-09-30 -18.0 1.0 Benign/Likely benign 1 -258354 Simple 13202029 G . Benign 2 2 not specified 2016-10-05 -11.4 1.5 Benign/Likely benign 1 -258358 Simple 6910140 C . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-06 -12.0 1.0 Benign/Likely benign 0 -258359 Simple 34119578 T . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -258360 Simple 200305129 G . Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -6.0 1.0 Likely benign 0 -258361 Simple 117215769 A . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-05 -12.0 1.0 Benign/Likely benign 0 -258362 Simple 12210123 G . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-05 -12.0 1.0 Benign/Likely benign 0 -258364 Simple 2228567 C . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-06 -12.0 1.0 Benign/Likely benign 0 -258365 Simple 6676013 T . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -258366 Simple 145327896 G . Benign/Likely benign 2 1 not specified 2017-07-13 . 0.0 . 0 -258367 Simple 117563156 T . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-11-04 -12.0 1.0 Benign/Likely benign 0 -258370 Simple 77695700 A . Benign/Likely benign 2 4 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-25 -18.0 1.0 Benign/Likely benign 0 -258371 Simple 186166446 C . Likely benign 2 1 not specified 2016-11-04 . 1.0 . 0 -258373 Simple 112370406 T . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-05 -12.0 1.0 Benign/Likely benign 0 -258374 Simple 6684531 C . Benign 2 2 not specified 2016-10-10 -12.0 1.0 Benign/Likely benign 1 -258375 Simple 74366749 G . Benign 2 1 not specified 2016-10-06 . 1.0 . 0 -258378 Simple 6674856 G . Benign 2 1 not specified 2016-10-10 . 1.0 . 0 -258382 Simple 140041506 T . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -258383 Simple 2229826 A . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-24 -12.0 1.0 Benign/Likely benign 0 -258387 Simple 1979785 G . Benign 2 1 not specified 2016-09-29 . 1.0 . 0 -258388 Simple 78091688 C . Benign 2 1 not specified 2016-09-30 . 1.0 . 0 -258389 Simple 11207843 A . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -258391 Simple 113549021 C . Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -6.0 1.0 Likely benign 0 -258392 Simple 3737815 A . Benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-09-30 -18.0 1.0 Benign/Likely benign 1 -258393 Simple 2228565 A . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-11 -12.0 1.0 Benign/Likely benign 0 -258394 Simple 56326652 G . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-10-17 -12.0 1.0 Benign/Likely benign 0 -258395 Simple 77550258 A . Benign 2 1 not specified 2016-10-14 . 1.0 . 0 -258397 Simple 118135975 C . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-12-30 -12.0 1.0 Benign/Likely benign 0 -258398 Simple 12077871 A . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -258399 Simple 2228564 C . Benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-09-29 -18.0 1.0 Benign/Likely benign 1 -258401 Simple 116108376 A . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258402 Simple 6062700 T . Benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258403 Simple 114458036 C . Benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258405 Simple 79269394 G . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258408 Simple 57754593 T . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258409 Simple 142066316 G . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258410 Simple 76559905 T . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258415 Simple 910152 C . Benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -258417 Simple 2294995 C . Benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258418 Simple 142792529 A . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258419 Simple 74830351 T . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258420 Simple 1048100 A . Benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258422 Simple 35908728 T . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258424 Simple 147947060 C . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -258426 Simple 45476191 T . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258427 Simple 530176764 A . Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258428 Simple 150148851 T . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258430 Simple 57739618 T . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -258432 Simple 139573483 A . Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258436 Simple 45628843 T . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258437 Simple 2249903 A . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258438 Simple 11164663 C . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-10-06 -24.0 1.0 Benign 0 -258439 Simple 17461252 A . Benign 2 1 not specified 2016-10-11 . 1.0 . 0 -258440 Simple 12136577 T . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-10-04 -24.0 1.0 Benign 0 -258442 Simple 2622875 T . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-10-03 -24.0 1.0 Benign 0 -258445 Simple 11164649 G . Benign 2 1 not specified 2016-09-29 . 1.0 . 0 -258446 Simple 79505593 A . Benign/Likely benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-11-14 -15.0 1.0 Benign/Likely benign 0 -258452 Simple 12136865 G . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-09-30 -24.0 1.0 Benign 0 -258453 Simple 149526015 G . Likely benign 2 3 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -258455 Simple 1012281 C . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-10-06 -24.0 1.0 Benign 0 -258457 Simple 371455495 G . Likely benign 2 3 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -258458 Simple 17127270 A . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-10-07 -24.0 1.0 Benign 0 -258460 Simple 77901108 A . Benign 2 1 not specified 2016-10-14 . 1.0 . 0 -258461 Simple 3753841 A . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-09-29 -24.0 1.0 Benign 0 -258463 Simple 186245518 A . Benign/Likely benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-10-28 -15.0 1.0 Benign/Likely benign 0 -258466 Simple 1763347 G . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-09-29 -24.0 1.0 Benign 0 -258467 Simple 17127203 C . Benign 2 1 not specified 2016-10-03 . 1.0 . 0 -258470 Simple 2229783 G . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-09-29 -24.0 1.0 Benign 0 -258478 Simple 41272667 A . Benign/Likely benign 2 3 Congenital hyperammonemia, type I;not specified 2017-08-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -258484 Simple 140578009 A . Benign 2 2 Congenital hyperammonemia, type I;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -258485 Simple 35520672 A . Benign 2 1 Cataract 23, multiple types;not specified 2017-05-23 . 0.0 . 0 -258494 Simple 778100657 T . Likely benign 2 1 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2016-07-22 . 1.0 . 0 -258497 Simple 201224981 T . Likely benign 2 1 not specified 2016-12-07 . 1.0 . 0 -258498 Simple 17223045 T . Benign 2 2 Cyclical neutropenia;Severe congenital neutropenia autosomal dominant;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -258501 Simple 17216663 T . Benign/Likely benign 2 4 Cyclical neutropenia;Severe congenital neutropenia autosomal dominant;not specified;not provided 2017-08-21 -18.0 0.5 Benign/Likely benign 0 -258504 Simple 5998 G . Benign 2 1 Factor xiii, b subunit, deficiency of;not specified 2016-06-14 . 1.0 . 0 -258505 Simple 5997 C . Benign 2 1 Factor xiii, b subunit, deficiency of;not specified 2016-06-14 . 1.0 . 0 -258506 Simple 372089451 C . Likely benign 2 1 not specified 2017-02-14 . 1.0 . 0 -258511 Simple 77493726 T . Benign 2 2 Congenital contractural arachnodactyly;not specified 2017-06-23 -11.4 1.0 Benign/Likely benign 1 -258518 Simple 886038504 G . Likely benign 2 1 not specified 2017-08-17 . 0.0 . 0 -258519 Simple 372234336 C . Likely benign 2 1 not specified 2015-11-23 . 2.0 . 0 -258525 Simple 377742525 T . Likely benign 2 1 not specified 2017-06-19 . 0.0 . 0 -258526 Simple 28763928 T . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-12 -5.1 2.5 Likely benign 0 -258529 Simple 144574441 A . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-19 -19.8 1.25 Benign/Likely benign 0 -258530 Simple 189589556 G . Benign/Likely benign 2 4 not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -258532 Simple 1049402 G . Benign 2 4 Charcot-Marie-Tooth disease type 2D;Distal hereditary motor neuronopathy type 5;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-04-29 -24.0 0.75 Benign 0 -258536 Simple 2240401 T . Benign 2 4 Charcot-Marie-Tooth disease type 2D;Distal hereditary motor neuronopathy type 5;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-04-29 -24.0 0.75 Benign 0 -258538 Simple 7808770 C . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-08-04 -20.4 1.0 Benign/Likely benign 0 -258541 Simple 61735969 A . Likely benign 2 1 not specified 2017-05-25 . 0.0 . 0 -258546 Simple 11085000 G . Benign 2 1 not specified 2015-06-29 . 2.0 . 0 -258550 Simple 61743822 T . Benign 2 1 Mucopolysaccharidosis, MPS-III-D;not specified 2017-07-18 . 0.0 . 0 -258551 Simple 140298583 A . Benign/Likely benign 2 1 Frontotemporal dementia, ubiquitin-positive;not specified 2017-06-28 . 0.0 . 0 -258552 Simple 138473783 A . Benign/Likely benign 2 2 Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;not specified 2017-06-20 -9.0 0.5 Benign/Likely benign 0 -258553 Simple 72824736 A . Benign/Likely benign 2 3 Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;not specified;Ceroid lipofuscinosis, neuronal, 11 2017-07-24 -15.0 0.3333333333333333 Benign/Likely benign 0 -258555 Simple 4930624 T . Benign 2 3 Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -258560 Simple 11228413 T . Benign 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2017-04-14 -18.0 0.6666666666666666 Benign/Likely benign 1 -258561 Simple 77247855 A . Benign 2 1 not specified 2016-03-02 . 2.0 . 0 -258563 Simple 34658653 T . Benign/Likely benign 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-03-03 -9.0 1.0 Benign/Likely benign 0 -258566 Simple 622082 G . Benign 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2017-04-30 -12.0 0.5 Benign/Likely benign 1 -258567 Simple 2236654 T . Benign 2 4 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2017-04-14 -23.4 1.0 Benign/Likely benign 1 -258568 Simple 2228206 A . Benign 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-07 -11.4 1.0 Benign/Likely benign 1 -258570 Simple 546382 T . Benign 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2017-04-30 -12.0 0.5 Benign/Likely benign 1 -258571 Simple 2228207 A . Benign/Likely benign 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-12 -9.0 0.5 Benign/Likely benign 0 -258572 Simple 2228208 A . Likely benign 2 1 not specified 2016-05-26 . 1.0 . 0 -258573 Simple 2275996 A . Benign/Likely benign 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -258574 Simple 201760315 A . Benign/Likely benign 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-05-04 -15.0 0.6666666666666666 Benign/Likely benign 0 -258575 Simple 1249463 C . Benign 2 4 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2017-04-30 -24.0 0.75 Benign 0 -258576 Simple 560096 C . Benign 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2017-04-30 -18.0 0.6666666666666666 Benign/Likely benign 1 -258577 Simple 10896380 G . Benign 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2017-04-14 -18.0 0.6666666666666666 Benign/Likely benign 1 -258581 Simple 202051829 A . Likely benign 2 1 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified 2017-06-29 . 0.0 . 0 -258582 Simple 79849707 A . Benign 2 1 not specified 2016-05-24 . 1.0 . 0 -258585 Simple 138301131 T . Likely benign 2 1 not specified 2016-03-15 . 1.0 . 0 -258587 Simple 149000088 C . Benign/Likely benign 2 3 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;not provided 2017-06-09 -12.0 0.3333333333333333 Benign/Likely benign 0 -258588 Simple 142060614 C . Benign/Likely benign 2 3 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;not provided 2017-06-09 -15.0 0.3333333333333333 Benign/Likely benign 0 -258592 Simple 73383128 T . Benign/Likely benign 2 3 Isovaleryl-CoA dehydrogenase deficiency;not specified 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -258593 Simple 12942034 G . Benign 2 1 not specified 2015-03-12 . 2.0 . 0 -258594 Simple 2359641 C . Benign/Likely benign 2 2 not specified;Familial atrial fibrillation 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258595 Simple 77500937 A . Benign/Likely benign 2 3 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not specified;Nephrotic syndrome 2017-06-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -258599 Simple 61729152 T . Benign 2 1 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not specified 2017-06-26 . 0.0 . 0 -258600 Simple 33942096 A . Benign/Likely benign 2 3 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not specified;Nephrotic syndrome 2017-08-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -258603 Simple 147076626 A . Benign/Likely benign 2 1 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not specified 2017-03-07 . 0.0 . 0 -258604 Simple 144092322 A . Benign 2 1 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not specified 2017-07-28 . 0.0 . 0 -258605 Simple 35713889 T . Benign/Likely benign 2 3 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not specified;Nephrotic syndrome 2017-08-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -258606 Simple 34759087 T . Benign/Likely benign 2 2 Pierson syndrome;not specified;Nephrotic syndrome 2016-06-14 -6.0 1.0 Likely benign 1 -258607 Simple 79448908 A . Benign/Likely benign 2 3 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not specified;Nephrotic syndrome 2017-08-08 -12.0 0.6666666666666666 Benign/Likely benign 0 -258608 Simple 34290943 C . Benign/Likely benign 2 2 Pierson syndrome;not specified;Nephrotic syndrome 2016-06-14 -6.0 1.0 Likely benign 1 -258612 Simple 61729458 A . Benign/Likely benign 2 3 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not specified;Nephrotic syndrome 2017-06-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -258615 Simple 74951356 T . Benign/Likely benign 2 3 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not specified;Nephrotic syndrome 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -258616 Simple 1056607 T . Benign 2 3 Greenberg dysplasia;not specified 2017-06-27 -18.0 0.6666666666666666 Benign/Likely benign 1 -258617 Simple 1056608 G . Benign 2 2 Greenberg dysplasia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -258619 Simple 2230419 T . Benign 2 2 Greenberg dysplasia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -258620 Simple 10115304 T . Benign 2 1 Nail-patella syndrome;not specified 2016-06-14 . 1.0 . 0 -258622 Simple 1336980 C . Benign 2 1 Nail-patella syndrome;not specified 2016-06-14 . 1.0 . 0 -258625 Simple 2277158 G . Benign 2 1 Nail-patella syndrome;not specified 2016-06-14 . 1.0 . 0 -258629 Simple 13295990 C . Benign 2 2 Nail-patella syndrome;not specified 2016-09-02 -12.0 1.0 Benign/Likely benign 1 -258631 Simple 112171815 A . Benign/Likely benign 2 1 Nail-patella syndrome;not specified 2016-06-14 . 1.0 . 0 -258640 Simple 3736228 T . Benign 2 1 not specified 2015-07-14 . 2.0 . 0 -258641 Simple 113442867 T . Benign/Likely benign 2 1 not specified 2016-08-30 . 1.0 . 0 -258642 Simple 314776 C . Benign 2 1 not specified 2016-05-24 . 1.0 . 0 -258644 Simple 72882786 T . Benign/Likely benign 2 2 Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -258645 Simple 62139669 C . Benign/Likely benign 2 2 Lynch syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258647 Simple 35973216 A . Benign/Likely benign 2 3 Multiple Epiphyseal Dysplasia, Dominant;Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -258648 Simple 52826764 T . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258649 Simple 28452699 T . Benign/Likely benign 2 1 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 . 1.0 . 0 -258650 Simple 3212368 A . Benign 2 1 not specified;Malignant Melanoma Susceptibility 2016-06-14 . 1.0 . 0 -258651 Simple 3212365 C . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;not specified;Malignant Melanoma Susceptibility 2017-03-01 -9.0 1.0 Benign/Likely benign 0 -258652 Simple 885479 A . Benign 2 1 not specified;Malignant Melanoma Susceptibility 2016-06-14 . 1.0 . 0 -258654 Simple 3212367 T . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;not specified;Malignant Melanoma Susceptibility 2017-06-26 -9.0 0.5 Benign/Likely benign 0 -258655 Simple 2228478 G . Benign 2 1 not specified;Malignant Melanoma Susceptibility 2016-06-14 . 1.0 . 0 -258657 Simple 4242182 C . Benign 2 2 not specified;Craniosynostosis;Enlarged parietal foramina 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -258662 Simple 181619118 T . Benign/Likely benign 2 1 not specified;Distal arthrogryposis 2016-06-14 . 1.0 . 0 -258663 Simple 11110952 C . Benign 2 1 not specified;Distal arthrogryposis 2016-06-14 . 1.0 . 0 -258664 Simple 140667525 T . Likely benign 2 1 not specified;Distal arthrogryposis 2016-06-14 . 1.0 . 0 -258671 Simple 2285468 G . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -258673 Simple 876660 C . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -258674 Simple 182229640 G . Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -258676 Simple 2285473 C . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -258683 Simple 114366800 A . Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -258693 Simple 114770362 T . Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -258698 Simple 397750512 TT . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258703 Simple 147148934 C . Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -258704 Simple 16943598 T . Likely benign 2 2 Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -258708 Simple 7147244 A . Benign 2 1 not specified 2016-09-29 . 1.0 . 0 -258715 Simple 17091278 C . Benign/Likely benign 2 6 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2017-08-08 -26.4 1.0 Benign 1 -258716 Simple 146732664 G . Likely benign 2 1 not specified 2015-07-21 . 2.0 . 0 -258728 Simple 150125254 A . Likely benign 2 2 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.0 1.0 Likely benign 0 -258735 Simple 370860479 A . Likely benign 2 2 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.0 1.0 Likely benign 0 -258756 Simple 146514663 T . Likely benign 2 2 not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -6.0 1.0 Likely benign 0 -258768 Simple 2308962 C . Benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -23.4 1.0 Benign/Likely benign 1 -258772 Simple 1564858 A . Benign/Likely benign 2 1 Hyperphosphatasemia with bone disease;not specified 2016-06-14 . 1.0 . 0 -258773 Simple 2228568 C . Benign/Likely benign 2 1 Hyperphosphatasemia with bone disease;not specified 2016-06-14 . 1.0 . 0 -258774 Simple 7844539 G . Benign/Likely benign 2 1 Hyperphosphatasemia with bone disease;not specified 2016-06-14 . 1.0 . 0 -258775 Simple 2073618 C . Benign 2 1 Hyperphosphatasemia with bone disease;not specified 2016-06-14 . 1.0 . 0 -258780 Simple 17110944 A . Benign 2 1 Infantile myofibromatosis 1;Premature aging syndrome, Penttinen type;not specified;Basal ganglia calcification, idiopathic, 4;Kosaki overgrowth syndrome 2017-08-01 . 0.0 . 0 -258781 Simple 116059308 G . Benign/Likely benign 2 1 not specified;not provided 2016-11-28 . 1.0 . 0 -258784 Simple 139803629 T . Benign/Likely benign 2 2 Glycogen phosphorylase kinase deficiency;not specified 2016-11-09 -9.0 1.0 Benign/Likely benign 0 -258785 Simple 138066694 A . Benign/Likely benign 2 3 Glycogen storage disease IXd;Glycogen phosphorylase kinase deficiency;not specified 2017-06-22 -14.4 1.0 Benign/Likely benign 0 -258787 Simple 2230245 T . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-29 -10.8 2.0 Benign/Likely benign 1 -258788 Simple 3218776 T . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -258790 Simple 141538857 A . Benign/Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-06-14 -8.4 1.0 Benign/Likely benign 0 -258791 Simple 150798392 G . Benign/Likely benign 2 1 not specified;Polycystic liver disease 2016-06-14 . 1.0 . 0 -258792 Simple 139144555 C . Benign/Likely benign 2 1 not specified;Polycystic liver disease 2016-06-14 . 1.0 . 0 -258793 Simple 34351170 G . Benign/Likely benign 2 1 not specified;Polycystic liver disease 2016-06-14 . 1.0 . 0 -258794 Simple 188406927 C . Benign/Likely benign 2 1 not specified;Polycystic liver disease 2016-06-14 . 1.0 . 0 -258796 Simple 62638749 C . Benign/Likely benign 2 1 not specified;Polycystic liver disease 2016-06-14 . 1.0 . 0 -258799 Simple 11553844 A . Likely benign 2 1 Hereditary pancreatitis;not specified 2017-02-10 . 1.0 . 0 -258800 Simple 183791770 T . Benign 2 1 not specified 2016-11-15 . 1.0 . 0 -258802 Simple 189270875 C . Benign/Likely benign 2 1 Hereditary pancreatitis;not specified 2017-03-08 . 0.0 . 0 -258804 Simple 76455588 C . Benign/Likely benign 2 4 Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258805 Simple 375720661 G . Likely benign 2 4 Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -258806 Simple 2070188 A . Benign 2 4 Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease 2016-06-14 -24.0 1.0 Benign 0 -258809 Simple 11000016 T . Benign/Likely benign 2 6 Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -30.0 1.0 Benign 1 -258810 Simple 1049882 A . Benign/Likely benign 2 4 Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -258813 Simple 371951288 A . Likely benign 2 1 not specified 2016-09-08 . 1.0 . 0 -258814 Simple 886038519 T . Likely benign 2 1 not specified 2016-07-19 . 1.0 . 0 -258817 Simple 375184329 C . Benign/Likely benign 2 1 not specified 2015-07-10 . 2.0 . 0 -258820 Simple 74125561 G . Benign/Likely benign 2 2 Zellweger syndrome;not specified;not provided 2016-10-13 -6.0 1.0 Likely benign 1 -258823 Simple 41291566 G . Benign/Likely benign 2 3 Cutis laxa-corneal clouding-oligophrenia syndrome;Spastic paraplegia 9;Cutis laxa, recessive;not specified;Cutis laxa, autosomal dominant 3 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -258825 Simple 10882640 T . Benign 2 2 Cutis laxa, recessive;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -258827 Simple 2275272 A . Benign/Likely benign 2 2 Cutis laxa, recessive;not specified 2016-10-03 -9.0 1.0 Benign/Likely benign 0 -258828 Simple 3216001 - . Benign 2 1 Glycogen storage disease, type VI;not specified 2016-06-14 . 1.0 . 0 -258829 Simple 1042266 G . Benign 2 1 Glycogen storage disease, type VI;not specified 2016-06-14 . 1.0 . 0 -258830 Simple 2075643 A . Benign 2 1 Glycogen storage disease, type VI;not specified 2016-06-14 . 1.0 . 0 -258834 Simple 74539788 G . Benign/Likely benign 2 1 Glycogen storage disease, type VI;not specified 2016-06-14 . 1.0 . 0 -258836 Simple 15669 A . Benign 2 1 Glycogen storage disease, type VI;not specified 2016-06-14 . 1.0 . 0 -258841 Simple 34313873 A . Benign 2 2 Glycogen storage disease, type VI;not specified 2017-08-03 -11.4 1.0 Benign/Likely benign 1 -258843 Simple 78558135 C . Benign/Likely benign 2 1 Glycogen storage disease, type VI;not specified 2016-06-14 . 1.0 . 0 -258846 Simple 946616 T . Benign/Likely benign 2 1 Glycogen storage disease, type VI;not specified 2016-06-14 . 1.0 . 0 -258849 Simple 17123244 G . Benign/Likely benign 2 1 Glycogen storage disease, type VI;not specified 2016-06-14 . 1.0 . 0 -258857 Simple 3138142 T . Benign/Likely benign 2 1 not specified;Fundus albipunctatus 2016-06-14 . 1.0 . 0 -258858 Simple 13193 G . Benign/Likely benign 2 1 not specified;Fundus albipunctatus 2016-06-14 . 1.0 . 0 -258860 Simple 368688611 A . Likely benign 2 1 Townes-Brocks syndrome 1;not specified 2016-06-14 . 1.0 . 0 -258861 Simple 146454164 A . Likely benign 2 1 Townes-Brocks syndrome 1;not specified 2016-06-14 . 1.0 . 0 -258862 Simple 144019351 T . Benign/Likely benign 2 1 Townes-Brocks syndrome 1;not specified 2016-06-14 . 1.0 . 0 -258863 Simple 61740811 A . Benign 2 2 Townes-Brocks syndrome 1;not specified;Townes syndrome 2017-05-16 -12.0 0.5 Benign/Likely benign 1 -258864 Simple 60270998 G . Benign 2 2 Townes-Brocks syndrome 1;not specified;Townes syndrome 2017-07-09 -12.0 0.5 Benign/Likely benign 1 -258865 Simple 45459896 C . Benign/Likely benign 2 2 Townes-Brocks syndrome 1;not specified;Townes syndrome 2017-03-27 -9.0 0.5 Benign/Likely benign 0 -258866 Simple 1965024 A . Benign 2 2 Townes-Brocks syndrome 1;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -258868 Simple 11645288 A . Benign 2 1 Townes-Brocks syndrome 1;not specified 2016-06-14 . 1.0 . 0 -258870 Simple 138635817 G . Benign/Likely benign 2 3 Townes-Brocks syndrome 1;not specified;not provided 2017-10-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -258871 Simple 4614723 T . Benign 2 1 Townes-Brocks syndrome 1;not specified 2016-06-14 . 1.0 . 0 -258872 Simple 75156807 T . Benign/Likely benign 2 1 Townes-Brocks syndrome 1;not specified 2016-06-14 . 1.0 . 0 -258873 Simple 139646526 C . Benign/Likely benign 2 2 Townes-Brocks syndrome 1;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -258874 Simple 113614842 GCTGCT . Benign/Likely benign 2 2 not specified;Townes syndrome 2017-02-07 -8.4 2.0 Benign/Likely benign 0 -258875 Simple 13336129 C . Benign 2 1 Townes-Brocks syndrome 1;not specified 2016-06-14 . 1.0 . 0 -258876 Simple 199760974 T . Benign/Likely benign 2 1 Townes-Brocks syndrome 1;not specified 2016-06-14 . 1.0 . 0 -258882 Simple 202055175 G . Benign/Likely benign 2 10 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-05-25 -32.7 0.9 Benign 1 -258885 Simple 200160858 A . Benign/Likely benign 2 1 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-08-03 . 0.0 . 0 -258886 Simple 112927502 A . Benign/Likely benign 2 7 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-06-14 -21.0 1.0 Benign/Likely benign 0 -258889 Simple 1022580 A . Benign 2 1 not specified 2016-08-15 . 1.0 . 0 -258891 Simple 115561881 T . Benign/Likely benign 2 1 Paragangliomas 4;not specified 2016-10-06 . 1.0 . 0 -258893 Simple 231402 T . Benign 2 2 Fibrous dysplasia of jaw;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -258894 Simple 3213501 C . Benign 2 2 Fibrous dysplasia of jaw;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -258895 Simple 62620003 T . Benign 2 1 Fibrous dysplasia of jaw;not specified 2016-06-14 . 1.0 . 0 -258896 Simple 16843413 G . Benign 2 1 Fibrous dysplasia of jaw;not specified 2016-06-14 . 1.0 . 0 -258897 Simple 28516876 A . Benign 2 1 Fibrous dysplasia of jaw;not specified 2016-06-14 . 1.0 . 0 -258898 Simple 231399 G . Benign 2 2 Fibrous dysplasia of jaw;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -258900 Simple 182600375 T . Benign/Likely benign 2 1 not specified 2017-07-08 . 0.0 . 0 -258902 Simple 114731222 T . Benign/Likely benign 2 1 not specified;Hyperinsulinism, Dominant 2016-06-14 . 1.0 . 0 -258910 Simple 3803679 C . Benign 2 1 not specified;Spastic Paraplegia, Recessive 2016-06-14 . 1.0 . 0 -258911 Simple 4785691 G . Benign 2 2 Spastic paraplegia 7;not specified;Spastic Paraplegia, Recessive 2017-04-14 -12.0 0.5 Benign/Likely benign 1 -258912 Simple 79438751 T . Benign/Likely benign 2 1 Hereditary pancreatitis;not specified 2016-06-14 . 1.0 . 0 -258913 Simple 35737774 A . Benign/Likely benign 2 3 Hereditary pancreatitis;not specified 2017-06-27 -15.0 0.6666666666666666 Benign/Likely benign 0 -258914 Simple 34809998 T . Benign/Likely benign 2 3 Hereditary pancreatitis;not specified 2017-07-12 -15.0 0.6666666666666666 Benign/Likely benign 0 -258915 Simple 34133563 A . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258916 Simple 435080 A . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258917 Simple 703116 A . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258918 Simple 148912436 C . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -258919 Simple 12090314 T . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258920 Simple 2564858 C . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258921 Simple 7547313 C . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-28 -15.0 0.75 Benign/Likely benign 0 -258922 Simple 2518493 C . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-13 -15.0 0.75 Benign/Likely benign 0 -258923 Simple 35121052 C . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-28 -15.0 0.75 Benign/Likely benign 0 -258924 Simple 16840450 C . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-28 -15.0 0.75 Benign/Likely benign 0 -258925 Simple 34706737 A . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-28 -15.0 0.75 Benign/Likely benign 0 -258926 Simple 857691 T . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-13 -15.0 0.75 Benign/Likely benign 0 -258929 Simple 2482965 C . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258930 Simple 2246434 A . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258931 Simple 34773716 A . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-28 -15.0 0.75 Benign/Likely benign 0 -258934 Simple 34214405 A . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-20 -15.0 0.75 Benign/Likely benign 0 -258935 Simple 6702040 T . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258940 Simple 41273523 T . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258941 Simple 16840544 T . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258942 Simple 863931 G . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258945 Simple 3738791 T . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258947 Simple 16830483 C . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258949 Simple 3753068 A . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258950 Simple 77877855 G . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258951 Simple 78394850 A . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258952 Simple 75931146 A . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258953 Simple 138055271 C . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -258954 Simple 28525570 A . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258955 Simple 857716 T . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258956 Simple 142775522 G . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258957 Simple 952094 G . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258958 Simple 2251969 C . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258959 Simple 325995 A . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258960 Simple 12083637 G . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258961 Simple 703121 G . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258962 Simple 325996 T . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -258963 Simple 12085628 T . Benign/Likely benign 2 3 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -258966 Simple 2304891 G . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -258967 Simple 58461583 C . Benign 2 2 Myopathy with tubular aggregates;Stormorken syndrome;Immune dysfunction with T-cell inactivation due to calcium entry defect 2;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -258968 Simple 150033189 G . Likely benign 2 1 Myopathy with tubular aggregates;Stormorken syndrome;Immune dysfunction with T-cell inactivation due to calcium entry defect 2;not specified 2017-02-20 . 1.0 . 0 -258970 Simple 116837894 A . Benign 2 1 Myopathy with tubular aggregates;Stormorken syndrome;Immune dysfunction with T-cell inactivation due to calcium entry defect 2;not specified 2017-08-02 . 0.0 . 0 -258971 Simple 2289570 G . Benign 2 1 not specified 2015-10-19 . 2.0 . 0 -258973 Simple 35960304 T . Benign 2 2 Myopathy with tubular aggregates;Stormorken syndrome;Immune dysfunction with T-cell inactivation due to calcium entry defect 2;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -258974 Simple 61743670 G . Benign 2 1 Myopathy with tubular aggregates;Stormorken syndrome;Immune dysfunction with T-cell inactivation due to calcium entry defect 2;not specified 2017-08-11 . 0.0 . 0 -258976 Simple 140080199 A . Likely benign 2 1 Myopathy with tubular aggregates;Stormorken syndrome;Immune dysfunction with T-cell inactivation due to calcium entry defect 2;not specified 2017-07-28 . 0.0 . 0 -258977 Simple 114583092 T . Benign 2 1 not specified 2016-05-11 . 1.0 . 0 -258978 Simple 371902632 T . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like 2016-10-26 -8.7 1.5 Benign/Likely benign 0 -258983 Simple 2857513 T . Benign 2 1 Char syndrome;not specified 2016-06-14 . 1.0 . 0 -258985 Simple 370476693 - . Benign 2 1 Char syndrome;not specified 2016-06-14 . 1.0 . 0 -258989 Simple 2069550 C . Benign/Likely benign 2 1 not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -258993 Simple 2069556 G . Benign/Likely benign 2 1 not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -258994 Simple 853304 C . Benign/Likely benign 2 1 not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -258996 Simple 2069561 A . Benign/Likely benign 2 1 not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -258997 Simple 56230101 C . Benign/Likely benign 2 1 not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -259000 Simple 2069568 T . Benign/Likely benign 2 1 not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -259001 Simple 2069569 C . Benign 2 1 not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -259002 Simple 1133076 A . Benign 2 1 not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -259003 Simple 2294024 T . Benign/Likely benign 2 1 not specified;Thyroid dyshormonogenesis 2016-06-14 . 1.0 . 0 -259004 Simple 886038528 T . Likely benign 2 1 not specified 2016-05-16 . 1.0 . 0 -259005 Simple 115510690 T . Likely benign 2 1 Heterotaxy syndrome;not specified 2016-06-14 . 1.0 . 0 -259007 Simple 757892012 A . Likely benign 2 1 Left-right axis malformations;not specified 2016-07-09 . 1.0 . 0 -259008 Simple 188858500 A . Benign/Likely benign 2 2 Left-right axis malformations;Heterotaxy syndrome;not specified 2017-04-05 -9.0 0.5 Benign/Likely benign 0 -259013 Simple 238132 A . Benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -259015 Simple 2229337 G . Benign/Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -259016 Simple 4468717 T . Benign/Likely benign 2 2 not specified;Holoprosencephaly 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -259017 Simple 2229333 T . Benign/Likely benign 2 2 not specified;Holoprosencephaly 2017-03-02 -9.0 1.0 Benign/Likely benign 0 -259018 Simple 2229335 T . Benign/Likely benign 2 2 Holoprosencephaly 4;not specified;Holoprosencephaly 2017-06-12 -9.0 0.5 Benign/Likely benign 0 -259019 Simple 2229336 G . Benign/Likely benign 2 2 Holoprosencephaly 4;not specified;Holoprosencephaly 2017-06-12 -9.0 0.5 Benign/Likely benign 0 -259022 Simple 139820259 A . Benign/Likely benign 2 1 not specified 2016-12-05 . 1.0 . 0 -259025 Simple 112517111 A . Benign 2 1 not specified 2016-07-28 . 1.0 . 0 -259029 Simple 201135309 C . Likely benign 2 1 not specified 2017-07-18 . 0.0 . 0 -259031 Simple 375682055 C . Likely benign 2 1 Nemaline myopathy 5;not specified 2017-07-28 . 0.0 . 0 -259033 Simple 77273500 G . Benign 2 1 not specified 2016-03-25 . 1.0 . 0 -259035 Simple 192248377 A . Likely benign 2 1 not specified 2016-07-21 . 1.0 . 0 -259036 Simple 532190742 A . Benign/Likely benign 2 1 not specified 2016-07-12 . 1.0 . 0 -259040 Simple 2304256 A . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259041 Simple 280519 G . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259042 Simple 12720355 A . Benign 2 1 Tyrosine kinase 2 deficiency;not specified 2017-08-17 . 0.0 . 0 -259043 Simple 12720356 C . Benign/Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -259044 Simple 2304252 A . Benign/Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259046 Simple 77875418 A . Benign 2 1 not specified;Uromodulin-associated kidney disease 2016-06-14 . 1.0 . 0 -259052 Simple 2228014 A . Benign 2 1 Warts, hypogammaglobulinemia, infections, and myelokathexis;not specified 2017-08-11 . 0.0 . 0 -259054 Simple 149393179 G . Likely benign 2 1 not specified;Kabuki syndrome 2016-06-14 . 1.0 . 0 -259057 Simple 373373098 A . Likely benign 2 1 not specified;Kabuki syndrome 2016-06-14 . 1.0 . 0 -259058 Simple 369601017 A . Likely benign 2 1 not specified;Kabuki syndrome 2016-06-14 . 1.0 . 0 -259060 Simple 200369026 A . Benign/Likely benign 2 2 not specified;Kabuki syndrome 2017-04-25 -9.0 0.5 Benign/Likely benign 0 -259069 Simple 74423119 G . Benign/Likely benign 2 3 Dysferlinopathy;not specified;not provided 2017-08-28 -12.0 0.0 Benign/Likely benign 0 -259089 Simple 79087781 A . Benign 2 2 Cataract 12, multiple types;not specified;Cataract 2017-07-10 -12.0 0.5 Benign/Likely benign 1 -259090 Simple 3754629 T . Benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -259091 Simple 3738952 T . Benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -259092 Simple 2070127 C . Benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -259097 Simple 768452237 G . Likely benign 2 1 not specified 2016-02-16 . 2.0 . 0 -259098 Simple 180940027 T . Benign 2 2 not specified;not provided 2017-06-20 -12.0 0.5 Benign/Likely benign 1 -259108 Simple 161058 G . Benign 2 2 Zellweger syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -259109 Simple 2230798 A . Benign 2 1 Familial dysautonomia;not specified 2017-08-03 . 0.0 . 0 -259110 Simple 2230795 T . Benign/Likely benign 2 3 Familial dysautonomia;not specified 2017-07-17 -14.4 1.0 Benign/Likely benign 0 -259111 Simple 1063110 G . Benign/Likely benign 2 1 Familial dysautonomia;not specified 2016-06-14 . 1.0 . 0 -259112 Simple 3204145 T . Benign/Likely benign 2 1 Familial dysautonomia;not specified 2016-06-14 . 1.0 . 0 -259113 Simple 1538660 A . Benign/Likely benign 2 1 Familial dysautonomia;not specified 2016-06-14 . 1.0 . 0 -259114 Simple 10521092 T . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -259115 Simple 398102543 AA . Benign/Likely benign 2 1 Familial dysautonomia;not specified 2016-06-14 . 1.0 . 0 -259117 Simple 3213945 T . Benign 2 1 not specified 2016-05-05 . 1.0 . 0 -259123 Simple 34057105 T . Benign 2 3 Ectrodactyly;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant;TP63-Related Spectrum Disorders 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259129 Simple 141847552 T . Likely benign 2 3 Ectrodactyly;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant;TP63-Related Spectrum Disorders 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -259134 Simple 33979049 T . Benign/Likely benign 2 4 Ectrodactyly;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant;TP63-Related Spectrum Disorders 2017-05-02 -15.0 0.75 Benign/Likely benign 0 -259143 Simple 3815675 G . Benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259144 Simple 57509552 T . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259145 Simple 11568364 C . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259146 Simple 191649793 G . Benign/Likely benign 2 2 not specified 2017-07-03 -8.4 1.0 Benign/Likely benign 0 -259147 Simple 853772 T . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -259148 Simple 853789 G . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -259149 Simple 11568373 C . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259150 Simple 11568374 G . Likely benign 2 1 not specified 2017-10-05 . 0.0 . 0 -259151 Simple 4148777 G . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259152 Simple 497692 C . Benign 2 3 not specified;Familial Intrahepatic Cholestasis 2016-07-13 -17.4 1.3333333333333333 Benign/Likely benign 1 -259153 Simple 11568359 C . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259154 Simple 11568363 T . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259155 Simple 11568377 A . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259156 Simple 11568378 T . Benign 2 1 not specified 2016-02-22 . 2.0 . 0 -259157 Simple 2287616 G . Benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259158 Simple 2287618 C . Benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -259159 Simple 7602204 T . Benign 2 1 not specified 2016-01-27 . 2.0 . 0 -259160 Simple 4148776 G . Benign 2 1 not specified 2016-01-23 . 2.0 . 0 -259161 Simple 17073498 A . Benign/Likely benign 2 2 Hemophagocytic lymphohistiocytosis, familial, 4;Familial hemophagocytic lymphohistiocytosis;not specified 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -259163 Simple 45574234 A . Benign/Likely benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 4;not specified 2017-07-10 . 0.0 . 0 -259164 Simple 9496891 G . Benign/Likely benign 2 2 Hemophagocytic lymphohistiocytosis, familial, 4;Familial hemophagocytic lymphohistiocytosis;not specified 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -259168 Simple 572846 G . Benign 2 1 not specified 2015-12-23 . 2.0 . 0 -259175 Simple 397798238 TCTTTCTT . Benign 2 1 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -259176 Simple 148707472 A . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -259177 Simple 7238731 A . Benign/Likely benign 2 2 not specified;Osteopetrosis;Paget disease of bone 2016-06-14 -6.0 1.0 Likely benign 1 -259182 Simple 1805034 T . Benign/Likely benign 2 3 not specified;Osteopetrosis;Paget disease of bone 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -259183 Simple 8092336 G . Benign/Likely benign 2 3 not specified;Osteopetrosis;Paget disease of bone 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -259185 Simple 148794726 A . Likely benign 2 1 not specified 2017-09-25 . 0.0 . 0 -259187 Simple 10058037 A . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;not specified;Paget disease of bone 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -259188 Simple 55793208 C . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;not specified;Paget disease of bone 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -259189 Simple 4935 T . Benign/Likely benign 2 1 not specified;Paget disease of bone 2016-06-14 . 1.0 . 0 -259190 Simple 139482113 A . Likely benign 2 1 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;not specified 2017-07-17 . 0.0 . 0 -259191 Simple 4797 A . Benign/Likely benign 2 1 not specified;Paget disease of bone 2016-06-14 . 1.0 . 0 -259192 Simple 56092424 T . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;not specified;Paget disease of bone 2017-08-09 -9.0 0.5 Benign/Likely benign 0 -259193 Simple 140226523 T . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;not specified;Paget disease of bone 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -259196 Simple 139062360 A . Benign 2 2 Myoclonic dystonia;not specified 2017-05-18 -11.4 1.0 Benign/Likely benign 1 -259197 Simple 140913016 G . Benign/Likely benign 2 1 Myoclonic dystonia;not specified 2017-07-27 . 0.0 . 0 -259198 Simple 2272091 G . Benign 2 1 Myoclonic dystonia;not specified 2017-04-13 . 0.0 . 0 -259199 Simple 2721176 C . Benign 2 2 not specified;Holoprosencephaly 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -259200 Simple 180724802 A . Benign/Likely benign 2 2 Holoprosencephaly sequence;not specified;Holoprosencephaly 2016-12-13 -9.0 1.0 Benign/Likely benign 0 -259202 Simple 201892150 C . Benign/Likely benign 2 2 Congenital central hypoventilation;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -9.0 0.0 Benign/Likely benign 0 -259203 Simple 144414806 C . Likely benign 2 2 Congenital central hypoventilation;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -6.0 0.0 Likely benign 0 -259204 Simple 11822907 T . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome;Familial Isolated Pituitary Adenomas 2016-12-12 -12.0 1.0 Benign/Likely benign 1 -259205 Simple 641081 A . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Familial Isolated Pituitary Adenomas 2016-12-08 -23.4 1.25 Benign/Likely benign 1 -259206 Simple 4930199 G . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome;Familial Isolated Pituitary Adenomas 2016-12-08 -12.0 1.0 Benign/Likely benign 1 -259207 Simple 35538044 A . Benign/Likely benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -259208 Simple 34618738 A . Benign/Likely benign 2 3 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-07-24 -15.0 0.6666666666666666 Benign/Likely benign 0 -259211 Simple 34240327 C . Benign/Likely benign 2 3 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-08-10 -15.0 0.6666666666666666 Benign/Likely benign 0 -259212 Simple 11858480 T . Benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259216 Simple 761338933 G . Likely benign 2 1 not specified 2016-10-07 . 1.0 . 0 -259217 Simple 185664502 T . Likely benign 2 1 Duchenne muscular dystrophy;not specified 2017-05-16 . 0.0 . 0 -259220 Simple 8065946 G . Benign/Likely benign 2 2 Pseudoneonatal adrenoleukodystrophy;not specified 2017-06-09 -9.0 0.5 Benign/Likely benign 0 -259221 Simple 35629489 A . Benign/Likely benign 2 2 Pseudoneonatal adrenoleukodystrophy;not specified 2017-06-09 -9.0 0.5 Benign/Likely benign 0 -259223 Simple 1135640 C . Benign 2 1 Pseudoneonatal adrenoleukodystrophy;not specified 2016-06-14 . 1.0 . 0 -259226 Simple 2066827 G . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia 2016-11-18 -24.0 1.0 Benign 0 -259228 Simple 17670506 A . Benign/Likely benign 2 2 Cataract, congenital nuclear, autosomal recessive 2;not specified;Congenital nuclear cataract 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -259229 Simple 9608378 G . Benign 2 1 not specified;Congenital nuclear cataract 2016-06-14 . 1.0 . 0 -259230 Simple 13055430 T . Benign/Likely benign 2 1 not specified;Congenital nuclear cataract 2016-06-14 . 1.0 . 0 -259231 Simple 72466490 A . Benign/Likely benign 2 4 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified;Distal hereditary motor neuronopathy 2017-07-14 -18.0 0.5 Benign/Likely benign 0 -259232 Simple 17721059 T . Benign/Likely benign 2 4 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified;Distal hereditary motor neuronopathy 2017-08-04 -17.4 1.0 Benign/Likely benign 0 -259233 Simple 13429423 C . Benign 2 3 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified;Distal hereditary motor neuronopathy 2017-08-02 -18.0 0.6666666666666666 Benign/Likely benign 1 -259235 Simple 1130484 C . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified;Distal hereditary motor neuronopathy 2017-08-09 -12.0 0.6666666666666666 Benign/Likely benign 0 -259238 Simple 73948789 A . Benign/Likely benign 2 2 Perry syndrome;not specified;Distal hereditary motor neuronopathy 2016-06-14 -6.0 1.0 Likely benign 1 -259241 Simple 13420401 T . Benign 2 3 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified;Distal hereditary motor neuronopathy 2017-08-02 -18.0 0.6666666666666666 Benign/Likely benign 1 -259243 Simple 377134185 G . Benign/Likely benign 2 5 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2017-12-09 -20.4 1.0 Benign/Likely benign 0 -259244 Simple 1126568 A . Benign/Likely benign 2 1 not specified;Hereditary cancer-predisposing syndrome 2015-12-10 . 2.0 . 0 -259245 Simple 34504623 T . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -259246 Simple 193283468 C . Benign 2 1 not specified 2016-03-08 . 1.0 . 0 -259248 Simple 2288461 G . Benign/Likely benign 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -259250 Simple 536749831 - . Likely benign 2 1 not specified;not provided 2016-08-31 . 1.0 . 0 -259257 Simple 34437789 A . Benign 2 1 Baller-Gerold syndrome;not specified 2017-08-11 . 0.0 . 0 -259264 Simple 753166413 T . Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2017-07-12 -6.0 0.5 Likely benign 0 -259265 Simple 56165377 A . Benign/Likely benign 2 4 Neuroblastoma 3;not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-03 -21.0 0.75 Benign/Likely benign 0 -259266 Simple 2293564 C . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-08 -23.4 1.25 Benign/Likely benign 1 -259267 Simple 138165457 A . Likely benign 2 1 Neuroblastoma 3;not specified 2017-03-09 . 0.0 . 0 -259268 Simple 2256740 G . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-08 -17.4 1.3333333333333333 Benign/Likely benign 1 -259269 Simple 4358080 C . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-08 -23.4 1.25 Benign/Likely benign 1 -259270 Simple 2293563 T . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-12 -18.0 1.0 Benign/Likely benign 1 -259271 Simple 4622670 A . Benign 2 2 not specified;Neuroblastoma Susceptibility 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -259272 Simple 17007646 A . Benign 2 3 not specified;Neuroblastoma Susceptibility 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -259273 Simple 56132472 A . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-12 -15.0 1.0 Benign/Likely benign 0 -259274 Simple 2246745 T . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-08 -23.4 1.25 Benign/Likely benign 1 -259275 Simple 35513736 A . Benign/Likely benign 2 1 Farber's lipogranulomatosis;not specified 2016-06-14 . 1.0 . 0 -259278 Simple 1071645 T . Benign 2 2 Farber's lipogranulomatosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259283 Simple 10103355 G . Benign 2 2 Farber's lipogranulomatosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259286 Simple 7074064 C . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2016-08-15 -18.0 1.0 Benign/Likely benign 1 -259287 Simple 12267107 A . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259292 Simple 34939176 AA . Benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -259294 Simple 192240793 A . Benign 2 1 Acute myeloid leukemia;not specified 2017-08-11 . 0.0 . 0 -259295 Simple 78365682 A . Likely benign 2 1 Bethlem myopathy 1;not specified 2017-03-22 . 0.0 . 0 -259296 Simple 115387170 G . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-06-15 -14.7 0.75 Benign/Likely benign 0 -259298 Simple 116239777 A . Likely benign 2 1 Collagen VI-related myopathy;not specified 2016-06-14 . 1.0 . 0 -259300 Simple 115548605 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-20 -15.0 0.5 Benign/Likely benign 0 -259305 Simple 141560881 A . Likely benign 2 1 Bethlem myopathy 1;not specified 2017-02-20 . 1.0 . 0 -259306 Simple 113542401 A . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2017-06-13 -12.0 0.5 Benign/Likely benign 0 -259309 Simple 202091342 A . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-08-08 -14.4 1.0 Benign/Likely benign 0 -259315 Simple 769480395 AA . Likely benign 2 1 not specified 2015-09-15 . 2.0 . 0 -259317 Simple 372744024 G . Likely benign 2 2 Collagen VI-related myopathy;not specified 2017-07-20 -6.0 0.5 Likely benign 0 -259319 Simple 34767467 C . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-28 . 0.0 . 0 -259323 Simple 77790445 T . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-28 . 0.0 . 0 -259324 Simple 116691242 G . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-28 . 0.0 . 0 -259325 Simple 141517088 A . Benign/Likely benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-06-05 . 0.0 . 0 -259326 Simple 35170847 T . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-27 . 0.0 . 0 -259327 Simple 35429515 G . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-14 . 0.0 . 0 -259330 Simple 73749974 T . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-14 . 0.0 . 0 -259331 Simple 34830422 G . Benign/Likely benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-28 . 0.0 . 0 -259332 Simple 370024636 T . Likely benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2016-11-13 . 1.0 . 0 -259337 Simple 79830915 T . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-14 . 0.0 . 0 -259338 Simple 77425231 T . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-06-27 . 0.0 . 0 -259340 Simple 146146364 A . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-04-14 . 0.0 . 0 -259342 Simple 34619869 G . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-08-08 . 0.0 . 0 -259344 Simple 35523808 A . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-08-08 . 0.0 . 0 -259345 Simple 35551395 A . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-06-22 . 0.0 . 0 -259347 Simple 35710072 C . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-25 . 0.0 . 0 -259348 Simple 200408101 G . Likely benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-02-06 . 1.0 . 0 -259349 Simple 34369939 G . Benign/Likely benign 2 2 not specified;not provided;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -259352 Simple 16886258 C . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-28 . 0.0 . 0 -259355 Simple 34846477 G . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-08-02 . 0.0 . 0 -259357 Simple 35292916 A . Benign 2 1 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-29 . 0.0 . 0 -259360 Simple 202204380 G . Benign/Likely benign 2 1 not specified 2017-06-26 . 0.0 . 0 -259361 Simple 2287926 A . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259362 Simple 144502710 C . Likely benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -259363 Simple 12332199 C . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259364 Simple 35042106 T . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259366 Simple 16900528 G . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259367 Simple 113965318 T . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259368 Simple 34050047 A . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259369 Simple 141008923 A . Likely benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -259370 Simple 141477510 T . Likely benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -259371 Simple 113659987 T . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259372 Simple 80200229 A . Benign/Likely benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 0 -259373 Simple 4470745 G . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259374 Simple 16900532 A . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259375 Simple 113014073 A . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259376 Simple 139453864 A . Benign/Likely benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -259377 Simple 695103 C . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259378 Simple 16900564 T . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259379 Simple 308365 T . Benign 2 3 Wagner syndrome;not specified;Vitreoretinopathy 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259380 Simple 7728764 T . Benign 2 1 Atrial septal defect 7 with or without atrioventricular conduction defects;not specified 2017-07-18 . 0.0 . 0 -259385 Simple 373416071 T . Likely benign 2 1 not specified 2016-03-25 . 1.0 . 0 -259387 Simple 55700006 T . Benign/Likely benign 2 1 not specified;Age-related cortical cataract 2016-06-14 . 1.0 . 0 -259389 Simple 10907223 A . Benign 2 1 not specified;Age-related cortical cataract 2016-06-14 . 1.0 . 0 -259390 Simple 112285834 A . Benign/Likely benign 2 1 not specified;Age-related cortical cataract 2016-06-14 . 1.0 . 0 -259391 Simple 35903225 T . Benign/Likely benign 2 2 Cataract 6, multiple types;not specified;Age-related cortical cataract 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -259392 Simple 3754334 A . Benign 2 1 not specified;Age-related cortical cataract 2016-06-14 . 1.0 . 0 -259393 Simple 6678618 T . Benign 2 1 not specified;Age-related cortical cataract 2016-06-14 . 1.0 . 0 -259394 Simple 6678616 T . Benign 2 1 not specified;Age-related cortical cataract 2016-06-14 . 1.0 . 0 -259395 Simple 34753465 A . Benign 2 2 Cataract 6, multiple types;not specified;Age-related cortical cataract 2017-05-11 -12.0 0.5 Benign/Likely benign 1 -259396 Simple 2291804 T . Benign 2 1 not specified;Age-related cortical cataract 2016-06-14 . 1.0 . 0 -259397 Simple 138164293 A . Benign/Likely benign 2 2 Cataract 6, multiple types;not specified;Age-related cortical cataract 2016-09-15 -9.0 1.0 Benign/Likely benign 0 -259398 Simple 2230597 A . Benign 2 1 not specified;Age-related cortical cataract 2016-06-14 . 1.0 . 0 -259400 Simple 3217095 - . Benign 2 1 Weaver syndrome;not specified 2016-06-14 . 1.0 . 0 -259405 Simple 2314298 G . Benign 2 1 Wilms tumor 1;not specified 2017-08-17 . 0.0 . 0 -259412 Simple 143342962 - . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -259413 Simple 2075254 A . Benign 2 2 Donnai Barrow syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259419 Simple 4667596 T . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -259420 Simple 61995915 C . Benign/Likely benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -259422 Simple 1559013 C . Benign 2 1 Donnai Barrow syndrome;not specified 2016-06-14 . 1.0 . 0 -259434 Simple 12375 T . Benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -259439 Simple 12070353 A . Benign/Likely benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -259442 Simple 1050931 A . Benign 2 1 not specified;Griscelli disease 2016-06-14 . 1.0 . 0 -259446 Simple 8192613 T . Benign 2 1 not specified 2016-09-06 . 1.0 . 0 -259448 Simple 2289292 T . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -259452 Simple 200055681 G . Likely benign 2 1 Thoracic aortic aneurysm and aortic dissection;not specified 2017-02-07 . 1.0 . 0 -259453 Simple 11568778 G . Benign 2 1 not specified 2015-12-22 . 2.0 . 0 -259454 Simple 36111323 A . Benign 2 2 Focal segmental glomerulosclerosis 2;Focal segmental glomerulosclerosis;not specified 2017-04-14 -12.0 0.5 Benign/Likely benign 1 -259455 Simple 12366144 G . Benign 2 2 Focal segmental glomerulosclerosis 2;Focal segmental glomerulosclerosis;not specified 2017-04-14 -12.0 0.5 Benign/Likely benign 1 -259457 Simple 139187399 G . Likely benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -259458 Simple 61743044 A . Benign 2 2 Focal segmental glomerulosclerosis 2;Focal segmental glomerulosclerosis;not specified 2017-05-15 -12.0 0.5 Benign/Likely benign 1 -259459 Simple 145077205 T . Likely benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -259460 Simple 72984209 A . Benign 2 2 Focal segmental glomerulosclerosis 2;Focal segmental glomerulosclerosis;not specified 2017-04-14 -12.0 0.5 Benign/Likely benign 1 -259462 Simple 12805398 T . Benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -259463 Simple 3802829 A . Benign 2 2 Focal segmental glomerulosclerosis 2;Focal segmental glomerulosclerosis;not specified 2017-04-14 -12.0 0.5 Benign/Likely benign 1 -259465 Simple 2607775 G . Benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -259476 Simple 187315404 T . Likely benign 2 1 Fanconi anemia;not specified 2017-07-18 . 0.0 . 0 -259477 Simple 587118 C . Benign 2 4 Fanconi anemia;not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2016-08-08 -24.0 1.0 Benign 0 -259482 Simple 33950747 T . Benign/Likely benign 2 1 Finnish congenital nephrotic syndrome;not specified 2016-06-14 . 1.0 . 0 -259484 Simple 392702 A . Benign/Likely benign 2 2 Finnish congenital nephrotic syndrome;not specified 2017-05-15 -9.0 0.5 Benign/Likely benign 0 -259489 Simple 437168 A . Benign/Likely benign 2 2 Finnish congenital nephrotic syndrome;not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -259492 Simple 2285450 A . Benign/Likely benign 2 1 Finnish congenital nephrotic syndrome;not specified 2016-06-14 . 1.0 . 0 -259493 Simple 34736717 G . Benign/Likely benign 2 1 Finnish congenital nephrotic syndrome;not specified 2016-06-14 . 1.0 . 0 -259496 Simple 4806213 C . Benign/Likely benign 2 2 Finnish congenital nephrotic syndrome;not specified 2016-08-24 -9.0 1.0 Benign/Likely benign 0 -259497 Simple 2071327 T . Benign/Likely benign 2 2 Finnish congenital nephrotic syndrome;not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -259500 Simple 3814995 T . Benign/Likely benign 2 2 Finnish congenital nephrotic syndrome;not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -259501 Simple 77309273 A . Benign/Likely benign 2 1 Finnish congenital nephrotic syndrome;not specified 2016-06-14 . 1.0 . 0 -259508 Simple 113825926 A . Benign 2 1 not specified 2016-03-03 . 2.0 . 0 -259509 Simple 9915936 C . Benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259510 Simple 1133683 A . Benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259511 Simple 2240308 A . Benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259514 Simple 35415678 A . Benign 2 1 Oligodontia-colorectal cancer syndrome;not specified 2016-06-14 . 1.0 . 0 -259515 Simple 2240307 G . Benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-21 -12.0 0.5 Benign/Likely benign 1 -259517 Simple 140641333 A . Likely benign 2 5 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -14.7 1.0 Benign/Likely benign 1 -259525 Simple 3743171 T . Benign 2 1 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 . 1.0 . 0 -259526 Simple 35984752 A . Benign/Likely benign 2 1 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 . 1.0 . 0 -259527 Simple 35571449 G . Benign/Likely benign 2 1 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 . 1.0 . 0 -259528 Simple 3804769 C . Benign 2 1 not specified;Spastic Paraplegia, Dominant 2016-06-14 . 1.0 . 0 -259530 Simple 372629986 T . Likely benign 2 1 not specified 2016-01-11 . 2.0 . 0 -259532 Simple 377566674 A . Likely benign 2 1 not specified 2017-09-29 . 0.0 . 0 -259538 Simple 146459055 G . Likely benign 2 3 Amyotrophic lateral sclerosis type 8;Spinal muscular atrophy, late-onset, finkel type;not specified;Amyotrophic Lateral Sclerosis, Dominant;Spinal Muscular Atrophy, Dominant 2017-08-02 -9.0 0.6666666666666666 Benign/Likely benign 1 -259539 Simple 2245803 G . Benign 2 1 not specified;Amelogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -259541 Simple 1784423 G . Benign 2 1 not specified;Amelogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -259542 Simple 1784424 T . Benign 2 1 not specified;Amelogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -259547 Simple 1132349 G . Benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -259551 Simple 80014470 G . Benign 2 1 not specified 2015-12-14 . 2.0 . 0 -259560 Simple 34298354 T . Benign 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -259562 Simple 7525979 T . Benign 2 5 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-06-14 -30.0 1.0 Benign 0 -259571 Simple 12986337 C . Benign 2 1 Focal segmental glomerulosclerosis 1;not specified 2017-04-12 . 0.0 . 0 -259576 Simple 1136956 C . Benign 2 1 Focal segmental glomerulosclerosis 1;not specified 2017-04-12 . 0.0 . 0 -259580 Simple 149027682 T . Benign 2 1 not specified 2016-11-22 . 1.0 . 0 -259581 Simple 11553600 A . Benign 2 1 Focal segmental glomerulosclerosis 1;not specified 2017-04-12 . 0.0 . 0 -259582 Simple 3745859 T . Benign 2 1 Focal segmental glomerulosclerosis 1;not specified 2017-04-12 . 0.0 . 0 -259590 Simple 1110062 T . Benign 2 1 Oligosynaptic infertility;46,XY sex reversal, type 3;not specified 2017-08-04 . 0.0 . 0 -259594 Simple 741810 A . Benign 2 2 Amyotrophic lateral sclerosis type 6;not specified;Amyotrophic Lateral Sclerosis, Dominant 2017-04-14 -12.0 0.5 Benign/Likely benign 1 -259595 Simple 61733962 T . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis type 6;not specified;Tremor, hereditary essential, 4;Amyotrophic Lateral Sclerosis, Dominant 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -259596 Simple 73530283 C . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis type 6;not specified;Tremor, hereditary essential, 4;Amyotrophic Lateral Sclerosis, Dominant 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -259598 Simple 1052352 T . Benign 2 2 Amyotrophic lateral sclerosis type 6;not specified;Amyotrophic Lateral Sclerosis, Dominant 2017-05-31 -12.0 0.5 Benign/Likely benign 1 -259600 Simple 3738298 T . Benign 2 1 not specified 2016-09-26 . 1.0 . 0 -259603 Simple 886038555 TT . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -259604 Simple 111530469 A . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -259605 Simple 112597191 C . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -259619 Simple 3742801 T . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -259620 Simple 2301345 G . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -259621 Simple 4148077 T . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -259622 Simple 4148078 T . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -259625 Simple 72905825 T . Benign/Likely benign 2 2 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -259627 Simple 45547231 A . Benign/Likely benign 2 3 Pena-Shokeir syndrome type I;not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -259630 Simple 34625105 T . Benign/Likely benign 2 4 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive 2017-07-27 -18.0 0.75 Benign/Likely benign 0 -259641 Simple 56163822 T . Benign 2 1 not specified 2015-09-04 . 2.0 . 0 -259645 Simple 4681 T . Benign/Likely benign 2 1 Afibrinogenemia, congenital;not specified 2016-06-14 . 1.0 . 0 -259648 Simple 6056 T . Benign 2 1 Afibrinogenemia, congenital;not specified 2016-06-14 . 1.0 . 0 -259649 Simple 6058 T . Benign/Likely benign 2 1 Afibrinogenemia, congenital;not specified 2016-06-14 . 1.0 . 0 -259650 Simple 140114081 - . Benign 2 1 Afibrinogenemia, congenital;not specified 2016-06-14 . 1.0 . 0 -259652 Simple 2070139 A . Benign 2 2 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259657 Simple 141010716 T . Likely benign 2 1 not specified 2016-03-29 . 1.0 . 0 -259659 Simple 146693439 G . Likely benign 2 2 Muscular dystrophy, congenital, megaconial type;not specified 2017-08-07 -6.0 0.0 Likely benign 0 -259667 Simple 2289080 A . Benign/Likely benign 2 4 Multiple pterygium syndrome Escobar type;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -259670 Simple 13018423 T . Benign/Likely benign 2 2 Multiple pterygium syndrome Escobar type;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -259673 Simple 142631461 T . Benign 2 1 Cataract, congenital zonular, with sutural opacities;not specified 2017-07-19 . 0.0 . 0 -259675 Simple 33937843 A . Benign/Likely benign 2 1 not specified;Amelogenesis Imperfecta, Dominant 2016-06-14 . 1.0 . 0 -259676 Simple 2303466 T . Benign 2 1 not specified;Amelogenesis Imperfecta, Dominant 2016-06-14 . 1.0 . 0 -259677 Simple 2227984 A . Benign/Likely benign 2 2 Lung cancer;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -259679 Simple 2293347 T . Benign/Likely benign 2 1 Lung cancer;not specified 2016-06-14 . 1.0 . 0 -259680 Simple 2072454 T . Benign/Likely benign 2 1 Lung cancer;not specified 2016-06-14 . 1.0 . 0 -259681 Simple 7801956 A . Benign/Likely benign 2 1 Lung cancer;not specified 2016-06-14 . 1.0 . 0 -259682 Simple 9929524 T . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -259683 Simple 762521 A . Benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -259684 Simple 16963255 A . Benign/Likely benign 2 2 Xeroderma pigmentosum, group F;Cockayne syndrome;Xeroderma pigmentosum;not specified;Fanconi anemia, complementation group Q 2017-06-26 -9.0 0.5 Benign/Likely benign 0 -259686 Simple 254942 A . Benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -259690 Simple 41538178 A . Benign 2 1 not specified 2016-02-26 . 2.0 . 0 -259698 Simple 80337126 A . Benign/Likely benign 2 2 Severe congenital neutropenia 2, autosomal dominant;not specified;Severe congenital neutropenia 2017-07-05 -9.0 0.5 Benign/Likely benign 0 -259699 Simple 34631763 T . Benign 2 3 Severe congenital neutropenia 2, autosomal dominant;not specified;Severe congenital neutropenia 2017-07-24 -18.0 0.6666666666666666 Benign/Likely benign 1 -259702 Simple 143913803 A . Benign/Likely benign 2 3 Severe congenital neutropenia 2, autosomal dominant;not specified;Severe congenital neutropenia 2017-06-21 -11.7 1.0 Benign/Likely benign 0 -259703 Simple 149914857 C . Likely benign 2 3 Severe congenital neutropenia 2, autosomal dominant;not specified;Severe congenital neutropenia 2017-05-30 -9.0 0.6666666666666666 Benign/Likely benign 1 -259704 Simple 114464352 C . Benign 2 2 Severe congenital neutropenia 2, autosomal dominant;not specified;Severe congenital neutropenia 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -259705 Simple 6666973 G . Benign/Likely benign 2 2 Severe congenital neutropenia 2, autosomal dominant;not specified 2017-08-07 -8.7 1.0 Benign/Likely benign 0 -259707 Simple 3766503 T . Benign 2 3 Cataract 1;not specified;Zonular Pulverulent Cataract 2017-03-14 -18.0 0.6666666666666666 Benign/Likely benign 1 -259708 Simple 112131051 A . Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -259713 Simple 190309269 T . Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -259719 Simple 61732852 A . Benign/Likely benign 2 2 Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome;Holoprosencephaly 2017-01-18 -9.0 1.0 Benign/Likely benign 0 -259720 Simple 61732850 A . Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -259721 Simple 13008360 T . Benign/Likely benign 2 3 not specified;Holoprosencephaly 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -259722 Simple 146059306 G . Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -259728 Simple 115052795 A . Benign/Likely benign 2 3 Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome;Holoprosencephaly 2016-12-02 -15.0 1.0 Benign/Likely benign 0 -259735 Simple 142793481 T . Benign/Likely benign 2 2 not specified;Holoprosencephaly 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259736 Simple 2592595 A . Benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -259737 Simple 146992756 T . Benign/Likely benign 2 1 not specified;not provided 2017-06-12 . 0.0 . 0 -259738 Simple 149894186 G . Benign/Likely benign 2 3 Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome;Holoprosencephaly 2016-12-02 -15.0 1.0 Benign/Likely benign 0 -259740 Simple 139579928 T . Benign/Likely benign 2 2 not specified;Hyperinsulinism, Dominant;Monogenic diabetes 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -259742 Simple 2304355 C . Benign/Likely benign 2 1 Achromatopsia;not specified 2016-06-14 . 1.0 . 0 -259743 Simple 3738766 T . Benign/Likely benign 2 1 Achromatopsia;not specified 2016-06-14 . 1.0 . 0 -259744 Simple 1799875 T . Benign 2 1 Achromatopsia;not specified 2016-06-14 . 1.0 . 0 -259745 Simple 4696 G . Benign 2 1 not specified 2016-01-06 . 2.0 . 0 -259747 Simple 200945755 A . Benign 3 2 Costello syndrome;not specified;Rasopathy 2017-04-18 -12.6 0.0 Benign/Likely benign 1 -259748 Simple 777038147 T . Likely benign 2 1 Costello syndrome;not specified 2016-03-29 . 1.0 . 0 -259755 Simple 139486615 T . Likely benign 2 1 not specified 2016-03-01 . 2.0 . 0 -259757 Simple 149625825 A . Benign/Likely benign 2 3 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;not specified 2017-03-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -259758 Simple 143457144 T . Likely benign 2 3 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -259762 Simple 191012035 T . Likely benign 2 1 not specified 2016-06-09 . 1.0 . 0 -259773 Simple 112064937 A . Benign/Likely benign 2 2 not specified;Ovarian Dysgenesis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259774 Simple 113099187 C . Benign/Likely benign 2 2 not specified;Ovarian Dysgenesis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259775 Simple 371124071 TCTTCT . Benign 2 1 not specified;Ovarian Dysgenesis 2016-06-14 . 1.0 . 0 -259777 Simple 17003221 T . Benign 2 2 not specified;Ovarian Dysgenesis 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -259778 Simple 2270676 G . Benign/Likely benign 2 2 Brugada syndrome;not specified;Cardiovascular phenotype 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259780 Simple 2228380 T . Benign 2 1 Progressive myoclonic epilepsy;not specified 2017-08-03 . 0.0 . 0 -259781 Simple 199895330 G . Benign 2 2 Progressive myoclonic epilepsy;not specified 2016-05-08 -11.4 1.5 Benign/Likely benign 1 -259783 Simple 62640910 T . Benign/Likely benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -259784 Simple 2296303 C . Benign/Likely benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -259785 Simple 647347 G . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -259786 Simple 1047981 A . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -259787 Simple 2274980 T . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -259788 Simple 587281 T . Benign/Likely benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -259789 Simple 1129723 T . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -259790 Simple 1047980 G . Benign 2 1 Epidermolysis bullosa, junctional;not specified 2016-06-14 . 1.0 . 0 -259791 Simple 33926449 G . Benign/Likely benign 2 1 Combined deficiency of factor V and factor VIII, 1;not specified 2016-06-14 . 1.0 . 0 -259792 Simple 2298711 A . Benign/Likely benign 2 1 Combined deficiency of factor V and factor VIII, 1;not specified 2016-06-14 . 1.0 . 0 -259795 Simple 1127220 C . Benign/Likely benign 2 1 Combined deficiency of factor V and factor VIII, 1;not specified 2016-06-14 . 1.0 . 0 -259797 Simple 3835325 - . Benign/Likely benign 2 1 Combined deficiency of factor V and factor VIII, 1;not specified 2016-06-14 . 1.0 . 0 -259802 Simple 373118888 C . Likely benign 2 1 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 2017-07-25 . 0.0 . 0 -259806 Simple 55963442 G . Benign 2 3 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 2017-08-07 -18.0 0.6666666666666666 Benign/Likely benign 1 -259808 Simple 71501643 C . Benign 2 1 not specified 2016-05-27 . 1.0 . 0 -259814 Simple 34255016 A . Benign 2 1 not specified 2016-10-13 . 1.0 . 0 -259816 Simple 3745078 C . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259817 Simple 35470719 G . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259818 Simple 3745079 C . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259819 Simple 35623014 T . Benign/Likely benign 2 1 not specified 2017-05-22 . 0.0 . 0 -259820 Simple 12968116 T . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259821 Simple 117182648 A . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259822 Simple 34027711 A . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259823 Simple 12958967 A . Benign 2 3 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -16.8 1.6666666666666667 Benign/Likely benign 1 -259824 Simple 35953143 T . Benign 2 1 not specified 2016-05-09 . 1.0 . 0 -259825 Simple 2271771 T . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -259826 Simple 319438 G . Benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -259827 Simple 319439 A . Benign 2 1 not specified 2015-12-02 . 2.0 . 0 -259828 Simple 319443 G . Benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -259831 Simple 886038565 G . Likely benign 2 1 not specified 2016-02-08 . 2.0 . 0 -259832 Simple 571976523 - . Benign/Likely benign 2 1 not specified 2017-07-03 . 0.0 . 0 -259836 Simple 61884454 A . Benign 2 1 not specified 2016-01-29 . 2.0 . 0 -259849 Simple 200529572 T . Likely benign 2 1 not specified 2016-06-29 . 1.0 . 0 -259850 Simple 116373583 T . Benign/Likely benign 2 2 Endplate acetylcholinesterase deficiency;not specified 2017-06-12 -11.4 1.0 Benign/Likely benign 0 -259855 Simple 73818504 T . Benign/Likely benign 2 2 Endplate acetylcholinesterase deficiency;not specified;Congenital Myasthenic Syndrome, Recessive 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -259861 Simple 57376327 C . Benign/Likely benign 2 2 not specified;Congenital Myasthenic Syndrome, Recessive 2016-09-20 -9.0 1.0 Benign/Likely benign 0 -259867 Simple 12599906 T . Benign 2 1 not specified 2015-08-06 . 2.0 . 0 -259884 Simple 706584 C . Benign/Likely benign 2 1 Congenital disorder of glycosylation;not specified 2016-06-14 . 1.0 . 0 -259890 Simple 61741819 A . Benign/Likely benign 2 1 Obesity;not specified 2016-06-14 . 1.0 . 0 -259891 Simple 1872929 C . Benign 2 1 not specified;Congenital Bile Acid Synthesis Defect 2016-06-14 . 1.0 . 0 -259894 Simple 17169518 A . Benign/Likely benign 2 1 not specified;Congenital Bile Acid Synthesis Defect 2016-06-14 . 1.0 . 0 -259898 Simple 144030395 T . Likely benign 2 1 not specified 2015-12-14 . 2.0 . 0 -259902 Simple 10033086 A . Benign/Likely benign 2 4 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -259904 Simple 10033189 A . Benign/Likely benign 2 4 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -259905 Simple 4698436 T . Benign/Likely benign 2 4 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -259906 Simple 2078622 T . Benign 2 4 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -24.0 1.0 Benign 0 -259907 Simple 2286455 T . Benign/Likely benign 2 4 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -259908 Simple 79580851 G . Benign 2 1 not specified;Nemaline myopathy 9 2017-06-06 . 0.0 . 0 -259909 Simple 34623017 G . Benign/Likely benign 2 2 not specified;not provided;Nemaline myopathy 9 2017-08-09 -9.0 0.0 Benign/Likely benign 0 -259910 Simple 76875207 C . Benign 2 1 not specified;Nemaline myopathy 9 2017-07-19 . 0.0 . 0 -259912 Simple 139415849 G . Benign 2 1 not specified;Nemaline myopathy 9 2017-07-20 . 0.0 . 0 -259913 Simple 28730867 T . Benign 2 1 not specified;Nemaline myopathy 9 2017-07-31 . 0.0 . 0 -259914 Simple 3813328 A . Benign 2 1 not specified 2016-09-22 . 1.0 . 0 -259915 Simple 7754205 T . Benign 2 1 not specified 2016-09-21 . 1.0 . 0 -259916 Simple 2272653 G . Benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -259917 Simple 13796 C . Benign/Likely benign 2 1 not specified;Severe congenital neutropenia 2016-06-14 . 1.0 . 0 -259919 Simple 115683875 T . Likely benign 2 1 not specified;Severe congenital neutropenia 2016-06-14 . 1.0 . 0 -259922 Simple 61099902 G . Benign 2 3 Popliteal pterygium syndrome;Van der Woude syndrome;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259923 Simple 7552506 C . Benign 2 1 Van der Woude syndrome;not specified 2016-06-14 . 1.0 . 0 -259925 Simple 2013162 A . Benign 2 3 Popliteal pterygium syndrome;Van der Woude syndrome;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259927 Simple 41303263 G . Likely benign 2 3 Popliteal pterygium syndrome;Van der Woude syndrome;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -259928 Simple 2235371 T . Benign 2 3 Popliteal pterygium syndrome;Van der Woude syndrome;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259929 Simple 2298258 G . Benign/Likely benign 2 1 not specified;Spondyloepimetaphyseal dysplasia 2016-06-14 . 1.0 . 0 -259937 Simple 4904210 C . Benign/Likely benign 2 1 not specified;Selective tooth agenesis 2016-06-14 . 1.0 . 0 -259938 Simple 714550 A . Benign 2 2 Achromatopsia;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259940 Simple 616522 G . Benign 2 2 Achromatopsia;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259941 Simple 11187564 T . Benign/Likely benign 2 2 Achromatopsia;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -259942 Simple 3737228 G . Benign/Likely benign 2 2 Achromatopsia;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -259943 Simple 1409332 A . Benign 2 2 Achromatopsia;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259947 Simple 701865 A . Benign 2 2 Achromatopsia;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259949 Simple 1873778 G . Benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259950 Simple 10028020 A . Benign 2 2 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259951 Simple 2228230 T . Benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -259953 Simple 7685117 C . Benign 2 2 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259954 Simple 55947416 T . Benign/Likely benign 2 2 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -259955 Simple 2229307 C . Benign 2 2 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259956 Simple 4358459 G . Benign 2 2 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -259958 Simple 201108344 T . Likely benign 2 1 not specified;Cowden syndrome 2016-06-27 . 1.0 . 0 -259960 Simple 201193059 A . Benign/Likely benign 2 1 not specified;Cowden syndrome 2017-06-06 . 0.0 . 0 -259966 Simple 111572459 A . Benign/Likely benign 2 2 Congenital dyserythropoietic anemia, type II;not specified;not provided;Cowden syndrome 7 2017-07-10 -9.0 0.5 Benign/Likely benign 0 -259968 Simple 1135127 G . Benign 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -259969 Simple 1135128 A . Benign 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -259971 Simple 11554400 G . Benign/Likely benign 2 2 Aicardi Goutieres syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -259972 Simple 7257575 A . Benign/Likely benign 2 3 Aicardi Goutieres syndrome 4;Aicardi Goutieres syndrome;not specified 2017-08-21 -15.0 0.6666666666666666 Benign/Likely benign 0 -259973 Simple 7247253 C . Benign/Likely benign 2 2 Aicardi Goutieres syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -259974 Simple 7247284 C . Benign/Likely benign 2 3 Aicardi Goutieres syndrome 4;Aicardi Goutieres syndrome;not specified 2017-08-21 -15.0 0.6666666666666666 Benign/Likely benign 0 -259976 Simple 73668354 A . Benign/Likely benign 2 1 Berardinelli-Seip congenital lipodystrophy;not specified 2016-06-14 . 1.0 . 0 -259977 Simple 768646064 CAGCAG . Benign/Likely benign 2 1 Berardinelli-Seip congenital lipodystrophy;not specified 2016-06-14 . 1.0 . 0 -259984 Simple 4149057 C . Benign 2 2 Rotor syndrome;not specified 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -259985 Simple 2291075 T . Benign 2 2 Rotor syndrome;not specified 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -259987 Simple 3734690 A . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -259988 Simple 9333555 G . Benign/Likely benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -259989 Simple 6941583 T . Benign 2 1 Xeroderma pigmentosum;not specified 2016-06-14 . 1.0 . 0 -259991 Simple 62244070 T . Benign 2 1 not specified 2016-09-22 . 1.0 . 0 -259992 Simple 7617919 A . Benign 2 1 not specified 2016-09-23 . 1.0 . 0 -259993 Simple 6599250 C . Benign 2 1 not specified 2016-09-06 . 1.0 . 0 -259994 Simple 59468016 A . Benign 2 1 not specified 2016-09-23 . 1.0 . 0 -259995 Simple 6791171 T . Benign 2 1 not specified 2016-09-26 . 1.0 . 0 -259996 Simple 6795970 G . Benign 2 1 not specified 2016-09-22 . 1.0 . 0 -259997 Simple 12632942 G . Benign 2 1 not specified 2016-09-23 . 1.0 . 0 -259998 Simple 6771157 C . Benign 2 1 not specified 2016-09-22 . 1.0 . 0 -259999 Simple 6599241 C . Benign 2 1 not specified 2016-09-06 . 1.0 . 0 -260000 Simple 7641844 G . Benign 2 1 not specified 2016-09-21 . 1.0 . 0 -260001 Simple 2072597 G . Benign 2 2 not specified;Congenital dyserythropoietic anemia 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260002 Simple 73718082 T . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 14 2017-07-20 -11.4 1.0 Benign/Likely benign 1 -260004 Simple 1491994 C . Benign 2 1 Primary hypomagnesemia;not specified 2016-06-14 . 1.0 . 0 -260005 Simple 3904682 A . Benign 2 2 Bardet-Biedl syndrome;Renal dysplasia and retinal aplasia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260006 Simple 2275155 T . Benign 2 3 Bardet-Biedl syndrome;Renal dysplasia and retinal aplasia;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -260009 Simple 10927011 A . Benign 2 2 Bardet-Biedl syndrome;Renal dysplasia and retinal aplasia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260013 Simple 976529 T . Benign/Likely benign 2 3 Bardet-Biedl syndrome;Senior-Loken syndrome 7;Renal dysplasia and retinal aplasia;Bardet-Biedl syndrome 16;not specified 2017-05-08 -12.0 0.6666666666666666 Benign/Likely benign 0 -260017 Simple 149248373 A . Benign/Likely benign 2 3 Floating-Harbor syndrome;not specified;not provided 2017-01-26 -15.0 1.0 Benign/Likely benign 0 -260020 Simple 117480926 G . Benign/Likely benign 2 2 Floating-Harbor syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -260023 Simple 147535560 T . Likely benign 2 2 Arthrogryposis multiplex congenita;Arthrogryposis multiplex congenita distal;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -260027 Simple 76471485 C . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita;Arthrogryposis multiplex congenita distal;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -260030 Simple 143255528 C . Likely benign 2 2 Arthrogryposis multiplex congenita;Arthrogryposis multiplex congenita distal;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -260037 Simple 375308029 A . Benign/Likely benign 2 1 not specified 2016-01-05 . 2.0 . 0 -260040 Simple 138678049 C . Benign/Likely benign 2 3 Myotilinopathy;not specified 2017-03-30 -14.4 1.0 Benign/Likely benign 0 -260041 Simple 1422991 T . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260042 Simple 2303062 G . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260043 Simple 2303063 A . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260045 Simple 17107741 A . Benign/Likely benign 2 2 Netherton syndrome;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -260046 Simple 6896303 G . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260047 Simple 880687 A . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260048 Simple 3752677 T . Benign/Likely benign 2 1 Netherton syndrome;not specified 2016-06-14 . 1.0 . 0 -260049 Simple 3777134 A . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260050 Simple 17704908 T . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260051 Simple 33920397 T . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260052 Simple 28408445 G . Benign/Likely benign 2 2 Netherton syndrome;not specified 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -260053 Simple 180955184 A . Benign/Likely benign 2 1 Netherton syndrome;not specified 2016-06-14 . 1.0 . 0 -260054 Simple 58888156 C . Benign/Likely benign 2 2 Netherton syndrome;not specified 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -260055 Simple 2400478 C . Benign 2 2 Netherton syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260057 Simple 11537930 T . Benign 2 1 not specified 2016-01-20 . 2.0 . 0 -260059 Simple 2305429 G . Benign 2 1 not specified;Cataract 2016-06-14 . 1.0 . 0 -260061 Simple 2305430 C . Benign 2 1 not specified;Cataract 2016-06-14 . 1.0 . 0 -260062 Simple 2242074 G . Benign 2 1 not specified;Cataract 2016-06-14 . 1.0 . 0 -260073 Simple 1800822 T . Benign 2 1 Trimethylaminuria;not specified 2016-06-14 . 1.0 . 0 -260076 Simple 2066534 G . Benign 2 1 Trimethylaminuria;not specified 2016-06-14 . 1.0 . 0 -260077 Simple 2066530 C . Benign/Likely benign 2 1 Trimethylaminuria;not specified 2016-06-14 . 1.0 . 0 -260078 Simple 909530 T . Benign 2 1 Trimethylaminuria;not specified 2016-06-14 . 1.0 . 0 -260080 Simple 28464386 A . Benign/Likely benign 2 2 Familial hemophagocytic lymphohistiocytosis;not specified;not provided 2016-09-23 -9.0 1.0 Benign/Likely benign 0 -260084 Simple 139160342 T . Benign/Likely benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 5;not specified 2017-05-26 . 0.0 . 0 -260086 Simple 61407177 T . Benign/Likely benign 2 2 Hemophagocytic lymphohistiocytosis, familial, 5;Familial hemophagocytic lymphohistiocytosis;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -260089 Simple 10001 C . Benign 2 2 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260090 Simple 139200597 T . Likely benign 2 1 not specified 2016-03-31 . 1.0 . 0 -260094 Simple 6791 G . Benign 2 2 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260095 Simple 61736589 A . Benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 5;not specified 2017-07-12 . 0.0 . 0 -260096 Simple 11538945 T . Likely benign 2 1 not specified 2015-11-12 . 2.0 . 0 -260097 Simple 61736586 G . Benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 5;not specified 2017-07-25 . 0.0 . 0 -260104 Simple 8104339 T . Benign 2 2 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260105 Simple 2303116 T . Benign/Likely benign 2 2 Hemophagocytic lymphohistiocytosis, familial, 5;Familial hemophagocytic lymphohistiocytosis;not specified 2017-07-15 -9.0 0.5 Benign/Likely benign 0 -260107 Simple 113694233 T . Benign/Likely benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 5;not specified 2017-07-19 . 0.0 . 0 -260109 Simple 78010345 T . Benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 5;not specified 2017-06-16 . 0.0 . 0 -260119 Simple 11272867 ACAGTACACAAACAGTACACAA . Benign 2 2 not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260122 Simple 144304208 C . Benign/Likely benign 2 2 not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -260124 Simple 684562 C . Benign 2 3 not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-07-21 -18.0 0.6666666666666666 Benign/Likely benign 1 -260125 Simple 142577424 C . Benign/Likely benign 2 3 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-06-27 -12.0 0.6666666666666666 Benign/Likely benign 0 -260128 Simple 514492 T . Benign 2 3 not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-07-21 -18.0 0.6666666666666666 Benign/Likely benign 1 -260135 Simple 2306056 A . Benign 2 1 Brugada syndrome;not specified 2017-08-01 . 0.0 . 0 -260136 Simple 3739495 C . Benign 2 1 not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -260141 Simple 115243626 C . Likely benign 2 1 not specified 2017-05-05 . 0.0 . 0 -260147 Simple 138171526 T . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-05-18 -18.0 0.5 Benign/Likely benign 0 -260150 Simple 369000699 T . Likely benign 2 1 not specified 2016-11-10 . 1.0 . 0 -260153 Simple 61733388 A . Benign/Likely benign 2 1 not specified;Polycystic liver disease 2016-06-14 . 1.0 . 0 -260154 Simple 70937066 AA . Benign 2 1 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 . 1.0 . 0 -260155 Simple 192850081 C . Likely benign 2 1 not specified 2016-09-23 . 1.0 . 0 -260156 Simple 497078 T . Benign 2 2 Hereditary pancreatitis;not specified 2016-10-31 -12.0 1.0 Benign/Likely benign 1 -260157 Simple 41307798 T . Benign/Likely benign 2 3 Hereditary pancreatitis;not specified 2017-07-26 -15.0 0.6666666666666666 Benign/Likely benign 0 -260158 Simple 34949635 G . Benign 2 3 Hereditary pancreatitis;not specified 2017-07-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -260163 Simple 33912345 A . Benign 2 1 not specified;Anophthalmia - microphthalmia 2016-06-14 . 1.0 . 0 -260165 Simple 10844308 C . Benign 2 1 not specified;Lethal Encephalopathy 2016-06-14 . 1.0 . 0 -260167 Simple 2272238 A . Benign 2 1 not specified;Lethal Encephalopathy 2016-06-14 . 1.0 . 0 -260168 Simple 10844318 G . Benign 2 1 not specified;Lethal Encephalopathy 2016-06-14 . 1.0 . 0 -260169 Simple 74641138 T . Benign/Likely benign 2 2 not specified;Cataract 15, multiple types;Cataract 2017-02-13 -9.0 1.0 Benign/Likely benign 0 -260172 Simple 16873732 C . Benign 2 1 not specified;46,XY sex reversal 9 2017-07-09 . 0.0 . 0 -260174 Simple 2920048 C . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -260175 Simple 35998713 G . Benign 2 1 not specified;46,XY sex reversal 9 2017-07-09 . 0.0 . 0 -260176 Simple 1442320 C . Benign 2 1 not specified;46,XY sex reversal 9 2017-07-09 . 0.0 . 0 -260177 Simple 3735953 T . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -260179 Simple 182216711 C . Benign/Likely benign 2 1 not specified;46,XY sex reversal 9 2017-01-30 . 1.0 . 0 -260180 Simple 138727736 G . Benign/Likely benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -260181 Simple 2039503 T . Benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -260186 Simple 77917916 T . Benign/Likely benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -260188 Simple 116754410 G . Benign/Likely benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -260189 Simple 7749045 G . Benign/Likely benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -260191 Simple 140627775 T . Benign/Likely benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -260193 Simple 76153148 A . Benign/Likely benign 2 1 Focal segmental glomerulosclerosis;not specified 2016-06-14 . 1.0 . 0 -260207 Simple 34316889 T . Benign 2 2 not specified;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 -11.4 1.0 Benign/Likely benign 1 -260208 Simple 11537982 T . Benign 2 2 not specified;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 -11.4 1.0 Benign/Likely benign 1 -260209 Simple 1011676 A . Benign 2 2 not specified;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 -11.4 1.0 Benign/Likely benign 1 -260210 Simple 181190356 A . Benign 2 1 not specified 2016-01-11 . 2.0 . 0 -260211 Simple 145081583 A . Benign 2 1 not specified 2016-04-12 . 1.0 . 0 -260212 Simple 10063424 C . Benign 2 2 Pendred's syndrome;not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260221 Simple 73178792 T . Benign 2 1 Anterior segment dysgenesis 7;not specified 2017-06-20 . 0.0 . 0 -260222 Simple 1863134 A . Benign 2 1 Anterior segment dysgenesis 7;not specified 2017-06-20 . 0.0 . 0 -260225 Simple 6752525 A . Benign 2 1 Anterior segment dysgenesis 7;not specified 2017-06-20 . 0.0 . 0 -260226 Simple 115076385 A . Benign 2 1 Anterior segment dysgenesis 7;not specified 2017-04-04 . 0.0 . 0 -260237 Simple 201769534 - . Benign 2 2 Genitopatellar syndrome;not specified;not provided 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -260243 Simple 544824146 - . Benign/Likely benign 2 2 not specified;not provided;KAT6B-Related Spectrum Disorders 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -260244 Simple 375513122 AAGAGGAAGAAGAGGAAG . Benign/Likely benign 2 1 not specified;not provided 2016-09-01 . 1.0 . 0 -260245 Simple 3740322 T . Benign 2 2 not specified;KAT6B-Related Spectrum Disorders 2016-10-05 -12.0 1.0 Benign/Likely benign 1 -260246 Simple 3740321 A . Benign 2 2 not specified;KAT6B-Related Spectrum Disorders 2016-10-05 -12.0 1.0 Benign/Likely benign 1 -260250 Simple 192237531 T . Benign/Likely benign 2 1 not specified;KAT6B-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -260253 Simple 41623 A . Benign 2 1 not specified;Familial exudative vitreoretinopathy 2016-06-14 . 1.0 . 0 -260258 Simple 35062843 C . Benign/Likely benign 2 3 Common variable immunodeficiency 2;not specified;Common Variable Immune Deficiency, Dominant 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -260259 Simple 11078355 G . Benign 2 3 not specified;Common Variable Immune Deficiency, Dominant 2016-12-08 -18.0 1.0 Benign/Likely benign 1 -260261 Simple 112438598 C . Benign 2 1 not specified 2016-02-23 . 2.0 . 0 -260262 Simple 2293493 A . Benign 2 1 not specified 2016-02-26 . 2.0 . 0 -260263 Simple 142359170 G . Benign/Likely benign 2 2 not specified 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -260264 Simple 11538884 T . Benign 2 1 not specified 2016-02-26 . 2.0 . 0 -260265 Simple 8043 A . Benign 2 1 not specified 2016-01-07 . 2.0 . 0 -260266 Simple 17424179 A . Benign 2 1 not specified 2016-01-19 . 2.0 . 0 -260268 Simple 2305324 C . Benign 2 1 not specified 2016-01-07 . 2.0 . 0 -260272 Simple 78620801 G . Benign 2 1 not specified;Ciliary dyskinesia, primary, 19 2017-07-20 . 0.0 . 0 -260274 Simple 9297853 G . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-06-14 . 1.0 . 0 -260275 Simple 74599901 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified;Ciliary dyskinesia, primary, 19 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -260277 Simple 35956157 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified;Ciliary dyskinesia, primary, 19 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -260278 Simple 2293979 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260279 Simple 113135637 C . Benign/Likely benign 2 1 not specified;not provided 2017-08-28 . 0.0 . 0 -260281 Simple 12028832 G . Benign 2 1 not specified 2016-03-14 . 1.0 . 0 -260284 Simple 11547261 A . Benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -260285 Simple 34345884 C . Benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2017-08-04 -11.4 1.0 Benign/Likely benign 1 -260286 Simple 191912441 T . Likely benign 2 2 not specified 2017-05-17 -5.7 1.0 Likely benign 0 -260292 Simple 142916824 A . Likely benign 2 1 not specified 2017-09-06 . 0.0 . 0 -260302 Simple 200104520 T . Likely benign 2 1 not specified 2017-10-12 . 0.0 . 0 -260303 Simple 11552115 A . Benign 2 2 Chronic granulomatous disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260306 Simple 10854695 A . Benign/Likely benign 2 2 Chronic granulomatous disease;Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III;not specified 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -260307 Simple 2072712 T . Benign/Likely benign 2 2 Chronic granulomatous disease;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -260308 Simple 2075939 C . Benign 2 2 Chronic granulomatous disease;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260309 Simple 2271733 T . Benign/Likely benign 2 1 not specified;Anophthalmia - microphthalmia 2016-06-14 . 1.0 . 0 -260310 Simple 7226481 C . Benign/Likely benign 2 1 not specified;Anophthalmia - microphthalmia 2016-06-14 . 1.0 . 0 -260311 Simple 45559331 A . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia;not specified;Amyotrophic Lateral Sclerosis, Dominant 2017-07-22 -15.0 0.6666666666666666 Benign/Likely benign 0 -260314 Simple 78268395 A . Benign/Likely benign 2 4 Frontotemporal dementia;not specified;not provided 2017-02-27 -21.0 1.0 Benign/Likely benign 0 -260315 Simple 269860 G . Benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260317 Simple 57659670 C . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260318 Simple 113400262 T . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260319 Simple 73406337 A . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260320 Simple 73406334 T . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260321 Simple 73406330 A . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260323 Simple 269868 A . Benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260324 Simple 269869 T . Benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260326 Simple 2001616 A . Benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260327 Simple 56323146 C . Benign/Likely benign 2 1 Congenital hypothyroidism;not specified 2016-06-14 . 1.0 . 0 -260329 Simple 35329862 AA . Benign 2 2 not specified;Trichorhinophalangeal Syndrome 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -260330 Simple 76046106 G . Benign 2 2 Trichorhinophalangeal syndrome type 3;Trichorhinophalangeal dysplasia type I;not specified;Trichorhinophalangeal Syndrome 2017-04-20 -12.0 0.5 Benign/Likely benign 1 -260332 Simple 201296334 T . Benign/Likely benign 2 1 not specified;Trichorhinophalangeal Syndrome 2016-06-14 . 1.0 . 0 -260333 Simple 7823278 A . Benign 2 2 Trichorhinophalangeal syndrome type 3;Trichorhinophalangeal dysplasia type I;not specified;Trichorhinophalangeal Syndrome 2017-04-20 -12.0 0.5 Benign/Likely benign 1 -260337 Simple 2066524 A . Benign/Likely benign 2 2 Schimke immunoosseous dysplasia;not specified 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -260339 Simple 2066526 T . Benign/Likely benign 2 2 Schimke immunoosseous dysplasia;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -260340 Simple 151241914 T . Benign/Likely benign 2 2 Schimke immunoosseous dysplasia;not specified 2017-06-21 -8.7 1.0 Benign/Likely benign 0 -260341 Simple 2066527 C . Benign/Likely benign 2 1 Schimke immunoosseous dysplasia;not specified 2016-06-14 . 1.0 . 0 -260347 Simple 146084305 G . Benign 2 1 Schimke immunoosseous dysplasia;not specified 2017-08-11 . 0.0 . 0 -260349 Simple 77706740 A . Benign/Likely benign 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome 2016-06-14 -6.0 1.0 Likely benign 1 -260353 Simple 2615489 A . Benign 2 1 not specified 2015-06-26 . 2.0 . 0 -260361 Simple 113480953 T . Benign/Likely benign 2 2 Rhizomelic chondrodysplasia punctata;not specified 2016-06-24 -9.0 1.0 Benign/Likely benign 0 -260362 Simple 6659098 G . Benign/Likely benign 2 1 Rhizomelic chondrodysplasia punctata;not specified 2016-06-14 . 1.0 . 0 -260363 Simple 574553 A . Benign 2 2 Rhizomelic chondrodysplasia punctata;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -260364 Simple 112087431 C . Likely benign 2 2 Leukoencephalopathy with vanishing white matter;Lynch syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -260370 Simple 2301629 C . Benign 2 2 Citrullinemia type I;Citrin deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260371 Simple 6957975 C . Benign 2 2 Citrullinemia type I;Citrin deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260372 Simple 78430478 G . Benign 2 1 not specified 2015-10-28 . 2.0 . 0 -260374 Simple 141536395 G . Benign 2 1 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2017-07-28 . 0.0 . 0 -260376 Simple 151288166 G . Benign 2 1 Cataract, autosomal recessive congenital 4;not specified 2017-06-27 . 0.0 . 0 -260382 Simple 1381532 G . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -260383 Simple 2045732 C . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -260384 Simple 7853578 G . Benign/Likely benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -260385 Simple 3810381 T . Benign 2 1 Ethylmalonic encephalopathy;not specified 2016-06-14 . 1.0 . 0 -260386 Simple 33994299 C . Benign 2 2 not specified;Meier-Gorlin syndrome;Parkinson Disease, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260389 Simple 17078720 C . Benign/Likely benign 2 1 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 . 1.0 . 0 -260391 Simple 17078601 C . Benign/Likely benign 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -260393 Simple 3751368 A . Benign/Likely benign 2 1 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 . 1.0 . 0 -260394 Simple 35840595 T . Benign/Likely benign 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia 2017-05-30 -9.0 0.5 Benign/Likely benign 0 -260401 Simple 41315020 C . Benign/Likely benign 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -260402 Simple 56323028 C . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2L;not specified;Distal hereditary motor neuronopathy;Charcot-Marie-Tooth, Type 2 2017-08-04 -18.0 0.5 Benign/Likely benign 0 -260403 Simple 4628742 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2L;not specified;Charcot-Marie-Tooth, Type 2 2017-07-27 -21.0 0.5 Benign/Likely benign 0 -260406 Simple 77465715 C . Benign 2 1 Nephronophthisis;not specified 2017-02-03 . 1.0 . 0 -260412 Simple 61147858 - . Benign 2 1 Nephronophthisis;not specified 2016-06-14 . 1.0 . 0 -260415 Simple 201018893 G . Benign/Likely benign 2 1 Nephronophthisis;not specified 2017-08-01 . 0.0 . 0 -260420 Simple 11568351 C . Benign 2 1 not specified;Hereditary hemochromatosis 2016-06-14 . 1.0 . 0 -260421 Simple 13008848 G . Benign 2 1 not specified;Hereditary hemochromatosis 2016-06-14 . 1.0 . 0 -260422 Simple 2304704 G . Benign 2 1 not specified;Hereditary hemochromatosis 2016-06-14 . 1.0 . 0 -260423 Simple 8123716 A . Benign 2 1 not specified;Posterior Polymorphous Corneal Dystrophy 2016-06-14 . 1.0 . 0 -260424 Simple 1079292 C . Benign 2 1 not specified;Steroid-resistant nephrotic syndrome 2016-06-14 . 1.0 . 0 -260425 Simple 3818587 C . Benign/Likely benign 2 2 Nephrotic syndrome, idiopathic, steroid-resistant;not specified;Steroid-resistant nephrotic syndrome 2017-04-29 -9.0 0.5 Benign/Likely benign 0 -260426 Simple 3738423 A . Benign/Likely benign 2 2 Nephrotic syndrome, idiopathic, steroid-resistant;not specified;Steroid-resistant nephrotic syndrome 2017-04-29 -9.0 0.5 Benign/Likely benign 0 -260427 Simple 542240453 TT . Likely benign 2 1 not specified 2016-12-02 . 1.0 . 0 -260432 Simple 1410592 A . Benign/Likely benign 2 1 not specified;Steroid-resistant nephrotic syndrome 2016-06-14 . 1.0 . 0 -260433 Simple 3745012 A . Benign 2 3 Majeed syndrome;not specified 2017-06-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -260436 Simple 9381231 C . Benign 2 1 Three M syndrome;not specified 2016-06-14 . 1.0 . 0 -260437 Simple 9394939 C . Benign 2 1 Three M syndrome;not specified 2016-06-14 . 1.0 . 0 -260438 Simple 4711738 A . Benign 2 1 Three M syndrome;not specified 2016-06-14 . 1.0 . 0 -260441 Simple 2273917 T . Benign 2 1 Three M syndrome;not specified 2016-06-14 . 1.0 . 0 -260444 Simple 114136062 T . Benign/Likely benign 2 2 not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2016-06-14 -6.0 1.0 Likely benign 1 -260446 Simple 199522051 A . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-05-01 -17.4 1.0 Benign/Likely benign 0 -260447 Simple 10499054 G . Benign 2 4 Amyotrophic lateral sclerosis type 11;Charcot-Marie-Tooth disease, type 4J;not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-04-28 -23.4 1.0 Benign/Likely benign 1 -260449 Simple 1127771 A . Benign 2 2 not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -260452 Simple 61729092 G . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-07-14 -14.7 1.0 Benign/Likely benign 0 -260453 Simple 41299222 C . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260454 Simple 3737056 T . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260455 Simple 115864032 C . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260457 Simple 12359281 C . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260459 Simple 149655759 G . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260460 Simple 138423863 - . Benign/Likely benign 2 2 not specified;Thrombocytopenia 2016-09-26 -9.0 1.0 Benign/Likely benign 0 -260462 Simple 75445709 T . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260463 Simple 61730098 C . Likely benign 2 1 not specified 2016-11-22 . 1.0 . 0 -260464 Simple 61745662 G . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260465 Simple 41299210 T . Benign/Likely benign 2 2 not specified;Thrombocytopenia 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -260466 Simple 12572862 G . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260467 Simple 10829163 T . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260468 Simple 72807627 C . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260469 Simple 78251061 T . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260470 Simple 2274741 T . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260472 Simple 7897309 C . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260473 Simple 2297145 C . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -260478 Simple 494553 T . Benign 2 1 not specified;Nephronophthisis 15 2017-08-07 . 0.0 . 0 -260483 Simple 693147 C . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -260486 Simple 61995733 T . Benign 2 1 not specified;Nephronophthisis 15 2017-05-07 . 0.0 . 0 -260487 Simple 115051850 T . Benign 2 1 not specified;Nephronophthisis 15 2017-05-07 . 0.0 . 0 -260488 Simple 61743854 G . Benign 2 1 not specified;Nephronophthisis 15 2017-05-07 . 0.0 . 0 -260489 Simple 73016324 T . Benign 2 1 not specified;Nephronophthisis 15 2017-08-07 . 0.0 . 0 -260494 Simple 77121218 A . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -260495 Simple 41265493 A . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -260496 Simple 41265501 T . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -260498 Simple 2815738 T . Benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -260499 Simple 116303981 A . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -260500 Simple 2249021 G . Benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -260501 Simple 116476753 T . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -260502 Simple 61742937 C . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant 2017-08-08 -15.0 0.3333333333333333 Benign/Likely benign 0 -260505 Simple 112089123 C . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-07-26 -12.0 0.6666666666666666 Benign/Likely benign 0 -260506 Simple 151237267 C . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -260510 Simple 73661157 T . Benign/Likely benign 2 2 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-06-14 -6.0 1.0 Likely benign 1 -260511 Simple 34073320 T . Benign/Likely benign 2 4 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-08-03 -18.0 0.5 Benign/Likely benign 0 -260514 Simple 17148873 G . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-04-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -260517 Simple 150673589 T . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-07-12 -12.0 0.6666666666666666 Benign/Likely benign 0 -260520 Simple 61747467 T . Benign 2 1 not specified;Nephronophthisis 14 2017-08-07 . 0.0 . 0 -260522 Simple 13336762 G . Benign 2 1 not specified;Nephronophthisis 14 2017-08-08 . 0.0 . 0 -260523 Simple 16947741 T . Benign 2 1 not specified;Nephronophthisis 14 2017-07-26 . 0.0 . 0 -260524 Simple 34214571 C . Benign 2 1 not specified;Nephronophthisis 14 2017-07-26 . 0.0 . 0 -260525 Simple 143934881 T . Benign/Likely benign 2 1 not specified;Nephronophthisis 14 2017-05-24 . 0.0 . 0 -260526 Simple 73565356 A . Benign 2 1 not specified;Nephronophthisis 14 2017-05-17 . 0.0 . 0 -260527 Simple 77996576 A . Benign 2 1 not specified;Nephronophthisis 14 2017-08-12 . 0.0 . 0 -260528 Simple 12599354 T . Benign 2 1 not specified;Nephronophthisis 14 2017-08-15 . 0.0 . 0 -260531 Simple 117266679 A . Benign/Likely benign 2 1 not specified;Nephronophthisis 14 2017-01-27 . 1.0 . 0 -260532 Simple 111229124 A . Benign/Likely benign 2 2 not specified;Nephronophthisis 14;not provided 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -260533 Simple 79706004 T . Benign 2 1 not specified;Nephronophthisis 14 2017-05-17 . 0.0 . 0 -260534 Simple 113531514 T . Benign 2 1 not specified;Nephronophthisis 14 2017-05-16 . 0.0 . 0 -260535 Simple 147898137 T . Benign 2 2 not specified;Nephronophthisis 14 2017-01-20 -12.0 1.0 Benign/Likely benign 1 -260537 Simple 78514142 A . Benign 2 1 not specified;Nephronophthisis 14 2017-08-07 . 0.0 . 0 -260541 Simple 138324955 - . Benign/Likely benign 2 5 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-07-31 -19.8 1.2 Benign/Likely benign 0 -260543 Simple 12116997 A . Benign/Likely benign 2 2 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -260545 Simple 12093500 C . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-04-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -260550 Simple 184961418 T . Benign 2 2 Nephronophthisis;not specified 2017-08-15 -11.4 1.0 Benign/Likely benign 1 -260561 Simple 12142270 A . Benign/Likely benign 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-05-16 -12.0 0.6666666666666666 Benign/Likely benign 0 -260563 Simple 886038612 C . Benign 2 1 Alstrom syndrome;not specified 2016-06-14 . 1.0 . 0 -260564 Simple 886038613 A . Benign/Likely benign 2 1 Alstrom syndrome;not specified 2016-06-14 . 1.0 . 0 -260565 Simple 886038614 G . Benign 2 1 Alstrom syndrome;not specified 2016-06-14 . 1.0 . 0 -260567 Simple 886038615 A . Benign/Likely benign 2 1 Alstrom syndrome;not specified 2016-06-14 . 1.0 . 0 -260571 Simple 9835387 T . Benign/Likely benign 2 2 Brugada syndrome;not specified;Cardiovascular phenotype 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -260572 Simple 2072873 C . Benign/Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -260577 Simple 17079425 A . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260578 Simple 115611407 A . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260579 Simple 11720139 G . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260580 Simple 12489851 T . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260582 Simple 2305634 T . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260583 Simple 2305635 A . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260584 Simple 11928558 T . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260586 Simple 1079276 G . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260587 Simple 2305637 T . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260591 Simple 3816531 C . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260592 Simple 74418680 G . Benign 2 1 Gray platelet syndrome;not specified 2016-06-14 . 1.0 . 0 -260595 Simple 79284104 T . Benign/Likely benign 2 1 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 . 1.0 . 0 -260610 Simple 559978421 - . Benign/Likely benign 2 1 not specified 2015-04-30 . 2.0 . 0 -260614 Simple 41270349 T . Benign 2 1 not specified 2017-01-08 . 1.0 . 0 -260615 Simple 114863461 A . Benign 2 1 not specified 2016-11-30 . 1.0 . 0 -260616 Simple 147797700 A . Benign 2 1 not specified 2017-01-08 . 1.0 . 0 -260617 Simple 12129487 G . Benign 2 1 not specified 2017-01-16 . 1.0 . 0 -260618 Simple 114759137 G . Benign 2 1 not specified 2016-11-30 . 1.0 . 0 -260621 Simple 112461557 G . Benign/Likely benign 2 1 not specified 2016-11-30 . 1.0 . 0 -260624 Simple 78858677 C . Benign/Likely benign 2 2 not specified 2017-05-05 -9.0 0.5 Benign/Likely benign 0 -260629 Simple 117771893 G . Benign/Likely benign 2 1 not specified 2015-09-07 . 2.0 . 0 -260632 Simple 2430853 C . Benign 2 1 not specified 2016-03-23 . 1.0 . 0 -260634 Simple 145755468 T . Benign/Likely benign 2 2 Facioscapulohumeral muscular dystrophy 2;not specified 2017-05-08 -11.4 1.0 Benign/Likely benign 0 -260638 Simple 113524119 T . Benign/Likely benign 2 2 Facioscapulohumeral muscular dystrophy 2;not specified 2017-07-27 -11.4 1.0 Benign/Likely benign 0 -260641 Simple 9961682 G . Benign 2 1 Facioscapulohumeral muscular dystrophy 2;not specified 2017-07-12 . 0.0 . 0 -260644 Simple 115632137 T . Benign 2 1 Facioscapulohumeral muscular dystrophy 2;not specified 2017-07-12 . 0.0 . 0 -260646 Simple 7239096 C . Benign 2 1 Facioscapulohumeral muscular dystrophy 2;not specified 2017-07-12 . 0.0 . 0 -260647 Simple 117794949 T . Benign 2 3 Facioscapulohumeral muscular dystrophy 2;not specified 2017-07-31 -17.4 1.0 Benign/Likely benign 1 -260662 Simple 34014804 A . Benign 2 3 Paroxysmal choreoathetosis;not specified 2017-08-16 -18.0 0.3333333333333333 Benign/Likely benign 1 -260663 Simple 370963150 T . Likely benign 2 1 Paroxysmal choreoathetosis;not specified 2016-06-14 . 1.0 . 0 -260665 Simple 35219601 G . Likely benign 2 1 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 . 1.0 . 0 -260668 Simple 367982164 G . Likely benign 2 1 not specified 2016-03-31 . 1.0 . 0 -260669 Simple 11188434 A . Benign 2 1 not specified 2016-01-08 . 2.0 . 0 -260671 Simple 73980038 A . Benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-02-02 -12.0 1.0 Benign/Likely benign 1 -260675 Simple 4924987 A . Benign 2 1 not specified 2016-01-08 . 2.0 . 0 -260680 Simple 2421862 A . Benign/Likely benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -260682 Simple 200557033 T . Benign/Likely benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -260683 Simple 17617459 T . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-15 -9.0 0.5 Benign/Likely benign 0 -260685 Simple 566204 A . Benign 2 2 Charcot-Marie-Tooth disease, type 4B1;not specified;Charcot-Marie-Tooth, Type 4 2017-06-02 -12.0 0.5 Benign/Likely benign 1 -260686 Simple 3824874 G . Benign 2 2 Charcot-Marie-Tooth disease, type 4B1;not specified;Charcot-Marie-Tooth, Type 4 2017-06-02 -12.0 0.5 Benign/Likely benign 1 -260687 Simple 17114803 C . Benign/Likely benign 2 2 Medulloblastoma;not specified;Hereditary cancer-predisposing syndrome 2016-12-09 -9.0 1.0 Benign/Likely benign 0 -260692 Simple 66628686 A . Benign/Likely benign 2 3 Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -260711 Simple 17508082 A . Benign/Likely benign 2 2 not specified;Nephrotic syndrome 2017-03-20 -6.0 0.5 Likely benign 1 -260712 Simple 17417407 T . Benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260715 Simple 61751496 A . Benign/Likely benign 2 2 not specified;Nephrotic syndrome 2016-11-11 -9.0 1.0 Benign/Likely benign 0 -260717 Simple 61732522 T . Benign/Likely benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260718 Simple 61751499 T . Benign/Likely benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260719 Simple 41291134 A . Benign/Likely benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260720 Simple 2274224 C . Benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260722 Simple 3736901 A . Benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260724 Simple 3765524 T . Benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260725 Simple 17516758 A . Benign/Likely benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260726 Simple 58539480 T . Benign/Likely benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260728 Simple 2274223 G . Benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260729 Simple 942676 G . Benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260730 Simple 75283731 A . Benign/Likely benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260733 Simple 17109671 C . Benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260734 Simple 17109674 A . Benign 2 1 not specified;Nephrotic syndrome 2016-06-14 . 1.0 . 0 -260735 Simple 11545028 T . Benign 2 1 not specified 2016-01-06 . 2.0 . 0 -260736 Simple 66481974 C . Benign 2 1 not specified 2016-01-14 . 2.0 . 0 -260737 Simple 67493355 T . Benign 2 1 not specified 2016-01-06 . 2.0 . 0 -260738 Simple 12934985 C . Benign 2 1 not specified 2016-01-06 . 2.0 . 0 -260739 Simple 2303191 C . Benign 2 1 not specified 2016-01-07 . 2.0 . 0 -260740 Simple 11545029 A . Benign 2 1 not specified 2016-01-06 . 2.0 . 0 -260741 Simple 74944733 A . Benign 2 3 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-08-03 -17.4 0.6666666666666666 Benign/Likely benign 1 -260742 Simple 4130513 A . Benign 2 1 not specified 2016-01-12 . 2.0 . 0 -260743 Simple 74860463 A . Benign/Likely benign 2 4 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified;not provided 2017-08-31 -18.0 0.0 Benign/Likely benign 0 -260744 Simple 7201683 G . Benign 2 3 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-08-12 -17.4 0.6666666666666666 Benign/Likely benign 1 -260745 Simple 3764340 G . Benign 2 1 not specified 2016-01-05 . 2.0 . 0 -260746 Simple 73572838 A . Benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-08-07 -11.4 1.0 Benign/Likely benign 1 -260749 Simple 201388921 T . Benign/Likely benign 2 1 Ulnar-mammary syndrome;not specified 2016-06-14 . 1.0 . 0 -260753 Simple 142516478 G . Benign/Likely benign 2 1 Ciliary dyskinesia, primary, 6;not specified 2017-01-22 . 1.0 . 0 -260768 Simple 139516225 A . Benign 2 1 Ciliary dyskinesia, primary, 6;not specified 2017-08-07 . 0.0 . 0 -260772 Simple 2304214 T . Benign 2 3 Jarcho-Levin syndrome;not specified;Syndactyly 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -260773 Simple 115456333 A . Benign 2 1 not specified 2016-10-31 . 1.0 . 0 -260776 Simple 191149379 T . Likely benign 2 2 Jarcho-Levin syndrome;not specified;Syndactyly 2016-06-14 -6.0 1.0 Likely benign 0 -260777 Simple 116099821 T . Benign/Likely benign 2 3 Jarcho-Levin syndrome;not specified;Syndactyly 2016-12-05 -12.0 1.0 Benign/Likely benign 0 -260778 Simple 2304223 G . Benign 2 1 not specified 2016-03-21 . 1.0 . 0 -260780 Simple 8106337 G . Benign 2 3 Jarcho-Levin syndrome;not specified;Syndactyly 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -260781 Simple 35665264 C . Benign/Likely benign 2 2 Holoprosencephaly 11;not specified;Holoprosencephaly 2017-05-10 -9.0 0.5 Benign/Likely benign 0 -260782 Simple 11220313 T . Benign/Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260783 Simple 35884952 T . Benign/Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260784 Simple 516664 T . Benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260785 Simple 12274923 A . Benign/Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260789 Simple 115533243 C . Benign/Likely benign 2 2 Holoprosencephaly 11;not specified;Holoprosencephaly 2017-01-18 -9.0 1.0 Benign/Likely benign 0 -260791 Simple 684805 A . Benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260792 Simple 564214 G . Benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260793 Simple 3740904 T . Benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260795 Simple 3740910 G . Benign/Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260796 Simple 78304400 T . Benign/Likely benign 2 2 Holoprosencephaly 11;not specified;Holoprosencephaly 2017-06-12 -9.0 0.5 Benign/Likely benign 0 -260797 Simple 2276061 A . Benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260798 Simple 150174788 A . Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260799 Simple 684535 T . Benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260800 Simple 3740909 T . Benign/Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260803 Simple 4426144 T . Benign/Likely benign 2 1 not specified;Holoprosencephaly 2016-06-14 . 1.0 . 0 -260806 Simple 113593771 T . Benign 2 1 Holoprosencephaly 11;not specified 2017-02-01 . 1.0 . 0 -260807 Simple 2301708 T . Benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -260808 Simple 17171525 A . Benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -260809 Simple 2905608 C . Benign 2 1 not specified;Pseudohypoaldosteronism, Type I, Dominant 2016-06-14 . 1.0 . 0 -260816 Simple 3744566 T . Benign/Likely benign 2 1 not specified;Inclusion Body Myopathy, Dominant 2016-06-14 . 1.0 . 0 -260819 Simple 145796634 T . Likely benign 2 1 Inclusion body myopathy 3;not specified 2017-04-25 . 0.0 . 0 -260821 Simple 12600539 C . Benign 2 2 not specified;Inclusion Body Myopathy, Dominant 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -260822 Simple 2277651 C . Benign 2 1 not specified;Inclusion Body Myopathy, Dominant 2016-06-14 . 1.0 . 0 -260824 Simple 11078850 T . Benign 2 2 not specified;Inclusion Body Myopathy, Dominant 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -260825 Simple 138393827 T . Benign/Likely benign 2 1 Inclusion body myopathy 3;not specified 2017-05-26 . 0.0 . 0 -260826 Simple 1042236 A . Benign 2 2 not specified;Inclusion Body Myopathy, Dominant 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -260829 Simple 719277 T . Benign 2 1 not specified;Inclusion Body Myopathy, Dominant 2016-06-14 . 1.0 . 0 -260834 Simple 3760663 A . Benign/Likely benign 2 2 not specified;Progressive familial heart block 2016-09-27 -9.0 1.0 Benign/Likely benign 0 -260835 Simple 9494209 G . Benign/Likely benign 2 1 Joubert syndrome;not specified 2016-06-14 . 1.0 . 0 -260839 Simple 2757645 A . Benign 2 1 Joubert syndrome;not specified 2016-06-14 . 1.0 . 0 -260847 Simple 368942099 T . Likely benign 2 1 not specified 2017-06-01 . 0.0 . 0 -260853 Simple 142381345 T . Benign/Likely benign 2 3 Joubert syndrome;not specified 2017-05-16 -14.4 1.0 Benign/Likely benign 0 -260857 Simple 540849894 - . Benign 2 1 not specified 2015-06-24 . 2.0 . 0 -260861 Simple 143522987 A . Benign/Likely benign 2 3 Joubert syndrome;not specified;not provided 2017-08-07 -12.0 0.3333333333333333 Benign/Likely benign 0 -260863 Simple 2273423 C . Benign 2 1 Kindler's syndrome;not specified 2016-06-14 . 1.0 . 0 -260864 Simple 10373 G . Benign 2 1 Kindler's syndrome;not specified 2016-06-14 . 1.0 . 0 -260865 Simple 2295435 T . Benign 2 1 Kindler's syndrome;not specified 2016-06-14 . 1.0 . 0 -260866 Simple 2232073 C . Benign 2 1 Kindler's syndrome;not specified 2016-06-14 . 1.0 . 0 -260867 Simple 2232074 T . Benign 2 1 Kindler's syndrome;not specified 2016-06-14 . 1.0 . 0 -260868 Simple 753927 G . Benign 2 1 Kindler's syndrome;not specified 2016-06-14 . 1.0 . 0 -260890 Simple 111238892 G . Benign 2 2 CHARGE association;not specified 2017-06-30 -11.4 1.0 Benign/Likely benign 1 -260910 Simple 79203206 G . Benign 2 2 CHARGE association;not specified 2017-06-30 -11.4 1.0 Benign/Likely benign 1 -260911 Simple 41265252 G . Benign 2 1 not specified 2017-02-17 . 1.0 . 0 -260918 Simple 375071932 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-15 . 0.0 . 0 -260919 Simple 201554395 T . Benign/Likely benign 2 1 not specified;not provided 2017-09-08 . 0.0 . 0 -260921 Simple 77384933 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-02 . 0.0 . 0 -260922 Simple 34761279 G . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -260930 Simple 4720951 C . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -260931 Simple 145254596 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-11 . 0.0 . 0 -260932 Simple 3922641 A . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -260939 Simple 6943337 G . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -260943 Simple 201389647 C . Benign/Likely benign 2 1 not specified 2017-06-15 . 0.0 . 0 -260945 Simple 73437681 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-06-14 . 1.0 . 0 -260948 Simple 116795025 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-05-25 . 0.0 . 0 -260949 Simple 141185078 C . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-21 . 0.0 . 0 -260962 Simple 4889815 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-09 . 0.0 . 0 -260969 Simple 79588289 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-08-22 . 1.0 . 0 -260982 Simple 61998241 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -260983 Simple 150714487 A . Likely benign 2 1 not specified;Muscular dystrophy, limb-girdle, type 2W 2017-06-21 . 0.0 . 0 -260984 Simple 35765118 A . Benign 2 1 not specified;Muscular dystrophy, limb-girdle, type 2W 2017-08-02 . 0.0 . 0 -260986 Simple 145123078 A . Benign/Likely benign 2 1 not specified;Muscular dystrophy, limb-girdle, type 2W 2017-07-28 . 0.0 . 0 -260989 Simple 115961120 C . Benign 2 1 not specified;Muscular dystrophy, limb-girdle, type 2W 2017-07-21 . 0.0 . 0 -260991 Simple 2231959 C . Benign/Likely benign 2 4 Visceral heterotaxy 5, autosomal;Heterotaxy syndrome;not specified;Holoprosencephaly 2017-08-14 -18.0 0.75 Benign/Likely benign 0 -260992 Simple 10999334 T . Likely benign 2 2 Heterotaxy syndrome;not specified;Holoprosencephaly 2016-06-14 -6.0 1.0 Likely benign 0 -260993 Simple 7616708 C . Benign 2 1 not specified;Autosomal recessive cerebellar ataxia 2016-06-14 . 1.0 . 0 -260994 Simple 7893462 G . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -260996 Simple 34016213 C . Benign/Likely benign 2 2 not specified;Dyskeratosis Congenita, Recessive 2016-11-01 -9.0 1.0 Benign/Likely benign 0 -260999 Simple 7640 G . Benign 2 3 not specified;Dyskeratosis Congenita, Recessive 2016-09-13 -18.0 1.0 Benign/Likely benign 1 -261001 Simple 2287499 G . Benign 2 4 Li-Fraumeni syndrome;not specified;Dyskeratosis Congenita, Recessive 2016-09-13 -24.0 1.0 Benign 0 -261002 Simple 34067256 G . Likely benign 2 2 Li-Fraumeni syndrome;not specified;Dyskeratosis Congenita, Recessive 2016-06-14 -6.0 1.0 Likely benign 0 -261003 Simple 2287498 T . Benign/Likely benign 2 4 Li-Fraumeni syndrome;not specified;Dyskeratosis Congenita, Recessive 2016-09-13 -21.0 1.0 Benign/Likely benign 0 -261004 Simple 117698926 C . Likely benign 2 1 not specified 2016-06-03 . 1.0 . 0 -261007 Simple 191404122 T . Likely benign 2 1 not specified 2017-06-21 . 0.0 . 0 -261011 Simple 567371975 A . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-04-07 . 1.0 . 0 -261012 Simple 137991407 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified;not provided 2017-08-28 -9.0 0.0 Benign/Likely benign 0 -261023 Simple 775582219 A . Likely benign 2 2 Mental retardation, autosomal dominant 1;not specified 2017-08-09 -6.0 0.5 Likely benign 0 -261024 Simple 3214021 T . Benign/Likely benign 2 1 not specified 2016-03-10 . 1.0 . 0 -261026 Simple 1139266 A . Benign 2 1 Congenital disorder of glycosylation;not specified 2016-06-14 . 1.0 . 0 -261028 Simple 1275085 A . Benign/Likely benign 2 2 Brugada syndrome;not specified;Cardiovascular phenotype 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -261033 Simple 2270150 T . Benign 2 2 Ischiopatellar dysplasia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261034 Simple 758596 A . Benign 2 2 Ischiopatellar dysplasia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261035 Simple 3744438 T . Benign 2 1 Ischiopatellar dysplasia;not specified 2016-06-14 . 1.0 . 0 -261036 Simple 422388 G . Benign 2 2 not specified;Dyskeratosis Congenita, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261037 Simple 3826033 A . Benign 2 1 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 . 1.0 . 0 -261040 Simple 11542638 T . Benign/Likely benign 2 1 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 . 1.0 . 0 -261041 Simple 11073964 T . Benign 2 1 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 . 1.0 . 0 -261042 Simple 16945153 A . Benign/Likely benign 2 1 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 . 1.0 . 0 -261044 Simple 148071246 C . Benign/Likely benign 2 3 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -261045 Simple 111274092 - . Benign/Likely benign 2 2 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -261046 Simple 60198611 A . Benign/Likely benign 2 1 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 . 1.0 . 0 -261047 Simple 59648701 A . Benign/Likely benign 2 1 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-14 . 1.0 . 0 -261053 Simple 2287371 G . Benign 2 1 Joubert syndrome;not specified 2016-06-14 . 1.0 . 0 -261055 Simple 144531086 - . Benign 2 2 not specified 2016-04-07 -11.4 1.5 Benign/Likely benign 1 -261057 Simple 79940214 C . Likely benign 2 2 Bardet-Biedl syndrome;McKusick Kaufman syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -261058 Simple 74703166 A . Likely benign 2 2 Bardet-Biedl syndrome;McKusick Kaufman syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -261059 Simple 61734546 T . Benign/Likely benign 2 3 Bardet-Biedl syndrome;McKusick Kaufman syndrome;not specified 2017-04-27 -12.0 0.6666666666666666 Benign/Likely benign 0 -261063 Simple 11267038 C . Benign/Likely benign 2 2 not specified;Thrombocytopenia 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -261065 Simple 11554166 G . Benign 2 3 Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease, type 4A;not specified;Charcot-Marie-Tooth with Vocal Cord Paresis;Charcot-Marie-Tooth, Intermediate 2017-04-28 -18.0 0.6666666666666666 Benign/Likely benign 1 -261066 Simple 10774466 G . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -261067 Simple 1012729 A . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -261068 Simple 9804992 A . Benign 2 2 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type II;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261069 Simple 3168640 C . Benign 2 4 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -24.0 0.75 Benign 0 -261070 Simple 956868 C . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -261071 Simple 34032084 T . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-09 -18.0 0.6666666666666666 Benign/Likely benign 1 -261072 Simple 7955371 C . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -261073 Simple 12828016 T . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -261074 Simple 4766334 T . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type II;not specified 2017-06-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -261075 Simple 75477151 A . Benign/Likely benign 2 1 not specified;Ectopia lentis 2016-06-14 . 1.0 . 0 -261076 Simple 10888382 C . Benign 2 1 not specified;Ectopia lentis 2016-06-14 . 1.0 . 0 -261077 Simple 10749657 A . Benign 2 1 not specified;Ectopia lentis 2016-06-14 . 1.0 . 0 -261079 Simple 41317515 C . Benign 2 1 not specified;Ectopia lentis 2016-06-14 . 1.0 . 0 -261080 Simple 6681639 T . Benign 2 1 not specified;Ectopia lentis 2016-06-14 . 1.0 . 0 -261082 Simple 34839859 T . Benign/Likely benign 2 2 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -261084 Simple 7000747 A . Benign/Likely benign 2 2 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -261086 Simple 66881636 C . Benign/Likely benign 2 2 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -261089 Simple 16916632 T . Benign/Likely benign 2 2 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -261090 Simple 6471482 C . Benign 2 2 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261092 Simple 13265557 C . Benign/Likely benign 2 3 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-07-19 -12.0 1.0 Benign/Likely benign 0 -261114 Simple 2856453 T . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -261131 Simple 204900 C . Benign 2 1 not specified 2016-04-25 . 1.0 . 0 -261151 Simple 140770834 G . Benign/Likely benign 2 1 not specified;not provided 2017-05-24 . 0.0 . 0 -261153 Simple 11752495 T . Benign/Likely benign 2 1 not specified;not provided 2017-05-24 . 0.0 . 0 -261157 Simple 17207902 T . Benign/Likely benign 2 1 not specified;not provided 2017-08-10 . 0.0 . 0 -261161 Simple 2269429 T . Benign 2 1 not specified 2016-04-25 . 1.0 . 0 -261167 Simple 28361051 G . Benign/Likely benign 2 1 not specified;not provided 2017-03-03 . 1.0 . 0 -261183 Simple 2053098 G . Benign 2 2 Rotor syndrome;not specified 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -261184 Simple 4149117 G . Benign 2 2 Rotor syndrome;not specified 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -261185 Simple 3764009 T . Benign 2 2 Rotor syndrome;not specified 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -261186 Simple 7311358 A . Benign 2 2 Rotor syndrome;not specified 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -261193 Simple 56931633 T . Benign/Likely benign 2 1 Joubert syndrome;not specified 2017-05-16 . 0.0 . 0 -261195 Simple 78828148 A . Benign/Likely benign 2 2 Joubert syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -261202 Simple 202197173 T . Benign/Likely benign 2 2 Joubert syndrome;not specified 2017-02-02 -9.0 1.0 Benign/Likely benign 0 -261203 Simple 5901103 - . Benign 2 2 Joubert syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -261205 Simple 11540930 C . Benign/Likely benign 2 1 not specified 2017-10-24 . 0.0 . 0 -261221 Simple 139526549 A . Likely benign 2 1 Leukoencephalopathy with vanishing white matter;not specified 2016-06-14 . 1.0 . 0 -261224 Simple 79174967 C . Benign/Likely benign 2 2 Leukoencephalopathy with vanishing white matter;not specified;not provided 2017-06-12 -6.0 0.5 Likely benign 1 -261225 Simple 80191010 C . Benign/Likely benign 2 2 Leber congenital amaurosis;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -261227 Simple 7157052 A . Benign/Likely benign 2 2 Leber congenital amaurosis;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -261228 Simple 3748361 C . Benign 2 2 Leber congenital amaurosis;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261229 Simple 28664100 T . Benign/Likely benign 2 2 Leber congenital amaurosis;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -261230 Simple 150770244 A . Benign/Likely benign 2 2 Neutral lipid storage disease with myopathy;not specified 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -261231 Simple 11554663 T . Benign 2 1 Neutral lipid storage disease with myopathy;not specified 2016-06-14 . 1.0 . 0 -261234 Simple 142588621 G . Benign/Likely benign 2 2 Neutral lipid storage disease with myopathy;not specified 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -261236 Simple 1138693 C . Benign 2 1 Neutral lipid storage disease with myopathy;not specified 2016-06-14 . 1.0 . 0 -261238 Simple 1138694 T . Benign 2 1 Neutral lipid storage disease with myopathy;not specified 2016-06-14 . 1.0 . 0 -261239 Simple 371958663 A . Benign/Likely benign 2 1 Neutral lipid storage disease with myopathy;not specified 2016-06-14 . 1.0 . 0 -261240 Simple 200701730 A . Benign 2 1 Neutral lipid storage disease with myopathy;not specified 2017-08-03 . 0.0 . 0 -261243 Simple 10902224 T . Benign/Likely benign 2 2 Neutral lipid storage disease with myopathy;not specified 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -261246 Simple 140201358 G . Benign 2 1 Neutral lipid storage disease with myopathy;not specified 2017-08-04 . 0.0 . 0 -261248 Simple 1135628 G . Benign 2 1 Neutral lipid storage disease with myopathy;not specified 2016-06-14 . 1.0 . 0 -261249 Simple 148314086 T . Benign/Likely benign 2 2 Neutral lipid storage disease with myopathy;not specified 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -261253 Simple 2302644 G . Benign/Likely benign 2 1 not specified 2016-10-12 . 1.0 . 0 -261256 Simple 139992251 T . Benign/Likely benign 2 1 not specified;Spastic paraplegia 2017-06-22 . 0.0 . 0 -261257 Simple 4653910 C . Benign 2 1 not specified 2016-04-22 . 1.0 . 0 -261258 Simple 13038893 T . Benign 2 1 not specified;SALL4-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -261259 Simple 6126344 C . Benign 2 1 not specified;SALL4-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -261260 Simple 6021437 C . Benign 2 2 not specified;SALL4-Related Spectrum Disorders 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261261 Simple 13043248 A . Benign 2 1 not specified;SALL4-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -261262 Simple 6091375 G . Benign 2 1 not specified;SALL4-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -261263 Simple 17802735 G . Benign 2 1 not specified;SALL4-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -261264 Simple 6013281 G . Benign 2 1 not specified;SALL4-Related Spectrum Disorders 2016-06-14 . 1.0 . 0 -261265 Simple 61737139 C . Benign 2 2 Duane-radial ray syndrome;not specified;SALL4-Related Spectrum Disorders 2017-04-29 -12.0 0.5 Benign/Likely benign 1 -261268 Simple 886038656 C . Likely benign 2 1 not specified 2015-10-29 . 2.0 . 0 -261275 Simple 59653066 T . Benign/Likely benign 2 3 not specified;SEPN1-Related Disorders 2016-08-31 -15.0 1.0 Benign/Likely benign 0 -261280 Simple 74060854 A . Benign 2 2 Eichsfeld type congenital muscular dystrophy;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -261289 Simple 28533718 T . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-13 -9.0 0.5 Benign/Likely benign 0 -261292 Simple 61758865 A . Benign/Likely benign 2 1 not specified;Spherocytosis, Dominant 2016-06-14 . 1.0 . 0 -261294 Simple 61753679 T . Benign/Likely benign 2 1 not specified;Spherocytosis, Dominant 2016-06-14 . 1.0 . 0 -261295 Simple 61753680 G . Benign/Likely benign 2 1 not specified;Spherocytosis, Dominant 2016-06-14 . 1.0 . 0 -261296 Simple 2304877 T . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-17 -9.0 0.5 Benign/Likely benign 0 -261297 Simple 1137177 A . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -261299 Simple 2304880 A . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -261300 Simple 372696694 A . Likely benign 2 1 not specified;Spherocytosis, Dominant 2016-06-14 . 1.0 . 0 -261301 Simple 504574 G . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -261304 Simple 2304871 A . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -261305 Simple 35213384 A . Benign/Likely benign 2 1 not specified;Spherocytosis, Dominant 2016-06-14 . 1.0 . 0 -261306 Simple 35964634 A . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -261307 Simple 10093583 C . Benign/Likely benign 2 1 not specified;Spherocytosis, Dominant 2016-06-14 . 1.0 . 0 -261308 Simple 147536061 T . Benign/Likely benign 2 1 not specified;Spherocytosis, Dominant 2016-06-14 . 1.0 . 0 -261309 Simple 7816734 A . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-13 -9.0 0.5 Benign/Likely benign 0 -261310 Simple 34664882 A . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-20 -9.0 0.5 Benign/Likely benign 0 -261312 Simple 34265667 A . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-17 -9.0 0.5 Benign/Likely benign 0 -261313 Simple 6982971 C . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-17 -9.0 0.5 Benign/Likely benign 0 -261316 Simple 750625 T . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -261317 Simple 515071 G . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -261318 Simple 72638959 A . Benign/Likely benign 2 1 not specified 2016-03-28 . 1.0 . 0 -261319 Simple 2304873 T . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -261321 Simple 61735313 T . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -261322 Simple 17661203 C . Benign/Likely benign 2 2 not specified;Spherocytosis, Dominant 2017-04-17 -9.0 0.5 Benign/Likely benign 0 -261323 Simple 61736600 C . Benign/Likely benign 2 1 Mucolipidosis type IV;not specified 2016-06-14 . 1.0 . 0 -261324 Simple 612862 T . Benign/Likely benign 2 1 Mucolipidosis type IV;not specified 2016-06-14 . 1.0 . 0 -261325 Simple 7903315 C . Benign 2 1 not specified 2016-02-01 . 2.0 . 0 -261327 Simple 115212829 C . Benign/Likely benign 2 2 Familial infantile myasthenia;not specified 2017-06-06 -8.4 1.0 Benign/Likely benign 0 -261332 Simple 77144546 A . Likely benign 2 1 Familial infantile myasthenia;not specified 2016-10-25 . 1.0 . 0 -261336 Simple 61731734 T . Benign 2 1 Familial infantile myasthenia;not specified 2017-06-15 . 0.0 . 0 -261339 Simple 868749 T . Benign/Likely benign 2 2 Familial infantile myasthenia;not specified;not provided 2017-09-18 -9.0 0.0 Benign/Likely benign 0 -261342 Simple 1026435 A . Benign 2 1 not specified;Distal Renal Tubular Acidosis, Recessive 2016-06-14 . 1.0 . 0 -261343 Simple 3807154 G . Benign 2 1 not specified;Distal Renal Tubular Acidosis, Recessive 2016-06-14 . 1.0 . 0 -261345 Simple 10258719 G . Benign 2 1 not specified;Distal Renal Tubular Acidosis, Recessive 2016-06-14 . 1.0 . 0 -261346 Simple 2277789 A . Benign 2 1 Popliteal pterygium syndrome;not specified 2016-06-14 . 1.0 . 0 -261347 Simple 3746894 A . Benign 2 1 Popliteal pterygium syndrome;not specified 2016-06-14 . 1.0 . 0 -261348 Simple 3746893 T . Benign 2 1 Popliteal pterygium syndrome;not specified 2016-06-14 . 1.0 . 0 -261349 Simple 2838113 A . Benign 2 1 Popliteal pterygium syndrome;not specified 2016-06-14 . 1.0 . 0 -261350 Simple 3746891 C . Benign 2 1 Popliteal pterygium syndrome;not specified 2016-06-14 . 1.0 . 0 -261351 Simple 7276592 T . Benign 2 1 Popliteal pterygium syndrome;not specified 2016-06-14 . 1.0 . 0 -261352 Simple 2518144 T . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -261353 Simple 2028373 A . Benign 2 3 not specified;Immunodeficiency with Hyper-IgM 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -261360 Simple 112341167 A . Benign 2 1 not specified 2016-01-13 . 2.0 . 0 -261361 Simple 58604946 G . Benign 2 1 not specified 2015-12-30 . 2.0 . 0 -261363 Simple 112116686 A . Benign 2 1 not specified 2016-01-12 . 2.0 . 0 -261364 Simple 3219156 T . Benign 2 2 not specified;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261367 Simple 3219153 G . Benign 2 2 not specified;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261368 Simple 2276615 T . Benign 2 2 not specified;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261369 Simple 3219161 A . Benign/Likely benign 2 2 not specified;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -261370 Simple 3219154 C . Benign/Likely benign 2 4 Infantile-onset ascending hereditary spastic paralysis;not specified;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive 2017-08-08 -18.0 0.75 Benign/Likely benign 0 -261374 Simple 34946105 T . Benign/Likely benign 2 3 Infantile-onset ascending hereditary spastic paralysis;not specified;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive 2017-08-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -261377 Simple 3219168 A . Benign 2 2 not specified;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261378 Simple 3219169 T . Benign 2 3 not specified;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive 2017-02-02 -18.0 1.0 Benign/Likely benign 1 -261380 Simple 140998495 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-02-14 -9.0 1.0 Benign/Likely benign 0 -261381 Simple 886038661 - . Benign/Likely benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -261382 Simple 61746895 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -261383 Simple 1367580 T . Benign 2 2 Fanconi anemia;not specified 2016-09-13 -12.0 1.0 Benign/Likely benign 1 -261384 Simple 148871932 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-02-14 -9.0 1.0 Benign/Likely benign 0 -261385 Simple 45604036 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -261386 Simple 78211950 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-09-13 -9.0 1.0 Benign/Likely benign 0 -261387 Simple 796584585 - . Benign 2 2 Fanconi anemia;not specified 2016-12-05 -12.0 1.0 Benign/Likely benign 1 -261389 Simple 10138997 T . Benign 2 2 Fanconi anemia;not specified 2016-12-05 -12.0 1.0 Benign/Likely benign 1 -261390 Simple 3736772 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-09-13 -9.0 1.0 Benign/Likely benign 0 -261391 Simple 45557033 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -261392 Simple 8018014 C . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-07-19 -15.0 0.3333333333333333 Benign/Likely benign 0 -261394 Simple 141771814 G . Likely benign 2 1 not specified;Hereditary cancer-predisposing syndrome 2016-08-18 . 1.0 . 0 -261395 Simple 886038663 A . Likely benign 2 1 not specified;Hereditary cancer-predisposing syndrome 2016-03-14 . 1.0 . 0 -261401 Simple 17429833 G . Benign 2 1 not specified 2016-02-10 . 2.0 . 0 -261403 Simple 78025997 T . Benign 2 1 not specified 2016-03-25 . 1.0 . 0 -261409 Simple 7397862 A . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261410 Simple 13277 C . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261411 Simple 7970076 G . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261412 Simple 11838180 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261413 Simple 12316942 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261414 Simple 10850750 G . Benign 2 1 not specified 2016-06-28 . 1.0 . 0 -261415 Simple 35078611 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -261418 Simple 115373018 C . Benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-08-07 -48.0 0.75 Benign 0 -261420 Simple 3825394 G . Benign 2 7 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-17 -42.0 0.8571428571428571 Benign 0 -261421 Simple 748103823 C . Likely benign 2 1 Charcot-Marie-Tooth disease type 2C;not specified 2016-10-03 . 1.0 . 0 -261424 Simple 3809881 A . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -261428 Simple 1013940 G . Benign 2 1 not specified 2016-03-24 . 1.0 . 0 -261432 Simple 3823434 T . Benign/Likely benign 2 2 Fanconi anemia;Fanconi anemia, complementation group E;not specified 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -261435 Simple 4713867 C . Benign 2 2 Fanconi anemia;not specified 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -261437 Simple 114199361 G . Benign/Likely benign 2 2 not specified;not provided;Osteogenesis Imperfecta, Recessive 2016-10-11 -6.0 1.0 Likely benign 1 -261438 Simple 34764749 G . Benign/Likely benign 2 1 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -261442 Simple 141909783 C . Benign 2 1 not specified;Limb-girdle muscular dystrophy, type 2S 2017-08-07 . 0.0 . 0 -261445 Simple 138760818 C . Benign/Likely benign 2 1 not specified;Limb-girdle muscular dystrophy, type 2S 2017-07-31 . 0.0 . 0 -261447 Simple 151021715 C . Benign/Likely benign 2 1 not specified;Limb-girdle muscular dystrophy, type 2S 2017-03-13 . 0.0 . 0 -261449 Simple 114471872 A . Benign/Likely benign 2 2 not specified;Limb-girdle muscular dystrophy, type 2S 2017-07-06 -9.0 0.5 Benign/Likely benign 0 -261450 Simple 75176151 C . Benign 2 1 not specified;Limb-girdle muscular dystrophy, type 2S 2017-08-07 . 0.0 . 0 -261452 Simple 148105529 C . Likely benign 2 1 not specified;Limb-girdle muscular dystrophy, type 2S 2017-08-07 . 0.0 . 0 -261453 Simple 79804817 A . Benign/Likely benign 2 1 not specified;Limb-girdle muscular dystrophy, type 2S 2017-06-27 . 0.0 . 0 -261457 Simple 11617415 T . Benign 2 1 not specified;Zonular Pulverulent Cataract 2016-06-14 . 1.0 . 0 -261458 Simple 74607195 A . Benign 2 2 Zonular pulverulent cataract 3;not specified;Zonular Pulverulent Cataract 2016-11-01 -12.0 1.0 Benign/Likely benign 1 -261459 Simple 968566 T . Benign 2 1 not specified;Zonular Pulverulent Cataract 2016-06-14 . 1.0 . 0 -261460 Simple 10431213 A . Benign 2 1 Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified 2016-06-14 . 1.0 . 0 -261461 Simple 150691568 C . Likely benign 2 1 not specified 2017-07-07 . 0.0 . 0 -261462 Simple 2306180 C . Benign 2 1 Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified 2016-06-14 . 1.0 . 0 -261463 Simple 4639981 A . Benign 2 1 Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified 2016-06-14 . 1.0 . 0 -261468 Simple 78337075 T . Likely benign 2 1 not specified 2016-02-11 . 2.0 . 0 -261470 Simple 3765094 G . Benign 2 1 not specified 2015-09-17 . 2.0 . 0 -261471 Simple 16924038 T . Benign 2 1 not specified 2015-05-18 . 2.0 . 0 -261479 Simple 61740238 T . Benign/Likely benign 2 2 Giant axonal neuropathy;not specified 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -261522 Simple 79992793 G . Benign/Likely benign 2 1 not specified;not provided 2016-09-14 . 1.0 . 0 -261540 Simple 200816691 C . Benign/Likely benign 2 1 not specified 2016-01-28 . 2.0 . 0 -261541 Simple 56351817 A . Benign 2 1 Parkinson disease 9;not specified;Spastic paraplegia 78, autosomal recessive 2017-05-24 . 0.0 . 0 -261556 Simple 190514867 A . Likely benign 2 1 not specified 2016-11-17 . 1.0 . 0 -261558 Simple 114527907 G . Benign 2 1 not specified 2016-07-26 . 1.0 . 0 -261563 Simple 35337543 G . Benign 2 1 Singleton-Merten syndrome 1;not specified;Aicardi-goutieres syndrome 7 2017-07-25 . 0.0 . 0 -261569 Simple 115611153 C . Benign 2 1 Welander distal myopathy;not specified 2017-07-13 . 0.0 . 0 -261572 Simple 61761321 C . Benign/Likely benign 2 1 not specified;Hypohidrotic Ectodermal Dysplasia, Dominant 2016-06-14 . 1.0 . 0 -261573 Simple 79648056 T . Benign/Likely benign 2 2 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Autosomal dominant hypohidrotic ectodermal dysplasia;not specified;Hypohidrotic Ectodermal Dysplasia, Dominant 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -261574 Simple 3749099 A . Benign 2 1 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Autosomal dominant hypohidrotic ectodermal dysplasia;not specified 2017-05-26 . 0.0 . 0 -261576 Simple 12401573 T . Benign 2 2 not specified;Cone-Rod Dystrophy, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261577 Simple 2277608 C . Benign 2 1 not specified;Syndromic Microphthalmia, Recessive 2016-06-14 . 1.0 . 0 -261578 Simple 736118 T . Benign 2 1 not specified;Syndromic Microphthalmia, Recessive 2016-06-14 . 1.0 . 0 -261581 Simple 150421873 T . Benign/Likely benign 2 2 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -6.0 1.0 Likely benign 1 -261584 Simple 541077303 T . Benign 2 1 Beckwith-Wiedemann syndrome;not specified 2017-07-06 . 0.0 . 0 -261588 Simple 79427433 T . Benign/Likely benign 2 4 Beckwith-Wiedemann syndrome;Weaver syndrome;not specified;Sotos Syndrome 2017-06-08 -17.4 1.0 Benign/Likely benign 0 -261593 Simple 756321444 T . Likely benign 2 2 Weaver syndrome;not specified;Sotos Syndrome 2016-06-14 -6.0 1.0 Likely benign 0 -261600 Simple 11555154 C . Benign/Likely benign 2 2 Marinesco-Sjögren syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -261601 Simple 61745568 G . Benign/Likely benign 2 3 Marinesco-Sjögren syndrome;not specified 2017-05-30 -15.0 0.6666666666666666 Benign/Likely benign 0 -261602 Simple 35080367 A . Benign/Likely benign 2 2 Marinesco-Sjögren syndrome;not specified 2017-02-28 -9.0 1.0 Benign/Likely benign 0 -261603 Simple 4983530 T . Benign 2 4 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified 2017-04-28 -23.4 1.0 Benign/Likely benign 1 -261604 Simple 199612826 T . Likely benign 2 1 not specified 2017-03-03 . 1.0 . 0 -261605 Simple 11850821 G . Benign 2 1 not specified 2015-12-29 . 2.0 . 0 -261606 Simple 3840006 - . Benign 2 2 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified 2017-04-15 -12.0 0.5 Benign/Likely benign 1 -261607 Simple 59751492 T . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-08-08 -18.0 0.6666666666666666 Benign/Likely benign 1 -261608 Simple 79327775 T . Benign/Likely benign 2 2 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-05-23 -9.0 0.5 Benign/Likely benign 0 -261609 Simple 62640005 T . Benign 2 2 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-07-20 -12.0 0.5 Benign/Likely benign 1 -261610 Simple 142678449 A . Benign/Likely benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-08-09 -15.0 0.6666666666666666 Benign/Likely benign 0 -261611 Simple 10133301 C . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified 2017-04-25 -17.4 1.0 Benign/Likely benign 1 -261612 Simple 73347508 T . Benign 2 2 Focal segmental glomerulosclerosis;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -261613 Simple 4983535 C . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified 2017-04-25 -17.4 1.0 Benign/Likely benign 1 -261614 Simple 75382114 T . Benign/Likely benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-07-19 -15.0 0.6666666666666666 Benign/Likely benign 0 -261615 Simple 186075307 C . Benign/Likely benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-08-02 -15.0 0.6666666666666666 Benign/Likely benign 0 -261616 Simple 117457867 T . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-08-07 -17.4 1.0 Benign/Likely benign 1 -261617 Simple 1128840 C . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified 2017-04-15 -17.4 1.0 Benign/Likely benign 1 -261618 Simple 1128840 G . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified 2017-04-25 -17.4 1.0 Benign/Likely benign 1 -261619 Simple 34251364 T . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified 2017-04-15 -17.4 1.0 Benign/Likely benign 1 -261620 Simple 3803311 T . Benign/Likely benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-07-25 -15.0 0.6666666666666666 Benign/Likely benign 0 -261622 Simple 4074531 A . Benign 2 2 not specified 2016-09-06 -11.4 1.5 Benign/Likely benign 1 -261623 Simple 115458897 T . Benign 2 1 not specified 2016-01-13 . 2.0 . 0 -261624 Simple 75115369 T . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-08-04 -18.0 0.6666666666666666 Benign/Likely benign 1 -261625 Simple 62638758 A . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-08-07 -17.4 1.0 Benign/Likely benign 1 -261628 Simple 118017785 T . Benign 2 1 not specified 2015-12-29 . 2.0 . 0 -261629 Simple 184709736 A . Benign/Likely benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-08-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -261630 Simple 3740615 A . Benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -261631 Simple 151253274 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -261637 Simple 768490008 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-06-19 . 0.0 . 0 -261638 Simple 34392071 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-16 -9.0 0.5 Benign/Likely benign 0 -261641 Simple 148947094 T . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-04-21 . 0.0 . 0 -261661 Simple 61750361 A . Benign 2 1 Blepharophimosis, ptosis, and epicanthus inversus;not specified 2016-11-03 . 1.0 . 0 -261662 Simple 7432551 C . Benign 2 1 Blepharophimosis, ptosis, and epicanthus inversus;not specified 2016-11-03 . 1.0 . 0 -261666 Simple 191239995 A . Benign/Likely benign 2 1 not specified 2017-01-03 . 1.0 . 0 -261677 Simple 74881219 T . Benign/Likely benign 2 1 Joubert syndrome;not specified 2016-06-14 . 1.0 . 0 -261679 Simple 2289145 A . Benign/Likely benign 2 1 Pontoneocerebellar hypoplasia;not specified 2016-06-14 . 1.0 . 0 -261693 Simple 76300806 - . Benign 2 2 not specified;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261701 Simple 36084504 T . Benign 2 1 Hajdu-Cheney syndrome;not specified 2017-05-16 . 0.0 . 0 -261702 Simple 7543643 A . Benign 2 1 Hajdu-Cheney syndrome;not specified 2017-07-28 . 0.0 . 0 -261703 Simple 17024525 A . Benign 2 1 Hajdu-Cheney syndrome;not specified 2017-03-22 . 0.0 . 0 -261704 Simple 3795666 A . Benign 2 1 Hajdu-Cheney syndrome;not specified 2017-07-11 . 0.0 . 0 -261705 Simple 6685892 T . Benign 2 1 not specified 2016-03-08 . 1.0 . 0 -261706 Simple 376049846 T . Benign/Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2016-12-15 -9.0 1.0 Benign/Likely benign 0 -261708 Simple 2234590 C . Benign/Likely benign 2 6 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WAGR syndrome;WILMS TUMOR 2017-08-11 -24.0 0.8333333333333334 Benign 1 -261710 Simple 2234582 A . Benign 2 6 Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WILMS TUMOR 2016-06-14 -36.0 1.0 Benign 0 -261712 Simple 536728682 T . Benign/Likely benign 2 5 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WAGR syndrome;WILMS TUMOR 2017-07-03 -18.0 0.8 Benign/Likely benign 0 -261713 Simple 2234583 A . Benign/Likely benign 2 7 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WILMS TUMOR 2017-04-14 -30.0 0.8571428571428571 Benign 1 -261714 Simple 9332974 A . Benign/Likely benign 2 5 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WAGR syndrome;WILMS TUMOR 2017-06-06 -18.0 0.8 Benign/Likely benign 0 -261716 Simple 1799933 T . Benign 2 1 not specified 2016-04-05 . 1.0 . 0 -261718 Simple 34147726 T . Benign 2 2 Cataract, autosomal recessive congenital 2;not specified;Congenital cataract 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -261719 Simple 3796376 T . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261720 Simple 33910087 A . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261721 Simple 149507450 A . Benign/Likely benign 2 2 Cataract, autosomal recessive congenital 2;not specified;Congenital cataract 2016-08-08 -9.0 1.0 Benign/Likely benign 0 -261722 Simple 3796375 A . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261723 Simple 4682801 T . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261724 Simple 13079869 A . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261725 Simple 751552 T . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261726 Simple 34801630 T . Benign/Likely benign 2 2 Cataract, autosomal recessive congenital 2;not specified;Congenital cataract 2017-06-23 -9.0 0.5 Benign/Likely benign 0 -261728 Simple 13059238 C . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261729 Simple 13079478 T . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261731 Simple 41289620 T . Benign/Likely benign 2 2 Cataract, autosomal recessive congenital 2;not specified;Congenital cataract 2016-08-08 -9.0 1.0 Benign/Likely benign 0 -261732 Simple 13069079 A . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261734 Simple 1463680 A . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261735 Simple 137986696 T . Benign/Likely benign 2 2 Cataract, autosomal recessive congenital 2;not specified;Congenital cataract 2017-05-11 -9.0 0.5 Benign/Likely benign 0 -261736 Simple 4683158 T . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261737 Simple 13071283 C . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261738 Simple 3733100 G . Benign 2 1 not specified;Congenital cataract 2016-06-14 . 1.0 . 0 -261739 Simple 188082584 T . Benign/Likely benign 2 3 Parathyroid carcinoma;Hyperparathyroidism 2;not specified;Isolated Hyperparathyroidism 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -261741 Simple 35416748 A . Benign/Likely benign 2 2 Aicardi Goutieres syndrome 2;Aicardi Goutieres syndrome;not specified 2017-07-05 -9.0 0.5 Benign/Likely benign 0 -261742 Simple 143095485 C . Benign/Likely benign 2 2 Kohlschutter's syndrome;not specified 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -261743 Simple 114103417 A . Benign/Likely benign 2 1 Kohlschutter's syndrome;not specified 2016-06-14 . 1.0 . 0 -261745 Simple 8432 G . Benign 2 2 Bardet-Biedl syndrome;not specified 2017-06-02 -12.0 0.5 Benign/Likely benign 1 -261747 Simple 3816492 T . Benign 2 2 Bardet-Biedl syndrome;not specified 2017-06-02 -12.0 0.5 Benign/Likely benign 1 -261750 Simple 2298806 A . Benign 2 2 Bardet-Biedl syndrome;not specified 2017-06-02 -12.0 0.5 Benign/Likely benign 1 -261754 Simple 77565309 G . Benign/Likely benign 2 3 Bardet-Biedl syndrome;not specified 2017-04-11 -14.4 1.0 Benign/Likely benign 0 -261755 Simple 139719799 C . Benign/Likely benign 2 1 not specified 2016-02-16 . 2.0 . 0 -261761 Simple 3816 G . Benign 2 1 Hermansky-Pudlak syndrome;not specified 2016-06-14 . 1.0 . 0 -261763 Simple 145597717 A . Benign/Likely benign 2 1 Hermansky-Pudlak syndrome;not specified 2016-06-14 . 1.0 . 0 -261765 Simple 200584437 C . Benign/Likely benign 2 1 Hermansky-Pudlak syndrome;not specified 2016-06-14 . 1.0 . 0 -261773 Simple 73969727 C . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Joubert syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -261775 Simple 146509360 G . Benign 2 1 not specified 2016-05-10 . 1.0 . 0 -261776 Simple 76726265 T . Likely benign 2 1 not specified 2017-10-31 . 0.0 . 0 -261787 Simple 117614122 T . Benign 2 1 not specified 2016-08-31 . 1.0 . 0 -261789 Simple 142452647 G . Benign/Likely benign 2 1 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-12-24 . 1.0 . 0 -261794 Simple 35933858 G . Benign/Likely benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261795 Simple 3749487 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261796 Simple 74632598 T . Benign/Likely benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261797 Simple 931605 T . Benign/Likely benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261798 Simple 931606 A . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261799 Simple 34670941 C . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261800 Simple 548267943 - . Benign/Likely benign 2 1 not specified;not provided 2017-09-18 . 0.0 . 0 -261801 Simple 4975070 G . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261802 Simple 4975139 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261803 Simple 12504081 A . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261804 Simple 345513 G . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261805 Simple 6835769 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261806 Simple 398092530 TGTG . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261807 Simple 78575519 A . Benign/Likely benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261808 Simple 2867014 A . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261809 Simple 17003235 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261810 Simple 13123710 T . Benign/Likely benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261811 Simple 6851427 A . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261812 Simple 7660664 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261813 Simple 7684722 G . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261814 Simple 7664505 C . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261815 Simple 11098194 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261816 Simple 41327848 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261817 Simple 7677541 C . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261818 Simple 7695038 G . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261820 Simple 11933630 T . Benign/Likely benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261821 Simple 4859905 G . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -261822 Simple 6503093 C . Benign 2 2 not specified;Dyskeratosis Congenita, Recessive 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -261823 Simple 142288119 - . Likely benign 2 5 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 1 -261827 Simple 147371999 G . Benign 2 3 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-08-08 -18.0 0.6666666666666666 Benign/Likely benign 1 -261850 Simple 377613416 C . Likely benign 2 1 not specified 2016-09-14 . 1.0 . 0 -261855 Simple 60800612 G . Benign/Likely benign 2 2 Jeune thoracic dystrophy;Cranioectodermal dysplasia;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -261857 Simple 16995189 C . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia;not specified;Senior-Loken syndrome 8 2017-02-08 -12.0 1.0 Benign/Likely benign 0 -261863 Simple 16995209 A . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia;not specified;Senior-Loken syndrome 8 2017-08-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -261866 Simple 17584431 G . Benign/Likely benign 2 2 Jeune thoracic dystrophy;Cranioectodermal dysplasia;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -261867 Simple 2167494 T . Benign 2 2 Jeune thoracic dystrophy;Cranioectodermal dysplasia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261868 Simple 75964850 A . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia;not specified;Senior-Loken syndrome 8 2017-08-15 -12.0 0.6666666666666666 Benign/Likely benign 0 -261869 Simple 34212827 C . Benign 2 1 not specified 2016-03-08 . 1.0 . 0 -261870 Simple 2305880 C . Benign 2 1 not specified 2016-02-25 . 2.0 . 0 -261873 Simple 9938550 G . Benign 2 1 not specified 2016-02-25 . 2.0 . 0 -261874 Simple 17849880 T . Benign 2 1 not specified 2016-02-10 . 2.0 . 0 -261879 Simple 1800468 T . Benign/Likely benign 2 1 Meckel-Gruber syndrome;not specified 2016-06-14 . 1.0 . 0 -261881 Simple 2241714 C . Benign 2 1 Meckel-Gruber syndrome;not specified 2016-06-14 . 1.0 . 0 -261884 Simple 7499 A . Benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261886 Simple 2230687 G . Benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261887 Simple 2230688 T . Benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261888 Simple 17338853 T . Benign/Likely benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261889 Simple 2230689 A . Benign/Likely benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261895 Simple 11702425 C . Benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261896 Simple 61731167 A . Benign/Likely benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261897 Simple 62000962 A . Benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261898 Simple 79980197 G . Likely benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261899 Simple 115470104 A . Benign/Likely benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261905 Simple 116618591 A . Likely benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261906 Simple 11544970 T . Benign/Likely benign 2 1 Knobloch syndrome 1;not specified 2016-06-14 . 1.0 . 0 -261920 Simple 12018992 C . Benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-20 -18.0 0.6666666666666666 Benign/Likely benign 1 -261921 Simple 8019857 T . Benign 2 4 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -24.0 0.75 Benign 0 -261923 Simple 377272036 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -6.0 0.0 Likely benign 0 -261924 Simple 540502223 G . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -9.0 0.0 Benign/Likely benign 0 -261925 Simple 61729797 T . Benign 2 4 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-15 -24.0 0.75 Benign 0 -261928 Simple 140896887 T . Benign 3 3 not specified;Rasopathy 2017-05-09 -15.0 1.0 Benign/Likely benign 1 -261931 Simple 778783152 A . Benign/Likely benign 2 1 not specified 2015-07-31 . 2.0 . 0 -261936 Simple 201405375 T . Benign/Likely benign 2 1 not specified 2016-11-08 . 1.0 . 0 -261937 Simple 558894862 A . Likely benign 2 1 not specified 2016-09-30 . 1.0 . 0 -261940 Simple 2645029 A . Benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -261944 Simple 73346359 C . Benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -261945 Simple 3809835 T . Benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -261946 Simple 11654099 G . Benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -261948 Simple 34897053 A . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -261949 Simple 28493751 A . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -261950 Simple 149964592 A . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 . 1.0 . 0 -261951 Simple 938288 A . Benign 2 2 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -261953 Simple 41275982 G . Benign 2 1 not specified;Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 2017-08-09 . 0.0 . 0 -261954 Simple 34317198 C . Benign 2 1 not specified;Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 2017-08-02 . 0.0 . 0 -261955 Simple 117082250 G . Benign 2 1 not specified;Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 2017-08-07 . 0.0 . 0 -261961 Simple 145881139 A . Likely benign 2 1 Retinal degeneration;not specified;Retinal degeneration 2016-06-14 . 1.0 . 0 -261962 Simple 11217241 T . Benign/Likely benign 2 2 Microphthalmia, isolated 6;Retinal degeneration;not specified;Retinal degeneration 2016-06-14 -6.0 1.0 Likely benign 1 -261964 Simple 190686229 T . Likely benign 2 1 not specified;not provided 2017-09-25 . 0.0 . 0 -261965 Simple 2107732 A . Benign 2 1 not specified 2017-02-24 . 1.0 . 0 -261971 Simple 11552377 A . Benign 2 1 not specified 2017-06-14 . 0.0 . 0 -261975 Simple 2289367 A . Benign 2 1 not specified 2016-07-27 . 1.0 . 0 -261976 Simple 141170836 A . Benign/Likely benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -261977 Simple 115078074 G . Likely benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -261978 Simple 78076550 C . Likely benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -261980 Simple 6499838 C . Benign/Likely benign 2 4 Bardet-Biedl syndrome;not specified;not provided 2017-07-28 -21.0 0.75 Benign/Likely benign 0 -261981 Simple 11373 C . Benign 2 2 Bardet-Biedl syndrome;Bardet-Biedl syndrome 2;not specified 2017-06-02 -12.0 0.5 Benign/Likely benign 1 -261984 Simple 7671281 C . Benign 2 1 not specified;Amelogenesis Imperfecta, Dominant 2016-06-14 . 1.0 . 0 -261985 Simple 3796704 A . Benign/Likely benign 2 1 not specified;Amelogenesis Imperfecta, Dominant 2016-06-14 . 1.0 . 0 -261989 Simple 199857233 T . Likely benign 2 1 not specified 2017-04-07 . 0.0 . 0 -261990 Simple 1898071 C . Benign 2 1 not specified 2015-09-17 . 2.0 . 0 -261993 Simple 3803953 G . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -261994 Simple 41281862 A . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -261995 Simple 3803957 A . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -261996 Simple 6084312 T . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -261997 Simple 41281860 A . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -261999 Simple 41281858 A . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -262001 Simple 3827075 G . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -262002 Simple 3803956 T . Benign/Likely benign 2 1 not specified;Corneal Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -262009 Simple 11558324 C . Benign 2 1 Hermansky-Pudlak syndrome;not specified 2016-06-14 . 1.0 . 0 -262013 Simple 74907982 A . Benign/Likely benign 2 1 Hermansky-Pudlak syndrome;not specified 2016-06-14 . 1.0 . 0 -262017 Simple 77010939 T . Benign/Likely benign 2 3 Bardet-Biedl syndrome;Bardet-Biedl syndrome 3;Retinitis pigmentosa 55;not specified;Retinitis Pigmentosa, Recessive 2017-06-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -262018 Simple 77371161 C . Benign/Likely benign 2 1 Aicardi Goutieres syndrome;not specified 2016-06-14 . 1.0 . 0 -262021 Simple 34040483 C . Benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 2017-07-17 -12.0 0.5 Benign/Likely benign 1 -262022 Simple 2196168 G . Benign 2 1 not specified;Optic Atrophy, Recessive 2016-06-14 . 1.0 . 0 -262026 Simple 45530340 T . Benign/Likely benign 2 2 Parkinson disease 6, autosomal recessive early-onset;not specified;Parkinson Disease, Recessive 2017-04-27 -9.0 0.5 Benign/Likely benign 0 -262027 Simple 2298298 G . Benign 2 1 not specified;Parkinson Disease, Recessive 2016-06-14 . 1.0 . 0 -262028 Simple 3131713 A . Benign 2 1 not specified;Parkinson Disease, Recessive 2016-06-14 . 1.0 . 0 -262029 Simple 3751839 C . Benign/Likely benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -262030 Simple 112511042 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-28 -9.0 1.0 Benign/Likely benign 0 -262031 Simple 115694169 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -262032 Simple 113490934 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-28 -9.0 1.0 Benign/Likely benign 0 -262033 Simple 80116508 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-28 -9.0 1.0 Benign/Likely benign 0 -262034 Simple 76350200 G . Benign/Likely benign 2 1 Fanconi anemia;not specified 2016-06-14 . 1.0 . 0 -262035 Simple 74319927 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-28 -9.0 1.0 Benign/Likely benign 0 -262038 Simple 144892556 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -262040 Simple 77985244 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-19 -9.0 1.0 Benign/Likely benign 0 -262044 Simple 59939128 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-19 -9.0 1.0 Benign/Likely benign 0 -262045 Simple 78637028 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-28 -9.0 1.0 Benign/Likely benign 0 -262046 Simple 76488917 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-08-07 -15.0 0.3333333333333333 Benign/Likely benign 0 -262047 Simple 714181 A . Benign 2 3 Fanconi anemia;Fanconi anemia, complementation group P;not specified 2017-08-18 -18.0 0.6666666666666666 Benign/Likely benign 1 -262048 Simple 3827530 A . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-01-17 -15.0 1.0 Benign/Likely benign 0 -262049 Simple 77699867 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-08-14 -15.0 0.6666666666666666 Benign/Likely benign 0 -262050 Simple 3810813 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-09-13 -9.0 1.0 Benign/Likely benign 0 -262051 Simple 112596894 T . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -262053 Simple 3810812 G . Benign 2 2 Fanconi anemia;not specified 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -262054 Simple 78635099 T . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-08-14 -15.0 0.6666666666666666 Benign/Likely benign 0 -262055 Simple 74640850 A . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-01-17 -15.0 1.0 Benign/Likely benign 0 -262056 Simple 79842542 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-10-19 -9.0 1.0 Benign/Likely benign 0 -262057 Simple 28516461 A . Benign 2 2 Fanconi anemia;not specified 2017-04-04 -12.0 0.5 Benign/Likely benign 1 -262058 Simple 8061528 T . Benign 2 2 Fanconi anemia;not specified 2016-09-13 -12.0 1.0 Benign/Likely benign 1 -262060 Simple 31483 T . Benign 2 3 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262061 Simple 10519949 C . Benign/Likely benign 2 4 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-08-08 -21.0 0.75 Benign/Likely benign 0 -262063 Simple 146902993 T . Likely benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-05-25 -6.0 0.0 Likely benign 0 -262064 Simple 12654455 A . Benign/Likely benign 2 4 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-08-08 -21.0 0.75 Benign/Likely benign 0 -262065 Simple 11950427 C . Benign/Likely benign 2 3 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -262067 Simple 117124929 T . Benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2016-11-18 -12.0 1.0 Benign/Likely benign 1 -262068 Simple 115309591 T . Benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -262070 Simple 72786483 G . Likely benign 2 1 not specified 2017-08-02 . 0.0 . 0 -262073 Simple 35159176 T . Benign/Likely benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-04-26 -9.0 0.0 Benign/Likely benign 0 -262074 Simple 17164938 A . Benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-08-07 -11.4 1.0 Benign/Likely benign 1 -262075 Simple 17164935 A . Benign/Likely benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -262076 Simple 3812052 A . Benign/Likely benign 2 3 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -262077 Simple 3812055 A . Benign/Likely benign 2 3 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -262079 Simple 3812054 A . Benign/Likely benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -262080 Simple 6595769 T . Benign/Likely benign 2 3 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -262081 Simple 35550094 T . Benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-07-10 -12.0 0.5 Benign/Likely benign 1 -262084 Simple 28449480 A . Benign/Likely benign 2 1 Nephronophthisis;not specified 2016-06-14 . 1.0 . 0 -262085 Simple 72766563 T . Benign/Likely benign 2 2 Nephronophthisis;not specified 2017-08-15 -9.0 0.5 Benign/Likely benign 0 -262089 Simple 56066045 C . Benign 2 1 not specified 2016-03-07 . 1.0 . 0 -262093 Simple 568300 C . Benign 2 2 not specified;Hyperphosphatasia with Intellectual Disability Syndrome 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -262094 Simple 77344591 T . Benign/Likely benign 2 2 not specified;Hyperphosphatasia with Intellectual Disability Syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -262095 Simple 35287398 G . Benign 2 3 not specified;Hyperphosphatasia with mental retardation syndrome 2 2017-08-04 -17.4 0.6666666666666666 Benign/Likely benign 1 -262097 Simple 2298314 A . Benign 2 4 not specified;Hyperphosphatasia with mental retardation syndrome 2;Hyperphosphatasia with Intellectual Disability Syndrome 2017-08-01 -23.4 0.75 Benign/Likely benign 1 -262098 Simple 116248521 A . Benign/Likely benign 2 3 not specified;Hyperphosphatasia with mental retardation syndrome 2;Hyperphosphatasia with Intellectual Disability Syndrome 2017-07-03 -15.0 0.6666666666666666 Benign/Likely benign 0 -262100 Simple 2240116 A . Benign 2 1 not specified 2016-01-09 . 2.0 . 0 -262101 Simple 149918940 T . Benign/Likely benign 2 2 not specified;Macular degeneration;Cone-Rod Dystrophy, Dominant 2016-06-14 -6.0 1.0 Likely benign 1 -262102 Simple 2936818 A . Benign 2 1 not specified 2016-01-11 . 2.0 . 0 -262103 Simple 9811883 T . Benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-08-09 -11.4 1.0 Benign/Likely benign 1 -262104 Simple 604033 T . Benign 2 1 not specified 2016-01-08 . 2.0 . 0 -262105 Simple 35207939 A . Benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-08-08 -12.0 0.5 Benign/Likely benign 1 -262106 Simple 143832191 A . Likely benign 2 1 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-05-18 . 0.0 . 0 -262108 Simple 138980930 T . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-04-21 -6.0 0.5 Likely benign 0 -262109 Simple 141319921 C . Benign/Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-04-21 -9.0 0.5 Benign/Likely benign 0 -262110 Simple 10764686 C . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262111 Simple 7907988 G . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262112 Simple 7907981 C . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262114 Simple 36121140 A . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262115 Simple 1981296 T . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262116 Simple 3802526 G . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262119 Simple 41282228 A . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262122 Simple 10741130 C . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262125 Simple 56204835 A . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262126 Simple 7068375 T . Benign/Likely benign 2 1 not specified;Thrombocytopenia 2016-06-14 . 1.0 . 0 -262129 Simple 2609383 A . Benign 2 1 not specified 2016-08-25 . 1.0 . 0 -262130 Simple 2789975 T . Benign 2 1 not specified 2016-08-25 . 1.0 . 0 -262133 Simple 11637927 A . Benign/Likely benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -262136 Simple 147202164 T . Benign/Likely benign 2 1 not specified 2016-02-04 . 2.0 . 0 -262142 Simple 34620165 A . Benign 2 1 Bardet-Biedl syndrome;not specified 2017-05-30 . 0.0 . 0 -262143 Simple 8033604 A . Benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -262152 Simple 112401775 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 0 -262154 Simple 6908392 A . Benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262155 Simple 111449472 G . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-05-12 -24.0 0.8 Benign 1 -262159 Simple 367782368 T . Likely benign 2 1 not specified 2016-06-20 . 1.0 . 0 -262160 Simple 9478314 C . Benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262165 Simple 139156106 G . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-07 -21.0 0.8 Benign/Likely benign 0 -262171 Simple 12662994 T . Benign 2 1 not specified 2016-01-28 . 2.0 . 0 -262175 Simple 17082389 C . Benign 2 1 not specified 2016-01-29 . 2.0 . 0 -262176 Simple 6557210 A . Benign 2 1 not specified 2016-01-25 . 2.0 . 0 -262178 Simple 2296254 T . Benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262179 Simple 75469773 A . Likely benign 2 1 not specified 2017-10-19 . 0.0 . 0 -262182 Simple 9383976 G . Benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262186 Simple 145098375 G . Benign/Likely benign 2 5 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-17 -18.0 0.6 Benign/Likely benign 0 -262192 Simple 139671151 A . Benign 2 1 not specified 2016-09-06 . 1.0 . 0 -262201 Simple 214943 A . Benign 2 1 not specified 2016-01-25 . 2.0 . 0 -262202 Simple 214955 T . Benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262203 Simple 117020413 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-11 -17.4 1.0 Benign/Likely benign 0 -262205 Simple 114954026 A . Benign/Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-26 -12.0 0.6666666666666666 Benign/Likely benign 0 -262207 Simple 77322999 C . Benign/Likely benign 2 1 not specified 2016-05-23 . 1.0 . 0 -262208 Simple 35055733 C . Benign/Likely benign 2 3 Congenital disorder of glycosylation type 1I;Congenital disorder of glycosylation;not specified;Myasthenic syndrome, congenital, 14 2017-08-11 -14.4 1.0 Benign/Likely benign 0 -262209 Simple 116594644 T . Benign/Likely benign 2 2 not specified;Cone-Rod Dystrophy, Recessive 2016-10-17 -9.0 1.0 Benign/Likely benign 0 -262210 Simple 10749482 G . Benign 2 1 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -262213 Simple 45584033 T . Benign/Likely benign 2 2 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -262214 Simple 79239487 A . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -262215 Simple 4933975 G . Benign 2 1 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -262216 Simple 74145715 C . Benign/Likely benign 2 2 not specified;Cone-Rod Dystrophy, Recessive 2016-10-17 -9.0 1.0 Benign/Likely benign 0 -262218 Simple 7086200 T . Benign/Likely benign 2 2 not specified;Cone-Rod Dystrophy, Recessive 2016-10-17 -9.0 1.0 Benign/Likely benign 0 -262219 Simple 4933977 T . Benign/Likely benign 2 1 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 . 1.0 . 0 -262220 Simple 79716342 A . Benign 2 1 not specified;Ciliary dyskinesia, primary, 27 2017-08-14 . 0.0 . 0 -262221 Simple 78877829 T . Benign 2 1 not specified;Ciliary dyskinesia, primary, 27 2017-08-14 . 0.0 . 0 -262223 Simple 16855642 T . Benign/Likely benign 2 1 not specified;Combined Pituitary Hormone Deficiency, Dominant 2016-06-14 . 1.0 . 0 -262224 Simple 3806302 T . Benign/Likely benign 2 1 not specified;Combined Pituitary Hormone Deficiency, Dominant 2016-06-14 . 1.0 . 0 -262225 Simple 7536561 G . Benign 2 1 not specified;Combined Pituitary Hormone Deficiency, Dominant 2016-06-14 . 1.0 . 0 -262232 Simple 34376836 A . Benign 2 1 Brown-Vialetto-Van Laere syndrome 1;not specified 2017-06-07 . 0.0 . 0 -262236 Simple 16992990 A . Benign 2 1 Brown-Vialetto-Van Laere syndrome 1;not specified 2017-08-05 . 0.0 . 0 -262242 Simple 139486822 A . Benign/Likely benign 2 1 Brown-Vialetto-Van Laere syndrome 1;not specified 2017-08-07 . 0.0 . 0 -262243 Simple 3135945 A . Benign 2 3 Aicardi Goutieres syndrome 1;Vasculopathy, retinal, with cerebral leukodystrophy;Aicardi Goutieres syndrome;not specified;Chilblain lupus erythematosus 2017-08-07 -18.0 0.6666666666666666 Benign/Likely benign 1 -262246 Simple 10774775 T . Benign 2 5 Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever;Methylmalonic acidemia;not specified 2016-08-19 -30.0 1.0 Benign 0 -262247 Simple 10774774 T . Benign 2 5 Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever;Methylmalonic acidemia;not specified 2016-08-19 -30.0 1.0 Benign 0 -262249 Simple 28455091 C . Benign 2 2 not specified 2016-02-23 -10.8 2.0 Benign/Likely benign 1 -262268 Simple 112066509 T . Benign 2 1 Cranioectodermal dysplasia;not specified 2016-06-14 . 1.0 . 0 -262270 Simple 61740161 A . Benign/Likely benign 2 1 Cranioectodermal dysplasia;not specified 2016-06-14 . 1.0 . 0 -262273 Simple 56379561 A . Benign 2 1 Cranioectodermal dysplasia;not specified 2016-06-14 . 1.0 . 0 -262274 Simple 117517364 T . Likely benign 2 1 Cranioectodermal dysplasia;not specified 2016-06-14 . 1.0 . 0 -262278 Simple 571744275 A . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-02-08 -9.0 1.0 Benign/Likely benign 0 -262280 Simple 140559450 A . Likely benign 2 1 not specified 2017-11-06 . 0.0 . 0 -262281 Simple 9844788 C . Benign 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -262282 Simple 181663420 T . Likely benign 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-08-23 -6.0 0.5 Likely benign 0 -262284 Simple 41301337 T . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-10-03 -9.0 1.0 Benign/Likely benign 0 -262285 Simple 41305835 T . Likely benign 2 2 not specified;not provided 2017-05-30 -6.0 0.0 Likely benign 0 -262287 Simple 111256888 C . Benign 2 3 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2016-12-01 -16.8 1.6666666666666667 Benign/Likely benign 1 -262288 Simple 111901174 T . Benign/Likely benign 2 1 Aortic aneurysm, familial thoracic 7;not specified 2017-07-24 . 0.0 . 0 -262291 Simple 202229368 T . Likely benign 2 1 Aortic aneurysm, familial thoracic 7;not specified 2017-05-03 . 0.0 . 0 -262294 Simple 146073242 A . Likely benign 2 1 Thoracic aortic aneurysm and aortic dissection;not specified 2015-09-06 . 2.0 . 0 -262295 Simple 113035707 A . Benign 2 3 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2016-12-01 -16.8 1.6666666666666667 Benign/Likely benign 1 -262297 Simple 369494886 G . Likely benign 2 1 Aortic aneurysm, familial thoracic 7;not specified 2017-05-25 . 0.0 . 0 -262304 Simple 3802100 T . Benign 2 3 not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262305 Simple 28377945 G . Benign 2 1 not specified 2016-02-29 . 2.0 . 0 -262306 Simple 150709673 C . Benign/Likely benign 2 1 not specified 2015-12-01 . 2.0 . 0 -262308 Simple 55730247 - . Benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -35.4 1.1666666666666667 Benign 0 -262314 Simple 77641439 C . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262315 Simple 600753 C . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262319 Simple 779159076 T . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;not specified 2017-08-01 -18.0 0.0 Benign/Likely benign 1 -262320 Simple 779159076 A . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;not specified 2017-08-01 -18.0 0.0 Benign/Likely benign 1 -262355 Simple 1893788 C . Benign 2 2 Hennekam lymphangiectasia-lymphedema syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262357 Simple 115490148 C . Benign/Likely benign 2 1 Hennekam lymphangiectasia-lymphedema syndrome;not specified 2016-06-14 . 1.0 . 0 -262358 Simple 41306094 C . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262359 Simple 41312842 T . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262361 Simple 12352254 G . Benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262363 Simple 7859993 A . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262364 Simple 7860945 T . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262366 Simple 3815076 A . Benign 2 2 not specified;Severe congenital neutropenia 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262368 Simple 61747153 T . Benign/Likely benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262370 Simple 12594483 A . Benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262371 Simple 12905385 A . Benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262374 Simple 28661826 T . Benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262375 Simple 56046122 A . Benign/Likely benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262376 Simple 16957091 G . Benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262377 Simple 73410959 A . Benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262378 Simple 7167392 A . Benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262379 Simple 12594325 C . Benign/Likely benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262380 Simple 76599133 T . Benign/Likely benign 2 1 not specified;Congenital dyserythropoietic anemia 2016-06-14 . 1.0 . 0 -262384 Simple 17667728 G . Benign 2 1 Autosomal recessive polycystic kidney disease;not specified 2017-08-07 . 0.0 . 0 -262404 Simple 45517932 A . Likely benign 2 1 Autosomal recessive polycystic kidney disease;not specified 2017-02-24 . 1.0 . 0 -262426 Simple 36220239 T . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262429 Simple 36221216 T . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262430 Simple 28647808 G . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262431 Simple 36090624 A . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262432 Simple 34024143 T . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262434 Simple 36221451 A . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262435 Simple 36221472 C . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262437 Simple 685523 T . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262438 Simple 28641026 T . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262441 Simple 28503257 A . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262442 Simple 34934621 A . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262445 Simple 61751476 A . Benign/Likely benign 2 3 Upshaw-Schulman syndrome;not specified;not provided 2017-01-10 -11.7 1.3333333333333333 Benign/Likely benign 0 -262446 Simple 28571612 A . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262448 Simple 36222899 A . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262450 Simple 1055432 A . Benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262452 Simple 34054981 T . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262453 Simple 36219245 G . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262454 Simple 36219562 T . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262455 Simple 28729234 T . Benign/Likely benign 2 1 Upshaw-Schulman syndrome;not specified 2016-06-14 . 1.0 . 0 -262456 Simple 137919 C . Benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -262465 Simple 13186912 T . Benign 2 1 Primary open angle glaucoma;not specified 2016-06-14 . 1.0 . 0 -262466 Simple 11241095 G . Benign 2 1 Primary open angle glaucoma;not specified 2016-06-14 . 1.0 . 0 -262467 Simple 35629723 G . Likely benign 2 1 Primary open angle glaucoma;not specified 2016-06-14 . 1.0 . 0 -262469 Simple 11554586 A . Benign/Likely benign 2 2 Autosomal recessive centronuclear myopathy;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -262473 Simple 141119288 A . Benign/Likely benign 2 1 not specified 2017-07-19 . 0.0 . 0 -262474 Simple 12466912 G . Benign 2 1 not specified 2016-02-18 . 2.0 . 0 -262480 Simple 371258305 A . Benign/Likely benign 2 1 not specified 2017-03-17 . 0.0 . 0 -262484 Simple 35930441 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -262486 Simple 8111947 C . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262487 Simple 16981988 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-15 . 0.0 . 0 -262488 Simple 148823991 A . Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-05-07 -6.0 0.5 Likely benign 0 -262489 Simple 35461177 A . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262491 Simple 61747754 A . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262493 Simple 115124604 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -262494 Simple 13346323 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -262496 Simple 7252988 G . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -262497 Simple 74925056 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -262499 Simple 190978775 A . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-05-31 . 0.0 . 0 -262500 Simple 10416590 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -262503 Simple 56177753 T . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262505 Simple 73942222 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-11-08 -8.7 1.5 Benign/Likely benign 0 -262506 Simple 7248372 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -262509 Simple 79967289 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-07 . 0.0 . 0 -262510 Simple 35361179 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-08-15 . 0.0 . 0 -262514 Simple 79747892 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -262515 Simple 114557412 G . Benign 2 1 Bardet-Biedl syndrome;not specified 2017-05-10 . 0.0 . 0 -262524 Simple 143514947 - . Benign/Likely benign 2 1 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 . 1.0 . 0 -262527 Simple 4539722 A . Benign 2 2 not specified;Familial cold autoinflammatory syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262528 Simple 34436714 A . Benign 2 2 not specified;Familial cold autoinflammatory syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262529 Simple 34971363 C . Benign 2 1 not specified;Familial cold autoinflammatory syndrome 2016-06-14 . 1.0 . 0 -262530 Simple 12460528 T . Benign 2 2 not specified;Familial cold autoinflammatory syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262531 Simple 12460528 A . Benign 2 2 not specified;Familial cold autoinflammatory syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262532 Simple 141245482 A . Benign/Likely benign 2 2 Familial cold autoinflammatory syndrome 2;not specified;Familial cold autoinflammatory syndrome 2017-05-24 -9.0 0.5 Benign/Likely benign 0 -262533 Simple 142063194 C . Benign/Likely benign 2 2 Familial cold autoinflammatory syndrome 2;not specified;Familial cold autoinflammatory syndrome 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -262534 Simple 2779500 G . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262535 Simple 7023244 T . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262536 Simple 10810249 A . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262537 Simple 35870000 A . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262538 Simple 10738380 C . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262539 Simple 2131880 T . Benign/Likely benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262540 Simple 2101770 A . Benign/Likely benign 2 2 Marles Greenberg Persaud syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -262541 Simple 10733289 A . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262542 Simple 1032474 G . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262543 Simple 17219005 T . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262544 Simple 4741426 G . Benign/Likely benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262545 Simple 10961689 G . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262546 Simple 2818940 C . Benign 2 1 Marles Greenberg Persaud syndrome;not specified 2016-06-14 . 1.0 . 0 -262548 Simple 376357696 T . Likely benign 2 2 Multiple fibrofolliculomas;not specified 2016-11-02 -6.0 1.0 Likely benign 0 -262549 Simple 114970273 C . Benign 2 2 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262550 Simple 112087763 G . Benign/Likely benign 2 1 not specified;Heterotaxy, visceral, 6, autosomal 2017-07-19 . 0.0 . 0 -262554 Simple 180778332 C . Benign/Likely benign 2 1 not specified;Heterotaxy, visceral, 6, autosomal 2017-08-12 . 0.0 . 0 -262563 Simple 1054737 A . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262565 Simple 4072407 G . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262566 Simple 7423300 G . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262567 Simple 34094 C . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -262570 Simple 61747067 G . Benign/Likely benign 2 1 Native American myopathy;not specified 2017-07-21 . 0.0 . 0 -262571 Simple 61739642 T . Benign 2 1 Native American myopathy;not specified 2017-07-14 . 0.0 . 0 -262573 Simple 146313451 A . Benign/Likely benign 2 1 Native American myopathy;not specified 2017-07-03 . 0.0 . 0 -262575 Simple 76667525 T . Benign 2 1 Native American myopathy;not specified 2017-07-31 . 0.0 . 0 -262576 Simple 76823783 A . Benign 2 1 Native American myopathy;not specified 2017-07-31 . 0.0 . 0 -262577 Simple 115276341 C . Benign 2 1 Native American myopathy;not specified 2017-07-14 . 0.0 . 0 -262580 Simple 72934713 T . Benign/Likely benign 2 1 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 . 1.0 . 0 -262583 Simple 33997857 A . Benign/Likely benign 2 1 not specified;Acute Recurrent Myoglobinuria 2016-06-14 . 1.0 . 0 -262587 Simple 4669781 T . Benign/Likely benign 2 2 not specified;Acute Recurrent Myoglobinuria 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -262591 Simple 61732581 C . Benign/Likely benign 2 2 not specified;Acute Recurrent Myoglobinuria 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -262594 Simple 75945731 T . Benign/Likely benign 2 1 not specified;Acute Recurrent Myoglobinuria 2016-06-14 . 1.0 . 0 -262595 Simple 59909741 A . Benign/Likely benign 2 1 not specified;Acute Recurrent Myoglobinuria 2016-06-14 . 1.0 . 0 -262597 Simple 886038732 - . Benign/Likely benign 2 1 not specified;Acute Recurrent Myoglobinuria 2016-06-14 . 1.0 . 0 -262598 Simple 79233817 A . Benign/Likely benign 2 1 not specified;Hypohidrotic Ectodermal Dysplasia, Recessive 2016-06-14 . 1.0 . 0 -262600 Simple 966365 A . Benign 2 2 not specified;Hypohidrotic Ectodermal Dysplasia, Recessive 2016-06-30 -12.0 1.0 Benign/Likely benign 1 -262601 Simple 114632254 T . Benign 2 2 not specified;Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 2017-07-19 -12.0 0.5 Benign/Likely benign 1 -262602 Simple 604070 T . Benign/Likely benign 2 2 not specified;Hypohidrotic Ectodermal Dysplasia, Recessive 2016-12-25 -9.0 1.0 Benign/Likely benign 0 -262603 Simple 76269601 T . Benign/Likely benign 2 5 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -27.0 1.0 Benign 1 -262606 Simple 58869180 C . Benign 2 1 not specified 2016-08-01 . 1.0 . 0 -262608 Simple 6850875 C . Benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-08-08 -18.0 0.6666666666666666 Benign/Likely benign 1 -262609 Simple 73198153 G . Benign 2 2 not specified;Ellis-van Creveld Syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262610 Simple 730469 C . Benign 2 2 not specified;Ellis-van Creveld Syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262611 Simple 60121553 C . Benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-08-07 -18.0 0.6666666666666666 Benign/Likely benign 1 -262612 Simple 16837501 T . Likely benign 2 1 not specified;Ellis-van Creveld Syndrome 2016-06-14 . 1.0 . 0 -262615 Simple 60809236 A . Benign/Likely benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-05-16 -15.0 0.6666666666666666 Benign/Likely benign 0 -262617 Simple 17688121 T . Benign/Likely benign 2 2 not specified;Ellis-van Creveld Syndrome 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -262618 Simple 6820907 A . Benign 2 5 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -29.4 1.2 Benign 0 -262620 Simple 4689278 C . Benign 2 2 not specified;Ellis-van Creveld Syndrome 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -262625 Simple 111368844 C . Benign 2 1 not specified 2016-07-28 . 1.0 . 0 -262628 Simple 2280424 T . Benign/Likely benign 2 1 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 . 1.0 . 0 -262629 Simple 913257 A . Benign 2 1 Geroderma osteodysplastica;not specified 2016-06-14 . 1.0 . 0 -262630 Simple 148474013 A . Benign/Likely benign 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism;not specified 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -262631 Simple 3811578 G . Benign 2 1 Renal hamartomas nephroblastomatosis and fetal gigantism;not specified 2016-06-14 . 1.0 . 0 -262632 Simple 11887184 G . Benign/Likely benign 2 1 Renal hamartomas nephroblastomatosis and fetal gigantism;not specified 2016-06-14 . 1.0 . 0 -262634 Simple 16823066 T . Benign 2 1 Bardet-Biedl syndrome;not specified 2017-05-17 . 0.0 . 0 -262636 Simple 10188609 G . Benign 2 1 Bardet-Biedl syndrome;not specified 2017-05-16 . 0.0 . 0 -262639 Simple 61736693 T . Benign 2 2 not specified;Nemaline myopathy 8 2017-08-09 -12.0 0.5 Benign/Likely benign 1 -262640 Simple 147863385 T . Benign 2 2 not specified;Nemaline myopathy 8 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -262641 Simple 146266900 A . Benign 2 2 not specified;Nemaline myopathy 8 2017-04-21 -12.0 0.5 Benign/Likely benign 1 -262642 Simple 149980411 A . Benign 2 2 not specified;Nemaline myopathy 8 2017-07-13 -12.0 0.5 Benign/Likely benign 1 -262643 Simple 142843476 - . Benign 2 1 not specified;Nemaline myopathy 8 2017-05-18 . 0.0 . 0 -262644 Simple 35033264 G . Benign 2 2 not specified;Nemaline myopathy 8 2017-08-09 -11.4 1.0 Benign/Likely benign 1 -262645 Simple 200613578 T . Benign/Likely benign 2 2 not specified;Nemaline myopathy 8 2017-04-18 -9.0 0.5 Benign/Likely benign 0 -262646 Simple 74843241 C . Benign 2 2 not specified;Nemaline myopathy 8 2017-07-20 -12.0 0.5 Benign/Likely benign 1 -262649 Simple 61742900 C . Benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-08-09 -12.0 0.5 Benign/Likely benign 1 -262657 Simple 7460625 G . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -262668 Simple 34296401 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-05-08 -9.0 0.5 Benign/Likely benign 0 -262669 Simple 309371 A . Benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-08 -12.0 0.5 Benign/Likely benign 1 -262670 Simple 17006092 A . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-05-08 -9.0 0.5 Benign/Likely benign 0 -262672 Simple 2292493 T . Benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -262674 Simple 309369 T . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -6.0 1.0 Likely benign 1 -262675 Simple 17006077 G . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -262676 Simple 192160991 C . Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -262677 Simple 74570840 T . Benign/Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -262678 Simple 112686308 T . Benign/Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -262680 Simple 10790716 A . Benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -262681 Simple 10790715 C . Benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -262682 Simple 11826299 A . Benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -262683 Simple 116102273 C . Benign/Likely benign 2 1 not specified;Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 . 1.0 . 0 -262684 Simple 59110261 G . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-06-14 . 1.0 . 0 -262686 Simple 186636 T . Benign 2 1 Hyperammonemia, type III;not specified;not provided 2016-06-14 . 1.0 . 0 -262688 Simple 228773 C . Benign 2 1 Hyperammonemia, type III;not specified;not provided 2016-06-14 . 1.0 . 0 -262690 Simple 57580125 AGGAAGGA . Benign 2 1 not specified 2014-01-29 . 4.0 . 0 -262693 Simple 79113972 T . Benign/Likely benign 2 2 Nephronophthisis;not specified 2017-08-08 -6.0 0.5 Likely benign 1 -262698 Simple 769918347 C . Likely benign 2 1 Nephronophthisis;not specified 2016-03-31 . 1.0 . 0 -262699 Simple 200046908 C . Likely benign 2 1 not specified 2017-10-27 . 0.0 . 0 -262702 Simple 11396595 AA . Benign 2 3 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -262704 Simple 11915053 C . Benign 2 1 Nephronophthisis;not specified 2017-01-12 . 1.0 . 0 -262708 Simple 142616619 G . Likely benign 2 1 not specified 2016-02-05 . 2.0 . 0 -262709 Simple 146759786 T . Likely benign 2 1 not specified 2016-11-25 . 1.0 . 0 -262710 Simple 6794496 T . Benign 2 4 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -262718 Simple 35946364 C . Benign/Likely benign 2 8 Anterior segment mesenchymal dysgenesis;Axenfeld-Rieger syndrome type 1;Iridogoniodysgenesis, dominant type;Ring dermoid of cornea;not specified;Cataract;Peters anomaly;PITX2-Related Eye Abnormalities;Axenfeld-Rieger Syndrome 2017-07-10 -27.0 0.875 Benign 1 -262719 Simple 2111833 T . Benign 2 1 Microcytic anemia;not specified 2016-06-14 . 1.0 . 0 -262720 Simple 881144 A . Benign/Likely benign 2 1 Microcytic anemia;not specified 2016-06-14 . 1.0 . 0 -262722 Simple 4820268 A . Benign 2 1 Microcytic anemia;not specified 2016-06-14 . 1.0 . 0 -262724 Simple 200434923 - . Benign 2 2 Microcytic anemia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262725 Simple 855791 G . Benign 2 1 Microcytic anemia;not specified 2016-06-14 . 1.0 . 0 -262726 Simple 2235321 A . Benign 2 1 Microcytic anemia;not specified 2016-06-14 . 1.0 . 0 -262728 Simple 2235324 C . Benign 2 1 Microcytic anemia;not specified 2016-06-14 . 1.0 . 0 -262729 Simple 11704654 T . Benign/Likely benign 2 1 Microcytic anemia;not specified 2016-06-14 . 1.0 . 0 -262730 Simple 1055574 G . Benign/Likely benign 2 2 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -262749 Simple 115967793 G . Benign 2 1 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-02-02 . 1.0 . 0 -262752 Simple 116705535 T . Likely benign 2 2 not specified;not provided 2017-06-01 -6.0 0.0 Likely benign 0 -262754 Simple 138589757 C . Benign/Likely benign 2 1 not specified;not provided 2017-05-30 . 0.0 . 0 -262759 Simple 2291151 A . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -262761 Simple 4688962 C . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262762 Simple 33929747 G . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262763 Simple 6854138 T . Benign 2 4 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-08-08 -24.0 0.75 Benign 0 -262764 Simple 899691 C . Benign 2 3 not specified 2016-12-12 -16.8 1.6666666666666667 Benign/Likely benign 1 -262765 Simple 28483498 T . Benign 2 4 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-12-12 -24.0 1.0 Benign 0 -262768 Simple 1383180 A . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262769 Simple 11737221 T . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262770 Simple 2291157 C . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -262771 Simple 2279252 A . Benign/Likely benign 2 5 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-06-16 -24.0 0.8 Benign 1 -262772 Simple 140546984 T . Likely benign 2 1 not specified 2016-05-16 . 1.0 . 0 -262774 Simple 1031919 C . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262775 Simple 1064793555 - . Benign/Likely benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-10-29 -18.0 0.6666666666666666 Benign/Likely benign 0 -262776 Simple 35870680 G . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -262777 Simple 115976359 A . Benign/Likely benign 2 4 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-02-13 -18.0 1.0 Benign/Likely benign 0 -262778 Simple 2279250 G . Benign 2 1 not specified 2016-03-03 . 2.0 . 0 -262779 Simple 16837598 T . Benign 2 4 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-07-28 -24.0 0.75 Benign 0 -262781 Simple 113571700 T . Benign 2 1 not specified 2016-08-01 . 1.0 . 0 -262782 Simple 4689313 T . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262784 Simple 2286342 G . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262785 Simple 2286343 T . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -262786 Simple 4688963 C . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -262787 Simple 3795270 T . Benign/Likely benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -262791 Simple 11586985 T . Benign/Likely benign 2 1 Zellweger syndrome;not specified 2016-06-14 . 1.0 . 0 -262798 Simple 113694988 A . Benign 2 1 not specified 2015-09-03 . 2.0 . 0 -262801 Simple 2514681 G . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -262802 Simple 6511 C . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -262803 Simple 1788190 A . Benign 2 1 not specified 2016-03-28 . 1.0 . 0 -262806 Simple 34702224 C . Benign 2 1 not specified 2016-03-30 . 1.0 . 0 -262808 Simple 61386831 T . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262809 Simple 60945277 C . Benign 2 2 Cone dystrophy 3;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -262810 Simple 7966806 C . Benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262811 Simple 758160 T . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262812 Simple 2286372 A . Benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262813 Simple 115228472 C . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262814 Simple 11836202 A . Benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262815 Simple 73038195 C . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262816 Simple 62621429 T . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262818 Simple 80092457 T . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262819 Simple 60194757 A . Benign/Likely benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262820 Simple 10735005 C . Benign 2 1 Cone dystrophy 3;not specified 2016-06-14 . 1.0 . 0 -262822 Simple 76979001 T . Benign/Likely benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262823 Simple 10198064 C . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262824 Simple 7560008 T . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262825 Simple 10498030 C . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262826 Simple 71428357 T . Benign/Likely benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262827 Simple 34351934 G . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262829 Simple 16853022 T . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262831 Simple 10498027 A . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262832 Simple 145031776 A . Benign/Likely benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262834 Simple 17501837 T . Benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262835 Simple 11666601 A . Benign/Likely benign 2 1 not specified;Congenital ichthyosiform erythroderma 2016-06-14 . 1.0 . 0 -262842 Simple 200743968 G . Benign/Likely benign 2 1 not specified;Nephronophthisis 16 2017-05-05 . 0.0 . 0 -262845 Simple 115807585 T . Benign 2 1 not specified;Nephronophthisis 16 2017-08-02 . 0.0 . 0 -262848 Simple 79414550 C . Benign 2 1 not specified;Nephronophthisis 16 2017-08-02 . 0.0 . 0 -262853 Simple 75634918 T . Benign 2 1 not specified;Nephronophthisis 16 2017-08-02 . 0.0 . 0 -262856 Simple 41283630 A . Benign 2 1 not specified;Nephronophthisis 16 2017-07-11 . 0.0 . 0 -262861 Simple 146168804 T . Benign/Likely benign 2 1 not specified 2016-05-20 . 1.0 . 0 -262863 Simple 2344209 A . Benign 2 1 not specified 2016-02-19 . 2.0 . 0 -262866 Simple 201304841 A . Benign/Likely benign 2 1 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-03-30 . 0.0 . 0 -262867 Simple 149905649 T . Benign 2 1 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-07-25 . 0.0 . 0 -262868 Simple 77513082 T . Benign 2 1 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-02-15 . 1.0 . 0 -262875 Simple 2699425 C . Benign 2 1 not specified 2016-01-19 . 2.0 . 0 -262885 Simple 191981243 C . Benign/Likely benign 2 1 not specified 2016-09-30 . 1.0 . 0 -262891 Simple 138148221 T . Benign/Likely benign 2 3 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-06-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -262904 Simple 2495482 G . Benign/Likely benign 2 5 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-22 -23.4 1.0 Benign/Likely benign 0 -262908 Simple 2495477 G . Benign/Likely benign 2 5 Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified 2017-06-01 -23.4 1.0 Benign/Likely benign 0 -262911 Simple 140888559 T . Benign/Likely benign 2 1 not specified 2015-06-04 . 2.0 . 0 -262914 Simple 112386711 T . Benign 2 2 not specified 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -262920 Simple 35194418 A . Benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-18 . 1.0 . 0 -262922 Simple 2706793 T . Benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -262928 Simple 3809797 C . Benign 2 1 Nephronophthisis;not specified 2016-06-14 . 1.0 . 0 -262933 Simple 8692 T . Benign 2 1 Primary ciliary dyskinesia;not specified 2016-06-14 . 1.0 . 0 -262938 Simple 148674729 G . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-12-13 -11.4 1.5 Benign/Likely benign 0 -262939 Simple 141074491 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-04-25 . 0.0 . 0 -262941 Simple 112114400 T . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-04 . 0.0 . 0 -262943 Simple 141149453 C . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-04-06 . 0.0 . 0 -262950 Simple 4150188 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-27 . 0.0 . 0 -262958 Simple 151099638 A . Benign 2 1 Primary ciliary dyskinesia;not specified 2017-07-28 . 0.0 . 0 -262973 Simple 374226135 G . Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-10-17 . 1.0 . 0 -262978 Simple 1401333 C . Benign/Likely benign 2 1 Primary ciliary dyskinesia;not specified 2016-06-14 . 1.0 . 0 -262991 Simple 201591536 A . Likely benign 2 1 Neurofibromatosis, type 2;not specified 2016-06-14 . 1.0 . 0 -262992 Simple 373442542 A . Likely benign 2 1 Neurofibromatosis, type 2;not specified 2016-07-10 . 1.0 . 0 -262995 Simple 374911526 T . Likely benign 2 1 Neurofibromatosis, type 2;not specified 2017-06-30 . 0.0 . 0 -262998 Simple 6416452 G . Benign 2 1 not specified;Amelogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -262999 Simple 17730281 A . Benign/Likely benign 2 1 not specified;Amelogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -263000 Simple 34828731 - . Benign/Likely benign 2 1 not specified;Amelogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -263001 Simple 690346 C . Benign 2 1 not specified;Amelogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -263002 Simple 690337 C . Benign 2 1 not specified;Amelogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -263003 Simple 551225 A . Benign/Likely benign 2 1 not specified;Amelogenesis Imperfecta, Recessive 2016-06-14 . 1.0 . 0 -263004 Simple 2819590 T . Benign 2 1 Multiple sulfatase deficiency;not specified 2016-06-14 . 1.0 . 0 -263010 Simple 9852367 T . Benign/Likely benign 2 1 Multiple sulfatase deficiency;not specified 2016-06-14 . 1.0 . 0 -263024 Simple 3736062 A . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -263032 Simple 55667289 A . Likely benign 2 1 not specified;not provided 2016-07-13 . 1.0 . 0 -263039 Simple 448012 C . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -263064 Simple 3736061 A . Benign 2 1 not specified 2016-03-29 . 1.0 . 0 -263073 Simple 73010484 C . Benign 2 2 not specified;Bruck Syndrome 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -263074 Simple 4681297 T . Benign 2 2 not specified;Bruck Syndrome 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -263086 Simple 7051368 G . Benign/Likely benign 2 1 not specified;Infantile Nystagmus 2016-06-14 . 1.0 . 0 -263087 Simple 6637934 T . Benign/Likely benign 2 1 not specified;Infantile Nystagmus 2016-06-14 . 1.0 . 0 -263088 Simple 5977623 G . Benign/Likely benign 2 1 not specified;Infantile Nystagmus 2016-06-14 . 1.0 . 0 -263089 Simple 5930546 A . Benign/Likely benign 2 1 not specified;Infantile Nystagmus 2016-06-14 . 1.0 . 0 -263090 Simple 5977625 A . Benign/Likely benign 2 1 not specified;Infantile Nystagmus 2016-06-14 . 1.0 . 0 -263091 Simple 34638481 A . Benign 2 1 Peters plus syndrome;not specified 2017-05-25 . 0.0 . 0 -263092 Simple 143710815 C . Likely benign 2 2 Angiokeratoma corporis diffusum with arteriovenous fistulas;Cerebral cavernous malformation;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -263093 Simple 140009885 T . Likely benign 2 2 Angiokeratoma corporis diffusum with arteriovenous fistulas;Cerebral cavernous malformation;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -263094 Simple 150912644 C . Likely benign 2 3 Angiokeratoma corporis diffusum with arteriovenous fistulas;Cerebral cavernous malformation;not specified 2017-05-30 -9.0 0.6666666666666666 Benign/Likely benign 1 -263098 Simple 11542682 C . Benign 2 3 Angiokeratoma corporis diffusum with arteriovenous fistulas;Cerebral cavernous malformation;not specified 2017-01-30 -18.0 1.0 Benign/Likely benign 1 -263102 Simple 761174773 A . Likely benign 2 1 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-05-04 . 0.0 . 0 -263104 Simple 140951453 A . Benign/Likely benign 2 5 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-08-07 -18.0 0.6 Benign/Likely benign 0 -263105 Simple 745650751 G . Likely benign 2 1 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-07-19 . 0.0 . 0 -263107 Simple 140124989 T . Benign/Likely benign 2 5 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-07-31 -17.7 1.0 Benign/Likely benign 0 -263108 Simple 144310369 T . Benign/Likely benign 2 4 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive 2017-06-01 -15.0 0.75 Benign/Likely benign 0 -263109 Simple 495225 A . Benign 2 2 Short stature, idiopathic, autosomal;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -263110 Simple 572169 T . Benign 2 1 Short stature, idiopathic, autosomal;not specified 2016-06-14 . 1.0 . 0 -263111 Simple 61756571 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -263112 Simple 35195153 G . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -263113 Simple 61753524 T . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-08 -8.7 1.0 Benign/Likely benign 0 -263114 Simple 11981364 T . Benign/Likely benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -263116 Simple 6964382 T . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -263117 Simple 11773504 A . Benign/Likely benign 2 1 Bardet-Biedl syndrome;not specified 2016-06-14 . 1.0 . 0 -263119 Simple 73688160 A . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-05-17 -9.0 0.5 Benign/Likely benign 0 -263121 Simple 28622379 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -263122 Simple 34209904 C . Benign/Likely benign 2 3 Bardet-Biedl syndrome;not specified;not provided 2017-08-08 -12.0 0.3333333333333333 Benign/Likely benign 0 -263123 Simple 115809567 A . Benign 2 2 Bardet-Biedl syndrome;not specified 2017-06-07 -12.0 0.0 Benign/Likely benign 1 -263128 Simple 747398844 T . Likely benign 2 1 not specified 2016-07-14 . 1.0 . 0 -263130 Simple 4498440 G . Benign/Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -263138 Simple 1110060 G . Benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -263139 Simple 149814240 T . Benign/Likely benign 2 1 not specified 2015-08-04 . 2.0 . 0 -263142 Simple 78199895 T . Benign 2 1 not specified 2016-11-04 . 1.0 . 0 -263145 Simple 35820949 AG . Benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -263157 Simple 3121561 T . Benign 2 1 not specified 2016-02-01 . 2.0 . 0 -263158 Simple 138031468 T . Benign/Likely benign 2 4 not specified;not provided;Myasthenic syndrome, congenital, 8 2017-08-08 -14.7 1.0 Benign/Likely benign 0 -263162 Simple 147346337 A . Benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-08-04 . 0.0 . 0 -263163 Simple 138288952 A . Benign/Likely benign 2 3 not specified;Myasthenic syndrome, congenital, 8 2017-08-11 -15.0 0.6666666666666666 Benign/Likely benign 0 -263165 Simple 79016973 A . Benign/Likely benign 2 2 not specified;not provided;Myasthenic syndrome, congenital, 8 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -263167 Simple 139886237 A . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-07-19 . 0.0 . 0 -263169 Simple 140764403 A . Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2016-12-01 . 1.0 . 0 -263173 Simple 9697293 G . Benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-08-11 . 0.0 . 0 -263176 Simple 118105080 T . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-07-25 . 0.0 . 0 -263179 Simple 3813188 A . Benign/Likely benign 2 2 not specified;not provided;Myasthenic syndrome, congenital, 8 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -263181 Simple 3128102 C . Benign 2 1 not specified 2016-01-19 . 2.0 . 0 -263182 Simple 142620337 T . Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-05-11 . 0.0 . 0 -263183 Simple 201346452 T . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-07-25 -9.0 0.0 Benign/Likely benign 0 -263185 Simple 144620006 T . Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-07-28 -6.0 0.5 Likely benign 0 -263186 Simple 112917612 C . Benign 2 1 not specified 2016-09-20 . 1.0 . 0 -263188 Simple 2275813 T . Benign 2 1 not specified 2016-01-19 . 2.0 . 0 -263189 Simple 113020870 T . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-06-13 . 0.0 . 0 -263193 Simple 142286944 G . Benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -263194 Simple 147990356 T . Benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-07-14 -12.0 0.5 Benign/Likely benign 1 -263195 Simple 145444272 A . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-08-10 -9.0 0.0 Benign/Likely benign 0 -263197 Simple 112073270 T . Benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-05-30 . 0.0 . 0 -263198 Simple 373058941 A . Likely benign 2 1 not specified 2016-10-13 . 1.0 . 0 -263202 Simple 191270495 G . Benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-08-11 . 0.0 . 0 -263203 Simple 536085218 T . Benign/Likely benign 2 1 not specified;Myasthenic syndrome, congenital, 8 2017-08-02 . 0.0 . 0 -263204 Simple 200607541 T . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-08-11 -8.7 1.0 Benign/Likely benign 0 -263207 Simple 12153162 A . Benign 2 1 Distal myopathy;not specified 2016-06-14 . 1.0 . 0 -263208 Simple 80036770 G . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis 21;Distal myopathy;not specified 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -263210 Simple 141030299 A . Likely benign 2 1 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 . 1.0 . 0 -263218 Simple 75853379 A . Benign/Likely benign 2 1 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 . 1.0 . 0 -263219 Simple 9904366 T . Benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 3;not specified 2017-07-31 . 0.0 . 0 -263220 Simple 2290770 A . Benign/Likely benign 2 2 Hemophagocytic lymphohistiocytosis, familial, 3;Familial hemophagocytic lymphohistiocytosis;not specified 2017-07-15 -9.0 0.5 Benign/Likely benign 0 -263222 Simple 17581728 T . Benign/Likely benign 2 2 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -263226 Simple 3217698 GG . Benign 2 1 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 . 1.0 . 0 -263228 Simple 1135688 C . Benign 2 2 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -263234 Simple 35037984 A . Benign/Likely benign 2 3 Hemophagocytic lymphohistiocytosis, familial, 3;Familial hemophagocytic lymphohistiocytosis;not specified 2017-08-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -263235 Simple 3744007 A . Benign/Likely benign 2 1 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 . 1.0 . 0 -263238 Simple 35628234 T . Benign/Likely benign 2 1 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 . 1.0 . 0 -263240 Simple 7210574 C . Benign 2 2 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -263241 Simple 61753922 G . Benign/Likely benign 2 2 Hemophagocytic lymphohistiocytosis, familial, 3;Familial hemophagocytic lymphohistiocytosis;not specified 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -263246 Simple 61754871 C . Benign 2 1 Hemophagocytic lymphohistiocytosis, familial, 3;not specified 2017-07-07 . 0.0 . 0 -263247 Simple 7223416 G . Benign 2 2 Familial hemophagocytic lymphohistiocytosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -263250 Simple 12419447 C . Benign 2 3 Segawa syndrome, autosomal recessive;not specified 2017-04-14 -18.0 0.6666666666666666 Benign/Likely benign 1 -263251 Simple 11564717 A . Benign/Likely benign 2 3 not specified;Dystonia;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant/Recessive 2017-07-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -263252 Simple 34510659 T . Benign/Likely benign 2 2 Segawa syndrome, autosomal recessive;not specified;Dystonia 2017-06-10 -9.0 0.5 Benign/Likely benign 0 -263253 Simple 7950050 G . Benign/Likely benign 2 2 Segawa syndrome, autosomal recessive;not specified;Dystonia 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -263254 Simple 76240471 T . Benign/Likely benign 2 3 Segawa syndrome, autosomal recessive;not specified;Dystonia 2017-07-25 -14.4 1.0 Benign/Likely benign 0 -263258 Simple 6357 T . Benign 2 2 Segawa syndrome, autosomal recessive;not specified 2017-04-14 -12.0 0.5 Benign/Likely benign 1 -263259 Simple 41302107 C . Benign/Likely benign 2 3 Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -18.0 1.0 Benign/Likely benign 0 -263261 Simple 2228645 T . Benign/Likely benign 2 2 Brugada syndrome;not specified;Cardiovascular phenotype 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -263263 Simple 4314963 T . Benign/Likely benign 2 1 Brugada syndrome;not specified 2016-06-14 . 1.0 . 0 -263271 Simple 2296828 C . Benign 2 1 not specified 2016-04-25 . 1.0 . 0 -263285 Simple 77554103 A . Benign/Likely benign 2 1 not specified;Hereditary Multiple Osteochondromatosis 2016-06-14 . 1.0 . 0 -263297 Simple 13146272 A . Benign 2 2 Bietti crystalline corneoretinal dystrophy;not specified;Corneal Dystrophy, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -263298 Simple 34745240 A . Benign/Likely benign 2 2 Bietti crystalline corneoretinal dystrophy;not specified;Corneal Dystrophy, Recessive 2016-06-14 -6.0 1.0 Likely benign 1 -263299 Simple 1868464 A . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -263300 Simple 9548509 T . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -263301 Simple 9532292 G . Benign 2 1 Cryptophthalmos syndrome;not specified 2016-06-14 . 1.0 . 0 -263314 Simple 146136277 G . Benign/Likely benign 2 4 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified;not provided 2017-08-09 -14.7 0.75 Benign/Likely benign 0 -263316 Simple 115750596 A . Benign/Likely benign 2 4 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-06-20 -20.4 0.75 Benign/Likely benign 0 -263317 Simple 8079308 A . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -263318 Simple 74349463 C . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -263324 Simple 34781844 C . Likely benign 2 3 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection 2017-06-27 -8.7 1.0 Benign/Likely benign 1 -263326 Simple 747419767 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-08 -0.51 2.0 Uncertain significance 0 -263333 Simple 201256839 T . Benign/Likely benign 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-26 -12.0 0.6666666666666666 Benign/Likely benign 0 -263336 Simple 139155480 T . Benign 2 3 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2016-10-12 -16.8 1.6666666666666667 Benign/Likely benign 1 -263343 Simple 5748469 A . Benign 2 2 not specified;Cardiovascular phenotype 2016-09-23 -11.4 1.5 Benign/Likely benign 1 -263358 Simple 35544159 A . Benign 2 3 Primary dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-07-26 -17.4 1.0 Benign/Likely benign 1 -263369 Simple 1139793 G . Benign 2 2 not specified;Cardiovascular phenotype 2016-09-09 -11.4 1.5 Benign/Likely benign 1 -263370 Simple 5748470 A . Benign 2 2 not specified;Cardiovascular phenotype 2016-09-23 -11.4 1.5 Benign/Likely benign 1 -263383 Simple 2301558 T . Benign 2 2 not specified;Cardiovascular phenotype 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -263385 Simple 1139795 T . Benign 2 2 not specified;Cardiovascular phenotype 2016-09-22 -11.4 1.5 Benign/Likely benign 1 -263386 Simple 141538225 A . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection 2017-05-08 -8.4 1.5 Benign/Likely benign 0 -263389 Simple 773052594 A . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-09-02 -6.0 1.0 Likely benign 0 -263393 Simple 138573101 A . Benign/Likely benign 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-01-03 -14.4 1.3333333333333333 Benign/Likely benign 0 -263394 Simple 150943863 T . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-25 -6.0 0.5 Likely benign 0 -263396 Simple 886038785 G . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2016-06-18 -0.48 3.0 Uncertain significance 0 -263398 Simple 886038786 T . Likely pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2017-04-05 5.7 1.0 Likely pathogenic 0 -263409 Simple 11541479 A . Benign 2 2 not specified;Cardiovascular phenotype 2016-09-23 -11.4 1.5 Benign/Likely benign 1 -263411 Simple 5992495 G . Benign 2 2 not specified;Cardiovascular phenotype 2016-09-23 -11.4 1.5 Benign/Likely benign 1 -263413 Simple 139881155 T . Benign/Likely benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-17 -14.4 0.6666666666666666 Benign/Likely benign 0 -263416 Simple 886038797 A . Pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2017-09-01 9.6 2.5 Pathogenic/Likely pathogenic 1 -263417 Simple 886038798 G . Uncertain significance 2 2 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection 2016-06-14 -0.48 3.0 Uncertain significance 0 -263423 Simple 754221948 A . Pathogenic/Likely pathogenic 2 2 not provided;Cardiovascular phenotype 2017-05-12 7.8 2.5 Likely pathogenic 1 -263424 Simple 73270015 G . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;Cardiovascular phenotype 2017-08-08 -17.4 1.0 Benign/Likely benign 0 -263425 Simple 34995247 A . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;Cardiovascular phenotype 2017-07-28 -17.4 1.0 Benign/Likely benign 0 -263430 Simple 777832794 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -263438 Simple 370109572 A . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2017-01-15 -0.75 2.6666666666666665 Uncertain significance 0 -263446 Simple 141156177 G . Benign/Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-03-06 -9.0 0.5 Benign/Likely benign 0 -263451 Simple 369275573 T . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-07-10 -0.78 2.0 Uncertain significance 0 -263452 Simple 751640052 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-10-04 -0.45 3.5 Uncertain significance 0 -263453 Simple 886038810 - . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2017-07-10 -0.6599999999999999 3.3333333333333335 Uncertain significance 0 -263457 Simple 143566058 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2015-11-03 -4.5 3.5 Likely benign 0 -263463 Simple 766473100 G . Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2016-08-03 -4.8 3.0 Likely benign 0 -263465 Simple 376643618 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2016-11-10 -0.48 3.0 Uncertain significance 0 -263473 Simple 149840991 T . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2016-10-31 -10.200000000000001 2.6666666666666665 Benign/Likely benign 0 -263475 Simple 29341 T . Benign/Likely benign 2 3 Long QT syndrome;Cardiovascular phenotype 2017-08-03 -14.4 1.0 Benign/Likely benign 0 -263478 Simple 750763255 T . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;Cardiovascular phenotype 2016-08-24 -0.48 3.0 Uncertain significance 0 -263479 Simple 374022393 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-04-21 -0.48 2.5 Uncertain significance 0 -263480 Simple 201390600 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-08-03 -0.48 2.5 Uncertain significance 0 -263490 Simple 370105333 G . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2016-12-25 -9.3 2.6666666666666665 Benign/Likely benign 0 -263493 Simple 374445709 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-11-14 -0.48 3.0 Uncertain significance 0 -263501 Simple 769713919 G . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2016-03-28 -0.75 2.6666666666666665 Uncertain significance 0 -263505 Simple 199815885 A . Benign/Likely benign 2 3 Familial hypertrophic cardiomyopathy 10;not specified;Cardiovascular phenotype 2017-07-20 -11.7 0.6666666666666666 Benign/Likely benign 0 -263508 Simple 745473249 T . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;Cardiovascular phenotype 2017-04-10 -0.48 2.5 Uncertain significance 0 -263518 Simple 149241435 G . Uncertain significance 2 3 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2016-11-04 -0.78 2.3333333333333335 Uncertain significance 0 -263523 Simple 794728038 A . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not provided 2017-05-31 -0.87 1.0 Uncertain significance 0 -263530 Simple 765839032 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-06-25 -0.51 2.5 Uncertain significance 0 -263536 Simple 747654057 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-06-05 -0.48 2.5 Uncertain significance 0 -263537 Simple 370480927 G . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-04-11 -7.8 2.5 Likely benign 1 -263541 Simple 149946443 A . Benign/Likely benign 2 3 Long QT syndrome;not provided;Cardiovascular phenotype 2017-06-28 -14.4 1.0 Benign/Likely benign 0 -263547 Simple 769485633 T . Uncertain significance 2 3 Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -263553 Simple 150671256 T . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2016-09-09 -8.4 1.5 Benign/Likely benign 0 -263555 Simple 72646953 A . Benign 2 2 DiGeorge sequence;Cardiovascular phenotype 2017-08-04 -11.4 1.0 Benign/Likely benign 1 -263563 Simple 752873618 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;Cardiovascular phenotype 2016-04-01 -0.51 2.5 Uncertain significance 0 -263564 Simple 776190494 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-09-22 -0.48 3.0 Uncertain significance 0 -263565 Simple 780073797 C . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-09-22 -0.48 3.0 Uncertain significance 0 -263576 Simple 199818953 G . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-07-21 -5.1 2.5 Likely benign 0 -263587 Simple 371700934 C . Likely benign 2 2 Primary dilated cardiomyopathy;Cardiovascular phenotype 2017-03-02 -5.1 2.5 Likely benign 0 -263588 Simple 750853901 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-09-10 -0.48 3.0 Uncertain significance 0 -263589 Simple 150054973 C . Uncertain significance 2 2 Rasopathy;Cardiovascular phenotype 2016-06-23 -0.51 2.5 Uncertain significance 0 -263591 Simple 143297401 T . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-09 -5.1 2.0 Likely benign 0 -263593 Simple 267599069 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-04-25 -5.1 2.0 Likely benign 0 -263594 Simple 764249439 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-04-25 -0.51 2.0 Uncertain significance 0 -263597 Simple 371178429 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2015-09-17 -4.800000000000001 3.0 Likely benign 0 -263598 Simple 761700877 A . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2016-09-15 -8.1 2.5 Likely benign 1 -263610 Simple 374472044 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-11-17 -5.1 2.5 Likely benign 0 -263613 Simple 748073251 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-02-15 -4.800000000000001 3.0 Likely benign 0 -263615 Simple 886038861 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -263618 Simple 142553634 C . Benign/Likely benign 2 2 Brugada syndrome;Cardiovascular phenotype 2017-06-14 -8.1 2.0 Likely benign 1 -263628 Simple 116652427 A . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-05-09 -12.0 0.6666666666666666 Benign/Likely benign 0 -263633 Simple 373623340 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-06-19 -0.51 2.0 Uncertain significance 0 -263636 Simple 201971987 G . Uncertain significance 2 3 Primary dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-07-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -263650 Simple 886038873 A . Likely benign 2 2 Primary dilated cardiomyopathy;Cardiovascular phenotype 2016-11-03 -5.1 2.5 Likely benign 0 -263656 Simple 113645050 T . Benign/Likely benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-05-08 -13.5 2.0 Benign/Likely benign 0 -263657 Simple 376555665 G . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiovascular phenotype 2016-05-31 -0.51 2.5 Uncertain significance 0 -263661 Simple 752558753 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-05-11 -5.1 2.5 Likely benign 0 -263663 Simple 201395913 C . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-06-19 -8.1 1.6666666666666667 Likely benign 0 -263664 Simple 544224850 A . Likely benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;Cardiovascular phenotype 2017-07-27 -5.1 2.0 Likely benign 0 -263665 Simple 368450420 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-05-18 -13.5 2.0 Benign/Likely benign 0 -263667 Simple 182857388 A . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;Cardiovascular phenotype 2017-02-08 -8.1 2.5 Likely benign 1 -263669 Simple 765148928 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-05-26 -0.51 2.0 Uncertain significance 0 -263681 Simple 368979661 A . Likely benign 2 2 Brugada syndrome 7;Cardiovascular phenotype 2016-11-30 -5.7 1.5 Likely benign 0 -263695 Simple 372967546 A . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-12-01 -8.1 2.5 Likely benign 1 -263696 Simple 147511977 A . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-12-01 -8.1 2.5 Likely benign 1 -263698 Simple 886038900 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2016-08-24 -0.51 2.5 Uncertain significance 0 -263709 Simple 149678604 C . Uncertain significance 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-07-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -263711 Simple 148365503 T . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-10-05 -5.1 2.5 Likely benign 0 -263713 Simple 773211607 T . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2017-04-26 -0.78 2.0 Uncertain significance 0 -263714 Simple 745708104 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-08-03 -5.1 2.5 Likely benign 0 -263715 Simple 775609788 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-08-03 -5.1 2.5 Likely benign 0 -263717 Simple 886038905 C . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2016-09-14 -0.51 2.5 Uncertain significance 0 -263721 Simple 374914334 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-07-29 -0.51 2.5 Uncertain significance 0 -263722 Simple 756707031 C . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-08-07 -0.51 2.0 Uncertain significance 0 -263724 Simple 767989384 C . Benign/Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2016-11-13 -11.1 2.0 Benign/Likely benign 0 -263726 Simple 139992576 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-07-12 -0.51 2.0 Uncertain significance 0 -263736 Simple 762327995 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-07-18 -5.1 2.5 Likely benign 0 -263737 Simple 775159757 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-02-26 -4.800000000000001 3.0 Likely benign 0 -263739 Simple 754921704 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-11-22 -5.1 2.5 Likely benign 0 -263740 Simple 376944801 G . Likely benign 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype 2016-12-19 -9.0 1.0 Benign/Likely benign 1 -263744 Simple 368065584 T . Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-03-06 -5.1 2.0 Likely benign 0 -263747 Simple 749308557 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-05-24 -5.1 2.0 Likely benign 0 -263752 Simple 370450339 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-08-30 -5.1 2.5 Likely benign 0 -263753 Simple 138788406 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-02-16 -5.1 2.5 Likely benign 0 -263755 Simple 782632671 T . Likely benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;Cardiovascular phenotype 2016-07-15 -5.1 2.5 Likely benign 0 -263764 Simple 886038916 A . Pathogenic/Likely pathogenic 2 2 not provided;Cardiovascular phenotype 2017-02-06 8.1 2.5 Likely pathogenic 1 -263765 Simple 376102257 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-08-16 -0.51 2.0 Uncertain significance 0 -263766 Simple 139910215 T . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-09-18 -11.7 1.0 Benign/Likely benign 0 -263767 Simple 149433267 G . Benign/Likely benign 2 3 Long QT syndrome;not specified;Cardiovascular phenotype 2017-09-18 -11.7 1.0 Benign/Likely benign 0 -263768 Simple 34370932 C . Benign/Likely benign 2 4 Long QT syndrome;Romano-Ward syndrome;Cardiovascular phenotype 2017-07-31 -17.4 1.0 Benign/Likely benign 0 -263770 Simple 886038918 A . Uncertain significance 2 3 Timothy syndrome;Brugada syndrome;Cardiovascular phenotype 2016-06-14 -0.8099999999999999 2.0 Uncertain significance 0 -263772 Simple 371831822 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2016-05-20 -0.51 2.5 Uncertain significance 0 -263777 Simple 759314800 G . Likely benign 2 2 Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-03-06 -5.1 2.0 Likely benign 0 -263782 Simple 779303152 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-03-27 -0.51 2.0 Uncertain significance 0 -263784 Simple 192869629 T . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-08-05 -14.4 1.0 Benign/Likely benign 0 -263791 Simple 878915392 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2016-09-16 -0.51 2.5 Uncertain significance 0 -263797 Simple 35131433 G . Benign/Likely benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-05-25 -14.4 0.6666666666666666 Benign/Likely benign 0 -263799 Simple 550995785 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-03-13 -5.1 2.0 Likely benign 0 -263808 Simple 374464810 A . Uncertain significance 2 2 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection 2017-06-16 -0.51 2.0 Uncertain significance 0 -263812 Simple 780786328 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2017-02-07 -5.1 2.5 Likely benign 0 -263815 Simple 150800734 T . Likely benign 2 3 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-19 -8.4 1.3333333333333333 Benign/Likely benign 1 -263816 Simple 757192342 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-24 -0.51 2.0 Uncertain significance 0 -263817 Simple 371636769 T . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-22 -5.7 1.0 Likely benign 0 -263819 Simple 772862676 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-19 -0.5700000000000001 1.0 Uncertain significance 0 -263828 Simple 886038939 C . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection 2017-06-27 -0.54 1.5 Uncertain significance 0 -263832 Simple 143007898 A . Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;Geleophysic dysplasia;Ectopia lentis 2016-06-14 -26.4 1.2222222222222223 Benign 2 -263833 Simple 776271431 C . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2017-05-23 -0.54 1.5 Uncertain significance 0 -263835 Simple 139610730 T . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-03 -0.84 1.0 Uncertain significance 0 -263855 Simple 886038953 T . Likely pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2016-09-01 5.4 2.0 Likely pathogenic 0 -263858 Simple 201827340 A . Benign/Likely benign 2 4 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-11 -21.0 0.75 Benign/Likely benign 0 -263861 Simple 111683983 C . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-07 -11.4 1.3333333333333333 Benign/Likely benign 0 -263862 Simple 375998236 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection 2017-03-02 -0.6 1.0 Uncertain significance 0 -263863 Simple 200213764 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection 2017-02-01 -5.4 2.0 Likely benign 0 -263870 Simple 371365065 A . Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-04-26 -5.7 1.0 Likely benign 0 -263877 Simple 138863103 T . Uncertain significance 2 4 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;Lissencephaly, Recessive 2017-05-30 -1.2 0.75 Uncertain significance 0 -263879 Simple 372561968 A . Uncertain significance 2 2 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection 2017-03-02 -0.54 2.0 Uncertain significance 0 -263884 Simple 148743922 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2017-04-05 -0.54 1.5 Uncertain significance 0 -263885 Simple 2230896 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, hydroxylysine-deficient;Thoracic aortic aneurysm and aortic dissection 2017-05-09 -13.8 1.3333333333333333 Benign/Likely benign 0 -263886 Simple 879690 C . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, hydroxylysine-deficient;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-03 -25.8 1.2 Benign 1 -263887 Simple 34032489 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, hydroxylysine-deficient;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-19 -19.8 1.25 Benign/Likely benign 0 -263888 Simple 56047641 C . Benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified;Aortic aneurysm, familial thoracic 8 2017-07-31 -16.8 1.3333333333333333 Benign/Likely benign 1 -263889 Simple 879691 G . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, hydroxylysine-deficient;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-20 -25.8 1.2 Benign 1 -263890 Simple 116344406 T . Benign/Likely benign 2 3 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-19 -10.8 1.6666666666666667 Benign/Likely benign 0 -263892 Simple 35460537 T . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, hydroxylysine-deficient;Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-20 -19.8 1.25 Benign/Likely benign 0 -263893 Simple 113994747 C . Benign 2 3 Thoracic aortic aneurysm and aortic dissection;not specified;Aortic aneurysm, familial thoracic 8 2017-07-29 -16.8 1.3333333333333333 Benign/Likely benign 1 -263894 Simple 28763925 T . Uncertain significance 2 2 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection 2016-11-08 -0.54 2.0 Uncertain significance 0 -263895 Simple 544709718 A . Uncertain significance 2 3 Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-11 -0.87 1.0 Uncertain significance 0 -263899 Simple 146682969 T . Uncertain significance 2 4 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-09-01 -1.2 0.5 Uncertain significance 0 -263902 Simple 61751539 A . Benign/Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-10-24 -11.4 1.0 Benign/Likely benign 0 -263916 Simple 55932343 T . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2017-04-23 -8.4 1.5 Benign/Likely benign 0 -263924 Simple 199817801 T . Uncertain significance 2 2 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection 2017-05-13 -0.5700000000000001 1.0 Uncertain significance 0 -263930 Simple 749315207 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection 2016-11-14 -5.7 1.5 Likely benign 0 -263932 Simple 758896854 C . Likely benign 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2017-01-20 -5.7 1.5 Likely benign 0 -263933 Simple 782219300 A . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;Cardiovascular phenotype 2017-05-27 -8.7 1.0 Benign/Likely benign 0 -263938 Simple 34878020 A . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, hydroxylysine-deficient;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-18 -26.4 1.0 Benign 1 -263940 Simple 142421063 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -263941 Simple 755492644 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-08-07 -5.7 1.0 Likely benign 0 -263958 Simple 375793297 G . Benign/Likely benign 2 2 FG syndrome;Cardiovascular phenotype 2016-10-08 -8.7 1.5 Benign/Likely benign 0 -263960 Simple 370153686 T . Likely benign 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2017-03-06 -5.7 1.0 Likely benign 0 -263962 Simple 758969419 C . Uncertain significance 2 2 Dilated cardiomyopathy 1W;Cardiovascular phenotype 2016-08-03 -0.5700000000000001 1.5 Uncertain significance 0 -263968 Simple 774095835 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection 2016-05-22 -0.5700000000000001 1.5 Uncertain significance 0 -263969 Simple 886038993 G . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -263970 Simple 766197312 A . Likely benign 2 2 Brugada syndrome;Cardiovascular phenotype 2016-09-09 -5.7 1.5 Likely benign 0 -263971 Simple 764360705 T . Likely benign 2 2 Brugada syndrome;Cardiovascular phenotype 2016-10-18 -5.7 1.5 Likely benign 0 -263982 Simple 777365708 A . Uncertain significance 2 4 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-09-11 -1.2 0.5 Uncertain significance 0 -263989 Simple 148984154 T . Likely benign 2 2 not specified;Cardiovascular phenotype 2017-10-18 -5.7 1.0 Likely benign 0 -263994 Simple 767284056 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection 2017-03-28 -5.7 1.0 Likely benign 0 -263996 Simple 781875077 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2017-11-07 -5.7 1.0 Likely benign 0 -263998 Simple 776667707 C . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-03-31 -0.5700000000000001 1.5 Uncertain significance 0 -264002 Simple 770802769 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection 2017-06-19 -5.7 1.0 Likely benign 0 -264003 Simple 761602495 C . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-05-11 -0.5700000000000001 1.0 Uncertain significance 0 -264009 Simple 774836314 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-07-26 -5.7 1.0 Likely benign 0 -264010 Simple 886039007 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -264013 Simple 201873975 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2016-09-22 -5.7 1.5 Likely benign 0 -264021 Simple 886039012 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-09-14 -0.5700000000000001 1.0 Uncertain significance 0 -264030 Simple 2229972 A . Benign/Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-05-16 -8.7 1.0 Benign/Likely benign 0 -264031 Simple 73668312 A . Benign/Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-05-16 -8.7 1.0 Benign/Likely benign 0 -264036 Simple 757106110 A . Likely benign 2 5 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-02-17 -14.4 1.4 Benign/Likely benign 1 -264044 Simple 763187824 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-09-20 -0.5700000000000001 1.0 Uncertain significance 0 -264045 Simple 540131206 T . Uncertain significance 2 4 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2016-12-15 -1.17 1.25 Uncertain significance 0 -264046 Simple 147194783 G . Benign/Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-03-10 -8.7 1.0 Benign/Likely benign 0 -264047 Simple 1062215 T . Benign/Likely benign 2 2 Atrioventricular septal defect 4;Cardiovascular phenotype 2017-07-28 -8.7 1.0 Benign/Likely benign 0 -264050 Simple 764551640 A . Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2016-11-08 -8.7 1.3333333333333333 Benign/Likely benign 1 -264055 Simple 372166877 C . Uncertain significance 2 2 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection 2016-08-08 -0.6 1.0 Uncertain significance 0 -264059 Simple 886039026 G . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-09-08 -5.7 1.5 Likely benign 0 -264068 Simple 886039030 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-02-01 -0.5700000000000001 1.5 Uncertain significance 0 -264071 Simple 150860193 T . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2017-07-20 -5.7 1.0 Likely benign 0 -264078 Simple 774035950 A . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection 2017-07-29 -5.7 1.0 Likely benign 0 -264082 Simple 370606059 A . Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-10 -5.7 1.0 Likely benign 0 -264087 Simple 796104366 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-05-19 -0.5700000000000001 1.0 Uncertain significance 0 -264100 Simple 17025864 G . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection 2017-07-06 -6.0 0.0 Likely benign 0 -264101 Simple 763889166 T . Uncertain significance 2 2 Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection 2016-12-15 -0.5700000000000001 1.5 Uncertain significance 0 -264103 Simple 200131516 T . Likely benign 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;Thoracic aortic aneurysm and aortic dissection 2017-01-13 -5.7 1.5 Likely benign 0 -264107 Simple 146391904 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2017-08-08 -5.7 1.0 Likely benign 0 -264108 Simple 35516880 C . Benign/Likely benign 2 4 Progressive familial heart block type 1B;not specified;Progressive familial heart block;Cardiovascular phenotype 2017-07-24 -20.4 1.0 Benign/Likely benign 0 -264112 Simple 760328706 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-02-27 -0.5700000000000001 1.5 Uncertain significance 0 -264115 Simple 201404398 - . Benign 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2017-08-04 -11.4 1.0 Benign/Likely benign 1 -264119 Simple 886039051 . . Pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2017-06-15 11.4 1.0 Pathogenic/Likely pathogenic 1 -264123 Simple 369623681 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-07-15 -0.5700000000000001 1.5 Uncertain significance 0 -264127 Simple 200076623 C . Likely benign 2 3 Primary dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-05-18 -8.7 1.0 Benign/Likely benign 1 -264130 Simple 201021891 T . Uncertain significance 2 4 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-03-08 -1.17 1.0 Uncertain significance 0 -264134 Simple 374697274 T . Uncertain significance 2 2 not provided;Cardiovascular phenotype 2017-02-28 -0.5700000000000001 1.5 Uncertain significance 0 -264135 Simple 756591209 C . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-08-02 -5.7 1.5 Likely benign 0 -264137 Simple 751502842 T . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-08-02 -5.7 1.5 Likely benign 0 -264143 Simple 369883442 T . Benign 2 3 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-02-06 -16.8 1.6666666666666667 Benign/Likely benign 1 -264144 Simple 368045716 A . Benign/Likely benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-22 -11.7 1.0 Benign/Likely benign 0 -264148 Simple 149299911 G . Benign 2 2 Spinocerebellar ataxia 19;Cardiovascular phenotype 2016-07-22 -11.4 1.5 Benign/Likely benign 1 -264149 Simple 886039061 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2016-09-25 -0.5700000000000001 1.5 Uncertain significance 0 -264150 Simple 368981218 T . Uncertain significance 2 3 not specified;Cardiovascular phenotype;Walker-Warburg congenital muscular dystrophy 2017-07-31 -0.87 1.0 Uncertain significance 0 -264153 Simple 782389613 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-04-06 -5.7 1.5 Likely benign 0 -264154 Simple 577371071 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-08-01 -0.6 0.0 Uncertain significance 0 -264163 Simple 115178276 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-04-10 -0.5700000000000001 1.0 Uncertain significance 0 -264166 Simple 886039068 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection 2017-06-29 -0.5700000000000001 1.0 Uncertain significance 0 -264171 Simple 780805481 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-05-16 -5.7 1.0 Likely benign 0 -264174 Simple 138265409 T . Uncertain significance 2 4 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-09 -1.17 0.75 Uncertain significance 0 -264176 Simple 28763922 A . Benign/Likely benign 2 4 Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-03 -20.4 1.0 Benign/Likely benign 0 -264178 Simple 61751554 A . Benign/Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-06-15 -8.7 1.0 Benign/Likely benign 0 -264180 Simple 200207651 T . Benign/Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-10-13 -9.0 0.0 Benign/Likely benign 0 -264183 Simple 375535030 C . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-06-13 -0.5700000000000001 1.0 Uncertain significance 0 -264184 Simple 367994477 T . Benign/Likely benign 2 2 Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-03-02 -8.7 1.5 Benign/Likely benign 0 -264194 Simple 142313595 A . Likely benign 2 2 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection 2017-06-10 -5.7 1.0 Likely benign 0 -264196 Simple 767026996 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-09-14 -0.54 2.0 Uncertain significance 0 -264204 Simple 770483769 C . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-05-15 -0.5700000000000001 1.0 Uncertain significance 0 -264207 Simple 777768807 A . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;Cardiovascular phenotype 2017-03-23 -0.5700000000000001 1.0 Uncertain significance 0 -264208 Simple 886039082 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-01-21 -0.5700000000000001 1.5 Uncertain significance 0 -264212 Simple 142788545 A . Benign 2 3 Progressive familial heart block type 1B;not specified;Cardiovascular phenotype 2017-04-10 -17.4 1.0 Benign/Likely benign 1 -264213 Simple 186619828 T . Likely benign 2 3 not specified;Cardiovascular phenotype 2016-09-29 -8.4 1.6666666666666667 Benign/Likely benign 1 -264214 Simple 373629059 C . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 14;not specified;Cardiovascular phenotype 2017-09-19 -0.87 0.6666666666666666 Uncertain significance 0 -264221 Simple 886039085 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2015-08-27 -0.54 2.0 Uncertain significance 0 -264230 Simple 886039089 C . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -264235 Simple 886039092 T . Pathogenic/Likely pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2017-04-20 9.0 0.0 Pathogenic/Likely pathogenic 0 -264239 Simple 62313245 G . Uncertain significance 2 4 Long QT syndrome;not specified;Cardiovascular phenotype 2017-06-06 -1.17 0.75 Uncertain significance 0 -264251 Simple 145272651 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2016-11-03 -0.5700000000000001 1.5 Uncertain significance 0 -264257 Simple 538160664 C . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2016-06-24 -8.7 1.5 Benign/Likely benign 0 -264265 Simple 747248981 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2015-11-17 -5.4 2.0 Likely benign 0 -264272 Simple 111984349 T . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-05-07 8.7 1.0 Pathogenic/Likely pathogenic 0 -264276 Simple 199473284 A . Pathogenic 2 2 not provided;Cardiovascular phenotype 2017-08-23 11.4 1.0 Pathogenic/Likely pathogenic 1 -264277 Simple 761812034 A . Uncertain significance 2 2 Dilated cardiomyopathy 1KK;Cardiovascular phenotype 2016-08-15 -0.5700000000000001 1.5 Uncertain significance 0 -264279 Simple 186497293 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-08-25 -5.7 1.5 Likely benign 0 -264281 Simple 762603334 T . Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-04-19 -5.7 1.0 Likely benign 0 -264282 Simple 56378658 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2017-07-01 -0.6 0.5 Uncertain significance 0 -264285 Simple 148484744 A . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2015-10-28 -8.100000000000001 2.0 Likely benign 1 -264291 Simple 41366751 T . Benign 2 3 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -17.4 1.0 Benign/Likely benign 1 -264293 Simple 201837864 G . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2016-11-15 -8.7 1.3333333333333333 Benign/Likely benign 1 -264295 Simple 754976419 A . Benign/Likely benign 2 2 not specified;Cardiovascular phenotype 2015-11-09 -8.100000000000001 2.0 Likely benign 1 -264303 Simple 147706514 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-06-02 -0.6 0.5 Uncertain significance 0 -264309 Simple 782750091 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2015-11-25 -5.4 2.0 Likely benign 0 -264320 Simple 539670390 G . Likely benign 2 2 Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection 2017-01-19 -5.7 1.5 Likely benign 0 -264329 Simple 886039126 T . Likely benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-01-19 -8.7 1.3333333333333333 Benign/Likely benign 1 -264332 Simple 779591168 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;Cardiovascular phenotype 2016-12-05 -5.7 1.5 Likely benign 0 -264337 Simple 773942709 A . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-11-26 -0.5700000000000001 1.5 Uncertain significance 0 -264342 Simple 147840022 T . Benign 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2016-12-08 -12.0 1.0 Benign/Likely benign 1 -264344 Simple 886039130 A . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-01-13 -5.7 1.5 Likely benign 0 -264347 Simple 368025526 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-07-10 -5.7 1.5 Likely benign 0 -264348 Simple 771180054 T . Uncertain significance 2 5 Becker muscular dystrophy;Long QT syndrome 12;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;Cardiovascular phenotype 2017-08-01 -1.47 0.4 Uncertain significance 0 -264351 Simple 201332554 A . Uncertain significance 2 3 Marfan syndrome;Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-23 -0.87 1.0 Uncertain significance 0 -264353 Simple 191786597 G . Likely benign 2 2 not specified;Cardiovascular phenotype 2015-10-13 -5.4 2.0 Likely benign 0 -264356 Simple 370362589 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-02-21 -0.87 1.3333333333333333 Uncertain significance 0 -264369 Simple 775922060 T . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-07-14 -5.7 1.5 Likely benign 0 -264371 Simple 199512133 A . Benign/Likely benign 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2016-12-21 -11.7 1.3333333333333333 Benign/Likely benign 0 -264372 Simple 45442693 G . Benign/Likely benign 2 3 Long QT syndrome;Cardiovascular phenotype 2017-07-31 -14.4 1.0 Benign/Likely benign 0 -264375 Simple 377656260 T . Benign 2 3 Brugada syndrome 8;not specified;Cardiovascular phenotype 2017-03-20 -16.8 1.3333333333333333 Benign/Likely benign 1 -264377 Simple 886039136 GG . Pathogenic 2 2 Fabry disease;Cardiovascular phenotype 2016-02-03 10.8 2.0 Pathogenic/Likely pathogenic 1 -264387 Simple 766360871 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;Cardiovascular phenotype 2017-03-22 -0.5700000000000001 1.0 Uncertain significance 0 -264394 Simple 371129517 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-04-29 -0.6 0.5 Uncertain significance 0 -264395 Simple 746436835 A . Uncertain significance 2 2 Long QT syndrome;Cardiovascular phenotype 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -264398 Simple 766737406 A . Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-08-07 -5.7 1.0 Likely benign 0 -264404 Simple 886039145 CC . Pathogenic/Likely pathogenic 2 2 not provided;Cardiovascular phenotype;TTN-Related disorder 2017-03-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -264405 Simple 202225486 A . Likely benign 2 2 Primary dilated cardiomyopathy;Cardiovascular phenotype 2017-04-20 -5.7 1.0 Likely benign 0 -264406 Simple 369623575 T . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-04-11 -5.7 1.5 Likely benign 0 -264409 Simple 114556043 G . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection 2017-07-19 -8.7 1.0 Benign/Likely benign 0 -264410 Simple 144667334 T . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection 2016-11-08 -5.7 1.5 Likely benign 0 -264414 Simple 760286479 A . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2015-09-15 -8.100000000000001 2.0 Likely benign 1 -264419 Simple 199652954 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2016-12-16 -0.5700000000000001 1.5 Uncertain significance 0 -264431 Simple 140019543 T . Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2016-08-30 -5.7 1.5 Likely benign 0 -264440 Simple 200814534 T . Uncertain significance 2 3 Brugada syndrome 8;not specified;Cardiovascular phenotype 2017-08-23 -0.87 0.6666666666666666 Uncertain significance 0 -264443 Simple 369845924 A . Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-01-30 -8.7 1.3333333333333333 Benign/Likely benign 1 -264445 Simple 372404266 T . Uncertain significance 2 3 not specified;Cardiovascular phenotype 2017-02-02 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -264452 Simple 771260546 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-01-24 -0.5700000000000001 1.5 Uncertain significance 0 -264455 Simple 72648216 A . Benign/Likely benign 2 4 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype 2016-12-05 -20.1 1.5 Benign/Likely benign 0 -264456 Simple 371422299 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-08-25 -0.5700000000000001 1.5 Uncertain significance 0 -264464 Simple 372600090 G . Uncertain significance 2 2 Duchenne muscular dystrophy;Cardiovascular phenotype 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -264468 Simple 756560698 T . Uncertain significance 2 3 Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-31 -0.87 1.0 Uncertain significance 0 -264469 Simple 371068504 T . Uncertain significance 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-28 -0.5700000000000001 1.0 Uncertain significance 0 -264475 Simple 145649088 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-03-01 -0.6 1.0 Uncertain significance 0 -264480 Simple 886039171 C . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-01-19 -0.5700000000000001 1.5 Uncertain significance 0 -264482 Simple 749707062 T . Uncertain significance 2 4 Andersen Tawil syndrome;short QT syndrome;Familial atrial fibrillation;Cardiovascular phenotype 2016-06-14 -1.17 1.25 Uncertain significance 0 -264484 Simple 781838464 T . Uncertain significance 2 2 Dilated cardiomyopathy 1JJ;Cardiovascular phenotype 2017-05-19 -0.5700000000000001 1.0 Uncertain significance 0 -264486 Simple 200773170 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-10-09 -0.5700000000000001 1.5 Uncertain significance 0 -264489 Simple 76079250 G . Benign/Likely benign 2 3 Primary dilated cardiomyopathy;not specified;Cardiovascular phenotype 2017-06-27 -14.4 0.6666666666666666 Benign/Likely benign 0 -264494 Simple 141966309 T . Benign/Likely benign 2 3 Brugada syndrome 8;not specified;Cardiovascular phenotype 2017-10-30 -11.7 0.6666666666666666 Benign/Likely benign 0 -264497 Simple 149517238 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-04-17 -0.5700000000000001 1.0 Uncertain significance 0 -264501 Simple 727504374 C . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -264502 Simple 149574060 T . Likely benign 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-02 -8.7 1.0 Benign/Likely benign 1 -264504 Simple 182998780 T . Benign/Likely benign 2 3 Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Cardiovascular phenotype 2017-10-23 -11.7 0.6666666666666666 Benign/Likely benign 0 -264509 Simple 137886839 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-05-16 -0.5700000000000001 1.0 Uncertain significance 0 -264510 Simple 140664656 G . Likely benign 2 2 not specified;Cardiovascular phenotype 2015-11-17 -5.4 2.0 Likely benign 0 -264511 Simple 144821187 T . Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2016-07-11 -5.7 1.5 Likely benign 0 -264516 Simple 886039181 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2016-12-20 -0.6 1.0 Uncertain significance 0 -264517 Simple 751746401 A . Likely pathogenic 2 2 Dilated cardiomyopathy 1G;Cardiovascular phenotype 2016-12-20 6.0 1.0 Likely pathogenic 0 -264524 Simple 142320290 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2016-12-15 -0.5700000000000001 1.5 Uncertain significance 0 -264525 Simple 367638447 T . Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-01-30 -5.7 1.5 Likely benign 0 -264526 Simple 886039184 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-10-02 -0.5700000000000001 1.0 Uncertain significance 0 -264529 Simple 144775475 A . Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2016-10-23 -5.7 1.5 Likely benign 0 -264532 Simple 138665246 A . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-01-04 -5.7 1.5 Likely benign 0 -264534 Simple 200615848 C . Conflicting interpretations of pathogenicity 1 3 Aortic aneurysm, familial thoracic 2;Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 3 -264535 Simple 36049318 G . Benign/Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-07-28 -11.7 0.6666666666666666 Benign/Likely benign 0 -264537 Simple 35962301 T . Benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-06-21 -11.4 1.0 Benign/Likely benign 1 -264538 Simple 142375989 A . Benign/Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-06-21 -9.0 0.5 Benign/Likely benign 0 -264539 Simple 886039185 T . Likely pathogenic 2 2 Hypertrophic cardiomyopathy;Cardiovascular phenotype 2016-09-05 5.7 1.5 Likely pathogenic 0 -264540 Simple 373068883 A . Likely benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-06-04 -8.7 0.6666666666666666 Benign/Likely benign 1 -264541 Simple 201077220 T . Uncertain significance 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-08-28 -0.87 0.6666666666666666 Uncertain significance 0 -264544 Simple 760754491 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection 2016-11-30 -5.7 1.5 Likely benign 0 -264547 Simple 146757272 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection 2017-03-09 -0.5700000000000001 1.0 Uncertain significance 0 -264550 Simple 201213622 A . Likely benign 2 5 Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiovascular phenotype;Cardiomyopathy, ARVC 2016-06-14 -14.7 1.2 Benign/Likely benign 1 -264551 Simple 782465430 G . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2016-12-21 -0.5700000000000001 1.5 Uncertain significance 0 -264556 Simple 202108848 A . Uncertain significance 2 3 Brugada syndrome;not specified;Cardiovascular phenotype 2017-08-14 -0.87 0.6666666666666666 Uncertain significance 0 -264558 Simple 569803719 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-04-18 -5.7 1.0 Likely benign 0 -264564 Simple 376951155 A . Likely benign 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2016-06-01 -5.7 1.5 Likely benign 0 -264565 Simple 113491038 C . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2017-03-08 -8.7 1.0 Benign/Likely benign 0 -264571 Simple 113454484 C . Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-04-27 -5.7 1.0 Likely benign 0 -264572 Simple 149310669 T . Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-04-27 -5.7 1.0 Likely benign 0 -264575 Simple 140992864 A . Likely benign 2 2 Long QT syndrome;Cardiovascular phenotype 2017-04-27 -5.7 1.0 Likely benign 0 -264576 Simple 199935312 G . Likely benign 2 2 not specified;Cardiovascular phenotype 2016-10-04 -5.7 1.5 Likely benign 0 -264584 Simple 143535006 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 5;Cardiovascular phenotype 2017-07-28 -0.6 0.5 Uncertain significance 0 -264585 Simple 368971586 T . Likely benign 2 3 not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia 2017-07-21 -8.4 1.3333333333333333 Benign/Likely benign 1 -264591 Simple 141531245 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-02-24 -0.6 1.0 Uncertain significance 0 -264594 Simple 202096917 T . Uncertain significance 2 2 Adams-Oliver syndrome 5;Cardiovascular phenotype 2016-08-31 -0.5700000000000001 1.5 Uncertain significance 0 -264603 Simple 756282138 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Cardiovascular phenotype 2017-06-05 -5.7 1.0 Likely benign 0 -264604 Simple 758224257 T . Likely benign 2 2 Hypertrophic cardiomyopathy;Cardiovascular phenotype 2017-06-28 -5.7 1.0 Likely benign 0 -264606 Simple 142653119 C . Likely benign 2 2 not specified;Cardiovascular phenotype 2017-08-30 -5.7 1.0 Likely benign 0 -264611 Simple 139620148 T . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-12-13 -0.6 0.5 Uncertain significance 0 -264614 Simple 61733294 A . Benign 2 3 not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype 2017-05-22 -17.4 1.0 Benign/Likely benign 1 -264616 Simple 201299226 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -264620 Simple 886039209 A . Likely benign 2 2 not specified;Cardiovascular phenotype 2015-12-30 -5.4 2.0 Likely benign 0 -264631 Simple 886039213 A . Uncertain significance 2 2 not specified;Cardiovascular phenotype 2017-03-17 -0.5700000000000001 1.0 Uncertain significance 0 -264648 Simple 886037956 G . Pathogenic 2 2 Epidermolysis bullosa simplex, Koebner type;not provided;Epidermolysis bullosa simplex, generalized, with scarring and hair loss 2017-03-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -264773 Simple 56209245 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264774 Simple 527906133 TTTCTTTC . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264775 Simple 376686434 ACACACACACAC . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264776 Simple 574913562 TGT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264777 Simple 554373226 TT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264778 Simple 10445303 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264779 Simple 545752115 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264780 Simple 374842106 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264781 Simple 532039683 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264782 Simple 149328571 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264783 Simple 538378944 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264784 Simple 191530878 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264785 Simple 55737636 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264786 Simple 556333401 A . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264787 Simple 8176146 A . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264788 Simple 533045755 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264789 Simple 184237074 T . Benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-28 -9.6 1.0 Benign/Likely benign 1 -264790 Simple 545107728 A . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264791 Simple 34608699 AA . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264792 Simple 8176135 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264793 Simple 8176204 A . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264794 Simple 545723152 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264795 Simple 8176218 AATGTTCACTGTAACAATGCTTGT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264796 Simple 200639029 ATAT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264797 Simple 35150209 TT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264798 Simple 55820479 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264799 Simple 73311445 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264800 Simple 541592598 AA . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264801 Simple 571319167 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264802 Simple 68171917 TT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264803 Simple 186421008 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264804 Simple 187354131 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264805 Simple 537597375 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264806 Simple 138544133 GTGCGCGTGCGC . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264807 Simple 8176169 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264808 Simple 8176097 TT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264809 Simple 536390258 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264810 Simple 189676688 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264811 Simple 575589035 A . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264812 Simple 189108346 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264813 Simple 146934045 . . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264814 Simple 182653629 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264815 Simple 139038134 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264816 Simple 186594388 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264817 Simple 536209322 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264818 Simple 530463308 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264819 Simple 375673256 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264820 Simple 139210193 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264821 Simple 566416929 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264822 Simple 577010874 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264823 Simple 377611452 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264824 Simple 371133200 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264825 Simple 139811854 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264826 Simple 8176167 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264827 Simple 35184764 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264828 Simple 35149296 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264829 Simple 542961527 AAAAAAAAAAAAAAAAAAAAAA . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264830 Simple 8176284 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264831 Simple 186268206 A . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264832 Simple 538015792 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264833 Simple 183831660 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264834 Simple 370148636 AA . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264835 Simple 541281969 A . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264836 Simple 537806106 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264837 Simple 8176238 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264838 Simple 8176097 TTTT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264839 Simple 190387252 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264840 Simple 372544924 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264841 Simple 562162183 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264842 Simple 542231412 TT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264843 Simple 11347376 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264844 Simple 8176203 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264845 Simple 36085989 TT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264846 Simple 67177158 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264847 Simple 144110800 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264848 Simple 533819030 TT . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264849 Simple 543852008 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264850 Simple 572878542 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264851 Simple 371465813 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264852 Simple 34226398 - . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264853 Simple 562679568 A . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264854 Simple 559234080 T . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264855 Simple 79996471 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264856 Simple 397857709 - . Benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-09-28 -9.9 1.0 Benign/Likely benign 1 -264857 Simple 759021873 ACAACA . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264858 Simple 145654477 C . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264859 Simple 8176288 G . Benign 3 1 Breast-ovarian cancer, familial 1 2016-09-28 . 1.0 . 0 -264860 Simple 11571668 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264861 Simple 886039283 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264862 Simple 11571572 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264863 Simple 886039284 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264864 Simple 397843915 GTGT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264865 Simple 398022216 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264866 Simple 563809655 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264867 Simple 886039285 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264868 Simple 190340680 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264869 Simple 192347116 G . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2016-09-28 -12.6 1.0 Benign/Likely benign 1 -264870 Simple 575762451 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264871 Simple 542917942 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264872 Simple 372507971 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264873 Simple 811637 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264874 Simple 11571614 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264875 Simple 532967407 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264876 Simple 12868315 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264877 Simple 397843916 TATA . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264878 Simple 886039286 - . Benign 3 4 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified 2016-09-28 -15.6 1.0 Benign/Likely benign 1 -264879 Simple 185686056 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264880 Simple 11571697 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264881 Simple 144839924 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264882 Simple 11571713 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264883 Simple 140346021 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264884 Simple 191749285 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264885 Simple 188221073 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264886 Simple 11571826 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264887 Simple 886039287 - . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2016-09-28 -18.6 1.0 Benign/Likely benign 1 -264888 Simple 11571777 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264889 Simple 11571701 TATA . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264890 Simple 11571784 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264891 Simple 200408497 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264892 Simple 555027263 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264893 Simple 186619625 G . Benign 3 3 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome 2016-09-28 -12.6 1.0 Benign/Likely benign 1 -264894 Simple 11571714 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264895 Simple 55777417 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264896 Simple 542635026 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264897 Simple 375176572 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264898 Simple 569238800 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264899 Simple 375090804 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264900 Simple 532022945 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264901 Simple 398022219 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264902 Simple 534750592 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264903 Simple 571896349 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264904 Simple 372403616 TA . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264905 Simple 11571595 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264906 Simple 169546 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264907 Simple 11571802 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264908 Simple 143696527 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264909 Simple 570977721 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264910 Simple 397751953 CC . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264911 Simple 367590748 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264912 Simple 11571779 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264913 Simple 575726783 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264914 Simple 143233595 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264915 Simple 114789602 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264916 Simple 886039288 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264917 Simple 531627369 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264918 Simple 567979190 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264919 Simple 538947930 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264920 Simple 886039289 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264921 Simple 540563547 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264922 Simple 61946965 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264923 Simple 11571770 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264924 Simple 190338696 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264925 Simple 11571816 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264926 Simple 34225677 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264927 Simple 550559376 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264928 Simple 10577567 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264929 Simple 11571680 TTATAAAATTTATAAAAT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264930 Simple 547552048 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264931 Simple 186096068 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264932 Simple 192381346 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264933 Simple 567772904 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264934 Simple 11571731 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264935 Simple 11571736 AGGTAGGT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264936 Simple 56213495 . . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264937 Simple 183447021 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264938 Simple 566431547 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264939 Simple 398098747 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264940 Simple 11571603 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264941 Simple 149811837 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264942 Simple 11571612 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264943 Simple 114056196 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264944 Simple 142947698 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264945 Simple 182035795 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264946 Simple 886039290 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264947 Simple 886039291 AA . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264948 Simple 144864139 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264949 Simple 886039292 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264950 Simple 559160843 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264951 Simple 11571616 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264952 Simple 566287780 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264953 Simple 144947432 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264954 Simple 556019160 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264955 Simple 567110692 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264956 Simple 11571761 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264957 Simple 886039293 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264958 Simple 11571667 C . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264959 Simple 11571635 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264960 Simple 537051914 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264961 Simple 145137109 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264962 Simple 11571634 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264963 Simple 886039294 TT . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264964 Simple 533452666 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264965 Simple 398022220 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264966 Simple 186147531 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264967 Simple 536781751 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264968 Simple 206096 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264969 Simple 551798807 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264970 Simple 552441343 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264971 Simple 886039295 AA . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264972 Simple 74047010 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264973 Simple 796260441 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264974 Simple 34816981 TTACTTAC . Benign 3 2 Breast-ovarian cancer, familial 2 2016-09-28 -11.879999999999999 2.0 Benign/Likely benign 1 -264975 Simple 12869093 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264976 Simple 55848377 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264977 Simple 398022214 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264978 Simple 398022213 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264979 Simple 189608242 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264980 Simple 11571617 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264981 Simple 11571758 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264982 Simple 11571692 T . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264983 Simple 11571797 A . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264984 Simple 796964470 - . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -264985 Simple 11571607 G . Benign 3 1 Breast-ovarian cancer, familial 2 2016-09-28 . 1.0 . 0 -265020 Simple 63750473 G . Pathogenic/Likely pathogenic 2 1 Pseudoxanthoma elasticum;not provided 2015-03-17 . 2.0 . 0 -265021 Simple 63750622 T . Pathogenic/Likely pathogenic 2 1 Pseudoxanthoma elasticum;not provided 2016-03-04 . 2.0 . 0 -265031 Simple 201948406 T . Pathogenic 2 2 Pyridoxine-dependent epilepsy;not provided 2017-09-25 12.0 0.0 Pathogenic/Likely pathogenic 1 -265036 Simple 56393253 A . Uncertain significance 2 3 Congenital disorder of glycosylation type 1I;Congenital disorder of glycosylation;not specified;Myasthenic syndrome, congenital, 14 2017-03-24 -0.87 1.0 Uncertain significance 0 -265049 Simple 766381694 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-03-20 -0.6 0.5 Uncertain significance 0 -265050 Simple 886039313 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-07 -0.6 1.0 Uncertain significance 0 -265054 Simple 886039316 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-13 -0.5700000000000001 1.5 Uncertain significance 0 -265056 Simple 886039317 - . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-30 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -265057 Simple 886039318 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-02-09 18.0 1.0 Pathogenic 0 -265059 Simple 886039320 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -265064 Simple 199745070 T . Uncertain significance 2 2 not specified 2016-09-09 -0.6 1.0 Uncertain significance 0 -265069 Simple 770718464 A . Uncertain significance 2 2 Idiopathic generalized epilepsy;not specified;Hyperaldosteronism, familial, type IV 2017-03-01 -0.6 1.0 Uncertain significance 0 -265082 Simple 143457874 A . Pathogenic 2 2 Recessive dystrophic epidermolysis bullosa;not provided 2017-07-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -265097 Simple 760428437 T . Pathogenic/Likely pathogenic 2 2 Smith-Lemli-Opitz syndrome;not provided 2017-04-22 9.0 0.5 Pathogenic/Likely pathogenic 0 -265102 Simple 886039343 T . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided 2017-05-01 9.0 0.5 Pathogenic/Likely pathogenic 0 -265103 Simple 375891215 C . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-10-27 -0.6 0.5 Uncertain significance 0 -265107 Simple 886039344 A . Pathogenic/Likely pathogenic 2 2 Hypohidrotic X-linked ectodermal dysplasia;not provided 2017-06-05 9.0 0.5 Pathogenic/Likely pathogenic 0 -265108 Simple 746315830 T . Pathogenic 2 5 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Myopathy, distal, with anterior tibial onset;not provided 2015-11-04 27.0 2.0 Pathogenic 0 -265118 Simple 140642538 A . Uncertain significance 2 2 not specified 2016-09-13 -0.6 1.0 Uncertain significance 0 -265122 Simple 550455609 G . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-10-27 -0.6 0.0 Uncertain significance 0 -265134 Simple 763718818 T . Pathogenic 2 2 Multiple exostoses type 2;not provided 2017-06-02 12.0 0.5 Pathogenic/Likely pathogenic 1 -265137 Simple 370510954 A . Likely pathogenic 2 4 Fanconi anemia;Fanconi anemia, complementation group C;not provided;Hereditary cancer-predisposing syndrome 2017-09-28 11.7 0.75 Pathogenic/Likely pathogenic 1 -265143 Simple 765882664 - . Pathogenic 2 2 not provided;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 12.0 0.0 Pathogenic/Likely pathogenic 1 -265148 Simple 886039365 C . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-04-19 5.7 1.5 Likely pathogenic 0 -265149 Simple 886039366 C . Uncertain significance 2 2 Fumarase deficiency;not specified 2017-09-28 -0.6 0.0 Uncertain significance 0 -265151 Simple 886039368 T . Pathogenic/Likely pathogenic 2 3 Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-01-17 12.0 1.0 Pathogenic/Likely pathogenic 0 -265152 Simple 755092516 T . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-07-10 -0.6 0.0 Uncertain significance 0 -265160 Simple 1800312 C . Pathogenic 2 6 Glycogen storage disease, type II;not specified;not provided 2017-07-31 35.4 0.8333333333333334 Pathogenic 0 -265162 Simple 886039373 A . Pathogenic/Likely pathogenic 2 3 Epilepsy, juvenile myoclonic 5;not provided;Epileptic encephalopathy, early infantile, 19 2017-01-17 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -265163 Simple 139793542 T . Uncertain significance 2 2 Idiopathic generalized epilepsy;Epilepsy, juvenile myoclonic 5;Epilepsy, childhood absence 4;not specified 2016-08-30 -0.6 1.0 Uncertain significance 0 -265175 Simple 769268803 T . Pathogenic 2 2 not provided 2017-02-07 11.4 1.5 Pathogenic/Likely pathogenic 1 -265182 Simple 772839719 T . Uncertain significance 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -1.17 1.25 Uncertain significance 0 -265187 Simple 114515505 T . Uncertain significance 2 2 not specified 2016-12-19 -0.6 1.0 Uncertain significance 0 -265190 Simple 372353067 C . Uncertain significance 2 2 not specified 2017-05-01 -0.6 0.5 Uncertain significance 0 -265192 Simple 886039385 T . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided 2016-08-04 9.0 1.0 Pathogenic/Likely pathogenic 0 -265193 Simple 886039386 T . Pathogenic 2 2 not provided 2017-06-05 11.4 1.0 Pathogenic/Likely pathogenic 1 -265194 Simple 886039387 C . Pathogenic 2 2 X-linked severe combined immunodeficiency;not provided 2016-09-20 12.0 1.0 Pathogenic/Likely pathogenic 1 -265203 Simple 886039393 - . Pathogenic 2 2 Alagille syndrome 1;not provided 2017-03-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -265216 Simple 886039402 A . Pathogenic 2 2 Cerebral cavernous malformation;not provided 2017-05-23 12.0 0.0 Pathogenic/Likely pathogenic 1 -265221 Simple 886039405 T . Pathogenic 2 2 not provided;Spastic paraplegia 2016-12-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -265235 Simple 886039414 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-05-06 11.4 1.5 Pathogenic/Likely pathogenic 1 -265236 Simple 886039415 G . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-03-08 8.4 1.5 Pathogenic/Likely pathogenic 0 -265241 Simple 886039420 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-12-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -265252 Simple 2069544 C . Pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-05-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -265255 Simple 141498002 A . Pathogenic 2 2 Carbohydrate-deficient glycoprotein syndrome type I;not provided 2017-06-12 11.4 1.0 Pathogenic/Likely pathogenic 1 -265258 Simple 143947056 A . Pathogenic/Likely pathogenic 2 2 Mucopolysaccharidosis, MPS-III-A;not provided 2016-11-12 9.0 1.0 Pathogenic/Likely pathogenic 0 -265259 Simple 201278558 A . Pathogenic 2 2 not provided;Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 2017-06-28 12.0 0.0 Pathogenic/Likely pathogenic 1 -265269 Simple 780990272 T . Pathogenic/Likely pathogenic 2 2 not provided 2017-03-06 9.0 0.5 Pathogenic/Likely pathogenic 0 -265271 Simple 886039439 T . Pathogenic/Likely pathogenic 2 3 Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-06-08 14.7 1.0 Pathogenic/Likely pathogenic 0 -265275 Simple 531575965 T . Uncertain significance 2 2 not specified 2016-11-02 -0.6 1.0 Uncertain significance 0 -265288 Simple 886039450 - . Pathogenic 2 3 Usher syndrome, type 2A;Retinitis pigmentosa 39;not provided 2016-08-15 18.0 1.0 Pathogenic 0 -265315 Simple 886039471 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -265329 Simple 886039480 A . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;Fanconi anemia;not provided;Hereditary cancer-predisposing syndrome;Hereditary cancer 2017-05-06 18.0 0.5 Pathogenic 1 -265339 Simple 886039486 - . Pathogenic 2 2 Multiple congenital exostosis;not provided 2017-03-16 11.4 1.0 Pathogenic/Likely pathogenic 1 -265342 Simple 886039488 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-12 9.0 1.0 Pathogenic/Likely pathogenic 0 -265350 Simple 886039494 T . Pathogenic/Likely pathogenic 2 2 not provided;Early infantile epileptic encephalopathy;Neurodevelopmental disorder with involuntary movements 2017-09-28 9.0 0.5 Pathogenic/Likely pathogenic 0 -265355 Simple 201115064 T . Uncertain significance 2 5 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-10 -1.47 0.4 Uncertain significance 0 -265359 Simple 192864327 T . Pathogenic/Likely pathogenic 2 2 not provided 2017-10-12 9.0 0.0 Pathogenic/Likely pathogenic 0 -265368 Simple 886039503 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-07-31 15.0 0.6666666666666666 Pathogenic 1 -265369 Simple 886039504 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -265370 Simple 886039505 T . Pathogenic 2 3 Osler hemorrhagic telangiectasia syndrome;not provided 2017-06-16 18.0 0.6666666666666666 Pathogenic 0 -265371 Simple 886039506 A . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not provided 2017-07-11 12.0 0.0 Pathogenic/Likely pathogenic 1 -265383 Simple 138941496 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-08-16 9.0 0.5 Pathogenic/Likely pathogenic 0 -265401 Simple 140583 A . Pathogenic 2 2 not specified;not provided 2016-10-25 12.0 1.0 Pathogenic/Likely pathogenic 1 -265426 Simple 747349942 T . Pathogenic 2 2 Laminin alpha 2-related dystrophy;not provided 2017-07-31 12.0 0.5 Pathogenic/Likely pathogenic 1 -265427 Simple 886039541 - . Pathogenic 2 2 Merosin deficient congenital muscular dystrophy;not provided 2016-09-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -265431 Simple 776587763 A . Pathogenic 2 3 Pfeiffer syndrome;not provided;FGFR2 related craniosynostosis 2017-06-03 17.4 1.0 Pathogenic 0 -265433 Simple 67507747 T . Pathogenic 2 4 Osteogenesis imperfecta, recessive perinatal lethal;Osteogenesis imperfecta type I;not provided 2017-04-20 22.8 1.25 Pathogenic 0 -265437 Simple 869038795 A . Pathogenic/Likely pathogenic 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2017-01-24 22.200000000000003 1.8571428571428572 Pathogenic 1 -265439 Simple 886039545 G . Pathogenic/Likely pathogenic 2 2 Diamond-Blackfan anemia;not provided 2017-06-20 9.0 0.5 Pathogenic/Likely pathogenic 0 -265451 Simple 886039554 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-28 8.1 2.5 Likely pathogenic 1 -265456 Simple 886039556 - . Pathogenic 2 2 Polyglandular autoimmune syndrome, type 1;not provided 2017-10-31 12.0 0.5 Pathogenic/Likely pathogenic 1 -265487 Simple 758180890 T . Pathogenic 2 3 Miyoshi muscular dystrophy 1;not provided;DYSF- Related Disorder 2016-03-29 16.8 1.6666666666666667 Pathogenic 0 -265508 Simple . T . Pathogenic 2 2 not provided;Neurodegeneration with brain iron accumulation 5 2017-10-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -265513 Simple 886039592 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-24 8.7 1.0 Pathogenic/Likely pathogenic 0 -265535 Simple 886039607 G . Pathogenic/Likely pathogenic 2 2 LEOPARD syndrome 2;Noonan syndrome 5;not provided 2017-08-01 9.0 0.0 Pathogenic/Likely pathogenic 0 -265545 Simple 786203650 G . Likely pathogenic 2 2 Familial cancer of breast;not provided 2017-04-17 5.7 1.0 Likely pathogenic 0 -265547 Simple 886039615 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-14 8.7 1.5 Pathogenic/Likely pathogenic 0 -265549 Simple 886039617 CG . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-11-03 -0.6 0.0 Uncertain significance 0 -265552 Simple 886039619 T . Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-21 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -265556 Simple 886039623 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-05-13 8.4 1.5 Pathogenic/Likely pathogenic 0 -265559 Simple 528165789 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-08 9.0 0.5 Pathogenic/Likely pathogenic 0 -265565 Simple 886039629 T . Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-05-24 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -265575 Simple 886039637 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-02 9.0 1.0 Pathogenic/Likely pathogenic 0 -265586 Simple 886039646 - . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-11 12.0 0.0 Pathogenic/Likely pathogenic 0 -265606 Simple 886039663 - . Pathogenic 2 2 Duchenne muscular dystrophy;not provided 2016-06-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -265610 Simple 761820222 A . Pathogenic 2 2 not provided;Mental retardation, autosomal dominant 18 2017-09-29 12.0 0.5 Pathogenic/Likely pathogenic 1 -265611 Simple 886039666 T . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-03-23 15.0 0.6666666666666666 Pathogenic 1 -265622 Simple 886039675 - . Likely pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2017-01-05 6.0 1.0 Likely pathogenic 0 -265632 Simple 745533713 - . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-04-24 15.0 0.6666666666666666 Pathogenic 1 -265633 Simple 886039683 - . Likely pathogenic 2 2 Familial cancer of breast;not provided 2017-04-19 6.0 0.5 Likely pathogenic 0 -265646 Simple 776073429 A . Pathogenic/Likely pathogenic 2 3 Congenital myotonia, autosomal recessive form;Myotonia congenita;not provided 2017-09-07 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -265661 Simple 886039709 C . Likely pathogenic 2 2 not provided 2017-06-13 6.0 0.5 Likely pathogenic 0 -265674 Simple 886039721 A . Likely pathogenic 2 2 Familial cancer of breast;not provided 2017-01-16 6.0 1.0 Likely pathogenic 0 -265680 Simple 886039726 T . Pathogenic/Likely pathogenic 2 2 not specified;not provided 2017-05-01 9.0 0.5 Pathogenic/Likely pathogenic 0 -265686 Simple 886039731 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided 2017-05-19 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -265689 Simple 886039734 - . Pathogenic/Likely pathogenic 2 3 KBG syndrome;not provided 2017-01-27 15.0 1.0 Pathogenic 1 -265694 Simple 886039739 T . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-29 18.0 0.5 Pathogenic 1 -265789 Simple 886040857 - . Pathogenic/Likely pathogenic 2 2 MEHMO syndrome;not provided 2018-01-18 9.0 1.0 Pathogenic/Likely pathogenic 0 -265876 Simple 72653061 C . Conflicting interpretations of pathogenicity 1 3 Familial hypercholesterolemia;not specified 2017-08-15 -6.57 0.6666666666666666 Likely benign 2 -265881 Simple 185550846 G . Uncertain significance 2 3 Familial hypobetalipoproteinemia;Familial hypercholesterolemia 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -265887 Simple 200583769 A . Uncertain significance 2 3 Familial hypercholesterolemia;not specified 2017-08-06 -0.87 1.0 Uncertain significance 0 -265889 Simple 531273434 G . Uncertain significance 2 2 Familial hypercholesterolemia;not specified 2016-06-16 -0.5700000000000001 1.5 Uncertain significance 0 -265892 Simple 745721296 C . Uncertain significance 2 2 Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -265899 Simple 886039830 . . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -265906 Simple . . . Pathogenic 2 3 Familial hypercholesterolemia 2016-03-01 16.200000000000003 2.0 Pathogenic 0 -265907 Simple 2738460 T . Benign 2 2 Familial hypercholesterolemia 2016-03-01 -10.8 2.0 Benign/Likely benign 1 -265910 Simple 14158 A . Benign/Likely benign 2 2 Familial hypercholesterolemia 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -266033 Simple 886039902 - . Pathogenic 2 2 KBG syndrome;not provided 2017-10-25 12.0 0.5 Pathogenic/Likely pathogenic 1 -266034 Simple 886039903 T . Pathogenic 2 2 not provided;Epileptic encephalopathy, early infantile, 47 2017-07-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -266129 Simple 886039920 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266130 Simple 80357569 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266131 Simple 886039921 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266132 Simple 886039922 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266133 Simple 886039923 GTGA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266134 Simple 886039924 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266135 Simple 886039925 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266136 Simple 886039926 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -266137 Simple 886039927 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266138 Simple 886039928 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266139 Simple 886039929 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266140 Simple 562553169 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266141 Simple 886039930 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266142 Simple 886039931 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266143 Simple 886039932 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266144 Simple 886039933 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266145 Simple 886039934 AG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266146 Simple 80357253 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266147 Simple 886039935 AGCTAGCT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266148 Simple 886039936 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266149 Simple 886039937 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266150 Simple 80357046 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266151 Simple 886039938 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266152 Simple 886039939 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266153 Simple 886039939 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266154 Simple 886039940 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266155 Simple 886039941 ACTTT . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266156 Simple 886039942 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266157 Simple 886039943 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266158 Simple 886039944 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266159 Simple 886039945 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266160 Simple 886039946 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266161 Simple 886039947 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266162 Simple 886039948 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266163 Simple 886039949 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266164 Simple 397508867 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266165 Simple 886039950 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266166 Simple 886039951 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266167 Simple 886039952 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 . 1.0 . 0 -266168 Simple 886039953 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266169 Simple 886039954 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266170 Simple 886039955 - . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.25 Pathogenic 0 -266171 Simple 886039956 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266172 Simple 886039957 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266173 Simple 80357427 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266174 Simple 886039958 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266175 Simple 886039959 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266176 Simple 730881471 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266177 Simple 483353085 CTTTC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266178 Simple 886039960 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266179 Simple 886039961 G . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266180 Simple 886039962 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266181 Simple 886039963 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266182 Simple 886039964 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266183 Simple 397508902 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266184 Simple 886039965 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266185 Simple 886039966 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266186 Simple 199522616 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266187 Simple 886039967 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266188 Simple 886039968 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266189 Simple 886039969 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266190 Simple 886039970 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266191 Simple 886039971 GCGC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266192 Simple 886039972 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266193 Simple 886039973 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266194 Simple 886039974 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266195 Simple 886039975 ACTA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266196 Simple 886039976 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266197 Simple 886039977 GTGGGCTTAGATTTGTGGGCTTAGATTT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266198 Simple 886039978 . . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266199 Simple 886039979 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266200 Simple 886039980 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266201 Simple 886039981 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266202 Simple 886039982 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266203 Simple 886039983 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266204 Simple 886039984 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266205 Simple 886039985 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266206 Simple 886039986 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266207 Simple 886039987 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -266208 Simple 886039988 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266209 Simple 886039989 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266210 Simple 886039990 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266211 Simple 587781448 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266212 Simple 886039991 TAT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266213 Simple 886039992 TA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266214 Simple 886039993 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266215 Simple 886039994 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266216 Simple 886039995 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266217 Simple 886039996 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266218 Simple 886039997 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266219 Simple 886039998 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266220 Simple 80357871 ACT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266221 Simple 886039999 TC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266222 Simple 886040000 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266223 Simple 886040001 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266224 Simple 886040002 TGTG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266225 Simple 886040003 CT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266226 Simple 886040004 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266227 Simple . . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266228 Simple 886040005 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266229 Simple 886040006 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266230 Simple 886040007 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266231 Simple 886040008 CCTTTTT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266232 Simple 886040009 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266233 Simple 886040010 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 16.8 2.0 Pathogenic 0 -266234 Simple 886040011 C . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266235 Simple 886040012 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266236 Simple 886040013 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266237 Simple 886040014 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266238 Simple 886040015 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266239 Simple 886040016 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266240 Simple 886040017 TTT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266241 Simple 886040018 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266242 Simple 886040019 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266243 Simple 886040020 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266244 Simple 886040021 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266245 Simple 886040022 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266246 Simple 80357063 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266247 Simple 886040023 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266248 Simple 886040024 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266249 Simple 886040025 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266250 Simple 80357444 C . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266251 Simple 886040026 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266252 Simple 886040027 AA . Pathogenic 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 27.0 1.2 Pathogenic 0 -266253 Simple 886040028 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266254 Simple 886040029 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266255 Simple 886040030 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266256 Simple 886040031 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266257 Simple 886040032 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266258 Simple 886040033 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266259 Simple 886040034 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266260 Simple 886040035 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266261 Simple 886040036 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266262 Simple 886040037 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266263 Simple 886040038 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266264 Simple 886040039 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266265 Simple 886040040 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266266 Simple 886040041 CA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266267 Simple 886040042 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 18.0 1.0 Pathogenic 0 -266268 Simple 397508972 AGGGG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266269 Simple 886040043 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266270 Simple 397508973 ATGGATACATGGATAC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266271 Simple 886040044 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266272 Simple 886040045 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266273 Simple 876658552 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266274 Simple 886040046 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266275 Simple 886040047 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266276 Simple 786203523 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266277 Simple 886040048 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266278 Simple 886040049 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266279 Simple 398122662 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266280 Simple 886040050 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266281 Simple 886040051 TTTT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266282 Simple 886040052 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266283 Simple 886040053 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266284 Simple 886040054 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266285 Simple 886040055 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266286 Simple 886040056 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266287 Simple 886040057 TGCC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266288 Simple 886040058 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266289 Simple 886040059 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266290 Simple 397508994 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266291 Simple 886040060 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266292 Simple 886040061 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266293 Simple 886040062 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266294 Simple 886040063 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266295 Simple 886040064 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266296 Simple 886040065 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266297 Simple 886040066 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266298 Simple 886040067 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266299 Simple 886040068 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266300 Simple 886040069 TG . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266301 Simple 886040070 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266302 Simple 886040071 TA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266303 Simple 886040072 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266304 Simple 886040073 AAAGCCTGCAGTGATAA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266305 Simple 886040074 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266306 Simple 886040075 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266307 Simple 886040076 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266308 Simple 886040077 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266309 Simple 886040077 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266310 Simple 886040078 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266311 Simple 886040079 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266312 Simple 80357295 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266313 Simple 886040080 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266314 Simple 886040081 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266315 Simple 886040082 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266316 Simple 879254027 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266317 Simple 886040083 GA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266318 Simple 886040084 AG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266319 Simple 886040085 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266320 Simple 886040086 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266321 Simple 886040087 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266322 Simple 878854941 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266323 Simple 886040088 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266324 Simple 886040089 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266325 Simple 886040090 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266326 Simple 886040091 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266327 Simple 886040092 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266328 Simple 786202534 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266329 Simple 886040093 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266330 Simple 886040094 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266331 Simple 80356936 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266332 Simple 886040095 TGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266333 Simple 80357967 TTTCTCTAATGTTATTTCTCTAATGTTA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266334 Simple 886040096 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266335 Simple 886040097 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266336 Simple 886040098 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266337 Simple 886040099 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266338 Simple 886040100 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266339 Simple . . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266340 Simple 886040101 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266341 Simple 886040102 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266342 Simple 886040103 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266343 Simple 886040104 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266344 Simple 886040105 TCTC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266345 Simple 886040106 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266346 Simple 483353088 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266347 Simple 886040107 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266348 Simple 886040108 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266349 Simple 886040109 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266350 Simple 886040110 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266351 Simple 886040111 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266352 Simple 886040112 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266353 Simple 886040113 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266354 Simple 886040114 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266355 Simple 886040115 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266356 Simple 886040116 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266357 Simple 886040117 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266358 Simple 886040118 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266359 Simple 886040119 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266360 Simple 886040120 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266361 Simple 886040121 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266362 Simple 781319410 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266363 Simple 886040122 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266364 Simple 886040123 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 14.4 2.0 Pathogenic/Likely pathogenic 1 -266365 Simple 886040124 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266366 Simple 886040125 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266367 Simple 886040126 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266368 Simple 886040127 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266369 Simple 886040128 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266370 Simple 886040129 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266371 Simple 886040130 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266372 Simple 886040131 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266373 Simple 886040132 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266374 Simple 886040133 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266375 Simple 886040134 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266376 Simple 886040135 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266377 Simple 886040136 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266378 Simple 886040137 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266379 Simple 886040138 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266380 Simple 886040139 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 . 1.0 . 0 -266381 Simple 886040140 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266382 Simple 886040141 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266383 Simple 886040142 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266384 Simple 886040143 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266385 Simple 886040144 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266386 Simple 886040145 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266387 Simple 886040146 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266388 Simple 886040147 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266389 Simple 886040148 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266390 Simple 886040149 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266391 Simple 886040150 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266392 Simple 886040151 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266393 Simple 886040152 CC . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 16.8 2.0 Pathogenic 0 -266394 Simple 886040153 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266395 Simple 886040155 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266396 Simple 886040156 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266397 Simple 886040157 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266398 Simple 886040158 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266399 Simple 886040159 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266400 Simple 886040160 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266401 Simple 886040161 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266402 Simple 886040162 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266403 Simple 886040163 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266404 Simple 886040164 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266405 Simple 886040165 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266406 Simple 886040166 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266407 Simple 886040167 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266408 Simple 886040168 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266409 Simple 886040169 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266410 Simple 886040170 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266411 Simple 886040171 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266412 Simple 397507221 GTGT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266413 Simple 876659708 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266414 Simple 886040172 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266415 Simple 886040173 TCC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266416 Simple 886040174 CACA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266417 Simple 886040175 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266418 Simple 886040176 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266419 Simple 886040177 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266420 Simple 886040178 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266421 Simple 886040179 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266422 Simple 886040180 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266423 Simple 886040181 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266424 Simple 886040182 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266425 Simple 886040183 GAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266426 Simple 886040184 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266427 Simple 886040185 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266428 Simple 886040186 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266429 Simple 886040187 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266430 Simple 886040188 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266431 Simple 886040189 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 . 1.0 . 0 -266432 Simple 886040190 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266433 Simple 886040191 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266434 Simple 886040192 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266435 Simple 886040193 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266436 Simple 886040194 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266437 Simple 886040195 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266438 Simple 886040196 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266439 Simple 886040197 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266440 Simple 886040198 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266441 Simple 886040199 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266442 Simple 886040200 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266443 Simple 886040201 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266444 Simple 886040202 AGAT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266445 Simple 886040203 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266446 Simple 886040204 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266447 Simple 886040205 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266448 Simple 886040206 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266449 Simple 886040207 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266450 Simple 886040208 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266451 Simple 886040209 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266452 Simple 483353079 TAGCCCTGAGTAGCCCTGAG . Pathogenic 3 4 Breast-ovarian cancer, familial 1;not provided 2016-10-18 22.8 1.75 Pathogenic 0 -266453 Simple 886040210 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266454 Simple 886040211 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266455 Simple 886040212 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266456 Simple 886040213 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266457 Simple 886040214 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266458 Simple 886040215 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266459 Simple 886040216 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266460 Simple 886040217 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266461 Simple 886040218 A . Pathogenic 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 0.75 Pathogenic 0 -266462 Simple 886040219 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266463 Simple 80357309 A . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266464 Simple 886040220 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266465 Simple 886040221 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266466 Simple 80357716 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266467 Simple 886040222 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266468 Simple 886040223 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266469 Simple 886040224 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266470 Simple 886040225 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266471 Simple 886040226 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266472 Simple 886040227 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266473 Simple 886040228 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266474 Simple 886040229 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266475 Simple 886040230 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266476 Simple 886040231 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266477 Simple 886040232 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266478 Simple 747539984 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266479 Simple 886040233 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266480 Simple 886040234 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266481 Simple 886040234 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266482 Simple 886040235 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266483 Simple 886040236 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266484 Simple 886040237 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266485 Simple 886040238 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266486 Simple 886040239 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266487 Simple 886040240 TTT . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266488 Simple 886040241 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266489 Simple 886040242 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266490 Simple 886040243 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266491 Simple 886040244 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266492 Simple 886040245 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266493 Simple 886040246 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266494 Simple 886040247 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266495 Simple 886040248 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266496 Simple 886040249 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266497 Simple 886040250 CACA . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266498 Simple . . . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266499 Simple 886040251 T . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266500 Simple 886040252 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266501 Simple 886040253 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266502 Simple 886040254 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266503 Simple 886040255 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266504 Simple 886040256 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266505 Simple 886040257 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266506 Simple . . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266507 Simple 483353097 GGCAAACTTGTACGGCAAACTTGTAC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266508 Simple 886040258 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266509 Simple 886040259 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266510 Simple 886040260 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266511 Simple 886040261 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266512 Simple 886040262 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266513 Simple 786203754 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266514 Simple 886040263 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266515 Simple 483353098 TTAGTTAG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266516 Simple 886040264 TAATTAAT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266517 Simple 886040264 TTAA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266518 Simple 886040265 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266519 Simple 886040266 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266520 Simple 886040267 GTTG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266521 Simple 886040268 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266522 Simple 886040269 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266523 Simple 886040270 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266524 Simple 886040271 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266525 Simple 886040272 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266526 Simple 397509230 T . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266527 Simple 886040273 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266528 Simple 886040274 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266529 Simple 878854957 A . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266530 Simple 886040275 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266531 Simple 886040276 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266532 Simple 886040277 GA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266533 Simple 886040278 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266534 Simple 80356937 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266535 Simple 886040279 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266536 Simple 886040280 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266537 Simple 886040281 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266538 Simple 886040282 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266539 Simple 886040283 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266540 Simple 886040284 G . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266541 Simple 886040285 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266542 Simple 886040286 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266543 Simple 886040287 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266544 Simple 886040288 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266545 Simple 886040289 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266546 Simple 886040290 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266547 Simple 886040291 CA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266548 Simple 886040292 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266549 Simple 886040293 TGTG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266550 Simple 886040294 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266551 Simple 886040295 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266552 Simple 879255492 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266553 Simple 886040296 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266554 Simple 886040297 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266555 Simple 886040298 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266556 Simple 886040299 GGGG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266557 Simple 886040300 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266558 Simple 886040299 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266559 Simple 80356977 C . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266560 Simple 886040301 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266561 Simple 886040302 . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266562 Simple 886040303 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266563 Simple 886040304 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266564 Simple 886040305 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266565 Simple 886040306 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266566 Simple 886040307 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266567 Simple 886040308 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266568 Simple 886040309 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266569 Simple 80357914 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266570 Simple 886040310 - . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266571 Simple 886040311 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266572 Simple 886040312 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266573 Simple 886040313 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266574 Simple 886040314 TACTGGGTTGATGATGTTCAGTATTTGTTAC . Pathogenic 3 1 Breast-ovarian cancer, familial 1 2016-10-18 . 1.0 . 0 -266575 Simple 886040315 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266576 Simple 886040316 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266577 Simple 886040317 TTTT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266578 Simple 886040318 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;not provided 2016-10-18 18.0 1.0 Pathogenic 0 -266579 Simple 886040319 CC . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266580 Simple 886040320 GCTCCACATGCGCTCCACATGC . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266581 Simple 886040321 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266582 Simple 886040322 TCCACATGGA . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266583 Simple 886040323 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266584 Simple 886040324 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266585 Simple 886040325 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 1 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266586 Simple 886040326 TGTG . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266587 Simple 886040327 - . Pathogenic 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266588 Simple 886040328 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266589 Simple 886040329 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266590 Simple 886040330 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266591 Simple 886040331 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266592 Simple 879255498 A . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266593 Simple 886040332 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266594 Simple . . . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266595 Simple 886040333 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266596 Simple 886040334 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266597 Simple 886040335 T . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266598 Simple 886040336 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266599 Simple 886040337 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266600 Simple 886040338 - . Pathogenic 3 2 Breast-ovarian cancer, familial 1 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266601 Simple 886040339 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266602 Simple 886040340 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266603 Simple 886040341 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266604 Simple 886040342 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266605 Simple 769368098 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266606 Simple 769368098 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266607 Simple 886040343 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266608 Simple 886040344 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266609 Simple 886040345 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266610 Simple 886040346 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266611 Simple 886040346 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266612 Simple 886040347 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266613 Simple 397515635 CAAC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266614 Simple 397515635 TTAT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266615 Simple 886040348 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266616 Simple 886040349 TTT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266617 Simple 886040350 ACAT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266618 Simple 886040351 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266619 Simple 886040352 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266620 Simple 397507266 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266621 Simple 886040353 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266622 Simple 886040354 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266623 Simple 886040355 TTTT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266624 Simple 886040356 G . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266625 Simple 886040357 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266626 Simple 886040358 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266627 Simple 886040359 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266628 Simple 886040360 CTCT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266629 Simple 886040361 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266630 Simple 886040362 GAGA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266631 Simple 886040363 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266632 Simple 587781799 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266633 Simple 886040364 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266634 Simple 886040365 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266635 Simple 886040366 CAGTCAGT . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266636 Simple 397507589 TTCC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266637 Simple 886040367 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266638 Simple 886040368 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266639 Simple 886040369 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266640 Simple 886040370 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266641 Simple 886040371 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266642 Simple 886040372 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266643 Simple 886040373 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266644 Simple 886040374 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 22.8 1.75 Pathogenic 0 -266645 Simple 886040375 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266646 Simple 886040376 CA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266647 Simple 886040377 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266648 Simple 886040378 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266649 Simple 483353110 ATT . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 30.0 1.2 Pathogenic 0 -266650 Simple 886040379 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266651 Simple 886040380 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266652 Simple 886040381 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266653 Simple 886040382 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266654 Simple 886040383 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266655 Simple 886040384 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266656 Simple 886040385 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266657 Simple 886040386 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266658 Simple 886040387 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266659 Simple 886040388 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266660 Simple 886040389 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266661 Simple 886040390 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266662 Simple 886040391 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266663 Simple 886040392 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266664 Simple 886040393 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266665 Simple 80359314 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266666 Simple 886040394 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266667 Simple 886040395 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266668 Simple 886040396 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266669 Simple 886040397 AT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266670 Simple 886040398 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266671 Simple 886040399 AGCTAGCT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266672 Simple 886040400 GAGA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266673 Simple 886040401 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266674 Simple 886040402 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266675 Simple 431825291 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266676 Simple 886040403 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266677 Simple 886040404 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266678 Simple 886040405 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266679 Simple 886040406 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266680 Simple 886040407 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266681 Simple 886040408 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266682 Simple 886040409 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266683 Simple 886040410 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266684 Simple 886040411 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266685 Simple 886040412 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266686 Simple 886040413 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266687 Simple 886040414 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266688 Simple 886040415 TTCAAAAGTGGAATTCAAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266689 Simple 886040416 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -266690 Simple 886040417 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266691 Simple 886040418 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266692 Simple 886040419 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266693 Simple 886040420 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266694 Simple 886040421 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266695 Simple 886040422 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266696 Simple 886040423 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266697 Simple 886040424 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266698 Simple 886040425 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266699 Simple 886040426 GAGA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266700 Simple 886040427 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266701 Simple 886040428 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266702 Simple 886040429 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266703 Simple 886040430 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266704 Simple 886040431 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266705 Simple 886040432 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266706 Simple 886040433 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266707 Simple 886040434 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266708 Simple 886040435 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266709 Simple 886040436 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266710 Simple 886040437 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266711 Simple 587782014 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266712 Simple 886040438 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266713 Simple 886040439 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266714 Simple 886040440 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266715 Simple 886040441 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266716 Simple 886040442 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266717 Simple 886040443 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266718 Simple 886040444 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266719 Simple 886040445 ATGG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266720 Simple 886040446 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266721 Simple 886040447 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266722 Simple 886040448 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266723 Simple 886040449 A . Pathogenic 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 36.0 1.0 Pathogenic 0 -266724 Simple 886040450 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266725 Simple 886040451 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266726 Simple 886040452 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266727 Simple 886040453 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266728 Simple 886040454 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266729 Simple 886040455 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -266730 Simple 886040456 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.5 Pathogenic 0 -266731 Simple 886040457 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266732 Simple 397507649 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Neoplasm of the breast 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266733 Simple 886040458 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266734 Simple 886040459 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266735 Simple 886040460 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266736 Simple 886040461 ATTTT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266737 Simple 886040462 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266738 Simple 886040463 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266739 Simple 886040464 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266740 Simple 886040465 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266741 Simple 886040466 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266742 Simple 886040467 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266743 Simple 777107618 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266744 Simple 886040468 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266745 Simple 886040469 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266746 Simple 886040470 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -266747 Simple 886040471 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266748 Simple 886040472 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266749 Simple 886040473 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266750 Simple 886040474 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266751 Simple 886040475 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266752 Simple 886040476 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266753 Simple 886040477 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266754 Simple 886040478 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266755 Simple 886040479 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266756 Simple 886040480 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.0 Pathogenic 0 -266757 Simple 886040481 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266758 Simple 886040482 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266759 Simple 886040483 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266760 Simple 886040484 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -266761 Simple 886040485 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266762 Simple 886040486 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -266763 Simple 886040487 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266764 Simple 886040488 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266765 Simple 886040489 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266766 Simple 886040490 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266767 Simple 886040491 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 20.4 1.25 Pathogenic 0 -266768 Simple 886040492 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266769 Simple 886040493 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266770 Simple 886040494 - . Pathogenic 3 2 Familial cancer of breast;Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266771 Simple 886040495 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266772 Simple 886040496 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2 2016-10-18 15.0 1.3333333333333333 Pathogenic 0 -266773 Simple 80358623 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266774 Simple 886040497 C . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266775 Simple 886040498 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266776 Simple 886040499 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266777 Simple 886040500 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266778 Simple 886040501 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266779 Simple 886040502 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266780 Simple 80358632 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266781 Simple 886040503 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266782 Simple 886040504 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266783 Simple 886040505 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266784 Simple 886040506 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266785 Simple 886040507 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266786 Simple 397515636 TTGC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266787 Simple 886040508 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266788 Simple 886040509 C . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266789 Simple 886040510 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266790 Simple 876658329 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266791 Simple 886040511 CATC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266792 Simple 886040512 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266793 Simple 886040513 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266794 Simple 886040514 TT . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266795 Simple 41293489 G . Pathogenic 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 30.0 0.8 Pathogenic 0 -266796 Simple 886040515 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 . 1.0 . 0 -266797 Simple 886040516 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266798 Simple 886040517 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266799 Simple 886040518 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266800 Simple 886040519 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266801 Simple 886040520 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266802 Simple 886040521 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266803 Simple 886040522 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266804 Simple 886040523 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266805 Simple 886040524 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266806 Simple 876659847 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -266807 Simple 886040525 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266808 Simple 886040526 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266809 Simple 886040527 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266810 Simple 886040528 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266811 Simple 886040529 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266812 Simple 886040530 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266813 Simple 886040531 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266814 Simple 886040532 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266815 Simple 886040533 TGTTTTT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266816 Simple 886040534 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266817 Simple 886040535 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266818 Simple 886040536 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266819 Simple 886040537 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266820 Simple 886040538 CGAT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266821 Simple 886040539 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266822 Simple 886040540 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266823 Simple 886040541 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266824 Simple 886040542 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266825 Simple 886040543 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266826 Simple 886040544 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266827 Simple 886040545 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266828 Simple 886040546 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266829 Simple 80358701 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266830 Simple 886040547 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266831 Simple 886040548 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 . 1.0 . 0 -266832 Simple 886040549 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266833 Simple 886040550 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266834 Simple 483353081 ATCGATCGAT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266835 Simple 886040551 GCTCT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266836 Simple 886040552 GG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266837 Simple 886040553 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided 2016-10-18 24.0 1.25 Pathogenic 0 -266838 Simple 886040554 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266839 Simple 886040555 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266840 Simple 886040556 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266841 Simple 886040558 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266842 Simple 886040559 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266843 Simple 886040560 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266844 Simple 886040561 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266845 Simple 886040562 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266846 Simple 886040563 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266847 Simple 886040564 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266848 Simple 886040565 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266849 Simple 886040566 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266850 Simple 886040567 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266851 Simple 886040568 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266852 Simple 886040569 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266853 Simple 886040570 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266854 Simple 886040571 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266855 Simple 886040572 TACAA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266856 Simple 886040573 CCCC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266857 Simple 886040574 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266858 Simple 886040575 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 18.6 0.6666666666666666 Pathogenic 0 -266859 Simple 886040576 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266860 Simple 886040577 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266861 Simple 886040578 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266862 Simple 886040579 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266863 Simple 886040580 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266864 Simple 886040581 . . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266865 Simple 886040582 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266866 Simple 886040583 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266867 Simple 886040584 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266868 Simple 886040585 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266869 Simple 886040586 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266870 Simple 886040587 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266871 Simple 886040588 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266872 Simple 886040589 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266873 Simple 80359508 AAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266874 Simple 886040590 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266875 Simple 587782240 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266876 Simple 886040591 GACTGACT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266877 Simple 886040592 GCGC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266878 Simple 886040593 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266879 Simple 886040594 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266880 Simple 886040595 TTGGCT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266881 Simple 886040596 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266882 Simple 886040597 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266883 Simple 886040598 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266884 Simple 886040599 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266885 Simple 886040600 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266886 Simple 886040601 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266887 Simple 886040602 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266888 Simple 886040603 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266889 Simple 886040604 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266890 Simple 886040605 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266891 Simple 886040606 AACG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266892 Simple 886040607 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266893 Simple 886040608 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 23.4 1.25 Pathogenic 0 -266894 Simple 886040609 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266895 Simple 886040610 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266896 Simple 886040611 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266897 Simple 886040612 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266898 Simple 886040613 ATCACCTTATCACCTT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266899 Simple 886040614 AA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266900 Simple 886040615 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266901 Simple 886040616 AGTT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266902 Simple 886040617 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266903 Simple 886040618 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266904 Simple 886040619 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266905 Simple 886040620 AGCTAAGCTA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266906 Simple 886040621 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266907 Simple 886040622 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266908 Simple 886038134 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266909 Simple 886040623 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266910 Simple 80358830 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266911 Simple 886040624 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266912 Simple 886040625 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266913 Simple 886040626 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266914 Simple 886040627 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266915 Simple 886040628 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266916 Simple 886040629 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266917 Simple 886040630 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266918 Simple 886040631 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266919 Simple 886040632 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266920 Simple 886040633 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266921 Simple 886040634 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266922 Simple 886040635 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266923 Simple 886040636 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266924 Simple 886040637 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266925 Simple 397507830 TGAG . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266926 Simple 886040638 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266927 Simple 886040639 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266928 Simple 786202461 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266929 Simple 886040640 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266930 Simple 886040641 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266931 Simple 886040642 T . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.0 Pathogenic 0 -266932 Simple 886040643 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266933 Simple 886040644 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266934 Simple 886040645 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266935 Simple 886040646 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266936 Simple 886040647 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266937 Simple 886040648 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266938 Simple 886040649 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266939 Simple 886040650 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266940 Simple 886040651 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266941 Simple 886040652 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266942 Simple 80359577 AAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266943 Simple 886040653 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266944 Simple 886040654 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266945 Simple 886040655 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266946 Simple 886040656 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266947 Simple 149330893 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266948 Simple 774539540 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266949 Simple 886040657 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266950 Simple 886040658 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266951 Simple 886040659 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266952 Simple 730881543 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266953 Simple 886040660 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 15.0 1.3333333333333333 Pathogenic 0 -266954 Simple 886040661 AA . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266955 Simple 886040662 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266956 Simple 886040663 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266957 Simple 80359601 CATTCATGCATTCATG . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266958 Simple 886040664 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.0 Pathogenic 0 -266959 Simple 886037798 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266960 Simple 886040665 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266961 Simple 371067421 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266962 Simple 397507867 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266963 Simple 886040666 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266964 Simple 886040667 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266965 Simple 886040668 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266966 Simple 886040669 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266967 Simple 886040670 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266968 Simple 886040671 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266969 Simple 886040672 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266970 Simple 775859905 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266971 Simple 886040673 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266972 Simple 886040674 CACA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266973 Simple 886040675 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266974 Simple 886040676 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266975 Simple 886040677 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266976 Simple 886040678 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266977 Simple 886040679 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266978 Simple 886040680 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266979 Simple 886040681 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266980 Simple 886040682 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266981 Simple 886040683 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266982 Simple 886040684 TG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266983 Simple 886040685 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -266984 Simple 80358940 T . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266985 Simple 886040686 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266986 Simple 886040687 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266987 Simple 886040688 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266988 Simple 886040689 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266989 Simple 876658803 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266990 Simple 886040690 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266991 Simple 397507902 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266992 Simple 886040691 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266993 Simple 886040692 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266994 Simple 886040693 TTCCTTCC . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -266995 Simple 886040694 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -266996 Simple 886040695 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266997 Simple 886040696 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266998 Simple 886040697 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -266999 Simple 886040698 C . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267000 Simple 886040698 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267001 Simple 886040699 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267002 Simple 886040700 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267003 Simple 886040701 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267004 Simple 886040702 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267005 Simple 886040703 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267006 Simple 886040704 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267007 Simple 886040705 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267008 Simple 80358961 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267009 Simple 886040706 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267010 Simple 886040707 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267011 Simple 886040708 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267012 Simple 886040709 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267013 Simple 886040710 TT . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.0 Pathogenic 0 -267014 Simple 876660447 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267015 Simple 886040711 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -267016 Simple 886040712 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267017 Simple 886040713 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267018 Simple 886040714 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267019 Simple 886040715 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -267020 Simple 886040716 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267021 Simple 886040717 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267022 Simple 886040718 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267023 Simple 886040719 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267024 Simple 886040720 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267025 Simple 886040721 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267026 Simple 886040722 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267027 Simple 886040723 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267028 Simple 886040724 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -267029 Simple 886040725 AAACAAT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267030 Simple 878853303 AAAA . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267031 Simple 886040726 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267032 Simple 876659346 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267033 Simple 886040727 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267034 Simple 886040728 ATACCATACC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267035 Simple 886040729 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267036 Simple 41293509 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -267037 Simple 886040730 - . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 21.6 2.0 Pathogenic 0 -267038 Simple 886040731 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267039 Simple 886040732 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 0.75 Pathogenic 0 -267040 Simple 886040733 GATCGATC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267041 Simple 886040734 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267042 Simple 886040735 GAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267043 Simple 876658889 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267044 Simple 886040736 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267045 Simple 80359025 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267046 Simple 886040737 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267047 Simple 886040738 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267048 Simple 886040739 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267049 Simple 886040740 . . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267050 Simple 886040741 AA . Pathogenic 3 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-10-18 24.0 1.0 Pathogenic 0 -267051 Simple 886040742 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267052 Simple 886040743 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267053 Simple 886040744 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267054 Simple 886040745 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267055 Simple 886040746 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267056 Simple 886040747 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267057 Simple 886040748 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267058 Simple 886040749 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267059 Simple 397507967 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267060 Simple 886040750 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267061 Simple 886040751 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267062 Simple 886040752 TA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267063 Simple 886040753 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267064 Simple 886040754 TCTC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267065 Simple 886040755 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267066 Simple 886040756 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267067 Simple 886040757 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267068 Simple 886040758 ATAT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267069 Simple 886040759 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267070 Simple 886040760 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267071 Simple 886040761 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267072 Simple 886037818 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267073 Simple 886040762 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267074 Simple 886040763 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267075 Simple 886040764 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267076 Simple 886040765 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267077 Simple 886040766 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267078 Simple 886040767 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267079 Simple 886040768 CTAGCTAG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267080 Simple 886040769 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267081 Simple 886040770 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267082 Simple 886040771 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267083 Simple 886040772 AAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267084 Simple 886040773 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267085 Simple 886040774 C . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267086 Simple 886040775 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267087 Simple 886040776 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267088 Simple 886040777 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267089 Simple 886040778 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267090 Simple 776353983 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267091 Simple 80359102 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267092 Simple 886040779 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267093 Simple 886040779 G . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267094 Simple 863224315 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267095 Simple 886040780 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267096 Simple 886040781 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267097 Simple 886040782 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267098 Simple 886040783 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267099 Simple 886040784 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267100 Simple 886040785 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267101 Simple 886040786 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267102 Simple 886040787 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267103 Simple 886040788 TT . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267104 Simple 886040789 AG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267105 Simple 886040790 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267106 Simple 886040791 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.0 Pathogenic 0 -267107 Simple 886040792 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267108 Simple 886040793 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267109 Simple 886040794 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267110 Simple 886040795 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267111 Simple 886040796 GGGG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267112 Simple 886040797 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267113 Simple 886040798 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267114 Simple 886040799 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267115 Simple 80359142 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 17.4 1.6666666666666667 Pathogenic 0 -267116 Simple 886040800 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267117 Simple 886040801 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267118 Simple 886040802 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267119 Simple 886040803 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267120 Simple 886040804 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267121 Simple 139052578 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267122 Simple 886040805 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267123 Simple 80359146 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267124 Simple 886040806 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267125 Simple 886040807 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267126 Simple 886040808 AGAT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267127 Simple 886040809 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267128 Simple 886040810 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267129 Simple 886040811 TCTA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267130 Simple 886040812 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267131 Simple 886040813 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267132 Simple 886040814 GG . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267133 Simple 886040815 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267134 Simple 886040816 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267135 Simple 397507418 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267136 Simple 886040817 AAAA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267137 Simple 886040818 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267138 Simple 886040819 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267139 Simple 202155613 T . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267140 Simple 886040820 TACT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267141 Simple 886040821 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267142 Simple 886040822 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267143 Simple 886040823 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267144 Simple 80359175 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267145 Simple 886040824 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267146 Simple 886040825 ATTT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267147 Simple 886040826 CC . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267148 Simple 886040827 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267149 Simple 886040828 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267150 Simple 886040829 . . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267151 Simple 886040830 AA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267152 Simple 886040831 CCT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267153 Simple 886040832 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267154 Simple 886040833 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267155 Simple 886040834 AT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267156 Simple 886040835 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267157 Simple 886040836 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267158 Simple 886040837 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267159 Simple 886040838 G . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267160 Simple 886040839 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267161 Simple 886040840 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267162 Simple 886040841 CC . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267163 Simple 886040842 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267164 Simple 886040843 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267165 Simple 886040844 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267166 Simple 886040845 CTGCATGCAAATGACTGCATGCAAATGA . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267167 Simple 886040846 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267168 Simple 886040847 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267169 Simple 886040848 - . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267170 Simple 886040849 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267171 Simple 886040850 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267172 Simple 886040851 - . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 15.0 1.0 Pathogenic 0 -267173 Simple 80359242 T . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267174 Simple 886040852 A . Pathogenic 3 1 Breast-ovarian cancer, familial 2 2016-10-18 . 1.0 . 0 -267175 Simple 886040853 TT . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267176 Simple 886040854 - . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267177 Simple 4987049 A . Pathogenic 3 3 Breast-ovarian cancer, familial 2;not provided 2016-10-18 18.0 1.3333333333333333 Pathogenic 0 -267178 Simple 276174931 A . Pathogenic 3 2 Breast-ovarian cancer, familial 2 2016-10-18 12.0 1.5 Pathogenic/Likely pathogenic 1 -267224 Simple 276174856 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2015-04-08 -0.51 2.5 Uncertain significance 0 -267420 Simple 886040982 - . Pathogenic 2 2 CHARGE association;not provided 2016-09-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -267421 Simple 886040983 T . Pathogenic 2 2 CHARGE association;not provided 2016-09-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -267423 Simple 886040985 T . Pathogenic 2 2 CHARGE association 2017-10-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -267427 Simple 886040988 A . Likely pathogenic 2 2 CHARGE association;not provided 2017-03-30 6.0 0.5 Likely pathogenic 0 -267430 Simple 886040991 T . Pathogenic 2 2 CHARGE association;not provided 2017-02-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -267434 Simple 757160222 T . Pathogenic 2 2 CHARGE association;not provided 2016-10-21 12.0 1.0 Pathogenic/Likely pathogenic 1 -267435 Simple 886040995 T . Pathogenic 2 2 CHARGE association;not provided 2017-10-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -267512 Simple 80356913 G . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 14.4 1.0 Pathogenic/Likely pathogenic 0 -267514 Simple 886040903 C . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;not provided 2017-06-08 8.4 1.0 Pathogenic/Likely pathogenic 0 -267517 Simple 587782173 G . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-09-28 8.4 1.5 Pathogenic/Likely pathogenic 0 -267572 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2015-10-02 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -267598 Simple 80358182 G . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-04-16 8.4 1.0 Pathogenic/Likely pathogenic 0 -267653 Simple 81002899 A . Pathogenic 2 2 Breast-ovarian cancer, familial 2;not provided 2017-06-10 11.4 1.0 Pathogenic/Likely pathogenic 1 -267661 Simple 886040932 - . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2016-12-21 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -267684 Simple 886040940 G . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-04-22 8.4 1.5 Pathogenic/Likely pathogenic 0 -267692 Simple 398122602 C . Pathogenic/Likely pathogenic 2 4 Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-12 19.8 1.25 Pathogenic 1 -267704 Simple 397508006 T . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2016-04-14 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -267716 Simple 886040950 A . Pathogenic 2 2 Breast-ovarian cancer, familial 2 2016-04-11 11.4 1.5 Pathogenic/Likely pathogenic 1 -267722 Simple 886040954 G . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-26 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -267746 Simple 886040971 A . Pathogenic 2 3 Trichorhinophalangeal syndrome type 3;Trichorhinophalangeal dysplasia type I;not provided 2017-04-19 17.4 0.6666666666666666 Pathogenic 0 -268080 Simple 778187343 G . Uncertain significance 2 4 Liver cancer;Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;Hepatocellular carcinoma;Dyskeratosis Congenita, Recessive 2017-05-22 -1.2 0.75 Uncertain significance 0 -268155 Simple 1057519389 A . Pathogenic 2 2 Global developmental delay;Expressive language delay;not provided;Intellectual disability;Ataxia;Muscular hypotonia;Hypotonia, ataxia, and delayed development syndrome 2017-05-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -268156 Simple 1057519389 T . Pathogenic 2 2 Global developmental delay;Expressive language delay;Intellectual disability;Ataxia;Muscular hypotonia;Hypotonia, ataxia, and delayed development syndrome 2017-02-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -268213 Simple 199535970 T . Uncertain significance 2 2 Dystonia 1;not specified;not provided 2017-09-13 -0.6 0.0 Uncertain significance 0 -279598 Simple 886041116 A . Pathogenic/Likely pathogenic 2 3 Seizures;Hypothyroidism;Stereotypy;not provided;Helsmoortel-van der aa syndrome;Abnormality of the teeth;Aggressive behavior;Growth hormone deficiency;Global developmental delay;Agenesis of corpus callosum 2016-09-30 17.4 1.3333333333333333 Pathogenic 1 -279678 Simple 886041125 - . Pathogenic 2 3 KBG syndrome;not provided 2017-11-08 18.0 0.3333333333333333 Pathogenic 0 -279681 Simple 587779798 C . Pathogenic/Likely pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-21 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -279684 Simple 754201976 A . Pathogenic 2 2 Androgen resistance syndrome;not provided 2017-08-05 11.4 1.0 Pathogenic/Likely pathogenic 1 -279694 Simple 868044680 T . Pathogenic/Likely pathogenic 2 2 not provided;Bainbridge-Ropers syndrome 2016-08-29 8.7 1.5 Pathogenic/Likely pathogenic 0 -279697 Simple 747846089 T . Uncertain significance 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-08-17 -0.6 0.0 Uncertain significance 0 -279698 Simple 886041139 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -279700 Simple 886041140 T . Uncertain significance 2 2 not specified 2016-01-11 -0.54 2.0 Uncertain significance 0 -279703 Simple 776913277 TT . Pathogenic 2 4 Rigidity and multifocal seizure syndrome, lethal neonatal;not provided 2017-06-15 23.4 0.5 Pathogenic 0 -279704 Simple 886041143 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-07 -0.6 1.0 Uncertain significance 0 -279706 Simple 756105620 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -1.17 0.75 Uncertain significance 0 -279707 Simple 886041145 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-09-12 -0.87 1.3333333333333333 Uncertain significance 0 -279708 Simple 746599076 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-23 -0.6 0.5 Uncertain significance 0 -279710 Simple 770966270 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2016-12-26 -0.5700000000000001 1.5 Uncertain significance 0 -279723 Simple 542914369 C . Uncertain significance 2 2 Long QT syndrome;not specified 2017-03-08 -0.5700000000000001 1.0 Uncertain significance 0 -279729 Simple 144060377 T . Uncertain significance 2 3 not specified;Desbuquois Dysplasia 2016-06-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -279733 Simple 112626848 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -279735 Simple 776563500 T . Uncertain significance 2 2 Long QT syndrome;not specified 2017-07-12 -0.6 0.5 Uncertain significance 0 -279745 Simple 746392709 - . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -1.17 0.75 Uncertain significance 0 -279752 Simple 41299613 C . Uncertain significance 2 2 Mesangiocapillary glomerulonephritis, type II;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -279765 Simple 886041171 T . Uncertain significance 2 2 Familial cancer of breast;not specified 2016-11-08 -0.6 1.0 Uncertain significance 0 -279766 Simple 201544715 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -1.2 0.25 Uncertain significance 0 -279768 Simple 886041173 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-01-30 -1.2 1.0 Uncertain significance 0 -279778 Simple 886041182 - . Pathogenic 2 3 Congenital myotonia, autosomal recessive form;not provided 2017-09-27 18.0 0.3333333333333333 Pathogenic 0 -279781 Simple 886041184 - . Pathogenic/Likely pathogenic 2 2 Cohen syndrome;not provided 2016-10-04 8.7 1.5 Pathogenic/Likely pathogenic 0 -279782 Simple 886041185 AA . Pathogenic/Likely pathogenic 2 2 Cohen syndrome;not provided 2016-07-06 8.7 1.5 Pathogenic/Likely pathogenic 0 -279805 Simple 886041199 GCGC . Pathogenic 2 2 Multiple exostoses type 2;not provided 2017-05-23 12.0 0.0 Pathogenic/Likely pathogenic 1 -279807 Simple 886041201 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-29 10.8 2.0 Pathogenic/Likely pathogenic 1 -279808 Simple 886041202 TT . Uncertain significance 2 3 Hereditary leiomyomatosis and renal cell cancer;not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -279809 Simple 542489955 GG . Pathogenic 2 2 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss;not provided;Joint hypermobility;Thoracolumbar scoliosis;Congenital muscular dystrophy;Pes valgus;Muscular hypotonia 2017-06-29 12.0 0.0 Pathogenic/Likely pathogenic 1 -279811 Simple 779556619 C . Pathogenic 2 3 Glycogen storage disease, type II;not provided 2017-06-09 18.0 0.6666666666666666 Pathogenic 0 -279817 Simple 377227909 A . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-26 -0.6 0.5 Uncertain significance 0 -279822 Simple 372028322 T . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2016-09-03 -0.6 1.0 Uncertain significance 0 -279823 Simple 771399291 T . Uncertain significance 2 2 not specified;Scoliosis;Hemihypertrophy;Congenital contracture;Arthrogryposis multiplex congenita;Decreased muscle mass;Short lower limbs;Upper limb undergrowth 2016-01-26 -0.51 2.5 Uncertain significance 0 -279825 Simple 146161469 G . Uncertain significance 2 2 not specified;Nemaline myopathy 8 2017-08-08 -0.6 0.5 Uncertain significance 0 -279835 Simple 139104492 A . Uncertain significance 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-04-14 -0.6 0.0 Uncertain significance 0 -279838 Simple 772226399 - . Pathogenic 2 2 not provided;LIG4-Related Disorders 2016-06-14 11.4 1.5 Pathogenic/Likely pathogenic 1 -279845 Simple 138556525 A . Pathogenic/Likely pathogenic 2 2 Hepatic methionine adenosyltransferase deficiency;not provided 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -279846 Simple 199626531 A . Uncertain significance 2 3 Mental retardation, autosomal dominant 1;not specified;Intellectual Disability, Dominant 2017-08-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -279848 Simple 74346519 A . Uncertain significance 2 2 not specified 2016-03-07 -0.5700000000000001 1.5 Uncertain significance 0 -279850 Simple 886041213 TT . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-06 11.4 1.5 Pathogenic/Likely pathogenic 1 -279852 Simple 767319284 GG . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-10-19 18.0 0.0 Pathogenic 0 -279857 Simple 886041218 T . Pathogenic 2 3 Beckwith-Wiedemann syndrome;Sotos syndrome 1;not provided 2016-11-25 17.4 1.3333333333333333 Pathogenic 0 -279860 Simple 886041220 TT . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2016-12-02 12.0 1.0 Pathogenic/Likely pathogenic 0 -279862 Simple 886041222 A . Pathogenic 2 3 Aniridia 1;Irido-corneo-trabecular dysgenesis;not provided 2017-06-19 17.4 1.0 Pathogenic 0 -279870 Simple 886041224 T . Pathogenic 2 2 not provided 2017-05-02 12.0 0.0 Pathogenic/Likely pathogenic 1 -279871 Simple 886041225 A . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2017-06-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -279872 Simple 886041226 T . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2017-06-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -279873 Simple 886041227 T . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2017-03-06 10.2 2.0 Pathogenic/Likely pathogenic 1 -279877 Simple 886041228 T . Pathogenic 2 2 Carney complex, type 1;not provided 2017-05-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -279889 Simple 886041237 CC . Pathogenic/Likely pathogenic 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-02-22 12.0 1.0 Pathogenic/Likely pathogenic 0 -279896 Simple 55683010 G . Pathogenic 2 2 Microphthalmia syndromic 3;not provided 2016-03-21 11.4 1.5 Pathogenic/Likely pathogenic 1 -279904 Simple 886041246 A . Pathogenic 2 2 Early infantile epileptic encephalopathy 4;not provided;Early infantile epileptic encephalopathy 2016-09-09 12.0 1.0 Pathogenic/Likely pathogenic 1 -279911 Simple 142634031 C . Pathogenic 2 2 not provided 2017-11-03 12.0 0.0 Pathogenic/Likely pathogenic 1 -279914 Simple 774395395 GG . Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2016-08-30 6.0 1.0 Likely pathogenic 0 -279919 Simple 767503386 T . Uncertain significance 2 2 not specified;Rasopathy 2016-11-22 -0.6 1.0 Uncertain significance 0 -279925 Simple 145611571 A . Uncertain significance 2 2 not specified;Rasopathy 2017-06-05 -0.6 0.5 Uncertain significance 0 -279934 Simple 146722878 G . Uncertain significance 2 2 Noonan syndrome 4;not specified 2017-08-01 -0.6 0.5 Uncertain significance 0 -279944 Simple 886041272 TGCTTGCT . Pathogenic 2 2 Multiple exostoses type 2;not provided 2017-06-12 12.0 0.0 Pathogenic/Likely pathogenic 1 -279961 Simple 139590686 G . Pathogenic 2 2 not provided;POLG-Related Spectrum Disorders 2017-06-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -279978 Simple 886041297 - . Pathogenic 2 2 Laminin alpha 2-related dystrophy;not provided 2017-06-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -280004 Simple 886041316 - . Pathogenic 2 2 Pontocerebellar hypoplasia, type 1b;not provided 2017-01-11 12.0 1.0 Pathogenic/Likely pathogenic 1 -280005 Simple 886041317 G . Pathogenic 2 3 Autosomal dominant optic atrophy plus syndrome;Dominant hereditary optic atrophy;not provided 2016-10-05 18.0 1.0 Pathogenic 0 -280015 Simple 149070244 G . Pathogenic/Likely pathogenic 2 3 Non-ketotic hyperglycinemia;not provided 2017-06-05 14.4 1.0 Pathogenic/Likely pathogenic 0 -280016 Simple 753160398 A . Pathogenic/Likely pathogenic 2 2 Progressive sclerosing poliodystrophy;not provided 2016-05-26 9.0 1.0 Pathogenic/Likely pathogenic 0 -280018 Simple 886041323 - . Pathogenic/Likely pathogenic 2 2 Cohen syndrome;not provided 2016-08-23 9.0 1.0 Pathogenic/Likely pathogenic 0 -280031 Simple 138336847 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -280032 Simple 886041332 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-05-04 10.2 2.5 Pathogenic/Likely pathogenic 1 -280037 Simple 761211705 A . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;not provided 2016-06-14 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -280038 Simple 776043976 T . Pathogenic 2 4 Limb-girdle muscular dystrophy, type 2A;not provided 2017-04-27 22.200000000000003 1.5 Pathogenic 0 -280039 Simple 886041335 G . Pathogenic 2 2 not provided 2016-12-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -280042 Simple 886041338 A . Pathogenic 2 2 Mowat-Wilson syndrome;not provided 2016-06-20 12.0 1.0 Pathogenic/Likely pathogenic 1 -280044 Simple 886041340 ACAGACAG . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-05 14.4 1.0 Pathogenic/Likely pathogenic 0 -280050 Simple 483353078 . . Pathogenic 2 2 not provided 2017-05-19 11.4 1.0 Pathogenic/Likely pathogenic 1 -280055 Simple 886041347 T . Pathogenic/Likely pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-06-23 18.0 0.6666666666666666 Pathogenic 1 -280063 Simple 752921215 A . Pathogenic 2 2 Glycogen storage disease, type II;not provided 2016-06-08 12.0 1.0 Pathogenic/Likely pathogenic 1 -280072 Simple 886041359 A . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2016-05-12 10.2 2.5 Pathogenic/Likely pathogenic 1 -280074 Simple 886041361 T . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2017-04-19 10.2 2.0 Pathogenic/Likely pathogenic 1 -280076 Simple 886041363 T . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2016-05-09 10.2 2.5 Pathogenic/Likely pathogenic 1 -280077 Simple 886041364 TGATTGAT . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2016-06-28 10.2 2.5 Pathogenic/Likely pathogenic 1 -280079 Simple 886041366 AA . Pathogenic 2 2 not provided 2016-12-20 12.0 1.0 Pathogenic/Likely pathogenic 1 -280082 Simple 886041369 A . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2017-06-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -280087 Simple 886041374 A . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2016-07-12 10.2 2.5 Pathogenic/Likely pathogenic 1 -280094 Simple 202199411 A . Pathogenic/Likely pathogenic 2 2 Spastic ataxia Charlevoix-Saguenay type;not provided 2017-08-03 9.0 0.5 Pathogenic/Likely pathogenic 0 -280095 Simple 752059006 A . Pathogenic/Likely pathogenic 2 1 not provided;Abnormality of brain morphology 2016-05-31 . 1.0 . 0 -280100 Simple 150885084 A . Pathogenic 2 3 Congenital myotonia, autosomal recessive form;not provided 2016-10-18 17.4 1.3333333333333333 Pathogenic 0 -280101 Simple 146457619 G . Pathogenic 2 2 not provided 2017-07-12 11.4 1.0 Pathogenic/Likely pathogenic 1 -280102 Simple 886041384 A . Pathogenic 2 2 not provided 2016-12-21 10.8 2.0 Pathogenic/Likely pathogenic 1 -280103 Simple 886041385 CC . Pathogenic 2 2 not provided 2017-01-26 11.4 1.5 Pathogenic/Likely pathogenic 1 -280105 Simple 886041387 - . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 2D;not provided 2017-06-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -280110 Simple 886041390 T . Pathogenic 2 2 not provided 2016-03-12 10.8 2.0 Pathogenic/Likely pathogenic 1 -280112 Simple 751247865 T . Pathogenic 2 2 Hemophagocytic lymphohistiocytosis, familial, 2;not provided 2017-06-05 11.4 1.0 Pathogenic/Likely pathogenic 1 -280113 Simple 201953584 A . Pathogenic 2 2 Pyruvate kinase deficiency of red cells;not provided 2016-06-28 12.0 1.0 Pathogenic/Likely pathogenic 1 -280126 Simple 886041398 A . Pathogenic/Likely pathogenic 2 3 Kabuki syndrome 1;not provided;Kabuki syndrome 2017-07-12 15.0 0.6666666666666666 Pathogenic 1 -280127 Simple 886041399 - . Pathogenic 2 2 not provided 2016-12-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -280132 Simple 886041404 T . Pathogenic 2 2 Kabuki syndrome 1;not provided 2016-10-11 12.0 1.0 Pathogenic/Likely pathogenic 1 -280148 Simple 760270633 T . Pathogenic 2 2 not provided;Epileptic encephalopathy, early infantile, 31 2017-11-02 12.0 0.0 Pathogenic/Likely pathogenic 1 -280181 Simple 886041434 G . Pathogenic 2 2 Ullrich congenital muscular dystrophy 1;not provided 2016-05-18 11.4 1.5 Pathogenic/Likely pathogenic 1 -280237 Simple 878853263 C . Pathogenic 2 2 N-terminal acetyltransferase deficiency;not provided 2017-01-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -280248 Simple 886041487 - . Pathogenic/Likely pathogenic 2 2 Ceroid lipofuscinosis neuronal 2;not provided 2016-01-20 8.100000000000001 2.0 Likely pathogenic 1 -280309 Simple 886041538 A . Pathogenic 2 2 Tuberous sclerosis 1;not provided 2017-04-22 11.4 1.0 Pathogenic/Likely pathogenic 1 -280322 Simple 886041551 - . Pathogenic 2 2 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided 2016-09-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -280333 Simple 886041559 CC . Pathogenic/Likely pathogenic 2 2 Biotinidase deficiency;not provided 2016-08-24 8.4 1.5 Pathogenic/Likely pathogenic 0 -280414 Simple 886041625 CAGTCAGT . Pathogenic 2 2 not provided;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 12.0 0.0 Pathogenic/Likely pathogenic 1 -280420 Simple 886041631 - . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2017-08-31 12.0 0.5 Pathogenic/Likely pathogenic 1 -280480 Simple 761848111 A . Pathogenic 2 2 KBG syndrome;not provided 2017-11-08 12.0 0.0 Pathogenic/Likely pathogenic 1 -280499 Simple 886041691 G . Pathogenic/Likely pathogenic 2 2 not provided;Malignant migrating partial seizures of infancy 2016-11-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -280510 Simple 149644940 C . Pathogenic 2 2 Mental retardation, autosomal recessive 27;not provided 2017-04-20 12.0 0.0 Pathogenic/Likely pathogenic 1 -280515 Simple 886041706 - . Pathogenic 2 2 Mental retardation, autosomal dominant 12;not provided 2017-01-29 12.0 1.0 Pathogenic/Likely pathogenic 1 -280614 Simple 886041262 G . Pathogenic 2 2 Early infantile epileptic encephalopathy 7;not provided 2017-03-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -280620 Simple 886041791 A . Pathogenic/Likely pathogenic 2 2 KBG syndrome;not provided 2017-03-09 9.0 0.5 Pathogenic/Likely pathogenic 0 -280660 Simple 886041826 AA . Pathogenic/Likely pathogenic 2 2 Sjögren-Larsson syndrome;not provided 2016-06-14 9.0 1.0 Pathogenic/Likely pathogenic 0 -280697 Simple 886041854 - . Pathogenic/Likely pathogenic 2 3 Emery-Dreifuss muscular dystrophy 1, X-linked;not provided 2017-07-17 15.0 0.6666666666666666 Pathogenic 1 -280708 Simple 750447037 T . Pathogenic/Likely pathogenic 2 2 not provided 2017-02-28 9.0 1.0 Pathogenic/Likely pathogenic 0 -280721 Simple 886041874 C . Pathogenic/Likely pathogenic 2 2 Seizures;not provided;Epileptic encephalopathy 2016-07-06 8.4 2.0 Pathogenic/Likely pathogenic 0 -280723 Simple 886041876 A . Pathogenic/Likely pathogenic 2 2 Mental retardation, X-linked, syndromic, turner type;not provided 2017-01-18 9.0 1.0 Pathogenic/Likely pathogenic 0 -280727 Simple 886041878 TT . Pathogenic 2 2 not provided 2016-07-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -280774 Simple 886041919 T . Pathogenic 2 2 Tuberous sclerosis 2;not provided 2017-04-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -280793 Simple 886041936 A . Pathogenic 2 2 not provided;Abnormal facial shape;Delayed speech and language development;Microcephaly;Global developmental delay;Intrauterine growth retardation;Sparse scalp hair 2016-08-23 10.8 2.0 Pathogenic/Likely pathogenic 1 -280820 Simple 730880218 C . Uncertain significance 2 2 not specified;Rasopathy 2016-12-24 -0.6 1.0 Uncertain significance 0 -280858 Simple 765443042 A . Pathogenic 2 2 Carpenter syndrome 1;not provided 2017-06-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -280937 Simple 886042051 T . Pathogenic/Likely pathogenic 2 2 X-linked severe combined immunodeficiency;not provided 2016-10-27 9.0 1.0 Pathogenic/Likely pathogenic 0 -280955 Simple 143523371 A . Pathogenic 2 2 Glycogen storage disease, type II 2016-03-30 11.4 1.5 Pathogenic/Likely pathogenic 1 -280959 Simple 886042057 G . Pathogenic/Likely pathogenic 2 2 Galactosylceramide beta-galactosidase deficiency;not provided 2017-09-06 8.7 1.0 Pathogenic/Likely pathogenic 0 -280981 Simple 201574732 T . Benign/Likely benign 2 3 3-Methylglutaconic aciduria type 3;not specified;Optic Atrophy, Dominant 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -280988 Simple 777956287 - . Pathogenic 2 2 Mucopolysaccharidosis, MPS-III-A;Sanfilippo syndrome;Mucopolysaccharidosis Type III 2016-09-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -280992 Simple 147490060 T . Benign 2 2 not specified;not provided 2017-01-27 -12.0 1.0 Benign/Likely benign 1 -281004 Simple 76338717 G . Benign/Likely benign 2 4 Tyrosinemia type I;not specified;Hypertyrosinemia 2017-04-15 -20.4 1.0 Benign/Likely benign 0 -281010 Simple 779250698 - . Pathogenic/Likely pathogenic 2 2 Homocystinuria due to CBS deficiency 2016-07-15 9.0 1.0 Pathogenic/Likely pathogenic 0 -281021 Simple 6526806 A . Benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-08-11 -12.0 1.0 Benign/Likely benign 1 -281046 Simple 2682091 G . Benign/Likely benign 2 3 Niemann-Pick disease, type B;Niemann-Pick disease, type A;Sphingomyelin/cholesterol lipidosis;not specified 2017-07-18 -15.0 0.6666666666666666 Benign/Likely benign 0 -281048 Simple 183272965 A . Uncertain significance 2 2 not specified 2017-04-07 -0.5700000000000001 1.0 Uncertain significance 0 -281062 Simple 886042090 - . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;Muscle weakness;Arrhythmia;Elbow flexion contracture;Muscular dystrophy;Contractures of the joints of the lower limbs 2015-12-09 15.600000000000001 2.3333333333333335 Pathogenic 0 -281063 Simple 886042091 T . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided 2016-09-28 22.200000000000003 1.75 Pathogenic 0 -281070 Simple 142416150 C . Uncertain significance 2 4 Spheroid body myopathy;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2016-06-14 -1.17 1.25 Uncertain significance 0 -281078 Simple 145714866 T . Likely benign 2 2 not specified 2016-06-01 -6.0 1.0 Likely benign 0 -281087 Simple 886044771 A . Pathogenic 2 2 Emery-Dreifuss muscular dystrophy 1, X-linked;not provided 2015-06-26 10.2 2.5 Pathogenic/Likely pathogenic 1 -281095 Simple 6182 T . Benign/Likely benign 2 2 Laron-type isolated somatotropin defect;not specified 2016-07-14 -9.0 1.0 Benign/Likely benign 0 -281096 Simple 6184 A . Benign/Likely benign 2 3 Laron-type isolated somatotropin defect;not specified 2017-06-29 -15.0 0.6666666666666666 Benign/Likely benign 0 -281098 Simple 377278762 A . Uncertain significance 2 3 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified 2017-06-01 -0.87 0.6666666666666666 Uncertain significance 0 -281104 Simple 139879284 T . Uncertain significance 2 3 not specified 2017-04-17 -0.87 1.0 Uncertain significance 0 -281108 Simple 3125001 T . Benign 2 2 not specified 2016-09-22 -11.4 1.5 Benign/Likely benign 1 -281115 Simple 116105264 G . Benign 2 2 Myoclonic dystonia;not specified 2017-07-08 -11.4 1.0 Benign/Likely benign 1 -281116 Simple 200967041 A . Uncertain significance 2 4 Charcot-Marie-Tooth disease, type IV;not specified 2017-10-17 -1.17 0.5 Uncertain significance 0 -281117 Simple 115777661 G . Benign/Likely benign 2 7 Achondrogenesis, type IB;Atelosteogenesis type 2;Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;Achondrogenesis;Osteochondrodysplasia;not specified;Atelosteogenesis 2017-06-16 -26.4 1.0 Benign 1 -281118 Simple 76784312 C . Benign 2 2 Achondrogenesis, type IB;Atelosteogenesis type 2;Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;not specified 2017-06-16 -11.4 1.0 Benign/Likely benign 1 -281119 Simple 151158105 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-05-23 -17.4 1.0 Benign/Likely benign 0 -281124 Simple 139636644 T . Benign/Likely benign 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -281125 Simple 149752325 T . Benign/Likely benign 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -281135 Simple 148376885 A . Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-11-07 -12.0 0.75 Benign/Likely benign 1 -281136 Simple 148346599 T . Benign/Likely benign 2 5 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-30 -17.4 0.8 Benign/Likely benign 0 -281137 Simple 112762655 T . Uncertain significance 2 2 Mulibrey nanism syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281138 Simple 45624933 T . Benign/Likely benign 2 2 not specified 2017-06-02 -8.4 1.0 Benign/Likely benign 0 -281145 Simple 117754060 C . Likely benign 2 3 Holoprosencephaly sequence;not specified;Holoprosencephaly 2017-07-05 -8.7 1.0 Benign/Likely benign 1 -281148 Simple 751466815 C . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2D;not specified 2017-04-13 -0.6 0.5 Uncertain significance 0 -281152 Simple 775200333 T . Pathogenic/Likely pathogenic 2 2 Deficiency of alpha-mannosidase 2016-06-14 8.4 1.5 Pathogenic/Likely pathogenic 0 -281156 Simple 73668310 T . Benign 2 2 not specified 2016-10-11 -11.4 1.5 Benign/Likely benign 1 -281160 Simple 369775705 T . Benign/Likely benign 2 6 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-28 -23.4 0.8333333333333334 Benign/Likely benign 0 -281161 Simple 6151410 A . Benign/Likely benign 2 4 Metachromatic leukodystrophy;not specified 2017-07-18 -20.4 0.75 Benign/Likely benign 0 -281163 Simple 147398904 T . Uncertain significance 2 2 not specified 2016-12-29 -0.5700000000000001 1.5 Uncertain significance 0 -281164 Simple 144484744 T . Likely benign 2 3 Bethlem myopathy 1;not specified 2017-08-03 -8.4 1.3333333333333333 Benign/Likely benign 1 -281181 Simple 190940697 A . Benign/Likely benign 2 2 Nephronophthisis;not specified 2017-07-28 -8.7 1.0 Benign/Likely benign 0 -281198 Simple 200320729 AA . Benign/Likely benign 2 2 Aicardi Goutieres syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -281200 Simple 56192595 - . Benign/Likely benign 2 3 Jarcho-Levin syndrome;not specified 2016-06-14 -14.100000000000001 1.6666666666666667 Benign/Likely benign 0 -281204 Simple 12085009 C . Benign 2 2 not specified 2016-10-18 -11.4 1.5 Benign/Likely benign 1 -281205 Simple 4782300 T . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -17.4 1.3333333333333333 Benign/Likely benign 1 -281207 Simple 756192425 T . Uncertain significance 2 2 not specified 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -281210 Simple 17847484 G . Benign/Likely benign 2 4 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness;not specified;Thiamine-responsive megaloblastic anemia 2016-07-21 -17.4 1.25 Benign/Likely benign 0 -281211 Simple 35012521 A . Benign/Likely benign 2 3 Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;not specified 2017-07-25 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -281220 Simple 186249490 A . Benign/Likely benign 2 2 Brachydactyly;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -281221 Simple 201427280 G . Uncertain significance 2 3 Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -0.87 1.0 Uncertain significance 0 -281229 Simple 201201443 A . Pathogenic 2 2 Glycogen storage disease type III 2017-02-03 12.0 1.0 Pathogenic/Likely pathogenic 1 -281234 Simple 267607486 A . Pathogenic/Likely pathogenic 2 2 Myofibrillar myopathy 1;not provided 2015-08-26 8.100000000000001 2.0 Likely pathogenic 1 -281240 Simple 147290429 A . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -281241 Simple 138183791 A . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-07-26 -0.5700000000000001 1.0 Uncertain significance 0 -281247 Simple 121434601 T . Likely benign 2 3 Chondrodysplasia;not specified;Metaphyseal chondrodysplasia 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -281249 Simple 183071230 C . Uncertain significance 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified 2016-06-14 -1.7999999999999998 1.0 Uncertain significance 0 -281259 Simple 201814201 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-02-11 -17.4 1.25 Benign/Likely benign 0 -281260 Simple 758279518 T . Likely pathogenic 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2016-01-13 18.900000000000002 2.0 Pathogenic 2 -281267 Simple 833819 T . Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -5.7 1.5 Likely benign 0 -281272 Simple 149278319 T . Benign/Likely benign 2 5 Limb-girdle muscular dystrophy, type 1E;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-27 -17.4 0.8 Benign/Likely benign 0 -281273 Simple 375543783 G . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -281278 Simple 151247098 G . Uncertain significance 2 2 not specified 2017-02-09 -0.5700000000000001 1.5 Uncertain significance 0 -281282 Simple 373341589 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-07 -11.7 0.6666666666666666 Benign/Likely benign 0 -281287 Simple 782531580 C . Uncertain significance 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-06 -0.87 0.6666666666666666 Uncertain significance 0 -281292 Simple 781572378 G . Uncertain significance 2 2 not specified 2017-07-05 -0.5700000000000001 1.0 Uncertain significance 0 -281306 Simple 34028822 A . Likely benign 2 6 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-11 -17.7 0.8333333333333334 Benign/Likely benign 1 -281307 Simple 34449017 G . Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-05 -8.7 1.0 Benign/Likely benign 1 -281308 Simple 139344099 A . Uncertain significance 2 4 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-11-24 -1.17 1.25 Uncertain significance 0 -281309 Simple 754384963 A . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281311 Simple 147194375 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-04-14 -17.7 1.0 Benign/Likely benign 0 -281317 Simple 186848953 T . Likely benign 2 4 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-20 -11.7 1.0 Benign/Likely benign 1 -281319 Simple 35937854 G . Benign 2 2 Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;not specified 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -281330 Simple 7215458 G . Likely benign 2 2 Glycogen storage disease, type II;not specified 2017-04-25 -5.7 1.0 Likely benign 0 -281331 Simple 1047883 T . Benign/Likely benign 2 3 Congenital hyperammonemia, type I;not specified 2016-06-14 -13.8 1.6666666666666667 Benign/Likely benign 0 -281333 Simple 147165298 G . Benign 2 2 Glycogen storage disease type III;not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -281334 Simple 376293687 C . Uncertain significance 2 2 Maple syrup urine disease;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281336 Simple 886044777 A . Pathogenic/Likely pathogenic 2 2 not provided 2017-01-12 8.4 1.5 Pathogenic/Likely pathogenic 0 -281357 Simple 150356488 C . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy, type 2A;not specified 2016-11-23 -14.4 1.3333333333333333 Benign/Likely benign 0 -281360 Simple 144944366 T . Likely benign 2 2 not specified 2016-05-06 -5.7 1.5 Likely benign 0 -281376 Simple 752699896 - . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-09-29 -8.7 1.5 Benign/Likely benign 0 -281379 Simple 191381310 A . Uncertain significance 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-07-28 -1.17 1.0 Uncertain significance 0 -281380 Simple 374283240 A . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281382 Simple 866815665 G . Uncertain significance 2 2 Rett syndrome, congenital variant;not specified 2017-08-14 -0.5700000000000001 1.0 Uncertain significance 0 -281384 Simple 886042145 T . Uncertain significance 2 3 not specified;not provided;Hereditary cancer-predisposing syndrome 2017-05-19 -0.87 1.0 Uncertain significance 0 -281391 Simple 369723574 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-09-20 -0.5700000000000001 1.5 Uncertain significance 0 -281415 Simple 148234280 T . Uncertain significance 2 5 not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2016-06-14 -1.47 1.2 Uncertain significance 0 -281417 Simple 540194528 A . Likely benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-06-14 -5.7 1.5 Likely benign 0 -281419 Simple 188353745 C . Benign/Likely benign 2 6 Spastic paraplegia 39;Mucolipidosis type IV;not specified;Spastic Paraplegia, Recessive 2017-07-25 -29.4 1.0 Benign 1 -281422 Simple 371601285 G . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2016-11-29 -0.5700000000000001 1.5 Uncertain significance 0 -281423 Simple 142063328 T . Uncertain significance 2 5 Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-04-18 -1.47 1.0 Uncertain significance 0 -281431 Simple 113568956 T . Likely benign 2 2 not specified 2016-11-07 -5.7 1.5 Likely benign 0 -281435 Simple 147822019 C . Likely benign 2 2 not specified;not provided 2017-03-10 -6.0 0.5 Likely benign 0 -281440 Simple 754889986 T . Uncertain significance 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -281442 Simple 758614807 A . Uncertain significance 2 2 EEM syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281461 Simple 374113959 T . Uncertain significance 2 2 Gamma-aminobutyric acid transaminase deficiency;not specified 2017-06-26 -0.5700000000000001 1.0 Uncertain significance 0 -281471 Simple 202224167 C . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2017-03-23 -0.5700000000000001 1.0 Uncertain significance 0 -281473 Simple 754808908 A . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281478 Simple 202209668 A . Uncertain significance 2 3 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-05-26 -0.87 1.0 Uncertain significance 0 -281481 Simple 200895343 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-23 -11.7 0.6666666666666666 Benign/Likely benign 0 -281484 Simple 142657029 G . Uncertain significance 2 3 Weaver syndrome;not specified;Sotos Syndrome 2016-09-13 -0.8999999999999999 1.0 Uncertain significance 0 -281485 Simple 775430225 A . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-05-18 -0.5700000000000001 1.0 Uncertain significance 0 -281487 Simple 181399181 T . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2016-10-05 -8.7 1.5 Benign/Likely benign 0 -281493 Simple 192659833 A . Benign/Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -281495 Simple 56048121 A . Benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -281502 Simple 191645384 C . Benign/Likely benign 2 4 Dystonia 12;not specified;Alternating hemiplegia of childhood 2017-08-10 -17.4 1.0 Benign/Likely benign 0 -281503 Simple 545201760 A . Benign 2 3 Dystonia 10;not specified 2017-06-13 -16.8 1.3333333333333333 Benign/Likely benign 1 -281504 Simple 199657839 A . Likely benign 2 2 not specified;not provided 2017-02-22 -5.7 1.5 Likely benign 0 -281521 Simple 151086692 A . Likely benign 2 2 not specified;not provided 2017-08-24 -5.7 1.0 Likely benign 0 -281538 Simple 139309563 A . Benign/Likely benign 2 2 not specified 2016-11-18 -8.4 1.5 Benign/Likely benign 0 -281544 Simple 199832333 A . Uncertain significance 2 2 not specified 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -281547 Simple 17058435 C . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -281548 Simple 79530106 T . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -281550 Simple 79023327 T . Benign/Likely benign 2 2 Marles Greenberg Persaud syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -281564 Simple 371269045 A . Uncertain significance 2 2 not specified 2017-02-14 -0.5700000000000001 1.5 Uncertain significance 0 -281570 Simple 201655114 T . Benign 2 2 Chromosome 9q deletion syndrome;not specified 2017-06-20 -11.4 1.0 Benign/Likely benign 1 -281584 Simple 780919131 T . Uncertain significance 2 2 not specified 2017-05-11 -0.5700000000000001 1.0 Uncertain significance 0 -281585 Simple 1782360 C . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -281590 Simple 200202579 A . Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-25 -8.7 1.0 Benign/Likely benign 1 -281598 Simple 76138485 T . Benign/Likely benign 2 2 not specified 2016-03-31 -8.4 1.5 Benign/Likely benign 0 -281601 Simple 141035459 A . Uncertain significance 2 2 not specified 2016-03-31 -0.5700000000000001 1.5 Uncertain significance 0 -281614 Simple 114248590 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-07-14 -0.5700000000000001 1.0 Uncertain significance 0 -281617 Simple 767980190 T . Uncertain significance 2 2 not specified 2017-08-17 -0.5700000000000001 1.0 Uncertain significance 0 -281619 Simple 146904895 T . Benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-04-19 -17.4 1.0 Benign/Likely benign 1 -281626 Simple 760165634 - . Pathogenic 2 2 Bardet-Biedl syndrome 7;not provided 2016-11-10 11.4 1.5 Pathogenic/Likely pathogenic 1 -281629 Simple 759437305 - . Benign 2 2 not specified 2015-11-05 -10.8 2.0 Benign/Likely benign 1 -281632 Simple 149837553 G . Uncertain significance 2 3 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-07-19 -0.87 0.6666666666666666 Uncertain significance 0 -281647 Simple 144900514 C . Uncertain significance 2 2 not specified 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -281659 Simple 112530241 T . Likely benign 2 3 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-11-08 -8.7 0.6666666666666666 Benign/Likely benign 1 -281660 Simple 199818690 A . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281664 Simple 139139296 A . Uncertain significance 2 2 not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -281668 Simple 201419047 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-31 -11.7 0.6666666666666666 Benign/Likely benign 0 -281669 Simple 148538539 C . Benign 2 2 Inclusion body myopathy 3;not specified 2017-06-22 -11.4 1.0 Benign/Likely benign 1 -281671 Simple 199727372 A . Uncertain significance 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-08-08 -0.87 1.0 Uncertain significance 0 -281680 Simple 2270770 A . Benign 2 4 Hereditary sideroblastic anemia;Refractory anemia with ringed sideroblasts (clinical);not specified 2016-06-14 -22.8 1.5 Benign/Likely benign 1 -281683 Simple 143475751 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -281699 Simple 747052899 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-03 -0.5700000000000001 1.5 Uncertain significance 0 -281701 Simple 781946435 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-26 -0.5700000000000001 1.0 Uncertain significance 0 -281705 Simple 142215226 A . Uncertain significance 2 2 not specified;not provided 2016-08-31 -0.6 1.0 Uncertain significance 0 -281706 Simple 778444849 T . Uncertain significance 2 2 not specified 2016-02-29 -0.54 2.0 Uncertain significance 0 -281710 Simple 201690244 C . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281712 Simple 115550684 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-10-18 -14.4 0.6666666666666666 Benign/Likely benign 0 -281713 Simple 543230518 T . Benign/Likely benign 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-07-24 -14.100000000000001 1.3333333333333333 Benign/Likely benign 0 -281732 Simple 199767035 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281743 Simple 370053963 T . Uncertain significance 2 3 Nemaline myopathy 2;not specified 2017-06-20 -0.87 0.6666666666666666 Uncertain significance 0 -281749 Simple 200628272 C . Benign/Likely benign 2 3 Diamond-Blackfan anemia;not specified 2017-05-26 -11.7 1.0 Benign/Likely benign 0 -281750 Simple 190153982 A . Benign/Likely benign 2 2 not specified 2017-09-05 -8.4 1.0 Benign/Likely benign 0 -281751 Simple 61736894 T . Benign/Likely benign 2 3 Glycogen storage disease, type II;not specified 2017-09-05 -14.4 0.6666666666666666 Benign/Likely benign 0 -281756 Simple 140064577 C . Uncertain significance 2 2 Adenylosuccinate lyase deficiency;not specified 2017-05-27 -0.5700000000000001 1.0 Uncertain significance 0 -281768 Simple 35614606 G . Benign/Likely benign 2 2 not specified;Split-Hand/Foot Malformation 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -281781 Simple 35809725 T . Benign/Likely benign 2 2 not specified 2017-05-25 -8.4 1.0 Benign/Likely benign 0 -281783 Simple 142747430 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2016-11-26 -0.5700000000000001 1.5 Uncertain significance 0 -281785 Simple 768508076 T . Uncertain significance 2 2 not specified 2016-12-13 -0.5700000000000001 1.5 Uncertain significance 0 -281787 Simple 760917372 C . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-05 -2.37 1.0 Uncertain significance 0 -281790 Simple 141488398 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-28 -11.7 1.0 Benign/Likely benign 0 -281810 Simple 28510278 T . Benign 2 3 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -281812 Simple 28414606 G . Benign 2 3 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -281820 Simple 113332380 G . Uncertain significance 2 3 Collagen VI-related myopathy;not specified 2017-07-20 -0.87 1.0 Uncertain significance 0 -281824 Simple 139126909 A . Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -281831 Simple 886042241 G . Uncertain significance 2 2 not specified 2017-01-19 -0.5700000000000001 1.5 Uncertain significance 0 -281838 Simple 758527900 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-20 -8.7 1.0 Benign/Likely benign 0 -281839 Simple 886042245 TT . Pathogenic/Likely pathogenic 2 2 Fukuyama congenital muscular dystrophy;Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 2016-04-08 8.4 1.5 Pathogenic/Likely pathogenic 0 -281844 Simple 372624638 A . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-04-26 -0.5700000000000001 1.0 Uncertain significance 0 -281848 Simple 780353083 T . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-04-26 -0.5700000000000001 1.0 Uncertain significance 0 -281888 Simple 45496700 TT . Benign/Likely benign 2 2 not specified 2017-10-09 -8.4 1.0 Benign/Likely benign 0 -281891 Simple 35737219 A . Benign 2 3 Homocysteinemia due to MTHFR deficiency;not specified 2017-06-21 -17.4 0.6666666666666666 Benign/Likely benign 1 -281900 Simple 375045076 T . Uncertain significance 2 4 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified;not provided 2017-01-31 -1.17 1.25 Uncertain significance 0 -281902 Simple 200744314 T . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, procollagen proteinase deficient;Osteogenesis imperfecta type I;not specified;Osteogenesis Imperfecta, Dominant 2017-07-19 -23.4 1.0 Benign/Likely benign 0 -281909 Simple 149555498 A . Uncertain significance 2 2 Mitochondrial complex III deficiency;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281913 Simple 754282387 A . Likely benign 2 2 not specified 2016-11-04 -5.7 1.5 Likely benign 0 -281915 Simple 144863210 C . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -11.7 0.6666666666666666 Benign/Likely benign 0 -281929 Simple 79275181 G . Uncertain significance 2 2 von Willebrand disorder;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -281933 Simple 886044783 A . Uncertain significance 2 2 not specified 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -281939 Simple 886042268 C . Pathogenic 2 3 Niemann-Pick disease type C1;not provided 2016-11-18 16.8 1.6666666666666667 Pathogenic 0 -281941 Simple 886042270 - . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease type C1 2015-11-24 8.100000000000001 2.0 Likely pathogenic 1 -281947 Simple 147168661 C . Likely benign 2 2 Limb-girdle muscular dystrophy, type 1E;not specified 2016-10-03 -5.7 1.5 Likely benign 0 -281951 Simple 72648936 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-03 -0.5700000000000001 1.0 Uncertain significance 0 -281960 Simple 369025108 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -281972 Simple 367566671 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-02 -0.5700000000000001 1.0 Uncertain significance 0 -281973 Simple 769706539 A . Uncertain significance 2 2 not specified 2017-01-24 -0.5700000000000001 1.5 Uncertain significance 0 -281980 Simple 759725715 A . Uncertain significance 2 2 not specified 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -281987 Simple 150755807 A . Uncertain significance 2 2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -281990 Simple 4252301 C . Benign 2 2 Inflammatory bowel disease 28, autosomal recessive;not specified 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -281991 Simple 774270631 G . Uncertain significance 2 2 not specified 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -281996 Simple 201188114 T . Benign/Likely benign 2 2 Interleukin 2 receptor, alpha, deficiency of;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -282001 Simple 138173151 C . Benign 2 2 not specified;Common variable immunodeficiency 8, with autoimmunity 2017-06-29 -11.4 1.0 Benign/Likely benign 1 -282010 Simple 142902034 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-05-30 -11.7 1.0 Benign/Likely benign 0 -282016 Simple 886042286 - . Pathogenic 2 3 Osteogenesis imperfecta, recessive perinatal lethal;Osteogenesis imperfecta type I 2016-10-03 16.8 1.6666666666666667 Pathogenic 0 -282018 Simple 143948870 A . Benign/Likely benign 2 2 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;not specified 2017-04-25 -8.7 1.0 Benign/Likely benign 0 -282019 Simple 749194310 A . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-18 -2.37 1.0 Uncertain significance 0 -282034 Simple 150890296 G . Uncertain significance 2 2 Sitosterolemia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282051 Simple 113937803 A . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-11 -14.4 1.3333333333333333 Benign/Likely benign 0 -282054 Simple 886042298 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-05-18 -0.5700000000000001 1.0 Uncertain significance 0 -282055 Simple 60808129 A . Benign/Likely benign 2 4 not specified;Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive;Hypohidrotic Ectodermal Dysplasia, Recessive 2017-08-01 -19.8 1.25 Benign/Likely benign 0 -282061 Simple 146793660 A . Benign/Likely benign 2 3 not specified;Osteopetrosis;Paget disease of bone 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -282068 Simple 143886167 G . Uncertain significance 2 3 Hypoparathyroidism retardation dysmorphism syndrome;not specified;not provided 2016-11-21 -0.87 1.3333333333333333 Uncertain significance 0 -282075 Simple 779961986 T . Uncertain significance 2 2 not specified 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -282077 Simple 773510302 A . Uncertain significance 2 2 not specified 2016-12-23 -0.5700000000000001 1.5 Uncertain significance 0 -282078 Simple 199899548 A . Uncertain significance 2 2 not specified 2016-11-04 -0.5700000000000001 1.5 Uncertain significance 0 -282089 Simple 140827311 A . Benign/Likely benign 2 3 Townes-Brocks syndrome 1;not specified;not provided 2017-05-04 -14.4 1.0 Benign/Likely benign 0 -282093 Simple 2250889 C . Benign 2 2 Metaphyseal anadysplasia;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -282096 Simple 371818894 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-26 -0.5700000000000001 1.0 Uncertain significance 0 -282097 Simple 201218437 T . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-02-16 -8.7 1.5 Benign/Likely benign 0 -282098 Simple 113113366 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-02-16 -8.7 1.5 Benign/Likely benign 0 -282100 Simple 370541277 G . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-04-17 -0.5700000000000001 1.0 Uncertain significance 0 -282101 Simple 143686889 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-07-24 -11.7 1.0 Benign/Likely benign 0 -282105 Simple 375500620 G . Uncertain significance 2 2 not specified 2016-08-17 -0.5700000000000001 1.5 Uncertain significance 0 -282107 Simple 8010699 T . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-04-17 -0.5700000000000001 1.0 Uncertain significance 0 -282111 Simple 7842714 A . Benign/Likely benign 2 2 not specified 2016-06-07 -8.4 1.5 Benign/Likely benign 0 -282116 Simple 201525908 A . Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-10-06 -11.7 0.75 Benign/Likely benign 1 -282118 Simple 186427714 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-06-19 -8.7 1.0 Benign/Likely benign 0 -282121 Simple 116214830 A . Uncertain significance 2 3 Limb-girdle muscular dystrophy, type 2E;not specified 2017-07-19 -0.87 0.6666666666666666 Uncertain significance 0 -282125 Simple 747305463 - . Likely benign 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2016-10-01 -5.7 1.5 Likely benign 0 -282133 Simple 199866902 T . Benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-12-15 -11.4 1.5 Benign/Likely benign 1 -282136 Simple 878898668 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-11 -0.5700000000000001 1.5 Uncertain significance 0 -282138 Simple 146615896 A . Benign/Likely benign 2 3 Glycogen storage disease, type II;not specified 2017-06-23 -14.4 0.6666666666666666 Benign/Likely benign 0 -282144 Simple 146892520 C . Uncertain significance 2 2 not specified 2017-01-30 -0.5700000000000001 1.5 Uncertain significance 0 -282151 Simple 200513558 C . Uncertain significance 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-06-16 -0.5700000000000001 1.0 Uncertain significance 0 -282154 Simple 140381407 C . Uncertain significance 2 2 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -282161 Simple 202108204 T . Uncertain significance 2 2 not specified 2017-01-19 -0.6 1.0 Uncertain significance 0 -282164 Simple 115279465 T . Benign/Likely benign 2 3 Dysferlinopathy;not specified 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -282173 Simple 149914792 A . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;not provided 2016-10-27 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -282174 Simple 886042331 A . Pathogenic/Likely pathogenic 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2017-02-28 22.200000000000003 1.8571428571428572 Pathogenic 1 -282175 Simple 368277535 A . Uncertain significance 2 2 not specified 2017-10-31 -0.5700000000000001 1.0 Uncertain significance 0 -282183 Simple 777354703 A . Uncertain significance 2 3 Bethlem myopathy 1;not specified 2017-06-23 -0.87 0.6666666666666666 Uncertain significance 0 -282185 Simple 202037264 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-25 -0.5700000000000001 1.0 Uncertain significance 0 -282189 Simple 150955173 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-05 -11.4 1.0 Benign/Likely benign 0 -282195 Simple 769072338 A . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282200 Simple 886042339 T . Uncertain significance 2 2 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-01-05 -0.5700000000000001 1.5 Uncertain significance 0 -282205 Simple 187173455 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-03-21 -11.7 1.0 Benign/Likely benign 0 -282206 Simple 199761238 C . Uncertain significance 2 3 not specified 2017-08-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -282213 Simple 149290823 T . Uncertain significance 2 2 not specified;Holoprosencephaly 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282236 Simple 187773880 C . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-11 -20.4 1.0 Benign/Likely benign 0 -282239 Simple 750444649 A . Uncertain significance 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -282241 Simple 147281213 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-07-01 -0.5700000000000001 1.0 Uncertain significance 0 -282243 Simple 200163818 T . Benign/Likely benign 2 2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-03-30 -9.0 0.5 Benign/Likely benign 0 -282244 Simple 189061273 A . Likely benign 2 2 not specified 2016-12-12 -5.7 1.5 Likely benign 0 -282246 Simple 140135976 A . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-31 -20.4 0.8 Benign/Likely benign 0 -282248 Simple 752492870 C . Uncertain significance 2 3 Limb-girdle muscular dystrophy, type 2E;Beta-sarcoglycanopathy;not specified 2017-03-10 -0.87 1.0 Uncertain significance 0 -282249 Simple 762412447 A . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2E;not specified 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -282251 Simple 886042357 - . Pathogenic 2 2 Retinoblastoma 2017-06-20 11.4 1.0 Pathogenic/Likely pathogenic 1 -282265 Simple 147653673 A . Uncertain significance 2 2 not specified;not provided 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -282266 Simple 143917509 A . Uncertain significance 2 2 Hypoparathyroidism retardation dysmorphism syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282270 Simple 367662560 G . Benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-07-18 -11.4 1.5 Benign/Likely benign 1 -282277 Simple 202240664 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;not specified 2016-09-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -282285 Simple 534537112 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-03 -0.5700000000000001 1.0 Uncertain significance 0 -282287 Simple 201070741 T . Benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-23 -17.4 1.0 Benign/Likely benign 1 -282298 Simple 201753549 T . Benign/Likely benign 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-06-07 -18.0 0.8 Benign/Likely benign 0 -282308 Simple 368122904 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-12-30 -0.5700000000000001 1.5 Uncertain significance 0 -282315 Simple 886042378 T . Uncertain significance 2 2 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2016-10-08 -0.6 1.0 Uncertain significance 0 -282316 Simple 886042379 - . Pathogenic 2 3 Miyoshi muscular dystrophy 1;Dysferlinopathy 2016-10-08 16.8 1.6666666666666667 Pathogenic 0 -282318 Simple 755866233 A . Uncertain significance 2 2 not specified 2016-11-14 -0.5700000000000001 1.5 Uncertain significance 0 -282323 Simple 374862218 T . Uncertain significance 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-08-24 -0.87 1.0 Uncertain significance 0 -282337 Simple 146456454 G . Uncertain significance 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282345 Simple 78861628 A . Benign/Likely benign 2 3 Hypogonadism with anosmia;not specified 2016-06-14 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -282353 Simple 150071733 T . Uncertain significance 2 2 Nephronophthisis;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282362 Simple 139201641 T . Benign/Likely benign 2 3 Glycogen storage disease, type II;not specified 2017-06-05 -11.7 1.0 Benign/Likely benign 0 -282363 Simple 779720018 A . Uncertain significance 2 2 Dilated cardiomyopathy 1O;not specified 2017-05-30 -0.5700000000000001 1.0 Uncertain significance 0 -282366 Simple 782007408 T . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-02-09 -9.0 1.0 Benign/Likely benign 0 -282372 Simple 145125791 A . Benign/Likely benign 2 2 not specified 2016-09-30 -8.4 1.5 Benign/Likely benign 0 -282376 Simple 535621809 T . Benign/Likely benign 2 4 Acrocallosal syndrome, Schinzel type;not specified 2017-06-30 -20.4 1.0 Benign/Likely benign 0 -282378 Simple 78115331 T . Benign 2 3 Ulnar-mammary syndrome;not specified 2017-05-16 -17.4 1.0 Benign/Likely benign 1 -282386 Simple 199804623 A . Uncertain significance 2 6 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-06-06 -1.77 0.8333333333333334 Uncertain significance 0 -282409 Simple 192061494 T . Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -282411 Simple 868791726 T . Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2017-07-29 8.4 1.3333333333333333 Pathogenic/Likely pathogenic 1 -282416 Simple 747161494 A . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -282429 Simple 371645048 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -282451 Simple 145524909 T . Uncertain significance 2 2 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -282455 Simple 201657125 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -282456 Simple 138407813 C . Uncertain significance 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-09-26 -0.87 0.6666666666666666 Uncertain significance 0 -282459 Simple 139089832 C . Uncertain significance 2 2 not specified 2016-10-21 -0.5700000000000001 1.5 Uncertain significance 0 -282466 Simple 201782280 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -282477 Simple 149391344 C . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-23 -14.4 1.0 Benign/Likely benign 0 -282487 Simple 1800266 G . Benign/Likely benign 2 3 Duchenne muscular dystrophy;not specified 2017-08-11 -14.4 1.0 Benign/Likely benign 0 -282493 Simple 782026068 T . Uncertain significance 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-02-10 -0.87 1.3333333333333333 Uncertain significance 0 -282494 Simple 369552114 A . Pathogenic/Likely pathogenic 2 4 Limb-girdle muscular dystrophy, type 2A;not provided 2016-11-02 19.200000000000003 1.75 Pathogenic 1 -282496 Simple 140903276 C . Likely benign 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-07-24 -8.7 1.0 Benign/Likely benign 1 -282497 Simple 34994927 A . Likely benign 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-07-24 -8.7 1.0 Benign/Likely benign 1 -282503 Simple 778938887 T . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 3B 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282511 Simple 145252144 G . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2D;not specified 2017-06-29 -0.5700000000000001 1.0 Uncertain significance 0 -282514 Simple 200437377 A . Uncertain significance 2 4 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2016-11-24 -1.17 1.25 Uncertain significance 0 -282526 Simple 368064647 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-05-02 -0.5700000000000001 1.0 Uncertain significance 0 -282533 Simple 121912935 T . Pathogenic 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2017-09-06 22.8 1.0 Pathogenic 0 -282543 Simple 768906709 C . Uncertain significance 2 2 not specified 2016-08-02 -0.5700000000000001 1.5 Uncertain significance 0 -282544 Simple 886042419 A . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -282545 Simple 775053902 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -282562 Simple 143606483 T . Uncertain significance 2 2 not specified 2017-01-27 -0.5700000000000001 1.5 Uncertain significance 0 -282566 Simple 371307947 T . Uncertain significance 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282568 Simple 186739900 C . Uncertain significance 2 2 not specified;Immunodeficiency with Hyper-IgM 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282570 Simple 759003992 C . Uncertain significance 2 2 Cholestanol storage disease;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282574 Simple 200978744 A . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282577 Simple 778306754 A . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -282579 Simple 139899756 T . Uncertain significance 2 2 not specified;not provided 2016-11-17 -0.5700000000000001 1.5 Uncertain significance 0 -282608 Simple 368234054 - . Benign/Likely benign 2 2 Primary hypomagnesemia;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -282615 Simple 779979272 T . Uncertain significance 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -282619 Simple 199704293 A . Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -282621 Simple 150464227 A . Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -282624 Simple 148860301 A . Uncertain significance 2 2 not specified 2017-02-16 -0.5700000000000001 1.5 Uncertain significance 0 -282630 Simple 149434536 A . Benign 2 2 Limb-girdle muscular dystrophy, type 1F;not specified 2017-07-24 -11.4 1.0 Benign/Likely benign 1 -282633 Simple 2304846 A . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282638 Simple 368820294 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-14 -0.5700000000000001 1.0 Uncertain significance 0 -282653 Simple 539735520 A . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-06 -11.4 1.0 Benign/Likely benign 1 -282664 Simple 138689053 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -282667 Simple 878916429 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -282678 Simple 886042453 T . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.5700000000000001 1.5 Uncertain significance 0 -282684 Simple 76474184 A . Benign/Likely benign 2 2 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -282696 Simple 138139105 T . Uncertain significance 2 2 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282697 Simple 116089237 A . Benign/Likely benign 2 3 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not specified 2017-04-28 -14.4 1.0 Benign/Likely benign 0 -282698 Simple 139590550 A . Likely benign 2 6 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-05-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -282707 Simple 764262721 A . Uncertain significance 2 2 not specified 2016-06-23 -0.5700000000000001 1.5 Uncertain significance 0 -282708 Simple 748076659 A . Uncertain significance 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -282710 Simple 151319255 C . Uncertain significance 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-06-14 -1.77 1.1666666666666667 Uncertain significance 0 -282722 Simple 145195048 T . Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-26 -11.7 1.0 Benign/Likely benign 1 -282724 Simple 373617951 T . Uncertain significance 2 2 not specified;not provided 2016-07-31 -0.5700000000000001 1.5 Uncertain significance 0 -282726 Simple 753208767 T . Uncertain significance 2 2 not specified;RYR1-Related Disorders 2016-11-24 -0.5700000000000001 1.5 Uncertain significance 0 -282732 Simple 16010 T . Benign/Likely benign 2 3 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-05-19 -14.4 0.6666666666666666 Benign/Likely benign 0 -282738 Simple 751028726 A . Uncertain significance 2 2 Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome 2017-03-01 -0.5700000000000001 1.5 Uncertain significance 0 -282741 Simple 367841700 G . Uncertain significance 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified;CC2D2A-Related Disorders 2016-06-14 -1.17 1.25 Uncertain significance 0 -282746 Simple 747488431 C . Uncertain significance 2 5 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-10-04 -1.47 1.2 Uncertain significance 0 -282759 Simple 113614842 GCCGCT . Uncertain significance 2 2 not specified 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -282765 Simple 34061568 C . Uncertain significance 2 4 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-04 -1.17 1.0 Uncertain significance 0 -282766 Simple 748914604 CC . Pathogenic/Likely pathogenic 2 2 Aicardi Goutieres syndrome 1;not provided 2017-06-30 8.4 1.0 Pathogenic/Likely pathogenic 0 -282774 Simple 148038440 T . Uncertain significance 2 2 not specified 2017-05-26 -0.5700000000000001 1.0 Uncertain significance 0 -282780 Simple 868906137 T . Uncertain significance 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-19 -0.87 0.6666666666666666 Uncertain significance 0 -282781 Simple 375573910 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-26 -0.5700000000000001 1.0 Uncertain significance 0 -282783 Simple 886042478 T . Pathogenic 2 4 Limb-girdle muscular dystrophy, type 2A;not provided 2017-04-04 24.0 0.75 Pathogenic 0 -282786 Simple 200866883 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-16 -0.5700000000000001 1.0 Uncertain significance 0 -282794 Simple 373296447 C . Uncertain significance 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -282795 Simple 142357063 T . Uncertain significance 2 2 not specified;SALL4-Related Spectrum Disorders 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282797 Simple 746904839 A . Uncertain significance 2 2 not specified 2016-10-13 -0.5700000000000001 1.5 Uncertain significance 0 -282809 Simple 374167385 A . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282829 Simple 201361648 T . Uncertain significance 2 2 not specified 2017-09-05 -0.5700000000000001 1.0 Uncertain significance 0 -282839 Simple 144748043 T . Uncertain significance 2 2 not specified 2017-08-18 -0.5700000000000001 1.0 Uncertain significance 0 -282852 Simple 146572907 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-27 -0.5700000000000001 1.0 Uncertain significance 0 -282856 Simple 886042500 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-27 -0.5700000000000001 1.0 Uncertain significance 0 -282860 Simple 886042503 - . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 2E;not provided 2017-06-16 11.4 1.0 Pathogenic/Likely pathogenic 1 -282862 Simple 199933395 A . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2016-10-12 -0.5700000000000001 1.5 Uncertain significance 0 -282867 Simple 752483058 T . Uncertain significance 2 5 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-12 -1.47 0.8 Uncertain significance 0 -282872 Simple 148582250 T . Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2016-09-12 -8.7 1.3333333333333333 Benign/Likely benign 1 -282877 Simple 200812806 T . Uncertain significance 2 5 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-10-12 -1.47 1.0 Uncertain significance 0 -282893 Simple 139077054 A . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2016-10-12 -0.5700000000000001 1.5 Uncertain significance 0 -282910 Simple 76668544 A . Uncertain significance 2 6 Multiple epiphyseal dysplasia 4;Diastrophic dysplasia;Achondrogenesis;Osteochondrodysplasia;not specified;Atelosteogenesis 2016-06-14 -1.77 1.1666666666666667 Uncertain significance 0 -282914 Simple 115883756 A . Benign/Likely benign 2 2 Epidermolysis bullosa, junctional;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -282915 Simple 886042519 - . Pathogenic/Likely pathogenic 2 2 Wilson disease 2016-02-12 8.100000000000001 2.0 Likely pathogenic 1 -282928 Simple 139425622 A . Uncertain significance 2 4 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2017-06-10 -1.17 0.75 Uncertain significance 0 -282930 Simple 147563740 A . Likely benign 2 2 not specified 2017-08-02 -5.7 1.0 Likely benign 0 -282944 Simple 753664726 G . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -282946 Simple 372292129 T . Uncertain significance 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified;CC2D2A-Related Disorders 2016-06-14 -1.17 1.25 Uncertain significance 0 -282947 Simple 11230683 A . Benign/Likely benign 2 3 Joubert syndrome;not specified;not provided 2017-07-24 -14.4 0.6666666666666666 Benign/Likely benign 0 -282957 Simple 149082597 C . Uncertain significance 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;not specified;Myasthenic syndrome, congenital, 17 2017-08-04 -0.5700000000000001 1.0 Uncertain significance 0 -282969 Simple 149509552 T . Benign 2 3 not specified;Neurodegeneration with brain iron accumulation 5 2017-08-22 -16.8 1.3333333333333333 Benign/Likely benign 1 -282975 Simple 9878928 C . Benign/Likely benign 2 4 Septo-optic dysplasia sequence;Growth hormone deficiency with pituitary anomalies;not specified;Combined Pituitary Hormone Deficiency, Dominant/Recessive 2017-06-13 -17.4 1.0 Benign/Likely benign 0 -282977 Simple 770617208 T . Pathogenic/Likely pathogenic 2 2 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy 2016-10-05 8.4 1.5 Pathogenic/Likely pathogenic 0 -282982 Simple 374767754 G . Uncertain significance 2 3 not specified;not provided 2016-11-14 -0.87 1.3333333333333333 Uncertain significance 0 -282997 Simple 181264712 G . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-07-05 -20.4 1.0 Benign/Likely benign 0 -283001 Simple 117901891 A . Benign 2 2 C-like syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -283026 Simple 115786671 C . Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-02-10 -11.7 1.25 Benign/Likely benign 1 -283028 Simple 375141729 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -0.5700000000000001 1.0 Uncertain significance 0 -283038 Simple 764641619 A . Uncertain significance 2 4 not specified;Walker-Warburg congenital muscular dystrophy 2017-10-26 -1.17 1.0 Uncertain significance 0 -283044 Simple 147889360 G . Uncertain significance 2 2 Epidermolysis bullosa, junctional;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283061 Simple 368227332 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283062 Simple 377173620 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283068 Simple 753234741 A . Likely benign 2 2 not specified 2016-12-13 -5.7 1.5 Likely benign 0 -283072 Simple 782412831 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-25 -8.7 1.0 Benign/Likely benign 0 -283073 Simple 372414400 A . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified 2017-04-28 -14.4 1.0 Benign/Likely benign 0 -283076 Simple 200480574 A . Uncertain significance 2 2 Pyknodysostosis;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283104 Simple 750320421 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-21 -0.5700000000000001 1.0 Uncertain significance 0 -283106 Simple 767741769 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-21 -0.5700000000000001 1.0 Uncertain significance 0 -283116 Simple 752243349 T . Uncertain significance 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -283122 Simple 142412708 T . Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -283138 Simple 201733876 T . Uncertain significance 2 4 Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-06-12 -1.17 1.0 Uncertain significance 0 -283140 Simple 150573158 C . Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -283142 Simple 142000273 G . Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -283147 Simple 539175862 A . Uncertain significance 2 2 not specified 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -283148 Simple 886042567 ACAGTCACAGTC . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -283152 Simple 143722436 T . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-01-19 -0.5700000000000001 1.5 Uncertain significance 0 -283154 Simple 148481786 G . Benign/Likely benign 2 2 not specified;not provided 2017-01-04 -8.4 1.5 Benign/Likely benign 0 -283167 Simple 762347655 T . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-06-21 -0.5700000000000001 1.0 Uncertain significance 0 -283168 Simple 753759904 T . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283186 Simple 188888939 A . Uncertain significance 2 2 not specified;Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283193 Simple 17029215 C . Benign/Likely benign 2 2 not specified;Abetalipoproteinemia 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283203 Simple 370016934 A . Uncertain significance 2 2 not specified 2016-12-07 -0.5700000000000001 1.5 Uncertain significance 0 -283206 Simple 758944159 A . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2B;DYSF-Related Disorders 2016-06-14 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -283219 Simple 200586324 A . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-05-22 -0.6 0.5 Uncertain significance 0 -283220 Simple 755539784 T . Uncertain significance 2 2 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified 2016-10-11 -0.5700000000000001 1.5 Uncertain significance 0 -283228 Simple 145007061 T . Uncertain significance 2 2 not specified 2016-09-23 -0.5700000000000001 1.5 Uncertain significance 0 -283230 Simple 142752477 T . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II 2016-09-13 8.4 1.5 Pathogenic/Likely pathogenic 0 -283241 Simple 782438887 T . Uncertain significance 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-12-07 -0.87 1.3333333333333333 Uncertain significance 0 -283248 Simple 199894361 A . Uncertain significance 2 3 not specified 2017-04-19 -0.87 1.0 Uncertain significance 0 -283254 Simple 782650176 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-12-25 -0.5700000000000001 1.5 Uncertain significance 0 -283259 Simple 768090444 T . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2016-05-23 16.8 1.6666666666666667 Pathogenic 0 -283264 Simple 146426896 T . Uncertain significance 2 2 not specified 2016-11-10 -0.5700000000000001 1.5 Uncertain significance 0 -283270 Simple 374946613 G . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -283278 Simple 199877522 A . Pathogenic/Likely pathogenic 2 4 Inclusion body myopathy 2;not provided 2016-10-14 20.1 1.5 Pathogenic 1 -283304 Simple 187338487 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-09-06 -11.4 0.6666666666666666 Benign/Likely benign 0 -283306 Simple 571328201 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-05 -0.5700000000000001 1.0 Uncertain significance 0 -283313 Simple 112266645 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-03-29 -14.7 1.0 Benign/Likely benign 0 -283314 Simple 138330966 C . Uncertain significance 2 3 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -283315 Simple 371763977 A . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2016-06-14 -11.7 1.3333333333333333 Benign/Likely benign 0 -283316 Simple 148759919 T . Uncertain significance 2 2 not specified 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -283320 Simple 72647861 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -283324 Simple 374751877 G . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283339 Simple 886042600 - . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-04-14 16.2 1.6666666666666667 Pathogenic 0 -283343 Simple 112513380 T . Likely benign 2 3 Craniometaphyseal dysplasia;not specified;Chondrocalcinosis 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -283346 Simple 886042604 T . Pathogenic 2 3 Becker muscular dystrophy;Duchenne muscular dystrophy 2017-07-31 16.8 1.3333333333333333 Pathogenic 0 -283351 Simple 886042606 G . Uncertain significance 2 2 Adenylosuccinate lyase deficiency;not specified 2016-08-24 -0.5700000000000001 1.5 Uncertain significance 0 -283359 Simple 149275902 G . Benign/Likely benign 2 2 not specified 2016-10-03 -8.4 1.5 Benign/Likely benign 0 -283386 Simple 199552115 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283389 Simple 767207001 C . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283393 Simple 145924910 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-05-26 -14.4 1.0 Benign/Likely benign 0 -283402 Simple 377540780 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-27 -0.5700000000000001 1.0 Uncertain significance 0 -283411 Simple 371320284 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-03-30 -14.4 1.0 Benign/Likely benign 0 -283420 Simple 138292762 T . Uncertain significance 2 2 Chromosome 9q deletion syndrome;not specified 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -283430 Simple 148114532 C . Uncertain significance 2 3 not specified;Cone-Rod Dystrophy, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -283436 Simple 371267140 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -283437 Simple 796478043 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-30 -0.6 1.0 Uncertain significance 0 -283443 Simple 371468515 C . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -283444 Simple 886042624 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -283451 Simple 886042627 T . Uncertain significance 2 3 not specified 2016-12-19 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -283456 Simple 777227521 T . Uncertain significance 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-03-08 -1.17 1.0 Uncertain significance 0 -283459 Simple 199879861 A . Uncertain significance 2 4 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-15 -1.17 1.0 Uncertain significance 0 -283464 Simple 575031901 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -8.7 1.0 Benign/Likely benign 0 -283473 Simple 572052810 T . Uncertain significance 2 4 Bardet-Biedl syndrome;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-11-04 -1.17 1.25 Uncertain significance 0 -283474 Simple 753861836 A . Pathogenic 2 5 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided 2017-07-21 27.6 1.6 Pathogenic 0 -283495 Simple 138034915 A . Benign/Likely benign 2 2 Glycogen storage disease, type II;not specified 2017-07-14 -8.7 1.0 Benign/Likely benign 0 -283496 Simple 574947353 A . Benign/Likely benign 2 2 Glycogen storage disease, type II;not specified 2017-07-14 -8.7 1.0 Benign/Likely benign 0 -283498 Simple 145712232 C . Benign/Likely benign 2 2 Glycogen storage disease, type II;not specified 2017-07-14 -8.7 1.0 Benign/Likely benign 0 -283506 Simple 16957250 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283510 Simple 374664760 T . Benign/Likely benign 2 3 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-10-12 -14.4 0.6666666666666666 Benign/Likely benign 0 -283521 Simple 137904249 T . Uncertain significance 2 2 not specified 2017-03-28 -0.5700000000000001 1.0 Uncertain significance 0 -283524 Simple 886042650 TT . Pathogenic 2 3 Nephronophthisis 1;Nephronophthisis 2016-10-13 17.4 1.3333333333333333 Pathogenic 0 -283526 Simple 140251634 T . Benign 2 2 not specified 2015-10-12 -10.8 2.0 Benign/Likely benign 1 -283529 Simple 56204478 G . Uncertain significance 2 2 Sitosterolemia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283532 Simple 747310967 C . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -283538 Simple 576967464 A . Benign/Likely benign 2 2 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified 2017-08-03 -8.7 1.0 Benign/Likely benign 0 -283541 Simple 146732392 T . Benign 2 3 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2017-08-03 -17.4 1.0 Benign/Likely benign 1 -283557 Simple 138667007 G . Benign/Likely benign 2 3 Cohen syndrome;not specified 2017-07-31 -14.4 1.0 Benign/Likely benign 0 -283567 Simple 41317893 A . Benign/Likely benign 2 2 not specified 2017-06-26 -8.4 1.0 Benign/Likely benign 0 -283572 Simple 144585562 G . Benign/Likely benign 2 3 Leber congenital amaurosis;not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -283580 Simple 181785233 T . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-05-30 -11.4 1.0 Benign/Likely benign 0 -283582 Simple 11568366 C . Likely benign 2 2 not specified 2016-11-25 -6.0 1.0 Likely benign 0 -283583 Simple 113923887 T . Likely benign 2 2 not specified 2016-11-25 -6.0 1.0 Likely benign 0 -283590 Simple 147259744 A . Benign/Likely benign 2 9 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-03-22 -32.4 1.0 Benign 1 -283602 Simple 573907581 C . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283606 Simple 41316657 T . Benign/Likely benign 2 7 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;not provided;Osteogenesis Imperfecta, Dominant 2017-06-14 -29.4 1.0 Benign 1 -283621 Simple 150946074 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-17 -14.4 1.0 Benign/Likely benign 0 -283622 Simple 886042664 - . Pathogenic 2 3 Fukuyama congenital muscular dystrophy;Limb-girdle muscular dystrophy-dystroglycanopathy, type C4;not provided 2017-01-30 16.8 1.6666666666666667 Pathogenic 0 -283623 Simple 369992659 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-22 -0.5700000000000001 1.5 Uncertain significance 0 -283631 Simple 368608059 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -283645 Simple 371763907 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-03-21 -0.6 0.5 Uncertain significance 0 -283660 Simple 773905874 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -283662 Simple 201927593 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-18 -11.7 0.6666666666666666 Benign/Likely benign 0 -283666 Simple 200424447 A . Uncertain significance 2 2 not specified 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -283682 Simple 115171119 T . Benign/Likely benign 2 3 Bethlem myopathy 1;not specified 2017-07-27 -11.4 0.6666666666666666 Benign/Likely benign 0 -283686 Simple 146705789 C . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -283687 Simple 199661077 T . Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-22 -8.4 1.3333333333333333 Benign/Likely benign 1 -283689 Simple 374384263 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -283702 Simple 150363140 G . Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2016-11-18 -8.7 1.3333333333333333 Benign/Likely benign 1 -283708 Simple 73619386 G . Benign/Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2016-06-11 -11.7 1.3333333333333333 Benign/Likely benign 0 -283714 Simple 764777213 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -283729 Simple 773691749 - . Uncertain significance 2 2 not specified;not provided 2016-11-30 -0.5700000000000001 1.5 Uncertain significance 0 -283733 Simple 61737992 T . Uncertain significance 2 2 Sjögren-Larsson syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283738 Simple 772971971 A . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -283739 Simple 200606803 A . Uncertain significance 2 2 Cranioectodermal dysplasia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283751 Simple 368678916 A . Uncertain significance 2 2 not specified 2016-08-30 -0.6 1.0 Uncertain significance 0 -283760 Simple 147034750 T . Benign 2 2 Facioscapulohumeral muscular dystrophy 2;not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -283763 Simple 782436596 A . Uncertain significance 2 2 not specified 2017-02-27 -0.5700000000000001 1.5 Uncertain significance 0 -283765 Simple 751676482 T . Uncertain significance 2 2 not specified 2017-04-03 -0.5700000000000001 1.0 Uncertain significance 0 -283773 Simple 61749943 A . Benign/Likely benign 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -283778 Simple 886042707 CC . Benign/Likely benign 2 2 Deficiency of acetyl-CoA acetyltransferase;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283779 Simple 61754477 A . Benign/Likely benign 2 3 Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia 2017-08-02 -14.4 1.0 Benign/Likely benign 0 -283780 Simple 878924060 A . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-05-09 -8.4 1.0 Benign/Likely benign 0 -283782 Simple 9550956 T . Benign/Likely benign 2 3 Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia 2017-08-02 -14.4 1.0 Benign/Likely benign 0 -283788 Simple 138675705 C . Uncertain significance 2 2 not specified 2016-11-02 -0.5700000000000001 1.5 Uncertain significance 0 -283789 Simple 149289227 T . Benign/Likely benign 2 2 not specified 2015-12-11 -8.100000000000001 2.0 Likely benign 1 -283801 Simple 114400765 T . Uncertain significance 2 3 Cryptophthalmos syndrome;not specified 2017-01-12 -0.87 1.3333333333333333 Uncertain significance 0 -283803 Simple 192259143 C . Uncertain significance 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified 2016-06-14 -1.77 1.1666666666666667 Uncertain significance 0 -283808 Simple 1869780 T . Benign/Likely benign 2 2 not specified 2016-08-12 -8.7 1.5 Benign/Likely benign 0 -283816 Simple 759452729 A . Uncertain significance 2 2 Dubin-Johnson syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283817 Simple 56307321 - . Benign/Likely benign 2 4 Newfoundland rod-cone dystrophy;not specified;Fundus albipunctatus;Retinitis Pigmentosa, Recessive 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -283819 Simple 373286939 A . Uncertain significance 2 3 Achromatopsia;not specified;Stargardt Disease, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -283840 Simple 200813566 C . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283842 Simple 80219951 A . Benign/Likely benign 2 2 not specified;Osteopetrosis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283843 Simple 116321057 T . Uncertain significance 2 2 Hajdu-Cheney syndrome;not specified 2017-05-16 -0.5700000000000001 1.0 Uncertain significance 0 -283848 Simple 562152407 T . Benign/Likely benign 2 2 not specified 2015-10-14 -8.100000000000001 2.0 Likely benign 1 -283849 Simple 377618961 A . Benign/Likely benign 2 2 not specified 2016-02-19 -8.100000000000001 2.0 Likely benign 1 -283850 Simple 569440839 A . Benign/Likely benign 2 2 not specified 2016-02-19 -8.100000000000001 2.0 Likely benign 1 -283851 Simple 147426569 T . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283852 Simple 138255184 C . Benign/Likely benign 2 2 Triphalangeal thumb polysyndactyly syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283862 Simple 78620392 A . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283865 Simple 28945071 C . Uncertain significance 2 2 not specified 2017-01-26 -0.5700000000000001 1.5 Uncertain significance 0 -283874 Simple 202187398 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-23 -0.5700000000000001 1.0 Uncertain significance 0 -283883 Simple 773588060 A . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -283891 Simple 35914491 T . Benign/Likely benign 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -283894 Simple 142967546 T . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -283897 Simple 746632559 A . Uncertain significance 2 3 Primary ciliary dyskinesia;not specified 2016-04-03 -0.87 1.3333333333333333 Uncertain significance 0 -283920 Simple 536108231 G . Benign 2 3 Townes-Brocks syndrome 1;not specified 2017-06-09 -17.4 1.0 Benign/Likely benign 1 -283923 Simple 553968087 A . Uncertain significance 2 3 Acrocallosal syndrome, Schinzel type;not specified 2017-06-20 -0.87 1.0 Uncertain significance 0 -283934 Simple 886042743 AC . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-04 -0.5700000000000001 1.0 Uncertain significance 0 -283945 Simple 886042747 A . Pathogenic 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-06-22 22.200000000000003 1.5 Pathogenic 0 -283947 Simple 782161008 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-01 -0.5700000000000001 1.0 Uncertain significance 0 -283956 Simple 769703842 AA . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2016-07-22 -0.5700000000000001 1.5 Uncertain significance 0 -283963 Simple 374778697 A . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -283965 Simple 140002194 A . Uncertain significance 2 2 not specified;not provided 2016-10-31 -0.5700000000000001 1.5 Uncertain significance 0 -283968 Simple 376065732 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-27 -9.0 0.5 Benign/Likely benign 0 -283977 Simple 35297901 A . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -283979 Simple 761223583 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-20 -0.5700000000000001 1.5 Uncertain significance 0 -283981 Simple 201176149 G . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-07-27 -0.87 1.0 Uncertain significance 0 -283986 Simple 72648922 C . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided 2017-07-26 -0.87 0.6666666666666666 Uncertain significance 0 -283991 Simple 777323132 T . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2017-02-27 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -284012 Simple 79816263 A . Benign/Likely benign 2 4 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II;not specified 2017-07-24 -17.4 1.0 Benign/Likely benign 0 -284018 Simple 201842512 T . Uncertain significance 2 2 not specified;Spastic Paraplegia, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -284019 Simple 368616652 A . Uncertain significance 2 2 not specified 2016-07-05 -0.5700000000000001 1.5 Uncertain significance 0 -284025 Simple 147996726 T . Benign 2 2 Acrocallosal syndrome, Schinzel type;not specified 2017-05-08 -11.4 1.0 Benign/Likely benign 1 -284031 Simple 141141950 A . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -284034 Simple 2305253 C . Benign/Likely benign 2 2 not specified;Oculocutaneous albinism 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -284040 Simple 141859450 T . Uncertain significance 2 2 not specified;Osteopetrosis 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -284058 Simple 146512619 T . Benign/Likely benign 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2016-10-31 -8.7 1.5 Benign/Likely benign 0 -284059 Simple 377510422 T . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2017-04-27 -0.5700000000000001 1.0 Uncertain significance 0 -284070 Simple 56132765 A . Benign/Likely benign 2 2 Sitosterolemia;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -284071 Simple 111433950 T . Benign 2 2 not specified 2016-06-24 -11.4 1.5 Benign/Likely benign 1 -284076 Simple 140584234 T . Benign/Likely benign 2 3 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-07-10 -11.7 0.6666666666666666 Benign/Likely benign 0 -284081 Simple 377164652 C . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -284082 Simple 141737082 T . Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -284090 Simple 202039679 A . Uncertain significance 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284092 Simple 778290450 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -284093 Simple 766074609 C . Pathogenic 2 2 Glycogen storage disease, type II 2016-05-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -284097 Simple 763098227 - . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-27 -0.5700000000000001 1.0 Uncertain significance 0 -284122 Simple 886042797 TT . Pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;not provided 2017-06-08 16.8 1.3333333333333333 Pathogenic 0 -284142 Simple 571641824 T . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2016-08-31 -0.6 1.0 Uncertain significance 0 -284146 Simple 61738825 T . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -284147 Simple 886042805 T . Pathogenic 2 1 Multiple gastrointestinal atresias 2015-10-13 . 2.0 . 0 -284148 Simple 886042806 CC . Pathogenic 2 2 Multiple gastrointestinal atresias 2015-10-13 10.8 2.0 Pathogenic/Likely pathogenic 1 -284166 Simple 142249570 G . Benign/Likely benign 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -284185 Simple 759713590 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -284186 Simple 866956348 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-13 -0.5700000000000001 1.0 Uncertain significance 0 -284192 Simple 151296605 A . Benign 2 2 Mucopolysaccharidosis, MPS-IV-A;not specified 2017-07-18 -11.4 1.0 Benign/Likely benign 1 -284211 Simple 146000214 C . Uncertain significance 2 3 Dyggve-Melchior-Clausen syndrome;not specified;Smith-McCort dysplasia 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284212 Simple 144815611 T . Benign/Likely benign 2 2 Dermatofibrosis lenticularis disseminata;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -284219 Simple 116302604 A . Benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-04-27 -11.4 1.0 Benign/Likely benign 1 -284221 Simple 113335442 A . Benign 2 3 Spastic paraplegia 39;not specified 2017-06-28 -17.4 0.6666666666666666 Benign/Likely benign 1 -284223 Simple 113264142 T . Benign/Likely benign 2 3 Spastic paraplegia 39;not specified 2017-04-17 -14.4 0.6666666666666666 Benign/Likely benign 0 -284236 Simple 143705642 A . Likely benign 2 2 not specified 2016-12-14 -5.7 1.5 Likely benign 0 -284248 Simple 368280705 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-02-06 -0.6 1.0 Uncertain significance 0 -284249 Simple 781813266 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-02-06 -0.6 1.0 Uncertain significance 0 -284250 Simple 374876608 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-14 -0.6 0.5 Uncertain significance 0 -284256 Simple 774458684 A . Uncertain significance 2 2 not specified 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -284274 Simple 10594016 - . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -284281 Simple 147402839 A . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-02-16 -21.0 1.0 Benign/Likely benign 0 -284286 Simple 886042838 - . Pathogenic 2 2 Aniridia 1;Irido-corneo-trabecular dysgenesis 2017-05-24 11.4 1.0 Pathogenic/Likely pathogenic 1 -284291 Simple 144670883 C . Uncertain significance 2 2 Werner syndrome;not specified 2017-07-06 -0.5700000000000001 1.0 Uncertain significance 0 -284294 Simple 201422612 A . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.07 1.1428571428571428 Uncertain significance 0 -284304 Simple 201091341 A . Uncertain significance 2 3 not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284307 Simple 199937246 T . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -284327 Simple 148733464 T . Uncertain significance 2 2 not specified 2017-06-26 -0.5700000000000001 1.0 Uncertain significance 0 -284343 Simple 41529445 T . Uncertain significance 2 2 not specified 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -284345 Simple 201384469 A . Uncertain significance 2 2 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -284351 Simple 202242499 T . Benign/Likely benign 2 5 Spondyloepiphyseal dysplasia with congenital joint dislocations;Skeletal dysplasia;Larsen syndrome;not specified;Spondyloepiphyseal dysplasia 2016-06-14 -17.4 1.2 Benign/Likely benign 0 -284352 Simple 139249497 A . Benign/Likely benign 2 2 Three M syndrome;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -284368 Simple 369899077 A . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284369 Simple 4236 C . Benign 2 2 Keutel syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -284375 Simple 150773110 T . Likely benign 2 2 not specified 2016-11-01 -5.7 1.5 Likely benign 0 -284377 Simple 140954748 A . Uncertain significance 2 4 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2017-05-05 -1.17 1.0 Uncertain significance 0 -284387 Simple 199512865 A . Benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-07-18 -11.4 1.5 Benign/Likely benign 1 -284389 Simple 75817012 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-09-23 -17.4 1.25 Benign/Likely benign 0 -284393 Simple 368928190 G . Pathogenic/Likely pathogenic 2 2 not provided;Epileptic encephalopathy, early infantile, 28 2016-01-08 8.100000000000001 2.0 Likely pathogenic 1 -284399 Simple 189175284 A . Uncertain significance 2 2 Cutis laxa, recessive;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -284402 Simple 141353229 T . Likely benign 2 2 not specified;not provided 2017-05-01 -5.7 1.0 Likely benign 0 -284405 Simple 142680641 T . Uncertain significance 2 3 not specified 2017-06-20 -0.87 0.6666666666666666 Uncertain significance 0 -284409 Simple 74328058 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -284415 Simple 182064878 C . Uncertain significance 2 5 Laminin alpha 2-related dystrophy;not specified;not provided;Congenital Muscular Dystrophy, LAMA2-related 2017-03-22 -1.47 1.0 Uncertain significance 0 -284416 Simple 146025848 T . Uncertain significance 2 3 Lethal arthrogryposis with anterior horn cell disease;not specified;Lethal Congenital Contracture Syndrome 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284422 Simple 139944375 A . Uncertain significance 2 2 Joubert syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -284428 Simple 186657949 C . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284453 Simple 72466581 A . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-01-31 -0.5700000000000001 1.5 Uncertain significance 0 -284459 Simple 763930147 A . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284466 Simple 375693396 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -284476 Simple 748327110 C . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -284482 Simple 769377092 A . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2016-11-18 -0.6 1.0 Uncertain significance 0 -284487 Simple 149357145 T . Uncertain significance 2 2 not specified;not provided 2017-01-31 -0.5700000000000001 1.5 Uncertain significance 0 -284493 Simple 886042885 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-05-10 -0.5700000000000001 1.5 Uncertain significance 0 -284495 Simple 148561729 T . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -284497 Simple 200294882 G . Benign/Likely benign 2 3 Glycogen storage disease, type II;not specified 2017-06-07 -14.4 1.0 Benign/Likely benign 0 -284498 Simple 3734366 A . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-31 -23.4 1.0 Benign/Likely benign 0 -284502 Simple 752492870 A . Pathogenic/Likely pathogenic 2 2 Limb-girdle muscular dystrophy, type 2E;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 8.4 1.5 Pathogenic/Likely pathogenic 0 -284513 Simple 145445372 T . Benign 2 2 Myopathy with postural muscle atrophy, X-linked;not specified 2017-07-14 -11.4 1.0 Benign/Likely benign 1 -284528 Simple 144820445 T . Uncertain significance 2 2 not specified 2017-03-06 -0.5700000000000001 1.0 Uncertain significance 0 -284535 Simple 146124454 C . Benign/Likely benign 2 3 Osteogenesis imperfecta type 7;not specified;Osteogenesis Imperfecta, Recessive 2017-05-25 -14.4 1.0 Benign/Likely benign 0 -284536 Simple 145677050 T . Benign/Likely benign 2 2 not specified 2016-11-07 -8.4 1.5 Benign/Likely benign 0 -284542 Simple 753168976 T . Uncertain significance 2 3 Succinate-semialdehyde dehydrogenase deficiency;not specified 2017-07-06 -0.87 1.0 Uncertain significance 0 -284559 Simple 561417561 G . Uncertain significance 2 2 not specified 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -284574 Simple 749550071 A . Uncertain significance 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-28 -1.17 1.0 Uncertain significance 0 -284575 Simple 202185399 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-21 -12.0 0.3333333333333333 Benign/Likely benign 0 -284580 Simple 200049922 A . Uncertain significance 2 5 Dysferlinopathy;not specified;not provided;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-27 -1.47 1.2 Uncertain significance 0 -284582 Simple 372986812 A . Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -5.7 1.0 Likely benign 0 -284583 Simple 201848957 T . Benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-02 -11.4 1.0 Benign/Likely benign 1 -284586 Simple 763348222 T . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -284592 Simple 560303559 A . Benign/Likely benign 2 3 Dystonia 10;not specified 2017-06-14 -11.4 0.6666666666666666 Benign/Likely benign 0 -284596 Simple 200661931 T . Benign 2 2 Succinate-semialdehyde dehydrogenase deficiency;not specified 2017-05-17 -11.4 1.0 Benign/Likely benign 1 -284598 Simple 373228579 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-12-21 -0.6 1.0 Uncertain significance 0 -284616 Simple 116467702 G . Benign/Likely benign 2 6 Symphalangism-brachydactyly syndrome;Fibular hypoplasia and complex brachydactyly;Brachydactyly;Chondrodysplasia;not specified;Acromesomelic Dysplasia 2016-06-14 -20.4 1.1666666666666667 Benign/Likely benign 0 -284621 Simple 534091900 - . Benign/Likely benign 2 2 not specified;not provided 2017-01-09 -8.4 1.5 Benign/Likely benign 0 -284622 Simple 200635842 A . Uncertain significance 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-02-09 -1.17 1.25 Uncertain significance 0 -284625 Simple 76275412 T . Likely benign 2 2 Townes-Brocks syndrome 1;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -284630 Simple 199996504 T . Uncertain significance 2 2 not specified 2016-09-27 -0.5700000000000001 1.5 Uncertain significance 0 -284636 Simple 141828689 T . Uncertain significance 2 2 not specified 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -284652 Simple 115090201 C . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-03-09 -17.4 1.0 Benign/Likely benign 0 -284654 Simple 72547284 T . Benign 2 2 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative;not specified 2017-08-17 -11.4 1.0 Benign/Likely benign 1 -284657 Simple 202176764 G . Uncertain significance 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284658 Simple 138667252 A . Uncertain significance 2 2 not specified 2017-01-09 -0.5700000000000001 1.5 Uncertain significance 0 -284684 Simple 148210365 A . Uncertain significance 2 2 not specified 2017-08-28 -0.5700000000000001 1.0 Uncertain significance 0 -284688 Simple 4870093 T . Benign/Likely benign 2 6 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified;not provided 2017-07-12 -26.4 1.0 Benign 1 -284708 Simple 138945081 T . Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2D;not provided 2017-10-02 8.4 1.3333333333333333 Pathogenic/Likely pathogenic 1 -284736 Simple 114254215 T . Benign/Likely benign 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-11-08 -23.4 1.2 Benign/Likely benign 0 -284737 Simple 201196733 A . Pathogenic/Likely pathogenic 2 4 Bardet-Biedl syndrome;Bardet-Biedl syndrome 2;not provided 2017-06-27 17.4 1.0 Pathogenic 1 -284745 Simple 201033114 T . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -284751 Simple 149700024 T . Uncertain significance 2 3 Cutis laxa, recessive;not specified 2017-08-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -284764 Simple 200305176 T . Uncertain significance 2 2 not specified 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -284765 Simple 149838438 G . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-06-05 -0.6 0.5 Uncertain significance 0 -284767 Simple 200209279 A . Uncertain significance 2 2 not specified 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -284783 Simple 762091599 A . Uncertain significance 2 4 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-26 -1.17 1.0 Uncertain significance 0 -284785 Simple 148556501 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -284790 Simple 75857070 T . Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-06 -9.0 0.6666666666666666 Benign/Likely benign 1 -284797 Simple 749356221 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-22 -0.5700000000000001 1.0 Uncertain significance 0 -284810 Simple 886042953 G . Uncertain significance 2 2 not specified 2016-11-22 -0.5700000000000001 1.5 Uncertain significance 0 -284811 Simple 756300560 C . Uncertain significance 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-08-11 -0.87 0.6666666666666666 Uncertain significance 0 -284821 Simple 201439705 T . Uncertain significance 2 3 Beta-sarcoglycanopathy;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-06 -0.8999999999999999 1.0 Uncertain significance 0 -284826 Simple 762867111 G . Uncertain significance 2 2 not specified 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -284831 Simple 113169531 T . Benign/Likely benign 2 2 not specified 2017-06-02 -8.4 1.0 Benign/Likely benign 0 -284832 Simple 114242799 C . Benign 2 3 Facioscapulohumeral muscular dystrophy 2;not specified 2017-06-28 -17.4 1.0 Benign/Likely benign 1 -284835 Simple 148439285 T . Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-25 -8.7 1.0 Benign/Likely benign 1 -284837 Simple 115390288 T . Benign 2 2 Dysferlinopathy;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -284838 Simple 61736461 T . Benign 2 2 Inclusion body myopathy 3;not specified 2017-05-26 -11.4 1.0 Benign/Likely benign 1 -284842 Simple 116401889 A . Benign/Likely benign 2 2 Idiopathic basal ganglia calcification 1;not specified;Basal ganglia calcification, idiopathic, 3 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -284843 Simple 139838884 G . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-28 -0.8999999999999999 1.0 Uncertain significance 0 -284844 Simple 147286334 T . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-28 -0.8999999999999999 1.0 Uncertain significance 0 -284845 Simple 143109401 T . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-28 -0.8999999999999999 1.0 Uncertain significance 0 -284854 Simple 1805138 C . Benign/Likely benign 2 3 Arterial calcification of infancy;not specified;Hypophosphatemic Rickets, Recessive 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -284887 Simple 539653012 - . Benign 2 2 Limb-girdle muscular dystrophy, type 1F;not specified 2017-06-27 -11.4 1.0 Benign/Likely benign 1 -284894 Simple 202211640 T . Uncertain significance 2 2 not specified 2017-06-16 -0.5700000000000001 1.0 Uncertain significance 0 -284904 Simple 144689354 A . Likely pathogenic 2 2 not provided;Tatton-Brown-rahman syndrome 2016-10-07 6.0 1.0 Likely pathogenic 0 -284906 Simple 750188782 . . Pathogenic 2 2 Deafness, autosomal recessive 1A 2017-05-09 11.4 1.0 Pathogenic/Likely pathogenic 1 -284940 Simple 146933218 C . Uncertain significance 2 3 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284948 Simple 886042993 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2016-12-25 -0.5700000000000001 1.5 Uncertain significance 0 -284958 Simple 141140798 T . Uncertain significance 2 2 not specified 2017-01-05 -0.5700000000000001 1.5 Uncertain significance 0 -284960 Simple 75902820 T . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -284964 Simple 886042995 A . Uncertain significance 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-30 -0.87 1.0 Uncertain significance 0 -284969 Simple 139798419 A . Uncertain significance 2 2 not specified 2017-07-14 -0.5700000000000001 1.0 Uncertain significance 0 -284978 Simple 759570455 T . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-05-04 -0.5700000000000001 1.0 Uncertain significance 0 -284986 Simple 368468 A . Likely benign 2 3 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified 2017-06-09 -8.7 0.6666666666666666 Benign/Likely benign 1 -284988 Simple 145042175 C . Uncertain significance 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -284999 Simple 372565083 A . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285002 Simple 149729088 C . Benign/Likely benign 2 2 Zellweger syndrome;not specified 2017-07-14 -8.7 1.0 Benign/Likely benign 0 -285006 Simple 3821805 T . Benign 2 2 Michels syndrome;not specified 2017-05-10 -11.4 1.0 Benign/Likely benign 1 -285009 Simple 746538672 A . Uncertain significance 2 2 not specified 2017-05-31 -0.5700000000000001 1.0 Uncertain significance 0 -285012 Simple 367952803 A . Uncertain significance 2 2 not specified 2017-09-21 -0.5700000000000001 1.0 Uncertain significance 0 -285018 Simple 200213555 G . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-05-13 -8.7 1.0 Benign/Likely benign 0 -285020 Simple 143669310 T . Benign 2 2 Chromosome 9q deletion syndrome;not specified 2017-05-30 -11.4 1.0 Benign/Likely benign 1 -285022 Simple 138927668 A . Benign/Likely benign 2 3 Symmetrical dyschromatosis of extremities;not specified;Aicardi-goutieres syndrome 6 2017-07-12 -11.7 1.0 Benign/Likely benign 0 -285030 Simple 141706561 T . Uncertain significance 2 3 not specified;not provided;Cone-Rod Dystrophy, Recessive 2016-07-31 -0.87 1.3333333333333333 Uncertain significance 0 -285031 Simple 375294678 A . Uncertain significance 2 3 Microphthalmia, isolated 6;not specified;VSX2-related Microphthalmia 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285042 Simple 12445417 G . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -17.4 1.3333333333333333 Benign/Likely benign 1 -285044 Simple 148938083 T . Uncertain significance 2 3 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285045 Simple 772962160 - . Pathogenic 2 2 Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2017-07-07 11.4 1.0 Pathogenic/Likely pathogenic 1 -285046 Simple 200099217 T . Uncertain significance 2 2 not specified;Monogenic diabetes 2015-12-16 -0.54 2.0 Uncertain significance 0 -285052 Simple 200880341 C . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-12-27 -14.4 1.25 Benign/Likely benign 0 -285054 Simple 148404730 T . Uncertain significance 2 3 Severe autosomal recessive muscular dystrophy of childhood - North African type;not specified;not provided 2017-04-30 -0.87 0.6666666666666666 Uncertain significance 0 -285060 Simple 199842980 A . Uncertain significance 2 2 not specified 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -285072 Simple 886043013 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-03-26 -0.5700000000000001 1.0 Uncertain significance 0 -285077 Simple 886043015 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -285079 Simple 151050583 T . Uncertain significance 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -285080 Simple 886043016 T . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285084 Simple 3731879 A . Benign/Likely benign 2 2 Brachydactyly;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -285086 Simple 3796360 A . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -285087 Simple 112197239 G . Likely benign 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -285092 Simple 145114073 A . Benign/Likely benign 2 2 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified 2017-07-19 -8.7 1.0 Benign/Likely benign 0 -285096 Simple 145419117 A . Benign 2 2 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-05-26 -11.4 1.0 Benign/Likely benign 1 -285099 Simple 116721144 C . Likely benign 2 2 not specified 2016-09-26 -6.0 1.0 Likely benign 0 -285101 Simple 373729655 T . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2016-11-18 -0.5700000000000001 1.5 Uncertain significance 0 -285102 Simple 748863960 A . Benign 2 2 not specified 2016-09-26 -11.4 1.5 Benign/Likely benign 1 -285103 Simple 759350875 A . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-04-21 -0.5700000000000001 1.0 Uncertain significance 0 -285121 Simple 140111079 T . Uncertain significance 2 2 not specified 2017-07-11 -0.5700000000000001 1.0 Uncertain significance 0 -285123 Simple 148858485 G . Uncertain significance 2 3 Dysferlinopathy;not specified 2017-03-20 -0.87 1.0 Uncertain significance 0 -285130 Simple 200191311 A . Uncertain significance 2 3 Severe autosomal recessive muscular dystrophy of childhood - North African type;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285137 Simple 373181368 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -285138 Simple 138857720 A . Uncertain significance 2 4 Limb-girdle muscular dystrophy, type 2A;not specified;not provided;Limb-Girdle Muscular Dystrophy, Recessive 2016-12-31 -1.17 1.25 Uncertain significance 0 -285142 Simple 138628147 T . Benign 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-05-03 -11.4 1.0 Benign/Likely benign 1 -285148 Simple 200970855 A . Uncertain significance 2 2 Dysferlinopathy;not specified 2017-07-21 -0.5700000000000001 1.0 Uncertain significance 0 -285149 Simple 202212586 C . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2016-08-15 -14.4 1.3333333333333333 Benign/Likely benign 0 -285159 Simple 766512164 A . Uncertain significance 2 2 not specified 2018-01-16 -0.5700000000000001 1.0 Uncertain significance 0 -285186 Simple 138528119 G . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-09-25 -14.4 1.0 Benign/Likely benign 0 -285193 Simple 148029276 A . Uncertain significance 2 5 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided;Myosclerosis 2017-02-28 -1.47 1.2 Uncertain significance 0 -285205 Simple 199504211 C . Uncertain significance 2 2 not specified 2017-10-02 -0.5700000000000001 1.0 Uncertain significance 0 -285234 Simple 201525710 G . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified 2017-06-06 -0.5700000000000001 1.0 Uncertain significance 0 -285236 Simple 188913729 T . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -285239 Simple 372215246 T . Uncertain significance 2 5 Infantile cortical hyperostosis;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2016-06-14 -1.44 1.4 Uncertain significance 0 -285240 Simple 3737311 A . Uncertain significance 2 2 Familial dysautonomia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285241 Simple 61754478 T . Uncertain significance 2 2 not specified 2016-12-07 -0.5700000000000001 1.5 Uncertain significance 0 -285244 Simple 139823161 G . Uncertain significance 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285245 Simple 147351244 A . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285287 Simple 61758751 G . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2b;not specified;Charcot-Marie-Tooth, Type 2 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -285288 Simple 144590904 C . Uncertain significance 2 2 not specified;Abetalipoproteinemia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285297 Simple 751325537 A . Benign/Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-04-26 -14.4 1.0 Benign/Likely benign 0 -285298 Simple 139790539 A . Benign/Likely benign 2 5 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-04-26 -23.4 1.0 Benign/Likely benign 0 -285304 Simple 148935596 T . Uncertain significance 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-05-05 -1.17 1.0 Uncertain significance 0 -285305 Simple 150899645 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-07-10 -0.5700000000000001 1.0 Uncertain significance 0 -285306 Simple 140031589 C . Benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-10 -17.4 1.0 Benign/Likely benign 1 -285328 Simple 147667464 G . Uncertain significance 2 2 not specified 2017-01-16 -0.5700000000000001 1.5 Uncertain significance 0 -285330 Simple 140709222 T . Uncertain significance 2 2 not specified 2017-09-22 -0.5700000000000001 1.0 Uncertain significance 0 -285335 Simple 374376301 C . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-05-31 -17.4 1.0 Benign/Likely benign 0 -285336 Simple 556328818 T . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-13 -9.0 0.5 Benign/Likely benign 0 -285339 Simple 886043081 G . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 3B 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285342 Simple 375095764 A . Uncertain significance 2 2 not specified 2017-04-19 -0.6 0.5 Uncertain significance 0 -285344 Simple 145903608 T . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -285356 Simple 150139276 C . Uncertain significance 2 3 Dysferlinopathy;not specified 2017-06-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -285363 Simple 13969 C . Benign 2 2 Metaphyseal anadysplasia;not specified 2016-06-28 -12.0 1.0 Benign/Likely benign 1 -285365 Simple 139679692 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-04-27 -0.5700000000000001 1.0 Uncertain significance 0 -285372 Simple 113190032 C . Benign/Likely benign 2 3 Inclusion body myopathy 3;not specified;Inclusion Body Myopathy, Dominant 2017-03-24 -14.4 1.0 Benign/Likely benign 0 -285374 Simple 200585150 T . Uncertain significance 2 2 not specified 2016-08-29 -0.5700000000000001 1.5 Uncertain significance 0 -285379 Simple 542967227 A . Pathogenic/Likely pathogenic 2 2 Hereditary factor XI deficiency disease 2015-12-22 7.5 3.0 Likely pathogenic 1 -285384 Simple 778792339 C . Uncertain significance 2 2 not specified 2016-12-01 -0.5700000000000001 1.5 Uncertain significance 0 -285388 Simple 559668426 C . Uncertain significance 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285399 Simple 147596900 T . Uncertain significance 2 3 Pendred's syndrome;not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285404 Simple 761913744 T . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -1.17 1.25 Uncertain significance 0 -285415 Simple 886043098 - . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease, type A 2016-10-27 9.0 1.0 Pathogenic/Likely pathogenic 0 -285422 Simple 149897344 G . Uncertain significance 2 3 Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285426 Simple 150246404 G . Uncertain significance 2 3 Lethal arthrogryposis with anterior horn cell disease;not specified;Lethal Congenital Contracture Syndrome 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285438 Simple 771344560 C . Benign 3 4 not specified;Rasopathy 2017-04-18 -10.17 1.0 Benign/Likely benign 1 -285443 Simple 111557381 C . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-18 -14.4 1.3333333333333333 Benign/Likely benign 0 -285444 Simple 9938800 A . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -17.4 1.3333333333333333 Benign/Likely benign 1 -285445 Simple 7197071 G . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -17.4 1.3333333333333333 Benign/Likely benign 1 -285454 Simple 141424852 G . Benign/Likely benign 2 6 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-03-17 -26.4 1.0 Benign 1 -285464 Simple 115297652 T . Benign/Likely benign 2 2 Collagen VI-related myopathy;not specified 2016-07-12 -9.0 1.0 Benign/Likely benign 0 -285469 Simple 151244310 G . Uncertain significance 2 2 not specified 2017-09-12 -0.5700000000000001 1.0 Uncertain significance 0 -285470 Simple 777483913 T . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2017-04-18 11.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -285472 Simple 150700669 C . Uncertain significance 2 3 not specified 2017-03-20 -0.87 1.0 Uncertain significance 0 -285474 Simple 199888040 A . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285477 Simple 886043113 A . Pathogenic 2 2 Ullrich congenital muscular dystrophy 1;not provided 2016-12-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -285481 Simple 2270668 C . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-20 -14.4 1.0 Benign/Likely benign 0 -285482 Simple 886043114 - . Pathogenic 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2015-12-31 16.200000000000003 2.0 Pathogenic 0 -285493 Simple 886043118 - . Pathogenic 2 2 Mycobacterial and viral infections, susceptibility to, autosomal recessive 2015-12-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -285521 Simple 374546580 C . Uncertain significance 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-08-01 -0.5700000000000001 1.0 Uncertain significance 0 -285523 Simple 201599657 A . Pathogenic 2 3 Primary autosomal recessive microcephaly 1;not provided 2017-05-01 17.4 0.6666666666666666 Pathogenic 0 -285526 Simple 16043 G . Benign 2 2 not specified 2016-12-09 -11.4 1.5 Benign/Likely benign 1 -285529 Simple 138959557 C . Benign 2 2 Cardiac arrhythmia;not specified 2017-01-18 -11.4 1.5 Benign/Likely benign 1 -285535 Simple 370546734 G . Benign/Likely benign 2 2 not specified 2017-02-14 -8.4 1.5 Benign/Likely benign 0 -285552 Simple 144048656 A . Benign/Likely benign 2 2 not specified 2016-09-26 -8.4 1.5 Benign/Likely benign 0 -285559 Simple 11574911 C . Benign 2 3 not specified;Adams-Oliver syndrome 5 2017-07-25 -17.4 1.0 Benign/Likely benign 1 -285567 Simple 76625876 T . Benign/Likely benign 2 2 not specified;Distal spinal muscular atrophy 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -285568 Simple 3138150 T . Benign/Likely benign 2 2 not specified;Distal spinal muscular atrophy 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -285576 Simple 199704873 A . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2017-07-10 -0.5700000000000001 1.0 Uncertain significance 0 -285580 Simple 749863676 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2A;not specified 2016-11-08 -0.5700000000000001 1.5 Uncertain significance 0 -285584 Simple 886043145 G . Pathogenic 2 3 Miyoshi muscular dystrophy 1;Dysferlinopathy 2017-06-19 16.8 1.3333333333333333 Pathogenic 0 -285591 Simple 138264334 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-26 -14.7 1.0 Benign/Likely benign 0 -285614 Simple 12742444 T . Benign/Likely benign 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -285627 Simple 369709751 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-22 -0.6 1.0 Uncertain significance 0 -285642 Simple 36215251 G . Benign/Likely benign 2 2 not specified 2016-12-15 -8.4 1.5 Benign/Likely benign 0 -285643 Simple 181551438 T . Uncertain significance 2 2 not specified 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -285669 Simple 886043172 - . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 2L;not provided 2017-11-06 11.4 1.0 Pathogenic/Likely pathogenic 1 -285705 Simple 150179494 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-07-24 -18.0 0.75 Benign/Likely benign 0 -285715 Simple 377156960 G . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 3B 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285721 Simple 747184649 T . Uncertain significance 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285741 Simple 149768871 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285748 Simple 886042883 T . Pathogenic/Likely pathogenic 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2017-12-12 14.4 1.0 Pathogenic/Likely pathogenic 0 -285753 Simple 11200938 T . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -285754 Simple 2279227 C . Benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -285755 Simple 2229482 T . Benign 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -285761 Simple 748365248 T . Pathogenic/Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease 2016-02-05 8.100000000000001 2.0 Likely pathogenic 1 -285768 Simple 143693526 A . Uncertain significance 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285778 Simple 7139272 A . Benign 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -285779 Simple 7138938 G . Benign 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -285783 Simple 4646832 C . Benign/Likely benign 2 2 Succinate-semialdehyde dehydrogenase deficiency;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -285796 Simple 150863675 A . Uncertain significance 2 2 Hereditary sensory neuropathy type IE;not specified 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -285801 Simple 377355204 T . Uncertain significance 2 2 Hereditary sensory neuropathy type IE;not specified 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -285810 Simple 528369978 A . Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-05-15 -8.7 1.0 Benign/Likely benign 1 -285812 Simple 199498900 A . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-03-09 -0.5700000000000001 1.0 Uncertain significance 0 -285813 Simple 185119682 T . Uncertain significance 2 2 Dysferlinopathy;not specified 2016-10-05 -0.5700000000000001 1.5 Uncertain significance 0 -285821 Simple 147327209 T . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285822 Simple 146687581 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285824 Simple 886043224 A . Uncertain significance 2 2 not specified 2017-01-23 -0.5700000000000001 1.5 Uncertain significance 0 -285827 Simple 200250810 C . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2016-09-02 -0.5700000000000001 1.5 Uncertain significance 0 -285828 Simple 147173048 T . Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -285833 Simple 147820869 A . Uncertain significance 2 5 Severe autosomal recessive muscular dystrophy of childhood - North African type;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-01 -1.47 1.0 Uncertain significance 0 -285847 Simple 147370143 G . Uncertain significance 2 3 Methylmalonic acidemia;Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -285857 Simple 768360593 A . Uncertain significance 2 7 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-04-14 -2.07 1.0 Uncertain significance 0 -285859 Simple 201556985 G . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285872 Simple 142169776 T . Uncertain significance 2 2 not specified 2016-07-01 -0.5700000000000001 1.5 Uncertain significance 0 -285888 Simple 41287112 T . Likely benign 2 2 not specified;not provided 2017-06-02 -5.7 1.0 Likely benign 0 -285914 Simple 61744410 G . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -285921 Simple 886043251 T . Pathogenic 2 2 Duchenne muscular dystrophy;not provided 2018-01-16 11.4 1.0 Pathogenic/Likely pathogenic 1 -285931 Simple 138019537 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2D;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -285936 Simple 745517517 A . Pathogenic 2 2 Inclusion body myopathy 2 2017-07-11 11.4 1.0 Pathogenic/Likely pathogenic 1 -285942 Simple 281865480 AA . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 2L 2017-07-12 11.4 1.0 Pathogenic/Likely pathogenic 1 -285944 Simple 191541575 T . Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -285945 Simple 886043264 CC . Likely benign 2 2 not specified 2016-04-21 -5.7 1.5 Likely benign 0 -285948 Simple 760915898 T . Pathogenic/Likely pathogenic 2 3 Joubert syndrome;Leber congenital amaurosis 10;Meckel-Gruber syndrome;Nephronophthisis;not provided 2017-06-07 11.4 1.0 Pathogenic/Likely pathogenic 0 -285961 Simple 138877636 C . Uncertain significance 2 3 not specified 2017-07-10 -0.87 1.0 Uncertain significance 0 -285979 Simple 145739725 T . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -285984 Simple 151021451 T . Uncertain significance 2 2 not specified 2017-09-07 -0.5700000000000001 1.0 Uncertain significance 0 -285986 Simple 151034170 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-27 -17.4 1.0 Benign/Likely benign 0 -285993 Simple 148412962 A . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-04-26 -0.5700000000000001 1.0 Uncertain significance 0 -285998 Simple 761653490 C . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -286001 Simple 770671793 T . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -286010 Simple 886043281 C . Uncertain significance 2 2 not specified 2017-05-23 -0.5700000000000001 1.0 Uncertain significance 0 -286018 Simple 200007324 C . Benign 2 2 Glycogen storage disease, type II;not specified 2017-06-06 -11.4 1.0 Benign/Likely benign 1 -286020 Simple 141796889 A . Benign 2 2 not specified 2016-12-27 -11.4 1.5 Benign/Likely benign 1 -286030 Simple 200508760 C . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -286035 Simple 886043286 G . Uncertain significance 2 2 not specified 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -286042 Simple 140986546 T . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -286049 Simple 372210292 A . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2D 2016-09-30 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -286058 Simple 766444850 G . Uncertain significance 2 2 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-01-10 -0.5700000000000001 1.5 Uncertain significance 0 -286064 Simple 143773937 A . Uncertain significance 2 3 Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2i;not specified 2017-05-08 -0.87 1.0 Uncertain significance 0 -286066 Simple 886043300 A . Pathogenic/Likely pathogenic 2 3 Cerebral cavernous malformation;not provided 2017-04-07 14.4 1.0 Pathogenic/Likely pathogenic 0 -286074 Simple 886043303 - . Pathogenic 2 2 Joubert syndrome 5;Blindness;Global developmental delay 2016-02-12 10.8 2.0 Pathogenic/Likely pathogenic 1 -286093 Simple 371994484 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -286099 Simple 202167521 T . Uncertain significance 2 2 Eichsfeld type congenital muscular dystrophy;not specified 2017-06-28 -0.5700000000000001 1.0 Uncertain significance 0 -286104 Simple 773539640 - . Pathogenic 2 2 Usher syndrome, type 2A;not provided 2016-02-17 10.8 2.0 Pathogenic/Likely pathogenic 1 -286108 Simple 150969538 A . Uncertain significance 2 2 not specified;Cone-Rod Dystrophy, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -286126 Simple 774508288 GG . Pathogenic 2 2 Hyperphosphatasia with mental retardation syndrome 2 2017-08-14 11.4 1.0 Pathogenic/Likely pathogenic 1 -286132 Simple 200771983 T . Uncertain significance 2 2 not specified;not provided 2017-06-30 -0.5700000000000001 1.0 Uncertain significance 0 -286134 Simple 2385007 C . Benign 2 2 not specified 2016-02-05 -10.8 2.0 Benign/Likely benign 1 -286137 Simple 2956109 T . Benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -286141 Simple 2229974 A . Benign 2 2 not specified 2016-09-22 -11.4 1.5 Benign/Likely benign 1 -286142 Simple 4489420 G . Benign 2 2 not specified 2016-02-05 -10.8 2.0 Benign/Likely benign 1 -286143 Simple 36119806 A . Benign 2 2 not specified 2016-09-27 -11.4 1.5 Benign/Likely benign 1 -286147 Simple 34058684 A . Uncertain significance 2 4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-26 -1.17 1.0 Uncertain significance 0 -286150 Simple 886043323 C . Pathogenic/Likely pathogenic 2 2 Bethlem myopathy 1 2017-03-15 8.7 1.0 Pathogenic/Likely pathogenic 0 -286153 Simple 527267621 A . Uncertain significance 2 2 not specified 2017-02-28 -0.5700000000000001 1.5 Uncertain significance 0 -286157 Simple 886043324 C . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2016-10-08 -0.5700000000000001 1.5 Uncertain significance 0 -286162 Simple 149393972 C . Benign/Likely benign 2 5 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-11-11 -20.4 1.2 Benign/Likely benign 0 -286166 Simple 879779013 T . Uncertain significance 2 2 not specified 2017-09-28 -0.5700000000000001 1.0 Uncertain significance 0 -286167 Simple 886043327 - . Pathogenic/Likely pathogenic 2 4 Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided 2017-06-30 19.200000000000003 1.5 Pathogenic 1 -286177 Simple 148652047 T . Uncertain significance 2 3 Dysferlinopathy;not specified 2017-07-25 -0.87 0.6666666666666666 Uncertain significance 0 -286180 Simple 2303641 A . Benign 2 2 not specified 2016-10-06 -11.4 1.5 Benign/Likely benign 1 -286181 Simple 11145767 C . Benign 2 2 not specified 2016-09-22 -11.4 1.5 Benign/Likely benign 1 -286203 Simple 755930521 C . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2A;not specified 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -286210 Simple 149968110 A . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-03-30 -0.5700000000000001 1.0 Uncertain significance 0 -286218 Simple 201607149 C . Uncertain significance 2 3 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -286246 Simple 144569618 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -286248 Simple 35933246 T . Benign/Likely benign 2 2 Sphingomyelin/cholesterol lipidosis;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -286258 Simple 373671419 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-03-09 -0.5700000000000001 1.0 Uncertain significance 0 -286270 Simple 150589796 C . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -286271 Simple 886043355 A . Uncertain significance 2 2 not specified 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -286283 Simple 145883811 A . Uncertain significance 2 2 not specified 2016-11-07 -0.6 1.0 Uncertain significance 0 -286286 Simple 140852238 T . Uncertain significance 2 2 not specified 2016-04-18 -0.5700000000000001 1.5 Uncertain significance 0 -286304 Simple 150060240 C . Uncertain significance 2 3 not specified;not provided 2017-07-10 -0.87 1.0 Uncertain significance 0 -286313 Simple 114256617 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-29 -8.7 1.0 Benign/Likely benign 0 -286319 Simple 778266118 A . Uncertain significance 2 2 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2016-11-26 -0.5700000000000001 1.5 Uncertain significance 0 -286327 Simple 35877704 A . Likely benign 2 6 X-linked agammaglobulinemia;not specified;not provided;Isolated Growth Hormone Deficiency 2017-08-16 -17.4 1.1666666666666667 Benign/Likely benign 1 -286329 Simple 567585097 - . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 -17.4 0.6666666666666666 Benign/Likely benign 1 -286333 Simple 148808529 C . Uncertain significance 2 2 not specified;Inflammatory bowel disease 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -286339 Simple 114735704 A . Likely benign 2 2 not specified 2016-05-25 -5.7 1.5 Likely benign 0 -286341 Simple 61737781 A . Benign/Likely benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-25 -14.4 0.6666666666666666 Benign/Likely benign 0 -286346 Simple 3818401 G . Benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -286347 Simple 1049306 T . Benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -286348 Simple 1049307 C . Benign 2 2 Pyruvate dehydrogenase complex deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -286349 Simple 41316667 A . Benign/Likely benign 2 6 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2017-05-23 -26.4 1.0 Benign 1 -286364 Simple 148764524 A . Benign/Likely benign 2 2 Biotinidase deficiency;not specified 2017-06-14 -8.7 1.0 Benign/Likely benign 0 -286391 Simple 2518608 A . Benign 2 2 Dihydropteridine reductase deficiency;not specified 2017-06-14 -11.4 1.0 Benign/Likely benign 1 -286392 Simple 146492790 T . Uncertain significance 2 2 not specified;Spastic paraplegia 43, autosomal recessive 2017-06-27 -0.5700000000000001 1.0 Uncertain significance 0 -286393 Simple 115993270 G . Benign/Likely benign 2 2 Idiopathic basal ganglia calcification 1;not specified;Basal ganglia calcification, idiopathic, 3 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -286394 Simple 150363383 G . Uncertain significance 2 2 Aicardi Goutieres syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286406 Simple 371107552 A . Uncertain significance 2 2 Cystic fibrosis;not specified 2017-07-07 -0.6 0.5 Uncertain significance 0 -286418 Simple 143611778 C . Likely benign 2 2 not specified 2016-08-05 -6.0 1.0 Likely benign 0 -286423 Simple 148841455 A . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286452 Simple 782299893 G . Uncertain significance 2 2 not specified 2017-01-03 -0.5700000000000001 1.5 Uncertain significance 0 -286456 Simple 373040273 A . Uncertain significance 2 2 not specified 2017-04-14 -0.5700000000000001 1.0 Uncertain significance 0 -286464 Simple 566004273 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -286465 Simple 760603443 T . Uncertain significance 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided 2016-09-09 -1.17 1.25 Uncertain significance 0 -286467 Simple 868484837 - . Pathogenic/Likely pathogenic 2 2 Limb-girdle muscular dystrophy, type 2L;not provided 2016-05-20 8.4 1.5 Pathogenic/Likely pathogenic 0 -286474 Simple 372056234 C . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -286484 Simple 377693754 G . Uncertain significance 2 2 Myopathy with postural muscle atrophy, X-linked;not specified 2017-03-30 -0.5700000000000001 1.0 Uncertain significance 0 -286496 Simple 372521943 G . Uncertain significance 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -286497 Simple 886043410 A . Pathogenic 2 2 Stickler syndrome type 1;not provided 2017-12-07 11.4 1.0 Pathogenic/Likely pathogenic 1 -286499 Simple 186541002 T . Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -5.7 1.5 Likely benign 0 -286502 Simple 139861062 A . Benign/Likely benign 2 2 not specified 2016-06-22 -9.0 1.0 Benign/Likely benign 0 -286504 Simple 370966667 A . Uncertain significance 2 7 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2017-01-03 -2.1 1.0 Uncertain significance 0 -286517 Simple 147958141 G . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2016-06-14 -0.6 1.0 Uncertain significance 0 -286522 Simple 368432468 G . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-12 -14.4 1.0 Benign/Likely benign 0 -286523 Simple 3813632 G . Benign 2 2 Pheochromocytoma;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -286525 Simple 2699503 G . Benign 2 2 not specified;Premature ovarian failure 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -286530 Simple 757877420 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286536 Simple 200531617 T . Uncertain significance 2 2 Joubert syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286545 Simple 146700420 A . Uncertain significance 2 2 not specified 2017-10-20 -0.6 0.5 Uncertain significance 0 -286546 Simple 34561092 A . Benign 2 2 Hajdu-Cheney syndrome;not specified 2017-05-05 -11.4 1.0 Benign/Likely benign 1 -286548 Simple 541660707 G . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -286550 Simple 140480823 A . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-11-02 -11.4 1.0 Benign/Likely benign 0 -286557 Simple 140710321 T . Likely benign 2 2 not specified;not provided 2017-04-28 -5.7 1.0 Likely benign 0 -286559 Simple 61749083 A . Benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;not specified;Myasthenic syndrome, congenital, 17 2017-08-08 -12.0 0.5 Benign/Likely benign 1 -286567 Simple 754048936 T . Uncertain significance 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -286579 Simple 759293889 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2016-06-25 -0.5700000000000001 1.5 Uncertain significance 0 -286586 Simple 369227827 C . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -286591 Simple 886043431 - . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A 2016-10-28 13.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -286594 Simple 3098423 T . Benign 2 3 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -286615 Simple 886043437 A . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2A;not specified 2017-03-02 -0.6 1.0 Uncertain significance 0 -286618 Simple 115325955 A . Benign 2 2 Hajdu-Cheney syndrome;not specified 2017-05-15 -12.0 0.5 Benign/Likely benign 1 -286632 Simple 34447581 C . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -286638 Simple 75860159 G . Benign/Likely benign 2 3 Deafness, autosomal dominant 1;not specified;Seizures, cortical blindness, and microcephaly syndrome;Nonsyndromic Hearing Loss, Mixed 2017-08-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -286650 Simple 143236410 T . Benign/Likely benign 2 2 Hajdu-Cheney syndrome;not specified 2017-05-12 -9.0 0.5 Benign/Likely benign 0 -286655 Simple 150645738 T . Uncertain significance 2 3 Muscle AMP deaminase deficiency;not specified 2016-08-31 -0.8999999999999999 1.0 Uncertain significance 0 -286657 Simple 3740129 A . Benign 2 5 Spondyloepiphyseal dysplasia with congenital joint dislocations;Skeletal dysplasia;Larsen syndrome;not specified;Spondyloepiphyseal dysplasia 2016-06-14 -29.4 1.2 Benign 0 -286663 Simple 199755508 A . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -286669 Simple 76707172 T . Benign/Likely benign 2 2 not specified 2016-08-15 -9.0 1.0 Benign/Likely benign 0 -286672 Simple 199605221 G . Uncertain significance 2 2 not specified 2017-01-20 -0.6 1.0 Uncertain significance 0 -286680 Simple 184236039 T . Likely benign 2 2 Joubert syndrome;not specified 2017-05-07 -6.0 0.5 Likely benign 0 -286691 Simple 371595464 T . Uncertain significance 2 2 not specified 2016-10-31 -0.6 1.0 Uncertain significance 0 -286711 Simple 770997582 A . Uncertain significance 2 2 not specified 2017-06-28 -0.6 0.5 Uncertain significance 0 -286736 Simple 377333036 A . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286738 Simple 151234321 C . Uncertain significance 2 2 Syndactyly Cenani Lenz type;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286740 Simple 886043467 T . Uncertain significance 2 2 not specified 2017-05-03 -0.6 0.5 Uncertain significance 0 -286747 Simple 145046338 A . Uncertain significance 2 3 Pendred's syndrome;not specified;Nonsyndromic Hearing Loss, Mixed 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -286752 Simple 113342704 G . Uncertain significance 2 4 not specified;not provided;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2017-04-11 -1.2 0.75 Uncertain significance 0 -286759 Simple 186620158 G . Uncertain significance 2 2 not specified 2017-08-14 -0.6 0.5 Uncertain significance 0 -286763 Simple 199536893 C . Uncertain significance 2 3 not specified;Nonsyndromic Hearing Loss, Recessive 2017-03-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -286765 Simple 139340468 G . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286776 Simple 144492145 A . Uncertain significance 2 2 not specified 2016-12-12 -0.6 1.0 Uncertain significance 0 -286781 Simple 45604240 T . Uncertain significance 2 2 not specified 2016-12-12 -0.6 1.0 Uncertain significance 0 -286787 Simple 112948044 A . Benign/Likely benign 2 2 Rubinstein-Taybi syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -286793 Simple 6756629 A . Benign/Likely benign 2 3 Sitosterolemia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -286804 Simple 199514707 G . Uncertain significance 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -0.6 1.0 Uncertain significance 0 -286805 Simple 372430727 A . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -286807 Simple 762383978 C . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -286824 Simple 141605607 G . Uncertain significance 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-07-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -286826 Simple 577888458 T . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -286837 Simple 186714117 A . Uncertain significance 2 3 not specified;not provided 2017-07-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -286847 Simple 886044859 T . Uncertain significance 2 2 not specified 2016-03-28 -0.5700000000000001 1.5 Uncertain significance 0 -286857 Simple 57028146 G . Benign/Likely benign 2 3 Marinesco-Sjögren syndrome;not specified 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -286865 Simple 7764472 C . Benign 2 4 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-09-16 -24.0 1.0 Benign 0 -286866 Simple 3179969 A . Benign/Likely benign 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -286869 Simple 397508263 A . Pathogenic 3 3 Cystic fibrosis;Hereditary pancreatitis 2017-03-17 18.6 0.6666666666666666 Pathogenic 0 -286872 Simple 180680111 T . Uncertain significance 2 2 Essential thrombocythemia;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286876 Simple 886043506 - . Pathogenic/Likely pathogenic 2 1 Kabuki syndrome 1 2016-03-11 . 1.0 . 0 -286878 Simple 572861590 A . Uncertain significance 2 2 Succinate-semialdehyde dehydrogenase deficiency;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286888 Simple 144897515 G . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286893 Simple 190878515 C . Uncertain significance 2 3 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -286901 Simple 780774091 G . Uncertain significance 2 2 not specified;Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -286908 Simple 747506380 C . Uncertain significance 2 2 not specified 2017-02-13 -0.6 1.0 Uncertain significance 0 -286912 Simple 371631320 T . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2016-12-13 -0.6 1.0 Uncertain significance 0 -286913 Simple 754120599 A . Uncertain significance 2 2 not specified 2017-08-14 -0.6 0.5 Uncertain significance 0 -286914 Simple 780677467 G . Uncertain significance 2 2 not specified 2017-10-25 -0.6 0.5 Uncertain significance 0 -286923 Simple 35297226 C . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -286925 Simple 368996545 C . Uncertain significance 2 2 not specified 2017-04-20 -0.6 0.5 Uncertain significance 0 -286941 Simple 138196132 T . Uncertain significance 2 2 Acrocallosal syndrome, Schinzel type;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286945 Simple 144072948 A . Uncertain significance 2 2 not specified 2016-04-05 -0.5700000000000001 1.5 Uncertain significance 0 -286957 Simple 143782439 C . Uncertain significance 2 2 Histiocytic medullary reticulosis;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286961 Simple 113152264 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -286968 Simple 146617227 C . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -286975 Simple 374225917 T . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2016-10-12 -0.6 1.0 Uncertain significance 0 -286978 Simple 147366111 T . Uncertain significance 2 5 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2016-06-14 -1.5 1.0 Uncertain significance 0 -286984 Simple 373655492 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.1 1.0 Uncertain significance 0 -286990 Simple 148076109 A . Likely benign 2 4 Ectrodactyly;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant;TP63-Related Spectrum Disorders 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -286999 Simple 143033456 T . Uncertain significance 2 2 not specified 2017-02-13 -0.6 1.0 Uncertain significance 0 -287037 Simple 752914124 - . Pathogenic 2 2 Mucopolysaccharidosis, MPS-III-A;not provided 2017-09-29 12.0 0.5 Pathogenic/Likely pathogenic 1 -287047 Simple 201376373 G . Uncertain significance 2 3 Endplate acetylcholinesterase deficiency;not specified;Congenital Myasthenic Syndrome, Recessive 2017-05-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -287050 Simple 201302946 T . Uncertain significance 2 2 not specified 2017-06-16 -0.6 0.5 Uncertain significance 0 -287062 Simple 139859188 A . Likely benign 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-07-11 -6.0 0.5 Likely benign 0 -287063 Simple 113112855 A . Benign 2 2 Brugada syndrome 8;not specified 2017-05-19 -12.0 0.5 Benign/Likely benign 1 -287064 Simple 762317674 C . Uncertain significance 2 2 not specified 2016-07-14 -0.6 1.0 Uncertain significance 0 -287073 Simple 150639487 A . Uncertain significance 2 3 not specified;Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -287074 Simple 62617075 C . Uncertain significance 2 5 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-06-14 -1.5 1.0 Uncertain significance 0 -287080 Simple 145012038 T . Benign/Likely benign 2 2 Tay-Sachs disease;not specified 2017-08-31 -9.0 0.5 Benign/Likely benign 0 -287086 Simple 151198873 C . Uncertain significance 2 2 not specified;Hereditary hemochromatosis 2017-07-13 -0.6 0.5 Uncertain significance 0 -287096 Simple 369566680 T . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -287098 Simple 35018800 A . Likely benign 2 2 not specified;not provided 2017-06-14 -6.0 0.5 Likely benign 0 -287106 Simple 61747414 T . Benign/Likely benign 2 2 Hydatidiform mole;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287110 Simple 61737142 G . Benign 2 3 Duane-radial ray syndrome;not specified;SALL4-Related Spectrum Disorders 2016-08-08 -18.0 1.0 Benign/Likely benign 1 -287113 Simple 3027893 T . Benign 2 2 not specified 2016-03-31 -11.4 1.5 Benign/Likely benign 1 -287122 Simple 115088000 G . Benign/Likely benign 2 2 not specified 2016-05-05 -8.7 1.5 Benign/Likely benign 0 -287125 Simple 116634494 A . Uncertain significance 2 3 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-05-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -287138 Simple 10227922 G . Uncertain significance 2 3 not specified;Isolated Growth Hormone Deficiency 2017-01-11 -0.8999999999999999 1.0 Uncertain significance 0 -287141 Simple 138541811 A . Benign/Likely benign 2 2 Floating-Harbor syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287147 Simple 146922726 T . Uncertain significance 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-06-30 -0.6 0.5 Uncertain significance 0 -287156 Simple 779691812 A . Uncertain significance 2 2 not specified;Omodysplasia 2016-06-14 -0.6 1.0 Uncertain significance 0 -287175 Simple 116426399 A . Benign/Likely benign 2 2 Dysferlinopathy;not specified 2017-03-13 -9.0 0.5 Benign/Likely benign 0 -287180 Simple 149006687 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -287184 Simple 769930534 C . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-06-05 -0.6 0.5 Uncertain significance 0 -287216 Simple 886043595 C . Uncertain significance 2 2 not specified 2017-04-14 -0.6 0.5 Uncertain significance 0 -287223 Simple 781878105 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-11 -0.6 0.5 Uncertain significance 0 -287224 Simple 886043597 T . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-04-10 -0.6 0.5 Uncertain significance 0 -287231 Simple 563818052 G . Uncertain significance 2 2 not specified 2016-04-15 -0.6 1.0 Uncertain significance 0 -287232 Simple 140382474 C . Uncertain significance 2 2 Bloom syndrome;not specified 2017-03-04 -0.6 1.0 Uncertain significance 0 -287245 Simple 886043603 A . Pathogenic 2 2 Alagille syndrome 1 2017-02-28 12.0 1.0 Pathogenic/Likely pathogenic 1 -287254 Simple 886043606 A . Pathogenic 2 2 Alagille syndrome 1 2017-05-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -287259 Simple 61747968 A . Benign 2 2 Menkes kinky-hair syndrome;Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;not specified 2017-08-03 -12.0 0.5 Benign/Likely benign 1 -287288 Simple 150434290 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -287303 Simple 141292904 T . Benign/Likely benign 2 3 Neuropathy hereditary sensory and autonomic type 1;not specified 2017-06-16 -12.0 0.6666666666666666 Benign/Likely benign 0 -287305 Simple 142353864 T . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 2 2016-06-14 -0.6 1.0 Uncertain significance 0 -287313 Simple 138596741 T . Uncertain significance 2 2 not specified;not provided 2017-03-31 -0.6 0.5 Uncertain significance 0 -287314 Simple 771827261 C . Uncertain significance 2 2 not specified 2016-12-01 -0.6 1.0 Uncertain significance 0 -287315 Simple 370498798 A . Uncertain significance 2 2 Cholestanol storage disease;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287319 Simple 867851900 T . Uncertain significance 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-07-17 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -287320 Simple 72651642 A . Pathogenic 2 3 Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta type I;not provided 2017-06-05 18.0 0.6666666666666666 Pathogenic 0 -287331 Simple 201587506 T . Uncertain significance 2 2 not specified 2016-05-12 -0.6 1.0 Uncertain significance 0 -287340 Simple 149980694 T . Uncertain significance 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -287345 Simple 140469160 A . Uncertain significance 2 4 Joubert syndrome;Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -1.2 1.0 Uncertain significance 0 -287346 Simple 143990242 G . Uncertain significance 2 2 Dubin-Johnson syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287347 Simple 139417458 A . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287370 Simple 148185533 G . Uncertain significance 2 3 not specified;Osteopetrosis;Paget disease of bone 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -287376 Simple 115475262 G . Benign 2 3 Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified 2017-06-01 -17.4 1.0 Benign/Likely benign 1 -287380 Simple 368003929 T . Uncertain significance 2 2 not specified 2017-02-23 -0.6 1.0 Uncertain significance 0 -287384 Simple 369039902 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -287390 Simple 774844491 T . Uncertain significance 2 2 not specified;not provided 2016-09-30 -0.6 1.0 Uncertain significance 0 -287392 Simple 886043627 T . Likely pathogenic 2 2 Lissencephaly 3 2017-10-19 6.0 0.5 Likely pathogenic 0 -287397 Simple 370664761 T . Uncertain significance 2 2 not specified 2016-06-02 -0.6 1.0 Uncertain significance 0 -287399 Simple 143867796 A . Benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-08-01 -17.4 1.0 Benign/Likely benign 1 -287406 Simple 147931490 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-08-07 -0.6 0.5 Uncertain significance 0 -287410 Simple 17846908 T . Likely benign 2 2 not specified 2016-08-18 -6.0 1.0 Likely benign 0 -287411 Simple 199698434 T . Benign/Likely benign 2 2 Symmetrical dyschromatosis of extremities;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287418 Simple 866683190 T . Uncertain significance 2 2 not specified 2016-12-31 -0.6 1.0 Uncertain significance 0 -287422 Simple 773952935 G . Pathogenic/Likely pathogenic 2 2 Nemaline myopathy 2;not provided 2016-06-10 9.0 1.0 Pathogenic/Likely pathogenic 0 -287425 Simple 761142449 C . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2A;not specified 2017-05-23 -0.6 0.5 Uncertain significance 0 -287433 Simple 764754259 C . Pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2016-11-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -287436 Simple 17847203 T . Benign/Likely benign 2 2 not specified;Insulin-Like Growth Factor I Resistance 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287440 Simple 2161703 G . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287445 Simple 794727028 A . Pathogenic/Likely pathogenic 2 2 Ullrich congenital muscular dystrophy 1;not provided 2017-04-18 9.0 0.5 Pathogenic/Likely pathogenic 0 -287465 Simple 202149617 G . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-07-22 -0.6 0.5 Uncertain significance 0 -287469 Simple 115596276 T . Benign/Likely benign 2 2 Frontonasal dysplasia 3;not specified 2016-09-03 -9.0 1.0 Benign/Likely benign 0 -287473 Simple 776921154 T . Uncertain significance 2 2 Dysferlinopathy;not specified 2017-02-10 -0.6 1.0 Uncertain significance 0 -287487 Simple 61737997 T . Benign/Likely benign 2 3 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy 2017-07-24 -15.0 0.6666666666666666 Benign/Likely benign 0 -287488 Simple 114619322 G . Benign/Likely benign 2 3 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy 2017-07-24 -15.0 0.6666666666666666 Benign/Likely benign 0 -287496 Simple 150811951 G . Uncertain significance 2 4 Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2017-05-03 -1.2 0.75 Uncertain significance 0 -287499 Simple 764771123 - . Pathogenic/Likely pathogenic 2 3 Peroxisome biogenesis disorder 5a (zellweger);Peroxisome biogenesis disorder 5B 2016-08-16 12.0 1.0 Pathogenic/Likely pathogenic 0 -287514 Simple 374729641 T . Uncertain significance 2 2 Very long chain acyl-CoA dehydrogenase deficiency;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287515 Simple 535993919 G . Likely benign 2 2 not specified 2016-05-19 -6.0 1.0 Likely benign 0 -287521 Simple 150336658 T . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-04-02 -0.6 0.5 Uncertain significance 0 -287523 Simple 371562763 A . Uncertain significance 2 2 Brugada syndrome 8;not specified 2017-03-07 -0.6 0.5 Uncertain significance 0 -287524 Simple 142736845 C . Uncertain significance 2 2 not specified 2017-04-18 -0.6 0.5 Uncertain significance 0 -287530 Simple 200899339 T . Uncertain significance 2 2 Frank Ter Haar syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287531 Simple 201893489 A . Uncertain significance 2 2 Three M syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287541 Simple 375956049 T . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2016-10-12 -0.6 1.0 Uncertain significance 0 -287546 Simple 376029542 A . Uncertain significance 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-07-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -287558 Simple 200474297 C . Uncertain significance 2 3 Generalized epilepsy and paroxysmal dyskinesia;not specified 2017-05-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -287563 Simple 886043662 A . Uncertain significance 2 2 Mental retardation, CASK-related, X-linked;not specified 2017-05-05 -0.6 0.5 Uncertain significance 0 -287566 Simple 202073338 T . Uncertain significance 2 3 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-02-08 -0.8999999999999999 1.0 Uncertain significance 0 -287585 Simple 369633003 C . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -287591 Simple 140524372 A . Benign/Likely benign 2 3 Townes-Brocks syndrome 1;not specified 2016-08-03 -12.0 1.0 Benign/Likely benign 0 -287609 Simple 201526436 A . Benign 2 3 not specified 2016-09-23 -18.0 1.0 Benign/Likely benign 1 -287621 Simple 145977158 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-19 -12.0 0.6666666666666666 Benign/Likely benign 0 -287628 Simple 151322460 T . Benign/Likely benign 2 2 CHARGE association;not specified 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -287642 Simple 188085072 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -287651 Simple 141519183 T . Uncertain significance 2 2 Cholestanol storage disease;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287652 Simple 3812596 T . Benign 2 3 not specified;Adams-Oliver syndrome 5 2017-07-28 -18.0 0.6666666666666666 Benign/Likely benign 1 -287655 Simple 78892693 T . Benign/Likely benign 2 2 not specified 2016-04-14 -8.7 1.5 Benign/Likely benign 0 -287664 Simple 753262049 C . Uncertain significance 2 2 not specified 2017-07-11 -0.6 0.5 Uncertain significance 0 -287682 Simple 6349 A . Benign 2 2 Infantile Parkinsonism-dystonia;not specified 2017-06-05 -12.0 0.5 Benign/Likely benign 1 -287691 Simple 56091954 T . Benign/Likely benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -287709 Simple 886043704 TT . Uncertain significance 2 2 not specified 2017-08-01 -0.6 0.5 Uncertain significance 0 -287735 Simple 113870881 G . Likely benign 2 2 Severe combined immunodeficiency with sensitivity to ionizing radiation;not specified 2017-08-07 -6.0 0.5 Likely benign 0 -287736 Simple 113931414 A . Benign/Likely benign 2 3 Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -11.7 1.0 Benign/Likely benign 0 -287751 Simple 139114389 C . Uncertain significance 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -287759 Simple 759050071 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-28 -0.6 0.5 Uncertain significance 0 -287760 Simple 200853043 T . Likely benign 2 2 Emery-Dreifuss muscular dystrophy;not specified 2016-06-21 -6.0 1.0 Likely benign 0 -287768 Simple 886043721 AA . Benign 2 2 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -287769 Simple 17744093 C . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287770 Simple 34253433 T . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287773 Simple 374290931 T . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287775 Simple 567030498 G . Likely benign 2 2 not specified 2016-04-26 -5.7 1.5 Likely benign 0 -287783 Simple 71647826 A . Benign/Likely benign 2 2 Pigmentary pallidal degeneration;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287792 Simple 374685631 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -287804 Simple 137951613 T . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-08-03 -0.6 0.5 Uncertain significance 0 -287813 Simple 145412880 T . Uncertain significance 2 4 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-24 -1.2 0.75 Uncertain significance 0 -287817 Simple 886043737 T . Likely pathogenic 2 4 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2017-06-27 12.0 0.75 Pathogenic/Likely pathogenic 1 -287826 Simple 58747567 C . Benign 2 2 Succinate-semialdehyde dehydrogenase deficiency;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -287832 Simple 191099208 G . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287837 Simple 759826138 A . Pathogenic 2 2 Niemann-Pick disease type C1 2016-07-12 12.0 1.0 Pathogenic/Likely pathogenic 1 -287848 Simple 752875047 T . Uncertain significance 2 2 not specified;Cone-Rod Dystrophy, Dominant 2016-06-14 -0.6 1.0 Uncertain significance 0 -287853 Simple 199510509 T . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287862 Simple 769183047 A . Uncertain significance 2 2 not specified 2016-05-02 -0.5700000000000001 1.5 Uncertain significance 0 -287864 Simple 774241611 T . Uncertain significance 2 2 not specified 2016-05-02 -0.5700000000000001 1.5 Uncertain significance 0 -287870 Simple 146093652 G . Uncertain significance 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -0.6 1.0 Uncertain significance 0 -287871 Simple 3816644 C . Benign/Likely benign 2 2 Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287875 Simple 112333283 C . Likely benign 2 2 Brachydactyly;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -287900 Simple 568632361 T . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-01-24 -0.6 1.0 Uncertain significance 0 -287906 Simple 200485048 A . Uncertain significance 2 3 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related 2016-11-03 -0.8999999999999999 1.0 Uncertain significance 0 -287913 Simple 758775001 T . Pathogenic 2 2 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy 2017-08-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -287915 Simple 201697532 T . Pathogenic/Likely pathogenic 2 3 Alport syndrome, autosomal recessive;not provided 2016-07-11 10.8 1.6666666666666667 Pathogenic/Likely pathogenic 0 -287917 Simple 747055774 G . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2016-08-12 -0.6 1.0 Uncertain significance 0 -287928 Simple 145080072 G . Uncertain significance 2 2 Cholestanol storage disease;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287932 Simple 61735535 T . Benign/Likely benign 2 2 not specified;Osteopetrosis 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -287938 Simple 142002945 A . Benign/Likely benign 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -287940 Simple 141490569 A . Uncertain significance 2 2 not specified 2017-05-25 -0.6 0.5 Uncertain significance 0 -287941 Simple 767978961 G . Pathogenic/Likely pathogenic 2 2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2017-05-26 9.0 0.5 Pathogenic/Likely pathogenic 0 -287943 Simple 527435707 T . Uncertain significance 2 2 not specified 2017-05-23 -0.6 0.5 Uncertain significance 0 -287949 Simple 35224402 C . Benign/Likely benign 2 2 not specified 2017-10-19 -9.0 0.5 Benign/Likely benign 0 -287950 Simple 777435137 T . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -287955 Simple 773886758 T . Benign/Likely benign 2 2 not specified 2017-01-09 -9.0 1.0 Benign/Likely benign 0 -287964 Simple 200399046 G . Uncertain significance 2 2 Joubert syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -287973 Simple 2070203 A . Benign 2 2 not specified;Charcot-Marie-Tooth, Type 2 2016-06-15 -12.0 1.0 Benign/Likely benign 1 -287974 Simple 199976453 A . Likely benign 2 4 not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2016-08-17 -12.0 1.0 Benign/Likely benign 1 -287979 Simple 181657861 T . Benign/Likely benign 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-21 -15.0 0.6666666666666666 Benign/Likely benign 0 -287985 Simple 143948239 A . Uncertain significance 2 2 not specified 2016-11-22 -0.6 1.0 Uncertain significance 0 -287992 Simple 140996643 T . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2016-06-17 -0.6 1.0 Uncertain significance 0 -288008 Simple 147139414 T . Uncertain significance 2 2 Dysferlinopathy;not specified 2017-03-29 -0.6 0.5 Uncertain significance 0 -288014 Simple 59332477 T . Benign 2 2 Three M syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -288016 Simple 142783718 T . Uncertain significance 2 4 Fukuyama congenital muscular dystrophy;not specified;Walker-Warburg congenital muscular dystrophy;Dilated Cardiomyopathy, Recessive 2016-10-12 -1.2 1.0 Uncertain significance 0 -288032 Simple 368013249 C . Uncertain significance 2 2 not specified 2017-05-30 -0.6 0.5 Uncertain significance 0 -288043 Simple 138295825 A . Uncertain significance 2 3 Microphthalmia, isolated 6;Retinal degeneration;not specified;Retinal degeneration 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -288060 Simple 781928217 A . Uncertain significance 2 2 not specified;not provided 2016-08-31 -0.6 1.0 Uncertain significance 0 -288064 Simple 375949076 A . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288066 Simple 151098426 T . Uncertain significance 2 2 not specified 2017-10-26 -0.6 0.5 Uncertain significance 0 -288074 Simple 146402274 A . Uncertain significance 2 2 not specified 2017-04-11 -0.6 0.5 Uncertain significance 0 -288083 Simple 886043804 - . Uncertain significance 2 2 not specified 2017-03-27 -0.6 0.5 Uncertain significance 0 -288084 Simple 2278221 A . Benign 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-10-06 -18.0 1.0 Benign/Likely benign 1 -288085 Simple 2278222 T . Benign 2 2 not specified 2016-10-06 -12.0 1.0 Benign/Likely benign 1 -288086 Simple 3124603 C . Benign 2 2 not specified 2016-09-22 -12.0 1.0 Benign/Likely benign 1 -288087 Simple 11574908 A . Benign 2 2 not specified 2016-09-30 -12.0 1.0 Benign/Likely benign 1 -288094 Simple 76302654 G . Uncertain significance 2 2 Dubin-Johnson syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288096 Simple 147283849 A . Uncertain significance 2 2 Alpha-1-antitrypsin deficiency;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288097 Simple 565045703 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288113 Simple 544816408 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified 2017-04-21 -0.6 0.5 Uncertain significance 0 -288115 Simple 371841573 T . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288122 Simple 149302006 T . Likely benign 2 2 Townes-Brocks syndrome 1;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -288124 Simple 201361687 G . Uncertain significance 2 2 not specified 2017-10-26 -0.6 0.5 Uncertain significance 0 -288132 Simple 202234531 A . Likely benign 2 2 not specified 2016-10-10 -6.0 1.0 Likely benign 0 -288135 Simple 782779958 T . Uncertain significance 2 2 not specified 2017-02-09 -0.6 1.0 Uncertain significance 0 -288144 Simple 113806963 T . Uncertain significance 2 2 not specified;Ellis-van Creveld Syndrome 2016-06-30 -0.6 1.0 Uncertain significance 0 -288173 Simple 201124357 A . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -288197 Simple 745319034 TT . Pathogenic 2 2 Cystinuria 2016-06-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -288198 Simple 199517801 A . Uncertain significance 2 2 not specified 2017-03-15 -0.6 0.5 Uncertain significance 0 -288220 Simple 148865136 C . Uncertain significance 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;not specified;Myasthenic syndrome, congenital, 17 2017-06-30 -0.6 0.5 Uncertain significance 0 -288222 Simple 138254005 C . Uncertain significance 2 2 not specified;Acromesomelic Dysplasia 2016-06-22 -0.6 1.0 Uncertain significance 0 -288236 Simple 148135928 A . Uncertain significance 2 2 not specified 2017-05-18 -0.6 0.5 Uncertain significance 0 -288238 Simple 537408260 A . Uncertain significance 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288250 Simple 375734226 G . Benign/Likely benign 2 3 Hereditary factor IX deficiency disease;Thrombophilia, X-linked, due to factor IX defect;not specified;Hemophilia B, Factor IX Deficiency 2017-06-19 -15.0 0.6666666666666666 Benign/Likely benign 0 -288252 Simple 143169084 A . Uncertain significance 2 2 Hydatidiform mole;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288255 Simple 886043841 - . Pathogenic/Likely pathogenic 2 2 Bardet-Biedl syndrome 10 2016-07-15 9.0 1.0 Pathogenic/Likely pathogenic 0 -288256 Simple 141650598 T . Uncertain significance 2 3 Zellweger syndrome;not specified 2017-05-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -288260 Simple 139329419 T . Benign 2 2 not specified 2016-06-23 -11.4 1.5 Benign/Likely benign 1 -288271 Simple 149296410 A . Benign/Likely benign 2 3 Limb-girdle muscular dystrophy, type 2D;not specified 2016-06-24 -15.0 1.0 Benign/Likely benign 0 -288276 Simple 752598065 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-03 -0.6 0.5 Uncertain significance 0 -288278 Simple 113017484 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-02-09 -0.6 1.0 Uncertain significance 0 -288306 Simple 202173395 A . Uncertain significance 2 2 not specified 2017-08-01 -0.6 0.5 Uncertain significance 0 -288322 Simple 139039658 T . Uncertain significance 2 2 not specified 2017-05-11 -0.6 0.5 Uncertain significance 0 -288331 Simple 199857861 A . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-30 -0.6 1.0 Uncertain significance 0 -288335 Simple 61744639 T . Benign/Likely benign 2 3 Cranioectodermal dysplasia 1;not specified;not provided 2017-09-15 -12.0 0.3333333333333333 Benign/Likely benign 0 -288341 Simple 575453437 T . Likely pathogenic 2 3 Stargardt disease 1;not provided 2017-04-30 8.4 1.3333333333333333 Pathogenic/Likely pathogenic 1 -288376 Simple 782134827 A . Uncertain significance 2 2 not specified 2017-09-11 -0.6 0.5 Uncertain significance 0 -288386 Simple 568309673 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -288393 Simple 141934227 A . Benign/Likely benign 2 2 not specified 2016-11-18 -9.0 1.0 Benign/Likely benign 0 -288395 Simple 146320179 C . Uncertain significance 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-12-07 -1.2 1.0 Uncertain significance 0 -288398 Simple 150430813 A . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288412 Simple 201890095 C . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -288419 Simple 370664069 T . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-07-17 -0.6 0.5 Uncertain significance 0 -288421 Simple 772375574 A . Uncertain significance 2 2 not specified 2017-04-18 -0.6 0.5 Uncertain significance 0 -288422 Simple 563449281 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2016-08-01 -0.6 1.0 Uncertain significance 0 -288427 Simple 3824395 C . Benign 2 2 not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-15 -12.0 1.0 Benign/Likely benign 1 -288428 Simple 3751371 A . Benign/Likely benign 2 4 Severe autosomal recessive muscular dystrophy of childhood - North African type;Spastic ataxia Charlevoix-Saguenay type;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-15 -21.0 1.0 Benign/Likely benign 0 -288430 Simple 886043894 - . Uncertain significance 2 2 not specified 2017-07-03 -0.6 0.5 Uncertain significance 0 -288441 Simple 144514259 T . Likely benign 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -288443 Simple 145048734 T . Likely benign 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -288447 Simple 565527346 A . Benign/Likely benign 2 4 Limb-girdle muscular dystrophy, type 1E;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2017-04-13 -15.0 0.75 Benign/Likely benign 0 -288457 Simple 199716270 A . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288461 Simple 201884779 G . Uncertain significance 2 3 Zellweger syndrome;not specified 2017-05-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -288467 Simple 113005049 A . Uncertain significance 2 2 Sitosterolemia;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288471 Simple 373255125 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288498 Simple 75153800 A . Uncertain significance 2 2 not specified 2017-05-03 -0.6 0.5 Uncertain significance 0 -288504 Simple 751532649 A . Uncertain significance 2 2 not specified 2016-12-15 -0.6 1.0 Uncertain significance 0 -288505 Simple 886043920 - . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II 2016-06-06 9.0 1.0 Pathogenic/Likely pathogenic 0 -288511 Simple 886043924 A . Pathogenic/Likely pathogenic 2 6 Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2016-12-08 21.0 1.0 Pathogenic 1 -288512 Simple 3812956 A . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-05 -18.0 1.0 Benign/Likely benign 1 -288513 Simple 3812953 T . Benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-28 -18.0 1.0 Benign/Likely benign 1 -288524 Simple 111305526 G . Benign/Likely benign 2 2 not specified 2017-07-06 -9.0 0.5 Benign/Likely benign 0 -288534 Simple 765829383 C . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288535 Simple 372414566 A . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -288545 Simple 3761169 A . Uncertain significance 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -288558 Simple 4148211 G . Benign 2 2 Sitosterolemia;not specified 2016-07-13 -12.0 1.0 Benign/Likely benign 1 -288562 Simple 537838691 A . Uncertain significance 2 2 not specified 2017-10-16 -0.6 0.5 Uncertain significance 0 -288565 Simple 374812974 T . Uncertain significance 2 2 not specified 2017-09-07 -0.6 0.5 Uncertain significance 0 -288567 Simple 199606147 A . Uncertain significance 2 2 not specified 2017-04-24 -0.6 0.5 Uncertain significance 0 -288577 Simple 772664716 G . Uncertain significance 2 2 not specified 2017-04-18 -0.6 0.5 Uncertain significance 0 -288592 Simple 140756827 T . Likely benign 2 2 not specified;Spastic paraplegia 2017-07-26 -6.0 0.5 Likely benign 0 -288606 Simple 150387338 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-06-07 -0.6 0.5 Uncertain significance 0 -288611 Simple 757846451 C . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-04-19 -0.6 0.5 Uncertain significance 0 -288638 Simple 770448083 T . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -288658 Simple 138699534 T . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2016-10-18 -0.6 1.0 Uncertain significance 0 -288667 Simple 773506774 A . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2016-11-15 -0.6 1.0 Uncertain significance 0 -288686 Simple 779535244 A . Uncertain significance 2 2 not specified 2017-05-31 -0.6 0.5 Uncertain significance 0 -288688 Simple 753654674 G . Uncertain significance 2 2 not specified 2017-02-22 -0.6 1.0 Uncertain significance 0 -288693 Simple 199635188 A . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -288702 Simple 59276128 A . Benign/Likely benign 2 2 not specified 2017-07-06 -9.0 0.5 Benign/Likely benign 0 -288703 Simple 200793796 G . Benign/Likely benign 2 4 Succinate-semialdehyde dehydrogenase deficiency;not specified 2017-07-11 -20.4 1.0 Benign/Likely benign 0 -288710 Simple 369011228 A . Uncertain significance 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -0.6 1.0 Uncertain significance 0 -288725 Simple 886043989 T . Pathogenic 2 2 Duchenne muscular dystrophy 2017-01-24 12.0 1.0 Pathogenic/Likely pathogenic 1 -288727 Simple 142068898 T . Benign/Likely benign 2 2 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not specified 2016-09-29 -9.0 1.0 Benign/Likely benign 0 -288741 Simple 149030452 C . Benign/Likely benign 2 2 not specified 2017-08-18 -9.0 0.5 Benign/Likely benign 0 -288755 Simple 771667880 A . Uncertain significance 2 2 not specified 2016-07-26 -0.5700000000000001 1.5 Uncertain significance 0 -288760 Simple 72648995 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-20 -0.6 1.0 Uncertain significance 0 -288762 Simple 72677226 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-20 -0.6 1.0 Uncertain significance 0 -288781 Simple 149436191 A . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-01 -0.6 0.5 Uncertain significance 0 -288785 Simple 760633483 C . Uncertain significance 2 2 Cone-rod dystrophy amelogenesis imperfecta;not specified 2016-07-12 -0.6 1.0 Uncertain significance 0 -288794 Simple 201073763 C . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-03-08 -0.6 0.5 Uncertain significance 0 -288799 Simple 373392391 T . Uncertain significance 2 2 not specified 2017-05-04 -0.6 0.5 Uncertain significance 0 -288814 Simple 886044013 - . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-07 -0.6 0.5 Uncertain significance 0 -288820 Simple 114804083 T . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2017-06-12 -9.0 0.5 Benign/Likely benign 0 -288848 Simple 114747836 A . Benign/Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-06-27 -15.0 0.3333333333333333 Benign/Likely benign 0 -288849 Simple 74463786 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-07-27 -18.0 0.5 Benign/Likely benign 0 -288855 Simple 150550013 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2016-10-26 -0.6 1.0 Uncertain significance 0 -288866 Simple 171978 T . Benign/Likely benign 2 5 not specified;Retinal dystrophy;Combined Pituitary Hormone Deficiency, Dominant;Syndromic Microphthalmia, Dominant;OTX2-Related Syndromic Microphthalmia 2016-06-20 -18.0 1.0 Benign/Likely benign 0 -288868 Simple 200124902 C . Uncertain significance 2 3 not specified;not provided 2017-08-15 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -288871 Simple 766241487 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-02-10 -0.6 1.0 Uncertain significance 0 -288872 Simple 372154635 T . Uncertain significance 2 3 Bethlem myopathy 1;not specified 2017-04-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -288877 Simple 139498556 T . Uncertain significance 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-04-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -288879 Simple 146064054 A . Uncertain significance 2 3 not specified;Peripheral neuropathy 2017-01-23 -0.8999999999999999 1.0 Uncertain significance 0 -288888 Simple 139805184 C . Uncertain significance 2 2 not specified 2016-12-01 -0.6 1.0 Uncertain significance 0 -288894 Simple 150982073 T . Uncertain significance 2 2 Anophthalmia-microphthalmia syndrome;not specified 2016-12-08 -0.6 1.0 Uncertain significance 0 -288898 Simple 148886271 A . Uncertain significance 2 2 not specified 2017-06-13 -0.6 0.5 Uncertain significance 0 -288899 Simple 201783863 T . Uncertain significance 2 2 Cone dystrophy 3;not specified 2016-07-05 -0.6 1.0 Uncertain significance 0 -288905 Simple 145280904 T . Likely benign 2 2 not specified 2016-07-07 -6.0 1.0 Likely benign 0 -288908 Simple 374965803 A . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2017-05-30 -0.6 0.5 Uncertain significance 0 -288912 Simple 147715509 G . Likely benign 2 3 Congenital absence of salivary gland;Levy-Hollister syndrome;not specified 2016-08-18 -9.0 1.0 Benign/Likely benign 1 -288926 Simple 886044042 C . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified 2017-06-28 -0.6 0.5 Uncertain significance 0 -288928 Simple 146020545 C . Uncertain significance 2 3 Duchenne muscular dystrophy;not specified 2017-07-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -288937 Simple 200306249 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-07-13 -0.6 1.0 Uncertain significance 0 -288942 Simple 750911961 T . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-23 -0.8999999999999999 1.0 Uncertain significance 0 -288944 Simple 111395856 T . Uncertain significance 2 2 not specified 2017-06-13 -0.6 0.5 Uncertain significance 0 -288953 Simple 150335599 A . Uncertain significance 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-08-31 -1.2 1.0 Uncertain significance 0 -288959 Simple 144731446 G . Uncertain significance 2 4 Spheroid body myopathy;not specified;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2016-07-12 -1.2 1.0 Uncertain significance 0 -288962 Simple 192131551 A . Uncertain significance 2 2 not specified;Parkinson Disease, Recessive 2016-07-15 -0.6 1.0 Uncertain significance 0 -288969 Simple 146906267 A . Uncertain significance 2 2 Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified 2017-06-21 -0.6 0.5 Uncertain significance 0 -288973 Simple 554176183 - . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2016-10-25 -0.6 1.0 Uncertain significance 0 -288985 Simple 375384257 T . Uncertain significance 2 3 not specified;Congenital Bile Acid Synthesis Defect;Spastic Paraplegia, Recessive 2016-06-23 -0.8999999999999999 1.0 Uncertain significance 0 -288998 Simple 757836789 A . Uncertain significance 2 2 not specified 2017-07-03 -0.6 0.5 Uncertain significance 0 -289000 Simple 869025455 T . Uncertain significance 2 2 not specified 2016-10-13 -0.6 1.0 Uncertain significance 0 -289003 Simple 886044058 T . Pathogenic 2 2 not provided;Joubert syndrome 21 2017-01-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -289007 Simple 7794560 C . Benign 2 2 not specified 2016-06-28 -11.4 1.5 Benign/Likely benign 1 -289018 Simple 369427864 G . Likely benign 2 2 not specified 2016-11-10 -6.0 1.0 Likely benign 0 -289026 Simple 113615425 A . Benign/Likely benign 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-07-12 -15.0 0.6666666666666666 Benign/Likely benign 0 -289027 Simple 141709685 A . Uncertain significance 2 3 Lethal arthrogryposis with anterior horn cell disease;not specified;Lethal Congenital Contracture Syndrome 2016-07-21 -0.8999999999999999 1.0 Uncertain significance 0 -289030 Simple 750735519 C . Uncertain significance 2 2 not specified 2017-01-26 -0.6 1.0 Uncertain significance 0 -289042 Simple 149894086 C . Likely benign 2 2 Osteogenesis imperfecta type 8;not specified 2017-06-23 -6.0 0.5 Likely benign 0 -289060 Simple 886044073 T . Uncertain significance 2 2 not specified 2016-07-14 -0.5700000000000001 1.5 Uncertain significance 0 -289062 Simple 116698870 T . Uncertain significance 2 2 Hermansky-Pudlak syndrome;not specified 2016-08-19 -0.6 1.0 Uncertain significance 0 -289084 Simple 147991100 G . Uncertain significance 2 2 Sitosterolemia;not specified 2016-06-23 -0.6 1.0 Uncertain significance 0 -289087 Simple 146125558 T . Uncertain significance 2 2 Myopathy with postural muscle atrophy, X-linked;not specified 2016-07-08 -0.6 1.0 Uncertain significance 0 -289098 Simple 777607869 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-07-08 -0.8999999999999999 1.0 Uncertain significance 0 -289118 Simple 147934334 T . Likely benign 2 2 not specified 2016-07-26 -6.0 1.0 Likely benign 0 -289120 Simple 886044090 A . Uncertain significance 2 2 not specified 2017-05-09 -0.6 0.5 Uncertain significance 0 -289129 Simple 368255259 C . Uncertain significance 2 2 Facioscapulohumeral muscular dystrophy 2;not specified 2017-06-28 -0.6 0.5 Uncertain significance 0 -289135 Simple 61761869 A . Pathogenic 2 3 Alpha-1-antitrypsin deficiency;not provided 2017-05-09 17.4 1.0 Pathogenic 0 -289140 Simple 750724439 A . Uncertain significance 2 4 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-28 -1.2 0.75 Uncertain significance 0 -289141 Simple 370619063 A . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-30 -2.1 1.0 Uncertain significance 0 -289144 Simple 201220016 T . Uncertain significance 2 2 not specified 2017-06-26 -0.6 0.5 Uncertain significance 0 -289146 Simple 199736749 C . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-02-06 -0.6 1.0 Uncertain significance 0 -289153 Simple 149974099 T . Uncertain significance 2 2 Smith-Lemli-Opitz syndrome;not specified 2016-06-27 -0.6 1.0 Uncertain significance 0 -289169 Simple 200954103 C . Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-08-02 -12.0 0.75 Benign/Likely benign 1 -289173 Simple 757124573 - . Uncertain significance 2 2 not specified 2017-01-17 -0.6 1.0 Uncertain significance 0 -289175 Simple 34712643 G . Benign/Likely benign 2 2 Sialidosis, type II;not specified 2016-07-12 -9.0 1.0 Benign/Likely benign 0 -289176 Simple 148275339 A . Benign 2 3 Osteogenesis imperfecta type I;not specified 2017-07-14 -18.0 0.6666666666666666 Benign/Likely benign 1 -289186 Simple 34623939 C . Likely benign 2 2 not specified 2017-06-16 -6.0 0.5 Likely benign 0 -289201 Simple 145303578 T . Uncertain significance 2 2 not specified;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2016-06-28 -0.6 1.0 Uncertain significance 0 -289202 Simple 886044116 AG . Uncertain significance 2 2 not specified 2017-02-16 -0.6 1.0 Uncertain significance 0 -289211 Simple 745857330 G . Uncertain significance 2 5 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2017-02-21 -1.5 1.0 Uncertain significance 0 -289215 Simple 141521745 T . Benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -289267 Simple 768457461 T . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-04-24 -0.6 0.5 Uncertain significance 0 -289274 Simple 796214553 - . Uncertain significance 2 2 not specified 2017-05-11 -0.6 0.5 Uncertain significance 0 -289284 Simple 199960807 T . Uncertain significance 2 2 not specified 2016-07-19 -0.6 1.0 Uncertain significance 0 -289290 Simple 146329532 C . Benign/Likely benign 2 2 not specified;not provided 2017-05-31 -9.0 0.5 Benign/Likely benign 0 -289297 Simple 139428189 G . Benign/Likely benign 2 3 not specified;Common variable immunodeficiency 8, with autoimmunity 2017-07-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -289303 Simple 149797560 A . Uncertain significance 2 2 not provided;Deafness, autosomal dominant 40 2017-01-24 -0.6 1.0 Uncertain significance 0 -289305 Simple 147790742 C . Likely benign 2 3 not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive 2016-08-17 -9.0 1.0 Benign/Likely benign 1 -289310 Simple 201855602 A . Pathogenic 2 2 Stargardt disease 1;not provided 2016-10-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -289314 Simple 182096110 G . Benign/Likely benign 2 5 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-08-08 -18.0 1.0 Benign/Likely benign 0 -289316 Simple 182941675 A . Benign/Likely benign 2 4 Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not specified;Retinitis Pigmentosa, Recessive 2016-08-08 -15.0 1.0 Benign/Likely benign 0 -289324 Simple 201943194 T . Pathogenic 2 3 Ciliary dyskinesia, primary, 7;Primary ciliary dyskinesia 2017-01-24 18.0 1.0 Pathogenic 0 -289327 Simple 199628481 A . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-08-05 -0.8999999999999999 1.0 Uncertain significance 0 -289332 Simple 148144773 A . Uncertain significance 2 2 not specified;Parkinson Disease, Recessive 2016-08-01 -0.6 1.0 Uncertain significance 0 -289333 Simple 145909413 T . Uncertain significance 2 2 not specified;Megaloblastic anemia 2016-08-11 -0.6 1.0 Uncertain significance 0 -289336 Simple 35343172 C . Benign/Likely benign 2 5 Basal laminar drusen;Atypical hemolytic uremic syndrome;Mesangiocapillary glomerulonephritis, type II;not specified;Macular degeneration 2016-08-11 -18.0 1.0 Benign/Likely benign 0 -289342 Simple 201877419 A . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2017-05-08 -0.6 0.5 Uncertain significance 0 -289345 Simple 146238726 A . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-07-12 -0.8999999999999999 1.0 Uncertain significance 0 -289356 Simple 144857480 G . Uncertain significance 2 2 not specified 2017-07-07 -0.6 0.5 Uncertain significance 0 -289381 Simple 750168379 G . Uncertain significance 2 2 not specified 2017-08-25 -0.6 0.5 Uncertain significance 0 -289396 Simple 143093165 G . Likely benign 2 3 not specified;not provided;Spinocerebellar Ataxia, Dominant 2017-03-08 -9.0 0.6666666666666666 Benign/Likely benign 1 -289401 Simple 11225674 T . Benign 2 2 not specified 2016-07-20 -11.4 1.5 Benign/Likely benign 1 -289407 Simple 140608161 T . Uncertain significance 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-08-10 -1.2 1.0 Uncertain significance 0 -289408 Simple 200225298 A . Uncertain significance 2 2 not specified 2016-09-12 -0.6 1.0 Uncertain significance 0 -289416 Simple 572722130 A . Uncertain significance 2 3 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-10-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -289421 Simple 145553035 T . Uncertain significance 2 2 Pseudoinflammatory fundus dystrophy;not specified 2016-07-19 -0.6 1.0 Uncertain significance 0 -289423 Simple 867412512 G . Uncertain significance 2 2 Dermatofibrosis lenticularis disseminata;not specified 2016-08-30 -0.6 1.0 Uncertain significance 0 -289424 Simple 376970201 C . Benign/Likely benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-08-30 -12.0 1.0 Benign/Likely benign 0 -289430 Simple 146432734 A . Benign/Likely benign 2 3 Robinow syndrome;Brachydactyly;not specified 2016-08-30 -12.0 1.0 Benign/Likely benign 0 -289435 Simple 372713647 A . Uncertain significance 2 2 not specified 2017-05-02 -0.6 0.5 Uncertain significance 0 -289454 Simple 56743160 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified 2017-10-05 -15.0 0.3333333333333333 Benign/Likely benign 0 -289456 Simple 147538442 A . Benign 2 2 Charcot-Marie-Tooth disease, dominant intermediate C;not specified 2016-09-20 -12.0 1.0 Benign/Likely benign 1 -289460 Simple 182840163 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-08-26 -9.0 1.0 Benign/Likely benign 0 -289463 Simple 368529230 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-09 -0.6 1.0 Uncertain significance 0 -289464 Simple 376840697 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-02-27 -0.6 1.0 Uncertain significance 0 -289471 Simple 374203339 A . Uncertain significance 2 2 Dysferlinopathy;not specified 2016-07-15 -0.6 1.0 Uncertain significance 0 -289472 Simple 755588907 A . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2016-07-15 -0.6 1.0 Uncertain significance 0 -289473 Simple 886044183 T . Pathogenic/Likely pathogenic 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Walker-Warburg congenital muscular dystrophy 2016-07-15 9.0 1.0 Pathogenic/Likely pathogenic 0 -289483 Simple 754177085 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-07-25 -0.8999999999999999 1.0 Uncertain significance 0 -289486 Simple 886044890 - . Pathogenic 2 2 not provided;X-linked recessive inheritance 2016-07-25 12.0 1.0 Pathogenic/Likely pathogenic 1 -289490 Simple 767415886 T . Uncertain significance 2 2 not specified 2016-10-20 -0.6 1.0 Uncertain significance 0 -289494 Simple 140010311 C . Benign/Likely benign 2 2 Ataxia with vitamin E deficiency;not specified 2016-08-17 -9.0 1.0 Benign/Likely benign 0 -289499 Simple 750839038 T . Uncertain significance 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-07-29 -2.4 1.0 Uncertain significance 0 -289501 Simple 148468879 A . Uncertain significance 2 2 Smith-Lemli-Opitz syndrome;not specified 2016-08-09 -0.6 1.0 Uncertain significance 0 -289503 Simple 2001345 C . Benign 2 2 Ateleiotic dwarfism;Autosomal dominant isolated somatotropin deficiency;Kowarski syndrome;Isolated growth hormone deficiency type 1B;not specified 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -289508 Simple 530361602 T . Uncertain significance 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-08-08 -0.6 1.0 Uncertain significance 0 -289517 Simple 200007424 T . Uncertain significance 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-07-12 -0.6 0.5 Uncertain significance 0 -289521 Simple 145064612 A . Benign 2 2 Duchenne muscular dystrophy;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -289523 Simple 570847832 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-26 -0.6 1.0 Uncertain significance 0 -289524 Simple 555577161 A . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-07-14 -2.1 1.0 Uncertain significance 0 -289546 Simple 140421486 T . Uncertain significance 2 2 not specified;Congenital Bile Acid Synthesis Defect 2016-07-14 -0.6 1.0 Uncertain significance 0 -289557 Simple 150860808 T . Likely benign 2 2 not specified 2017-01-11 -6.0 1.0 Likely benign 0 -289560 Simple 375558499 A . Uncertain significance 2 2 not specified 2017-05-04 -0.6 0.5 Uncertain significance 0 -289565 Simple 199714523 G . Uncertain significance 2 4 not specified;Walker-Warburg congenital muscular dystrophy 2017-08-01 -1.2 0.75 Uncertain significance 0 -289567 Simple 376665722 T . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-05-30 -0.6 0.5 Uncertain significance 0 -289571 Simple 766433603 A . Uncertain significance 2 2 not specified 2017-01-13 -0.6 1.0 Uncertain significance 0 -289581 Simple 886044215 - . Pathogenic/Likely pathogenic 2 2 not provided 2017-07-31 9.0 0.5 Pathogenic/Likely pathogenic 0 -289590 Simple 199534074 C . Uncertain significance 2 3 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive 2016-07-29 -0.8999999999999999 1.0 Uncertain significance 0 -289600 Simple 761669740 T . Uncertain significance 2 2 Cystic fibrosis;not specified 2016-07-18 -0.6 1.0 Uncertain significance 0 -289609 Simple 370476531 G . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-08-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -289611 Simple 143863631 T . Uncertain significance 2 5 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-03-27 -1.5 0.8 Uncertain significance 0 -289614 Simple 782402689 A . Uncertain significance 2 2 Retinitis pigmentosa 15;not specified 2016-08-18 -0.6 1.0 Uncertain significance 0 -289616 Simple 375986111 A . Uncertain significance 2 5 not specified;Stargardt Disease, Dominant;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Recessive;Retinal Macular Dystrophy 2016-08-18 -1.5 1.0 Uncertain significance 0 -289621 Simple 148794835 C . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-07-26 -0.6 1.0 Uncertain significance 0 -289627 Simple 200472299 G . Uncertain significance 2 2 Marles Greenberg Persaud syndrome;not specified 2016-07-28 -0.6 1.0 Uncertain significance 0 -289628 Simple 751749989 T . Uncertain significance 2 2 not specified 2016-11-15 -0.6 1.0 Uncertain significance 0 -289644 Simple 147764579 A . Pathogenic/Likely pathogenic 2 3 Limb-girdle muscular dystrophy, type 2A;not provided 2017-07-06 15.0 0.3333333333333333 Pathogenic 1 -289648 Simple 368709678 T . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-08-18 -0.8999999999999999 1.0 Uncertain significance 0 -289651 Simple 886044231 A . Pathogenic/Likely pathogenic 2 3 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided 2016-08-15 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -289666 Simple 143827025 C . Uncertain significance 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-07-29 -0.6 1.0 Uncertain significance 0 -289675 Simple 143139259 G . Uncertain significance 2 3 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-07-27 -0.8999999999999999 1.0 Uncertain significance 0 -289678 Simple 200334999 A . Uncertain significance 2 3 not specified;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2017-02-16 -0.87 1.3333333333333333 Uncertain significance 0 -289682 Simple 886044238 A . Pathogenic/Likely pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2016-10-12 9.0 1.0 Pathogenic/Likely pathogenic 0 -289692 Simple 146274789 T . Uncertain significance 2 3 Jarcho-Levin syndrome;not specified;Syndactyly 2016-09-02 -0.8999999999999999 1.0 Uncertain significance 0 -289698 Simple 375955080 A . Benign/Likely benign 2 2 Holt-Oram syndrome;not specified 2016-09-02 -9.0 1.0 Benign/Likely benign 0 -289699 Simple 369717113 T . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-07-29 -0.6 1.0 Uncertain significance 0 -289722 Simple 762283381 A . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-05-26 -0.6 0.5 Uncertain significance 0 -289723 Simple 144242690 C . Uncertain significance 2 2 not specified 2016-11-18 -0.6 1.0 Uncertain significance 0 -289730 Simple 35741412 A . Benign/Likely benign 2 3 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like;not specified 2017-08-07 -15.0 0.3333333333333333 Benign/Likely benign 0 -289747 Simple 533400580 G . Uncertain significance 2 2 not specified 2016-08-11 -0.6 1.0 Uncertain significance 0 -289749 Simple 201355305 T . Uncertain significance 2 2 not specified;Steroid-resistant nephrotic syndrome 2016-07-22 -0.6 1.0 Uncertain significance 0 -289755 Simple 886044252 T . Pathogenic 2 2 Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 2017-06-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -289807 Simple 144936899 C . Uncertain significance 2 2 Hajdu-Cheney syndrome;not specified 2017-04-17 -0.6 0.5 Uncertain significance 0 -289818 Simple 143800157 A . Uncertain significance 2 3 Multiple pterygium syndrome Escobar type;not specified 2016-07-25 -0.8999999999999999 1.0 Uncertain significance 0 -289823 Simple 139063552 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-07-26 -0.6 1.0 Uncertain significance 0 -289833 Simple 143307183 G . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-07-26 -0.6 1.0 Uncertain significance 0 -289840 Simple 142900784 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-08-11 -12.0 1.0 Benign/Likely benign 0 -289841 Simple 142219317 G . Benign/Likely benign 2 2 not specified 2016-08-26 -9.0 1.0 Benign/Likely benign 0 -289843 Simple 375688386 C . Uncertain significance 2 2 not specified 2017-04-13 -0.6 0.5 Uncertain significance 0 -289850 Simple 150570281 T . Uncertain significance 2 2 not specified 2017-03-06 -0.6 0.5 Uncertain significance 0 -289851 Simple 373421312 T . Uncertain significance 2 2 Hermansky-Pudlak syndrome;not specified 2016-08-02 -0.6 1.0 Uncertain significance 0 -289859 Simple 369342678 A . Uncertain significance 2 2 Osteogenesis imperfecta type 8;not specified 2017-03-16 -0.6 0.5 Uncertain significance 0 -289862 Simple 764839023 A . Uncertain significance 2 2 Baller-Gerold syndrome;not specified 2016-08-31 -0.6 1.0 Uncertain significance 0 -289872 Simple 141810774 C . Uncertain significance 2 2 not specified;Mitochondrial DNA depletion syndrome 2016-08-03 -0.6 1.0 Uncertain significance 0 -289890 Simple 142205860 G . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-08-02 -0.6 1.0 Uncertain significance 0 -289891 Simple 749205073 T . Uncertain significance 2 2 not specified 2017-11-06 -0.6 0.5 Uncertain significance 0 -289921 Simple 768203123 A . Uncertain significance 2 2 not specified 2016-08-12 -0.5700000000000001 1.5 Uncertain significance 0 -289925 Simple 61751556 A . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-05-10 -0.6 0.5 Uncertain significance 0 -289936 Simple 886044310 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-05 -0.6 1.0 Uncertain significance 0 -289937 Simple 201962257 A . Uncertain significance 2 2 not specified 2017-09-12 -0.6 0.5 Uncertain significance 0 -289944 Simple 764497513 A . Pathogenic/Likely pathogenic 2 2 Familial infantile myasthenia 2016-08-16 8.7 1.5 Pathogenic/Likely pathogenic 0 -289955 Simple 375867319 G . Likely pathogenic 2 2 Galactosylceramide beta-galactosidase deficiency 2017-01-25 6.0 1.0 Likely pathogenic 0 -289960 Simple 886044317 C . Uncertain significance 2 2 Dysferlinopathy;not specified 2017-01-24 -0.6 1.0 Uncertain significance 0 -289967 Simple 202217420 T . Pathogenic 2 4 Congenital myotonia, autosomal recessive form;not provided 2017-07-24 23.4 0.75 Pathogenic 0 -289975 Simple 754770911 G . Uncertain significance 2 2 not specified 2017-01-27 -0.6 1.0 Uncertain significance 0 -289981 Simple 762918371 C . Uncertain significance 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2016-08-02 -0.8999999999999999 1.0 Uncertain significance 0 -289985 Simple 200595851 T . Uncertain significance 2 2 Dubin-Johnson syndrome;not specified 2016-08-02 -0.6 1.0 Uncertain significance 0 -289991 Simple 34127289 C . Benign 2 2 not specified;Spinal muscular atrophy, distal, autosomal recessive, 5 2017-05-29 -12.0 0.5 Benign/Likely benign 1 -290002 Simple 191971137 A . Uncertain significance 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-09-08 -0.8999999999999999 1.0 Uncertain significance 0 -290007 Simple 776559951 T . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-03 -0.6 0.5 Uncertain significance 0 -290008 Simple 530742766 G . Benign 2 2 not specified 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -290012 Simple 576402053 G . Likely benign 2 2 not specified 2016-09-21 -6.0 1.0 Likely benign 0 -290028 Simple 531460906 A . Uncertain significance 2 2 not specified 2017-01-18 -0.6 1.0 Uncertain significance 0 -290030 Simple 150968643 G . Uncertain significance 2 3 Methylmalonic acidemia;not specified 2017-10-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -290031 Simple 370122334 T . Uncertain significance 2 3 Hypophosphatasia;not specified 2017-04-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -290035 Simple 140731551 T . Uncertain significance 2 2 Glycogen storage disease, type V;not specified 2016-08-05 -0.6 1.0 Uncertain significance 0 -290042 Simple 147907236 A . Uncertain significance 2 2 Cohen syndrome;not specified 2016-08-16 -0.6 1.0 Uncertain significance 0 -290043 Simple 141974120 C . Benign 2 2 ATR-X syndrome;not specified 2017-03-30 -12.0 0.5 Benign/Likely benign 1 -290048 Simple 200292361 T . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2016-09-02 -0.6 1.0 Uncertain significance 0 -290055 Simple 146309392 T . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-08-31 -0.8999999999999999 1.0 Uncertain significance 0 -290060 Simple 116591972 T . Benign/Likely benign 2 3 Craniometaphyseal dysplasia;not specified;Chondrocalcinosis 2016-09-02 -12.0 1.0 Benign/Likely benign 0 -290061 Simple 553561553 G . Uncertain significance 2 3 Pendred's syndrome;not specified;Nonsyndromic Hearing Loss, Mixed 2016-09-02 -0.8999999999999999 1.0 Uncertain significance 0 -290069 Simple 147057169 T . Uncertain significance 2 2 not specified 2016-11-09 -0.6 1.0 Uncertain significance 0 -290071 Simple 750904641 CATATCCAATGATCGGTGCACCACCAT . Uncertain significance 2 2 not specified 2017-07-31 -0.6 0.5 Uncertain significance 0 -290076 Simple 150082469 A . Benign 2 3 Citrin deficiency;not specified 2016-11-22 -17.4 1.3333333333333333 Benign/Likely benign 1 -290080 Simple 533766104 A . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-08-08 -0.6 1.0 Uncertain significance 0 -290082 Simple 139800035 T . Uncertain significance 2 2 Dubin-Johnson syndrome;not specified 2016-08-08 -0.6 1.0 Uncertain significance 0 -290085 Simple 201935658 A . Uncertain significance 2 2 Collagen VI-related myopathy;not specified 2016-08-22 -0.6 1.0 Uncertain significance 0 -290091 Simple 201685248 T . Uncertain significance 2 2 not specified 2016-11-02 -0.6 1.0 Uncertain significance 0 -290094 Simple 750041378 T . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-04-25 -0.6 0.5 Uncertain significance 0 -290117 Simple 777049924 A . Uncertain significance 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-08-24 -1.77 1.1666666666666667 Uncertain significance 0 -290123 Simple 369632735 A . Uncertain significance 2 2 not specified;Nephrotic syndrome 2016-09-06 -0.6 1.0 Uncertain significance 0 -290129 Simple 1061399 A . Benign 2 2 Three M syndrome;not specified 2016-09-01 -12.0 1.0 Benign/Likely benign 1 -290154 Simple 376694958 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-04-26 -0.6 0.5 Uncertain significance 0 -290182 Simple 140927945 T . Uncertain significance 2 2 not specified 2017-06-16 -0.6 0.5 Uncertain significance 0 -290192 Simple 376991799 G . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2016-12-29 -0.6 1.0 Uncertain significance 0 -290203 Simple 535699185 T . Uncertain significance 2 2 not specified 2017-04-19 -0.6 0.5 Uncertain significance 0 -290206 Simple 773782786 C . Benign 2 2 not specified 2017-03-21 -12.0 0.5 Benign/Likely benign 1 -290210 Simple 746220387 T . Uncertain significance 2 2 not specified 2016-11-25 -0.6 1.0 Uncertain significance 0 -290215 Simple 373418195 A . Uncertain significance 2 2 not specified 2017-02-15 -0.6 1.0 Uncertain significance 0 -290220 Simple 139384691 T . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2016-08-08 -0.6 1.0 Uncertain significance 0 -290225 Simple 372486238 T . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-04-27 -0.6 0.5 Uncertain significance 0 -290249 Simple 886044398 - . Pathogenic 2 2 Bethlem myopathy 1;Myopathy 2017-04-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -290259 Simple 886044901 A . Pathogenic 2 2 Emery-Dreifuss muscular dystrophy 1, X-linked;not provided 2016-09-23 12.0 1.0 Pathogenic/Likely pathogenic 1 -290266 Simple 377126280 A . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2016-10-14 -0.6 1.0 Uncertain significance 0 -290275 Simple 750155092 T . Uncertain significance 2 2 not specified 2017-03-27 -0.6 0.5 Uncertain significance 0 -290280 Simple 139701867 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified 2017-06-20 -0.6 0.5 Uncertain significance 0 -290288 Simple 751466306 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2D;not specified 2017-06-19 -0.6 0.5 Uncertain significance 0 -290291 Simple 886044414 - . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-13 -0.6 1.0 Uncertain significance 0 -290299 Simple 761221259 G . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-03-22 -0.6 0.5 Uncertain significance 0 -290305 Simple 369715210 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-03-08 -0.6 0.5 Uncertain significance 0 -290311 Simple 138778559 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-31 -0.6 0.5 Uncertain significance 0 -290322 Simple 142540289 T . Uncertain significance 2 4 GRACILE syndrome;Leigh syndrome;Mitochondrial complex III deficiency;not specified 2016-08-15 -1.2 1.0 Uncertain significance 0 -290323 Simple 201379032 A . Uncertain significance 2 2 Hydatidiform mole;not specified 2016-08-23 -0.6 1.0 Uncertain significance 0 -290325 Simple 777914761 A . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2016-12-05 -0.6 1.0 Uncertain significance 0 -290329 Simple 548449293 G . Uncertain significance 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2017-04-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -290334 Simple 886044427 C . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2A;not specified 2017-07-29 -0.6 0.5 Uncertain significance 0 -290341 Simple 774487338 CCCC . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-05-30 -15.0 0.75 Benign/Likely benign 0 -290351 Simple 370257707 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-16 -0.6 0.5 Uncertain significance 0 -290354 Simple 746919714 C . Uncertain significance 2 2 Dysferlinopathy;not specified 2017-04-07 -0.6 0.5 Uncertain significance 0 -290382 Simple 148185316 T . Uncertain significance 2 2 Sitosterolemia;not specified 2016-08-11 -0.6 1.0 Uncertain significance 0 -290423 Simple 886044449 - . Pathogenic/Likely pathogenic 2 2 Inclusion body myopathy 2 2016-09-06 8.7 1.5 Pathogenic/Likely pathogenic 0 -290432 Simple 778205727 A . Uncertain significance 2 2 not specified 2017-03-16 -0.6 0.5 Uncertain significance 0 -290443 Simple 766160589 CC . Pathogenic 2 2 Navajo neurohepatopathy;not provided 2016-08-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -290452 Simple 368367743 T . Uncertain significance 2 2 not specified 2017-04-03 -0.6 0.5 Uncertain significance 0 -290456 Simple 200745162 T . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.6 0.5 Uncertain significance 0 -290470 Simple 373068293 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-14 -0.6 0.5 Uncertain significance 0 -290472 Simple 545185154 G . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-25 -2.1 1.0 Uncertain significance 0 -290476 Simple 189341312 A . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -290479 Simple 558187116 T . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-01-06 -0.6 1.0 Uncertain significance 0 -290507 Simple 775881 T . Benign/Likely benign 2 2 Hydatidiform mole;not specified 2016-08-29 -9.0 1.0 Benign/Likely benign 0 -290514 Simple 778601377 A . Uncertain significance 2 2 not specified 2017-01-26 -0.6 1.0 Uncertain significance 0 -290523 Simple 886044476 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 1E;not specified 2017-05-01 -0.6 0.5 Uncertain significance 0 -290524 Simple 373940717 G . Uncertain significance 2 2 not specified 2018-01-18 -0.6 0.5 Uncertain significance 0 -290527 Simple 767905829 T . Uncertain significance 2 2 not specified 2017-01-24 -0.6 1.0 Uncertain significance 0 -290532 Simple 773358704 T . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 3B 2016-08-18 -0.6 1.0 Uncertain significance 0 -290575 Simple 143817389 G . Uncertain significance 2 2 Epidermolysis bullosa, junctional;not specified 2016-08-24 -0.6 1.0 Uncertain significance 0 -290582 Simple 141472847 A . Uncertain significance 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2016-08-25 -0.8999999999999999 1.0 Uncertain significance 0 -290593 Simple 778929049 A . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-01-24 -0.6 1.0 Uncertain significance 0 -290602 Simple 752358445 A . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2016-09-14 -0.6 1.0 Uncertain significance 0 -290603 Simple 771333733 G . Uncertain significance 2 4 not specified;Walker-Warburg congenital muscular dystrophy 2016-12-28 -1.17 1.25 Uncertain significance 0 -290625 Simple 753650776 - . Pathogenic/Likely pathogenic 2 2 Limb-girdle muscular dystrophy, type 2D 2016-09-21 9.0 1.0 Pathogenic/Likely pathogenic 0 -290630 Simple 756079906 G . Uncertain significance 2 2 not specified 2017-03-31 -0.6 0.5 Uncertain significance 0 -290631 Simple 886044514 A . Pathogenic/Likely pathogenic 2 2 Inclusion body myopathy 2;not provided 2016-08-23 8.7 1.5 Pathogenic/Likely pathogenic 0 -290651 Simple 201955391 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-15 -0.6 0.5 Uncertain significance 0 -290670 Simple 747583441 A . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-13 -0.8999999999999999 1.0 Uncertain significance 0 -290694 Simple 145419141 T . Uncertain significance 2 2 not specified 2016-12-30 -0.6 1.0 Uncertain significance 0 -290697 Simple 782410213 A . Uncertain significance 2 2 not specified 2017-10-23 -0.6 0.5 Uncertain significance 0 -290698 Simple 886044536 - . Pathogenic/Likely pathogenic 2 4 Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;not provided 2017-07-25 15.0 0.75 Pathogenic 1 -290700 Simple 886044537 T . Pathogenic 2 4 Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;not provided 2016-09-27 24.0 1.0 Pathogenic 0 -290701 Simple 767294741 C . Uncertain significance 2 2 not specified 2016-09-26 -0.6 1.0 Uncertain significance 0 -290707 Simple 750519430 A . Likely pathogenic 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type 2017-04-16 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -290711 Simple 376278449 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-12-25 -0.6 1.0 Uncertain significance 0 -290712 Simple 377244187 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-27 -0.6 0.5 Uncertain significance 0 -290715 Simple 373393733 T . Uncertain significance 2 2 not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-06 -0.6 1.0 Uncertain significance 0 -290720 Simple 768641489 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-02 -0.6 1.0 Uncertain significance 0 -290721 Simple 144482400 T . Likely benign 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-09-06 -9.0 1.0 Benign/Likely benign 1 -290722 Simple 111639540 A . Likely benign 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-09-06 -9.0 1.0 Benign/Likely benign 1 -290734 Simple 11541494 C . Benign/Likely benign 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2016-08-18 -12.0 1.0 Benign/Likely benign 0 -290737 Simple 200648405 A . Uncertain significance 2 2 Cone dystrophy 3;not specified 2016-09-14 -0.6 1.0 Uncertain significance 0 -290740 Simple 200706568 A . Uncertain significance 2 2 Cone dystrophy 3;not specified 2016-09-14 -0.6 1.0 Uncertain significance 0 -290745 Simple 770228554 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-08-18 -0.8999999999999999 1.0 Uncertain significance 0 -290750 Simple 147702169 A . Uncertain significance 2 2 not specified;Amelogenesis Imperfecta, Dominant 2016-08-26 -0.6 1.0 Uncertain significance 0 -290755 Simple 557407004 T . Uncertain significance 2 3 Dyggve-Melchior-Clausen syndrome;not specified;Smith-McCort dysplasia 2016-09-05 -0.8999999999999999 1.0 Uncertain significance 0 -290762 Simple 138878258 C . Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;not specified;Myasthenic syndrome, congenital, 17 2017-04-03 -6.0 0.5 Likely benign 0 -290764 Simple 775615484 A . Uncertain significance 2 2 Jeune thoracic dystrophy;not specified 2017-08-02 -0.6 0.5 Uncertain significance 0 -290768 Simple 142565472 T . Uncertain significance 2 2 not specified;Hereditary Multiple Osteochondromatosis 2016-09-01 -0.6 1.0 Uncertain significance 0 -290770 Simple 146950983 A . Uncertain significance 2 2 not specified 2017-03-02 -0.6 1.0 Uncertain significance 0 -290774 Simple 886044555 T . Pathogenic 2 2 Spondyloepiphyseal dysplasia congenita;not provided 2017-04-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -290775 Simple 140588417 C . Uncertain significance 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-09-15 -0.6 1.0 Uncertain significance 0 -290776 Simple 147451774 T . Uncertain significance 2 2 not specified;Hypophosphatemic Rickets, Recessive 2016-09-15 -0.6 1.0 Uncertain significance 0 -290794 Simple 886044558 T . Uncertain significance 2 2 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified 2017-06-29 -0.6 0.5 Uncertain significance 0 -290802 Simple 200507933 A . Uncertain significance 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-09-07 -0.6 1.0 Uncertain significance 0 -290830 Simple 56244420 G . Uncertain significance 2 2 not specified 2016-09-14 -0.6 1.0 Uncertain significance 0 -290834 Simple 138464908 G . Benign/Likely benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2016-09-01 -15.0 1.0 Benign/Likely benign 0 -290851 Simple 141862495 T . Uncertain significance 2 2 not specified;Familial Intrahepatic Cholestasis 2016-09-16 -0.6 1.0 Uncertain significance 0 -290869 Simple 139244736 G . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-03-24 -0.6 0.5 Uncertain significance 0 -290879 Simple 146573197 T . Uncertain significance 2 3 Autosomal recessive centronuclear myopathy;not specified 2017-06-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -290888 Simple 199814778 A . Likely benign 2 2 not specified;Neurodegeneration with brain iron accumulation 5 2017-06-06 -6.0 0.5 Likely benign 0 -290889 Simple 28364997 A . Uncertain significance 2 2 Infantile Parkinsonism-dystonia;not specified 2016-09-01 -0.6 1.0 Uncertain significance 0 -290898 Simple 200679577 C . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-08-26 -0.6 1.0 Uncertain significance 0 -290901 Simple 747110790 A . Uncertain significance 2 2 Familial hypoplastic, glomerulocystic kidney;not specified 2016-08-25 -0.6 1.0 Uncertain significance 0 -290903 Simple 199912631 T . Uncertain significance 2 2 Nephronophthisis;not specified 2017-08-15 -0.6 0.5 Uncertain significance 0 -290914 Simple 367594476 T . Uncertain significance 2 2 not specified 2016-12-05 -0.6 1.0 Uncertain significance 0 -290919 Simple 886044587 - . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 1C;Long QT syndrome 2016-08-24 12.0 1.0 Pathogenic/Likely pathogenic 1 -290920 Simple 886044588 A . Likely pathogenic 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not provided 2016-08-24 9.0 1.0 Pathogenic/Likely pathogenic 1 -290934 Simple 149923357 T . Benign/Likely benign 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-01-24 -9.0 1.0 Benign/Likely benign 0 -290937 Simple 146323303 A . Uncertain significance 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-08-26 -0.8999999999999999 1.0 Uncertain significance 0 -290953 Simple 144973796 T . Uncertain significance 2 2 Sitosterolemia;not specified 2016-08-26 -0.6 1.0 Uncertain significance 0 -290977 Simple 777183511 G . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-08-25 -0.6 1.0 Uncertain significance 0 -290985 Simple 55772253 A . Benign 2 3 Familial juvenile gout;Medullary cystic kidney disease 2;not specified;Uromodulin-associated kidney disease 2017-05-23 -18.0 0.6666666666666666 Benign/Likely benign 1 -291005 Simple 201753022 A . Uncertain significance 2 2 not specified 2017-08-24 -0.6 0.5 Uncertain significance 0 -291012 Simple 886044621 - . Pathogenic 2 2 Recessive dystrophic epidermolysis bullosa;not provided 2016-08-29 11.4 1.5 Pathogenic/Likely pathogenic 1 -291029 Simple 142896856 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-08-29 -0.6 1.0 Uncertain significance 0 -291036 Simple 560919408 A . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-09-23 -0.8999999999999999 1.0 Uncertain significance 0 -291060 Simple 534543454 C . Uncertain significance 2 2 not specified 2016-09-20 -0.6 1.0 Uncertain significance 0 -291064 Simple 528369909 G . Benign 2 2 Glycogen storage disease, type II;not specified 2017-07-14 -12.0 0.5 Benign/Likely benign 1 -291068 Simple 143610360 T . Benign 2 3 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-26 -18.0 0.6666666666666666 Benign/Likely benign 1 -291069 Simple 150622626 C . Uncertain significance 2 2 not specified 2017-03-21 -0.6 0.5 Uncertain significance 0 -291071 Simple 201191038 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-22 -0.8999999999999999 1.0 Uncertain significance 0 -291079 Simple 886044644 T . Uncertain significance 2 3 Bethlem myopathy 1;not specified 2017-04-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -291080 Simple 3809455 T . Benign 2 3 Focal segmental glomerulosclerosis;not specified 2016-09-06 -17.4 1.3333333333333333 Benign/Likely benign 1 -291085 Simple 201962705 G . Benign/Likely benign 2 4 not specified;not provided 2017-06-20 -18.0 0.75 Benign/Likely benign 0 -291095 Simple 151187637 A . Uncertain significance 2 3 Pseudoxanthoma elasticum;not specified;not provided 2017-06-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -291101 Simple 61747586 A . Benign/Likely benign 2 2 not specified 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -291105 Simple 202142404 A . Uncertain significance 2 5 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified 2017-06-13 -1.5 0.8 Uncertain significance 0 -291107 Simple 886044651 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-06-09 -0.6 0.5 Uncertain significance 0 -291117 Simple 368825354 C . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-07-07 -0.6 0.5 Uncertain significance 0 -291121 Simple 886044658 C . Uncertain significance 2 3 Duchenne muscular dystrophy;not specified 2017-08-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -291126 Simple 141948992 G . Uncertain significance 2 2 not specified 2017-07-31 -0.6 0.5 Uncertain significance 0 -291143 Simple 146290086 T . Uncertain significance 2 2 not specified 2017-03-28 -0.6 0.5 Uncertain significance 0 -291149 Simple 140419956 T . Uncertain significance 2 2 Autosomal recessive polycystic kidney disease;not specified 2016-09-06 -0.6 1.0 Uncertain significance 0 -291157 Simple 200407553 T . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-09-08 -0.8999999999999999 1.0 Uncertain significance 0 -291167 Simple 117390537 G . Uncertain significance 2 2 Inclusion body myopathy 3;not specified 2017-07-28 -0.6 0.5 Uncertain significance 0 -291177 Simple 2269365 T . Benign/Likely benign 2 2 Adrenoleukodystrophy;not specified 2016-09-20 -9.0 1.0 Benign/Likely benign 0 -291187 Simple 547659375 A . Benign/Likely benign 2 2 not specified 2016-09-23 -9.0 1.0 Benign/Likely benign 0 -291201 Simple 370178721 C . Uncertain significance 2 2 not specified 2017-10-06 -0.6 0.5 Uncertain significance 0 -291206 Simple 190759031 G . Benign 2 2 Limb-girdle muscular dystrophy, type 1F;not specified 2017-07-22 -12.0 0.5 Benign/Likely benign 1 -291226 Simple 780489910 T . Uncertain significance 2 2 not specified 2017-04-19 -0.6 0.5 Uncertain significance 0 -291236 Simple 897471 A . Benign 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-09-20 -18.0 1.0 Benign/Likely benign 1 -291239 Simple 886044697 - . Pathogenic/Likely pathogenic 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided 2016-11-15 9.0 1.0 Pathogenic/Likely pathogenic 0 -291252 Simple 375315619 C . Uncertain significance 2 2 not specified;not provided 2016-10-25 -0.6 1.0 Uncertain significance 0 -291264 Simple 34754243 A . Uncertain significance 2 2 Sitosterolemia;not specified 2016-09-21 -0.6 1.0 Uncertain significance 0 -291269 Simple 80031446 A . Benign 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-05-24 -12.0 0.5 Benign/Likely benign 1 -291279 Simple 199781957 G . Uncertain significance 2 2 Zellweger syndrome;not specified 2016-09-23 -0.6 1.0 Uncertain significance 0 -291283 Simple 371480628 A . Uncertain significance 2 2 not specified;not provided 2017-07-07 -0.6 0.5 Uncertain significance 0 -291324 Simple 147024351 G . Uncertain significance 2 2 Glycogen storage disease type III 2017-06-20 -0.6 0.5 Uncertain significance 0 -291337 Simple 139950099 T . Uncertain significance 2 2 Glycogen storage disease type III;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -291338 Simple 761479006 C . Uncertain significance 2 2 Glycogen storage disease type III 2017-06-19 -0.6 0.5 Uncertain significance 0 -291468 Simple 114084418 C . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-08-04 -15.0 0.75 Benign/Likely benign 0 -291491 Simple 190728953 C . Likely benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2017-05-17 -12.0 0.75 Benign/Likely benign 1 -291505 Simple 200496207 T . Uncertain significance 2 4 Marshall syndrome;Fibrochondrogenesis;not provided;Stickler Syndrome, Dominant 2016-10-31 -1.2 1.0 Uncertain significance 0 -291517 Simple 370589018 T . Uncertain significance 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2017-03-21 -1.2 0.75 Uncertain significance 0 -291522 Simple 17034660 A . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-08-10 -15.0 0.75 Benign/Likely benign 0 -291531 Simple 565657269 - . Benign 2 4 Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant 2017-08-16 -24.0 0.75 Benign 0 -291563 Simple 150831576 T . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-04-04 -15.0 0.75 Benign/Likely benign 0 -291566 Simple 149566646 G . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-06-16 -15.0 0.75 Benign/Likely benign 0 -291567 Simple 2297881 G . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-08-10 -15.0 0.75 Benign/Likely benign 0 -291575 Simple 114266141 C . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-07-30 -15.0 0.75 Benign/Likely benign 0 -291577 Simple 116089798 C . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-02-01 -15.0 1.0 Benign/Likely benign 0 -291582 Simple 145969842 A . Uncertain significance 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2016-12-04 -1.2 1.0 Uncertain significance 0 -291583 Simple 72867431 T . Benign/Likely benign 2 4 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-08-10 -15.0 0.75 Benign/Likely benign 0 -291678 Simple 35046754 A . Benign/Likely benign 2 2 Zellweger syndrome;Peroxisome biogenesis disorder, complementation group K 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -291698 Simple 35520362 T . Benign/Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -291707 Simple 772372530 - . Pathogenic 2 2 not provided;GPSM2-Related Disorders 2016-06-14 12.0 1.0 Pathogenic/Likely pathogenic 1 -291734 Simple 61730366 C . Benign/Likely benign 2 3 Frontotemporal dementia;not specified;Amyotrophic Lateral Sclerosis, Dominant 2017-07-25 -12.0 0.6666666666666666 Benign/Likely benign 0 -291740 Simple 148325203 G . Benign/Likely benign 2 3 Frontotemporal dementia;not specified;Amyotrophic Lateral Sclerosis, Dominant 2017-02-13 -12.0 1.0 Benign/Likely benign 0 -291781 Simple 1782455 A . Benign 2 4 Frontotemporal dementia;MASP2 deficiency;not specified;Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 -24.0 1.0 Benign 0 -291786 Simple 12711521 A . Benign 2 2 MASP2 deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -291916 Simple 58047463 GG . Benign/Likely benign 2 2 not specified;Hyperinsulinism, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -291990 Simple 147763877 C . Uncertain significance 2 2 Congenital sensory neuropathy with selective loss of small myelinated fibers;not specified 2017-05-15 -0.6 0.5 Uncertain significance 0 -291994 Simple 6325 T . Benign/Likely benign 2 2 Congenital sensory neuropathy with selective loss of small myelinated fibers 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -292128 Simple 771188512 T . Uncertain significance 2 2 Catecholaminergic polymorphic ventricular tachycardia 2017-05-01 -0.6 0.5 Uncertain significance 0 -292132 Simple 375598471 T . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-11-22 -0.6 1.0 Uncertain significance 0 -292238 Simple 2066462 A . Benign/Likely benign 2 2 Neural tube defects, folate-sensitive;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -292246 Simple 2066470 A . Benign/Likely benign 2 2 Neural tube defects, folate-sensitive;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -292279 Simple 146092290 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient 2016-11-30 -0.6 1.0 Uncertain significance 0 -292281 Simple 140227667 A . Likely benign 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2017-06-29 -6.0 0.5 Likely benign 0 -292283 Simple 35958757 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -292287 Simple 536503346 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2017-10-20 -0.6 0.5 Uncertain significance 0 -292291 Simple 763409574 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2016-11-29 -0.6 1.0 Uncertain significance 0 -292330 Simple 142776952 T . Benign/Likely benign 2 2 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -292369 Simple 140094248 A . Likely benign 2 3 not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -292370 Simple 373679523 T . Likely benign 2 3 not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -292430 Simple 7540883 C . Benign/Likely benign 2 2 Hemochromatosis type 2A;Juvenile hemochromatosis 2017-05-04 -9.0 0.5 Benign/Likely benign 0 -292449 Simple 2232191 A . Benign/Likely benign 2 2 Atrial standstill 1;Atrial fibrillation, familial, 11;Familial atrial fibrillation 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -292612 Simple 2233854 C . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -292618 Simple 2233843 T . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -292768 Simple 376867928 T . Benign/Likely benign 2 2 Symmetrical dyschromatosis of extremities;Aicardi-goutieres syndrome 6 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -292781 Simple 34154757 A . Likely benign 2 2 Symmetrical dyschromatosis of extremities;not provided 2017-06-12 -6.0 0.5 Likely benign 0 -292782 Simple 201143561 T . Likely benign 2 2 Symmetrical dyschromatosis of extremities;Aicardi-goutieres syndrome 6 2017-06-15 -6.0 0.5 Likely benign 0 -292835 Simple 886045364 A . Uncertain significance 2 13 Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;Familial partial lipodystrophy;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-29 -3.9 0.9230769230769231 Uncertain significance 0 -292839 Simple 375516745 A . Benign/Likely benign 2 13 Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;Familial partial lipodystrophy;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -41.4 1.0769230769230769 Benign 1 -292874 Simple 80026148 T . Benign/Likely benign 2 3 Hereditary insensitivity to pain with anhidrosis;not specified 2017-06-07 -14.4 1.0 Benign/Likely benign 0 -292881 Simple 200132482 A . Uncertain significance 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-03-30 -0.6 0.5 Uncertain significance 0 -292886 Simple 56320207 A . Benign/Likely benign 2 3 Hereditary insensitivity to pain with anhidrosis;not specified 2017-06-28 -14.4 1.0 Benign/Likely benign 0 -292889 Simple 6334 A . Benign 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -292893 Simple 6338 T . Benign/Likely benign 2 2 Hereditary insensitivity to pain with anhidrosis 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -292897 Simple 55668752 A . Benign/Likely benign 2 4 Hereditary insensitivity to pain with anhidrosis;not specified 2017-07-17 -21.0 0.75 Benign/Likely benign 0 -292908 Simple 77373944 T . Benign/Likely benign 2 3 Hereditary pancreatitis;not specified 2017-07-12 -15.0 0.6666666666666666 Benign/Likely benign 0 -292913 Simple 75971387 A . Benign/Likely benign 2 3 Hereditary pancreatitis;not specified 2017-07-12 -15.0 0.6666666666666666 Benign/Likely benign 0 -292946 Simple 5778083 AA . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-11 -15.0 0.75 Benign/Likely benign 0 -292949 Simple 767955754 - . Benign/Likely benign 2 4 Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive 2017-04-17 -15.0 0.75 Benign/Likely benign 0 -293120 Simple 540341763 G . Uncertain significance 2 4 Pendred's syndrome;not specified;Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome;Nonsyndromic Hearing Loss, Mixed 2017-08-17 -1.2 0.75 Uncertain significance 0 -293372 Simple 149507401 A . Uncertain significance 2 2 not provided;Spondyloepimetaphyseal dysplasia 2017-04-28 -0.6 0.5 Uncertain significance 0 -293409 Simple 35586310 C . Benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-05-30 -12.0 0.5 Benign/Likely benign 1 -293411 Simple 55869078 T . Benign/Likely benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-02-14 -9.0 1.0 Benign/Likely benign 0 -293415 Simple 2230598 C . Benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-05-30 -12.0 0.5 Benign/Likely benign 1 -293418 Simple 56043737 A . Benign/Likely benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-04-04 -9.0 0.5 Benign/Likely benign 0 -293419 Simple 55655135 T . Benign/Likely benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-03-03 -9.0 1.0 Benign/Likely benign 0 -293420 Simple 34021505 G . Benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-05-30 -12.0 0.5 Benign/Likely benign 1 -293426 Simple 61731097 T . Benign/Likely benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -293431 Simple 35676629 A . Benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-05-30 -12.0 0.5 Benign/Likely benign 1 -293436 Simple 113173342 A . Benign/Likely benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-02-14 -9.0 1.0 Benign/Likely benign 0 -293443 Simple 201175373 A . Likely benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-02-06 -6.0 1.0 Likely benign 0 -293450 Simple 147977279 C . Benign/Likely benign 2 2 Cataract 6, multiple types;Age-related cortical cataract 2017-03-03 -9.0 1.0 Benign/Likely benign 0 -293639 Simple 201510575 C . Uncertain significance 2 6 Factor V deficiency;Thrombophilia;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;not specified 2017-09-08 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -293709 Simple 61730974 G . Benign/Likely benign 2 3 Primary open angle glaucoma;not specified;Glaucoma 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -293729 Simple 61756244 A . Benign 2 2 Autoimmune lymphoproliferative syndrome 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -293762 Simple 189334432 A . Uncertain significance 2 2 Parkinson disease 9;not provided 2017-02-28 -0.6 1.0 Uncertain significance 0 -293771 Simple 377431904 T . Uncertain significance 2 2 Parkinson disease 9;Spastic paraplegia 78, autosomal recessive 2017-07-10 -0.6 0.5 Uncertain significance 0 -293793 Simple 149372969 C . Uncertain significance 2 2 Parkinson disease 9;Spastic paraplegia 78, autosomal recessive 2017-08-04 -0.6 0.5 Uncertain significance 0 -293809 Simple 201728852 A . Likely benign 2 3 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-01-23 -9.0 1.0 Benign/Likely benign 1 -293816 Simple 775350144 C . Uncertain significance 2 4 Gastrointestinal stromal tumor;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-07-27 -1.2 0.75 Uncertain significance 0 -293817 Simple 143031690 G . Likely benign 2 3 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;not specified 2017-10-13 -9.0 0.6666666666666666 Benign/Likely benign 1 -293857 Simple 146664099 A . Uncertain significance 2 2 not specified;Combined Pituitary Hormone Deficiency, Dominant 2017-10-30 -0.6 0.5 Uncertain significance 0 -294080 Simple 145229115 T . Uncertain significance 2 2 Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;Chronic granulomatous disease 2017-07-11 -0.6 0.5 Uncertain significance 0 -294084 Simple 115365142 T . Uncertain significance 2 2 Chronic granulomatous disease;not specified 2016-07-26 -0.6 1.0 Uncertain significance 0 -294365 Simple 61749348 A . Benign/Likely benign 2 2 Deficiency of pyrroline-5-carboxylate reductase;Hyperprolinemia;Hyperprolinemia 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -294366 Simple 6695033 C . Benign/Likely benign 2 2 Deficiency of pyrroline-5-carboxylate reductase;Hyperprolinemia;Hyperprolinemia 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -294372 Simple 149414160 G . Uncertain significance 2 2 Hyperprolinemia;not provided;Hyperprolinemia 2017-04-30 -0.6 0.5 Uncertain significance 0 -294603 Simple 142024644 A . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-07-05 -0.6 1.0 Uncertain significance 0 -294639 Simple 143805893 A . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-09-22 -0.6 1.0 Uncertain significance 0 -294676 Simple 150412614 A . Likely benign 2 4 Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -294677 Simple 151104285 T . Benign/Likely benign 2 4 Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -294705 Simple 149547196 A . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-05 -15.0 0.5 Benign/Likely benign 0 -294706 Simple 200765341 G . Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis 2016-11-14 -9.0 1.0 Benign/Likely benign 1 -294716 Simple 533353353 T . Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis 2017-07-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -294721 Simple 886045796 T . Uncertain significance 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-04-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -294723 Simple 13376324 C . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-04 -15.0 0.75 Benign/Likely benign 0 -294729 Simple 148870919 T . Uncertain significance 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-10-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -294736 Simple 140453525 T . Likely benign 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-11-01 -9.0 1.0 Benign/Likely benign 1 -294738 Simple 143483718 A . Benign/Likely benign 2 4 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-27 -18.0 0.75 Benign/Likely benign 0 -294741 Simple 34374418 A . Benign/Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis 2016-11-12 -12.0 1.0 Benign/Likely benign 0 -294745 Simple 376863448 A . Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis 2017-04-18 -9.0 0.6666666666666666 Benign/Likely benign 1 -294750 Simple 368564115 A . Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis 2017-05-03 -9.0 0.6666666666666666 Benign/Likely benign 1 -294757 Simple 200165212 A . Benign/Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis 2016-08-12 -12.0 1.0 Benign/Likely benign 0 -294761 Simple 4915212 T . Benign/Likely benign 2 5 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-07-24 -20.7 0.8 Benign/Likely benign 0 -294765 Simple 189129662 A . Benign/Likely benign 2 3 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis 2017-06-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -294767 Simple 35521793 A . Uncertain significance 2 3 Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2016-12-01 -0.8999999999999999 1.0 Uncertain significance 0 -294782 Simple 144218745 A . Benign/Likely benign 2 5 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified 2017-08-23 -18.0 0.4 Benign/Likely benign 0 -294894 Simple 763204242 T . Uncertain significance 2 5 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-01-16 -1.5 1.0 Uncertain significance 0 -294999 Simple 148871409 T . Benign/Likely benign 2 3 Parkinson disease 6, autosomal recessive early-onset;not specified;Parkinson Disease, Recessive 2017-04-27 -14.4 1.0 Benign/Likely benign 0 -295114 Simple 6692016 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified;Parkinson Disease, Recessive 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -295156 Simple 4704 A . Benign 2 3 Congenital disorder of glycosylation;not specified;Parkinson Disease, Recessive 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -295215 Simple 2235377 C . Benign 2 4 Popliteal pterygium syndrome;Van der Woude syndrome;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant 2017-01-05 -24.0 1.0 Benign 0 -295257 Simple 200585050 C . Uncertain significance 2 2 Leber congenital amaurosis;not provided 2017-04-26 -0.6 0.5 Uncertain significance 0 -295315 Simple 41296694 T . Uncertain significance 2 2 Posterior column ataxia with retinitis pigmentosa;not specified 2017-03-28 -0.6 0.5 Uncertain significance 0 -295317 Simple 41296696 C . Uncertain significance 2 2 Posterior column ataxia with retinitis pigmentosa;not specified 2017-03-08 -0.6 0.5 Uncertain significance 0 -295319 Simple 41297444 A . Uncertain significance 2 2 Posterior column ataxia with retinitis pigmentosa;not specified 2017-03-07 -0.6 0.5 Uncertain significance 0 -295326 Simple 149887215 G . Uncertain significance 2 2 Posterior column ataxia with retinitis pigmentosa;not specified 2016-12-19 -0.6 1.0 Uncertain significance 0 -295490 Simple 764028978 A . Uncertain significance 2 2 Holt-Oram syndrome;Loeys-Dietz syndrome 2017-07-09 -0.6 0.5 Uncertain significance 0 -295542 Simple 140167865 A . Uncertain significance 2 2 Hypophosphatasia;not specified 2016-11-07 -0.6 1.0 Uncertain significance 0 -295543 Simple 35423948 - . Benign/Likely benign 2 2 Hypophosphatasia;not specified 2017-01-25 -9.0 1.0 Benign/Likely benign 0 -295552 Simple 34810399 A . Likely benign 2 2 Hypophosphatasia;not provided 2017-08-31 -6.0 0.5 Likely benign 0 -295644 Simple 144779240 C . Uncertain significance 2 3 Martsolf syndrome;Warburg micro syndrome 2;Warburg micro syndrome 2017-01-19 -0.8999999999999999 1.0 Uncertain significance 0 -295714 Simple 77527456 T . Likely benign 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -295725 Simple 149159881 A . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2017-01-30 -0.8999999999999999 1.0 Uncertain significance 0 -295751 Simple 139500146 C . Benign/Likely benign 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -295756 Simple 149644947 G . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-11-23 -0.8999999999999999 1.0 Uncertain significance 0 -295764 Simple 2229491 C . Benign/Likely benign 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-11-10 -12.0 1.0 Benign/Likely benign 0 -295765 Simple 2229489 T . Benign/Likely benign 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-11-10 -12.0 1.0 Benign/Likely benign 0 -295806 Simple 145091234 T . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2017-04-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -295815 Simple 116788687 C . Benign/Likely benign 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -295819 Simple 777591903 A . Uncertain significance 2 4 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2017-06-16 -1.2 0.75 Uncertain significance 0 -295880 Simple 149094407 A . Uncertain significance 2 3 Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia 2017-04-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -295968 Simple 112610798 A . Benign/Likely benign 2 2 Left-right axis malformations;Heterotaxy syndrome 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -296108 Simple 518686 T . Benign 2 2 Rhizomelic chondrodysplasia punctata;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -296128 Simple 35033351 T . Benign/Likely benign 2 2 Rhizomelic chondrodysplasia punctata;not specified 2016-08-01 -9.0 1.0 Benign/Likely benign 0 -296183 Simple 61734647 A . Benign/Likely benign 2 2 Erythrocytosis, familial, 3;Familial erythrocytosis 2017-05-03 -9.0 0.5 Benign/Likely benign 0 -296186 Simple 143991968 A . Benign/Likely benign 2 2 Erythrocytosis, familial, 3;Familial erythrocytosis 2017-07-13 -9.0 0.5 Benign/Likely benign 0 -296195 Simple 555121182 A . Benign/Likely benign 2 2 Erythrocytosis, familial, 3;Familial erythrocytosis 2017-05-11 -9.0 0.5 Benign/Likely benign 0 -296273 Simple 61752093 - . Pathogenic 2 3 Zellweger syndrome;Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B 2016-08-16 18.0 1.0 Pathogenic 0 -296362 Simple 199672291 T . Uncertain significance 2 2 Chédiak-Higashi syndrome;not specified 2017-05-22 -0.6 0.5 Uncertain significance 0 -296381 Simple 201821563 T . Uncertain significance 2 2 Chédiak-Higashi syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -296408 Simple 150636017 C . Uncertain significance 2 2 Chédiak-Higashi syndrome;not specified 2017-05-10 -0.6 0.5 Uncertain significance 0 -296498 Simple 758034866 A . Uncertain significance 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-05-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -296507 Simple 769453411 T . Uncertain significance 2 3 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-06-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -296546 Simple 183719210 C . Uncertain significance 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-12-07 -0.6 1.0 Uncertain significance 0 -296550 Simple 184332230 A . Likely benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2017-01-04 -6.0 1.0 Likely benign 0 -296556 Simple 2229274 A . Benign/Likely benign 2 3 Disorders of Intracellular Cobalamin Metabolism;not specified 2017-03-17 -14.4 1.0 Benign/Likely benign 0 -296561 Simple 144777709 A . Uncertain significance 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-12-28 -0.6 1.0 Uncertain significance 0 -296568 Simple 142250261 T . Uncertain significance 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2017-09-15 -0.6 0.5 Uncertain significance 0 -296577 Simple 117061132 T . Benign/Likely benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-11-30 -9.0 1.0 Benign/Likely benign 0 -296578 Simple 61736326 A . Benign/Likely benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -296579 Simple 12030699 T . Benign 2 3 METHYLCOBALAMIN DEFICIENCY, cblG TYPE;Disorders of Intracellular Cobalamin Metabolism;not specified 2017-07-31 -18.0 0.6666666666666666 Benign/Likely benign 1 -296583 Simple 41530146 A . Benign/Likely benign 2 3 METHYLCOBALAMIN DEFICIENCY, cblG TYPE;Disorders of Intracellular Cobalamin Metabolism;not specified 2017-06-16 -14.4 1.0 Benign/Likely benign 0 -296707 Simple 771173251 C . Uncertain significance 2 3 Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -296724 Simple 776046135 G . Uncertain significance 2 3 Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-04-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -296764 Simple 371157286 A . Uncertain significance 2 3 Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -296815 Simple 139286202 T . Benign/Likely benign 2 2 Diamond-Blackfan anemia 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -296821 Simple 8880 T . Benign/Likely benign 2 2 Diamond-Blackfan anemia 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -296855 Simple 115611440 T . Benign/Likely benign 2 2 Deficiency of hydroxymethylglutaryl-CoA lyase;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -296865 Simple 144131869 GAGA . Uncertain significance 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 -1.2 1.0 Uncertain significance 0 -296866 Simple 144131869 GAGAGAGA . Uncertain significance 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 -1.2 1.0 Uncertain significance 0 -296874 Simple 374529177 A . Likely benign 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -296875 Simple 886046319 C . Uncertain significance 2 4 Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas 2016-09-15 -1.2 1.0 Uncertain significance 0 -296885 Simple 114490852 A . Benign/Likely benign 2 2 Fucosidosis 2017-05-23 -9.0 0.5 Benign/Likely benign 0 -296895 Simple 61996282 G . Benign/Likely benign 2 3 Fucosidosis;not provided 2017-08-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -296904 Simple 146474568 A . Uncertain significance 2 3 Bardet-Biedl syndrome;Senior-Loken syndrome 7;Renal dysplasia and retinal aplasia;Bardet-Biedl syndrome 16 2017-06-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -296908 Simple 150070966 T . Uncertain significance 2 3 Bardet-Biedl syndrome;Renal dysplasia and retinal aplasia;not specified 2017-07-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -296939 Simple 763252989 G . Uncertain significance 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2017-03-14 -1.2 0.75 Uncertain significance 0 -296941 Simple 577522959 A . Likely benign 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-12-01 -12.0 1.0 Benign/Likely benign 1 -296942 Simple 192297357 A . Likely benign 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not provided;Familial cold autoinflammatory syndrome 2017-08-10 -12.0 0.75 Benign/Likely benign 1 -296945 Simple 138613962 A . Likely benign 2 4 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome 2016-10-31 -12.0 1.0 Benign/Likely benign 1 -296975 Simple 139877665 A . Uncertain significance 2 2 Familial hypercholesterolemia;not specified 2017-07-20 -0.6 0.5 Uncertain significance 0 -296979 Simple 148916767 T . Uncertain significance 2 2 Hypercholesterolemia, autosomal recessive;Familial hypercholesterolemia 2016-06-14 -0.6 1.0 Uncertain significance 0 -296982 Simple 6687605 C . Benign 2 2 Familial hypercholesterolemia;not specified 2016-09-28 -12.0 1.0 Benign/Likely benign 1 -296984 Simple 28969504 G . Benign 2 2 Familial hypercholesterolemia;not specified 2016-09-28 -12.0 1.0 Benign/Likely benign 1 -297023 Simple 200958015 A . Uncertain significance 2 3 Eichsfeld type congenital muscular dystrophy;not specified;SEPN1-Related Disorders 2017-05-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -297116 Simple 142192097 G . Uncertain significance 2 3 not specified;not provided;Hyperphosphatasia with Intellectual Disability Syndrome 2017-05-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -297149 Simple 151227410 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, dominant intermediate C;Charcot-Marie-Tooth, Intermediate 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -297151 Simple 699005 G . Benign 2 3 Charcot-Marie-Tooth disease, dominant intermediate C;not specified;Charcot-Marie-Tooth, Intermediate 2017-05-31 -17.4 1.0 Benign/Likely benign 1 -297154 Simple 138454151 T . Likely benign 2 2 not specified;Charcot-Marie-Tooth, Intermediate 2016-12-02 -6.0 1.0 Likely benign 0 -297162 Simple 143712443 T . Likely benign 2 2 not specified;Charcot-Marie-Tooth, Intermediate 2016-06-14 -6.0 1.0 Likely benign 0 -297163 Simple 72654020 A . Benign 2 2 not specified;Charcot-Marie-Tooth, Intermediate 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -297293 Simple 528002132 C . Uncertain significance 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2016-12-19 -0.8999999999999999 1.0 Uncertain significance 0 -297297 Simple 373264436 C . Uncertain significance 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2017-03-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -297299 Simple 368209124 A . Uncertain significance 2 3 Multiple Epiphyseal Dysplasia, Dominant;not provided;Stickler Syndrome, Recessive 2016-08-31 -0.8999999999999999 1.0 Uncertain significance 0 -297301 Simple 370682522 A . Uncertain significance 2 3 Multiple Epiphyseal Dysplasia, Dominant;not specified;Stickler Syndrome, Recessive 2017-10-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -297302 Simple 375476174 C . Uncertain significance 2 3 Multiple epiphyseal dysplasia 2;Multiple Epiphyseal Dysplasia, Dominant;Stickler syndrome, type 5;not specified;Stickler Syndrome, Recessive 2017-05-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -297379 Simple 550156548 C . Likely benign 2 3 Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -297381 Simple 76672402 C . Uncertain significance 2 3 Dystonia;not specified;Glucose transporter type 1 deficiency syndrome 2016-08-17 -0.8999999999999999 1.0 Uncertain significance 0 -297399 Simple 17572791 C . Benign/Likely benign 2 3 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia 2017-05-23 -12.0 0.6666666666666666 Benign/Likely benign 0 -297410 Simple 200460456 A . Benign/Likely benign 2 3 Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia 2017-05-12 -12.0 0.6666666666666666 Benign/Likely benign 0 -297609 Simple 113493395 C . Benign/Likely benign 2 2 Carnitine palmitoyltransferase II deficiency 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -297701 Simple 28362262 T . Benign/Likely benign 2 4 Hypercholesterolemia, autosomal dominant, 3;Familial hypobetalipoproteinemia;Familial hypercholesterolemia 2017-06-19 -18.0 0.5 Benign/Likely benign 0 -297706 Simple 72646530 A . Uncertain significance 2 2 Hypercholesterolemia, autosomal dominant, 3;Familial hypercholesterolemia 2016-12-16 -0.6 1.0 Uncertain significance 0 -297707 Simple 775077080 G . Uncertain significance 2 3 Hypercholesterolemia, autosomal dominant, 3;Familial hypobetalipoproteinemia;Familial hypercholesterolemia 2016-12-16 -0.8999999999999999 1.0 Uncertain significance 0 -297823 Simple 117898549 C . Uncertain significance 2 3 Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2017-07-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -297871 Simple 855314 G . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -297872 Simple 1126727 C . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -297874 Simple 1126728 T . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -297883 Simple 72922609 G . Benign/Likely benign 2 4 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2017-07-07 -18.0 0.75 Benign/Likely benign 0 -297885 Simple 11208257 C . Benign 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -297886 Simple 72922610 T . Benign/Likely benign 2 4 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2017-07-07 -18.0 0.75 Benign/Likely benign 0 -297890 Simple 2269238 T . Benign 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -297891 Simple 61737416 T . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -297892 Simple 6676290 A . Benign/Likely benign 2 4 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2017-07-07 -17.4 1.0 Benign/Likely benign 0 -297893 Simple 115864084 T . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1t 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -297940 Simple 761000380 T . Uncertain significance 2 2 Distal spinal muscular atrophy, autosomal recessive 4;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy 2017-08-04 -0.6 0.5 Uncertain significance 0 -297941 Simple 200162521 A . Uncertain significance 2 2 not specified;Distal spinal muscular atrophy 2017-08-11 -0.6 0.5 Uncertain significance 0 -297967 Simple 114275646 T . Benign/Likely benign 2 3 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy 2017-06-01 -14.4 1.0 Benign/Likely benign 0 -297972 Simple 150772386 T . Benign/Likely benign 2 3 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy 2017-06-23 -15.0 0.6666666666666666 Benign/Likely benign 0 -297975 Simple 117505788 G . Benign/Likely benign 2 4 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy 2017-08-04 -21.0 0.75 Benign/Likely benign 0 -297979 Simple 114209691 A . Benign/Likely benign 2 3 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy 2017-08-09 -14.4 1.0 Benign/Likely benign 0 -297997 Simple 142647085 G . Uncertain significance 2 3 Leptin receptor deficiency;Monogenic Non-Syndromic Obesity;Monogenic diabetes 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -298000 Simple 1805096 A . Benign 2 3 Leptin receptor deficiency;not specified;Monogenic Non-Syndromic Obesity 2017-07-26 -18.0 0.6666666666666666 Benign/Likely benign 1 -298003 Simple 145685060 C . Uncertain significance 2 3 Leptin receptor deficiency;Monogenic Non-Syndromic Obesity;Monogenic diabetes 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -298121 Simple 11548937 T . Benign/Likely benign 2 2 Parkinson disease 7;Parkinson Disease, Recessive 2016-11-26 -9.0 1.0 Benign/Likely benign 0 -298148 Simple 201467961 C . Likely benign 2 2 Glomuvenous malformations;not provided 2017-08-03 -6.0 0.5 Likely benign 0 -298181 Simple 371078453 AGAGAGAGAGAGAGAGAGAGAGAGAGAG . Uncertain significance 2 2 Severe congenital neutropenia 2, autosomal dominant;Severe congenital neutropenia 2017-07-05 -0.6 0.5 Uncertain significance 0 -298188 Simple 114487177 A . Benign/Likely benign 2 2 Severe congenital neutropenia 2, autosomal dominant;Severe congenital neutropenia 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -298235 Simple 138831474 T . Uncertain significance 2 5 not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-11-30 -1.5 1.0 Uncertain significance 0 -298240 Simple 145766145 T . Likely benign 2 5 not specified;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2016-06-14 -14.7 1.2 Benign/Likely benign 1 -298262 Simple 770439859 C . Uncertain significance 2 5 not specified;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive 2017-08-07 -1.5 0.8 Uncertain significance 0 -298287 Simple 777425216 T . Uncertain significance 2 2 Dihydropyrimidine dehydrogenase deficiency;not specified 2017-09-21 -0.6 0.5 Uncertain significance 0 -298504 Simple 886046632 T . Uncertain significance 2 5 not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2016-06-14 -1.5 1.0 Uncertain significance 0 -298539 Simple 768227529 GCCGCC . Uncertain significance 2 2 not specified;Split-Hand/Foot Malformation 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -298554 Simple 199816481 T . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;not provided 2017-02-15 -9.0 1.0 Benign/Likely benign 0 -298626 Simple 61754263 T . Uncertain significance 2 2 Congenital adrenal hyperplasia;not specified 2017-04-13 -0.6 0.5 Uncertain significance 0 -298713 Simple 752317971 A . Pathogenic/Likely pathogenic 2 2 Epidermolysis bullosa, junctional;not provided 2016-06-14 8.4 1.5 Pathogenic/Likely pathogenic 0 -298769 Simple 200848781 G . Benign/Likely benign 2 2 not specified;Cornelia de Lange Syndrome 2016-09-15 -9.0 1.0 Benign/Likely benign 0 -298955 Simple 140594879 T . Likely benign 2 4 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-01-16 -12.0 1.0 Benign/Likely benign 1 -298958 Simple 144034433 A . Likely benign 2 3 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-07 -9.0 0.6666666666666666 Benign/Likely benign 1 -298963 Simple 759348679 G . Uncertain significance 2 4 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant 2017-07-25 -1.2 0.75 Uncertain significance 0 -298991 Simple 1047057 A . Benign 2 10 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;Craniosynostosis 2016-06-14 -59.4 1.1 Benign 0 -298997 Simple 61731218 C . Benign/Likely benign 2 10 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;Craniosynostosis;FGFR2 related craniosynostosis 2016-12-19 -33.0 1.0 Benign 1 -299016 Simple 41258305 C . Benign 2 10 Acrocephalosyndactyly type I;Cutis Gyrata syndrome of Beare and Stevenson;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Crouzon syndrome;Saethre-Chotzen syndrome;Isolated coronal synostosis;not specified;Craniosynostosis 2016-06-14 -60.0 1.0 Benign 0 -299044 Simple 369149111 T . Benign/Likely benign 2 3 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Macular degeneration 2017-05-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -299052 Simple 11538140 T . Benign/Likely benign 2 2 not specified;Macular degeneration 2016-06-14 -7.2 2.5 Likely benign 1 -299091 Simple 748926593 C . Uncertain significance 2 2 Deficiency of 2-methylbutyryl-CoA dehydrogenase 2017-04-03 -0.6 0.5 Uncertain significance 0 -299250 Simple 201979258 T . Uncertain significance 2 2 Phytanic acid storage disease;not specified 2016-07-13 -0.6 1.0 Uncertain significance 0 -299251 Simple 143957922 C . Uncertain significance 2 2 Phytanic acid storage disease;not provided 2017-01-31 -0.6 1.0 Uncertain significance 0 -299253 Simple 751660253 T . Uncertain significance 2 2 Phytanic acid storage disease;not specified 2017-02-16 -0.6 1.0 Uncertain significance 0 -299316 Simple 41299658 T . Uncertain significance 2 2 Severe combined immunodeficiency with sensitivity to ionizing radiation;Histiocytic medullary reticulosis 2017-07-25 -0.6 0.5 Uncertain significance 0 -299319 Simple 374596045 A . Uncertain significance 2 2 Histiocytic medullary reticulosis;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -299362 Simple 7898873 C . Benign 2 2 not specified;Megaloblastic anemia 2017-05-29 -12.0 0.5 Benign/Likely benign 1 -299364 Simple 1801230 A . Benign/Likely benign 2 2 Megaloblastic anemia due to inborn errors of metabolism;Megaloblastic anemia 2017-06-21 -9.0 0.5 Benign/Likely benign 0 -299368 Simple 767333853 C . Uncertain significance 2 2 not specified;Megaloblastic anemia 2017-01-10 -0.6 1.0 Uncertain significance 0 -299371 Simple 146027947 T . Benign/Likely benign 2 2 Megaloblastic anemia due to inborn errors of metabolism;Megaloblastic anemia 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -299389 Simple 1801239 C . Benign/Likely benign 2 2 not specified;Megaloblastic anemia 2016-10-14 -9.0 1.0 Benign/Likely benign 0 -299391 Simple 562374248 A . Uncertain significance 2 2 not specified;Megaloblastic anemia 2017-08-24 -0.6 0.5 Uncertain significance 0 -299395 Simple 45551835 A . Benign/Likely benign 2 2 Megaloblastic anemia due to inborn errors of metabolism;Megaloblastic anemia 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -299419 Simple 3740168 C . Benign/Likely benign 2 2 Megaloblastic anemia due to inborn errors of metabolism;Megaloblastic anemia 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -299434 Simple 2271460 C . Benign/Likely benign 2 2 Megaloblastic anemia due to inborn errors of metabolism;Megaloblastic anemia 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -299454 Simple 147617753 T . Uncertain significance 2 2 not specified;Megaloblastic anemia 2017-05-18 -0.6 0.5 Uncertain significance 0 -299465 Simple 61841454 A . Benign/Likely benign 2 2 not specified;Megaloblastic anemia 2017-05-29 -9.0 0.5 Benign/Likely benign 0 -299474 Simple 141640975 A . Uncertain significance 2 2 not specified;Megaloblastic anemia 2016-08-08 -0.6 1.0 Uncertain significance 0 -299499 Simple 78549445 G . Benign/Likely benign 2 3 Megaloblastic anemia due to inborn errors of metabolism;not specified;Megaloblastic anemia 2017-05-23 -15.0 0.6666666666666666 Benign/Likely benign 0 -299511 Simple 7905349 A . Benign 2 2 not specified;Megaloblastic anemia 2017-05-29 -12.0 0.5 Benign/Likely benign 1 -299560 Simple 147857449 C . Benign/Likely benign 2 2 Brugada syndrome 4;Brugada syndrome 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -299563 Simple 111250176 T . Uncertain significance 2 2 Brugada syndrome 4;Brugada syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -299566 Simple 34503140 C . Benign/Likely benign 2 2 Brugada syndrome 4;Brugada syndrome 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -299567 Simple 546669133 T . Uncertain significance 2 2 Brugada syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -299886 Simple 764938319 A . Uncertain significance 2 5 Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2017-06-19 -1.5 0.8 Uncertain significance 0 -299887 Simple 200468424 A . Likely benign 2 6 Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -299894 Simple 543376293 G . Uncertain significance 2 5 Pheochromocytoma;Renal adysplasia;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2016-06-14 -1.5 1.0 Uncertain significance 0 -299901 Simple 745650861 A . Uncertain significance 2 5 Pheochromocytoma;Renal adysplasia;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant 2016-06-14 -1.5 1.0 Uncertain significance 0 -299988 Simple 139299230 C . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2017-07-06 -0.6 0.5 Uncertain significance 0 -300041 Simple 2229761 G . Likely benign 2 4 Cockayne syndrome;not provided;Macular degeneration;Cerebrooculofacioskeletal Syndrome 2017-05-30 -12.0 0.75 Benign/Likely benign 1 -300148 Simple 930507 C . Benign/Likely benign 2 2 Mannose-binding protein deficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -300251 Simple 12722698 A . Benign/Likely benign 2 2 Interleukin 2 receptor, alpha, deficiency of 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -300259 Simple 11256369 G . Benign 2 2 Interleukin 2 receptor, alpha, deficiency of;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -300261 Simple 2228150 T . Benign/Likely benign 2 3 Interleukin 2 receptor, alpha, deficiency of;not specified 2017-08-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -300279 Simple 144217451 C . Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 1 2016-06-14 -5.7 1.5 Likely benign 0 -300280 Simple 114201658 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type I;not specified;Charcot-Marie-Tooth, Type 1 2017-07-17 -15.0 0.6666666666666666 Benign/Likely benign 0 -300305 Simple 77151171 A . Benign/Likely benign 2 3 Visceral heterotaxy 5, autosomal;Heterotaxy syndrome;Holoprosencephaly 2017-05-10 -12.0 0.6666666666666666 Benign/Likely benign 0 -300310 Simple 138195571 A . Benign/Likely benign 2 3 Visceral heterotaxy 5, autosomal;Heterotaxy syndrome;Holoprosencephaly 2017-05-10 -12.0 0.6666666666666666 Benign/Likely benign 0 -300347 Simple 200188190 T . Uncertain significance 2 2 Hyperphenylalaninemia, BH4-deficient, D;BH4-Deficient Hyperphenylalaninemia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -300357 Simple 7083031 G . Benign/Likely benign 2 2 Histiocytosis-lymphadenopathy plus syndrome 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -300358 Simple 77626641 T . Benign/Likely benign 2 2 Histiocytosis-lymphadenopathy plus syndrome 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -300360 Simple 143557881 T . Benign/Likely benign 2 2 Histiocytosis-lymphadenopathy plus syndrome 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -300361 Simple 150879861 C . Benign/Likely benign 2 2 Histiocytosis-lymphadenopathy plus syndrome 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -300395 Simple 377387074 - . Benign/Likely benign 2 4 Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive 2017-11-12 -15.0 0.75 Benign/Likely benign 0 -300415 Simple 368496658 T . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-09-08 -1.2 1.0 Uncertain significance 0 -300451 Simple 376414352 G . Uncertain significance 2 4 Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive 2016-11-30 -1.2 1.0 Uncertain significance 0 -300783 Simple 760340545 A . Uncertain significance 2 2 Dilated cardiomyopathy 1W;Dilated Cardiomyopathy, Dominant 2016-07-15 -0.6 1.0 Uncertain significance 0 -300786 Simple 148619523 T . Uncertain significance 2 2 Dilated cardiomyopathy 1W;Familial hypertrophic cardiomyopathy 15;Dilated Cardiomyopathy, Dominant 2017-08-04 -0.6 0.5 Uncertain significance 0 -300856 Simple 41314998 T . Benign/Likely benign 2 2 not specified;KAT6B-Related Spectrum Disorders 2016-11-18 -9.0 1.0 Benign/Likely benign 0 -300881 Simple 182978198 G . Benign/Likely benign 2 2 not provided;KAT6B-Related Spectrum Disorders 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -300893 Simple 72803461 A . Benign/Likely benign 2 2 not specified;KAT6B-Related Spectrum Disorders 2016-11-18 -9.0 1.0 Benign/Likely benign 0 -300969 Simple 79713097 A . Benign/Likely benign 2 2 Generalized epilepsy and paroxysmal dyskinesia 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -300971 Simple 200420124 G . Uncertain significance 2 2 Generalized epilepsy and paroxysmal dyskinesia 2017-04-12 -0.6 0.5 Uncertain significance 0 -301046 Simple 146861723 T . Uncertain significance 2 2 not specified;Pol III-related leukodystrophy 2017-06-16 -0.6 0.5 Uncertain significance 0 -301068 Simple 56214655 A . Likely benign 2 2 not provided;Pol III-related leukodystrophy 2017-08-11 -6.0 0.5 Likely benign 0 -301091 Simple 185722293 G . Likely benign 2 3 Diamond-Blackfan anemia;not specified;Pol III-related leukodystrophy 2017-02-07 -9.0 1.0 Benign/Likely benign 1 -301093 Simple 6496 G . Benign/Likely benign 2 2 Diamond-Blackfan anemia 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -301097 Simple 7899453 A . Benign 2 3 Diamond-Blackfan anemia;not specified 2017-07-26 -18.0 0.6666666666666666 Benign/Likely benign 1 -301233 Simple 146588811 T . Uncertain significance 2 2 not provided;Cone-Rod Dystrophy, Recessive 2016-08-31 -0.6 1.0 Uncertain significance 0 -301235 Simple 140621272 A . Uncertain significance 2 2 not provided;Cone-Rod Dystrophy, Recessive 2017-03-31 -0.6 0.5 Uncertain significance 0 -301244 Simple 199567321 C . Uncertain significance 2 2 not specified;Cone-Rod Dystrophy, Recessive 2017-05-12 -0.6 0.5 Uncertain significance 0 -301352 Simple 55763614 G . Benign/Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-08-21 -21.0 0.75 Benign/Likely benign 0 -301353 Simple 376651641 G . Uncertain significance 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2017-10-05 -1.5 0.2 Uncertain significance 0 -301422 Simple 886047396 - . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;not specified 2016-07-22 -0.6 1.0 Uncertain significance 0 -301508 Simple 111265233 T . Benign/Likely benign 2 4 Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome;Thoracic aortic aneurysm and aortic dissection;Moyamoya disease 2017-08-15 -15.0 0.75 Benign/Likely benign 0 -301520 Simple 5030766 G . Benign/Likely benign 2 5 Autoimmune lymphoproliferative syndrome;Multisystemic smooth muscle dysfunction syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Moyamoya disease 2016-06-14 -20.4 1.2 Benign/Likely benign 0 -301524 Simple 9333296 C . Likely benign 2 2 Autoimmune lymphoproliferative syndrome;not specified 2017-01-09 -6.0 1.0 Likely benign 0 -301525 Simple 3218621 A . Benign 2 3 Autoimmune lymphoproliferative syndrome;not specified 2017-07-26 -17.4 1.0 Benign/Likely benign 1 -301530 Simple 28362322 G . Likely benign 2 2 Autoimmune lymphoproliferative syndrome;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -301576 Simple 147493628 A . Uncertain significance 2 3 Wolman disease;not specified 2017-02-10 -0.8999999999999999 1.0 Uncertain significance 0 -301609 Simple 188706671 G . Uncertain significance 2 2 ANKRD1-related dilated cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-04-24 -0.6 0.5 Uncertain significance 0 -301699 Simple 61751493 T . Uncertain significance 2 2 not provided;Nephrotic syndrome 2017-08-30 -0.6 0.5 Uncertain significance 0 -301757 Simple 760203992 A . Uncertain significance 2 2 Cutis laxa, recessive;not specified 2017-02-22 -0.6 1.0 Uncertain significance 0 -301761 Simple 1804934 A . Benign/Likely benign 2 3 Cutis laxa-corneal clouding-oligophrenia syndrome;Spastic paraplegia 9;Cutis laxa, recessive;not specified;Cutis laxa, autosomal dominant 3 2017-08-02 -15.0 0.6666666666666666 Benign/Likely benign 0 -301762 Simple 11541780 A . Benign/Likely benign 2 3 Cutis laxa-corneal clouding-oligophrenia syndrome;Spastic paraplegia 9;Cutis laxa, recessive;not specified;Cutis laxa, autosomal dominant 3 2017-08-08 -15.0 0.6666666666666666 Benign/Likely benign 0 -301767 Simple 117709404 A . Benign/Likely benign 2 3 Cutis laxa-corneal clouding-oligophrenia syndrome;Spastic paraplegia 9;Cutis laxa, recessive;not specified;Cutis laxa, autosomal dominant 3 2017-07-26 -12.0 0.6666666666666666 Benign/Likely benign 0 -301770 Simple 3765571 T . Benign/Likely benign 2 3 Cutis laxa-corneal clouding-oligophrenia syndrome;Spastic paraplegia 9;Cutis laxa, recessive;not specified;Cutis laxa, autosomal dominant 3 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -301828 Simple 112316490 T . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2017-04-03 -9.0 0.5 Benign/Likely benign 0 -301829 Simple 34979921 G . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2016-07-01 -9.0 1.0 Benign/Likely benign 0 -301929 Simple 200263159 G . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-01-23 -12.0 1.0 Benign/Likely benign 0 -301995 Simple 17301028 T . Benign/Likely benign 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-01-19 -24.0 1.0 Benign 1 -302004 Simple 116666272 G . Benign/Likely benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-04-19 -18.0 0.75 Benign/Likely benign 0 -302005 Simple 12146610 T . Benign/Likely benign 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-12-05 -24.0 1.0 Benign 1 -302008 Simple 17301182 T . Benign/Likely benign 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -302010 Simple 116888435 G . Benign/Likely benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-06-21 -17.4 1.0 Benign/Likely benign 0 -302011 Simple 142881106 A . Uncertain significance 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-05-23 -1.2 0.5 Uncertain significance 0 -302013 Simple 17099969 A . Benign/Likely benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-07-28 -18.0 0.75 Benign/Likely benign 0 -302018 Simple 77738279 A . Benign/Likely benign 2 5 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-06-29 -24.0 0.8 Benign 1 -302022 Simple 150786504 C . Benign/Likely benign 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-09-20 -12.0 1.0 Benign/Likely benign 0 -302025 Simple 201043335 T . Uncertain significance 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-08-01 -0.8999999999999999 1.0 Uncertain significance 0 -302031 Simple 17301750 G . Benign/Likely benign 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -302033 Simple 74713170 T . Benign/Likely benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-08-08 -18.0 0.75 Benign/Likely benign 0 -302048 Simple 11225578 G . Benign/Likely benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 0 -302049 Simple 199541807 A . Uncertain significance 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-12-13 -0.8999999999999999 1.0 Uncertain significance 0 -302053 Simple 201003494 A . Uncertain significance 2 3 Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome 2017-05-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -302054 Simple 11225584 C . Benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -24.0 1.0 Benign 0 -302056 Simple 658804 G . Benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -302060 Simple 116574613 A . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome 2017-04-20 -12.0 0.6666666666666666 Benign/Likely benign 0 -302063 Simple 115273161 A . Benign/Likely benign 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-09-14 -12.0 1.0 Benign/Likely benign 0 -302066 Simple 765998830 T . Uncertain significance 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-06-26 -1.2 0.5 Uncertain significance 0 -302070 Simple 184910011 C . Uncertain significance 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-12-14 -0.8999999999999999 1.0 Uncertain significance 0 -302072 Simple 17394217 G . Benign/Likely benign 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -302073 Simple 589623 A . Benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -302080 Simple 78309870 A . Benign/Likely benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2017-04-20 -18.0 0.75 Benign/Likely benign 0 -302088 Simple 11225634 G . Benign 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -302091 Simple 75143468 G . Benign/Likely benign 2 3 Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome 2017-04-20 -12.0 0.6666666666666666 Benign/Likely benign 0 -302096 Simple 12574626 A . Benign 2 3 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -302107 Simple 10895391 T . Benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -24.0 1.0 Benign 0 -302117 Simple 2566913 C . Benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -302120 Simple 10895417 A . Benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -302124 Simple 11225812 T . Benign/Likely benign 2 4 Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 0 -302244 Simple 886047610 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome 2017-04-16 -0.6 0.5 Uncertain significance 0 -302246 Simple 755237639 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-02 -0.87 1.3333333333333333 Uncertain significance 0 -302248 Simple 776581499 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-06-21 -0.6 1.0 Uncertain significance 0 -302250 Simple 571989748 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-06-14 -0.6 1.0 Uncertain significance 0 -302253 Simple 757328753 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome 2016-06-14 -0.6 1.0 Uncertain significance 0 -302254 Simple 886047614 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-17 -0.6 0.5 Uncertain significance 0 -302433 Simple 376222434 A . Benign/Likely benign 2 4 Alpha-B crystallinopathy;not specified;Posterior polar cataract;Myofibrillar Myopathy, Dominant 2017-01-05 -15.0 1.0 Benign/Likely benign 0 -302482 Simple 200671534 A . Uncertain significance 2 3 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-04-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -302499 Simple 59731976 C . Benign/Likely benign 2 3 6-pyruvoyl-tetrahydropterin synthase deficiency;not specified 2017-04-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -302539 Simple 4252250 G . Benign/Likely benign 2 2 Inflammatory bowel disease 28, autosomal recessive;Inflammatory bowel disease 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -302546 Simple 2256111 G . Benign 2 2 not specified;Inflammatory bowel disease 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -302553 Simple 2229115 T . Benign/Likely benign 2 2 Inflammatory bowel disease 28, autosomal recessive;Inflammatory bowel disease 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -302554 Simple 2229113 G . Benign 2 2 not specified;Inflammatory bowel disease 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -302556 Simple 2229114 T . Benign/Likely benign 2 2 Inflammatory bowel disease 28, autosomal recessive;Inflammatory bowel disease 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -302659 Simple 1126924 T . Benign 2 2 not specified;Severe Combined Immune Deficiency 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -302684 Simple 3753059 C . Benign/Likely benign 2 2 Immunodeficiency due to defect in CD3-gamma;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -302685 Simple 3753058 T . Benign/Likely benign 2 2 Immunodeficiency due to defect in CD3-gamma;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -302751 Simple 375679649 T . Uncertain significance 2 4 Congenital disorder of glycosylation type 1J;Congenital disorder of glycosylation;not specified;Congenital myasthenic syndrome 13;not provided 2017-04-19 -1.2 0.75 Uncertain significance 0 -302776 Simple 767162260 G . Uncertain significance 2 2 Rasopathy;Noonan-Like Syndrome Disorder 2016-11-11 -0.6 1.0 Uncertain significance 0 -302782 Simple 558577411 G . Benign/Likely benign 2 2 Rasopathy;Noonan-Like Syndrome Disorder 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -302787 Simple 886047772 TGGTGG . Uncertain significance 2 2 Rasopathy;Noonan-Like Syndrome Disorder 2016-08-06 -0.6 1.0 Uncertain significance 0 -302958 Simple 142198552 C . Uncertain significance 2 3 Microphthalmia, isolated 6;Retinal degeneration;not specified;Retinal degeneration 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -303229 Simple 200451819 T . Uncertain significance 2 2 Gaze palsy, familial horizontal, with progressive scoliosis;not specified 2017-03-06 -0.6 0.5 Uncertain significance 0 -303504 Simple 145983470 C . Likely benign 2 2 not provided;Holoprosencephaly 2017-05-09 -6.0 0.5 Likely benign 0 -303511 Simple 756054017 C . Uncertain significance 2 2 Holoprosencephaly 11;Holoprosencephaly 2017-06-16 -0.6 0.5 Uncertain significance 0 -303516 Simple 76247998 T . Benign/Likely benign 2 2 Holoprosencephaly 11;Holoprosencephaly 2017-01-31 -9.0 1.0 Benign/Likely benign 0 -303523 Simple 7122277 C . Benign/Likely benign 2 2 Holoprosencephaly 11;Holoprosencephaly 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -303627 Simple 146853795 T . Benign/Likely benign 2 3 Romano-Ward syndrome;not specified;Familial hyperaldosteronism 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -303680 Simple 77368661 C . Benign/Likely benign 2 2 Deficiency of isobutyryl-CoA dehydrogenase 2016-12-26 -9.0 1.0 Benign/Likely benign 0 -303756 Simple 138141427 A . Likely benign 2 5 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2017-02-06 -15.0 1.0 Benign/Likely benign 1 -303762 Simple 144207158 T . Likely benign 2 4 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-08-09 -12.0 1.0 Benign/Likely benign 1 -303764 Simple 182340196 T . Likely benign 2 4 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -303788 Simple 764107333 A . Uncertain significance 2 4 Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive 2016-06-14 -1.17 1.25 Uncertain significance 0 -303898 Simple 147053126 T . Uncertain significance 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -303912 Simple 6498 A . Benign/Likely benign 2 2 Glycogen storage disease XI;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -303914 Simple 4687 T . Benign 2 2 Glycogen storage disease XI;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -303915 Simple 4820 G . Benign 2 2 Glycogen storage disease XI;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -303951 Simple 886048096 T . Uncertain significance 2 3 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-04-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -303954 Simple 746707959 A . Uncertain significance 2 3 not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-03-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -303999 Simple 12364685 G . Likely benign 2 2 Hyperekplexia;not provided 2016-09-12 -6.0 1.0 Likely benign 0 -304001 Simple 61736602 A . Benign/Likely benign 2 2 Hyperekplexia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -304066 Simple 3842724 A . Benign/Likely benign 2 4 Segawa syndrome, autosomal recessive;Dystonia;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant/Recessive 2017-07-29 -15.0 0.75 Benign/Likely benign 0 -304069 Simple 36097848 T . Benign/Likely benign 2 4 Segawa syndrome, autosomal recessive;Dystonia;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant/Recessive 2016-11-28 -15.0 1.0 Benign/Likely benign 0 -304073 Simple 11826260 A . Benign/Likely benign 2 3 Segawa syndrome, autosomal recessive;not specified;Dystonia 2017-06-10 -15.0 0.3333333333333333 Benign/Likely benign 0 -304079 Simple 376881948 T . Uncertain significance 2 2 Segawa syndrome, autosomal recessive;not provided 2017-01-31 -0.6 1.0 Uncertain significance 0 -304100 Simple 143078257 A . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -304109 Simple 751028884 G . Uncertain significance 2 3 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -304219 Simple 554518844 T . Benign/Likely benign 2 6 short QT syndrome;Long QT syndrome;Romano-Ward syndrome;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome 2016-11-18 -21.0 1.0 Benign/Likely benign 0 -304359 Simple 114384476 T . Benign/Likely benign 2 9 Aniridia 1;Foveal hypoplasia and presenile cataract syndrome;Keratitis, hereditary;Irido-corneo-trabecular dysgenesis;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;Anophthalmia;Aniridia;Peters anomaly;Aniridia, Cerebellar Ataxia, And Intellectual Disability 2017-07-28 -32.4 1.0 Benign 1 -304421 Simple 778673400 T . Uncertain significance 2 5 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;WAGR syndrome;WILMS TUMOR 2016-12-05 -1.5 1.0 Uncertain significance 0 -304429 Simple 776954184 C . Uncertain significance 2 5 Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;WAGR syndrome;WILMS TUMOR 2016-07-08 -1.5 1.0 Uncertain significance 0 -304505 Simple 4151034 A . Benign/Likely benign 2 3 Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;Severe Combined Immune Deficiency 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -304576 Simple 35455466 T . Benign/Likely benign 2 2 not specified;Hereditary Multiple Osteochondromatosis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -304577 Simple 148121594 C . Benign/Likely benign 2 2 Multiple exostoses type 2;Hereditary Multiple Osteochondromatosis 2017-05-26 -9.0 0.5 Benign/Likely benign 0 -304582 Simple 35436405 T . Benign/Likely benign 2 2 not specified;Hereditary Multiple Osteochondromatosis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -304585 Simple 11828047 C . Benign/Likely benign 2 3 Multiple exostoses type 2;not provided;Hereditary Multiple Osteochondromatosis 2017-08-07 -12.0 0.3333333333333333 Benign/Likely benign 0 -304783 Simple 79435202 G . Likely benign 2 2 Zellweger syndrome;not provided 2017-03-10 -6.0 0.5 Likely benign 0 -304788 Simple 35214605 G . Benign/Likely benign 2 2 Zellweger syndrome;Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -304849 Simple 117936904 T . Benign/Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -304854 Simple 74806847 A . Benign/Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2016-11-18 -9.0 1.0 Benign/Likely benign 0 -304863 Simple 61733844 T . Benign/Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2017-06-13 -9.0 0.5 Benign/Likely benign 0 -304873 Simple 61742871 C . Uncertain significance 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2017-06-20 -0.6 0.5 Uncertain significance 0 -304883 Simple 61741501 T . Benign/Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -304886 Simple 72897663 G . Benign/Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -304890 Simple 118009068 A . Benign/Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -304892 Simple 7926667 G . Benign/Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -304895 Simple 879721 T . Benign/Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -304905 Simple 61742974 C . Benign/Likely benign 2 2 Syndactyly Cenani Lenz type;Sclerosteosis 2;Myasthenic syndrome, congenital, 17 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -304973 Simple 140996453 T . Uncertain significance 2 3 Pena-Shokeir syndrome type I;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive 2017-06-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -305026 Simple 35788383 T . Benign/Likely benign 2 2 not specified;Hereditary Angioedema 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -305031 Simple 2867802 A . Benign/Likely benign 2 2 Intrinsic factor deficiency 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -305165 Simple 141629524 A . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Dominant 2017-08-10 -0.6 0.5 Uncertain significance 0 -305176 Simple 370926100 A . Benign/Likely benign 2 4 Berardinelli-Seip congenital lipodystrophy;Charcot-Marie-Tooth disease, type 2;Neurologic Disorders/Seipinopathy;not specified 2017-07-21 -15.0 0.5 Benign/Likely benign 0 -305177 Simple 185341934 A . Benign/Likely benign 2 5 Berardinelli-Seip congenital lipodystrophy;Charcot-Marie-Tooth disease, type 2;Neurologic Disorders/Seipinopathy;not specified;not provided 2017-09-06 -21.0 0.4 Benign/Likely benign 0 -305185 Simple 201493373 A . Likely benign 2 3 Berardinelli-Seip congenital lipodystrophy;Neurologic Disorders/Seipinopathy;not specified 2017-02-20 -9.0 1.0 Benign/Likely benign 1 -305271 Simple 568496266 G . Uncertain significance 2 2 Glycogen storage disease, type V;not specified 2016-10-20 -0.6 1.0 Uncertain significance 0 -305277 Simple 558267822 A . Uncertain significance 2 2 Glycogen storage disease, type V;not specified 2017-09-07 -0.6 0.5 Uncertain significance 0 -305315 Simple 541476418 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hyperparathyroidism;Multiple endocrine neoplasia 2017-10-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -305317 Simple 679946 A . Benign/Likely benign 2 3 not specified;Hyperparathyroidism;Multiple endocrine neoplasia 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -305318 Simple 679946 G . Benign/Likely benign 2 3 not specified;Hyperparathyroidism;Multiple endocrine neoplasia 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -305363 Simple 141875736 - . Benign/Likely benign 2 3 Aicardi Goutieres syndrome 3;Aicardi Goutieres syndrome;not specified 2017-06-16 -14.4 1.0 Benign/Likely benign 0 -305364 Simple 200659526 C . Uncertain significance 2 2 Aicardi Goutieres syndrome;not provided 2017-05-19 -0.6 0.5 Uncertain significance 0 -305382 Simple 766172211 T . Uncertain significance 2 2 Cutis laxa, recessive;not specified 2017-07-11 -0.6 0.5 Uncertain significance 0 -305388 Simple 2303384 T . Benign 2 2 Cutis laxa, recessive;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -305523 Simple 61741217 T . Benign/Likely benign 2 2 Spinocerebellar ataxia 5;Spinocerebellar Ataxia, Dominant 2017-06-12 -9.0 0.5 Benign/Likely benign 0 -305538 Simple 764407421 T . Uncertain significance 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-08-28 -0.6 0.5 Uncertain significance 0 -305546 Simple 35532855 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -305547 Simple 623022 A . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -305553 Simple 639938 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -305563 Simple 114788199 C . Benign/Likely benign 2 2 Spinocerebellar ataxia 5;Spinocerebellar Ataxia, Dominant 2017-06-19 -9.0 0.5 Benign/Likely benign 0 -305598 Simple 150610657 C . Uncertain significance 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-08-28 -0.6 0.5 Uncertain significance 0 -305599 Simple 34117933 A . Benign/Likely benign 2 2 Spinocerebellar ataxia 5;Spinocerebellar Ataxia, Dominant 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -305601 Simple 78309877 T . Benign/Likely benign 2 2 Spinocerebellar ataxia 5;Spinocerebellar Ataxia, Dominant 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -305723 Simple 79662690 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Familial Isolated Pituitary Adenomas 2017-03-30 -6.0 0.5 Likely benign 0 -305724 Simple 116940576 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Familial Isolated Pituitary Adenomas 2017-03-31 -6.0 0.5 Likely benign 0 -305728 Simple 2276020 T . Benign 2 2 Hereditary cancer-predisposing syndrome;Familial Isolated Pituitary Adenomas 2016-12-13 -12.0 1.0 Benign/Likely benign 1 -305731 Simple 147351993 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Familial Isolated Pituitary Adenomas 2017-03-09 -6.0 0.5 Likely benign 0 -305732 Simple 35665586 A . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome;Familial Isolated Pituitary Adenomas 2016-12-27 -9.0 1.0 Benign/Likely benign 0 -305747 Simple 142982022 A . Uncertain significance 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2017-08-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -305755 Simple 142050639 A . Uncertain significance 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not provided 2016-07-31 -0.8999999999999999 1.0 Uncertain significance 0 -305782 Simple 36027301 T . Benign/Likely benign 2 2 not specified;Osteopetrosis 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -305820 Simple 199973759 TGGGCCTGGGCC . Benign/Likely benign 2 2 not provided;Osteopetrosis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -305828 Simple 117368938 A . Benign/Likely benign 2 2 Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -305830 Simple 199586231 G . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-08-09 -0.6 0.5 Uncertain significance 0 -305838 Simple 139635469 A . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-07 -0.6 0.5 Uncertain significance 0 -305841 Simple 149045005 T . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-08-04 -0.6 0.5 Uncertain significance 0 -305846 Simple 61731907 A . Uncertain significance 2 3 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-02-02 -0.8999999999999999 1.0 Uncertain significance 0 -305852 Simple 11228414 G . Benign/Likely benign 2 4 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-07-17 -21.0 0.75 Benign/Likely benign 0 -305858 Simple 372629862 A . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-29 -0.6 0.5 Uncertain significance 0 -305860 Simple 368584364 A . Uncertain significance 2 2 Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy 2017-03-13 -0.6 0.5 Uncertain significance 0 -305861 Simple 145945230 A . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S 2017-07-20 -0.6 0.5 Uncertain significance 0 -305952 Simple 199506852 A . Uncertain significance 2 2 Smith-Lemli-Opitz syndrome;not specified 2016-10-31 -0.6 1.0 Uncertain significance 0 -305954 Simple 567600444 A . Uncertain significance 2 2 Smith-Lemli-Opitz syndrome;not specified 2016-12-23 -0.6 1.0 Uncertain significance 0 -306139 Simple 11302 G . Likely benign 2 2 Deficiency of transaldolase;not provided 2016-10-11 -6.0 1.0 Likely benign 0 -306294 Simple 200683247 G . Uncertain significance 2 2 Neutral lipid storage disease with myopathy 2017-06-14 -0.6 0.5 Uncertain significance 0 -306308 Simple 201573098 T . Uncertain significance 2 2 Neutral lipid storage disease with myopathy 2016-11-18 -0.6 1.0 Uncertain significance 0 -306407 Simple 61735303 A . Benign/Likely benign 2 2 not specified;Familial exudative vitreoretinopathy 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -306492 Simple 142727857 C . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-10-04 -0.6 0.5 Uncertain significance 0 -306495 Simple 587782030 T . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2016-08-26 -0.6 1.0 Uncertain significance 0 -306535 Simple 76784113 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -306536 Simple 61735577 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 4B1;Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-08-07 -15.0 0.3333333333333333 Benign/Likely benign 0 -306538 Simple 61735578 G . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 4B1;Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-08-07 -15.0 0.3333333333333333 Benign/Likely benign 0 -306544 Simple 142155860 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-05-23 -9.0 0.5 Benign/Likely benign 0 -306580 Simple 775360425 C . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 4 2016-06-14 -0.6 1.0 Uncertain significance 0 -306582 Simple 79251068 C . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-07-17 -15.0 0.6666666666666666 Benign/Likely benign 0 -306583 Simple 141108330 A . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-07-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -306587 Simple 16907139 G . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-06-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -306592 Simple 74642088 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -306598 Simple 753921188 C . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-09-13 -0.6 0.5 Uncertain significance 0 -306600 Simple 145199888 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-05-12 -0.6 0.5 Uncertain significance 0 -306602 Simple 7102464 T . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -306615 Simple 61736907 A . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-06-19 -12.0 0.6666666666666666 Benign/Likely benign 0 -306722 Simple 112788142 A . Benign 2 2 Distal arthrogryposis;not provided 2017-04-13 -12.0 0.5 Benign/Likely benign 1 -306905 Simple 70961704 T . Benign/Likely benign 2 2 Insulin-like growth factor I deficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -306977 Simple 76391872 G . Benign/Likely benign 2 2 Immunodeficiency with hyper IgM type 5;Immunodeficiency with Hyper-IgM 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -306978 Simple 769188214 C . Uncertain significance 2 2 not specified;Immunodeficiency with Hyper-IgM 2017-07-07 -0.6 0.5 Uncertain significance 0 -307124 Simple 375633647 A . Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2016-09-01 -23.7 1.125 Benign/Likely benign 1 -307125 Simple 200602134 A . Likely benign 2 7 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-02-13 -21.0 1.0 Benign/Likely benign 1 -307126 Simple 200602134 C . Likely benign 2 7 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2016-06-14 -20.7 1.1428571428571428 Benign/Likely benign 1 -307136 Simple 116401333 A . Benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-08-04 -47.4 1.0 Benign 0 -307137 Simple 143548402 T . Likely benign 2 7 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2016-07-16 -21.0 1.0 Benign/Likely benign 1 -307140 Simple 141908793 T . Benign/Likely benign 2 8 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-07-25 -29.4 1.0 Benign 1 -307141 Simple 77680510 A . Likely benign 2 7 Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia 2017-01-12 -21.0 1.0 Benign/Likely benign 1 -307158 Simple 201929640 G . Likely benign 2 3 Keratosis follicularis;not specified 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -307159 Simple 3026434 G . Benign/Likely benign 2 2 Keratosis follicularis;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -307165 Simple 55984131 G . Benign/Likely benign 2 3 Keratosis follicularis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -307183 Simple 149324360 G . Benign/Likely benign 2 2 Keratosis follicularis;not specified 2017-03-29 -9.0 0.5 Benign/Likely benign 0 -307226 Simple 576405446 A . Benign 3 4 Metachondromatosis;Noonan syndrome with multiple lentigines;Noonan syndrome;Rasopathy 2017-04-18 -7.5 0.75 Likely benign 2 -307378 Simple 142592809 A . Benign/Likely benign 2 2 Ulnar-mammary syndrome 2017-02-15 -9.0 1.0 Benign/Likely benign 0 -307417 Simple 35909818 G . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type 2L;Distal hereditary motor neuronopathy;Charcot-Marie-Tooth, Type 2 2017-05-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -307418 Simple 74740454 C . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 2L;Distal hereditary motor neuronopathy;Charcot-Marie-Tooth, Type 2 2017-05-24 -12.0 0.6666666666666666 Benign/Likely benign 0 -307419 Simple 112052602 T . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type 2L;not specified;Distal hereditary motor neuronopathy;Charcot-Marie-Tooth, Type 2 2017-08-09 -23.4 0.8 Benign/Likely benign 0 -307478 Simple 36023382 A . Benign/Likely benign 2 3 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency;4-Hydroxyphenylpyruvate dioxygenase deficiency;Hypertyrosinemia 2017-05-25 -12.0 0.6666666666666666 Benign/Likely benign 0 -307485 Simple 140788110 T . Benign 2 3 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency;4-Hydroxyphenylpyruvate dioxygenase deficiency;Hypertyrosinemia 2017-08-04 -18.0 0.6666666666666666 Benign/Likely benign 1 -307548 Simple 146698907 G . Uncertain significance 2 3 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-07-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -307578 Simple 144499089 T . Uncertain significance 2 3 Cutis laxa, recessive;not specified 2017-04-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -307580 Simple 143802431 T . Uncertain significance 2 3 Cutis laxa, recessive;not specified 2017-05-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -307581 Simple 73420336 A . Benign/Likely benign 2 2 Cutis laxa, recessive;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -307585 Simple 115569365 C . Benign/Likely benign 2 2 Cutis laxa, recessive;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -307586 Simple 372416067 T . Uncertain significance 2 2 Cutis laxa, recessive;not specified 2017-11-07 -0.6 0.5 Uncertain significance 0 -307593 Simple 73420342 A . Benign/Likely benign 2 2 Cutis laxa, recessive;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -307658 Simple 34330 C . Benign 2 2 not specified;Multiple endocrine neoplasia 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -307662 Simple 140167393 T . Likely benign 2 2 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia 2017-07-20 -6.0 0.5 Likely benign 0 -307663 Simple 2066827 A . Likely benign 2 2 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia 2017-02-02 -6.0 1.0 Likely benign 0 -307667 Simple 36101844 T . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia 2017-07-09 -9.0 0.5 Benign/Likely benign 0 -307738 Simple 769147604 T . Uncertain significance 2 2 not specified;Intellectual Disability, Dominant 2017-10-31 -0.6 0.5 Uncertain significance 0 -307741 Simple 886049099 T . Uncertain significance 2 2 not specified;Intellectual Disability, Dominant 2016-07-22 -0.6 1.0 Uncertain significance 0 -307896 Simple 60140950 C . Benign/Likely benign 2 2 Rotor syndrome;not specified 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -307914 Simple 60571683 A . Benign/Likely benign 2 2 Rotor syndrome;not specified 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -307936 Simple 11045818 A . Benign/Likely benign 2 2 Rotor syndrome;not specified 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -307937 Simple 11045819 A . Benign/Likely benign 2 2 Rotor syndrome;not specified 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -307946 Simple 59113707 G . Benign/Likely benign 2 2 Rotor syndrome;not provided 2016-10-11 -9.0 1.0 Benign/Likely benign 0 -308130 Simple 561224137 T . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-06-05 -14.4 1.0 Benign/Likely benign 0 -308132 Simple 112002520 T . Benign/Likely benign 2 3 Timothy syndrome;Long QT syndrome;Brugada syndrome 2017-05-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -308136 Simple 150692845 A . Benign/Likely benign 2 3 Timothy syndrome;Long QT syndrome;Brugada syndrome 2016-11-10 -12.0 1.0 Benign/Likely benign 0 -308140 Simple 377165829 C . Uncertain significance 2 3 Timothy syndrome;Brugada syndrome;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -308145 Simple 202058956 T . Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2016-06-14 -11.7 1.25 Benign/Likely benign 1 -308150 Simple 150092451 T . Benign/Likely benign 2 4 Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified 2017-03-16 -17.4 1.0 Benign/Likely benign 0 -308287 Simple 904582 T . Benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -308292 Simple 12823621 A . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -308294 Simple 16920084 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -308298 Simple 60803891 C . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-07-17 -14.4 1.0 Benign/Likely benign 0 -308299 Simple 11052113 C . Benign/Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -308384 Simple 191084732 G . Likely benign 2 2 not specified;Lethal Encephalopathy 2016-09-30 -6.0 1.0 Likely benign 0 -308459 Simple 541554381 C . Uncertain significance 2 3 not provided;Mitochondrial myopathy and sideroblastic anemia;Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-12-31 -0.8999999999999999 1.0 Uncertain significance 0 -308614 Simple 7135747 G . Benign/Likely benign 2 2 Parkinson disease 8, autosomal dominant 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -308639 Simple 41286460 G . Benign/Likely benign 2 2 not specified;Parkinson Disease, Dominant 2016-12-02 -9.0 1.0 Benign/Likely benign 0 -308707 Simple 772276749 G . Uncertain significance 2 2 Progressive myoclonus epilepsy with ataxia 2016-12-24 -0.6 1.0 Uncertain significance 0 -308732 Simple 4251545 A . Benign 2 2 IRAK4 deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -308803 Simple 7955866 A . Benign 2 3 Tumoral calcinosis, familial, hyperphosphatemic;not specified;Hypophosphatemic Rickets, Dominant 2017-07-28 -18.0 0.6666666666666666 Benign/Likely benign 1 -308902 Simple 41272773 A . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-08-26 -12.0 1.0 Benign/Likely benign 0 -308917 Simple 1793940 G . Benign/Likely benign 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2016-10-19 -12.0 1.0 Benign/Likely benign 0 -308924 Simple 754310324 A . Uncertain significance 2 3 Type II Collagenopathies;not provided;Stickler Syndrome, Dominant 2017-02-28 -0.8999999999999999 1.0 Uncertain significance 0 -308931 Simple 142770543 A . Uncertain significance 2 3 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2017-09-15 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -308933 Simple 7967258 T . Benign/Likely benign 2 4 Type II Collagenopathies;not specified;Stickler Syndrome, Dominant 2017-03-16 -18.0 0.75 Benign/Likely benign 0 -309004 Simple 770276955 A . Likely benign 2 2 Kabuki syndrome 2016-07-23 -6.0 1.0 Likely benign 0 -309022 Simple 200315963 T . Likely benign 2 2 not provided;Kabuki syndrome 2017-08-10 -6.0 0.5 Likely benign 0 -309032 Simple 771711980 GCTGCAGCTGCA . Uncertain significance 2 2 not specified;Kabuki syndrome 2017-10-31 -0.6 0.5 Uncertain significance 0 -309055 Simple 182887940 A . Benign/Likely benign 2 2 not specified;Kabuki syndrome 2017-04-18 -9.0 0.5 Benign/Likely benign 0 -309068 Simple 112921115 A . Likely benign 2 2 not specified;Kabuki syndrome 2016-11-07 -6.0 1.0 Likely benign 0 -309086 Simple 373466438 T . Likely benign 2 2 not specified;Kabuki syndrome 2016-06-14 -5.7 1.5 Likely benign 0 -309090 Simple 201994402 C . Likely benign 2 2 not specified;Kabuki syndrome 2017-01-17 -6.0 1.0 Likely benign 0 -309146 Simple 144351014 T . Likely benign 2 4 Episodic ataxia type 1;Episodic ataxia;not specified;Myokymia 2017-07-06 -12.0 0.5 Benign/Likely benign 1 -309332 Simple 61737395 T . Benign/Likely benign 2 3 Atrial fibrillation, familial, 7;not provided;Familial atrial fibrillation 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -309336 Simple 45504599 T . Benign/Likely benign 2 2 Atrial fibrillation, familial, 7;Familial atrial fibrillation 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -309363 Simple 757990460 C . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -309445 Simple 182368657 A . Benign/Likely benign 2 2 Osler hemorrhagic telangiectasia syndrome;not specified 2016-08-15 -9.0 1.0 Benign/Likely benign 0 -309526 Simple 2857667 T . Likely benign 2 2 Beaded hair;not provided 2016-11-07 -6.0 1.0 Likely benign 0 -309781 Simple 140030984 A . Uncertain significance 2 2 not specified;Congenital Muscular Dystrophy, ITGA7-related 2017-04-17 -0.6 0.5 Uncertain significance 0 -309787 Simple 150089409 T . Uncertain significance 2 3 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related 2017-05-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -309860 Simple 56696262 A . Benign 2 2 Diamond-Blackfan anemia;Diamond-Blackfan anemia 10 2017-07-30 -12.0 0.5 Benign/Likely benign 1 -309933 Simple 17119769 A . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-12-29 -9.0 1.0 Benign/Likely benign 0 -309938 Simple 75907338 A . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2016-12-09 -9.0 1.0 Benign/Likely benign 0 -309942 Simple 117670788 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-02-15 -15.0 1.0 Benign/Likely benign 0 -309944 Simple 113155897 A . Likely benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-09-28 -6.0 1.0 Likely benign 0 -309946 Simple 759750438 A . Likely benign 2 2 not specified;Spastic Paraplegia, Dominant 2017-01-04 -6.0 1.0 Likely benign 0 -309953 Simple 775249 T . Benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -310016 Simple 138534976 C . Uncertain significance 2 2 not provided;Combined oxidative phosphorylation deficiency 2016-06-14 -0.6 1.0 Uncertain significance 0 -310063 Simple 11063988 C . Benign/Likely benign 2 3 von Willebrand disorder;not specified 2017-01-18 -15.0 1.0 Benign/Likely benign 0 -310089 Simple 372664002 A . Uncertain significance 2 2 von Willebrand disorder;not specified 2017-10-20 -0.6 0.5 Uncertain significance 0 -310310 Simple 17102531 T . Benign/Likely benign 2 2 Cryptophthalmos syndrome;not provided 2017-05-03 -9.0 0.5 Benign/Likely benign 0 -310543 Simple 34880640 T . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-06-26 -12.0 0.6666666666666666 Benign/Likely benign 0 -310546 Simple 72647374 T . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-06-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -310578 Simple 5796316 AA . Benign 2 2 not specified;Immunodeficiency with Hyper-IgM 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -310586 Simple 200178519 T . Uncertain significance 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis 2017-05-04 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -310601 Simple 771898047 T . Uncertain significance 2 6 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not provided 2017-08-01 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -310670 Simple 72648609 A . Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-01-27 -9.0 1.0 Benign/Likely benign 1 -310737 Simple 56325964 G . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-29 -12.0 0.6666666666666666 Benign/Likely benign 0 -310738 Simple 34728563 C . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-29 -12.0 0.6666666666666666 Benign/Likely benign 0 -310742 Simple 11833299 G . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-06-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -310743 Simple 72648690 G . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-06-15 -12.0 0.6666666666666666 Benign/Likely benign 0 -310744 Simple 61736905 C . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-29 -12.0 0.6666666666666666 Benign/Likely benign 0 -310745 Simple 147099510 G . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-08-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -310748 Simple 141428612 T . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-12 -12.0 0.6666666666666666 Benign/Likely benign 0 -310764 Simple 368211058 A . Uncertain significance 2 3 Loeys-Dietz syndrome 2;not specified;Dilated Cardiomyopathy, Dominant 2017-02-15 -0.8999999999999999 1.0 Uncertain significance 0 -310765 Simple 886049912 C . Uncertain significance 2 2 Loeys-Dietz syndrome 2;Dilated Cardiomyopathy, Dominant 2017-06-28 -0.6 0.5 Uncertain significance 0 -310766 Simple 780719278 G . Uncertain significance 2 2 not specified;Dilated Cardiomyopathy, Dominant 2017-05-09 -0.6 0.5 Uncertain significance 0 -310802 Simple 138446333 T . Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-05-12 -9.0 0.6666666666666666 Benign/Likely benign 1 -310814 Simple 72650715 T . Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-05-12 -9.0 0.6666666666666666 Benign/Likely benign 1 -310818 Simple 72650719 A . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-29 -12.0 0.6666666666666666 Benign/Likely benign 0 -310820 Simple 141971833 G . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-02-08 -12.0 1.0 Benign/Likely benign 0 -310823 Simple 147752204 A . Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-06-03 -9.0 0.6666666666666666 Benign/Likely benign 1 -310827 Simple 72650730 T . Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-05-24 -9.0 0.6666666666666666 Benign/Likely benign 1 -310828 Simple 142543401 G . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-18 -12.0 0.6666666666666666 Benign/Likely benign 0 -310830 Simple 146861951 A . Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-04 -9.0 0.6666666666666666 Benign/Likely benign 1 -310831 Simple 72650732 - . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-08-09 -12.0 0.6666666666666666 Benign/Likely benign 0 -310832 Simple 149852592 C . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-18 -12.0 0.6666666666666666 Benign/Likely benign 0 -310835 Simple 148639270 G . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-21 -18.0 0.6666666666666666 Benign/Likely benign 1 -310836 Simple 17755373 T . Benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-08-08 -18.0 0.6666666666666666 Benign/Likely benign 1 -310837 Simple 61736908 G . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-07-29 -12.0 0.6666666666666666 Benign/Likely benign 0 -310838 Simple 138219481 A . Benign/Likely benign 2 3 Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II 2017-06-21 -12.0 0.6666666666666666 Benign/Likely benign 0 -310840 Simple 374941593 A . Likely benign 2 2 Propionic acidemia;not specified 2017-07-27 -6.0 0.5 Likely benign 0 -310842 Simple 202049874 T . Likely benign 2 2 Propionic acidemia;not provided 2017-05-11 -6.0 0.5 Likely benign 0 -310844 Simple 780406346 A . Uncertain significance 2 2 Propionic acidemia 2016-12-05 -0.6 1.0 Uncertain significance 0 -310973 Simple 2232642 T . Benign/Likely benign 2 3 Lig4 syndrome;Severe combined immunodeficiency with sensitivity to ionizing radiation 2017-06-21 -12.0 0.6666666666666666 Benign/Likely benign 0 -310988 Simple 2232638 A . Benign/Likely benign 2 3 Lig4 syndrome;Severe combined immunodeficiency with sensitivity to ionizing radiation 2017-06-21 -12.0 0.6666666666666666 Benign/Likely benign 0 -311033 Simple 188122235 A . Likely benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not provided 2017-06-12 -12.0 0.75 Benign/Likely benign 1 -311034 Simple 370539477 T . Benign/Likely benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified 2016-11-23 -15.0 1.0 Benign/Likely benign 0 -311040 Simple 532261610 AA . Likely benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not provided 2017-08-10 -12.0 0.75 Benign/Likely benign 1 -311066 Simple 115358624 C . Benign/Likely benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not provided 2017-02-27 -15.0 1.0 Benign/Likely benign 0 -311068 Simple 73611465 A . Benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly 2017-06-01 -24.0 0.75 Benign 0 -311077 Simple 16975612 A . Benign/Likely benign 2 4 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly 2017-06-01 -15.0 0.75 Benign/Likely benign 0 -311346 Simple 149933083 T . Benign/Likely benign 2 2 Zonular pulverulent cataract 3;Zonular Pulverulent Cataract 2017-02-11 -9.0 1.0 Benign/Likely benign 0 -311521 Simple 34928783 C . Uncertain significance 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-08-22 -0.6 1.0 Uncertain significance 0 -311536 Simple 747566710 T . Uncertain significance 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified 2017-05-31 -0.6 0.5 Uncertain significance 0 -311538 Simple 774492331 C . Uncertain significance 2 2 Spastic ataxia Charlevoix-Saguenay type;Spastic paraplegia 2017-06-16 -0.6 0.5 Uncertain significance 0 -311543 Simple 200810800 T . Uncertain significance 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified 2017-07-06 -0.6 0.5 Uncertain significance 0 -311546 Simple 757939935 A . Uncertain significance 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified 2016-08-18 -0.6 1.0 Uncertain significance 0 -311554 Simple 201857647 A . Uncertain significance 2 2 Spastic ataxia Charlevoix-Saguenay type;not specified 2017-04-20 -0.6 0.5 Uncertain significance 0 -311555 Simple 143433500 T . Uncertain significance 2 3 Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia 2017-01-20 -0.8999999999999999 1.0 Uncertain significance 0 -311562 Simple 375875022 A . Uncertain significance 2 2 Spastic ataxia Charlevoix-Saguenay type;Spastic paraplegia 2016-12-08 -0.6 1.0 Uncertain significance 0 -311629 Simple 139844197 A . Uncertain significance 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -311661 Simple 276174927 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.9 0.8 Benign/Likely benign 1 -311764 Simple 143274967 T . Uncertain significance 2 2 Troyer syndrome 2016-12-13 -0.6 1.0 Uncertain significance 0 -311783 Simple 763162669 G . Uncertain significance 2 2 Bare lymphocyte syndrome 2 2017-07-10 -0.6 0.5 Uncertain significance 0 -311787 Simple 193240312 C . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -311902 Simple 79733377 T . Benign/Likely benign 2 3 Primary pulmonary hypertension;not specified;Primary pulmonary hypertension 2 2017-05-20 -15.0 0.6666666666666666 Benign/Likely benign 0 -312131 Simple 751870618 G . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2016-11-14 -0.6 1.0 Uncertain significance 0 -312139 Simple 4129745 G . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified 2016-06-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -312143 Simple 41286961 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -312147 Simple 201839861 - . Benign/Likely benign 2 3 Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 2L;Shaheen syndrome 2017-06-23 -15.0 0.6666666666666666 Benign/Likely benign 0 -312288 Simple 117865557 T . Benign/Likely benign 2 3 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-07-13 -12.0 0.6666666666666666 Benign/Likely benign 0 -312291 Simple 3092895 G . Benign/Likely benign 2 3 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-07-28 -11.7 1.0 Benign/Likely benign 0 -312292 Simple 551747882 A . Benign/Likely benign 2 2 Retinoblastoma 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -312295 Simple 370088029 G . Likely benign 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-07-07 -6.0 0.5 Likely benign 0 -312296 Simple 4151624 A . Benign/Likely benign 2 2 Retinoblastoma;not specified 2016-11-14 -9.0 1.0 Benign/Likely benign 0 -312330 Simple 146451037 G . Uncertain significance 2 2 Aicardi Goutieres syndrome;not provided 2016-09-30 -0.6 1.0 Uncertain significance 0 -312333 Simple 76413207 C . Benign/Likely benign 2 3 Aicardi Goutieres syndrome 2;Aicardi Goutieres syndrome;not specified 2017-06-29 -15.0 0.6666666666666666 Benign/Likely benign 0 -312334 Simple 144408326 T . Benign/Likely benign 2 3 Aicardi Goutieres syndrome 2;Aicardi Goutieres syndrome;not provided 2017-08-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -312383 Simple 764131178 T . Pathogenic 2 2 Wilson disease;not specified 2017-01-12 12.0 1.0 Pathogenic/Likely pathogenic 1 -312396 Simple 376398239 C . Uncertain significance 2 2 Wilson disease;not specified 2017-04-19 -0.6 0.5 Uncertain significance 0 -312402 Simple 115564351 A . Uncertain significance 2 2 Wilson disease;not specified 2016-12-04 -0.6 1.0 Uncertain significance 0 -312405 Simple 2277448 T . Benign 2 4 Wilson disease;Congenital disorder of glycosylation;not specified 2016-10-10 -23.4 1.25 Benign/Likely benign 1 -312409 Simple 139798579 C . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2017-05-01 -0.6 0.5 Uncertain significance 0 -312413 Simple 61958802 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1P;not specified 2017-07-14 -14.4 1.0 Benign/Likely benign 0 -312616 Simple 772070566 T . Uncertain significance 2 4 Charcot-Marie-Tooth disease, axonal, type 2O;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-06-13 -1.2 0.75 Uncertain significance 0 -312624 Simple 774004189 G . Uncertain significance 2 4 Charcot-Marie-Tooth disease, axonal, type 2O;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-06-14 -1.2 0.75 Uncertain significance 0 -312639 Simple 139109090 A . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-06-03 -21.0 0.8 Benign/Likely benign 0 -312653 Simple 141696238 T . Benign/Likely benign 2 6 Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2017-08-08 -23.4 1.0 Benign/Likely benign 0 -312658 Simple 529010293 T . Uncertain significance 2 4 not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant 2016-06-14 -1.17 1.25 Uncertain significance 0 -312675 Simple 115602636 A . Benign 2 2 Focal segmental glomerulosclerosis;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -312676 Simple 201383094 A . Likely benign 2 2 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;Charcot-Marie-Tooth disease, dominant intermediate E 2016-11-13 -6.0 1.0 Likely benign 0 -312678 Simple 201568246 A . Benign/Likely benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-09-08 -12.0 0.3333333333333333 Benign/Likely benign 0 -312682 Simple 146529868 T . Benign/Likely benign 2 2 Focal segmental glomerulosclerosis;not specified 2017-01-11 -9.0 1.0 Benign/Likely benign 0 -312688 Simple 201323100 A . Likely benign 2 2 Focal segmental glomerulosclerosis;not specified 2017-05-03 -6.0 0.5 Likely benign 0 -312689 Simple 181694819 T . Benign/Likely benign 2 2 Focal segmental glomerulosclerosis;not specified 2016-07-29 -9.0 1.0 Benign/Likely benign 0 -312692 Simple 375573206 A . Likely benign 2 2 Focal segmental glomerulosclerosis;not specified 2016-10-06 -6.0 1.0 Likely benign 0 -312703 Simple 199873407 T . Benign/Likely benign 2 2 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;Charcot-Marie-Tooth disease, dominant intermediate E 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -312705 Simple 377023270 T . Benign/Likely benign 2 2 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;Charcot-Marie-Tooth disease, dominant intermediate E 2017-06-15 -9.0 0.5 Benign/Likely benign 0 -312706 Simple 200369827 A . Benign/Likely benign 2 2 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;Charcot-Marie-Tooth disease, dominant intermediate E 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -312709 Simple 9672065 A . Benign 2 3 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-07-17 -17.4 1.0 Benign/Likely benign 1 -312710 Simple 374684004 A . Uncertain significance 2 2 Focal segmental glomerulosclerosis 5;Focal segmental glomerulosclerosis;Charcot-Marie-Tooth disease, dominant intermediate E 2017-06-27 -0.6 0.5 Uncertain significance 0 -312713 Simple 142710295 T . Benign/Likely benign 2 2 Focal segmental glomerulosclerosis;not specified 2016-07-01 -9.0 1.0 Benign/Likely benign 0 -312730 Simple 1713420 G . Benign 2 2 Purine-nucleoside phosphorylase deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -312774 Simple 17560 G . Benign/Likely benign 2 2 not specified;Amyotrophic Lateral Sclerosis, Dominant 2016-09-26 -9.0 1.0 Benign/Likely benign 0 -312779 Simple 201384449 C . Uncertain significance 2 3 Leber congenital amaurosis;not provided;Cone-Rod Dystrophy, Recessive 2016-08-31 -0.8999999999999999 1.0 Uncertain significance 0 -312800 Simple 34725281 A . Benign/Likely benign 2 3 Cone-rod dystrophy 13;Leber congenital amaurosis 6;Leber congenital amaurosis;Cone-Rod Dystrophy, Recessive 2017-02-02 -12.0 1.0 Benign/Likely benign 0 -312824 Simple 8016634 A . Benign/Likely benign 2 3 Lysinuric protein intolerance;not specified 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -312857 Simple 200618133 C . Benign/Likely benign 2 4 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-10-05 -15.0 1.0 Benign/Likely benign 0 -312860 Simple 368451573 T . Uncertain significance 2 4 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-05-05 -1.2 0.75 Uncertain significance 0 -312864 Simple 762230455 T . Uncertain significance 2 4 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-05 -1.2 1.0 Uncertain significance 0 -312870 Simple 150675144 T . Uncertain significance 2 4 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-02-08 -1.2 1.0 Uncertain significance 0 -312873 Simple 776602843 T . Uncertain significance 2 4 Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-05-08 -1.2 0.75 Uncertain significance 0 -312879 Simple 138572790 C . Uncertain significance 2 4 Familial hypertrophic cardiomyopathy 14;Atrial septal defect;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-06-14 -1.2 1.0 Uncertain significance 0 -312886 Simple 79618123 G . Benign/Likely benign 2 10 Myosin storage myopathy;Myopathy, distal, 1;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-12-22 -33.0 1.0 Benign 1 -312895 Simple 570079347 A . Benign/Likely benign 2 7 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-07-27 -24.0 1.0 Benign 1 -312896 Simple 578166720 T . Likely benign 2 7 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2016-09-12 -21.0 1.0 Benign/Likely benign 1 -312903 Simple 779973529 T . Uncertain significance 2 7 Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant 2017-04-06 -2.1 0.8571428571428571 Uncertain significance 0 -312946 Simple 10141326 T . Benign 2 4 Revesz syndrome;Dyskeratosis congenita;not specified;Dyskeratosis Congenita, Dominant 2017-08-07 -24.0 0.5 Benign 0 -312947 Simple 184422577 T . Benign/Likely benign 2 4 Revesz syndrome;Dyskeratosis congenita;not specified;Dyskeratosis Congenita, Dominant 2017-07-31 -14.7 1.0 Benign/Likely benign 0 -312949 Simple 75124018 A . Benign/Likely benign 2 3 Revesz syndrome;Dyskeratosis congenita;Dyskeratosis Congenita, Dominant 2016-12-04 -12.0 1.0 Benign/Likely benign 0 -312951 Simple 17102313 T . Benign 2 4 Revesz syndrome;Dyskeratosis congenita;not specified;Dyskeratosis Congenita, Dominant 2017-08-07 -24.0 0.5 Benign 0 -312955 Simple 189265179 C . Benign/Likely benign 2 3 Revesz syndrome;Dyskeratosis congenita;Dyskeratosis Congenita, Dominant 2017-07-12 -12.0 0.6666666666666666 Benign/Likely benign 0 -312956 Simple 202093758 G . Benign/Likely benign 2 3 Revesz syndrome;Dyskeratosis congenita;Dyskeratosis Congenita, Dominant 2017-03-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -312971 Simple 141864003 T . Uncertain significance 2 2 not specified;Congenital ichthyosiform erythroderma 2017-10-10 -0.6 0.5 Uncertain significance 0 -313004 Simple 28362778 G . Likely benign 2 2 not specified;Nonsyndromic Hearing Loss, Dominant 2017-05-26 -6.0 0.5 Likely benign 0 -313108 Simple 8904 A . Benign 2 2 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -313110 Simple 148656104 G . Likely benign 2 3 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant;not specified 2017-01-24 -9.0 1.0 Benign/Likely benign 1 -313112 Simple 2233418 A . Benign/Likely benign 2 2 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -313115 Simple 1050851 A . Benign 2 3 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant;not specified 2016-11-15 -18.0 1.0 Benign/Likely benign 1 -313116 Simple 2233412 A . Benign/Likely benign 2 2 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -313117 Simple 1957106 A . Benign 2 3 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant;not specified 2017-02-06 -18.0 1.0 Benign/Likely benign 1 -313168 Simple 61734510 A . Benign/Likely benign 2 2 Selective tooth agenesis;Partial congenital absence of teeth 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -313170 Simple 116676854 G . Benign/Likely benign 2 2 Selective tooth agenesis;Partial congenital absence of teeth 2017-06-26 -9.0 0.5 Benign/Likely benign 0 -313189 Simple 142904668 T . Uncertain significance 2 2 Fanconi anemia 2017-04-27 -0.6 0.5 Uncertain significance 0 -313199 Simple 144215747 G . Uncertain significance 2 3 Fanconi anemia;not specified 2017-05-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -313202 Simple 777379515 C . Uncertain significance 2 2 Fanconi anemia 2016-06-14 -0.6 1.0 Uncertain significance 0 -313207 Simple 8017226 C . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-07-26 -15.0 0.3333333333333333 Benign/Likely benign 0 -313209 Simple 142864437 C . Uncertain significance 2 2 Fanconi anemia 2017-05-25 -0.6 0.5 Uncertain significance 0 -313218 Simple 200360968 T . Uncertain significance 2 2 Fanconi anemia 2017-03-31 -0.6 0.5 Uncertain significance 0 -313255 Simple 2228449 T . Benign/Likely benign 2 3 Congenital disorder of glycosylation;Primary ciliary dyskinesia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -313289 Simple 549457480 T . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-07-28 -0.6 0.5 Uncertain significance 0 -313293 Simple 76375909 C . Benign/Likely benign 2 2 Spastic paraplegia 3;Spastic Paraplegia, Dominant 2017-07-13 -9.0 0.5 Benign/Likely benign 0 -313294 Simple 200310890 G . Benign/Likely benign 2 2 Spastic paraplegia 3;Spastic Paraplegia, Dominant 2017-08-05 -9.0 0.5 Benign/Likely benign 0 -313296 Simple 147839037 T . Uncertain significance 2 2 not specified;Spastic Paraplegia, Dominant 2016-12-30 -0.6 1.0 Uncertain significance 0 -313298 Simple 146975855 T . Benign/Likely benign 2 4 Spastic paraplegia 3;not specified;Spastic Paraplegia, Dominant 2017-09-07 -18.0 0.25 Benign/Likely benign 0 -313299 Simple 139720661 C . Benign/Likely benign 2 3 Spastic paraplegia 3;not specified;Spastic Paraplegia, Dominant 2017-07-20 -15.0 0.6666666666666666 Benign/Likely benign 0 -313300 Simple 35044504 T . Benign/Likely benign 2 3 Spastic paraplegia 3;not specified;Spastic Paraplegia, Dominant 2017-07-20 -14.4 1.0 Benign/Likely benign 0 -313353 Simple 777501416 C . Uncertain significance 2 5 Orofacial cleft;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant;BMP4-Related Syndromic Microphthalmia;Syndromic Microphthalmia, Dominant 2016-06-23 -1.5 1.0 Uncertain significance 0 -313354 Simple 771047931 C . Uncertain significance 2 5 Orofacial cleft;not specified;Cleft Lip +/- Cleft Palate, Autosomal Dominant;BMP4-Related Syndromic Microphthalmia;Syndromic Microphthalmia, Dominant 2017-01-12 -1.5 1.0 Uncertain significance 0 -313386 Simple 841 A . Benign 2 3 GTP cyclohydrolase I deficiency;not specified;Dystonia, dopa-responsive 2016-12-02 -18.0 1.0 Benign/Likely benign 1 -313389 Simple 190993883 G . Benign/Likely benign 2 3 GTP cyclohydrolase I deficiency;not specified;Dystonia, dopa-responsive 2017-04-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -313395 Simple 150158277 T . Likely benign 2 3 GTP cyclohydrolase I deficiency;not specified;Dystonia, dopa-responsive 2017-11-06 -9.0 0.6666666666666666 Benign/Likely benign 1 -313483 Simple 146748294 G . Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-04-04 -6.0 0.5 Likely benign 0 -313487 Simple 761844853 T . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-06-05 -0.6 0.5 Uncertain significance 0 -313488 Simple 117567094 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -313497 Simple 114718315 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-01-09 -9.0 1.0 Benign/Likely benign 0 -313512 Simple 73277546 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -313513 Simple 116597541 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-06-05 -15.0 0.6666666666666666 Benign/Likely benign 0 -313515 Simple 76634907 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2016-10-31 -9.0 1.0 Benign/Likely benign 0 -313519 Simple 80046702 G . Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-05-26 -6.0 0.5 Likely benign 0 -313526 Simple 138272705 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -313531 Simple 143031135 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2016-10-31 -9.0 1.0 Benign/Likely benign 0 -313532 Simple 34393543 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -313533 Simple 115809466 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-04-21 -9.0 0.5 Benign/Likely benign 0 -313545 Simple 566182360 C . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-04-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -313547 Simple 193035848 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-05-30 -9.0 0.5 Benign/Likely benign 0 -313551 Simple 36039501 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-02 -15.0 0.3333333333333333 Benign/Likely benign 0 -313552 Simple 35920722 G . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified 2017-08-02 -15.0 0.3333333333333333 Benign/Likely benign 0 -313561 Simple 193068394 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-05-30 -9.0 0.5 Benign/Likely benign 0 -313568 Simple 144164967 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -313574 Simple 145227848 A . Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-11 -6.0 0.5 Likely benign 0 -313575 Simple 35223918 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2016-09-04 -9.0 1.0 Benign/Likely benign 0 -313585 Simple 113145581 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -313589 Simple 143646847 A . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-20 -0.6 0.5 Uncertain significance 0 -313590 Simple 186567969 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -313591 Simple 61987277 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -313594 Simple 10133691 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -313597 Simple 75568433 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -313602 Simple 747348017 C . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-03-16 -0.6 0.5 Uncertain significance 0 -313607 Simple 2039475 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -313609 Simple 886050593 - . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-05-30 -9.0 0.5 Benign/Likely benign 0 -313627 Simple 17179194 A . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-06-20 -9.0 0.5 Benign/Likely benign 0 -313647 Simple 150629598 A . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy;not specified 2017-05-03 -0.6 0.5 Uncertain significance 0 -313652 Simple 144593270 T . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -313653 Simple 45453691 G . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-06-20 -9.0 0.5 Benign/Likely benign 0 -313657 Simple 77065534 C . Benign/Likely benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -313710 Simple 200508249 T . Uncertain significance 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -313772 Simple 141060172 A . Benign/Likely benign 2 3 not specified;Elliptocytosis;Spherocytosis, Dominant 2017-04-25 -12.0 0.6666666666666666 Benign/Likely benign 0 -313819 Simple 201743423 A . Uncertain significance 2 4 Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -1.17 1.0 Uncertain significance 0 -313880 Simple 76327447 T . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-07-25 -11.7 1.0 Benign/Likely benign 0 -313894 Simple 201034965 A . Uncertain significance 2 2 Spastic paraplegia;Spastic Paraplegia, Recessive 2016-11-26 -0.6 1.0 Uncertain significance 0 -313905 Simple 34296097 A . Benign/Likely benign 2 4 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-08-01 -21.0 0.5 Benign/Likely benign 0 -313908 Simple 35471427 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2016-11-24 -15.0 1.0 Benign/Likely benign 0 -313909 Simple 17192170 A . Benign/Likely benign 2 4 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-07-24 -20.4 1.0 Benign/Likely benign 0 -313914 Simple 145183291 - . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Recessive 2017-10-05 -15.0 0.3333333333333333 Benign/Likely benign 0 -313924 Simple 147919567 T . Uncertain significance 2 3 not specified;not provided;Spastic Paraplegia, Recessive 2017-05-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -313925 Simple 75391113 A . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Recessive 2017-06-05 -9.0 0.5 Benign/Likely benign 0 -313927 Simple 144919978 G . Uncertain significance 2 2 not specified;Spastic Paraplegia, Recessive 2016-10-14 -0.6 1.0 Uncertain significance 0 -313928 Simple 199505106 T . Uncertain significance 2 2 Spastic paraplegia;Spastic Paraplegia, Recessive 2017-05-31 -0.6 0.5 Uncertain significance 0 -314272 Simple 117800773 T . Uncertain significance 2 3 Weill-Marchesani syndrome;Weill-Marchesani syndrome 3;Primary congenital glaucoma 2017-08-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -314315 Simple 143282840 A . Uncertain significance 2 3 Weill-Marchesani syndrome;Weill-Marchesani syndrome 3;Primary congenital glaucoma 2017-08-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -314372 Simple 28757028 T . Benign/Likely benign 2 2 Lynch syndrome;MLH3-Related Lynch Syndrome 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -314382 Simple 17102999 A . Benign/Likely benign 2 2 Lynch syndrome;not specified;MLH3-Related Lynch Syndrome 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -314383 Simple 28756991 T . Benign/Likely benign 2 2 Lynch syndrome;not specified;MLH3-Related Lynch Syndrome 2017-08-17 -9.0 0.5 Benign/Likely benign 0 -314386 Simple 28756988 C . Benign/Likely benign 2 2 Lynch syndrome;not specified;MLH3-Related Lynch Syndrome 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -314391 Simple 28756980 T . Benign/Likely benign 2 2 Lynch syndrome;not specified;MLH3-Related Lynch Syndrome 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -314556 Simple 763119319 A . Uncertain significance 2 2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-25 -0.6 0.5 Uncertain significance 0 -314557 Simple 764723711 A . Uncertain significance 2 2 not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-21 -0.6 0.5 Uncertain significance 0 -314664 Simple 138652708 A . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IC;not provided 2017-08-08 -12.0 0.3333333333333333 Benign/Likely benign 0 -314667 Simple 149054777 A . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IC;not specified 2017-06-23 -11.7 1.0 Benign/Likely benign 0 -314668 Simple 34418677 C . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IC;not specified 2017-06-12 -15.0 0.6666666666666666 Benign/Likely benign 0 -314672 Simple 2364602 G . Benign 2 2 Hereditary sensory and autonomic neuropathy type IC;not specified 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -314675 Simple 114519796 A . Benign/Likely benign 2 2 Hereditary sensory and autonomic neuropathy type IC 2017-05-25 -9.0 0.5 Benign/Likely benign 0 -314676 Simple 114519796 T . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IC;not specified 2017-02-06 -14.4 1.3333333333333333 Benign/Likely benign 0 -314678 Simple 75565823 G . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IC;not specified 2017-07-17 -15.0 0.6666666666666666 Benign/Likely benign 0 -314680 Simple 115191009 G . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IC;not specified 2017-05-24 -14.4 1.0 Benign/Likely benign 0 -314682 Simple 142320856 T . Likely benign 2 2 Hereditary sensory and autonomic neuropathy type IC;not specified 2016-08-04 -6.0 1.0 Likely benign 0 -314685 Simple 7155278 A . Benign 2 2 Hereditary sensory and autonomic neuropathy type IC;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -314692 Simple 144084915 A . Uncertain significance 2 3 Hyperthyroidism, nonautoimmune;Congenital hypothyroidism;not specified 2016-11-07 -0.8999999999999999 1.0 Uncertain significance 0 -314751 Simple 74073730 A . Benign/Likely benign 2 3 Galactosylceramide beta-galactosidase deficiency;not specified 2017-06-09 -15.0 0.6666666666666666 Benign/Likely benign 0 -314831 Simple 34452707 A . Likely benign 2 2 not specified;Autosomal recessive cerebellar ataxia 2017-08-01 -6.0 0.5 Likely benign 0 -314836 Simple 141725364 T . Uncertain significance 2 2 not specified;Autosomal recessive cerebellar ataxia 2017-04-14 -0.6 0.5 Uncertain significance 0 -314840 Simple 201355368 G . Uncertain significance 2 2 not specified;Autosomal recessive cerebellar ataxia 2017-04-27 -0.6 0.5 Uncertain significance 0 -314872 Simple 145515678 A . Likely benign 2 3 not specified;Macular degeneration;Cutis Laxa, Dominant/Recessive 2017-10-25 -9.0 0.6666666666666666 Benign/Likely benign 1 -314927 Simple 3742719 T . Benign/Likely benign 2 3 Achondrogenesis, type IA;Achondrogenesis;not specified 2017-05-25 -15.0 0.6666666666666666 Benign/Likely benign 0 -314929 Simple 74071672 C . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-11-04 -9.0 1.0 Benign/Likely benign 0 -314932 Simple 11851376 T . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -314935 Simple 17127837 G . Benign/Likely benign 2 2 Achondrogenesis, type IA;Achondrogenesis 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -314947 Simple 34919898 T . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-10-31 -9.0 1.0 Benign/Likely benign 0 -314949 Simple 34151071 G . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-10-31 -9.0 1.0 Benign/Likely benign 0 -314950 Simple 34805848 C . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-10-31 -9.0 1.0 Benign/Likely benign 0 -314952 Simple 7152887 A . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-06-24 -9.0 1.0 Benign/Likely benign 0 -314958 Simple 34967261 C . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-10-31 -9.0 1.0 Benign/Likely benign 0 -314960 Simple 34699762 G . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-10-31 -9.0 1.0 Benign/Likely benign 0 -314964 Simple 143524436 T . Benign/Likely benign 2 3 Achondrogenesis;not specified;not provided 2017-03-03 -12.0 1.0 Benign/Likely benign 0 -314968 Simple 17127844 C . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-06-24 -9.0 1.0 Benign/Likely benign 0 -314969 Simple 142579179 C . Uncertain significance 2 2 Achondrogenesis;not specified 2017-01-19 -0.6 1.0 Uncertain significance 0 -314977 Simple 77981249 G . Benign/Likely benign 2 3 Achondrogenesis, type IA;Achondrogenesis;not specified 2017-05-25 -15.0 0.6666666666666666 Benign/Likely benign 0 -314978 Simple 56034853 T . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-10-31 -9.0 1.0 Benign/Likely benign 0 -314980 Simple 17127898 A . Benign/Likely benign 2 2 Achondrogenesis;not specified 2016-08-04 -9.0 1.0 Benign/Likely benign 0 -314984 Simple 78222479 A . Benign/Likely benign 2 2 Achondrogenesis;not specified 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -315028 Simple 775982338 - . Pathogenic, other 2 2 PI M(MALTON);Alpha-1-antitrypsin deficiency 2016-07-15 11.4 1.5 Pathogenic/Likely pathogenic 1 -315099 Simple 770907156 T . Uncertain significance 2 2 Pleuropulmonary blastoma;Hereditary cancer-predisposing syndrome 2017-04-05 -0.6 0.5 Uncertain significance 0 -315100 Simple 752116341 C . Uncertain significance 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -315105 Simple 1778057 A . Benign 2 2 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-08-21 -12.0 0.5 Benign/Likely benign 1 -315107 Simple 201906274 T . Likely benign 2 2 Pleuropulmonary blastoma;not specified 2017-08-04 -6.0 0.5 Likely benign 0 -315112 Simple 201842071 T . Likely benign 2 3 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-11 -9.0 0.3333333333333333 Benign/Likely benign 1 -315114 Simple 538838304 G . Likely benign 2 2 Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-02-23 -6.0 1.0 Likely benign 0 -315123 Simple 149661915 G . Uncertain significance 2 3 Pontocerebellar hypoplasia type 1A;Pontoneocerebellar hypoplasia;not specified 2017-07-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -315424 Simple 547634456 T . Benign/Likely benign 2 2 Spastic paraplegia 6;Spastic Paraplegia, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -315617 Simple 779390859 - . Uncertain significance 2 2 Andermann syndrome;not specified 2017-08-17 -0.6 0.5 Uncertain significance 0 -315796 Simple 114259808 A . Benign/Likely benign 2 2 Isovaleryl-CoA dehydrogenase deficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -315797 Simple 145999491 T . Uncertain significance 2 2 Isovaleryl-CoA dehydrogenase deficiency;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -315803 Simple 115077254 T . Benign/Likely benign 2 3 Isovaleryl-CoA dehydrogenase deficiency;not specified 2016-09-29 -14.4 1.3333333333333333 Benign/Likely benign 0 -315844 Simple 201037775 G . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -315849 Simple 201334214 T . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -315895 Simple 146403258 C . Uncertain significance 2 3 Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2016-10-21 -0.8999999999999999 1.0 Uncertain significance 0 -315975 Simple 199635198 T . Uncertain significance 2 2 not provided;Spinocerebellar Ataxia, Dominant 2016-07-31 -0.6 1.0 Uncertain significance 0 -316030 Simple 16957499 G . Benign/Likely benign 2 2 not specified;Spherocytosis, Recessive 2017-04-11 -9.0 0.5 Benign/Likely benign 0 -316077 Simple 79186522 T . Uncertain significance 2 2 Spastic paraplegia 11, autosomal recessive;Spastic Paraplegia, Recessive 2016-09-23 -0.6 1.0 Uncertain significance 0 -316106 Simple 775799559 T . Uncertain significance 2 2 Spastic paraplegia 11, autosomal recessive;Spastic Paraplegia, Recessive 2017-05-24 -0.6 0.5 Uncertain significance 0 -316110 Simple 76823973 A . Benign/Likely benign 2 2 Spastic paraplegia 11, autosomal recessive;Spastic Paraplegia, Recessive 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -316111 Simple 75309308 C . Benign/Likely benign 2 2 Spastic paraplegia 11, autosomal recessive;Spastic Paraplegia, Recessive 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -316184 Simple 190660925 A . Uncertain significance 2 2 Congenital hypothyroidism;not specified 2017-05-11 -0.6 0.5 Uncertain significance 0 -316187 Simple 370438048 T . Uncertain significance 2 2 Congenital hypothyroidism;not specified 2017-07-21 -0.6 0.5 Uncertain significance 0 -316360 Simple 112189340 A . Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-05-01 -27.0 0.8888888888888888 Benign 2 -316361 Simple 200822151 A . Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2016-07-05 -27.0 1.0 Benign 2 -316365 Simple 363831 C . Benign/Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-06-23 -30.0 0.8888888888888888 Benign 1 -316369 Simple 756506237 C . Uncertain significance 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2016-12-21 -2.6999999999999997 1.0 Uncertain significance 0 -316377 Simple 188317014 A . Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2016-08-30 -27.0 1.0 Benign 2 -316379 Simple 144400069 A . Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2016-10-21 -27.0 1.0 Benign 2 -316380 Simple 199789628 T . Benign/Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-01-18 -30.0 1.0 Benign 1 -316383 Simple 56102085 G . Likely benign 2 9 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis 2016-06-14 -26.7 1.1111111111111112 Benign 2 -316386 Simple 25436 C . Benign/Likely benign 2 11 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-08-23 -36.0 0.8181818181818182 Benign 1 -316391 Simple 375721252 C . Likely benign 2 10 Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis 2017-06-08 -30.0 0.9 Benign 2 -316431 Simple 200957146 T . Uncertain significance 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2016-08-17 -0.8999999999999999 1.0 Uncertain significance 0 -316433 Simple 374200686 T . Uncertain significance 2 3 Seckel syndrome;not specified;Primary Microcephaly, Recessive 2017-02-15 -0.8999999999999999 1.0 Uncertain significance 0 -316734 Simple 367684457 T . Likely benign 2 2 Nemaline myopathy 6;Nemaline Myopathy, Dominant 2017-07-24 -6.0 0.5 Likely benign 0 -316738 Simple 567309902 A . Uncertain significance 2 2 not specified;Nemaline Myopathy, Dominant 2017-05-18 -0.6 0.5 Uncertain significance 0 -316739 Simple 188146580 G . Likely benign 2 2 Nemaline myopathy 6;Nemaline Myopathy, Dominant 2017-07-24 -6.0 0.5 Likely benign 0 -316740 Simple 201466173 A . Likely benign 2 3 Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant 2017-09-13 -9.0 0.3333333333333333 Benign/Likely benign 1 -316749 Simple 184130258 G . Benign/Likely benign 2 2 Nemaline myopathy 6;Nemaline Myopathy, Dominant 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -316864 Simple 144245324 T . Likely benign 2 3 Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-25 -9.0 0.6666666666666666 Benign/Likely benign 1 -316996 Simple 532180601 C . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-07-12 -0.6 0.5 Uncertain significance 0 -317062 Simple 766664389 A . Uncertain significance 2 2 Bardet-Biedl syndrome;not provided 2016-08-31 -0.6 1.0 Uncertain significance 0 -317103 Simple 351241 T . Benign/Likely benign 2 2 Microphthalmia syndromic 9;Syndromic Microphthalmia, Recessive 2017-06-13 -9.0 0.5 Benign/Likely benign 0 -317132 Simple 143655263 T . Uncertain significance 2 2 not provided;Congenital Adrenal Insufficiency 2017-03-30 -0.6 0.5 Uncertain significance 0 -317143 Simple 201815588 C . Uncertain significance 2 2 Congenital disorder of glycosylation type 1B;Congenital disorder of glycosylation 2017-01-26 -0.6 1.0 Uncertain significance 0 -317175 Simple 375950478 A . Benign/Likely benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2016-08-24 -9.0 1.0 Benign/Likely benign 0 -317181 Simple 377437961 G . Uncertain significance 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2016-08-05 -0.6 1.0 Uncertain significance 0 -317182 Simple 201582038 T . Benign/Likely benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -317185 Simple 34908107 T . Benign/Likely benign 2 3 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2017-08-07 -12.0 0.3333333333333333 Benign/Likely benign 0 -317187 Simple 145344175 A . Benign/Likely benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -317215 Simple 73481171 A . Benign/Likely benign 2 2 Tyrosinemia type I;Hypertyrosinemia 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -317257 Simple 369268726 C . Uncertain significance 2 2 Fanconi anemia 2016-10-18 -0.6 1.0 Uncertain significance 0 -317261 Simple 112387610 A . Uncertain significance 2 2 Fanconi anemia 2016-06-14 -0.6 1.0 Uncertain significance 0 -317267 Simple 113772230 A . Benign/Likely benign 2 2 Fanconi anemia 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -317271 Simple 76788798 A . Benign/Likely benign 2 2 Fanconi anemia 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -317273 Simple 3743377 C . Benign/Likely benign 2 2 Fanconi anemia 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -317274 Simple 16942931 T . Benign/Likely benign 2 2 Fanconi anemia 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -317280 Simple 151038616 A . Uncertain significance 2 2 Fanconi anemia 2017-06-02 -0.6 0.5 Uncertain significance 0 -317284 Simple 16942969 T . Benign/Likely benign 2 2 Fanconi anemia 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -317300 Simple 34557339 T . Benign/Likely benign 2 2 Fanconi anemia 2017-07-03 -9.0 0.5 Benign/Likely benign 0 -317324 Simple 886051522 T . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;POLG-Related Spectrum Disorders 2016-10-30 -0.6 1.0 Uncertain significance 0 -317405 Simple 886051550 G . Uncertain significance 2 2 Bloom syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -317408 Simple 201676342 G . Uncertain significance 2 2 Bloom syndrome 2017-07-06 -0.6 0.5 Uncertain significance 0 -317409 Simple 746602812 T . Uncertain significance 2 2 Bloom syndrome 2016-07-06 -0.6 1.0 Uncertain significance 0 -317412 Simple 886051552 G . Uncertain significance 2 2 Bloom syndrome 2017-06-17 -0.6 0.5 Uncertain significance 0 -317447 Simple 36108138 A . Likely benign 2 2 not provided;Insulin-Like Growth Factor I Resistance 2017-06-19 -6.0 0.5 Likely benign 0 -317666 Simple 148085725 C . Benign/Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-04-26 -11.4 1.0 Benign/Likely benign 0 -317677 Simple 2229318 T . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -317694 Simple 4774 C . Benign 2 2 Bare lymphocyte syndrome 2;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -317701 Simple 2229319 G . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -317702 Simple 78108426 A . Benign/Likely benign 2 3 Bare lymphocyte syndrome 2;not specified 2017-07-24 -15.0 0.6666666666666666 Benign/Likely benign 0 -317706 Simple 35976871 A . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -317708 Simple 13330686 T . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -317709 Simple 13336804 C . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -317710 Simple 2229320 A . Benign 2 2 Bare lymphocyte syndrome 2;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -317712 Simple 34654419 T . Benign 2 2 Bare lymphocyte syndrome 2;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -317713 Simple 45621432 T . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2 2017-08-17 -9.0 0.5 Benign/Likely benign 0 -317714 Simple 2229321 A . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -317717 Simple 2228238 A . Benign 2 2 Bare lymphocyte syndrome 2;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -317718 Simple 7197779 G . Benign 2 2 Bare lymphocyte syndrome 2;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -317721 Simple 140103491 G . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -317782 Simple 4280262 C . Benign 2 2 Charcot-Marie-Tooth disease, type 1C;Charcot-Marie-Tooth, Type 1 2017-04-27 -12.0 0.5 Benign/Likely benign 1 -317787 Simple 759905004 T . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 1 2016-08-21 -0.6 1.0 Uncertain significance 0 -317789 Simple 138041990 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 1C;Charcot-Marie-Tooth, Type 1 2017-06-13 -0.6 0.5 Uncertain significance 0 -317811 Simple 3136151 A . Uncertain significance 2 2 Xeroderma pigmentosum, group F;Cockayne syndrome;Xeroderma pigmentosum;Fanconi anemia, complementation group Q 2017-03-01 -0.6 1.0 Uncertain significance 0 -317817 Simple 2020958 G . Benign/Likely benign 2 2 Xeroderma pigmentosum, group F;Cockayne syndrome;Xeroderma pigmentosum;Fanconi anemia, complementation group Q 2017-07-09 -9.0 0.5 Benign/Likely benign 0 -317881 Simple 76594024 A . Uncertain significance 2 2 not provided;Mucolipidosis, Type III Gamma 2017-05-31 -0.6 0.5 Uncertain significance 0 -317985 Simple 61749517 A . Benign/Likely benign 2 2 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2017-04-19 -9.0 0.5 Benign/Likely benign 0 -317992 Simple 35823417 G . Uncertain significance 2 2 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified 2016-11-23 -0.6 1.0 Uncertain significance 0 -317993 Simple 61745103 T . Benign/Likely benign 2 2 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2017-05-02 -9.0 0.5 Benign/Likely benign 0 -317998 Simple 79494390 G . Benign/Likely benign 2 2 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2017-06-07 -9.0 0.5 Benign/Likely benign 0 -318036 Simple 114855401 T . Benign/Likely benign 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -318037 Simple 142755362 T . Likely benign 2 2 not specified;Lissencephaly, Recessive 2016-07-26 -6.0 1.0 Likely benign 0 -318068 Simple 368310178 A . Uncertain significance 2 2 not specified;Lissencephaly, Recessive 2017-02-15 -0.6 1.0 Uncertain significance 0 -318109 Simple 534983279 C . Uncertain significance 2 3 Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive 2016-10-31 -0.8999999999999999 1.0 Uncertain significance 0 -318113 Simple 143588920 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2017-05-31 -0.6 0.5 Uncertain significance 0 -318181 Simple 34535263 C . Benign/Likely benign 2 2 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2017-04-19 -9.0 0.5 Benign/Likely benign 0 -318313 Simple 752953762 G . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2017-03-22 -0.6 0.5 Uncertain significance 0 -318314 Simple 775195398 A . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -318317 Simple 201633455 A . Likely benign 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2016-12-15 -6.0 1.0 Likely benign 0 -318328 Simple 777489742 T . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -318332 Simple 886051795 A . Uncertain significance 2 3 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2017-05-25 -0.87 1.0 Uncertain significance 0 -318334 Simple 886051796 A . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -318338 Simple 761181064 T . Uncertain significance 2 2 Tuberous sclerosis 2;Tuberous sclerosis syndrome 2016-11-07 -0.6 1.0 Uncertain significance 0 -318486 Simple 149163316 T . Uncertain significance 2 2 Congenital disorder of glycosylation;not provided 2017-07-06 -0.6 0.5 Uncertain significance 0 -318489 Simple 143929832 A . Uncertain significance 2 2 not specified;Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-08-15 -0.6 1.0 Uncertain significance 0 -318561 Simple 371875379 C . Uncertain significance 2 4 Familial cancer of breast;Fanconi anemia;Hereditary cancer-predisposing syndrome 2017-05-01 -1.2 0.5 Uncertain significance 0 -318615 Simple 772768393 A . Uncertain significance 2 2 Myoclonic epilepsy, familial infantile;not specified 2017-01-26 -0.6 1.0 Uncertain significance 0 -318718 Simple 150986176 A . Uncertain significance 2 3 Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-03-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -318726 Simple 760039703 A . Uncertain significance 2 2 not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2017-02-13 -0.6 1.0 Uncertain significance 0 -318764 Simple 75273069 T . Benign 2 2 Brody myopathy;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -318774 Simple 149009015 A . Uncertain significance 2 3 Brody myopathy;not specified 2016-11-07 -0.8999999999999999 1.0 Uncertain significance 0 -318779 Simple 151309999 A . Benign/Likely benign 2 3 Brody myopathy;not specified 2017-08-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -318786 Simple 886051883 A . Uncertain significance 2 2 Brody myopathy;not specified 2017-04-10 -0.6 0.5 Uncertain significance 0 -318787 Simple 2071341 T . Benign/Likely benign 2 3 Brody myopathy;not specified 2017-08-11 -14.4 1.0 Benign/Likely benign 0 -318803 Simple 2904880 G . Benign 2 3 not specified;Common Variable Immune Deficiency, Recessive 2016-09-27 -18.0 1.0 Benign/Likely benign 1 -318811 Simple 34763945 A . Benign/Likely benign 2 3 not specified;Common Variable Immune Deficiency, Recessive 2016-07-26 -15.0 1.0 Benign/Likely benign 0 -318839 Simple 77290575 T . Benign/Likely benign 2 3 HNSHA due to aldolase A deficiency;not specified 2017-07-24 -14.4 1.0 Benign/Likely benign 0 -318840 Simple 138824667 A . Uncertain significance 2 2 HNSHA due to aldolase A deficiency;not specified 2016-11-22 -0.6 1.0 Uncertain significance 0 -318890 Simple 75991082 A . Likely benign 2 2 Floating-Harbor syndrome;not provided 2017-05-03 -6.0 0.5 Likely benign 0 -318985 Simple 73530287 T . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis type 6;Tremor, hereditary essential, 4;Amyotrophic Lateral Sclerosis, Dominant 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -318986 Simple 886051935 CGGCGG . Benign/Likely benign 2 2 not specified;Amyotrophic Lateral Sclerosis, Dominant 2017-02-10 -9.0 1.0 Benign/Likely benign 0 -318990 Simple 61733965 A . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis type 6;Tremor, hereditary essential, 4;Amyotrophic Lateral Sclerosis, Dominant 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -318993 Simple 80301724 A . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 6;not specified;Tremor, hereditary essential, 4;Amyotrophic Lateral Sclerosis, Dominant 2017-08-09 -12.0 0.6666666666666666 Benign/Likely benign 0 -319144 Simple 765960272 C . Uncertain significance 2 2 Fanconi anemia 2017-03-19 -0.6 0.5 Uncertain significance 0 -319146 Simple 377544881 A . Uncertain significance 2 2 Fanconi anemia 2017-07-24 -0.6 0.5 Uncertain significance 0 -319149 Simple 560866356 A . Uncertain significance 2 2 Fanconi anemia 2016-09-25 -0.6 1.0 Uncertain significance 0 -319154 Simple 142040192 T . Uncertain significance 2 2 Fanconi anemia 2017-06-07 -0.6 0.5 Uncertain significance 0 -319160 Simple 200842643 G . Uncertain significance 2 2 Fanconi anemia;not specified 2017-04-10 -0.6 0.5 Uncertain significance 0 -319162 Simple 139287784 T . Uncertain significance 2 2 Fanconi anemia 2017-07-07 -0.6 0.5 Uncertain significance 0 -319164 Simple 145137472 C . Uncertain significance 2 2 Fanconi anemia 2017-07-24 -0.6 0.5 Uncertain significance 0 -319165 Simple 143558209 T . Uncertain significance 2 2 Fanconi anemia 2017-03-17 -0.6 0.5 Uncertain significance 0 -319167 Simple 151026877 T . Uncertain significance 2 2 Fanconi anemia 2017-04-07 -0.6 0.5 Uncertain significance 0 -319169 Simple 200807331 T . Uncertain significance 2 2 Fanconi anemia;not specified 2016-11-02 -0.6 1.0 Uncertain significance 0 -319177 Simple 776189589 G . Uncertain significance 2 2 Fanconi anemia 2016-10-05 -0.6 1.0 Uncertain significance 0 -319216 Simple 200814551 A . Benign/Likely benign 2 2 Nephronophthisis 2016-12-15 -9.0 1.0 Benign/Likely benign 0 -319400 Simple 75818610 A . Benign/Likely benign 2 2 Kohlschutter's syndrome 2017-07-08 -9.0 0.5 Benign/Likely benign 0 -319424 Simple 201586544 T . Uncertain significance 2 3 Blau syndrome;Inflammatory bowel disease 1;Crohn disease 2017-06-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -319429 Simple 2067085 G . Benign 2 3 Blau syndrome;Crohn disease;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -319430 Simple 141833420 C . Benign/Likely benign 2 3 Blau syndrome;Inflammatory bowel disease 1;Crohn disease 2017-08-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -319431 Simple 61755182 T . Likely benign 2 2 Blau syndrome;Inflammatory bowel disease 1;Crohn disease 2017-05-24 -6.0 0.5 Likely benign 0 -319435 Simple 2066842 T . Benign 2 3 Blau syndrome;Crohn disease;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -319443 Simple 77966199 T . Benign/Likely benign 2 3 Blau syndrome;Inflammatory bowel disease 1;Crohn disease 2017-06-29 -12.0 0.6666666666666666 Benign/Likely benign 0 -319445 Simple 2066843 T . Benign 2 3 Blau syndrome;Crohn disease;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -319450 Simple 1861759 G . Benign 2 3 Blau syndrome;Crohn disease;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -319451 Simple 61736932 T . Benign/Likely benign 2 3 Blau syndrome;Inflammatory bowel disease 1;Crohn disease 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -319461 Simple 5743278 G . Benign 2 3 Blau syndrome;Inflammatory bowel disease 1;Crohn disease 2017-06-21 -18.0 0.6666666666666666 Benign/Likely benign 1 -319462 Simple 61747625 T . Likely benign 2 4 Blau syndrome;Inflammatory bowel disease 1;Crohn disease;not provided 2017-07-18 -12.0 0.5 Benign/Likely benign 1 -319468 Simple 765335094 G . Uncertain significance 2 3 Blau syndrome;Inflammatory bowel disease 1;Crohn disease 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -319612 Simple 149603480 T . Likely benign 2 2 Townes-Brocks syndrome 1;not provided 2017-05-15 -6.0 0.5 Likely benign 0 -319668 Simple 151212590 T . Uncertain significance 2 4 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis 2016-11-07 -1.2 1.0 Uncertain significance 0 -319670 Simple 146925098 A . Uncertain significance 2 4 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-04-13 -1.2 0.75 Uncertain significance 0 -319861 Simple 150384293 C . Benign/Likely benign 2 2 Bardet-Biedl syndrome 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -319917 Simple 12708965 T . Benign/Likely benign 2 2 Familial hypokalemia-hypomagnesemia 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -320070 Simple 7190978 T . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2017-06-16 -0.6 0.5 Uncertain significance 0 -320109 Simple 17821448 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2017-01-05 -9.0 1.0 Benign/Likely benign 0 -320110 Simple 13336595 T . Benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2017-01-05 -12.0 1.0 Benign/Likely benign 1 -320324 Simple 746822330 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-05-15 -0.6 0.5 Uncertain significance 0 -320337 Simple 144323646 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-08-08 -12.0 0.6666666666666666 Benign/Likely benign 0 -320342 Simple 79785372 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-02-14 -9.0 1.0 Benign/Likely benign 0 -320343 Simple 150442667 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-06-27 -14.4 1.0 Benign/Likely benign 0 -320348 Simple 11537667 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -320350 Simple 148075561 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2 2017-05-12 -12.0 0.6666666666666666 Benign/Likely benign 0 -320351 Simple 74024185 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -320352 Simple 78523270 A . Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 2 2016-07-21 -6.0 1.0 Likely benign 0 -320354 Simple 747431164 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-07-19 -0.6 0.5 Uncertain significance 0 -320356 Simple 151091410 T . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type 2;not specified;not provided;Charcot-Marie-Tooth, Type 2 2017-08-31 -15.0 0.25 Benign/Likely benign 0 -320375 Simple 80034177 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation type 2J;Congenital disorder of glycosylation;not specified 2016-08-22 -14.4 1.3333333333333333 Benign/Likely benign 0 -320377 Simple 16970243 C . Benign 2 3 Congenital disorder of glycosylation type 2J;Congenital disorder of glycosylation;not specified 2017-06-22 -17.4 1.0 Benign/Likely benign 1 -320404 Simple 16973331 T . Benign/Likely benign 2 2 not specified;Hypertyrosinemia 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -320491 Simple 140017632 G . Uncertain significance 2 2 Spastic paraplegia 35;not specified 2016-09-14 -0.6 1.0 Uncertain significance 0 -320495 Simple 199815871 T . Uncertain significance 2 2 Spastic paraplegia 35;not provided 2016-07-31 -0.6 1.0 Uncertain significance 0 -320611 Simple 117435647 C . Benign/Likely benign 2 2 Macular corneal dystrophy Type I 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -320649 Simple 77470936 T . Benign/Likely benign 2 2 Giant axonal neuropathy 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -320726 Simple 3815806 T . Benign/Likely benign 2 2 Deficiency of malonyl-CoA decarboxylase 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -320738 Simple 200413924 G . Uncertain significance 2 2 Deficiency of malonyl-CoA decarboxylase 2017-01-06 -0.6 1.0 Uncertain significance 0 -320740 Simple 1127368 G . Benign/Likely benign 2 3 Deficiency of malonyl-CoA decarboxylase;not specified 2017-06-23 -15.0 0.6666666666666666 Benign/Likely benign 0 -320840 Simple 2228081 A . Benign/Likely benign 2 2 Gamma-aminobutyric acid transaminase deficiency 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -320846 Simple 145178398 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-12-12 -9.0 1.0 Benign/Likely benign 0 -320849 Simple 138954293 A . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-05-31 -0.6 0.5 Uncertain significance 0 -320864 Simple 28723506 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-30 -9.0 1.0 Benign/Likely benign 0 -320866 Simple 7199961 C . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -320870 Simple 749179728 A . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-01-04 -0.6 1.0 Uncertain significance 0 -320872 Simple 12927001 G . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -320878 Simple 184583062 T . Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified;not provided 2017-06-30 -9.0 0.3333333333333333 Benign/Likely benign 1 -320879 Simple 58401704 T . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-01-04 -9.0 1.0 Benign/Likely benign 0 -320882 Simple 12918876 C . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -320885 Simple 147859144 A . Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-05-26 -6.0 0.5 Likely benign 0 -320886 Simple 113484918 T . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided 2016-12-30 -9.0 1.0 Benign/Likely benign 0 -320889 Simple 145186655 T . Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided 2016-12-30 -6.0 1.0 Likely benign 0 -320894 Simple 886052396 - . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-01-20 -0.6 1.0 Uncertain significance 0 -320895 Simple 60462217 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-20 -9.0 1.0 Benign/Likely benign 0 -320912 Simple 115790991 C . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-30 -9.0 1.0 Benign/Likely benign 0 -320914 Simple 187453092 T . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided 2017-03-31 -0.6 0.5 Uncertain significance 0 -320915 Simple 772817384 G . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-08-24 -0.6 0.5 Uncertain significance 0 -320920 Simple 116532825 G . Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified;not provided 2017-05-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -320922 Simple 116072997 G . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-11-30 -9.0 1.0 Benign/Likely benign 0 -320923 Simple 74032865 T . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-30 -9.0 1.0 Benign/Likely benign 0 -320926 Simple 886052405 - . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-07-24 -0.6 0.5 Uncertain significance 0 -320930 Simple 141666432 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-01-04 -9.0 1.0 Benign/Likely benign 0 -320934 Simple 117310292 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-11-08 -9.0 1.0 Benign/Likely benign 0 -320936 Simple 115487796 T . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified;not provided 2017-01-04 -12.0 1.0 Benign/Likely benign 0 -320939 Simple 568197988 T . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided 2016-08-31 -0.6 1.0 Uncertain significance 0 -320941 Simple 199932922 A . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided 2017-05-31 -0.6 0.5 Uncertain significance 0 -320943 Simple 9931465 G . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -320950 Simple 79155191 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-01-04 -9.0 1.0 Benign/Likely benign 0 -320954 Simple 61472141 A . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-11 -12.0 1.0 Benign/Likely benign 1 -320955 Simple 13334190 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-10 -9.0 1.0 Benign/Likely benign 0 -320957 Simple 12919507 T . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-05 -9.0 1.0 Benign/Likely benign 0 -320962 Simple 77490207 G . Benign/Likely benign 2 3 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified;not provided 2017-01-02 -15.0 1.0 Benign/Likely benign 0 -320967 Simple 12598474 C . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-05 -12.0 1.0 Benign/Likely benign 1 -320972 Simple 141218390 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-05 -9.0 1.0 Benign/Likely benign 0 -320974 Simple 201943633 A . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided 2017-03-31 -0.6 0.5 Uncertain significance 0 -320983 Simple 116696830 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-01-04 -9.0 1.0 Benign/Likely benign 0 -320984 Simple 3812955 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-30 -9.0 1.0 Benign/Likely benign 0 -320985 Simple 3812954 T . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-03 -9.0 1.0 Benign/Likely benign 0 -320986 Simple 553227769 T . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-02-14 -0.6 1.0 Uncertain significance 0 -321006 Simple 867530230 A . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-04-27 -0.6 0.5 Uncertain significance 0 -321014 Simple 569602115 C . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-03-27 -0.6 0.5 Uncertain significance 0 -321017 Simple 78022634 T . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-14 -9.0 1.0 Benign/Likely benign 0 -321018 Simple 57052487 A . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-12-30 -9.0 1.0 Benign/Likely benign 0 -321020 Simple 1105066 C . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -321022 Simple 151127652 A . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-04-17 -0.6 0.5 Uncertain significance 0 -321024 Simple 536054902 G . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-01-27 -0.6 1.0 Uncertain significance 0 -321025 Simple 150233193 C . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-30 -9.0 1.0 Benign/Likely benign 0 -321026 Simple 201834513 A . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-01-31 -0.6 1.0 Uncertain significance 0 -321031 Simple 4782301 G . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -321032 Simple 886052421 A . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -321034 Simple 4782362 T . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -321035 Simple 45504291 A . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-05 -12.0 1.0 Benign/Likely benign 1 -321085 Simple 2229158 T . Benign/Likely benign 2 2 Gamma-aminobutyric acid transaminase deficiency 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -321091 Simple 61730647 T . Benign/Likely benign 2 2 Gamma-aminobutyric acid transaminase deficiency 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -321189 Simple 114703967 A . Benign/Likely benign 2 2 Mucopolysaccharidosis, MPS-IV-A;Morquio syndrome 2017-06-02 -9.0 0.5 Benign/Likely benign 0 -321194 Simple 371459975 T . Uncertain significance 2 2 Morquio syndrome;not specified 2017-05-01 -0.6 0.5 Uncertain significance 0 -321202 Simple 77514811 A . Benign/Likely benign 2 2 Mucopolysaccharidosis, MPS-IV-A;Morquio syndrome 2017-07-18 -9.0 0.5 Benign/Likely benign 0 -321216 Simple 139716296 C . Likely pathogenic 2 2 Carbohydrate-deficient glycoprotein syndrome type I;Congenital disorder of glycosylation 2016-06-14 6.0 1.0 Likely pathogenic 0 -321329 Simple 376523966 T . Uncertain significance 2 2 Fanconi anemia 2017-04-25 -0.6 0.5 Uncertain significance 0 -321331 Simple 765162125 T . Uncertain significance 2 2 Fanconi anemia 2016-06-26 -0.6 1.0 Uncertain significance 0 -321335 Simple 147672303 G . Uncertain significance 2 3 Fanconi anemia;not specified 2017-05-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -321347 Simple 762439008 A . Uncertain significance 2 2 Fanconi anemia 2017-07-12 -0.6 0.5 Uncertain significance 0 -321351 Simple 748579719 C . Uncertain significance 2 2 Fanconi anemia 2017-02-23 -0.6 1.0 Uncertain significance 0 -321359 Simple 17232616 A . Benign/Likely benign 2 2 Fanconi anemia 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -321367 Simple 144917960 A . Benign/Likely benign 2 2 Fanconi anemia 2016-06-20 -9.0 1.0 Benign/Likely benign 0 -321371 Simple 751309143 C . Uncertain significance 2 2 Fanconi anemia 2016-08-30 -0.6 1.0 Uncertain significance 0 -321376 Simple 115856189 A . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-06-16 -11.7 1.0 Benign/Likely benign 0 -321421 Simple 34090186 A . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2017-07-10 -9.0 0.5 Benign/Likely benign 0 -321425 Simple 3212364 A . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2017-05-25 -9.0 0.5 Benign/Likely benign 0 -321427 Simple 201429598 T . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2016-06-24 -9.0 1.0 Benign/Likely benign 0 -321428 Simple 201827012 G . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2016-06-24 -9.0 1.0 Benign/Likely benign 0 -321430 Simple 376670171 T . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2016-10-10 -9.0 1.0 Benign/Likely benign 0 -321433 Simple 3212366 C . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2017-06-02 -9.0 0.5 Benign/Likely benign 0 -321438 Simple 34490506 T . Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2017-01-30 -6.0 1.0 Likely benign 0 -321440 Simple 181269865 T . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2017-06-08 -9.0 0.5 Benign/Likely benign 0 -321442 Simple 151318945 T . Benign/Likely benign 2 2 Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -321611 Simple 373628160 A . Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-06-30 -6.0 1.0 Likely benign 0 -321672 Simple 138265883 A . Uncertain significance 2 2 not specified;Inclusion Body Myopathy, Dominant 2017-06-23 -0.6 0.5 Uncertain significance 0 -321862 Simple 201682989 A . Benign/Likely benign 2 4 Hereditary liability to pressure palsies;Charcot-Marie-Tooth disease, type I;not specified;Charcot-Marie-Tooth, Type 1 2017-06-12 -15.0 0.5 Benign/Likely benign 0 -322025 Simple 34562254 A . Benign 2 3 not specified;Common Variable Immune Deficiency, Dominant 2017-01-07 -18.0 1.0 Benign/Likely benign 1 -322027 Simple 55916807 T . Likely benign 2 2 not specified;Common Variable Immune Deficiency, Dominant 2016-06-14 -5.7 1.5 Likely benign 0 -322061 Simple 748878853 T . Uncertain significance 2 4 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2017-01-13 -1.2 1.0 Uncertain significance 0 -322062 Simple 756944795 C . Uncertain significance 2 4 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome;Spontaneous pneumothorax 2016-11-23 -1.2 1.0 Uncertain significance 0 -322072 Simple 151144873 T . Likely benign 2 3 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2017-04-14 -9.0 0.6666666666666666 Benign/Likely benign 1 -322073 Simple 571154058 C . Likely benign 2 3 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2017-07-10 -9.0 0.6666666666666666 Benign/Likely benign 1 -322076 Simple 115413827 A . Benign 2 3 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -322077 Simple 114481741 A . Benign 2 3 Multiple fibrofolliculomas;not specified;Spontaneous pneumothorax 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -322159 Simple 370351502 G . Uncertain significance 2 2 not provided;Nonsyndromic Hearing Loss, Recessive 2016-10-31 -0.6 1.0 Uncertain significance 0 -322200 Simple 2296978 T . Benign/Likely benign 2 2 Meckel-Gruber syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -322210 Simple 115977487 T . Likely benign 2 2 Sjögren-Larsson syndrome;not provided 2017-04-24 -6.0 0.5 Likely benign 0 -322216 Simple 140519419 G . Uncertain significance 2 2 Sjögren-Larsson syndrome;not provided 2016-11-03 -0.6 1.0 Uncertain significance 0 -322414 Simple 2071587 T . Benign 2 3 T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -322424 Simple 35240903 C . Benign/Likely benign 2 2 T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -322425 Simple 12449554 C . Benign 2 3 T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -322427 Simple 2286521 T . Benign 2 3 T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -322430 Simple 61749867 T . Benign/Likely benign 2 4 T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified 2017-08-11 -21.0 0.75 Benign/Likely benign 0 -322433 Simple 34814444 A . Uncertain significance 2 2 T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified 2017-06-29 -0.6 0.5 Uncertain significance 0 -322436 Simple 532648 C . Benign 2 3 T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified 2016-06-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -322566 Simple 886052796 - . Benign/Likely benign 2 5 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;not specified 2016-11-16 -18.0 1.0 Benign/Likely benign 0 -322569 Simple 770201871 G . Uncertain significance 2 6 Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Hereditary cancer-predisposing syndrome 2016-08-30 -1.7999999999999998 1.0 Uncertain significance 0 -322836 Simple 144751390 T . Uncertain significance 2 3 Cystinosis;Nephropathic cystinosis;not specified 2016-08-25 -0.8999999999999999 1.0 Uncertain significance 0 -322943 Simple 8068014 C . Benign 2 2 Familial hypoplastic, glomerulocystic kidney;Monogenic diabetes 2016-10-11 -12.0 1.0 Benign/Likely benign 1 -322975 Simple 200936863 T . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2017-03-02 -0.6 1.0 Uncertain significance 0 -322986 Simple 147966258 A . Uncertain significance 2 2 not specified;Congenital Stationary Night Blindness, Recessive 2017-06-30 -0.6 0.5 Uncertain significance 0 -323185 Simple 782660556 A . Uncertain significance 2 2 not specified;Osteogenesis Imperfecta, Recessive 2017-01-17 -0.6 1.0 Uncertain significance 0 -323421 Simple 886052975 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.75 Benign/Likely benign 1 -323466 Simple 73306693 G . Benign/Likely benign 2 2 Severe congenital neutropenia 4, autosomal recessive;Severe congenital neutropenia 2017-07-07 -9.0 0.5 Benign/Likely benign 0 -323467 Simple 34406052 T . Benign/Likely benign 2 2 Severe congenital neutropenia 4, autosomal recessive;Severe congenital neutropenia 2017-07-07 -9.0 0.5 Benign/Likely benign 0 -323624 Simple 115282391 T . Likely benign 2 2 Alexander's disease;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -323771 Simple 151099014 A . Benign/Likely benign 2 4 Koolen-de Vries syndrome;not specified;not provided;Intellectual disability syndrome 2017-04-05 -15.0 0.5 Benign/Likely benign 0 -323794 Simple 138175526 G . Benign/Likely benign 2 4 Koolen-de Vries syndrome;not specified;not provided;Intellectual disability syndrome 2017-06-16 -21.0 0.5 Benign/Likely benign 0 -323798 Simple 140268765 G . Likely benign 2 3 Koolen-de Vries syndrome;not specified;Intellectual disability syndrome 2017-08-02 -9.0 0.3333333333333333 Benign/Likely benign 1 -323799 Simple 200079769 A . Benign/Likely benign 2 2 not specified;Intellectual disability syndrome 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -323984 Simple 886053123 CTGGGGCTGGGG . Uncertain significance 2 2 Myasthenic syndrome, congenital, 4a, slow-channel;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-05-27 -0.6 0.5 Uncertain significance 0 -323987 Simple 140023380 T . Uncertain significance 2 2 Myasthenic syndrome, congenital, 4a, slow-channel;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-07-05 -0.6 0.5 Uncertain significance 0 -324100 Simple 1800218 G . Benign/Likely benign 2 5 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2017-06-21 -21.0 0.8 Benign/Likely benign 0 -324102 Simple 767525556 G . Uncertain significance 2 4 Infantile cortical hyperostosis;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2017-10-17 -1.2 0.75 Uncertain significance 0 -324103 Simple 575285203 T . Uncertain significance 2 4 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;Osteogenesis Imperfecta, Dominant 2017-03-06 -1.2 0.75 Uncertain significance 0 -324107 Simple 41316685 T . Benign/Likely benign 2 4 Infantile cortical hyperostosis;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2017-01-04 -15.0 1.0 Benign/Likely benign 0 -324108 Simple 1800214 C . Uncertain significance 2 5 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant 2017-07-18 -1.5 0.6 Uncertain significance 0 -324120 Simple 41317345 T . Benign/Likely benign 2 4 Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;Osteogenesis Imperfecta, Dominant 2017-05-30 -15.0 0.75 Benign/Likely benign 0 -324134 Simple 366577 T . Benign 2 2 Glycogen storage disease type 13;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -324136 Simple 238238 G . Benign 2 2 Glycogen storage disease type 13;not specified;not provided 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -324137 Simple 143945974 C . Benign/Likely benign 2 2 Glycogen storage disease type 13;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -324138 Simple 238239 C . Benign 2 2 Glycogen storage disease type 13;not specified;not provided 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -324148 Simple 2230257 T . Benign/Likely benign 2 2 Glycogen storage disease type 13;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -324149 Simple 61735456 A . Benign/Likely benign 2 2 Glycogen storage disease type 13;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -324152 Simple 73973669 G . Benign/Likely benign 2 2 Glycogen storage disease type 13;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -324158 Simple 775558298 A . Uncertain significance 2 3 Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome 2016-08-22 -0.8999999999999999 1.0 Uncertain significance 0 -324234 Simple 147624521 G . Uncertain significance 2 2 not provided;Retinitis Pigmentosa, Dominant 2017-01-31 -0.6 1.0 Uncertain significance 0 -324249 Simple 3744447 G . Benign 2 2 Ischiopatellar dysplasia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -324349 Simple 886053214 T . Uncertain significance 2 3 Fanconi anemia;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-05-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -324351 Simple 886053215 G . Uncertain significance 2 3 Fanconi anemia;Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-05-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -324460 Simple 6173 C . Benign/Likely benign 2 2 Ateleiotic dwarfism;Autosomal dominant isolated somatotropin deficiency;Kowarski syndrome;Isolated growth hormone deficiency type 1B;Isolated Growth Hormone Deficiency 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -324507 Simple 531694454 T . Benign/Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-11-04 -21.0 1.0 Benign/Likely benign 0 -324509 Simple 113418988 A . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-12-19 -24.0 1.0 Benign 1 -324513 Simple 769625349 A . Benign/Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-11-08 -21.0 1.0 Benign/Likely benign 0 -324514 Simple 772552529 A . Uncertain significance 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-07-11 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -324527 Simple 374039266 A . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-02-10 -24.0 1.0 Benign 1 -324529 Simple 111858905 T . Benign/Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-11-01 -21.0 1.0 Benign/Likely benign 0 -324534 Simple 372019457 C . Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-08-17 -18.0 1.0 Benign/Likely benign 1 -324538 Simple 201199086 A . Benign/Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-01-24 -21.0 1.0 Benign/Likely benign 0 -324541 Simple 182691342 C . Benign/Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-08-02 -21.0 0.8333333333333334 Benign/Likely benign 0 -324542 Simple 527384137 T . Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-03-28 -18.0 0.8333333333333334 Benign/Likely benign 1 -324545 Simple 369445518 A . Benign/Likely benign 2 7 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-07-18 -27.0 0.8571428571428571 Benign 1 -324549 Simple 560230431 T . Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-06-16 -18.0 0.8333333333333334 Benign/Likely benign 1 -324550 Simple 191547933 T . Benign/Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2017-06-27 -21.0 0.8333333333333334 Benign/Likely benign 0 -324554 Simple 886053250 G . Uncertain significance 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-11-28 -1.7999999999999998 1.0 Uncertain significance 0 -324557 Simple 575313119 A . Benign/Likely benign 2 6 Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis 2016-10-19 -21.0 1.0 Benign/Likely benign 0 -324645 Simple 200883019 A . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome 2017-04-20 -9.0 0.5 Benign/Likely benign 0 -324646 Simple 376936740 A . Uncertain significance 2 3 Oligodontia-colorectal cancer syndrome;not specified 2017-09-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -324649 Simple 200325634 T . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -324680 Simple 565020131 C . Likely benign 2 2 Oligodontia-colorectal cancer syndrome 2017-06-10 -6.0 0.5 Likely benign 0 -324783 Simple 200592054 T . Benign/Likely benign 2 4 Carney complex, type 1;Carney complex;Hereditary cancer-predisposing syndrome;Acrodysostosis 2017-07-28 -18.0 0.5 Benign/Likely benign 0 -324829 Simple 144760658 T . Benign/Likely benign 2 4 Andersen Tawil syndrome;short QT syndrome;not specified;Familial atrial fibrillation 2016-08-24 -15.0 1.0 Benign/Likely benign 0 -324830 Simple 766143485 A . Uncertain significance 2 4 Andersen Tawil syndrome;short QT syndrome;not specified;Familial atrial fibrillation 2017-03-07 -1.2 0.75 Uncertain significance 0 -324832 Simple 544384907 T . Benign/Likely benign 2 4 Andersen Tawil syndrome;Short QT syndrome 3;short QT syndrome;Familial atrial fibrillation 2017-06-16 -15.0 0.75 Benign/Likely benign 0 -324918 Simple 776337541 GCCGCC . Uncertain significance 2 2 Camptomelic dysplasia;not specified 2017-01-30 -0.6 1.0 Uncertain significance 0 -324975 Simple 148773959 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not provided 2017-09-11 -0.6 0.5 Uncertain significance 0 -324989 Simple 749159573 G . Uncertain significance 2 2 Very long chain acyl-CoA dehydrogenase deficiency 2016-06-25 -0.6 1.0 Uncertain significance 0 -325014 Simple 773061334 T . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-04-06 -0.6 0.5 Uncertain significance 0 -325232 Simple 149825190 A . Uncertain significance 2 2 Deficiency of galactokinase 2017-04-04 -0.6 0.5 Uncertain significance 0 -325252 Simple 149871493 T . Uncertain significance 2 2 Familial hemophagocytic lymphohistiocytosis;not specified 2017-05-07 -0.6 0.5 Uncertain significance 0 -325520 Simple 16956808 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation type 1F;Congenital disorder of glycosylation;not specified 2017-02-14 -14.4 1.3333333333333333 Benign/Likely benign 0 -325539 Simple 61744333 T . Benign/Likely benign 2 2 not specified;Hereditary Neuralgic Amyotrophy (HNA) 2016-12-20 -9.0 1.0 Benign/Likely benign 0 -325543 Simple 34587622 T . Benign 2 2 not specified;Hereditary Neuralgic Amyotrophy (HNA) 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -325552 Simple 3765043 T . Benign 2 2 not specified;Hereditary Neuralgic Amyotrophy (HNA) 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -325568 Simple 2627223 G . Benign 2 2 not specified;Hereditary Neuralgic Amyotrophy (HNA) 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -325650 Simple 17880282 T . Benign/Likely benign 2 3 Li-Fraumeni syndrome;not specified;Dyskeratosis Congenita, Recessive 2017-04-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -325697 Simple 9903215 T . Likely benign 2 2 not provided;Desbuquois Dysplasia 2017-06-14 -6.0 0.5 Likely benign 0 -325748 Simple 773033304 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-06-09 -0.6 0.5 Uncertain significance 0 -325750 Simple 778612110 C . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-08-16 -0.6 1.0 Uncertain significance 0 -325774 Simple 550609502 T . Uncertain significance 2 2 Glycogen storage disease, type II 2017-07-18 -0.6 0.5 Uncertain significance 0 -325777 Simple 772908626 C . Uncertain significance 2 2 Glycogen storage disease, type II 2017-07-11 -0.6 0.5 Uncertain significance 0 -325778 Simple 376685205 A . Uncertain significance 2 2 Glycogen storage disease, type II 2017-06-20 -0.6 0.5 Uncertain significance 0 -325783 Simple 758283022 T . Uncertain significance 2 2 Glycogen storage disease, type II 2016-12-30 -0.6 1.0 Uncertain significance 0 -325791 Simple 372800172 C . Uncertain significance 2 2 Glycogen storage disease, type II 2017-07-05 -0.6 0.5 Uncertain significance 0 -325793 Simple 746779016 T . Uncertain significance 2 2 Glycogen storage disease, type II 2017-03-20 -0.6 0.5 Uncertain significance 0 -325845 Simple 761780038 A . Uncertain significance 2 2 Mucopolysaccharidosis, MPS-III-A;Sanfilippo syndrome;Mucopolysaccharidosis Type III 2017-07-05 -0.6 0.5 Uncertain significance 0 -325906 Simple 872029 G . Benign 2 2 Cutis laxa, recessive;not specified 2016-10-20 -12.0 1.0 Benign/Likely benign 1 -325907 Simple 149159844 A . Likely benign 2 2 Cutis laxa, recessive;not specified 2017-10-24 -6.0 0.5 Likely benign 0 -325920 Simple 376495113 G . Uncertain significance 2 2 Cutis laxa, recessive;not specified 2017-11-28 -0.6 0.5 Uncertain significance 0 -326063 Simple 115990839 C . Benign/Likely benign 2 2 Dyskeratosis congenita;Dyskeratosis Congenita, Recessive 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -326068 Simple 3027242 G . Benign/Likely benign 2 3 Dyskeratosis congenita;not specified;Dyskeratosis Congenita, Recessive 2017-07-19 -15.0 0.6666666666666666 Benign/Likely benign 0 -326074 Simple 3027235 A . Benign/Likely benign 2 3 Dyskeratosis congenita;not specified;Dyskeratosis Congenita, Recessive 2017-08-04 -15.0 0.6666666666666666 Benign/Likely benign 0 -326075 Simple 200222583 A . Uncertain significance 2 2 not provided;Dyskeratosis Congenita, Recessive 2017-01-31 -0.6 1.0 Uncertain significance 0 -326082 Simple 78390421 C . Benign/Likely benign 2 2 Dyskeratosis congenita;Dyskeratosis Congenita, Recessive 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -326084 Simple 571035242 A . Uncertain significance 2 2 not specified;Dyskeratosis Congenita, Recessive 2016-07-28 -0.6 1.0 Uncertain significance 0 -326087 Simple 73244859 C . Benign/Likely benign 2 3 Dyskeratosis congenita;not specified;Dyskeratosis Congenita, Recessive 2017-07-16 -15.0 0.6666666666666666 Benign/Likely benign 0 -326089 Simple 116271319 C . Benign/Likely benign 2 2 Dyskeratosis congenita;Dyskeratosis Congenita, Recessive 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -326104 Simple 551015841 A . Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-02-06 -6.0 1.0 Likely benign 0 -326108 Simple 141538541 A . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -326112 Simple 533823759 - . Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-04-07 -6.0 0.5 Likely benign 0 -326114 Simple 777868371 G . Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-12-08 -6.0 1.0 Likely benign 0 -326191 Simple 28926182 C . Benign/Likely benign 2 2 not provided;Glucocorticoid Deficiency 2016-12-30 -9.0 1.0 Benign/Likely benign 0 -326230 Simple 60178443 G . Benign/Likely benign 2 3 Microcephaly with mental retardation and digital anomalies;Seckel syndrome;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -326235 Simple 201195506 A . Uncertain significance 2 3 Microcephaly with mental retardation and digital anomalies;Seckel syndrome;not specified 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -326264 Simple 777156729 T . Uncertain significance 2 2 Niemann-Pick disease type C1;Niemann-Pick disease, type C 2017-07-27 -0.6 0.5 Uncertain significance 0 -326274 Simple 61731965 A . Benign/Likely benign 2 2 Niemann-Pick disease type C1;Niemann-Pick disease, type C 2016-07-21 -9.0 1.0 Benign/Likely benign 0 -326303 Simple 139348197 C . Uncertain significance 2 3 Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional;not specified 2017-01-23 -0.8999999999999999 1.0 Uncertain significance 0 -326473 Simple 748684045 T . Uncertain significance 2 3 not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2016-07-05 -0.8999999999999999 1.0 Uncertain significance 0 -326474 Simple 772744115 T . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2016-09-04 -0.8999999999999999 1.0 Uncertain significance 0 -326485 Simple 763315024 G . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2017-07-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -326488 Simple 764925318 C . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 10;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2017-04-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -326489 Simple 886053716 C . Uncertain significance 2 3 not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant 2017-10-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -326632 Simple 200648652 T . Uncertain significance 2 2 Majeed syndrome;not specified 2017-06-22 -0.6 0.5 Uncertain significance 0 -326633 Simple 147203309 A . Uncertain significance 2 2 Majeed syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -326636 Simple 372850864 A . Uncertain significance 2 3 Majeed syndrome;not specified 2017-04-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -326641 Simple 777239535 A . Uncertain significance 2 2 Majeed syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -326645 Simple 200130790 A . Uncertain significance 2 2 Majeed syndrome 2016-12-13 -0.6 1.0 Uncertain significance 0 -326646 Simple 201678207 A . Uncertain significance 2 2 Majeed syndrome;not specified 2016-10-25 -0.6 1.0 Uncertain significance 0 -326652 Simple 58940048 C . Benign/Likely benign 2 2 Majeed syndrome;not specified 2016-10-19 -9.0 1.0 Benign/Likely benign 0 -326653 Simple 59096963 C . Benign/Likely benign 2 2 Majeed syndrome;not specified 2016-10-19 -9.0 1.0 Benign/Likely benign 0 -326708 Simple 2229334 A . Benign/Likely benign 2 2 Holoprosencephaly 4;Holoprosencephaly 2016-09-07 -9.0 1.0 Benign/Likely benign 0 -326725 Simple 3085861 TCTT . Benign 2 2 Schinzel-Giedion syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -326738 Simple 138515058 A . Likely benign 2 2 Schinzel-Giedion syndrome;not provided 2016-06-29 -6.0 1.0 Likely benign 0 -326762 Simple 145996171 A . Benign/Likely benign 2 2 Schinzel-Giedion syndrome;not specified 2017-05-08 -9.0 0.5 Benign/Likely benign 0 -326903 Simple 61729806 C . Likely benign 2 3 Dyggve-Melchior-Clausen syndrome;not provided;Smith-McCort dysplasia 2017-08-11 -9.0 0.6666666666666666 Benign/Likely benign 1 -327010 Simple 2276170 T . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327014 Simple 488890 G . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327017 Simple 1942418 T . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327025 Simple 3826579 A . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327028 Simple 75971548 G . Benign/Likely benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -327030 Simple 2276176 G . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327031 Simple 397841722 GAGGAG . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327053 Simple 2298628 T . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327057 Simple 56278513 - . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327063 Simple 17715416 G . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327075 Simple 17659179 A . Benign/Likely benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -327087 Simple 1815930 C . Benign 2 2 not specified;Diarrhea with Microvillus Atrophy 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327111 Simple 757971589 A . Conflicting interpretations of pathogenicity 1 5 Myhre syndrome;Osler hemorrhagic telangiectasia syndrome;Hereditary cancer-predisposing syndrome;Juvenile Polyposis 2016-09-05 -4.2 1.0 Likely benign 2 -327305 Simple 200800656 T . Likely benign 2 2 Pitt-Hopkins syndrome;not specified 2016-10-25 -6.0 1.0 Likely benign 0 -327470 Simple 34729241 T . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -327474 Simple 34451179 T . Benign/Likely benign 2 2 not specified;Familial Intrahepatic Cholestasis 2016-09-26 -9.0 1.0 Benign/Likely benign 0 -327484 Simple 33963153 T . Benign/Likely benign 2 3 not specified;not provided;Familial Intrahepatic Cholestasis 2017-01-23 -11.4 1.3333333333333333 Benign/Likely benign 0 -327498 Simple 150844949 A . Uncertain significance 2 2 not specified;Familial Intrahepatic Cholestasis 2016-11-03 -0.6 1.0 Uncertain significance 0 -327710 Simple 80008675 T . Benign/Likely benign 2 2 Hennekam lymphangiectasia-lymphedema syndrome;not provided 2016-07-22 -9.0 1.0 Benign/Likely benign 0 -327729 Simple 35211496 T . Benign/Likely benign 2 3 not specified;Osteopetrosis;Paget disease of bone 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -327761 Simple 74941514 CTCCTC . Benign 2 2 not specified;Disease Association NOS 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -327802 Simple 112669427 T . Likely benign 2 2 Aural atresia, congenital;not provided 2016-07-22 -6.0 1.0 Likely benign 0 -327900 Simple 45484792 T . Likely benign 2 3 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-06-08 -9.0 0.6666666666666666 Benign/Likely benign 1 -327901 Simple 61750051 A . Benign/Likely benign 2 2 Hereditary sensory neuropathy type IE;Dementia, Deafness, and Sensory Neuropathy 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -327902 Simple 74505694 A . Benign/Likely benign 2 4 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-07-10 -21.0 0.75 Benign/Likely benign 0 -327904 Simple 112660071 T . Benign/Likely benign 2 2 not specified;Dementia, Deafness, and Sensory Neuropathy 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -327907 Simple 61750052 A . Benign/Likely benign 2 3 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -327910 Simple 75443147 A . Benign/Likely benign 2 3 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-07-10 -15.0 0.6666666666666666 Benign/Likely benign 0 -327917 Simple 16999358 A . Benign 2 2 Hereditary sensory neuropathy type IE;Dementia, Deafness, and Sensory Neuropathy 2017-07-27 -12.0 0.5 Benign/Likely benign 1 -327918 Simple 61758431 C . Likely benign 2 2 Hereditary sensory neuropathy type IE;Dementia, Deafness, and Sensory Neuropathy 2017-08-02 -6.0 0.5 Likely benign 0 -327925 Simple 143904813 A . Benign/Likely benign 2 3 Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy 2017-03-31 -11.4 1.0 Benign/Likely benign 0 -327927 Simple 75616428 G . Benign 2 2 Hereditary sensory neuropathy type IE;Dementia, Deafness, and Sensory Neuropathy 2017-07-27 -12.0 0.5 Benign/Likely benign 1 -327936 Simple 12720319 C . Benign/Likely benign 2 3 Tyrosine kinase 2 deficiency;not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -327945 Simple 12720276 C . Benign/Likely benign 2 3 Tyrosine kinase 2 deficiency;not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-08-07 -14.4 1.0 Benign/Likely benign 0 -327946 Simple 140594440 T . Uncertain significance 2 2 Tyrosine kinase 2 deficiency;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-07-10 -0.6 0.5 Uncertain significance 0 -327948 Simple 142576987 T . Uncertain significance 2 2 Tyrosine kinase 2 deficiency;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-07-17 -0.6 0.5 Uncertain significance 0 -327950 Simple 201240289 A . Uncertain significance 2 2 Tyrosine kinase 2 deficiency;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-07-19 -0.6 0.5 Uncertain significance 0 -327952 Simple 12720266 A . Benign/Likely benign 2 3 Tyrosine kinase 2 deficiency;not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-08-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -327958 Simple 12720263 T . Benign/Likely benign 2 3 Tyrosine kinase 2 deficiency;not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-08-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -327962 Simple 144960992 G . Uncertain significance 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-02-20 -0.6 1.0 Uncertain significance 0 -327963 Simple 77948647 C . Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-05-19 -6.0 0.5 Likely benign 0 -327974 Simple 766121627 G . Likely benign 2 3 not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-08-17 -9.0 0.6666666666666666 Benign/Likely benign 1 -327978 Simple 150975494 T . Benign/Likely benign 2 3 not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -327981 Simple 376753915 A . Likely benign 2 3 not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -327983 Simple 372876881 T . Uncertain significance 2 3 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-04-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -327986 Simple 149164657 A . Benign/Likely benign 2 5 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-03-26 -21.0 0.8 Benign/Likely benign 0 -327987 Simple 142963320 T . Uncertain significance 2 3 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -327988 Simple 147463138 A . Likely benign 2 4 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-10 -11.7 1.0 Benign/Likely benign 1 -327989 Simple 200968756 A . Likely benign 2 3 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-07-31 -9.0 0.6666666666666666 Benign/Likely benign 1 -327990 Simple 200100669 A . Benign/Likely benign 2 4 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2017-10-04 -15.0 0.5 Benign/Likely benign 0 -327995 Simple 369529119 T . Likely benign 2 3 not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate 2016-08-16 -9.0 1.0 Benign/Likely benign 1 -328016 Simple 574982898 T . Likely benign 2 2 not specified;Coffin-Siris syndrome 2017-07-28 -6.0 0.5 Likely benign 0 -328019 Simple 112825147 C . Benign/Likely benign 2 3 not specified;not provided;Coffin-Siris syndrome 2017-10-20 -12.0 0.3333333333333333 Benign/Likely benign 0 -328021 Simple 111447132 G . Benign 2 2 not specified;Coffin-Siris syndrome 2016-06-29 -12.0 1.0 Benign/Likely benign 1 -328022 Simple 886054151 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Coffin-Siris syndrome 2016-11-15 -0.6 1.0 Uncertain significance 0 -328024 Simple 113870824 T . Likely benign 2 2 not specified;Coffin-Siris syndrome 2017-10-20 -6.0 0.5 Likely benign 0 -328027 Simple 149342641 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-07 -8.7 1.0 Benign/Likely benign 1 -328028 Simple 17001090 T . Benign/Likely benign 2 2 not specified;Coffin-Siris syndrome 2016-12-16 -9.0 1.0 Benign/Likely benign 0 -328032 Simple 372877301 A . Likely benign 2 2 not specified;Coffin-Siris syndrome 2017-10-31 -6.0 0.5 Likely benign 0 -328033 Simple 190104006 C . Benign/Likely benign 2 2 not specified;Coffin-Siris syndrome 2017-05-26 -9.0 0.5 Benign/Likely benign 0 -328039 Simple 886054155 A . Uncertain significance 2 2 Obesity;Rhabdoid tumor predisposition syndrome 2;intellectual deficiency;Coffin-Siris syndrome 2017-05-18 -0.6 0.5 Uncertain significance 0 -328040 Simple 149670457 T . Benign/Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome 2017-08-07 -11.7 1.0 Benign/Likely benign 0 -328041 Simple 34930626 A . Benign/Likely benign 2 3 not specified;not provided;Coffin-Siris syndrome 2017-05-30 -15.0 0.6666666666666666 Benign/Likely benign 0 -328042 Simple 113131294 C . Likely benign 2 2 not specified;Coffin-Siris syndrome 2017-06-15 -6.0 0.5 Likely benign 0 -328055 Simple 369551855 A . Uncertain significance 2 2 Familial hypercholesterolemia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -328229 Simple 886054216 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-11-09 -0.6 1.0 Uncertain significance 0 -328230 Simple 886054217 GG . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-08-23 -8.7 1.3333333333333333 Benign/Likely benign 1 -328231 Simple 886054218 T . Uncertain significance 2 2 Peutz-Jeghers syndrome 2016-12-21 -0.6 1.0 Uncertain significance 0 -328258 Simple 10410289 C . Benign/Likely benign 2 2 Deficiency of alpha-mannosidase 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -328261 Simple 28639634 G . Benign/Likely benign 2 2 Deficiency of alpha-mannosidase 2017-07-18 -9.0 0.5 Benign/Likely benign 0 -328281 Simple 370803545 A . Pathogenic 2 2 Deficiency of alpha-mannosidase 2016-09-12 12.0 1.0 Pathogenic/Likely pathogenic 1 -328291 Simple 62619782 A . Benign/Likely benign 2 2 Aicardi Goutieres syndrome 4;Aicardi Goutieres syndrome 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -328297 Simple 76634951 T . Benign/Likely benign 2 3 Aicardi Goutieres syndrome 4;Aicardi Goutieres syndrome;not specified 2017-08-21 -15.0 0.6666666666666666 Benign/Likely benign 0 -328333 Simple 201509112 A . Uncertain significance 2 2 not specified;Glutaric acidemia 2016-11-23 -0.6 1.0 Uncertain significance 0 -328350 Simple 77168423 T . Uncertain significance 2 3 Deficiency of guanidinoacetate methyltransferase;Cerebral creatine deficiency syndrome;not specified 2017-05-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -328353 Simple 886054248 T . Uncertain significance 2 2 Deficiency of guanidinoacetate methyltransferase;not specified 2017-08-03 -0.6 0.5 Uncertain significance 0 -328393 Simple 55882518 A . Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not provided 2017-05-02 -6.0 0.5 Likely benign 0 -328402 Simple 370422650 A . Uncertain significance 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not provided 2017-06-30 -0.6 0.5 Uncertain significance 0 -328404 Simple 758913191 A . Uncertain significance 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-04-17 -0.6 0.5 Uncertain significance 0 -328410 Simple 75617410 A . Benign/Likely benign 2 2 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -328418 Simple 147373451 C . Benign/Likely benign 2 3 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified 2017-05-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -328522 Simple 56384680 T . Uncertain significance 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;Severe Combined Immune Deficiency 2017-07-14 -0.6 0.5 Uncertain significance 0 -328541 Simple 73520745 A . Benign/Likely benign 2 2 not provided;Thyroid Hormonogenesis Defect 2016-10-11 -9.0 1.0 Benign/Likely benign 0 -328587 Simple 401502 G . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -328588 Simple 375947 G . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -328596 Simple 17852635 A . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -328597 Simple 11575934 C . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -328598 Simple 11575926 T . Benign/Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -328599 Simple 11086087 G . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -328604 Simple 17887176 A . Benign/Likely benign 2 2 Immunodeficiency 30;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -328605 Simple 436857 A . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -328609 Simple 116499541 T . Likely benign 2 3 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple Epiphyseal Dysplasia, Dominant;not provided 2017-04-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -328626 Simple 554031979 C . Likely benign 2 3 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple Epiphyseal Dysplasia, Dominant;not specified 2016-11-10 -9.0 1.0 Benign/Likely benign 1 -328640 Simple 34282046 C . Benign/Likely benign 2 2 not specified;MHC Class II Deficiency 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -328647 Simple 73922830 G . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2;MHC Class II Deficiency 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -328648 Simple 1802498 G . Benign/Likely benign 2 2 Bare lymphocyte syndrome 2;MHC Class II Deficiency 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -328791 Simple 17570 A . Benign 2 2 Prolidase deficiency;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -328796 Simple 2230062 T . Likely benign 2 2 Prolidase deficiency;not provided 2017-03-29 -6.0 0.5 Likely benign 0 -328799 Simple 17569 A . Benign 2 2 Prolidase deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -328812 Simple 3745969 G . Benign/Likely benign 2 2 Prolidase deficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -328904 Simple 147077663 C . Uncertain significance 2 2 not provided;Primary Microcephaly 2 With or Without Cortical Malformations 2016-12-31 -0.6 1.0 Uncertain significance 0 -328905 Simple 146274964 A . Uncertain significance 2 3 not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2017-01-26 -0.87 1.3333333333333333 Uncertain significance 0 -328920 Simple 749528768 T . Uncertain significance 2 2 not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -328933 Simple 138814793 A . Uncertain significance 2 2 not specified;Primary Microcephaly 2 With or Without Cortical Malformations 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -328998 Simple 375402078 T . Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-05-26 -18.0 0.8333333333333334 Benign/Likely benign 1 -329010 Simple 201599911 G . Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2016-06-14 -14.7 1.2 Benign/Likely benign 1 -329012 Simple 139849689 T . Benign/Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;RYR1-Related Disorders 2017-03-30 -18.0 0.8 Benign/Likely benign 0 -329014 Simple 144350050 C . Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-06-01 -18.0 0.8333333333333334 Benign/Likely benign 1 -329016 Simple 372178862 A . Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified 2017-08-23 -15.0 0.8 Benign/Likely benign 1 -329025 Simple 200289457 A . Uncertain significance 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not provided;RYR1-Related Disorders 2017-02-28 -1.7999999999999998 1.0 Uncertain significance 0 -329043 Simple 199947661 C . Uncertain significance 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not provided;RYR1-Related Disorders 2017-05-26 -1.7999999999999998 0.6666666666666666 Uncertain significance 0 -329050 Simple 117886618 T . Benign/Likely benign 2 2 Malignant hyperthermia susceptibility;RYR1-Related Disorders 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -329052 Simple 375640581 A . Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;RYR1-Related Disorders 2017-08-14 -15.0 0.8 Benign/Likely benign 1 -329067 Simple 199636890 T . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-06-27 -20.7 1.0 Benign/Likely benign 0 -329072 Simple 201877620 A . Benign/Likely benign 2 6 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders 2017-04-27 -21.0 0.8333333333333334 Benign/Likely benign 0 -329088 Simple 2915960 T . Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;RYR1-Related Disorders 2017-07-06 -15.0 0.8 Benign/Likely benign 1 -329096 Simple 187018043 A . Benign/Likely benign 2 5 Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;RYR1-Related Disorders 2017-08-15 -18.0 0.8 Benign/Likely benign 0 -329215 Simple 60352446 - . Benign/Likely benign 2 2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis;not specified 2017-10-24 -9.0 0.5 Benign/Likely benign 0 -329237 Simple 367573123 T . Benign/Likely benign 2 3 Jarcho-Levin syndrome;not specified;Syndactyly 2016-10-10 -12.0 1.0 Benign/Likely benign 0 -329246 Simple 372582520 T . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-05-02 -0.6 0.5 Uncertain significance 0 -329255 Simple 139950446 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-07-20 -15.0 0.6666666666666666 Benign/Likely benign 0 -329257 Simple 368459753 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-05-23 -0.6 0.5 Uncertain significance 0 -329259 Simple 61733451 C . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-07-17 -14.4 1.0 Benign/Likely benign 0 -329260 Simple 146222815 T . Uncertain significance 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-07-25 -1.2 0.5 Uncertain significance 0 -329264 Simple 61735546 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -329268 Simple 779294844 T . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth, Type 4 2017-02-15 -0.6 1.0 Uncertain significance 0 -329270 Simple 61735531 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -329271 Simple 118003416 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-06-27 -12.0 0.6666666666666666 Benign/Likely benign 0 -329274 Simple 139586219 T . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-06-27 -12.0 0.6666666666666666 Benign/Likely benign 0 -329288 Simple 4803335 T . Benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-08-09 -12.0 0.5 Benign/Likely benign 1 -329310 Simple 33937741 G . Benign/Likely benign 2 2 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-09-30 -9.0 1.0 Benign/Likely benign 0 -329312 Simple 34299942 G . Benign/Likely benign 2 2 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-10-25 -9.0 1.0 Benign/Likely benign 0 -329330 Simple 1051481 A . Benign 2 2 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified 2016-10-05 -12.0 1.0 Benign/Likely benign 1 -329391 Simple 149249194 G . Benign/Likely benign 2 2 Diamond-Blackfan anemia 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -329403 Simple 35272495 A . Benign/Likely benign 2 3 Dystonia 12;Alternating hemiplegia of childhood 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -329404 Simple 45606534 T . Benign/Likely benign 2 4 Dystonia 12;not specified;Alternating hemiplegia of childhood 2017-08-02 -18.0 0.5 Benign/Likely benign 0 -329406 Simple 145374789 T . Benign/Likely benign 2 3 Dystonia 12;Alternating hemiplegia of childhood 2017-07-19 -12.0 0.6666666666666666 Benign/Likely benign 0 -329416 Simple 199625170 A . Benign/Likely benign 2 3 Dystonia 12;Alternating hemiplegia of childhood 2017-06-05 -12.0 0.6666666666666666 Benign/Likely benign 0 -329427 Simple 143547136 A . Benign/Likely benign 2 4 Dystonia 12;not provided;Alternating hemiplegia of childhood 2017-10-03 -15.0 0.5 Benign/Likely benign 0 -329430 Simple 200616931 A . Benign/Likely benign 2 3 Dystonia 12;Alternating hemiplegia of childhood 2017-06-08 -12.0 0.6666666666666666 Benign/Likely benign 0 -329432 Simple 376960579 G . Benign/Likely benign 2 3 Dystonia 12;Alternating hemiplegia of childhood 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -329434 Simple 369853936 C . Benign/Likely benign 2 4 Dystonia 12;not specified;Alternating hemiplegia of childhood 2017-07-11 -15.0 0.5 Benign/Likely benign 0 -329508 Simple 376556895 G . Pathogenic/Likely pathogenic 2 2 Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive;Xeroderma pigmentosum;not provided 2017-04-12 9.0 0.5 Pathogenic/Likely pathogenic 0 -329534 Simple 116640350 T . Benign/Likely benign 2 2 Xeroderma pigmentosum;not provided 2017-01-12 -9.0 1.0 Benign/Likely benign 0 -329547 Simple 148630935 A . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-04-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -329549 Simple 143937661 T . Benign/Likely benign 2 3 not provided;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-04-21 -12.0 0.6666666666666666 Benign/Likely benign 0 -329808 Simple 5451 T . Likely benign 2 4 Glycogen storage disease 0, muscle;Hyperferritinemia cataract syndrome;Neuroferritinopathy;not specified 2017-05-22 -12.0 0.75 Benign/Likely benign 1 -329811 Simple 5449 T . Benign/Likely benign 2 2 Glycogen storage disease 0, muscle;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -329814 Simple 5447 C . Benign/Likely benign 2 2 Glycogen storage disease 0, muscle;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -329818 Simple 5464 A . Benign 2 2 Glycogen storage disease 0, muscle;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -329822 Simple 5460 T . Benign/Likely benign 2 2 Glycogen storage disease 0, muscle;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -329824 Simple 5458 C . Benign/Likely benign 2 2 Glycogen storage disease 0, muscle;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -329844 Simple 113040724 G . Benign/Likely benign 2 2 not specified;Progressive familial heart block 2016-10-10 -9.0 1.0 Benign/Likely benign 0 -329846 Simple 34333830 A . Benign/Likely benign 2 2 not specified;Progressive familial heart block 2016-09-28 -9.0 1.0 Benign/Likely benign 0 -329852 Simple 61732831 T . Benign/Likely benign 2 2 not specified;Progressive familial heart block 2016-09-30 -9.0 1.0 Benign/Likely benign 0 -329860 Simple 1175796 G . Benign/Likely benign 2 2 not specified;Progressive familial heart block 2016-10-26 -9.0 1.0 Benign/Likely benign 0 -329864 Simple 3745301 T . Benign/Likely benign 2 2 not specified;Progressive familial heart block 2016-09-28 -9.0 1.0 Benign/Likely benign 0 -329870 Simple 1175810 A . Benign/Likely benign 2 3 Progressive familial heart block type 1B;not specified;Progressive familial heart block 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -329871 Simple 35145363 A . Benign/Likely benign 2 3 Progressive familial heart block type 1B;not specified;Progressive familial heart block 2017-07-26 -15.0 0.6666666666666666 Benign/Likely benign 0 -329872 Simple 79286201 T . Benign/Likely benign 2 3 Progressive familial heart block type 1B;not specified;Progressive familial heart block 2017-05-16 -15.0 0.6666666666666666 Benign/Likely benign 0 -329878 Simple 74863643 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-08-09 -9.0 0.5 Benign/Likely benign 0 -329886 Simple 79635160 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -329887 Simple 199761611 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth, Type 2 2017-07-05 -0.6 0.5 Uncertain significance 0 -330002 Simple 140769141 A . Benign/Likely benign 2 2 Familial cold autoinflammatory syndrome 2;Familial cold autoinflammatory syndrome 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -330011 Simple 61741347 G . Benign/Likely benign 2 2 Familial cold autoinflammatory syndrome 2;Familial cold autoinflammatory syndrome 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -330016 Simple 79884502 T . Benign/Likely benign 2 2 Familial cold autoinflammatory syndrome 2;Familial cold autoinflammatory syndrome 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -330032 Simple 111234757 C . Benign 2 2 Familial cold autoinflammatory syndrome 2;Familial cold autoinflammatory syndrome 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -330041 Simple 34854934 A . Benign/Likely benign 2 2 Familial cold autoinflammatory syndrome 2;Familial cold autoinflammatory syndrome 2017-06-13 -9.0 0.5 Benign/Likely benign 0 -330058 Simple 17854523 T . Benign/Likely benign 2 3 Spinocerebellar ataxia 14;not provided;Spinocerebellar Ataxia, Dominant 2017-05-10 -15.0 0.3333333333333333 Benign/Likely benign 0 -330127 Simple 758855323 T . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2017-01-16 -0.6 1.0 Uncertain significance 0 -330156 Simple 269950 C . Benign/Likely benign 2 2 Hydatidiform mole;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -330158 Simple 269951 G . Benign/Likely benign 2 2 Hydatidiform mole;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -330172 Simple 10418277 T . Benign/Likely benign 2 2 Hydatidiform mole;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -330176 Simple 775882 T . Benign/Likely benign 2 2 Hydatidiform mole;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -330183 Simple 775883 T . Benign/Likely benign 2 2 Hydatidiform mole;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -330207 Simple 200673226 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-12-25 -0.6 1.0 Uncertain significance 0 -330208 Simple 201919395 T . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-03-03 -0.6 1.0 Uncertain significance 0 -330214 Simple 549181425 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-08-26 -0.6 1.0 Uncertain significance 0 -330221 Simple 201101258 T . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-09-13 -0.6 1.0 Uncertain significance 0 -330225 Simple 58264281 T . Benign 2 2 not specified;Spermatogenic Failure 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -330260 Simple 61731566 T . Benign/Likely benign 2 4 Leukodystrophy, hypomyelinating, 6;Dystonia;not specified 2017-06-12 -18.0 0.75 Benign/Likely benign 0 -330262 Simple 144969662 T . Benign/Likely benign 2 4 Leukodystrophy, hypomyelinating, 6;Dystonia;not specified 2017-06-27 -18.0 0.75 Benign/Likely benign 0 -330265 Simple 61741669 A . Benign 2 4 Leukodystrophy, hypomyelinating, 6;Dystonia;not specified 2017-04-28 -24.0 0.75 Benign 0 -330267 Simple 150812047 T . Benign/Likely benign 2 4 Leukodystrophy, hypomyelinating, 6;Dystonia;not specified 2017-05-08 -15.0 0.75 Benign/Likely benign 0 -330447 Simple 1799815 A . Benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2017-01-17 -24.0 1.0 Benign 0 -330462 Simple 142654992 A . Likely benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-06-14 -11.7 1.25 Benign/Likely benign 1 -330467 Simple 2245655 G . Benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-12-12 -24.0 1.0 Benign 0 -330468 Simple 2963 A . Benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-12-12 -24.0 1.0 Benign 0 -330469 Simple 2245649 C . Benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-12-12 -24.0 1.0 Benign 0 -330470 Simple 2229429 A . Benign 2 5 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-12-12 -30.0 1.0 Benign 0 -330472 Simple 72549236 A . Likely benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2017-01-17 -12.0 1.0 Benign/Likely benign 1 -330475 Simple 891087 A . Benign 2 4 Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified 2016-12-12 -24.0 1.0 Benign 0 -330512 Simple 35732838 A . Benign/Likely benign 2 3 Spastic paraplegia 39;Mucolipidosis type IV;Spastic Paraplegia, Recessive 2017-05-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -330520 Simple 574930 T . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Recessive 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -330522 Simple 620744 C . Benign 2 2 not specified;Spastic Paraplegia, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -330526 Simple 7250363 T . Benign/Likely benign 2 2 not specified;Spastic Paraplegia, Recessive 2016-09-26 -9.0 1.0 Benign/Likely benign 0 -330550 Simple 144586070 A . Benign/Likely benign 2 3 Hemophagocytic lymphohistiocytosis, familial, 5;Familial hemophagocytic lymphohistiocytosis;not provided 2017-06-21 -12.0 0.3333333333333333 Benign/Likely benign 0 -330622 Simple 150096859 A . Benign/Likely benign 2 2 Maturity-onset diabetes of the young;Monogenic diabetes 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -330631 Simple 148123124 T . Likely benign 2 2 not specified;Maturity-onset diabetes of the young 2016-06-14 -5.7 1.5 Likely benign 0 -330709 Simple 148212997 T . Uncertain significance 2 2 not specified;Hypohidrotic Ectodermal Dysplasia, Dominant 2017-10-25 -0.6 0.5 Uncertain significance 0 -330729 Simple 573192954 G . Uncertain significance 2 4 Joubert syndrome;Renal dysplasia and retinal aplasia;Nephronophthisis;not specified 2016-06-14 -1.17 1.25 Uncertain significance 0 -330821 Simple 2234679 C . Benign 2 2 Osteomyelitis, sterile multifocal, with periostitis and pustulosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -330822 Simple 878972 C . Benign 2 2 Osteomyelitis, sterile multifocal, with periostitis and pustulosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -330825 Simple 419598 C . Benign 2 2 Osteomyelitis, sterile multifocal, with periostitis and pustulosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -330827 Simple 315952 C . Benign 2 2 Osteomyelitis, sterile multifocal, with periostitis and pustulosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -330908 Simple 370440936 G . Uncertain significance 2 2 not specified;Acute Recurrent Myoglobinuria 2017-09-13 -0.6 0.5 Uncertain significance 0 -331052 Simple 557276019 T . Uncertain significance 2 2 Autosomal recessive centronuclear myopathy;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -331102 Simple 144300387 C . Benign/Likely benign 2 2 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 2016-10-21 -9.0 1.0 Benign/Likely benign 0 -331106 Simple 2069927 A . Benign/Likely benign 2 2 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 2017-07-21 -9.0 0.5 Benign/Likely benign 0 -331111 Simple 61731660 A . Benign/Likely benign 2 2 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 2017-06-07 -9.0 0.5 Benign/Likely benign 0 -331112 Simple 148855579 C . Benign/Likely benign 2 2 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 2016-12-29 -9.0 1.0 Benign/Likely benign 0 -331302 Simple 147603619 A . Likely benign 2 2 Mowat-Wilson syndrome;not specified 2017-05-01 -6.0 0.5 Likely benign 0 -331379 Simple 34886916 A . Benign/Likely benign 2 3 Methylmalonic acidemia;Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -331380 Simple 61746421 T . Benign/Likely benign 2 3 Methylmalonic acidemia;Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -331386 Simple 79997772 G . Benign/Likely benign 2 3 Methylmalonic acidemia;Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -331403 Simple 373551215 A . Uncertain significance 2 3 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-07-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -331411 Simple 766321668 G . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2017-07-03 -0.6 0.5 Uncertain significance 0 -331415 Simple 776739582 C . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2017-11-06 -0.6 0.5 Uncertain significance 0 -331426 Simple 372284984 T . Uncertain significance 2 3 Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive 2017-10-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -331457 Simple 34504204 C . Uncertain significance 2 2 Nemaline myopathy 2;Nemaline Myopathy, Recessive 2017-01-10 -0.6 1.0 Uncertain significance 0 -331481 Simple 376182104 G . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2017-08-02 -0.6 0.5 Uncertain significance 0 -331501 Simple 200649387 C . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2017-03-27 -0.6 0.5 Uncertain significance 0 -331505 Simple 78420579 T . Uncertain significance 2 2 Nemaline myopathy 2;Nemaline Myopathy, Recessive 2017-05-19 -0.6 0.5 Uncertain significance 0 -331520 Simple 181244403 A . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2017-05-08 -0.6 0.5 Uncertain significance 0 -331526 Simple 151206071 A . Benign/Likely benign 2 2 not specified;Nemaline Myopathy, Recessive 2016-11-15 -9.0 1.0 Benign/Likely benign 0 -331532 Simple 77826191 A . Uncertain significance 2 2 not specified;Nemaline Myopathy, Recessive 2017-04-19 -0.6 0.5 Uncertain significance 0 -331728 Simple 756493732 T . Uncertain significance 2 3 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-07-04 -0.8999999999999999 1.0 Uncertain significance 0 -331736 Simple 373347369 T . Benign/Likely benign 2 4 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-05-19 -17.4 1.0 Benign/Likely benign 0 -331738 Simple 199925238 A . Likely benign 2 4 Benign familial neonatal-infantile seizures;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -11.7 1.25 Benign/Likely benign 1 -331739 Simple 148424455 T . Benign/Likely benign 2 4 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-05-16 -14.4 1.0 Benign/Likely benign 0 -331823 Simple 146201603 A . Uncertain significance 2 3 Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis 2016-09-21 -0.8999999999999999 1.0 Uncertain significance 0 -331824 Simple 151227843 A . Uncertain significance 2 3 Jeune thoracic dystrophy;Joubert syndrome;not specified 2017-07-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -331829 Simple 183367929 T . Uncertain significance 2 3 Jeune thoracic dystrophy;Joubert syndrome;not specified 2016-12-16 -0.8999999999999999 1.0 Uncertain significance 0 -331883 Simple 374087499 C . Benign/Likely benign 2 4 Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy 2017-01-20 -15.0 1.0 Benign/Likely benign 0 -331965 Simple 202235611 G . Uncertain significance 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-12-09 -2.4 1.0 Uncertain significance 0 -331967 Simple 202047865 G . Likely benign 2 8 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-06-22 -24.0 0.875 Benign 2 -331969 Simple 370455223 T . Uncertain significance 2 8 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-07-25 -2.4 0.875 Uncertain significance 0 -331980 Simple 145316463 A . Benign/Likely benign 2 10 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-07-31 -36.0 0.9 Benign 1 -331982 Simple 201890240 C . Benign/Likely benign 2 9 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-09-20 -33.0 1.0 Benign 1 -331983 Simple 187526567 G . Likely benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-09-14 -24.0 1.0 Benign 2 -331985 Simple 200671761 A . Benign/Likely benign 2 8 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-03-09 -27.0 0.875 Benign 1 -331986 Simple 201318927 T . Likely benign 2 8 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-04-23 -24.0 0.875 Benign 2 -331997 Simple 772337722 G . Likely benign 2 8 Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2016-12-02 -24.0 1.0 Benign 2 -332001 Simple 200826539 G . Benign/Likely benign 2 9 Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia 2017-06-08 -30.0 0.8888888888888888 Benign 1 -332117 Simple 142093111 A . Uncertain significance 2 2 Donnai Barrow syndrome;not specified 2017-05-03 -0.6 0.5 Uncertain significance 0 -332163 Simple 141260047 A . Uncertain significance 2 2 Donnai Barrow syndrome;not specified 2017-02-28 -0.6 1.0 Uncertain significance 0 -332231 Simple 45566933 C . Uncertain significance 2 2 Cerebral palsy spastic quadriplegic;not provided 2017-02-03 -0.6 1.0 Uncertain significance 0 -332237 Simple 143058194 T . Uncertain significance 2 2 Cerebral palsy spastic quadriplegic;Hereditary spastic paraplegia 2017-03-07 -0.6 0.5 Uncertain significance 0 -332448 Simple 140268343 A . Uncertain significance 2 3 Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -332450 Simple 147488907 T . Uncertain significance 2 3 Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;Congenital Myasthenic Syndrome, Dominant/Recessive 2017-05-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -332488 Simple 33913965 C . Benign/Likely benign 2 2 Vertical talus, congenital;not specified 2016-12-01 -9.0 1.0 Benign/Likely benign 0 -332635 Simple 9406386 G . Benign/Likely benign 2 3 Dystonia;not specified;Nonsyndromic Hearing Loss, Recessive 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -332677 Simple 188728343 T . Benign/Likely benign 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -23.4 1.1428571428571428 Benign/Likely benign 0 -332680 Simple 886055217 T . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-03-16 -2.1 0.8571428571428571 Uncertain significance 0 -332687 Simple 758458467 A . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-01 -2.6999999999999997 0.6666666666666666 Uncertain significance 0 -332696 Simple 771366227 - . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-02-09 -2.1 1.0 Uncertain significance 0 -332698 Simple 375002174 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-09-21 -2.1 1.0 Uncertain significance 0 -332699 Simple 886055224 T . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-10-10 -2.1 1.0 Uncertain significance 0 -332708 Simple 766169253 A . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 -2.1 1.0 Uncertain significance 0 -332733 Simple 777636306 C . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-12-30 -2.1 1.0 Uncertain significance 0 -332742 Simple 774191975 T . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-08-08 -2.1 1.0 Uncertain significance 0 -332746 Simple 377264123 T . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-14 -2.1 0.8571428571428571 Uncertain significance 0 -332755 Simple 371788070 G . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-28 -2.1 0.8571428571428571 Uncertain significance 0 -332771 Simple 534003014 G . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-07 -2.4 0.75 Uncertain significance 0 -332783 Simple 72646898 C . Uncertain significance 2 8 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-03-31 -2.4 0.875 Uncertain significance 0 -332812 Simple 776468606 A . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-02-08 -2.1 1.0 Uncertain significance 0 -332818 Simple 377529060 A . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-27 -2.1 0.8571428571428571 Uncertain significance 0 -332827 Simple 754793079 G . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-09 -2.1 0.8571428571428571 Uncertain significance 0 -332850 Simple 886055271 G . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-10-08 -2.1 1.0 Uncertain significance 0 -332861 Simple 367774903 A . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-02-19 -2.1 1.0 Uncertain significance 0 -332870 Simple 753053245 T . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-03-26 -2.1 0.8571428571428571 Uncertain significance 0 -332894 Simple 772882862 A . Uncertain significance 2 9 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-01 -2.6999999999999997 0.6666666666666666 Uncertain significance 0 -332901 Simple 371163094 T . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-11-30 -2.1 1.0 Uncertain significance 0 -332902 Simple 370604793 T . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-04-25 -2.1 0.8571428571428571 Uncertain significance 0 -332907 Simple 71393436 ACAAAACAAAACAAAACAAAACAAAACAAA . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-31 -2.1 0.8571428571428571 Uncertain significance 0 -332908 Simple 776799144 A . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-07 -2.1 0.8571428571428571 Uncertain significance 0 -332923 Simple 370889765 A . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-07-07 -2.1 0.8571428571428571 Uncertain significance 0 -332925 Simple 535319438 A . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-12-03 -2.1 1.0 Uncertain significance 0 -332928 Simple 748155563 G . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-09 -2.1 0.8571428571428571 Uncertain significance 0 -332935 Simple 201744218 C . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-11-24 -2.1 1.0 Uncertain significance 0 -332941 Simple 779339626 G . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-02 -2.1 0.8571428571428571 Uncertain significance 0 -332948 Simple 777101912 T . Uncertain significance 2 7 Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2016-12-08 -2.1 1.0 Uncertain significance 0 -332971 Simple 768427369 T . Uncertain significance 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-06-20 -2.1 0.8571428571428571 Uncertain significance 0 -333052 Simple 535434618 C . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 4 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -333053 Simple 572863064 G . Likely benign 2 2 Ehlers-Danlos syndrome, type 4;not specified 2016-07-12 -6.0 1.0 Likely benign 0 -333054 Simple 201740954 C . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 4 2017-04-24 -9.0 0.5 Benign/Likely benign 0 -333057 Simple 373838193 T . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 4;not specified 2017-11-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -333061 Simple 375673185 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 4;not specified 2016-11-14 -6.0 1.0 Likely benign 0 -333063 Simple 144036995 T . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 4;not specified 2017-08-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -333131 Simple 753383064 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A 2017-03-30 -0.6 0.5 Uncertain significance 0 -333134 Simple 148110552 G . Uncertain significance 2 3 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified 2016-11-08 -0.8999999999999999 1.0 Uncertain significance 0 -333162 Simple 142456282 T . Uncertain significance 2 2 Hemochromatosis type 4;Hereditary hemochromatosis 2017-07-03 -0.6 0.5 Uncertain significance 0 -333167 Simple 11568350 A . Benign/Likely benign 2 2 Hemochromatosis type 4;Hereditary hemochromatosis 2016-09-09 -9.0 1.0 Benign/Likely benign 0 -333170 Simple 11568344 A . Benign 2 2 Hemochromatosis type 4;Hereditary hemochromatosis 2017-05-21 -12.0 0.5 Benign/Likely benign 1 -333171 Simple 11568345 A . Benign 2 2 Hemochromatosis type 4;Hereditary hemochromatosis 2017-03-30 -12.0 0.5 Benign/Likely benign 1 -333281 Simple 55891000 G . Benign/Likely benign 2 2 Mycobacterial and viral infections, susceptibility to, autosomal recessive;Immunodeficiency 31C;Immunodeficiency 31a;Familial Atypical Mycobacteriosis, Autosomal Dominant 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -333284 Simple 41509946 T . Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Dominant 2016-08-15 -6.0 1.0 Likely benign 0 -333285 Simple 41473544 T . Likely benign 2 2 Mycobacterial and viral infections, susceptibility to, autosomal recessive;Immunodeficiency 31C;Immunodeficiency 31a;Familial Atypical Mycobacteriosis, Autosomal Dominant 2017-06-21 -6.0 0.5 Likely benign 0 -333289 Simple 45459703 T . Benign/Likely benign 2 2 Mycobacterial and viral infections, susceptibility to, autosomal recessive;Immunodeficiency 31C;Immunodeficiency 31a;Familial Atypical Mycobacteriosis, Autosomal Dominant 2017-07-07 -9.0 0.5 Benign/Likely benign 0 -333293 Simple 2066802 G . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -333306 Simple 2303884 G . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2016-08-09 -9.0 1.0 Benign/Likely benign 0 -333313 Simple 79630442 C . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-08-10 -14.4 1.0 Benign/Likely benign 0 -333378 Simple 2293669 T . Benign/Likely benign 2 3 Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -333388 Simple 139252416 C . Uncertain significance 2 3 Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome 2017-03-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -333404 Simple 34169020 A . Benign/Likely benign 2 3 Cranioectodermal dysplasia 2;Short rib polydactyly syndrome 5;Cranioectodermal dysplasia;Short Rib Polydactyly Syndrome 2017-08-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -333418 Simple 3900115 G . Benign 2 2 Autoimmune lymphoproliferative syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -333420 Simple 7608787 T . Benign 2 2 Autoimmune lymphoproliferative syndrome;Autoimmune lymphoproliferative syndrome, type 2A;Autoimmune lymphoproliferative syndrome type 2 2017-07-07 -12.0 0.5 Benign/Likely benign 1 -333434 Simple 6753900 T . Benign 2 2 Autoimmune lymphoproliferative syndrome;Autoimmune lymphoproliferative syndrome, type 2A;Autoimmune lymphoproliferative syndrome type 2 2017-07-07 -12.0 0.5 Benign/Likely benign 1 -333442 Simple 13006529 A . Benign 2 2 Autoimmune lymphoproliferative syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -333501 Simple 370400442 T . Uncertain significance 2 2 Caspase-8 deficiency 2017-07-10 -0.6 0.5 Uncertain significance 0 -333592 Simple 200706696 T . Uncertain significance 2 3 Hereditary spastic paraplegia;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive 2017-03-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -333638 Simple 112862820 G . Benign/Likely benign 2 2 Primary pulmonary hypertension 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -333640 Simple 148682262 A . Benign/Likely benign 2 2 Primary pulmonary hypertension 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -333733 Simple 55972840 G . Benign/Likely benign 2 2 Common variable immunodeficiency 1;Common Variable Immune Deficiency, Recessive 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -333735 Simple 4264550 T . Benign/Likely benign 2 2 not specified;Common Variable Immune Deficiency, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -333736 Simple 57149344 A . Benign/Likely benign 2 2 Common variable immunodeficiency 1;Common Variable Immune Deficiency, Recessive 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -333739 Simple 10183087 C . Benign/Likely benign 2 2 not specified;Common Variable Immune Deficiency, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -333784 Simple 765436915 C . Uncertain significance 2 3 Mitochondrial complex I deficiency;Leigh syndrome;not specified 2017-07-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -333875 Simple 61731517 C . Benign/Likely benign 2 2 Cataract 4;Cataract 2017-02-28 -9.0 1.0 Benign/Likely benign 0 -334009 Simple 150314086 T . Uncertain significance 2 2 Congenital hyperammonemia, type I;not specified 2017-08-14 -0.6 0.5 Uncertain significance 0 -334013 Simple 114819130 A . Uncertain significance 2 3 Congenital hyperammonemia, type I;not specified;not provided 2017-09-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -334020 Simple 34022862 G . Benign/Likely benign 2 2 Congenital hyperammonemia, type I;not specified 2016-07-12 -9.0 1.0 Benign/Likely benign 0 -334026 Simple 41272667 T . Benign/Likely benign 2 2 Congenital hyperammonemia, type I;not specified 2016-07-12 -9.0 1.0 Benign/Likely benign 0 -334027 Simple 35678745 A . Benign/Likely benign 2 2 Congenital hyperammonemia, type I;not specified 2016-07-12 -9.0 1.0 Benign/Likely benign 0 -334109 Simple 142422341 T . Uncertain significance 2 2 Familial hypobetalipoproteinemia;Familial hypercholesterolemia 2016-06-14 -0.6 1.0 Uncertain significance 0 -334113 Simple 13306196 T . Benign/Likely benign 2 4 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-11-06 -18.0 0.5 Benign/Likely benign 0 -334116 Simple 12713600 A . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-08-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -334117 Simple 72653098 G . Uncertain significance 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -334144 Simple 12720847 A . Benign/Likely benign 2 4 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-07-27 -18.0 0.75 Benign/Likely benign 0 -334146 Simple 13306187 T . Benign/Likely benign 2 4 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-07-07 -18.0 0.5 Benign/Likely benign 0 -334164 Simple 200868559 C . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-04-27 -12.0 0.6666666666666666 Benign/Likely benign 0 -334167 Simple 12714189 T . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-07-21 -12.0 0.6666666666666666 Benign/Likely benign 0 -334171 Simple 139864087 C . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-08-08 -12.0 0.6666666666666666 Benign/Likely benign 0 -334179 Simple 72653059 C . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-08-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -334181 Simple 13306198 A . Benign/Likely benign 2 4 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-06-26 -18.0 0.5 Benign/Likely benign 0 -334182 Simple 1800478 A . Benign/Likely benign 2 4 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2017-08-17 -18.0 0.5 Benign/Likely benign 0 -334189 Simple 12720850 G . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1 2016-07-10 -12.0 1.0 Benign/Likely benign 0 -334253 Simple 142196906 G . Uncertain significance 2 2 not specified;Congenital ichthyosiform erythroderma 2017-01-11 -0.6 1.0 Uncertain significance 0 -334309 Simple 150402000 A . Likely benign 2 2 Paroxysmal choreoathetosis 2017-01-19 -6.0 1.0 Likely benign 0 -334310 Simple 147259983 A . Likely benign 2 2 Paroxysmal choreoathetosis 2017-08-14 -6.0 0.5 Likely benign 0 -334311 Simple 374645683 T . Uncertain significance 2 2 Paroxysmal choreoathetosis 2017-03-16 -0.6 0.5 Uncertain significance 0 -334315 Simple 73990423 A . Benign 2 3 Paroxysmal choreoathetosis 2017-08-03 -18.0 0.3333333333333333 Benign/Likely benign 1 -334317 Simple 370929830 A . Uncertain significance 2 2 Paroxysmal choreoathetosis 2017-02-05 -0.6 1.0 Uncertain significance 0 -334323 Simple 34745867 A . Benign/Likely benign 2 3 Paroxysmal choreoathetosis 2017-07-24 -15.0 0.3333333333333333 Benign/Likely benign 0 -334327 Simple 116144189 A . Benign 2 2 Paroxysmal choreoathetosis 2017-08-10 -12.0 0.5 Benign/Likely benign 1 -334329 Simple 886055621 - . Likely benign 2 2 Paroxysmal choreoathetosis 2017-03-08 -6.0 0.5 Likely benign 0 -334392 Simple 115839019 T . Benign/Likely benign 2 4 Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4;Selective tooth agenesis 2017-02-28 -15.0 1.0 Benign/Likely benign 0 -334393 Simple 199980023 T . Uncertain significance 2 4 Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4;Selective tooth agenesis 2016-10-10 -1.2 1.0 Uncertain significance 0 -334405 Simple 111903177 A . Benign 2 4 Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4;Selective tooth agenesis 2017-02-28 -24.0 1.0 Benign 0 -334703 Simple 77104306 T . Benign/Likely benign 2 2 Alport syndrome;not specified 2017-05-05 -9.0 0.5 Benign/Likely benign 0 -334732 Simple 34509421 G . Benign/Likely benign 2 2 Alport syndrome, autosomal recessive;Alport syndrome 2017-05-31 -9.0 0.5 Benign/Likely benign 0 -334756 Simple 75683214 A . Benign/Likely benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -334762 Simple 200510532 T . Uncertain significance 2 2 Alport syndrome;not specified 2017-11-01 -0.6 0.5 Uncertain significance 0 -334780 Simple 73996414 A . Benign/Likely benign 2 2 Alport syndrome, autosomal dominant;Alport syndrome, autosomal recessive;Alport syndrome 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -334878 Simple 117864472 C . Benign/Likely benign 2 3 Basal ganglia disease, biotin-responsive;not specified;Thiamine Metabolism Dysfunction Syndrome 2017-03-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -334896 Simple 34034766 C . Benign/Likely benign 2 2 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -334897 Simple 3948463 T . Benign/Likely benign 2 2 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -334898 Simple 13018234 A . Benign/Likely benign 2 2 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -334899 Simple 201034113 A . Uncertain significance 2 2 Hepatic venoocclusive disease with immunodeficiency 2017-07-25 -0.6 0.5 Uncertain significance 0 -334900 Simple 35495464 G . Benign/Likely benign 2 2 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -334902 Simple 1135791 G . Benign 2 2 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -334904 Simple 149485401 T . Benign/Likely benign 2 2 Hepatic venoocclusive disease with immunodeficiency 2017-07-07 -9.0 0.5 Benign/Likely benign 0 -334907 Simple 7606916 G . Benign 2 2 Hepatic venoocclusive disease with immunodeficiency 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -334909 Simple 1365776 T . Benign 2 2 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -334910 Simple 9061 T . Benign 2 3 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -334911 Simple 28930679 A . Benign 2 3 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -334912 Simple 41309096 A . Benign 2 2 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -334917 Simple 11556887 A . Benign 2 2 Hepatic venoocclusive disease with immunodeficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -334918 Simple 41309088 T . Benign/Likely benign 2 2 Hepatic venoocclusive disease with immunodeficiency 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -334928 Simple 723044 T . Benign/Likely benign 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism 2017-08-15 -9.0 0.5 Benign/Likely benign 0 -334932 Simple 201453807 T . Uncertain significance 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism 2017-04-07 -0.6 0.5 Uncertain significance 0 -334936 Simple 17272089 T . Benign/Likely benign 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism 2017-08-09 -9.0 0.5 Benign/Likely benign 0 -334943 Simple 886055771 T . Uncertain significance 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism 2017-04-25 -0.6 0.5 Uncertain significance 0 -334945 Simple 75782436 T . Benign/Likely benign 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism 2017-08-09 -9.0 0.5 Benign/Likely benign 0 -334946 Simple 780625125 T . Uncertain significance 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism 2017-04-21 -0.6 0.5 Uncertain significance 0 -335096 Simple 199800564 A . Likely benign 2 2 Collagen VI-related myopathy;not specified 2016-06-29 -6.0 1.0 Likely benign 0 -335097 Simple 114596320 T . Likely benign 2 2 Collagen VI-related myopathy;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -335102 Simple 115757876 T . Likely benign 2 2 Collagen VI-related myopathy;not specified 2016-08-17 -6.0 1.0 Likely benign 0 -335126 Simple 199646208 T . Likely benign 2 2 Bethlem myopathy 1;Collagen VI-related myopathy 2016-10-18 -6.0 1.0 Likely benign 0 -335258 Simple 200902828 A . Uncertain significance 2 4 Hereditary sensory and autonomic neuropathy type II;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-06-06 -1.2 0.75 Uncertain significance 0 -335260 Simple 368005947 A . Uncertain significance 2 4 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-06-29 -1.2 0.75 Uncertain significance 0 -335267 Simple 184931664 G . Benign/Likely benign 2 6 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-05-30 -21.0 0.8333333333333334 Benign/Likely benign 0 -335283 Simple 7594776 A . Benign/Likely benign 2 6 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2017-07-17 -26.4 1.0 Benign 1 -335284 Simple 73102676 A . Benign/Likely benign 2 4 Hereditary sensory and autonomic neuropathy type II;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -335311 Simple 143231454 A . Uncertain significance 2 3 not specified;D-2-hydroxyglutaric aciduria 2016-08-18 -0.8999999999999999 1.0 Uncertain significance 0 -335317 Simple 149628174 T . Uncertain significance 2 2 not specified;D-2-hydroxyglutaric aciduria 2017-06-06 -0.6 0.5 Uncertain significance 0 -335319 Simple 145839736 T . Uncertain significance 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-11-02 -0.6 1.0 Uncertain significance 0 -335320 Simple 375162898 A . Uncertain significance 2 2 not provided;D-2-hydroxyglutaric aciduria 2017-05-31 -0.6 0.5 Uncertain significance 0 -335325 Simple 762019434 T . Uncertain significance 2 2 not specified;D-2-hydroxyglutaric aciduria 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -335637 Simple 139768554 GCTGCT . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -335655 Simple 10166913 A . Benign/Likely benign 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-10-17 -9.0 1.0 Benign/Likely benign 0 -335664 Simple 200696965 A . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2017-04-24 -0.6 0.5 Uncertain significance 0 -335687 Simple 1881422 A . Benign/Likely benign 2 3 Neuroblastoma 3;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-03 -15.0 0.6666666666666666 Benign/Likely benign 0 -335688 Simple 141010693 G . Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-06-12 -6.0 0.5 Likely benign 0 -335693 Simple 56146053 A . Benign/Likely benign 2 4 Neuroblastoma 3;not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-08-15 -21.0 0.75 Benign/Likely benign 0 -335694 Simple 3795850 T . Benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2016-12-12 -24.0 1.0 Benign 0 -335695 Simple 146074150 T . Benign/Likely benign 2 4 Neuroblastoma 3;not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-07-28 -18.0 0.75 Benign/Likely benign 0 -335698 Simple 138406372 T . Benign/Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -335701 Simple 780536554 A . Uncertain significance 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2016-10-09 -0.6 1.0 Uncertain significance 0 -335702 Simple 150292405 A . Benign/Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -335704 Simple 57881134 A . Benign/Likely benign 2 4 Neuroblastoma 3;not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-07-30 -18.0 0.75 Benign/Likely benign 0 -335705 Simple 560163657 A . Benign/Likely benign 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-07-18 -9.0 0.5 Benign/Likely benign 0 -335707 Simple 367674546 C . Uncertain significance 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-07-05 -0.6 0.5 Uncertain significance 0 -335709 Simple 367712624 A . Uncertain significance 2 2 Neuroblastoma 3;Neuroblastoma Susceptibility 2017-01-10 -0.6 1.0 Uncertain significance 0 -335719 Simple 56270786 T . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility 2017-11-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -335829 Simple 141944844 A . Benign/Likely benign 2 3 Spastic paraplegia 4, autosomal dominant;not specified;Spastic Paraplegia, Dominant 2017-04-21 -15.0 0.6666666666666666 Benign/Likely benign 0 -336015 Simple 371408734 C . Uncertain significance 2 3 Noonan syndrome;Rasopathy;Gingival fibromatosis 2017-04-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -336055 Simple 149599171 T . Uncertain significance 2 2 Sitosterolemia;not specified 2017-08-11 -0.6 0.5 Uncertain significance 0 -336199 Simple 796262035 - . Benign/Likely benign 2 2 Cystinuria;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -336424 Simple 781492698 C . Uncertain significance 2 2 Lynch syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -336427 Simple 1057519254 - . Uncertain significance 2 3 Lynch syndrome I;Lynch syndrome 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -336440 Simple 886056142 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -336441 Simple 886056143 G . Uncertain significance 2 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2017-05-15 -0.6 0.5 Uncertain significance 0 -336442 Simple 587781657 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-23 -0.6 1.0 Uncertain significance 0 -336471 Simple 376653903 GCTGCAGCTGCA . Benign 2 5 Leydig cell agenesis;Gonadotropin-independent familial sexual precocity;not specified;Hypergonadotropic hypogonadism 2017-07-26 -30.0 0.8 Benign 0 -336553 Simple 780954241 T . Uncertain significance 2 2 not specified;Pitt-Hopkins-like syndrome 2017-10-26 -0.6 0.5 Uncertain significance 0 -336936 Simple 115175255 T . Benign/Likely benign 2 3 Methylmalonyl-CoA epimerase deficiency;Methylmalonic acidemia;not specified 2017-08-04 -14.4 1.0 Benign/Likely benign 0 -336945 Simple 150029218 G . Uncertain significance 2 4 Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-30 -1.2 0.5 Uncertain significance 0 -336956 Simple 546679270 T . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-05-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -336965 Simple 148925399 A . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-08-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -336971 Simple 151268930 G . Uncertain significance 2 3 not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive 2017-02-07 -0.8999999999999999 1.0 Uncertain significance 0 -337070 Simple 115689748 A . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;Distal hereditary motor neuronopathy 2017-06-19 -12.0 0.6666666666666666 Benign/Likely benign 0 -337072 Simple 146094433 A . Benign/Likely benign 2 3 Perry syndrome;not specified;Distal hereditary motor neuronopathy 2016-08-12 -12.0 1.0 Benign/Likely benign 0 -337074 Simple 72466493 C . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;Distal hereditary motor neuronopathy 2017-05-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -337078 Simple 72659383 T . Likely benign 2 4 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified;Distal hereditary motor neuronopathy 2017-07-04 -12.0 0.75 Benign/Likely benign 1 -337096 Simple 55862001 C . Benign/Likely benign 2 5 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified;Distal hereditary motor neuronopathy 2017-08-07 -24.0 0.6 Benign 1 -337097 Simple 150204862 T . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;Distal hereditary motor neuronopathy 2016-11-18 -12.0 1.0 Benign/Likely benign 0 -337104 Simple 35533773 T . Benign/Likely benign 2 4 Congenital disorder of glycosylation type 2B;Congenital disorder of glycosylation;not specified;not provided 2017-08-07 -21.0 0.75 Benign/Likely benign 0 -337105 Simple 13405869 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation type 2B;Congenital disorder of glycosylation;not specified 2017-07-07 -14.4 1.0 Benign/Likely benign 0 -337337 Simple 377046345 A . Uncertain significance 2 2 Amish infantile epilepsy syndrome 2017-06-23 -0.6 0.5 Uncertain significance 0 -337388 Simple 544099237 CGGCTCGGCT . Benign 2 3 not specified;Spastic Paraplegia, Dominant 2017-07-19 -16.8 1.3333333333333333 Benign/Likely benign 1 -337409 Simple 771612567 T . Uncertain significance 2 2 Wolcott-Rallison dysplasia;not specified 2017-04-05 -0.6 0.5 Uncertain significance 0 -337412 Simple 55791823 A . Uncertain significance 2 2 Wolcott-Rallison dysplasia;not provided 2016-08-31 -0.6 1.0 Uncertain significance 0 -337426 Simple 144057685 C . Uncertain significance 2 2 Wolcott-Rallison dysplasia;not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -337502 Simple 140860906 A . Uncertain significance 2 2 Pheochromocytoma;Hereditary cancer-predisposing syndrome 2016-12-13 -0.6 1.0 Uncertain significance 0 -337594 Simple 200775112 G . Uncertain significance 2 2 Cone-rod dystrophy amelogenesis imperfecta;not specified 2017-09-26 -0.6 0.5 Uncertain significance 0 -337626 Simple 56127120 A . Benign/Likely benign 2 2 Severe combined immunodeficiency, atypical;Severe Combined Immune Deficiency 2017-03-29 -9.0 0.5 Benign/Likely benign 0 -337631 Simple 56340622 T . Benign/Likely benign 2 2 Severe combined immunodeficiency, atypical;Severe Combined Immune Deficiency 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -337634 Simple 142702703 C . Uncertain significance 2 2 Severe combined immunodeficiency, atypical;Severe Combined Immune Deficiency 2017-07-31 -0.6 0.5 Uncertain significance 0 -337638 Simple 56249179 T . Uncertain significance 2 2 Severe combined immunodeficiency, atypical;Severe Combined Immune Deficiency 2017-07-25 -0.6 0.5 Uncertain significance 0 -337750 Simple 200139177 C . Likely benign 2 3 Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease 2016-10-03 -9.0 1.0 Benign/Likely benign 1 -337752 Simple 147809756 T . Likely benign 2 3 Alagille syndrome 1;Arteriohepatic dysplasia;Isolated Nonsyndromic Congenital Heart Disease 2016-12-05 -9.0 1.0 Benign/Likely benign 1 -337759 Simple 567027490 G . Benign/Likely benign 2 3 Alagille syndrome 1;Arteriohepatic dysplasia;Isolated Nonsyndromic Congenital Heart Disease 2017-07-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -337835 Simple 45469293 A . Likely benign 2 2 not provided;Spinocerebellar Ataxia, Dominant 2016-12-30 -6.0 1.0 Likely benign 0 -337836 Simple 567558964 A . Uncertain significance 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-11-08 -0.6 1.0 Uncertain significance 0 -337909 Simple 202245813 A . Uncertain significance 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-02-08 -0.6 1.0 Uncertain significance 0 -337924 Simple 144338465 A . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-02-09 -9.0 1.0 Benign/Likely benign 0 -337937 Simple 886056553 ACAACA . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-12-13 -9.0 1.0 Benign/Likely benign 0 -338039 Simple 11907253 A . Benign/Likely benign 2 2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -338076 Simple 143337375 C . Likely benign 2 2 C-like syndrome;not provided 2017-07-17 -6.0 0.5 Likely benign 0 -338165 Simple 910085 G . Benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -338168 Simple 6119965 T . Benign/Likely benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -338170 Simple 6058891 C . Benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -338171 Simple 2424922 C . Benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -338173 Simple 2424926 G . Benign/Likely benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -338175 Simple 1997797 G . Benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -338178 Simple 17123655 T . Benign/Likely benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -338179 Simple 17123657 T . Benign/Likely benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -338180 Simple 2424928 C . Benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -338181 Simple 77355896 T . Benign/Likely benign 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -338219 Simple 116972153 A . Benign/Likely benign 2 3 Long QT syndrome;Romano-Ward syndrome 2017-05-17 -12.0 0.6666666666666666 Benign/Likely benign 0 -338251 Simple 141705330 A . Uncertain significance 2 2 not provided;Corneal Dystrophy, Recessive 2017-04-30 -0.6 0.5 Uncertain significance 0 -338270 Simple 17091705 A . Benign 2 2 Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency;Hypermethioninemia 2017-06-19 -12.0 0.5 Benign/Likely benign 1 -338341 Simple 200856791 A . Benign/Likely benign 2 3 Aicardi Goutieres syndrome 5;Aicardi Goutieres syndrome;Chilblain Lupus 2017-06-30 -12.0 0.6666666666666666 Benign/Likely benign 0 -338535 Simple 2075961 A . Benign 2 2 Combined deficiency of sialidase AND beta galactosidase;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -338538 Simple 4608591 T . Benign 2 2 Combined deficiency of sialidase AND beta galactosidase;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -338569 Simple 1883832 C . Benign 2 2 not specified;Immunodeficiency with Hyper-IgM 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -338576 Simple 11086998 G . Benign/Likely benign 2 3 not specified;Immunodeficiency with Hyper-IgM 2016-07-01 -15.0 1.0 Benign/Likely benign 0 -338594 Simple 768142427 A . Uncertain significance 2 2 Arterial tortuosity syndrome;not specified 2017-06-07 -0.6 0.5 Uncertain significance 0 -338646 Simple 763524380 A . Likely benign 2 2 Huntington disease-like 1;Genetic prion diseases 2017-05-30 -6.0 0.5 Likely benign 0 -338650 Simple 8124214 G . Benign 2 2 Huntington disease-like 1;Genetic prion diseases 2017-06-12 -12.0 0.5 Benign/Likely benign 1 -338681 Simple 140989375 A . Uncertain significance 2 2 not specified;Periventricular Heterotopia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -338682 Simple 372150935 A . Uncertain significance 2 2 not specified;Periventricular Heterotopia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -338695 Simple 149644732 C . Uncertain significance 2 2 not specified;Periventricular Heterotopia 2016-11-18 -0.6 1.0 Uncertain significance 0 -338705 Simple 145439001 T . Uncertain significance 2 2 not specified;Periventricular Heterotopia 2016-06-24 -0.6 1.0 Uncertain significance 0 -338752 Simple 11480415 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation type 1E;Congenital disorder of glycosylation;not provided 2017-08-09 -12.0 0.6666666666666666 Benign/Likely benign 0 -338770 Simple 149359253 C . Benign/Likely benign 2 2 Duane-radial ray syndrome;SALL4-Related Spectrum Disorders 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -338772 Simple 61737143 T . Benign 2 2 Duane-radial ray syndrome;SALL4-Related Spectrum Disorders 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -338851 Simple 76469093 T . Benign/Likely benign 2 2 Hypogonadism with anosmia;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -338852 Simple 76049287 A . Benign/Likely benign 2 2 Hypogonadism with anosmia;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -338854 Simple 117106081 T . Benign/Likely benign 2 2 Hypogonadism with anosmia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -338858 Simple 3746682 G . Benign 2 2 Hypogonadism with anosmia;Kallmann syndrome 3 2017-06-27 -12.0 0.5 Benign/Likely benign 1 -338859 Simple 3746684 A . Benign 2 2 Hypogonadism with anosmia;Kallmann syndrome 3 2017-06-27 -12.0 0.5 Benign/Likely benign 1 -338931 Simple 886056812 - . Likely benign 2 3 Amyotrophic lateral sclerosis type 8;Spinal muscular atrophy, late-onset, finkel type;Amyotrophic Lateral Sclerosis, Dominant;Spinal Muscular Atrophy, Dominant 2017-08-08 -9.0 0.6666666666666666 Benign/Likely benign 1 -339211 Simple 2232078 T . Uncertain significance 2 2 Kindler's syndrome;not specified 2017-07-14 -0.6 0.5 Uncertain significance 0 -339329 Simple 774002673 A . Uncertain significance 2 2 KCNQ2-Related Disorders;Early infantile epileptic encephalopathy 2017-03-22 -0.6 0.5 Uncertain significance 0 -339465 Simple 771734100 A . Uncertain significance 2 2 not provided;Retinitis Pigmentosa, Dominant 2016-08-31 -0.6 1.0 Uncertain significance 0 -339874 Simple 886057047 A . Uncertain significance 2 2 Familial platelet disorder with associated myeloid malignancy 2016-10-06 -0.6 1.0 Uncertain significance 0 -339875 Simple 751710767 C . Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy 2017-04-17 -6.0 0.5 Likely benign 0 -339876 Simple 186585782 A . Benign/Likely benign 2 2 Familial platelet disorder with associated myeloid malignancy 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -339878 Simple 754042987 C . Uncertain significance 2 2 Familial platelet disorder with associated myeloid malignancy 2017-03-03 -0.6 1.0 Uncertain significance 0 -340014 Simple 148192173 T . Uncertain significance 2 2 Popliteal pterygium syndrome;not specified 2017-01-05 -0.6 1.0 Uncertain significance 0 -340098 Simple 61735856 A . Benign/Likely benign 2 2 Cataract, autosomal dominant;Congenital cataract 2017-04-25 -9.0 0.5 Benign/Likely benign 0 -340142 Simple 17004713 A . Benign/Likely benign 2 2 Leukocyte adhesion deficiency type 1;Leukocyte adhesion deficiency 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -340155 Simple 235326 G . Benign 2 2 Leukocyte adhesion deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -340161 Simple 35370671 C . Benign/Likely benign 2 2 Leukocyte adhesion deficiency type 1;Leukocyte adhesion deficiency 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -340172 Simple 17004715 A . Benign/Likely benign 2 2 Leukocyte adhesion deficiency type 1;Leukocyte adhesion deficiency 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -340174 Simple 5030668 T . Benign 2 2 Leukocyte adhesion deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -340180 Simple 35903905 T . Benign/Likely benign 2 2 Leukocyte adhesion deficiency type 1;Leukocyte adhesion deficiency 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -340210 Simple 76547444 A . Likely benign 2 2 Knobloch syndrome 1;not provided 2016-12-30 -6.0 1.0 Likely benign 0 -340251 Simple 371993501 G . Uncertain significance 2 2 Knobloch syndrome 1;not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -340319 Simple 117340427 T . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;not specified 2017-02-15 -11.7 1.3333333333333333 Benign/Likely benign 0 -340375 Simple 181711180 T . Likely benign 2 3 Collagen VI-related myopathy;not specified;Myosclerosis 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -340378 Simple 117668143 A . Benign/Likely benign 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;Myosclerosis 2017-06-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -340384 Simple 138074469 A . Benign/Likely benign 2 4 Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis 2017-07-24 -18.0 0.75 Benign/Likely benign 0 -340387 Simple 142432514 A . Uncertain significance 2 3 Bethlem myopathy 1;Collagen VI-related myopathy;Myosclerosis 2017-07-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -340415 Simple 372045405 - . Benign/Likely benign 2 2 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2017-05-11 -9.0 0.5 Benign/Likely benign 0 -340425 Simple 376986639 T . Uncertain significance 2 2 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2017-02-06 -0.6 1.0 Uncertain significance 0 -340474 Simple 150892737 G . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -340476 Simple 202246527 C . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2017-02-20 -0.6 1.0 Uncertain significance 0 -340496 Simple 546562229 T . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -340509 Simple 776640595 T . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2017-04-19 -0.6 0.5 Uncertain significance 0 -340527 Simple 147670568 A . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2016-08-08 -0.6 1.0 Uncertain significance 0 -340539 Simple 369178196 T . Uncertain significance 2 2 not provided;Microcephalic Osteodysplastic Primordial Dwarfism 2017-02-28 -0.6 1.0 Uncertain significance 0 -340543 Simple 374857206 G . Uncertain significance 2 2 not specified;Microcephalic Osteodysplastic Primordial Dwarfism 2017-03-18 -0.6 0.5 Uncertain significance 0 -340561 Simple 917865 C . Benign 2 2 not specified;Familial Candidiasis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -340562 Simple 143652002 T . Likely benign 2 2 Immunodeficiency 51;Familial Candidiasis, Recessive 2017-07-25 -6.0 0.5 Likely benign 0 -340572 Simple 145378071 T . Uncertain significance 2 2 Immunodeficiency 51;Familial Candidiasis, Recessive 2017-06-21 -0.6 0.5 Uncertain significance 0 -340574 Simple 17205308 T . Benign/Likely benign 2 2 Immunodeficiency 51;Familial Candidiasis, Recessive 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -340579 Simple 144085995 C . Uncertain significance 2 2 Immunodeficiency 51;Familial Candidiasis, Recessive 2017-07-21 -0.6 0.5 Uncertain significance 0 -340585 Simple 2241046 T . Benign 2 2 not specified;Familial Candidiasis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -340591 Simple 879577 T . Benign 2 2 not specified;Familial Candidiasis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -340598 Simple 879575 T . Benign 2 2 not specified;Familial Candidiasis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -340608 Simple 4819555 T . Benign 2 2 not specified;Familial Candidiasis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -340611 Simple 41482444 A . Benign/Likely benign 2 2 Immunodeficiency 51;Familial Candidiasis, Recessive 2017-07-07 -9.0 0.5 Benign/Likely benign 0 -340613 Simple 3804060 T . Benign/Likely benign 2 2 Immunodeficiency 51;Familial Candidiasis, Recessive 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -340826 Simple 1061063 T . Benign 2 2 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -340827 Simple 186825747 G . Benign/Likely benign 2 3 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome;not specified 2017-02-02 -12.0 1.0 Benign/Likely benign 0 -340828 Simple 139884576 A . Likely benign 2 2 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome;not specified 2017-02-03 -6.0 1.0 Likely benign 0 -340830 Simple 1061064 G . Benign 2 2 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -340831 Simple 116644127 C . Likely benign 2 2 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome;not specified 2016-10-27 -6.0 1.0 Likely benign 0 -340912 Simple 762962010 A . Uncertain significance 2 4 Rhabdoid tumor predisposition syndrome 1;Coffin-Siris syndrome;Schwannomatosis;Rhabdoid tumor 2017-01-04 -1.2 1.0 Uncertain significance 0 -340913 Simple 184021903 T . Likely benign 2 4 not specified;Coffin-Siris syndrome;Schwannomatosis;Rhabdoid tumor 2016-08-18 -12.0 1.0 Benign/Likely benign 1 -341021 Simple 180729981 C . Uncertain significance 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -341069 Simple 886057336 C . Uncertain significance 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -341071 Simple 199957176 T . Likely benign 2 2 Neurofibromatosis, type 2 2017-01-31 -6.0 1.0 Likely benign 0 -341075 Simple 141099051 A . Benign/Likely benign 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-02-10 -9.0 1.0 Benign/Likely benign 0 -341200 Simple 35838082 T . Benign/Likely benign 2 2 Transcobalamin II deficiency 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -341210 Simple 76802001 A . Benign/Likely benign 2 2 Transcobalamin II deficiency 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -341214 Simple 1131603 C . Benign/Likely benign 2 2 Transcobalamin II deficiency 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -341215 Simple 4820889 A . Benign/Likely benign 2 3 Transcobalamin II deficiency;not specified 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -341236 Simple 17683011 G . Benign/Likely benign 2 2 Congenital glucose-galactose malabsorption;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -341249 Simple 5998233 G . Benign 2 2 Congenital glucose-galactose malabsorption;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -341252 Simple 17683430 A . Benign/Likely benign 2 2 Congenital glucose-galactose malabsorption;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -341253 Simple 17683448 T . Benign/Likely benign 2 2 Congenital glucose-galactose malabsorption;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -341262 Simple 17683704 G . Benign/Likely benign 2 2 Congenital glucose-galactose malabsorption;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -341263 Simple 33954001 G . Benign/Likely benign 2 2 Congenital glucose-galactose malabsorption;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -341264 Simple 61733910 A . Uncertain significance 2 2 Congenital glucose-galactose malabsorption;not provided 2016-07-12 -0.6 1.0 Uncertain significance 0 -341265 Simple 33943816 A . Benign/Likely benign 2 2 Congenital glucose-galactose malabsorption;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -341267 Simple 33954397 T . Benign/Likely benign 2 2 Congenital glucose-galactose malabsorption;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -341311 Simple 41311141 G . Benign/Likely benign 2 2 Parkinson disease 15;Parkinson Disease, Recessive 2017-07-13 -9.0 0.5 Benign/Likely benign 0 -341431 Simple 759427879 T . Uncertain significance 2 3 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2017-02-01 -0.8999999999999999 1.0 Uncertain significance 0 -341439 Simple 763697782 T . Uncertain significance 2 3 not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome 2016-06-14 -0.87 1.3333333333333333 Uncertain significance 0 -341548 Simple 34373276 T . Benign/Likely benign 2 2 Chronic granulomatous disease;Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -341648 Simple 142715413 T . Uncertain significance 2 2 Infantile neuroaxonal dystrophy;not provided 2016-12-31 -0.6 1.0 Uncertain significance 0 -341649 Simple 147948449 A . Uncertain significance 2 3 Infantile neuroaxonal dystrophy;not specified;not provided 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -341667 Simple 1894658 G . Benign/Likely benign 2 2 Nephronophthisis-like nephropathy 1;Nephronophthisis-Like Nephropathy 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -341669 Simple 117568682 C . Benign/Likely benign 2 2 Nephronophthisis-like nephropathy 1;Nephronophthisis-Like Nephropathy 2017-04-03 -9.0 0.5 Benign/Likely benign 0 -341788 Simple 765266179 G . Uncertain significance 2 2 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2 2017-08-01 -0.6 0.5 Uncertain significance 0 -341825 Simple 779543207 T . Uncertain significance 2 2 Rubinstein-Taybi syndrome;not specified 2017-05-24 -0.6 0.5 Uncertain significance 0 -341826 Simple 533875300 - . Likely benign 2 2 Rubinstein-Taybi syndrome;not specified;not provided 2017-08-24 -6.0 0.5 Likely benign 0 -341829 Simple 111489369 G . Benign/Likely benign 2 2 Rubinstein-Taybi syndrome;Carcinoma of colon;Rubinstein-Taybi syndrome 2 2017-02-06 -9.0 1.0 Benign/Likely benign 0 -341912 Simple 73167107 T . Uncertain significance 2 3 Kanzaki disease;Schindler disease, type 1;not specified 2017-07-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -342045 Simple 62233155 T . Benign/Likely benign 2 2 ALG12-congenital disorder of glycosylation;Congenital disorder of glycosylation 2017-06-23 -9.0 0.5 Benign/Likely benign 0 -342060 Simple 76707654 T . Benign/Likely benign 2 2 ALG12-congenital disorder of glycosylation;Congenital disorder of glycosylation 2016-09-10 -9.0 1.0 Benign/Likely benign 0 -342255 Simple 55973240 - . Benign/Likely benign 2 2 Fanconi anemia;not provided 2016-06-14 -8.7 1.5 Benign/Likely benign 0 -342260 Simple 72492997 T . Benign/Likely benign 2 2 Fanconi anemia 2017-08-15 -9.0 0.5 Benign/Likely benign 0 -342261 Simple 112887807 T . Benign 2 2 Fanconi anemia;not specified 2017-04-04 -12.0 0.5 Benign/Likely benign 1 -342262 Simple 72492998 C . Benign 2 2 Fanconi anemia;not specified 2017-04-04 -12.0 0.5 Benign/Likely benign 1 -342266 Simple 760246372 T . Uncertain significance 2 2 Fanconi anemia;not provided 2017-03-31 -0.6 0.5 Uncertain significance 0 -342267 Simple 12330369 A . Benign 2 2 Fanconi anemia;not specified 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -342268 Simple 62245508 G . Benign 2 2 Fanconi anemia;not specified 2016-08-08 -12.0 1.0 Benign/Likely benign 1 -342370 Simple 56041034 C . Uncertain significance 2 3 Fanconi anemia;not specified 2016-11-15 -0.8999999999999999 1.0 Uncertain significance 0 -342634 Simple 751793 T . Likely benign 2 2 Adams-Oliver syndrome;not provided 2017-01-12 -6.0 1.0 Likely benign 0 -342651 Simple 1463139 G . Benign 2 2 not specified;Adams-Oliver syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -342658 Simple 3732413 A . Benign 2 2 not specified;Adams-Oliver syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -342795 Simple 112042188 C . Benign/Likely benign 2 5 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-07-10 -18.0 0.8 Benign/Likely benign 0 -342796 Simple 200528343 A . Benign/Likely benign 2 5 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-07-05 -18.0 0.8 Benign/Likely benign 0 -342799 Simple 201955278 C . Likely benign 2 5 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-03-29 -15.0 0.8 Benign/Likely benign 1 -342801 Simple 76327999 A . Benign/Likely benign 2 5 Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;Hypocalcemia;Hypocalcemia, autosomal dominant 1 2017-07-26 -18.0 0.8 Benign/Likely benign 0 -342881 Simple 151294221 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2016-06-14 -0.6 1.0 Uncertain significance 0 -342890 Simple 150007422 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2017-01-30 -0.6 1.0 Uncertain significance 0 -342898 Simple 35436690 C . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2016-11-30 -0.6 1.0 Uncertain significance 0 -342902 Simple 754479443 C . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection 2017-06-27 -0.6 0.5 Uncertain significance 0 -342916 Simple 528654061 G . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2016-11-04 -9.0 1.0 Benign/Likely benign 0 -343103 Simple 11549992 A . Likely benign 3 3 Noonan syndrome with multiple lentigines;Noonan syndrome;Rasopathy 2017-04-18 -3.9 0.6666666666666666 Uncertain significance 2 -343139 Simple 191501191 T . Benign/Likely benign 2 3 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-08-08 -11.7 1.0 Benign/Likely benign 0 -343141 Simple 775573177 T . Benign/Likely benign 2 2 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2017-06-07 -9.0 0.5 Benign/Likely benign 0 -343148 Simple 563914744 C . Benign/Likely benign 2 2 Lymphedema, primary, with myelodysplasia;not specified 2017-05-02 -9.0 0.5 Benign/Likely benign 0 -343157 Simple 145441548 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2b;not specified;Charcot-Marie-Tooth, Type 2 2017-10-27 -12.0 0.3333333333333333 Benign/Likely benign 0 -343159 Simple 146566121 A . Likely benign 2 2 not specified;Charcot-Marie-Tooth, Type 2 2016-06-14 -5.7 1.5 Likely benign 0 -343243 Simple 150174636 T . Benign/Likely benign 2 2 Cranioectodermal dysplasia 1;Cranioectodermal dysplasia 2017-03-22 -9.0 0.5 Benign/Likely benign 0 -343332 Simple 16835513 A . Benign 2 2 Familial benign pemphigus;not specified 2016-07-28 -12.0 1.0 Benign/Likely benign 1 -343382 Simple 144989330 C . Uncertain significance 2 5 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified 2017-05-18 -1.5 0.8 Uncertain significance 0 -343389 Simple 138982161 C . Uncertain significance 2 4 Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis 2016-10-05 -1.2 1.0 Uncertain significance 0 -343400 Simple 112142146 T . Benign/Likely benign 2 2 Cataract 12, multiple types;Cataract 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -343404 Simple 34163197 T . Benign/Likely benign 2 2 Cataract 12, multiple types;Cataract 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -343405 Simple 185816798 G . Benign/Likely benign 2 2 Cataract 12, multiple types;Cataract 2017-02-28 -9.0 1.0 Benign/Likely benign 0 -343441 Simple 8177238 G . Likely benign 2 2 Atransferrinemia;not provided 2016-10-11 -6.0 1.0 Likely benign 0 -343453 Simple 145734157 T . Likely benign 2 2 Propionic acidemia;not specified 2017-06-02 -6.0 0.5 Likely benign 0 -343509 Simple 746672224 - . Uncertain significance 2 3 not specified;Cardiomyopathy, ARVC 2017-03-01 -0.8999999999999999 1.0 Uncertain significance 0 -343581 Simple 200490116 C . Uncertain significance 2 2 Seckel syndrome;not specified 2016-07-07 -0.6 1.0 Uncertain significance 0 -343608 Simple 537031994 AA . Uncertain significance 2 2 Seckel syndrome;not specified 2016-07-08 -0.6 1.0 Uncertain significance 0 -343612 Simple 141783863 G . Uncertain significance 2 2 Seckel syndrome;not specified 2016-06-24 -0.6 1.0 Uncertain significance 0 -343715 Simple 397710976 TT . Benign 2 3 Deficiency of ferroxidase;Hermansky-Pudlak syndrome;not specified 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -343750 Simple 187293972 T . Uncertain significance 2 2 Deficiency of ferroxidase 2017-06-24 -0.6 0.5 Uncertain significance 0 -343753 Simple 529607771 T . Uncertain significance 2 2 Deficiency of ferroxidase;not provided 2017-02-22 -0.6 1.0 Uncertain significance 0 -343883 Simple 149571533 T . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2017-07-20 -15.0 0.6666666666666666 Benign/Likely benign 0 -343891 Simple 73033051 T . Benign 2 2 not specified;Congenital Myasthenic Syndrome, Recessive 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -343909 Simple 886058115 C . Uncertain significance 2 2 Biotinidase deficiency;not specified 2017-01-30 -0.6 1.0 Uncertain significance 0 -343967 Simple 202145480 C . Uncertain significance 2 2 Jeune thoracic dystrophy 2016-09-21 -0.6 1.0 Uncertain significance 0 -343980 Simple 34182424 T . Benign/Likely benign 2 2 Jeune thoracic dystrophy 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -344061 Simple 77546399 A . Uncertain significance 2 2 Sucrase-isomaltase deficiency;not specified 2017-02-02 -0.6 1.0 Uncertain significance 0 -344097 Simple 201820739 T . Pathogenic/Likely pathogenic 2 2 Deficiency of butyrylcholine esterase 2016-12-23 9.0 1.0 Pathogenic/Likely pathogenic 0 -344111 Simple 146858915 G . Benign/Likely benign 2 2 Cerebral cavernous malformation;not specified 2017-05-09 -9.0 0.5 Benign/Likely benign 0 -344119 Simple 61735307 G . Benign/Likely benign 2 3 Encephalopathy, familial, with neuroserpin inclusion bodies;not specified 2017-06-15 -15.0 0.6666666666666666 Benign/Likely benign 0 -344121 Simple 61735306 A . Likely benign 2 2 Encephalopathy, familial, with neuroserpin inclusion bodies 2017-06-20 -6.0 0.5 Likely benign 0 -344123 Simple 139808176 A . Benign/Likely benign 2 2 Encephalopathy, familial, with neuroserpin inclusion bodies 2017-05-19 -9.0 0.5 Benign/Likely benign 0 -344125 Simple 61750375 A . Benign/Likely benign 2 3 Encephalopathy, familial, with neuroserpin inclusion bodies;not provided 2017-08-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -344128 Simple 140116256 C . Benign/Likely benign 2 2 Encephalopathy, familial, with neuroserpin inclusion bodies 2017-03-24 -9.0 0.5 Benign/Likely benign 0 -344129 Simple 61735309 G . Benign/Likely benign 2 3 Encephalopathy, familial, with neuroserpin inclusion bodies;not provided 2017-08-22 -12.0 0.3333333333333333 Benign/Likely benign 0 -344131 Simple 55872908 A . Benign/Likely benign 2 2 Encephalopathy, familial, with neuroserpin inclusion bodies 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -344133 Simple 144637103 G . Likely benign 2 2 Encephalopathy, familial, with neuroserpin inclusion bodies 2017-07-28 -6.0 0.5 Likely benign 0 -344159 Simple 5397 C . Uncertain significance 2 2 Fanconi-Bickel syndrome;not provided 2016-08-31 -0.6 1.0 Uncertain significance 0 -344168 Simple 111737375 GAGA . Likely benign 2 2 Fanconi-Bickel syndrome;not specified 2016-08-03 -6.0 1.0 Likely benign 0 -344261 Simple 745852520 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-03-09 -0.6 0.5 Uncertain significance 0 -344267 Simple 374074877 AA . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -344348 Simple 186946267 T . Uncertain significance 2 2 Congenital disorder of glycosylation;not provided 2017-05-08 -0.6 0.5 Uncertain significance 0 -344352 Simple 2233466 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not provided 2017-07-19 -0.6 0.5 Uncertain significance 0 -344355 Simple 2233464 G . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -344482 Simple 200243596 T . Uncertain significance 2 2 not specified;Optic Atrophy, Dominant 2017-03-20 -0.6 0.5 Uncertain significance 0 -344528 Simple 145660527 T . Likely benign 2 2 Diamond-Blackfan anemia;not specified 2017-02-07 -6.0 1.0 Likely benign 0 -344530 Simple 116874993 T . Likely benign 2 2 Diamond-Blackfan anemia;not specified 2017-02-07 -6.0 1.0 Likely benign 0 -344727 Simple 148464224 C . Uncertain significance 2 2 Brugada syndrome 2017-06-09 -0.6 0.5 Uncertain significance 0 -344804 Simple 768012717 G . Uncertain significance 2 2 Osteogenesis imperfecta type 7;Osteogenesis Imperfecta, Recessive 2017-03-27 -0.6 0.5 Uncertain significance 0 -344807 Simple 201564256 G . Uncertain significance 2 2 Osteogenesis imperfecta type 7;Osteogenesis Imperfecta, Recessive 2017-03-15 -0.6 0.5 Uncertain significance 0 -344808 Simple 201267683 A . Uncertain significance 2 2 not specified;Osteogenesis Imperfecta, Recessive 2017-01-23 -0.6 1.0 Uncertain significance 0 -344905 Simple 771060933 T . Uncertain significance 2 2 Lynch syndrome;not specified 2017-11-10 -0.6 0.5 Uncertain significance 0 -345115 Simple 886058460 T . Uncertain significance 2 8 Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant 2017-03-16 -2.4 0.875 Uncertain significance 0 -345147 Simple 146940902 G . Benign/Likely benign 2 3 Hereditary sideroblastic anemia;Refractory anemia with ringed sideroblasts (clinical);not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -345181 Simple 150026260 A . Uncertain significance 2 2 not specified;Autosomal recessive cerebellar ataxia 2016-08-29 -0.6 1.0 Uncertain significance 0 -345189 Simple 146569520 C . Uncertain significance 2 4 not specified;not provided;Autosomal recessive cerebellar ataxia 2017-06-30 -1.2 0.75 Uncertain significance 0 -345192 Simple 61742945 G . Benign/Likely benign 2 2 not specified;Autosomal recessive cerebellar ataxia 2016-08-23 -9.0 1.0 Benign/Likely benign 0 -345316 Simple 137917233 G . Uncertain significance 2 2 Multiple sulfatase deficiency;not specified 2016-08-02 -0.6 1.0 Uncertain significance 0 -345501 Simple 41289618 C . Benign/Likely benign 2 2 Cataract, autosomal recessive congenital 2;Congenital cataract 2017-03-03 -9.0 1.0 Benign/Likely benign 0 -345512 Simple 36014492 T . Benign/Likely benign 2 2 Cataract, autosomal recessive congenital 2;Congenital cataract 2017-08-15 -9.0 0.5 Benign/Likely benign 0 -345534 Simple 9875356 T . Benign/Likely benign 2 2 Cataract, autosomal recessive congenital 2;Congenital cataract 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -345581 Simple 41290646 A . Likely benign 2 3 Chondrodysplasia;not provided;Metaphyseal chondrodysplasia 2017-08-10 -9.0 0.6666666666666666 Benign/Likely benign 1 -345604 Simple 139421901 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-06-20 -9.0 0.5 Benign/Likely benign 0 -345708 Simple 61757106 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-11-15 -9.0 1.0 Benign/Likely benign 0 -345724 Simple 2306878 A . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-09-02 -9.0 1.0 Benign/Likely benign 0 -345726 Simple 199698357 G . Uncertain significance 2 2 not provided;Spinocerebellar Ataxia, Dominant 2016-07-31 -0.6 1.0 Uncertain significance 0 -345733 Simple 193212750 C . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-08-16 -9.0 1.0 Benign/Likely benign 0 -345736 Simple 61757110 G . Likely benign 2 2 not provided;Spinocerebellar Ataxia, Dominant 2016-12-28 -6.0 1.0 Likely benign 0 -345737 Simple 3749383 G . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-10-07 -9.0 1.0 Benign/Likely benign 0 -345741 Simple 373127487 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2017-01-19 -9.0 1.0 Benign/Likely benign 0 -345759 Simple 41290672 T . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-10-13 -9.0 1.0 Benign/Likely benign 0 -345774 Simple 3135943 A . Benign/Likely benign 2 4 Aicardi Goutieres syndrome 1;Vasculopathy, retinal, with cerebral leukodystrophy;Aicardi Goutieres syndrome;not specified;Chilblain lupus erythematosus 2017-08-04 -18.0 0.75 Benign/Likely benign 0 -345778 Simple 3135944 C . Benign/Likely benign 2 3 Aicardi Goutieres syndrome 1;Vasculopathy, retinal, with cerebral leukodystrophy;Aicardi Goutieres syndrome;Chilblain lupus erythematosus 2017-08-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -345782 Simple 79720149 C . Benign/Likely benign 2 2 not specified;Spinocerebellar Ataxia, Dominant 2016-12-30 -9.0 1.0 Benign/Likely benign 0 -345869 Simple 886058642 T . Pathogenic/Likely pathogenic 2 2 Dystrophic epidermolysis bullosa;not provided 2016-06-14 8.4 1.5 Pathogenic/Likely pathogenic 0 -345941 Simple 149174359 G . Uncertain significance 2 2 Carnitine acylcarnitine translocase deficiency;not specified 2017-04-20 -0.6 0.5 Uncertain significance 0 -345943 Simple 757552268 - . Pathogenic/Likely pathogenic 2 2 Carnitine acylcarnitine translocase deficiency;not provided 2017-02-28 9.0 1.0 Pathogenic/Likely pathogenic 0 -345973 Simple 141473691 A . Uncertain significance 2 3 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;Nephrotic syndrome 2017-07-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -346118 Simple 34736117 C . Benign 2 5 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -29.4 1.0 Benign 0 -346119 Simple 763735807 A . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2016-10-03 -9.0 1.0 Benign/Likely benign 1 -346121 Simple 199560386 G . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-30 -9.0 0.6666666666666666 Benign/Likely benign 1 -346196 Simple 35221142 T . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -346200 Simple 78419624 A . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -346296 Simple 138060096 T . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-12-05 -9.0 1.0 Benign/Likely benign 0 -346302 Simple 7623314 T . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -346316 Simple 62621999 T . Likely benign 2 2 not provided;FLNB-Related Spectrum Disorders 2017-03-20 -6.0 0.5 Likely benign 0 -346333 Simple 17058845 A . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-10-10 -9.0 1.0 Benign/Likely benign 0 -346337 Simple 1064793554 - . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2017-09-25 -9.0 0.5 Benign/Likely benign 0 -346338 Simple 146851485 A . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-12-29 -9.0 1.0 Benign/Likely benign 0 -346341 Simple 142718547 G . Uncertain significance 2 2 not specified;FLNB-Related Spectrum Disorders 2016-09-15 -0.6 1.0 Uncertain significance 0 -346356 Simple 60599272 A . Benign/Likely benign 2 2 not specified;FLNB-Related Spectrum Disorders 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -346409 Simple 139242990 A . Uncertain significance 2 2 Pyruvate dehydrogenase complex deficiency;Pyruvate dehydrogenase E1-beta deficiency 2017-06-23 -0.6 0.5 Uncertain significance 0 -346804 Simple 35413339 T . Benign/Likely benign 2 2 Frontotemporal dementia;not specified 2017-02-10 -9.0 1.0 Benign/Likely benign 0 -346844 Simple 143373007 C . Uncertain significance 2 2 not specified;Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -346893 Simple 7614835 A . Benign/Likely benign 2 2 Protein S deficiency;Thrombophilia due to protein S deficiency, autosomal recessive 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -346913 Simple 146264035 A . Uncertain significance 2 2 Joubert syndrome;not specified 2016-11-15 -0.6 1.0 Uncertain significance 0 -346983 Simple 535432218 A . Uncertain significance 2 2 Hereditary coproporphyria;not specified 2016-10-27 -0.6 1.0 Uncertain significance 0 -347095 Simple 17033168 C . Benign/Likely benign 2 2 Beta-D-mannosidosis 2017-06-02 -9.0 0.5 Benign/Likely benign 0 -347096 Simple 227368 T . Benign 2 2 Beta-D-mannosidosis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -347099 Simple 6857760 T . Benign 2 2 Beta-D-mannosidosis 2017-07-18 -12.0 0.5 Benign/Likely benign 1 -347309 Simple 74976371 G . Benign/Likely benign 2 3 Long QT syndrome;not specified 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -347437 Simple 12499000 G . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -347439 Simple 140634372 T . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-18 -9.0 1.0 Benign/Likely benign 0 -347442 Simple 17051264 T . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-25 -9.0 1.0 Benign/Likely benign 0 -347444 Simple 343192 C . Benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -347445 Simple 74320998 T . Benign/Likely benign 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2016-10-13 -9.0 1.0 Benign/Likely benign 0 -347447 Simple 754469516 T . Uncertain significance 2 2 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified 2017-02-16 -0.6 1.0 Uncertain significance 0 -347482 Simple 114718913 C . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -347542 Simple 747197852 G . Uncertain significance 2 3 Ceroid lipofuscinosis neuronal 7;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive 2017-07-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -347760 Simple 752576142 A . Uncertain significance 2 4 Joubert syndrome;Meckel-Gruber syndrome;not specified;CC2D2A-Related Disorders 2016-10-27 -1.2 1.0 Uncertain significance 0 -347844 Simple 182369056 A . Uncertain significance 2 3 Joubert syndrome;Meckel-Gruber syndrome;not provided 2017-03-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -348027 Simple 1806729 A . Benign 2 2 Carcinoma of pancreas;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -348032 Simple 7673220 T . Benign 2 2 Carcinoma of pancreas;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -348098 Simple 7655924 T . Benign/Likely benign 2 2 not specified;Short Rib Polydactyly Syndrome 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -348101 Simple 77658514 T . Benign/Likely benign 2 2 not specified;Short Rib Polydactyly Syndrome 2017-01-03 -9.0 1.0 Benign/Likely benign 0 -348107 Simple 34099167 C . Benign 2 2 not specified;Short Rib Polydactyly Syndrome 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -348108 Simple 33933790 T . Benign/Likely benign 2 2 not specified;Short Rib Polydactyly Syndrome 2016-09-02 -9.0 1.0 Benign/Likely benign 0 -348114 Simple 34540355 A . Benign/Likely benign 2 3 Short rib-polydactyly syndrome, Majewski type;not specified;Short Rib Polydactyly Syndrome 2017-06-07 -15.0 0.6666666666666666 Benign/Likely benign 0 -348116 Simple 56064008 G . Benign/Likely benign 2 2 not specified;Short Rib Polydactyly Syndrome 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -348117 Simple 17055010 T . Benign 2 3 Short rib-polydactyly syndrome, Majewski type;not specified;Short Rib Polydactyly Syndrome 2017-08-07 -18.0 0.6666666666666666 Benign/Likely benign 1 -348123 Simple 55679731 G . Benign/Likely benign 2 2 not specified;Short Rib Polydactyly Syndrome 2016-06-29 -9.0 1.0 Benign/Likely benign 0 -348160 Simple 12645938 A . Benign/Likely benign 2 2 Dihydropteridine reductase deficiency;BH4-Deficient Hyperphenylalaninemia 2017-07-10 -9.0 0.5 Benign/Likely benign 0 -348553 Simple 4697552 G . Benign/Likely benign 2 2 Pontoneocerebellar hypoplasia;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -348569 Simple 140326137 T . Benign/Likely benign 2 2 Fibrous dysplasia of jaw 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -348574 Simple 35313240 T . Benign/Likely benign 2 2 Fibrous dysplasia of jaw 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -348582 Simple 141518457 A . Likely benign 2 2 Fibrous dysplasia of jaw 2017-06-30 -6.0 0.5 Likely benign 0 -348725 Simple 747603843 C . Uncertain significance 2 3 Jeune thoracic dystrophy;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia;Senior-Loken syndrome 8 2017-04-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -348754 Simple 201597047 T . Uncertain significance 2 3 Jeune thoracic dystrophy;Cranioectodermal dysplasia;not provided 2016-10-31 -0.8999999999999999 1.0 Uncertain significance 0 -348809 Simple 747626591 T . Benign/Likely benign 2 3 Congenital central hypoventilation;Neuroblastoma 2017-07-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -348810 Simple 751829128 C . Likely benign 2 3 Congenital central hypoventilation;Neuroblastoma 2017-05-01 -9.0 0.6666666666666666 Benign/Likely benign 1 -348886 Simple 571169918 T . Likely benign 2 3 Beta-sarcoglycanopathy;not specified;Limb-Girdle Muscular Dystrophy, Recessive 2017-09-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -348895 Simple 151259376 A . Benign/Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-08-11 -12.0 0.6666666666666666 Benign/Likely benign 0 -348896 Simple 142492533 T . Uncertain significance 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-04-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -348897 Simple 78405886 G . Benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-08-21 -18.0 0.6666666666666666 Benign/Likely benign 1 -348906 Simple 771421611 A . Uncertain significance 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-05-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -348909 Simple 148629782 G . Likely benign 2 3 Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome 2017-07-05 -9.0 0.6666666666666666 Benign/Likely benign 1 -348954 Simple 781130745 T . Uncertain significance 2 4 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism 2017-05-12 -1.2 0.75 Uncertain significance 0 -348955 Simple 56288823 T . Benign/Likely benign 2 4 Gastrointestinal stromal tumor;Mastocytosis;Partial albinism 2017-08-08 -15.0 0.75 Benign/Likely benign 0 -348980 Simple 200300612 G . Pathogenic/Likely pathogenic 2 2 not provided;Ellis-van Creveld Syndrome 2017-09-08 9.0 0.5 Pathogenic/Likely pathogenic 0 -348986 Simple 112554914 A . Benign/Likely benign 2 2 not specified;Ellis-van Creveld Syndrome 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -348992 Simple 75829835 C . Benign/Likely benign 2 2 not specified;Ellis-van Creveld Syndrome 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -349004 Simple 111568566 A . Likely benign 2 2 Congenital disorder of glycosylation;not specified 2017-05-22 -6.0 0.5 Likely benign 0 -349068 Simple 7660517 C . Benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -349087 Simple 77131452 C . Benign/Likely benign 2 5 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-07-28 -20.7 1.0 Benign/Likely benign 0 -349091 Simple 77793386 A . Benign/Likely benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-05-16 -15.0 0.6666666666666666 Benign/Likely benign 0 -349094 Simple 114024753 C . Benign/Likely benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-08-15 -14.4 1.0 Benign/Likely benign 0 -349117 Simple 111673705 T . Likely benign 2 2 not specified;Bone marrow failure syndrome 1 2017-04-10 -6.0 0.5 Likely benign 0 -349129 Simple 886059497 AA . Benign/Likely benign 2 2 not specified;Bone marrow failure syndrome 1 2016-11-28 -9.0 1.0 Benign/Likely benign 0 -349132 Simple 145347209 C . Likely benign 2 2 not specified;Bone marrow failure syndrome 1 2016-10-27 -6.0 1.0 Likely benign 0 -349134 Simple 143643243 A . Likely benign 2 2 not specified;Bone marrow failure syndrome 1 2017-04-10 -6.0 0.5 Likely benign 0 -349135 Simple 148068843 G . Likely benign 2 2 not specified;Bone marrow failure syndrome 1 2017-04-12 -6.0 0.5 Likely benign 0 -349169 Simple 55955937 T . Benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-06-14 -18.0 1.0 Benign/Likely benign 1 -349176 Simple 141859946 A . Benign/Likely benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;Ellis-van Creveld Syndrome 2017-05-03 -12.0 0.6666666666666666 Benign/Likely benign 0 -349183 Simple 112608085 G . Likely benign 2 3 Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2016-12-05 -9.0 1.0 Benign/Likely benign 1 -349200 Simple 73795088 A . Benign/Likely benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;Ellis-van Creveld Syndrome 2017-05-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -349201 Simple 73795089 A . Benign/Likely benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;Ellis-van Creveld Syndrome 2017-05-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -349206 Simple 60082311 G . Benign 2 4 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome 2017-08-02 -24.0 0.75 Benign 0 -349211 Simple 35287723 A . Benign/Likely benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;Ellis-van Creveld Syndrome 2017-05-02 -12.0 0.6666666666666666 Benign/Likely benign 0 -349328 Simple 764842865 A . Uncertain significance 2 3 not specified;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant 2017-03-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -349456 Simple 4986942 A . Benign/Likely benign 2 2 not specified;Isolated GnRH Deficiency 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -349715 Simple 148663672 T . Uncertain significance 2 3 Cryptophthalmos syndrome;not specified;not provided 2017-05-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -349803 Simple 779521854 T . Uncertain significance 2 2 Cryptophthalmos syndrome;not specified 2017-05-03 -0.6 0.5 Uncertain significance 0 -349980 Simple 149603030 C . Uncertain significance 2 2 not specified;Hypophosphatemic Rickets, Recessive 2016-11-07 -0.6 1.0 Uncertain significance 0 -350022 Simple 1801612 G . Benign/Likely benign 2 2 Polycystic kidney disease, autosomal dominant 2016-12-15 -9.0 1.0 Benign/Likely benign 0 -350118 Simple 56083112 T . Benign/Likely benign 2 2 Brachydactyly type A2;Acromesomelic dysplasia, Demirhan type;Brachydactyly 2017-02-13 -9.0 1.0 Benign/Likely benign 0 -350410 Simple 375175370 T . Benign/Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-07-31 -20.4 1.0 Benign/Likely benign 0 -350414 Simple 752065261 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-10-25 -1.2 0.75 Uncertain significance 0 -350416 Simple 773776516 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-04-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -350419 Simple 886059797 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-08-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -350424 Simple 886059800 G . Uncertain significance 2 2 not specified;APC-Associated Polyposis Disorders 2017-03-20 -0.6 0.5 Uncertain significance 0 -350425 Simple 886059801 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders 2017-06-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -350498 Simple 55712196 C . Likely benign 2 2 not specified;Parkinson Disease, Dominant/Recessive 2016-06-14 -6.0 1.0 Likely benign 0 -350593 Simple 542440625 A . Likely benign 2 4 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;Dyskeratosis Congenita, Recessive 2017-03-01 -12.0 1.0 Benign/Likely benign 1 -350637 Simple 41298304 G . Uncertain significance 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 2017-04-03 -0.6 0.5 Uncertain significance 0 -350724 Simple 377216965 C . Benign/Likely benign 2 4 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;Dyskeratosis Congenita, Recessive 2017-07-15 -15.0 0.75 Benign/Likely benign 0 -350759 Simple 142747169 C . Uncertain significance 2 2 Congenital contractural arachnodactyly 2017-03-26 -0.6 0.5 Uncertain significance 0 -350763 Simple 114376818 T . Benign/Likely benign 2 2 Congenital contractural arachnodactyly 2017-01-18 -9.0 1.0 Benign/Likely benign 0 -350773 Simple 762567430 C . Uncertain significance 2 2 Congenital contractural arachnodactyly 2017-06-21 -0.6 0.5 Uncertain significance 0 -350778 Simple 201288931 C . Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2016-06-20 -6.0 1.0 Likely benign 0 -350779 Simple 142323824 A . Benign/Likely benign 2 2 Congenital contractural arachnodactyly;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -350804 Simple 11952056 G . Likely benign 2 4 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;Dyskeratosis Congenita, Recessive 2016-12-19 -12.0 1.0 Benign/Likely benign 1 -350805 Simple 573817924 A . Likely benign 2 4 Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;Dyskeratosis Congenita, Recessive 2017-07-26 -12.0 0.75 Benign/Likely benign 1 -350995 Simple 775696136 AA . Pathogenic/Likely pathogenic 2 2 Primary ciliary dyskinesia 2017-03-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -351011 Simple 766597612 G . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-06-14 -0.6 1.0 Uncertain significance 0 -351029 Simple 145427063 A . Uncertain significance 2 6 Spheroid body myopathy;Myotilinopathy;not specified;not provided;Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant 2017-06-23 -1.7999999999999998 0.6666666666666666 Uncertain significance 0 -351036 Simple 200798994 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-03-24 -0.6 0.5 Uncertain significance 0 -351048 Simple 141971313 C . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-02-16 -0.6 1.0 Uncertain significance 0 -351053 Simple 527914224 G . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-05-11 -0.6 0.5 Uncertain significance 0 -351060 Simple 151287187 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-04-05 -0.6 0.5 Uncertain significance 0 -351066 Simple 144983881 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-05-12 -0.6 0.5 Uncertain significance 0 -351074 Simple 779649580 T . Uncertain significance 2 3 Marinesco-Sjögren syndrome;not specified 2017-03-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -351086 Simple 149242794 A . Likely benign 2 2 Marinesco-Sjögren syndrome;not specified 2017-05-26 -6.0 0.5 Likely benign 0 -351096 Simple 565561096 - . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -351097 Simple 35581768 C . Benign/Likely benign 2 3 Marinesco-Sjögren syndrome;not provided 2017-02-28 -12.0 1.0 Benign/Likely benign 0 -351120 Simple 184609870 T . Likely benign 2 2 Amyotrophic lateral sclerosis 21;Distal myopathy 2017-02-16 -6.0 1.0 Likely benign 0 -351121 Simple 147239107 G . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis 21;Distal myopathy 2017-03-28 -9.0 0.5 Benign/Likely benign 0 -351126 Simple 141986556 T . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis 21;Distal myopathy 2016-12-27 -9.0 1.0 Benign/Likely benign 0 -351131 Simple 143527811 T . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis 21;Distal myopathy 2017-02-18 -9.0 1.0 Benign/Likely benign 0 -351137 Simple 189752689 T . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis 21;Distal myopathy 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -351138 Simple 148402819 G . Likely benign 2 2 Amyotrophic lateral sclerosis 21;Distal myopathy 2017-02-24 -6.0 1.0 Likely benign 0 -351193 Simple 145672251 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-06-09 -0.6 0.5 Uncertain significance 0 -351201 Simple 369244905 T . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2017-04-28 -0.6 0.5 Uncertain significance 0 -351208 Simple 137878131 C . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-08-16 -0.6 0.5 Uncertain significance 0 -351240 Simple 138582560 A . Uncertain significance 2 2 Retinitis pigmentosa-deafness syndrome;Usher syndrome, type 3B 2017-06-28 -0.6 0.5 Uncertain significance 0 -351510 Simple 11319 A . Benign/Likely benign 2 2 Hereditary pancreatitis;not specified 2016-10-14 -9.0 1.0 Benign/Likely benign 0 -351527 Simple 35877540 G . Benign/Likely benign 2 3 Netherton syndrome;not specified 2017-07-19 -14.4 1.0 Benign/Likely benign 0 -351531 Simple 190365795 T . Benign/Likely benign 2 2 Netherton syndrome 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -351536 Simple 114635730 G . Benign/Likely benign 2 2 Netherton syndrome 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -351538 Simple 115820034 C . Benign/Likely benign 2 2 Netherton syndrome 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -351541 Simple 17705005 G . Benign/Likely benign 2 2 Netherton syndrome 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -351545 Simple 115366845 T . Benign/Likely benign 2 2 Netherton syndrome 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -351906 Simple 78120278 C . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2017-07-20 -12.0 0.6666666666666666 Benign/Likely benign 0 -351913 Simple 201256776 C . Uncertain significance 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve 2017-06-12 -1.2 0.5 Uncertain significance 0 -351980 Simple 138315990 A . Uncertain significance 2 2 not specified;Retinitis Pigmentosa, Recessive 2016-12-09 -0.6 1.0 Uncertain significance 0 -352200 Simple 112039991 T . Likely benign 2 2 not provided;Treacher Collins Syndrome, Dominant 2017-01-11 -6.0 1.0 Likely benign 0 -352202 Simple 75181211 T . Benign/Likely benign 2 2 Treacher Collins syndrome 1;Treacher Collins Syndrome, Dominant 2017-02-14 -9.0 1.0 Benign/Likely benign 0 -352203 Simple 114326915 T . Likely benign 2 2 not provided;Treacher Collins Syndrome, Dominant 2017-05-04 -6.0 0.5 Likely benign 0 -352220 Simple 181102251 T . Benign/Likely benign 2 2 Treacher Collins syndrome 1;Treacher Collins Syndrome, Dominant 2017-02-14 -9.0 1.0 Benign/Likely benign 0 -352232 Simple 137960641 A . Likely benign 2 2 not specified;Treacher Collins Syndrome, Dominant 2017-01-18 -6.0 1.0 Likely benign 0 -352236 Simple 574569798 - . Benign/Likely benign 2 3 Treacher Collins syndrome 1;not provided;Treacher Collins Syndrome, Dominant 2016-11-15 -13.8 1.6666666666666667 Benign/Likely benign 0 -352306 Simple 62636580 A . Benign 2 2 Hyperekplexia hereditary;Hyperekplexia 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -352308 Simple 62636581 A . Benign 2 3 Hyperekplexia hereditary;Hyperekplexia;not provided 2017-08-01 -18.0 0.6666666666666666 Benign/Likely benign 1 -352310 Simple 75463357 T . Benign/Likely benign 2 2 Hyperekplexia hereditary;Hyperekplexia 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -352311 Simple 17112272 A . Benign/Likely benign 2 2 Hyperekplexia hereditary;Hyperekplexia 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -352312 Simple 76872663 G . Benign/Likely benign 2 2 Hyperekplexia hereditary;Hyperekplexia 2017-04-23 -9.0 0.5 Benign/Likely benign 0 -352315 Simple 73285947 C . Benign 2 2 Hyperekplexia hereditary;Hyperekplexia 2017-08-03 -12.0 0.5 Benign/Likely benign 1 -352316 Simple 114046477 A . Likely benign 2 2 Hyperekplexia hereditary;Hyperekplexia 2017-07-26 -6.0 0.5 Likely benign 0 -352318 Simple 112970419 A . Benign/Likely benign 2 2 Hyperekplexia hereditary;Hyperekplexia 2017-05-17 -9.0 0.5 Benign/Likely benign 0 -352321 Simple 149023945 G . Benign/Likely benign 2 2 Hyperekplexia hereditary;Hyperekplexia 2017-07-08 -9.0 0.5 Benign/Likely benign 0 -352323 Simple 74542605 G . Likely benign 2 2 Hyperekplexia hereditary;Hyperekplexia 2017-03-28 -6.0 0.5 Likely benign 0 -352335 Simple 368838376 A . Benign/Likely benign 2 4 Delta-sarcoglycanopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive 2017-01-10 -15.0 1.0 Benign/Likely benign 0 -352467 Simple 55646940 T . Benign/Likely benign 2 2 Lymphoproliferative syndrome 1;Lymphoproliferative syndrome 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -352509 Simple 188020393 T . Uncertain significance 2 2 not provided;Congenital ichthyosiform erythroderma 2017-06-30 -0.6 0.5 Uncertain significance 0 -352572 Simple 3213119 A . Benign/Likely benign 2 2 Immunodeficiency 29;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -352576 Simple 3213099 G . Benign/Likely benign 2 2 Immunodeficiency 29;Familial Atypical Mycobacteriosis, Autosomal Recessive 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -352691 Simple 368759467 A . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type II;not specified 2017-08-17 -0.6 0.5 Uncertain significance 0 -352694 Simple 61741225 T . Benign/Likely benign 2 3 Hereditary sensory and autonomic neuropathy type IIB;Hereditary sensory and autonomic neuropathy type II;not specified 2016-11-28 -15.0 1.0 Benign/Likely benign 0 -352801 Simple 73317796 A . Likely benign 2 2 Frank Ter Haar syndrome;not provided 2017-01-09 -6.0 1.0 Likely benign 0 -352810 Simple 62621449 T . Benign/Likely benign 2 2 Frank Ter Haar syndrome;not provided 2017-01-09 -9.0 1.0 Benign/Likely benign 0 -352838 Simple 201880865 A . Benign/Likely benign 2 3 Parietal foramina 1;Craniosynostosis;Enlarged parietal foramina 2017-06-05 -12.0 0.6666666666666666 Benign/Likely benign 0 -352892 Simple 200241618 C . Benign/Likely benign 2 3 Beckwith-Wiedemann syndrome;Weaver syndrome;Sotos Syndrome 2017-01-27 -12.0 1.0 Benign/Likely benign 0 -352996 Simple 77098327 G . Likely benign 2 3 not specified;Reduced factor XII activity;Hereditary Angioedema 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -353016 Simple 4072924 T . Benign 2 3 not specified;Combined Pituitary Hormone Deficiency, Recessive 2017-07-27 -18.0 0.6666666666666666 Benign/Likely benign 1 -353017 Simple 1135320 G . Benign 2 3 not specified;Combined Pituitary Hormone Deficiency, Recessive 2017-07-27 -18.0 0.6666666666666666 Benign/Likely benign 1 -353025 Simple 79031130 T . Uncertain significance 2 2 not specified;Dyskeratosis Congenita, Recessive 2016-12-20 -0.6 1.0 Uncertain significance 0 -353029 Simple 371173524 A . Uncertain significance 2 2 not specified;Dyskeratosis Congenita, Recessive 2016-09-28 -0.6 1.0 Uncertain significance 0 -353083 Simple 1054480 A . Benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-10-07 -12.0 1.0 Benign/Likely benign 1 -353085 Simple 34437036 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-01-09 -9.0 1.0 Benign/Likely benign 0 -353094 Simple 200309353 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive 2017-04-12 -0.6 0.5 Uncertain significance 0 -353100 Simple 6869261 C . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-08-01 -15.0 0.6666666666666666 Benign/Likely benign 0 -353102 Simple 2303644 A . Benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-09-30 -12.0 1.0 Benign/Likely benign 1 -353103 Simple 35445112 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-07-28 -15.0 0.6666666666666666 Benign/Likely benign 0 -353107 Simple 140401199 C . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-10-04 -9.0 1.0 Benign/Likely benign 0 -353115 Simple 1972715 A . Benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-09-30 -12.0 1.0 Benign/Likely benign 1 -353117 Simple 1862211 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-08-01 -15.0 0.6666666666666666 Benign/Likely benign 0 -353118 Simple 140621260 T . Uncertain significance 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-08-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -353119 Simple 76754323 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -353127 Simple 17667857 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-06-16 -0.6 0.5 Uncertain significance 0 -353128 Simple 35462609 A . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-08-04 -15.0 0.6666666666666666 Benign/Likely benign 0 -353129 Simple 66565583 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-10-05 -9.0 1.0 Benign/Likely benign 0 -353130 Simple 423552 T . Benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -353131 Simple 376820857 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not provided 2017-02-28 -0.6 1.0 Uncertain significance 0 -353134 Simple 398829 T . Benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -353135 Simple 372103269 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not provided 2016-09-30 -0.6 1.0 Uncertain significance 0 -353136 Simple 11750821 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-10-06 -9.0 1.0 Benign/Likely benign 0 -353137 Simple 202197821 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-05-04 -0.6 0.5 Uncertain significance 0 -353138 Simple 59567206 C . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-06-10 -15.0 0.6666666666666666 Benign/Likely benign 0 -353141 Simple 2271213 G . Benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -353143 Simple 2271212 G . Benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-09-29 -12.0 1.0 Benign/Likely benign 1 -353147 Simple 568040559 GCAGCA . Benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -353149 Simple 886060499 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-02-23 -0.6 1.0 Uncertain significance 0 -353157 Simple 767340839 T . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;Paget disease of bone 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -353165 Simple 61748794 A . Benign/Likely benign 2 2 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;Paget disease of bone 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -353201 Simple 142926807 C . Benign/Likely benign 2 5 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-08-07 -20.4 1.0 Benign/Likely benign 0 -353205 Simple 766352407 A . Uncertain significance 2 4 Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5 2017-05-17 -1.2 0.75 Uncertain significance 0 -353242 Simple 140021599 C . Benign/Likely benign 2 2 Alpha-methylacyl-CoA racemase deficiency;not provided 2016-09-01 -9.0 1.0 Benign/Likely benign 0 -353254 Simple 9282594 A . Benign/Likely benign 2 3 Alpha-methylacyl-CoA racemase deficiency;not specified 2017-07-14 -14.4 1.0 Benign/Likely benign 0 -353255 Simple 16892150 T . Benign/Likely benign 2 2 Alpha-methylacyl-CoA racemase deficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -353261 Simple 149235072 A . Benign/Likely benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;Severe Combined Immune Deficiency 2017-06-13 -9.0 0.5 Benign/Likely benign 0 -353264 Simple 200373233 A . Uncertain significance 2 2 not specified;Severe Combined Immune Deficiency 2017-05-11 -0.6 0.5 Uncertain significance 0 -353306 Simple 143791614 C . Benign/Likely benign 2 2 Episodic ataxia;not specified 2017-02-22 -9.0 1.0 Benign/Likely benign 0 -353311 Simple 200867287 T . Benign/Likely benign 2 2 Episodic ataxia;not specified 2016-12-01 -9.0 1.0 Benign/Likely benign 0 -353418 Simple 116198390 C . Uncertain significance 2 2 Joubert syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -353421 Simple 147426388 A . Uncertain significance 2 2 Joubert syndrome;not specified 2016-12-21 -0.6 1.0 Uncertain significance 0 -353438 Simple 372655878 G . Uncertain significance 2 2 Joubert syndrome;not specified 2016-10-19 -0.6 1.0 Uncertain significance 0 -353445 Simple 199524299 G . Uncertain significance 2 2 Joubert syndrome;not specified 2016-06-14 -0.6 1.0 Uncertain significance 0 -353898 Simple 35258119 A . Benign/Likely benign 2 3 Distal hereditary motor neuronopathy type 2C;not specified;Distal hereditary motor neuronopathy 2017-04-28 -15.0 0.3333333333333333 Benign/Likely benign 0 -353902 Simple 41270303 G . Benign/Likely benign 2 2 Distal hereditary motor neuronopathy type 2C;Distal hereditary motor neuronopathy 2017-05-12 -9.0 0.5 Benign/Likely benign 0 -353992 Simple 1553114 T . Benign 2 2 not specified;Acrodysostosis 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -354135 Simple 5030731 A . Pathogenic/Likely pathogenic 2 2 Sandhoff disease 2017-06-19 9.0 0.5 Pathogenic/Likely pathogenic 0 -354162 Simple 79008179 A . Likely benign 2 2 not specified;Striatal Degeneration 2016-06-14 -6.0 1.0 Likely benign 0 -354221 Simple 191616060 A . Uncertain significance 2 2 Hermansky-Pudlak syndrome;Hermansky Pudlak syndrome 2 2017-06-28 -0.6 0.5 Uncertain significance 0 -354224 Simple 115340604 A . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;Hermansky Pudlak syndrome 2 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -354230 Simple 62001050 T . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;Hermansky Pudlak syndrome 2 2017-06-14 -9.0 0.5 Benign/Likely benign 0 -354242 Simple 76433453 G . Benign/Likely benign 2 2 Hermansky-Pudlak syndrome;Hermansky Pudlak syndrome 2 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -354253 Simple 5868908 AA . Benign 2 2 Hermansky-Pudlak syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -354359 Simple 10064631 G . Benign/Likely benign 2 4 Disorders of Intracellular Cobalamin Metabolism;not specified;not provided 2017-05-17 -20.4 1.0 Benign/Likely benign 0 -354504 Simple 146525982 G . Benign/Likely benign 2 3 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome 2017-01-23 -12.0 1.0 Benign/Likely benign 0 -354506 Simple 755788420 A . Uncertain significance 2 3 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome 2016-06-16 -0.8999999999999999 1.0 Uncertain significance 0 -354509 Simple 137878395 A . Benign/Likely benign 2 4 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome;not specified 2017-07-13 -15.0 0.5 Benign/Likely benign 0 -354514 Simple 150779406 C . Benign/Likely benign 2 3 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome 2017-01-23 -12.0 1.0 Benign/Likely benign 0 -354516 Simple 140707293 A . Benign/Likely benign 2 3 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome 2016-12-11 -12.0 1.0 Benign/Likely benign 0 -354517 Simple 181630831 A . Benign/Likely benign 2 3 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome 2017-07-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -354519 Simple 145752649 G . Benign/Likely benign 2 4 Capillary malformation-arteriovenous malformation;Parkes Weber syndrome;not specified 2017-04-25 -18.0 0.75 Benign/Likely benign 0 -354593 Simple 886060865 - . Uncertain significance 2 3 Frontotemporal dementia;not specified;Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 2016-06-14 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -355033 Simple 145337669 G . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-07-20 -12.0 0.6666666666666666 Benign/Likely benign 0 -355038 Simple 61729087 C . Benign/Likely benign 2 4 Charcot-Marie-Tooth disease, type IV;not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-07-17 -18.0 0.75 Benign/Likely benign 0 -355043 Simple 750091928 A . Uncertain significance 2 3 not specified;Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth, Type 4 2017-03-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -355103 Simple 148785195 T . Likely benign 2 2 not provided;Metaphyseal chondrodysplasia 2017-01-27 -6.0 1.0 Likely benign 0 -355158 Simple 56199702 A . Likely benign 2 4 Hypoplastic left heart syndrome 1;Oculodentodigital dysplasia;Syndactyly;not provided 2017-01-24 -12.0 1.0 Benign/Likely benign 1 -355163 Simple 145215218 A . Likely benign 2 4 Hypoplastic left heart syndrome 1;Oculodentodigital dysplasia, autosomal recessive;Oculodentodigital dysplasia;Syndactyly 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -355248 Simple 140604077 A . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;Congenital Muscular Dystrophy, LAMA2-related 2017-04-25 -0.6 0.5 Uncertain significance 0 -355275 Simple 759155854 A . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;Congenital Muscular Dystrophy, LAMA2-related 2016-12-24 -0.6 1.0 Uncertain significance 0 -355280 Simple 141911213 G . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;Congenital Muscular Dystrophy, LAMA2-related 2017-04-26 -0.6 0.5 Uncertain significance 0 -355286 Simple 73775410 T . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-08-04 -15.0 0.6666666666666666 Benign/Likely benign 0 -355293 Simple 146854942 G . Uncertain significance 2 2 not specified;Congenital Muscular Dystrophy, LAMA2-related 2017-08-29 -0.6 0.5 Uncertain significance 0 -355294 Simple 145885540 T . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;Congenital Muscular Dystrophy, LAMA2-related 2017-06-05 -0.6 0.5 Uncertain significance 0 -355554 Simple 11914 C . Benign/Likely benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -355555 Simple 3799488 C . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -355562 Simple 7749390 G . Benign 2 2 not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -355678 Simple 200771803 T . Uncertain significance 2 2 Congenital hypothyroidism;not specified 2016-11-07 -0.6 1.0 Uncertain significance 0 -355819 Simple 76699382 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-24 -18.0 0.75 Benign/Likely benign 0 -355825 Simple 139362680 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-28 -15.0 0.75 Benign/Likely benign 0 -355831 Simple 761577958 AA . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-12-30 -0.8999999999999999 1.0 Uncertain significance 0 -355838 Simple 367864272 G . Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -355839 Simple 35654757 A . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-18 -15.0 0.75 Benign/Likely benign 0 -355840 Simple 187885923 T . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-01-18 -9.0 1.0 Benign/Likely benign 1 -355859 Simple 35987150 G . Benign/Likely benign 2 4 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-06 -18.0 0.75 Benign/Likely benign 0 -355865 Simple 187403476 T . Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia 2017-07-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -355867 Simple 35493783 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-22 -15.0 0.5 Benign/Likely benign 0 -355871 Simple 17082484 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-12-22 -12.0 1.0 Benign/Likely benign 0 -355875 Simple 115535983 A . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-01-04 -9.0 1.0 Benign/Likely benign 1 -355876 Simple 771898973 T . Uncertain significance 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-09-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -355880 Simple 148204741 T . Benign/Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia 2017-08-03 -12.0 0.6666666666666666 Benign/Likely benign 0 -355882 Simple 73783853 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -355888 Simple 79486252 G . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-11-01 -18.0 1.0 Benign/Likely benign 0 -355893 Simple 184006845 A . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-10-07 -9.0 1.0 Benign/Likely benign 1 -355903 Simple 79449810 A . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-09-30 -12.0 1.0 Benign/Likely benign 0 -355905 Simple 571742202 G . Benign/Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia 2016-10-12 -12.0 1.0 Benign/Likely benign 0 -355908 Simple 550804556 A . Benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-11-01 -18.0 1.0 Benign/Likely benign 1 -355911 Simple 78034368 C . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -355913 Simple 200802315 G . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-07-07 -9.0 1.0 Benign/Likely benign 1 -355917 Simple 117184249 T . Benign/Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia 2017-04-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -355919 Simple 116600265 C . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-07-06 -9.0 0.6666666666666666 Benign/Likely benign 1 -355922 Simple 76393834 A . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-19 -18.0 0.75 Benign/Likely benign 0 -355927 Simple 200763530 G . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-12-27 -9.0 1.0 Benign/Likely benign 1 -355930 Simple 555800735 G . Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-12-15 -9.0 1.0 Benign/Likely benign 1 -355936 Simple 146001055 T . Benign/Likely benign 2 4 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2017-06-06 -15.0 0.75 Benign/Likely benign 0 -355948 Simple 80276170 C . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified 2016-07-20 -12.0 1.0 Benign/Likely benign 0 -356017 Simple 9456711 C . Benign/Likely benign 2 3 Parkinson disease 2;not provided;Parkinson Disease, Juvenile 2017-07-29 -15.0 0.6666666666666666 Benign/Likely benign 0 -356020 Simple 77795533 T . Benign/Likely benign 2 2 Parkinson disease 2;Parkinson Disease, Juvenile 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -356126 Simple 185042766 G . Benign/Likely benign 2 3 Succinate-semialdehyde dehydrogenase deficiency;not provided 2017-06-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -356128 Simple 535825137 G . Uncertain significance 2 2 Succinate-semialdehyde dehydrogenase deficiency 2017-08-11 -0.6 0.5 Uncertain significance 0 -356133 Simple 76752785 T . Benign/Likely benign 2 2 Succinate-semialdehyde dehydrogenase deficiency 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -356134 Simple 114082057 A . Benign/Likely benign 2 2 Succinate-semialdehyde dehydrogenase deficiency 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -356140 Simple 368212282 C . Uncertain significance 2 2 Succinate-semialdehyde dehydrogenase deficiency;not specified 2016-08-22 -0.6 1.0 Uncertain significance 0 -356245 Simple 1042663 A . Benign/Likely benign 2 3 Complement component 2 deficiency;not specified;Macular degeneration 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -356316 Simple 438999 G . Benign/Likely benign 2 2 not specified;Trichohepatoenteric syndrome 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -356318 Simple 437179 C . Benign 2 2 not specified;Trichohepatoenteric syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -356345 Simple 410851 C . Benign 2 2 not specified;Trichohepatoenteric syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -356346 Simple 449643 T . Benign 2 2 not specified;Trichohepatoenteric syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -356360 Simple 371747700 G . Uncertain significance 2 2 Nakajo syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -356365 Simple 9276810 A . Benign 2 2 Nakajo syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -356366 Simple 79482999 A . Benign/Likely benign 2 2 Nakajo syndrome 2017-07-03 -9.0 0.5 Benign/Likely benign 0 -356368 Simple 2071543 T . Benign/Likely benign 2 2 Nakajo syndrome;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -356370 Simple 114772012 T . Benign/Likely benign 2 2 Nakajo syndrome 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -356386 Simple 537455619 T . Likely benign 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-11-09 -18.0 1.0 Benign/Likely benign 1 -356408 Simple 140266192 A . Uncertain significance 2 6 Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant 2016-11-07 -1.7999999999999998 1.0 Uncertain significance 0 -356419 Simple 147566753 A . Benign/Likely benign 2 2 Diamond-Blackfan anemia 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -356423 Simple 146246722 T . Benign/Likely benign 2 2 Diamond-Blackfan anemia 2016-11-03 -9.0 1.0 Benign/Likely benign 0 -356443 Simple 186563531 A . Benign/Likely benign 2 2 Fanconi anemia;Fanconi anemia, complementation group E 2017-07-05 -9.0 0.5 Benign/Likely benign 0 -356453 Simple 200083899 G . Uncertain significance 2 2 Fanconi anemia;Fanconi anemia, complementation group E 2016-11-16 -0.6 1.0 Uncertain significance 0 -356669 Simple 144238782 T . Uncertain significance 2 2 not specified;Molybdenum cofactor deficiency 2017-05-31 -0.6 0.5 Uncertain significance 0 -356678 Simple 2234253 T . Benign/Likely benign 2 2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;not provided 2016-09-12 -9.0 1.0 Benign/Likely benign 0 -356797 Simple 200121485 AAAA . Benign/Likely benign 2 2 Zellweger syndrome;not specified 2016-06-14 -7.8 2.0 Likely benign 1 -356817 Simple 750060978 C . Uncertain significance 2 2 Three M syndrome;not provided 2017-03-29 -0.6 0.5 Uncertain significance 0 -356844 Simple 7774330 C . Likely benign 2 2 Three M syndrome;not provided 2017-02-23 -6.0 1.0 Likely benign 0 -356851 Simple 73733791 T . Benign/Likely benign 2 2 Three M syndrome;not provided 2017-02-23 -9.0 1.0 Benign/Likely benign 0 -356852 Simple 113845886 A . Benign/Likely benign 2 2 Three M syndrome;not provided 2017-02-23 -9.0 1.0 Benign/Likely benign 0 -357072 Simple 144914586 - . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2017-10-31 -9.0 0.5 Benign/Likely benign 0 -357073 Simple 147091256 A . Uncertain significance 2 2 not specified;Combined oxidative phosphorylation deficiency 2017-03-09 -0.6 0.5 Uncertain significance 0 -357096 Simple 11498198 A . Benign/Likely benign 2 3 Cleidocranial dysostosis;not specified;not provided 2017-03-17 -12.0 0.6666666666666666 Benign/Likely benign 0 -357261 Simple 367641890 G . Uncertain significance 2 2 Methylmalonic acidemia;not specified 2017-04-25 -0.6 0.5 Uncertain significance 0 -357423 Simple 760222236 G . Pathogenic 2 3 Autosomal recessive polycystic kidney disease;not provided 2017-08-08 18.0 0.3333333333333333 Pathogenic 0 -357427 Simple 886061616 G . Likely pathogenic 2 2 Autosomal recessive polycystic kidney disease;not provided 2017-08-08 6.0 0.5 Likely pathogenic 0 -357468 Simple 11465553 T . Benign/Likely benign 2 2 Candidiasis, familial, 6;Familial Candidiasis, Dominant 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -357469 Simple 2397084 C . Benign 2 2 not specified;Familial Candidiasis, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -357543 Simple 150191284 C . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -357555 Simple 115542549 C . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -357560 Simple 148856756 C . Uncertain significance 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-07-19 -0.6 0.5 Uncertain significance 0 -357563 Simple 79943354 C . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-07-05 -9.0 0.5 Benign/Likely benign 0 -357568 Simple 2230864 G . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-07-29 -9.0 0.5 Benign/Likely benign 0 -357569 Simple 2230863 G . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -357572 Simple 191617697 A . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -357575 Simple 144279221 C . Uncertain significance 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-04-04 -0.6 0.5 Uncertain significance 0 -357576 Simple 78701610 A . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -357583 Simple 142302277 T . Uncertain significance 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-06-26 -0.6 0.5 Uncertain significance 0 -357584 Simple 35497571 C . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-08-09 -9.0 0.5 Benign/Likely benign 0 -357588 Simple 6909714 A . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-06-19 -9.0 0.5 Benign/Likely benign 0 -357591 Simple 115890942 T . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -357595 Simple 35014998 C . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -357596 Simple 112640831 G . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -357599 Simple 35715547 C . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-05-11 -9.0 0.5 Benign/Likely benign 0 -357600 Simple 78600049 A . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -357606 Simple 79026338 A . Benign/Likely benign 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -357614 Simple 41267671 T . Uncertain significance 2 2 Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-05-26 -0.6 0.5 Uncertain significance 0 -357700 Simple 200374024 A . Uncertain significance 2 2 not provided;Retinitis Pigmentosa, Recessive 2016-10-31 -0.6 1.0 Uncertain significance 0 -357727 Simple 192059823 A . Uncertain significance 2 2 not provided;Retinitis Pigmentosa, Recessive 2016-12-31 -0.6 1.0 Uncertain significance 0 -357772 Simple 114726590 G . Benign/Likely benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -357775 Simple 34327883 A . Benign/Likely benign 2 2 Disorders of Intracellular Cobalamin Metabolism;not specified 2016-06-29 -9.0 1.0 Benign/Likely benign 0 -357857 Simple 201017334 T . Uncertain significance 2 2 not specified;Cone-Rod Dystrophy, Dominant 2017-10-25 -0.6 0.5 Uncertain significance 0 -357940 Simple 747815091 A . Uncertain significance 2 5 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy, ARVC 2016-06-14 -1.5 1.0 Uncertain significance 0 -357942 Simple 28763963 G . Benign/Likely benign 2 5 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy, ARVC 2017-06-30 -18.0 0.8 Benign/Likely benign 0 -357943 Simple 755067397 A . Uncertain significance 2 5 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy, ARVC 2016-07-16 -1.5 1.0 Uncertain significance 0 -357945 Simple 749051278 T . Uncertain significance 2 5 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy, ARVC 2016-10-12 -1.5 1.0 Uncertain significance 0 -357947 Simple 751361395 T . Uncertain significance 2 6 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-05-23 -1.7999999999999998 0.8333333333333334 Uncertain significance 0 -357952 Simple 370063434 A . Uncertain significance 2 5 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy, ARVC 2017-06-14 -1.5 0.8 Uncertain significance 0 -357964 Simple 756527780 A . Benign/Likely benign 2 6 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC 2017-07-03 -21.0 0.8333333333333334 Benign/Likely benign 0 -358215 Simple 145006535 G . Uncertain significance 2 2 Congenital disorder of glycosylation;not provided 2017-06-22 -0.6 0.5 Uncertain significance 0 -358232 Simple 200632524 C . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2017-04-20 -0.6 0.5 Uncertain significance 0 -358236 Simple 140692271 T . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2017-04-19 -0.6 0.5 Uncertain significance 0 -358237 Simple 143389605 C . Uncertain significance 2 2 Pontoneocerebellar hypoplasia;not specified 2017-04-28 -0.6 0.5 Uncertain significance 0 -358403 Simple 375118721 C . Uncertain significance 2 2 Lissencephaly 2;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive 2017-02-23 -0.6 1.0 Uncertain significance 0 -358413 Simple 560704715 A . Uncertain significance 2 2 not specified;Lissencephaly, Recessive 2016-12-21 -0.6 1.0 Uncertain significance 0 -358427 Simple 587780434 . . Uncertain significance 2 2 not specified;Lissencephaly, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -358454 Simple 149517266 A . Uncertain significance 2 2 Congenital disorder of glycosylation;not specified 2017-07-12 -0.6 0.5 Uncertain significance 0 -358456 Simple 35581984 A . Benign/Likely benign 2 3 Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2i;not specified 2017-07-30 -14.4 1.0 Benign/Likely benign 0 -358458 Simple 17349904 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -358464 Simple 34087251 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -358473 Simple 2066735 T . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -358479 Simple 73419464 T . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -358480 Simple 55840928 T . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -358684 Simple 886061943 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -358693 Simple 186524917 G . Likely benign 2 2 Renal cell carcinoma, papillary, 1;not specified 2017-11-02 -6.0 0.5 Likely benign 0 -358806 Simple 144792551 A . Uncertain significance 2 3 not specified;Maturity-onset diabetes of the young;Monogenic diabetes 2017-01-03 -0.87 1.3333333333333333 Uncertain significance 0 -358819 Simple 17151919 A . Benign/Likely benign 2 3 Leptin deficiency or dysfunction;Monogenic Non-Syndromic Obesity;Monogenic diabetes 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -358878 Simple 144659635 C . Uncertain significance 2 3 Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Dominant 2017-08-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -358942 Simple 143303575 C . Uncertain significance 2 2 Joubert syndrome;not specified 2017-02-20 -0.6 1.0 Uncertain significance 0 -359088 Simple 34904831 T . Benign 2 2 Myotonia congenita;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -359089 Simple 115379077 A . Benign/Likely benign 2 4 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-06-06 -18.0 0.75 Benign/Likely benign 0 -359094 Simple 6962852 T . Benign 2 2 Myotonia congenita;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -359095 Simple 756353660 A . Uncertain significance 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita 2016-12-01 -0.6 1.0 Uncertain significance 0 -359096 Simple 145517198 G . Benign/Likely benign 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -359097 Simple 745674068 C . Likely benign 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita 2017-04-22 -6.0 0.5 Likely benign 0 -359098 Simple 200263856 G . Likely benign 2 2 Myotonia congenita;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -359099 Simple 56307536 T . Benign/Likely benign 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -359101 Simple 111482384 G . Benign/Likely benign 2 3 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-08-09 -15.0 0.6666666666666666 Benign/Likely benign 0 -359103 Simple 144109732 T . Benign/Likely benign 2 4 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-04-26 -18.0 0.75 Benign/Likely benign 0 -359104 Simple 147317366 A . Benign/Likely benign 2 3 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-06-14 -15.0 0.6666666666666666 Benign/Likely benign 0 -359106 Simple 141521078 A . Benign/Likely benign 2 3 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-10-17 -12.0 0.3333333333333333 Benign/Likely benign 0 -359109 Simple 41276054 A . Benign/Likely benign 2 3 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-08-03 -14.4 1.0 Benign/Likely benign 0 -359111 Simple 2272252 T . Benign 2 3 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-04-28 -17.4 1.0 Benign/Likely benign 1 -359113 Simple 41276057 T . Benign/Likely benign 2 3 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-08-03 -14.4 1.0 Benign/Likely benign 0 -359117 Simple 73726622 C . Benign/Likely benign 2 3 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-06-09 -15.0 0.6666666666666666 Benign/Likely benign 0 -359119 Simple 13438232 T . Benign 2 2 Myotonia congenita;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -359120 Simple 139757692 T . Benign/Likely benign 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita 2017-03-26 -9.0 0.5 Benign/Likely benign 0 -359122 Simple 78085922 A . Benign/Likely benign 2 3 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified 2017-08-03 -14.4 1.0 Benign/Likely benign 0 -359127 Simple 777708543 T . Uncertain significance 2 2 Myotonia congenita;not specified 2016-11-15 -0.6 1.0 Uncertain significance 0 -359128 Simple 143082508 T . Likely benign 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita 2017-07-26 -6.0 0.5 Likely benign 0 -359131 Simple 77802098 C . Benign/Likely benign 2 2 not specified;Premature ovarian failure 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -359142 Simple 112190116 T . Likely benign 2 2 not specified;Premature ovarian failure 2017-09-12 -6.0 0.5 Likely benign 0 -359159 Simple 138463368 G . Benign/Likely benign 2 2 not specified;Premature ovarian failure 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -359278 Simple 199654408 C . Benign/Likely benign 2 3 Weaver syndrome;not specified 2017-07-28 -11.7 1.0 Benign/Likely benign 0 -359283 Simple 148843424 G . Likely benign 2 2 Weaver syndrome;not specified 2016-06-14 -5.7 1.5 Likely benign 0 -359286 Simple 61732845 G . Benign/Likely benign 2 2 Weaver syndrome 2017-04-17 -9.0 0.5 Benign/Likely benign 0 -359583 Simple 753402341 T . Uncertain significance 2 2 not provided;Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-07-31 -0.6 1.0 Uncertain significance 0 -359596 Simple 201793112 T . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-06-14 -0.6 1.0 Uncertain significance 0 -359598 Simple 200454446 T . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-07-28 -0.6 0.5 Uncertain significance 0 -359636 Simple 374351807 T . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-03-17 -0.6 0.5 Uncertain significance 0 -359661 Simple 374033085 A . Uncertain significance 2 2 Primary ciliary dyskinesia 2017-07-12 -0.6 0.5 Uncertain significance 0 -359772 Simple 146591904 G . Uncertain significance 2 2 Hypomyelination and Congenital Cataract;not specified 2017-06-12 -0.6 0.5 Uncertain significance 0 -360002 Simple 369898799 T . Benign/Likely benign 2 4 not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-03-28 -15.0 0.75 Benign/Likely benign 0 -360004 Simple 187937286 T . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2016-06-21 -18.0 1.0 Benign/Likely benign 0 -360009 Simple 778219649 G . Uncertain significance 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-05-01 -1.5 0.8 Uncertain significance 0 -360012 Simple 17159287 A . Benign/Likely benign 2 6 Charcot-Marie-Tooth disease, type 2;not specified;not provided;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-04-05 -23.4 1.0 Benign/Likely benign 0 -360013 Simple 113958280 A . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-06-29 -18.0 0.6 Benign/Likely benign 0 -360015 Simple 3886641 A . Benign/Likely benign 2 5 Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2017-08-04 -20.4 1.0 Benign/Likely benign 0 -360016 Simple 367739730 C . Likely benign 2 4 not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2016-09-30 -12.0 1.0 Benign/Likely benign 1 -360017 Simple 182542046 C . Likely benign 2 4 not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -360223 Simple 145419251 G . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly 2017-07-19 -15.0 0.75 Benign/Likely benign 0 -360226 Simple 149860242 T . Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-12-12 -12.0 1.0 Benign/Likely benign 1 -360229 Simple 145069572 C . Likely benign 2 5 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified;not provided 2017-05-31 -15.0 0.8 Benign/Likely benign 1 -360230 Simple 150907867 A . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -360233 Simple 200965852 A . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -14.4 1.25 Benign/Likely benign 0 -360236 Simple 137939155 T . Benign/Likely benign 2 5 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not provided 2017-04-18 -18.0 0.8 Benign/Likely benign 0 -360255 Simple 74536326 A . Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -11.7 1.25 Benign/Likely benign 1 -360256 Simple 142241970 A . Benign/Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not provided 2016-06-14 -15.0 1.0 Benign/Likely benign 0 -360260 Simple 146458902 T . Likely benign 2 5 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified;not provided 2017-06-19 -14.7 1.0 Benign/Likely benign 1 -360261 Simple 115137047 A . Likely benign 2 4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -360276 Simple 61756062 C . Benign/Likely benign 2 3 Glycogen storage disease type X;not specified 2017-07-14 -14.4 1.0 Benign/Likely benign 0 -360277 Simple 112828964 T . Benign/Likely benign 2 2 Glycogen storage disease type X;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -360301 Simple 758495950 T . Benign/Likely benign 2 5 Permanent neonatal diabetes mellitus;not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Transient Neonatal Diabetes, Recessive 2017-02-03 -18.0 1.0 Benign/Likely benign 0 -360306 Simple 200490093 T . Uncertain significance 2 3 Spastic paraplegia 48, autosomal recessive;not specified;Spastic Paraplegia, Recessive 2016-10-27 -0.8999999999999999 1.0 Uncertain significance 0 -360311 Simple 759729051 A . Uncertain significance 2 2 Spastic paraplegia 48, autosomal recessive;Spastic Paraplegia, Recessive 2016-07-15 -0.6 1.0 Uncertain significance 0 -360312 Simple 73305371 G . Benign/Likely benign 2 2 Spastic paraplegia 48, autosomal recessive;Spastic Paraplegia, Recessive 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -360326 Simple 566333309 T . Uncertain significance 2 2 Spastic paraplegia 48, autosomal recessive;Spastic Paraplegia, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -360329 Simple 111358719 T . Benign/Likely benign 2 2 Spastic paraplegia 48, autosomal recessive;Spastic Paraplegia, Recessive 2017-03-14 -9.0 0.5 Benign/Likely benign 0 -360341 Simple 73305392 T . Benign/Likely benign 2 2 Spastic paraplegia 48, autosomal recessive;Spastic Paraplegia, Recessive 2017-04-18 -9.0 0.5 Benign/Likely benign 0 -360343 Simple 61750324 T . Uncertain significance 2 4 Spastic paraplegia 48, autosomal recessive;not specified;Spastic Paraplegia, Recessive 2017-04-18 -1.2 0.75 Uncertain significance 0 -360432 Simple 4490786 T . Benign 2 2 Deficiency of aromatic-L-amino-acid decarboxylase;not specified 2016-10-04 -12.0 1.0 Benign/Likely benign 1 -360461 Simple 17290169 T . Benign/Likely benign 2 2 Lung cancer;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -360541 Simple 886062399 A . Uncertain significance 2 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2017-04-20 -0.6 0.5 Uncertain significance 0 -360542 Simple 886062400 T . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-11 -1.14 1.25 Uncertain significance 0 -360544 Simple 764334813 C . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-23 -0.8999999999999999 1.0 Uncertain significance 0 -360569 Simple 368264870 A . Uncertain significance 2 2 Argininosuccinate lyase deficiency 2017-06-15 -0.6 0.5 Uncertain significance 0 -360587 Simple 781725855 A . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2016-11-22 -0.6 1.0 Uncertain significance 0 -360635 Simple 140411170 C . Benign/Likely benign 2 3 Supravalvar aortic stenosis;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2017-07-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -360637 Simple 61734587 G . Likely benign 2 3 not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2016-10-28 -9.0 1.0 Benign/Likely benign 1 -360638 Simple 368610108 A . Likely benign 2 3 Supravalvar aortic stenosis;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -360654 Simple 139335797 A . Uncertain significance 2 3 not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2016-12-12 -0.8999999999999999 1.0 Uncertain significance 0 -360656 Simple 41523046 A . Likely benign 2 3 not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant 2017-03-16 -9.0 0.6666666666666666 Benign/Likely benign 1 -360804 Simple 8187785 G . Benign/Likely benign 2 3 Progressive intrahepatic cholestasis;not specified;Familial Intrahepatic Cholestasis 2016-07-13 -12.0 1.0 Benign/Likely benign 0 -360836 Simple 147841245 G . Uncertain significance 2 4 Long QT syndrome;Romano-Ward syndrome;not specified 2017-05-26 -1.2 0.75 Uncertain significance 0 -360850 Simple 138739292 A . Benign/Likely benign 2 3 Long QT syndrome;Romano-Ward syndrome 2017-07-19 -12.0 0.6666666666666666 Benign/Likely benign 0 -360853 Simple 143306820 T . Uncertain significance 2 3 Long QT syndrome;Romano-Ward syndrome 2016-12-21 -0.8999999999999999 1.0 Uncertain significance 0 -360888 Simple 373763254 TT . Benign/Likely benign 2 3 Angiokeratoma corporis diffusum with arteriovenous fistulas;Cerebral cavernous malformation 2017-06-26 -12.0 0.6666666666666666 Benign/Likely benign 0 -360944 Simple 139528613 A . Benign/Likely benign 2 5 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, procollagen proteinase deficient;Osteogenesis imperfecta type I;not specified;Osteogenesis Imperfecta, Dominant 2017-06-01 -24.0 0.6 Benign 1 -360958 Simple 1800238 T . Benign 2 4 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2017-07-28 -24.0 0.75 Benign 0 -360968 Simple 139851311 A . Likely benign 2 5 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, procollagen proteinase deficient;Osteogenesis imperfecta type I;not specified;not provided;Osteogenesis Imperfecta, Dominant 2017-10-23 -15.0 0.4 Benign/Likely benign 1 -360969 Simple 73428220 A . Likely benign 2 3 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2016-10-13 -9.0 1.0 Benign/Likely benign 1 -360971 Simple 74335369 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, procollagen proteinase deficient;not specified;Osteogenesis Imperfecta, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 0 -360974 Simple 34038163 C . Benign/Likely benign 2 4 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, procollagen proteinase deficient;Osteogenesis imperfecta type I;not specified;Osteogenesis Imperfecta, Dominant 2017-05-17 -15.0 0.75 Benign/Likely benign 0 -360989 Simple 145040065 T . Benign/Likely benign 2 2 Myoclonic dystonia 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -360994 Simple 55853245 G . Likely benign 2 2 Myoclonic dystonia 2017-03-05 -6.0 0.5 Likely benign 0 -361011 Simple 35539807 A . Benign/Likely benign 2 3 Citrullinemia type I;Citrin deficiency 2017-04-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -361013 Simple 79886797 A . Benign/Likely benign 2 3 Citrullinemia type I;Citrin deficiency 2017-04-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -361025 Simple 78247004 T . Benign/Likely benign 2 3 Citrullinemia type I;Citrin deficiency;not specified 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -361036 Simple 201723380 T . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -361047 Simple 149531438 G . Uncertain significance 2 2 Cohen syndrome;not specified 2017-01-09 -0.6 1.0 Uncertain significance 0 -361065 Simple 368362777 T . Uncertain significance 2 2 Cohen syndrome;not specified 2017-06-29 -0.6 0.5 Uncertain significance 0 -361068 Simple 779082817 C . Uncertain significance 2 2 Cohen syndrome;not specified 2017-01-30 -0.6 1.0 Uncertain significance 0 -361089 Simple 761972356 T . Uncertain significance 2 2 Cohen syndrome;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -361095 Simple 757726642 A . Uncertain significance 2 2 Cohen syndrome;not specified 2017-04-14 -0.6 0.5 Uncertain significance 0 -361096 Simple 138565077 T . Uncertain significance 2 2 Cohen syndrome;not provided 2017-05-31 -0.6 0.5 Uncertain significance 0 -361175 Simple 29000285 T . Benign/Likely benign 2 3 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2016-06-14 -11.4 1.3333333333333333 Benign/Likely benign 0 -361179 Simple 200301242 C . Likely benign 2 3 not specified;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome 2017-07-10 -9.0 0.6666666666666666 Benign/Likely benign 1 -361301 Simple 73201156 T . Benign 2 2 Occult macular dystrophy;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -361475 Simple 146083915 G . Benign/Likely benign 2 2 Maturity-onset diabetes of the young;Monogenic diabetes 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -361621 Simple 34094363 G . Benign 2 2 Trichorhinophalangeal syndrome type 3;Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal Syndrome 2017-02-14 -12.0 1.0 Benign/Likely benign 1 -361712 Simple 34569226 C . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -361717 Simple 148936723 T . Benign/Likely benign 2 2 Spastic paraplegia;Spastic Paraplegia, Dominant 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -361721 Simple 3765213 C . Benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -361722 Simple 16900312 C . Benign/Likely benign 2 3 Dandy-Walker like malformation with atrioventricular septal defect;Spastic paraplegia 8;not specified;Spastic Paraplegia, Dominant 2017-04-10 -15.0 0.6666666666666666 Benign/Likely benign 0 -361725 Simple 10429323 C . Benign/Likely benign 2 3 Dandy-Walker like malformation with atrioventricular septal defect;Spastic paraplegia 8;not specified;Spastic Paraplegia, Dominant 2017-04-10 -15.0 0.6666666666666666 Benign/Likely benign 0 -361727 Simple 16900335 T . Benign/Likely benign 2 3 Dandy-Walker like malformation with atrioventricular septal defect;Spastic paraplegia 8;not specified;Spastic Paraplegia, Dominant 2017-04-10 -15.0 0.6666666666666666 Benign/Likely benign 0 -361729 Simple 146320386 T . Benign/Likely benign 2 3 not specified;Spastic paraplegia;Spastic Paraplegia, Dominant 2016-09-12 -12.0 1.0 Benign/Likely benign 0 -361735 Simple 16900368 A . Benign 2 3 Spastic paraplegia 8;not specified;Spastic Paraplegia, Dominant 2017-04-27 -17.4 1.0 Benign/Likely benign 1 -361737 Simple 16900369 A . Benign 2 2 not specified;Spastic Paraplegia, Dominant 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -361879 Simple 115092422 T . Benign/Likely benign 2 4 Benign familial neonatal seizures;not provided;Benign familial neonatal seizures;Benign Neonatal Epilepsy 2017-08-01 -18.0 0.5 Benign/Likely benign 0 -361915 Simple 116062097 C . Uncertain significance 2 2 not specified;Thyroid dyshormonogenesis 2016-11-07 -0.6 1.0 Uncertain significance 0 -361926 Simple 202196940 T . Uncertain significance 2 2 not specified;Thyroid dyshormonogenesis 2017-01-05 -0.6 1.0 Uncertain significance 0 -361945 Simple 375727924 A . Uncertain significance 2 2 not specified;Thyroid dyshormonogenesis 2016-11-07 -0.6 1.0 Uncertain significance 0 -361962 Simple 146498231 T . Uncertain significance 2 2 not specified;Thyroid dyshormonogenesis 2016-11-29 -0.6 1.0 Uncertain significance 0 -362031 Simple 146613168 A . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-02-10 -0.8999999999999999 1.0 Uncertain significance 0 -362033 Simple 2233346 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4 2017-07-21 -14.4 1.0 Benign/Likely benign 0 -362035 Simple 199995009 T . Uncertain significance 2 2 not provided;Charcot-Marie-Tooth, Type 4 2016-11-30 -0.6 1.0 Uncertain significance 0 -362039 Simple 2233322 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -362040 Simple 2233319 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;Charcot-Marie-Tooth, Type 4 2017-07-21 -9.0 0.5 Benign/Likely benign 0 -362061 Simple 373979305 T . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-12-16 -0.6 1.0 Uncertain significance 0 -362064 Simple 111768745 T . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -362065 Simple 376617920 A . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -362086 Simple 752614138 C . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -362094 Simple 147182402 T . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -362146 Simple 5295 G . Benign 2 3 Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia;not specified 2017-08-02 -18.0 0.6666666666666666 Benign/Likely benign 1 -362147 Simple 5316 G . Likely benign 2 3 Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia;not specified 2016-08-29 -9.0 1.0 Benign/Likely benign 1 -362150 Simple 61752769 C . Likely benign 2 3 Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia;not specified 2016-09-29 -9.0 1.0 Benign/Likely benign 1 -362154 Simple 151335623 T . Likely benign 2 3 Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia;not specified 2017-01-12 -9.0 1.0 Benign/Likely benign 1 -362157 Simple 34570566 T . Benign 2 3 Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia;not specified 2017-07-12 -18.0 0.6666666666666666 Benign/Likely benign 1 -362160 Simple 4535 A . Benign 2 3 Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia;not specified 2017-08-02 -18.0 0.6666666666666666 Benign/Likely benign 1 -362162 Simple 34620645 A . Likely benign 2 3 Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia;not specified 2016-08-22 -9.0 1.0 Benign/Likely benign 1 -362192 Simple 4545 T . Benign 2 2 Corticosterone methyloxidase type 2 deficiency;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -362242 Simple 2272662 C . Benign 2 2 Hereditary acrodermatitis enteropathica;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -362247 Simple 7823979 T . Benign/Likely benign 2 2 Hereditary acrodermatitis enteropathica;not provided 2017-01-24 -9.0 1.0 Benign/Likely benign 0 -362260 Simple 17855765 T . Benign 2 2 Hereditary acrodermatitis enteropathica;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -362263 Simple 117535951 A . Likely benign 2 2 Hereditary acrodermatitis enteropathica;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -362265 Simple 2280838 T . Benign 2 2 Hereditary acrodermatitis enteropathica;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -362373 Simple 17636067 T . Benign/Likely benign 2 2 Farber's lipogranulomatosis;not provided 2016-12-30 -9.0 1.0 Benign/Likely benign 0 -362381 Simple 2472205 T . Benign/Likely benign 2 2 Farber's lipogranulomatosis;not specified 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -362475 Simple 201030061 C . Benign/Likely benign 2 3 Atrichia with papular lesions;Alopecia universalis;not specified 2016-11-20 -12.0 1.0 Benign/Likely benign 0 -362507 Simple 117197822 T . Likely benign 2 3 Atrichia with papular lesions;Alopecia universalis;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 1 -362564 Simple 200469074 A . Likely benign 2 3 Idiopathic fibrosing alveolitis, chronic form;not specified;Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -362580 Simple 145284541 A . Uncertain significance 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-11-28 -0.6 1.0 Uncertain significance 0 -362590 Simple 201303856 T . Uncertain significance 2 2 not specified;Osteogenesis Imperfecta, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -362693 Simple 149142237 A . Benign/Likely benign 2 4 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Nocturnal frontal lobe epilepsy 2017-08-18 -15.0 0.5 Benign/Likely benign 0 -362695 Simple 751699392 A . Uncertain significance 2 3 Autosomal dominant nocturnal frontal lobe epilepsy;not specified;Nocturnal frontal lobe epilepsy 2017-04-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -362699 Simple 149934219 A . Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;Nocturnal frontal lobe epilepsy 2017-04-26 -6.0 0.5 Likely benign 0 -362795 Simple 769317785 A . Uncertain significance 2 2 Werner syndrome 2017-06-29 -0.6 0.5 Uncertain significance 0 -362796 Simple 778493200 - . Uncertain significance 2 2 Werner syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -362799 Simple 2230010 A . Benign/Likely benign 2 2 Werner syndrome 2017-08-15 -9.0 0.5 Benign/Likely benign 0 -362800 Simple 750052448 T . Uncertain significance 2 2 Werner syndrome 2016-09-28 -0.6 1.0 Uncertain significance 0 -362802 Simple 762866297 G . Uncertain significance 2 2 Werner syndrome 2017-05-09 -0.6 0.5 Uncertain significance 0 -362804 Simple 886062888 T . Uncertain significance 2 2 Werner syndrome 2016-11-28 -0.6 1.0 Uncertain significance 0 -362805 Simple 180814740 G . Uncertain significance 2 2 Werner syndrome 2017-06-14 -0.6 0.5 Uncertain significance 0 -362809 Simple 747319628 T . Pathogenic/Likely pathogenic 2 2 Werner syndrome 2017-02-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -362893 Simple 56341011 T . Benign/Likely benign 2 6 Hypogonadism with anosmia;Kallmann syndrome 2;Pfeiffer syndrome;Osteoglophonic dysplasia;Craniosynostosis;Nonsyndromic Trigonocephaly 2017-07-30 -21.0 0.8333333333333334 Benign/Likely benign 0 -362901 Simple 17175898 A . Benign/Likely benign 2 6 Hypogonadism with anosmia;Kallmann syndrome 2;Pfeiffer syndrome;Osteoglophonic dysplasia;Craniosynostosis;Nonsyndromic Trigonocephaly 2017-07-20 -21.0 0.8333333333333334 Benign/Likely benign 0 -362904 Simple 17182303 C . Benign/Likely benign 2 6 Hypogonadism with anosmia;Pfeiffer syndrome;Osteoglophonic dysplasia;not specified;Craniosynostosis;Nonsyndromic Trigonocephaly 2016-09-08 -21.0 1.0 Benign/Likely benign 0 -363001 Simple 142542271 A . Uncertain significance 2 2 not provided;Spherocytosis, Dominant 2016-09-30 -0.6 1.0 Uncertain significance 0 -363126 Simple 200209986 T . Benign/Likely benign 2 3 Dystonia 6, torsion;Dystonia;not specified 2017-05-01 -15.0 0.6666666666666666 Benign/Likely benign 0 -363150 Simple 73569592 C . Benign/Likely benign 2 2 Mucopolysaccharidosis, MPS-III-C;Sanfilippo syndrome;Mucopolysaccharidosis Type III;Retinitis pigmentosa 73 2017-06-02 -9.0 0.5 Benign/Likely benign 0 -363238 Simple 762679 A . Benign 2 2 Natural killer cell and glucocorticoid deficiency with DNA repair defect;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -363446 Simple 773039925 T . Uncertain significance 2 3 CHARGE association;Hypogonadism with anosmia 2017-06-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -363459 Simple 767259131 A . Uncertain significance 2 3 CHARGE association;Hypogonadism with anosmia 2016-08-24 -0.8999999999999999 1.0 Uncertain significance 0 -363468 Simple 749861487 G . Uncertain significance 2 3 CHARGE association;Hypogonadism with anosmia;not specified 2016-06-14 -0.8999999999999999 1.0 Uncertain significance 0 -363476 Simple 61733338 A . Benign/Likely benign 2 3 CHARGE association;Hypogonadism with anosmia 2017-02-10 -12.0 1.0 Benign/Likely benign 0 -363481 Simple 761409446 T . Uncertain significance 2 3 CHARGE association;Hypogonadism with anosmia;not specified 2017-04-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -363525 Simple 548329168 A . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2016-06-14 -0.6 1.0 Uncertain significance 0 -363582 Simple 59035258 T . Benign/Likely benign 2 5 not specified;Spastic paraplegia;Congenital Bile Acid Synthesis Defect;Spastic Paraplegia, Recessive 2017-08-03 -24.0 0.6 Benign 1 -363584 Simple 201867790 T . Uncertain significance 2 3 Spastic paraplegia;Congenital Bile Acid Synthesis Defect;Spastic Paraplegia, Recessive 2017-04-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -363605 Simple 143321447 T . Uncertain significance 2 2 Temporal epilepsy, familial;not specified 2017-09-07 -0.6 0.5 Uncertain significance 0 -363606 Simple 140612122 A . Uncertain significance 2 3 Temporal epilepsy, familial;Febrile seizures, familial, 11;not provided 2017-02-14 -0.8999999999999999 1.0 Uncertain significance 0 -363658 Simple 373102227 G . Uncertain significance 2 3 Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not provided 2016-11-30 -0.8999999999999999 1.0 Uncertain significance 0 -363871 Simple 146062161 C . Uncertain significance 2 3 Achromatopsia;not provided;Stargardt Disease, Recessive 2016-09-30 -0.8999999999999999 1.0 Uncertain significance 0 -363913 Simple 886063168 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-04-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -364066 Simple 78579695 A . Benign/Likely benign 2 2 Cataract, autosomal recessive congenital 4;Congenital cataract 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -364071 Simple 41281938 A . Benign/Likely benign 2 2 Cataract, autosomal recessive congenital 4;Congenital cataract 2017-08-15 -9.0 0.5 Benign/Likely benign 0 -364203 Simple 138258236 T . Uncertain significance 2 2 Congenital disorder of glycosylation type 1I;Congenital disorder of glycosylation;Myasthenic syndrome, congenital, 14 2017-01-11 -0.6 1.0 Uncertain significance 0 -364220 Simple 7024375 G . Benign 2 2 Nephronophthisis;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -364552 Simple 145319352 C . Uncertain significance 2 2 Familial dysautonomia;not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -364557 Simple 79596285 A . Benign/Likely benign 2 2 Familial dysautonomia 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -364561 Simple 61749203 T . Uncertain significance 2 2 Familial dysautonomia 2017-07-25 -0.6 0.5 Uncertain significance 0 -364571 Simple 886063347 T . Uncertain significance 2 2 Familial dysautonomia 2016-12-05 -0.6 1.0 Uncertain significance 0 -364576 Simple 139091484 T . Uncertain significance 2 2 Familial dysautonomia 2017-02-10 -0.6 1.0 Uncertain significance 0 -364577 Simple 374814563 A . Uncertain significance 2 2 Familial dysautonomia;not specified 2017-05-18 -0.6 0.5 Uncertain significance 0 -364578 Simple 78135392 G . Uncertain significance 2 2 Familial dysautonomia;not specified 2017-05-09 -0.6 0.5 Uncertain significance 0 -364749 Simple 150994426 C . Uncertain significance 2 2 not specified;Primary Microcephaly, Recessive 2017-05-17 -0.6 0.5 Uncertain significance 0 -364856 Simple 145061390 T . Uncertain significance 2 2 not specified;Oculocutaneous albinism 2016-07-11 -0.6 1.0 Uncertain significance 0 -365014 Simple 75690855 T . Benign/Likely benign 2 3 not specified;Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth, Type 2 2017-07-29 -14.4 1.0 Benign/Likely benign 0 -365024 Simple 59501881 C . Benign/Likely benign 2 3 not specified;Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth, Type 2 2017-07-29 -15.0 0.6666666666666666 Benign/Likely benign 0 -365028 Simple 34426300 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth, Type 2 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -365029 Simple 377190920 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth, Type 2 2017-06-07 -0.6 0.5 Uncertain significance 0 -365088 Simple 368533266 G . Uncertain significance 2 3 Osler hemorrhagic telangiectasia syndrome;Juvenile Polyposis 2017-03-01 -0.8999999999999999 1.0 Uncertain significance 0 -365090 Simple 200306464 A . Benign/Likely benign 2 3 Osler hemorrhagic telangiectasia syndrome;Juvenile Polyposis 2017-04-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -365092 Simple 201463582 A . Benign/Likely benign 2 3 Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis 2016-08-08 -12.0 1.0 Benign/Likely benign 0 -365167 Simple 558154123 T . Benign/Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-01-12 -9.0 1.0 Benign/Likely benign 0 -365175 Simple 150801649 T . Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 -5.7 1.5 Likely benign 0 -365181 Simple 886063510 - . Likely benign 2 2 not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2017-04-20 -6.0 0.5 Likely benign 0 -365199 Simple 116439010 C . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -365234 Simple 200493208 G . Benign/Likely benign 2 2 Dystonia 1;Dystonia 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -365235 Simple 769210407 G . Uncertain significance 2 2 Dystonia 1;not provided 2017-06-30 -0.6 0.5 Uncertain significance 0 -365344 Simple 113071480 G . Benign/Likely benign 2 3 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-07-20 -12.0 0.6666666666666666 Benign/Likely benign 0 -365353 Simple 147018359 A . Uncertain significance 2 3 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-03-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -365361 Simple 886063555 C . Uncertain significance 2 3 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2016-09-08 -0.8999999999999999 1.0 Uncertain significance 0 -365367 Simple 36024203 T . Benign/Likely benign 2 4 not specified;not provided;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-06-14 -15.0 0.5 Benign/Likely benign 0 -365372 Simple 200614765 A . Uncertain significance 2 3 not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia 2017-02-01 -0.8999999999999999 1.0 Uncertain significance 0 -365516 Simple 368309229 G . Uncertain significance 2 3 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome 2017-05-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -365517 Simple 886063623 A . Uncertain significance 2 3 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome 2017-02-17 -0.8999999999999999 1.0 Uncertain significance 0 -365518 Simple 200820603 T . Benign/Likely benign 2 3 Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome 2017-06-05 -12.0 0.6666666666666666 Benign/Likely benign 0 -365530 Simple 147993882 G . Uncertain significance 2 2 Leigh syndrome;not specified 2017-05-05 -0.6 0.5 Uncertain significance 0 -365555 Simple 78977446 T . Likely benign 2 2 Upshaw-Schulman syndrome 2016-08-16 -6.0 1.0 Likely benign 0 -365655 Simple 199926239 A . Uncertain significance 2 2 Dopamine beta hydroxylase deficiency;not provided 2017-02-09 -0.6 1.0 Uncertain significance 0 -365707 Simple 769115550 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2017-01-12 -0.6 1.0 Uncertain significance 0 -365717 Simple 148146480 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A 2017-03-07 -0.6 0.5 Uncertain significance 0 -365724 Simple 370937109 C . Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-11-22 -6.0 1.0 Likely benign 0 -365728 Simple 201875250 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2017-07-20 -0.6 0.5 Uncertain significance 0 -365731 Simple 149212775 C . Likely benign 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-12-13 -6.0 1.0 Likely benign 0 -365733 Simple 776748227 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 7A;not specified 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -365838 Simple 3124993 G . Benign/Likely benign 2 2 Candidiasis, familial, 2;Familial Candidiasis, Recessive 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -365843 Simple 115057256 T . Benign/Likely benign 2 2 Candidiasis, familial, 2;Familial Candidiasis, Recessive 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -365848 Simple 59902911 T . Benign/Likely benign 2 2 Candidiasis, familial, 2;Familial Candidiasis, Recessive 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -365853 Simple 115131813 T . Benign 2 2 Candidiasis, familial, 2;Familial Candidiasis, Recessive 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -365857 Simple 10781499 A . Benign 2 2 not specified;Familial Candidiasis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -365858 Simple 4077515 T . Benign 2 2 not specified;Familial Candidiasis, Recessive 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -365930 Simple 746809573 A . Uncertain significance 2 2 Berardinelli-Seip congenital lipodystrophy;not specified 2016-06-21 -0.6 1.0 Uncertain significance 0 -365967 Simple 144672735 G . Uncertain significance 2 2 not specified;Intellectual Disability, Recessive 2016-08-12 -0.6 1.0 Uncertain significance 0 -365990 Simple 371344592 A . Uncertain significance 2 2 Chromosome 9q deletion syndrome;not specified 2017-03-22 -0.6 0.5 Uncertain significance 0 -365992 Simple 142887098 A . Benign/Likely benign 2 3 Chromosome 9q deletion syndrome;not specified 2017-06-23 -15.0 0.3333333333333333 Benign/Likely benign 0 -365995 Simple 200982880 T . Uncertain significance 2 2 Chromosome 9q deletion syndrome 2017-03-28 -0.6 0.5 Uncertain significance 0 -365996 Simple 151008340 A . Likely benign 2 2 Chromosome 9q deletion syndrome 2017-03-28 -6.0 0.5 Likely benign 0 -366006 Simple 73669157 T . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome 2017-07-13 -9.0 0.5 Benign/Likely benign 0 -366032 Simple 375271697 T . Likely benign 2 2 Chromosome 9q deletion syndrome 2017-05-15 -6.0 0.5 Likely benign 0 -366033 Simple 371136319 T . Likely benign 2 2 Chromosome 9q deletion syndrome 2017-06-20 -6.0 0.5 Likely benign 0 -366324 Simple 61736899 A . Benign/Likely benign 2 2 Nicolaides-Baraitser syndrome;not specified 2017-04-13 -9.0 0.5 Benign/Likely benign 0 -366359 Simple 754340855 A . Uncertain significance 2 2 not specified;Cerebellar hypoplasia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -366372 Simple 754226022 T . Uncertain significance 2 2 not provided;Cerebellar hypoplasia 2017-01-31 -0.6 1.0 Uncertain significance 0 -366374 Simple 116082439 C . Uncertain significance 2 2 not specified;Cerebellar hypoplasia 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -366395 Simple 35969327 C . Benign 2 2 Multiple Cutaneous and Mucosal Venous Malformations;not specified 2016-10-12 -12.0 1.0 Benign/Likely benign 1 -366414 Simple 41272241 T . Benign/Likely benign 2 2 Multiple Cutaneous and Mucosal Venous Malformations;not specified 2016-09-16 -9.0 1.0 Benign/Likely benign 0 -366425 Simple 1334811 A . Benign 2 2 Multiple Cutaneous and Mucosal Venous Malformations;not specified 2016-07-27 -12.0 1.0 Benign/Likely benign 1 -366450 Simple 2273719 A . Benign 2 2 Multiple Cutaneous and Mucosal Venous Malformations;not specified 2016-10-11 -12.0 1.0 Benign/Likely benign 1 -366540 Simple 149918318 A . Uncertain significance 2 2 not specified;Hyper-IgE syndrome 2016-12-15 -0.6 1.0 Uncertain significance 0 -366541 Simple 146490788 T . Uncertain significance 2 2 not specified;Hyper-IgE syndrome 2017-04-28 -0.6 0.5 Uncertain significance 0 -366593 Simple 1981011 C . Benign/Likely benign 2 3 not specified;Ataxia with Oculomotor Apraxia;Coenzyme Q10 deficiency, Oculomotor Apraxia Type 2017-10-26 -15.0 0.6666666666666666 Benign/Likely benign 0 -366661 Simple 73472943 A . Benign/Likely benign 2 2 Congenital disorder of glycosylation;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -366691 Simple 756877115 G . Uncertain significance 2 2 Primary ciliary dyskinesia 2016-06-14 -0.6 1.0 Uncertain significance 0 -366718 Simple 61752947 A . Benign/Likely benign 2 3 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-08-04 -12.0 0.6666666666666666 Benign/Likely benign 0 -366719 Simple 34097935 A . Benign/Likely benign 2 3 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-07-24 -12.0 0.6666666666666666 Benign/Likely benign 0 -366721 Simple 114256093 G . Benign/Likely benign 2 3 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant 2017-07-19 -12.0 0.6666666666666666 Benign/Likely benign 0 -366759 Simple 147098410 T . Uncertain significance 2 2 not specified;Hyperphosphatasia with Intellectual Disability Syndrome 2017-01-23 -0.6 1.0 Uncertain significance 0 -366761 Simple 138028827 C . Uncertain significance 2 2 Hyperphosphatasia with mental retardation syndrome 2;Hyperphosphatasia with Intellectual Disability Syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -366769 Simple 886063905 T . Benign/Likely benign 2 5 Arthrogryposis multiplex congenita distal type 1;Arthrogryposis multiplex congenita;not specified;Nemaline Myopathy, Dominant 2017-08-09 -24.0 0.6 Benign 1 -366771 Simple 372751531 T . Uncertain significance 2 3 Arthrogryposis multiplex congenita;not specified;Nemaline Myopathy, Dominant 2016-08-09 -0.8999999999999999 1.0 Uncertain significance 0 -366880 Simple 115431773 G . Benign/Likely benign 2 2 Pontoneocerebellar hypoplasia;not specified 2016-10-03 -9.0 1.0 Benign/Likely benign 0 -366927 Simple 116523732 T . Benign/Likely benign 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Hyper-IgE syndrome 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -366965 Simple 140148619 G . Uncertain significance 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Hyper-IgE syndrome 2017-06-05 -0.6 0.5 Uncertain significance 0 -366971 Simple 375864618 - . Likely benign 2 2 not specified;Hyper-IgE syndrome 2017-07-11 -6.0 0.5 Likely benign 0 -366974 Simple 138810908 C . Uncertain significance 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Hyper-IgE syndrome 2017-07-25 -0.6 0.5 Uncertain significance 0 -366984 Simple 76342955 A . Likely benign 2 2 Diabetes mellitus, neonatal, with congenital hypothyroidism;Monogenic diabetes 2016-07-22 -6.0 1.0 Likely benign 0 -366987 Simple 146238548 A . Uncertain significance 2 2 Diabetes mellitus, neonatal, with congenital hypothyroidism;not specified 2016-11-07 -0.6 1.0 Uncertain significance 0 -366990 Simple 143051164 C . Uncertain significance 2 2 Diabetes mellitus, neonatal, with congenital hypothyroidism;Monogenic diabetes 2016-06-14 -0.5700000000000001 1.5 Uncertain significance 0 -367023 Simple 117109271 G . Uncertain significance 2 2 not specified;Hyper-IgE syndrome 2017-03-16 -0.6 0.5 Uncertain significance 0 -367025 Simple 201776049 T . Uncertain significance 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Hyper-IgE syndrome 2017-06-21 -0.6 0.5 Uncertain significance 0 -367122 Simple 2230722 T . Benign 2 2 Budd-Chiari syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -367129 Simple 2230724 A . Benign 2 2 Budd-Chiari syndrome;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -367181 Simple 143119940 A . Benign/Likely benign 2 3 Non-ketotic hyperglycinemia;not provided 2017-09-06 -12.0 0.3333333333333333 Benign/Likely benign 0 -367185 Simple 74461075 A . Benign/Likely benign 2 2 Non-ketotic hyperglycinemia 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -367193 Simple 73400312 C . Benign/Likely benign 2 2 Non-ketotic hyperglycinemia 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -367200 Simple 28617412 T . Benign/Likely benign 2 3 Non-ketotic hyperglycinemia;not specified 2017-07-31 -15.0 0.3333333333333333 Benign/Likely benign 0 -367201 Simple 12004164 G . Benign/Likely benign 2 3 Non-ketotic hyperglycinemia;not specified 2017-07-31 -15.0 0.3333333333333333 Benign/Likely benign 0 -367202 Simple 2228095 A . Benign 2 3 Non-ketotic hyperglycinemia;not specified 2017-08-01 -18.0 0.3333333333333333 Benign/Likely benign 1 -367208 Simple 535143891 A . Benign/Likely benign 2 2 Non-ketotic hyperglycinemia 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -367346 Simple 41307461 G . Uncertain significance 2 2 Choreoacanthocytosis;not specified 2016-08-22 -0.6 1.0 Uncertain significance 0 -367364 Simple 117320408 A . Uncertain significance 2 2 Choreoacanthocytosis;not specified 2017-03-07 -0.6 0.5 Uncertain significance 0 -367395 Simple 149694033 T . Uncertain significance 2 3 Choreoacanthocytosis;not specified 2017-09-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -367408 Simple 200107412 T . Uncertain significance 2 2 Choreoacanthocytosis;not provided 2017-06-30 -0.6 0.5 Uncertain significance 0 -367543 Simple 7863487 A . Benign/Likely benign 2 3 Neuropathy hereditary sensory and autonomic type 1;not specified 2017-08-02 -14.4 1.0 Benign/Likely benign 0 -367544 Simple 200704785 A . Benign/Likely benign 2 3 Neuropathy hereditary sensory and autonomic type 1;not specified 2017-07-10 -11.7 1.0 Benign/Likely benign 0 -367548 Simple 114380004 A . Benign/Likely benign 2 3 Neuropathy hereditary sensory and autonomic type 1;not specified 2017-04-19 -12.0 0.6666666666666666 Benign/Likely benign 0 -367550 Simple 45461899 A . Benign/Likely benign 2 2 Neuropathy hereditary sensory and autonomic type 1 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -367551 Simple 141265918 A . Benign/Likely benign 2 3 Neuropathy hereditary sensory and autonomic type 1;not specified 2017-08-04 -12.0 0.3333333333333333 Benign/Likely benign 0 -367609 Simple 201379302 C . Uncertain significance 2 2 Fanconi anemia;not specified 2017-05-03 -0.6 0.5 Uncertain significance 0 -367611 Simple 549658720 G . Uncertain significance 2 2 Fanconi anemia;not specified 2016-10-12 -0.6 1.0 Uncertain significance 0 -367664 Simple 556901417 A . Uncertain significance 2 3 Gorlin syndrome;Holoprosencephaly 2017-07-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -367675 Simple 144323077 T . Uncertain significance 2 3 Gorlin syndrome;Holoprosencephaly 2017-06-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -367695 Simple 5991926 G . Benign 2 3 X-linked agammaglobulinemia;X-linked agammaglobulinemia with growth hormone deficiency;Isolated Growth Hormone Deficiency 2017-06-21 -18.0 0.6666666666666666 Benign/Likely benign 1 -367714 Simple 146801179 G . Likely benign 2 3 Non-syndromic X-linked intellectual disability;not specified;not provided 2017-03-31 -9.0 0.6666666666666666 Benign/Likely benign 1 -367732 Simple 185511642 G . Benign/Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -367796 Simple 28382740 G . Benign 2 2 not specified;Lymphoproliferative syndrome 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -367871 Simple 72610640 A . Likely benign 2 2 not specified;Lymphoproliferative syndrome 2016-06-14 -5.7 1.5 Likely benign 0 -367872 Simple 72610640 T . Benign/Likely benign 2 2 not provided;Lymphoproliferative syndrome 2017-01-24 -9.0 1.0 Benign/Likely benign 0 -367890 Simple 191297808 A . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -367947 Simple 140322310 G . Likely benign 2 2 Non-syndromic X-linked intellectual disability;not provided 2017-08-02 -6.0 0.5 Likely benign 0 -367999 Simple 6049 G . Benign 2 2 Hereditary factor IX deficiency disease;Thrombophilia, X-linked, due to factor IX defect;Hemophilia B, Factor IX Deficiency 2017-05-23 -12.0 0.5 Benign/Likely benign 1 -368002 Simple 112057482 G . Benign/Likely benign 2 2 Hereditary factor IX deficiency disease;Thrombophilia, X-linked, due to factor IX defect;Hemophilia B, Factor IX Deficiency 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -368004 Simple 4149751 C . Benign/Likely benign 2 2 Hereditary factor IX deficiency disease;Thrombophilia, X-linked, due to factor IX defect;Hemophilia B, Factor IX Deficiency 2017-02-02 -9.0 1.0 Benign/Likely benign 0 -368024 Simple 199510538 A . Benign/Likely benign 2 4 Fanconi anemia;VACTERL association with hydrocephalus;not specified;Fanconi Anemia, X-Linked 2017-06-16 -15.0 0.75 Benign/Likely benign 0 -368030 Simple 754552650 G . Benign/Likely benign 2 3 Fanconi anemia;VACTERL association with hydrocephalus;Fanconi Anemia, X-Linked 2017-06-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -368032 Simple 147260208 C . Benign/Likely benign 2 3 Fanconi anemia;VACTERL association with hydrocephalus;Fanconi Anemia, X-Linked 2017-08-14 -12.0 0.6666666666666666 Benign/Likely benign 0 -368044 Simple 183021839 C . Likely benign 2 2 Adrenoleukodystrophy 2017-07-26 -6.0 0.5 Likely benign 0 -368045 Simple 200660869 T . Benign/Likely benign 2 2 Adrenoleukodystrophy 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -368046 Simple 147595334 T . Benign/Likely benign 2 2 Adrenoleukodystrophy;not specified 2016-12-02 -9.0 1.0 Benign/Likely benign 0 -368088 Simple 201046790 A . Benign/Likely benign 2 5 3-Methylglutaconic aciduria type 2;Endocardial fibroelastosis;Dilated cardiomyopathy 3B;Left ventricular noncompaction cardiomyopathy 2017-08-11 -18.0 0.8 Benign/Likely benign 0 -368114 Simple 5986887 A . Benign/Likely benign 2 2 not specified;Hemophilia A, FVIII Deficiency 2017-03-06 -9.0 0.5 Benign/Likely benign 0 -368124 Simple 1800289 T . Benign/Likely benign 2 2 not specified;Hemophilia A, FVIII Deficiency 2017-03-06 -9.0 0.5 Benign/Likely benign 0 -368152 Simple 199907508 T . Likely benign 2 2 not provided;Nonsyndromic Hearing Loss, X-Linked 2017-09-18 -6.0 0.5 Likely benign 0 -368161 Simple 140231382 G . Benign/Likely benign 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not specified 2016-12-12 -9.0 1.0 Benign/Likely benign 0 -368162 Simple 137961493 A . Benign/Likely benign 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not specified 2016-12-12 -9.0 1.0 Benign/Likely benign 0 -368167 Simple 151234075 G . Benign/Likely benign 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not specified 2016-06-14 -8.4 1.5 Benign/Likely benign 0 -368189 Simple 148060509 T . Benign/Likely benign 2 2 Non-syndromic X-linked intellectual disability;not specified 2016-09-30 -9.0 1.0 Benign/Likely benign 0 -368240 Simple 780118536 C . Uncertain significance 2 2 Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-04-11 -0.6 0.5 Uncertain significance 0 -368244 Simple 1057515873 G . Uncertain significance 2 2 Duchenne muscular dystrophy;Dilated cardiomyopathy 3B 2017-08-04 -0.6 0.5 Uncertain significance 0 -368260 Simple 36005267 C . Benign/Likely benign 2 3 Ornithine carbamoyltransferase deficiency;not specified 2017-08-21 -15.0 0.6666666666666666 Benign/Likely benign 0 -368331 Simple 4239964 G . Benign 2 2 Arthrogryposis multiplex congenita, distal, X-linked;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -368333 Simple 143935711 T . Benign/Likely benign 2 3 Arthrogryposis multiplex congenita, distal, X-linked;not specified 2017-09-07 -12.0 0.3333333333333333 Benign/Likely benign 0 -368334 Simple 369843264 T . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita, distal, X-linked 2017-06-01 -9.0 0.5 Benign/Likely benign 0 -368335 Simple 147825775 T . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita, distal, X-linked 2017-07-05 -9.0 0.5 Benign/Likely benign 0 -368336 Simple 2070169 A . Benign 2 2 Arthrogryposis multiplex congenita, distal, X-linked;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -368339 Simple 150574055 G . Benign 2 2 Arthrogryposis multiplex congenita, distal, X-linked 2017-07-20 -12.0 0.5 Benign/Likely benign 1 -368340 Simple 5953010 C . Benign 2 2 Arthrogryposis multiplex congenita, distal, X-linked;not specified 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -368342 Simple 2230147 A . Benign 2 3 Arthrogryposis multiplex congenita, distal, X-linked;not specified 2017-08-02 -17.4 1.0 Benign/Likely benign 1 -368344 Simple 2228658 T . Benign/Likely benign 2 2 Arthrogryposis multiplex congenita, distal, X-linked;not specified 2017-01-06 -9.0 1.0 Benign/Likely benign 0 -368486 Simple 34173954 T . Benign 2 2 not specified;Dent Disease 2016-06-14 -11.4 1.5 Benign/Likely benign 1 -368624 Simple 201344743 A . Likely benign 2 2 not specified;Charcot-Marie-Tooth, X-linked 2016-11-23 -6.0 1.0 Likely benign 0 -368643 Simple 201573707 C . Benign/Likely benign 2 2 Glycogen phosphorylase kinase deficiency;not specified 2016-06-14 -9.0 1.0 Benign/Likely benign 0 -368648 Simple 141251024 T . Likely benign 2 2 Glycogen phosphorylase kinase deficiency;not specified 2016-10-11 -6.0 1.0 Likely benign 0 -368650 Simple 181490917 C . Likely benign 2 2 Glycogen phosphorylase kinase deficiency;not specified 2016-06-14 -6.0 1.0 Likely benign 0 -368656 Simple 151288786 T . Likely benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2017-07-03 -6.0 0.5 Likely benign 0 -368658 Simple 148980611 C . Benign 2 2 not specified;Sideroblastic Anemia and Ataxia 2017-01-01 -12.0 1.0 Benign/Likely benign 1 -368838 Simple 115782155 C . Benign 2 2 Pheochromocytoma;not specified 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -369076 Simple 1800839 T . Benign/Likely benign 2 3 Alzheimer disease, type 3;Frontotemporal dementia;Pick's disease;Early-Onset Familial Alzheimer Disease;Acne inversa, familial, 3;Dilated Cardiomyopathy, Dominant 2017-07-31 -12.0 0.6666666666666666 Benign/Likely benign 0 -369101 Simple 147238110 - . Benign 2 2 Pyogenic arthritis, pyoderma gangrenosum and acne;not specified 2016-12-14 -12.0 1.0 Benign/Likely benign 1 -369281 Simple 142265031 A . Likely benign 2 3 Hyperferritinemia cataract syndrome;Neuroferritinopathy;not specified 2016-10-18 -9.0 1.0 Benign/Likely benign 1 -369285 Simple 146698792 T . Benign/Likely benign 2 3 Hyperferritinemia cataract syndrome;Neuroferritinopathy;not specified 2016-11-14 -12.0 1.0 Benign/Likely benign 0 -369295 Simple 114601492 T . Benign/Likely benign 2 5 Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2017-07-06 -18.0 0.8 Benign/Likely benign 0 -369575 Simple 3213673 A . Benign 2 4 Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;Leigh syndrome;not specified 2016-06-14 -23.4 1.25 Benign/Likely benign 1 -369664 Simple 138890576 G . Likely pathogenic 2 2 Ciliary dyskinesia, primary, 3;Primary ciliary dyskinesia 2017-02-16 5.4 2.0 Likely pathogenic 0 -369672 Simple 775835429 TCTC . Pathogenic 2 2 Basal ganglia disease, biotin-responsive 2016-02-13 10.2 2.5 Pathogenic/Likely pathogenic 1 -369724 Simple 202131052 A . Pathogenic 2 3 Galactosylceramide beta-galactosidase deficiency;not provided 2017-09-06 17.4 0.6666666666666666 Pathogenic 0 -369768 Simple 1057516098 T . Pathogenic 2 2 Early infantile epileptic encephalopathy 7;not provided;Early infantile epileptic encephalopathy 2017-11-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -369848 Simple 879254791 C . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2017-03-30 . 0.0 . 0 -369849 Simple 1057516127 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -369851 Simple 879254522 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 8.7 1.0 Pathogenic/Likely pathogenic 0 -369852 Simple 879254788 A . Likely pathogenic 2 1 Familial hypercholesterolemia 2016-11-05 . 1.0 . 0 -369853 Simple 879254847 G . Likely pathogenic 2 1 Familial hypercholesterolemia 2017-03-30 . 0.0 . 0 -369858 Simple 879254397 A . Likely pathogenic 2 1 Familial hypercholesterolemia 2016-12-16 . 1.0 . 0 -369863 Simple 751122998 - . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2016-10-09 . 1.0 . 0 -369869 Simple 1057516131 - . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia;not provided 2016-08-05 . 1.0 . 0 -369872 Simple 1057516134 - . Pathogenic/Likely pathogenic 2 1 Familial hypercholesterolemia 2016-03-01 . 2.0 . 0 -369882 Simple 61742331 C . Uncertain significance 2 1 Familial hypercholesterolemia 2016-03-01 . 2.0 . 0 -369919 Simple 1057516168 C . Pathogenic 2 2 Blepharophimosis, ptosis, and epicanthus inversus;not provided 2017-07-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -370035 Simple 730881014 T . Pathogenic 2 2 not provided;Noonan syndrome 8 2017-08-14 12.0 0.5 Pathogenic/Likely pathogenic 1 -370079 Simple 1057516217 C . Pathogenic/Likely pathogenic 2 2 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided 2017-01-25 8.7 1.5 Pathogenic/Likely pathogenic 0 -370105 Simple 766453711 - . Pathogenic/Likely pathogenic 2 2 Homocystinuria due to CBS deficiency 2016-07-05 8.7 1.5 Pathogenic/Likely pathogenic 0 -370107 Simple 1057516238 T . Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-21 8.7 1.0 Pathogenic/Likely pathogenic 1 -370111 Simple 1057516241 - . Pathogenic/Likely pathogenic 2 2 Junctional epidermolysis bullosa gravis of Herlitz;not provided 2016-04-08 8.7 1.5 Pathogenic/Likely pathogenic 0 -370130 Simple 377544304 A . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II;not provided 2017-07-10 8.7 1.0 Pathogenic/Likely pathogenic 0 -370136 Simple 1057516261 - . Likely pathogenic 2 2 Bloom syndrome 2017-06-14 5.7 1.0 Likely pathogenic 0 -370165 Simple 1057516282 GG . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-24 8.7 1.0 Pathogenic/Likely pathogenic 0 -370175 Simple 1057516291 T . Pathogenic/Likely pathogenic 2 3 Fanconi anemia;Fanconi anemia, complementation group C;Hereditary cancer-predisposing syndrome 2017-07-19 14.7 1.0 Pathogenic/Likely pathogenic 0 -370247 Simple 1057516346 T . Pathogenic/Likely pathogenic 2 2 GRACILE syndrome;not provided 2017-08-14 8.7 1.0 Pathogenic/Likely pathogenic 0 -370274 Simple 760538465 T . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease;not provided 2017-12-22 8.7 1.0 Pathogenic/Likely pathogenic 0 -370324 Simple 397508709 AGAG . Pathogenic 3 2 Cystic fibrosis 2017-03-17 9.3 1.0 Pathogenic/Likely pathogenic 1 -370328 Simple 1057516403 - . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease, type A;not provided 2016-01-19 8.100000000000001 2.0 Likely pathogenic 1 -370365 Simple 191905539 A . Pathogenic/Likely pathogenic 2 2 Non-ketotic hyperglycinemia 2017-07-11 9.0 0.5 Pathogenic/Likely pathogenic 0 -370392 Simple 1057516453 T . Pathogenic/Likely pathogenic 2 2 Galactosylceramide beta-galactosidase deficiency;not provided 2017-06-15 8.7 1.0 Pathogenic/Likely pathogenic 0 -370435 Simple 1057516486 - . Pathogenic/Likely pathogenic 2 2 Junctional epidermolysis bullosa gravis of Herlitz;not provided 2016-02-09 8.100000000000001 2.0 Likely pathogenic 1 -370496 Simple 1057516533 - . Pathogenic/Likely pathogenic 2 2 Bardet-Biedl syndrome 2016-12-15 8.7 1.5 Pathogenic/Likely pathogenic 0 -370503 Simple 1057516539 T . Pathogenic/Likely pathogenic 2 2 Junctional epidermolysis bullosa gravis of Herlitz;not provided 2017-08-07 8.7 1.0 Pathogenic/Likely pathogenic 0 -370505 Simple 1057516541 AA . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-11 8.7 1.0 Pathogenic/Likely pathogenic 0 -370509 Simple 1057516545 - . Pathogenic 2 2 Glycogen storage disease type III 2017-07-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -370519 Simple 1057516553 G . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 5.7 1.0 Likely pathogenic 0 -370525 Simple 749491616 G . Pathogenic/Likely pathogenic 2 2 Deficiency of butyryl-CoA dehydrogenase;not provided 2017-01-16 8.7 1.5 Pathogenic/Likely pathogenic 0 -370619 Simple 1057516633 T . Pathogenic/Likely pathogenic 2 2 Cohen syndrome 2017-04-05 9.0 0.5 Pathogenic/Likely pathogenic 0 -370632 Simple 1057516643 - . Pathogenic/Likely pathogenic 2 2 Wilson disease;not provided 2016-12-20 9.0 1.0 Pathogenic/Likely pathogenic 0 -370640 Simple 766533795 A . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome 2017-01-04 6.0 1.0 Likely pathogenic 0 -370651 Simple 1057516659 GG . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II;not provided 2017-10-11 9.0 0.5 Pathogenic/Likely pathogenic 0 -370663 Simple 1057516668 - . Pathogenic/Likely pathogenic 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-23 15.0 0.3333333333333333 Pathogenic 1 -370672 Simple 761491320 - . Pathogenic/Likely pathogenic 2 2 Glutaric aciduria, type 1 2016-05-31 9.0 1.0 Pathogenic/Likely pathogenic 0 -370726 Simple 747985669 - . Pathogenic/Likely pathogenic 2 2 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not provided 2016-10-24 9.0 1.0 Pathogenic/Likely pathogenic 0 -370730 Simple 1057516724 TT . Pathogenic/Likely pathogenic 2 2 Limb-girdle muscular dystrophy, type 2B;not provided 2017-05-12 9.0 0.5 Pathogenic/Likely pathogenic 0 -370733 Simple 1057516726 - . Likely pathogenic 2 2 Cohen syndrome;not provided 2016-06-28 6.0 1.0 Likely pathogenic 0 -370779 Simple 1057516760 AA . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome 2016-09-04 9.0 1.0 Pathogenic/Likely pathogenic 0 -370793 Simple 1057516772 - . Likely pathogenic 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-17 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -370807 Simple 765815516 T . Pathogenic/Likely pathogenic 2 2 Isovaleryl-CoA dehydrogenase deficiency;not provided 2016-11-23 9.0 1.0 Pathogenic/Likely pathogenic 0 -370832 Simple 1057516803 AA . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease type III 2017-06-14 9.0 0.5 Pathogenic/Likely pathogenic 0 -370841 Simple 758814126 - . Pathogenic/Likely pathogenic 2 5 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-09 23.4 0.8 Pathogenic 1 -370904 Simple 1800312 A . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II 2017-06-13 9.0 0.5 Pathogenic/Likely pathogenic 0 -370909 Simple 1057516860 - . Pathogenic/Likely pathogenic 2 2 Persistent hyperinsulinemic hypoglycemia of infancy 2016-05-12 8.4 1.5 Pathogenic/Likely pathogenic 0 -370981 Simple 200788251 A . Pathogenic/Likely pathogenic 2 2 Very long chain acyl-CoA dehydrogenase deficiency;not provided 2017-04-27 9.0 0.5 Pathogenic/Likely pathogenic 0 -371070 Simple 1057516980 AAAA . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome 2016-09-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -371079 Simple 1057516988 A . Pathogenic 2 2 Pendred's syndrome;not provided 2017-11-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -371085 Simple 1057516994 AAAA . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease type III;not provided 2016-11-23 9.0 1.0 Pathogenic/Likely pathogenic 0 -371090 Simple 747217399 - . Pathogenic/Likely pathogenic 2 2 Cohen syndrome 2016-06-24 8.4 1.5 Pathogenic/Likely pathogenic 0 -371121 Simple 767454740 - . Pathogenic/Likely pathogenic 2 5 Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;not provided;Hereditary cancer-predisposing syndrome 2017-06-05 21.0 0.8 Pathogenic 1 -371127 Simple 1057517028 T . Pathogenic/Likely pathogenic 2 2 Salla disease;not provided 2016-07-06 8.4 1.5 Pathogenic/Likely pathogenic 0 -371132 Simple 762387914 T . Pathogenic/Likely pathogenic 2 2 Citrullinemia type I 2016-12-17 9.0 1.0 Pathogenic/Likely pathogenic 0 -371188 Simple 876659489 T . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-09-12 6.0 0.5 Likely pathogenic 0 -371246 Simple 148059333 T . Pathogenic/Likely pathogenic 2 2 Carnitine palmitoyltransferase I deficiency;Carnitine palmitoyl transferase 1 deficiency 2017-03-25 9.0 0.5 Pathogenic/Likely pathogenic 0 -371269 Simple 1057517140 - . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-08 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -371324 Simple 778537772 - . Pathogenic/Likely pathogenic 2 3 Autosomal recessive polycystic kidney disease;not provided 2017-08-10 15.0 0.3333333333333333 Pathogenic 1 -371345 Simple 1057517198 GG . Pathogenic 2 2 Homocystinuria due to CBS deficiency;not provided 2016-09-02 11.4 1.5 Pathogenic/Likely pathogenic 1 -371397 Simple 1057517241 T . Pathogenic/Likely pathogenic 2 2 Polyglandular autoimmune syndrome, type 1;not provided 2016-10-25 9.0 1.0 Pathogenic/Likely pathogenic 0 -371415 Simple 61753717 T . Likely pathogenic 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-12-01 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -371428 Simple 1057517262 T . Likely pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency 2017-01-25 6.0 1.0 Likely pathogenic 0 -371438 Simple 771603301 - . Pathogenic 2 2 Wilson disease 2016-09-23 11.4 1.5 Pathogenic/Likely pathogenic 1 -371476 Simple 1057517303 A . Pathogenic 2 2 Enlarged vestibular aqueduct syndrome;Pendred's syndrome 2017-07-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -371490 Simple 767041069 T . Pathogenic 2 2 Tay-Sachs disease;not provided 2016-10-04 11.4 1.5 Pathogenic/Likely pathogenic 1 -371546 Simple 1057517356 - . Pathogenic 2 2 Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided 2017-06-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -371584 Simple 1057517384 GCGC . Pathogenic/Likely pathogenic 2 2 Wilson disease;not provided 2017-03-27 9.0 0.5 Pathogenic/Likely pathogenic 0 -371621 Simple 745538883 T . Likely pathogenic 2 2 Bloom syndrome 2017-06-30 6.0 0.5 Likely pathogenic 0 -371669 Simple 200672668 A . Likely pathogenic 2 2 Alport syndrome, autosomal recessive;not provided 2016-11-10 5.7 1.5 Likely pathogenic 0 -371677 Simple 1057517457 - . Pathogenic/Likely pathogenic 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-06 14.7 1.0 Pathogenic/Likely pathogenic 0 -371682 Simple 1057517460 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-07 -0.6 0.5 Uncertain significance 0 -371683 Simple 540793556 C . Likely benign 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -371696 Simple 762324548 - . Pathogenic/Likely pathogenic 2 3 Zellweger syndrome;not provided;Peroxisome biogenesis disorder 1B 2017-01-16 11.4 1.6666666666666667 Pathogenic/Likely pathogenic 0 -371709 Simple 767178508 T . Pathogenic/Likely pathogenic 2 4 Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;not specified;not provided 2017-04-13 17.4 1.25 Pathogenic 1 -371788 Simple 1057517534 - . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-03 -0.87 1.3333333333333333 Uncertain significance 0 -371790 Simple 760100983 A . Uncertain significance 2 2 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome 2016-09-02 -0.5700000000000001 1.5 Uncertain significance 0 -371792 Simple 1057517537 A . Uncertain significance 2 2 Paragangliomas 4;Hereditary cancer-predisposing syndrome 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -371795 Simple 186768244 A . Uncertain significance 2 3 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-07-25 -0.87 0.6666666666666666 Uncertain significance 0 -371796 Simple 1057517538 T . Likely benign 2 3 Lynch syndrome II;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-30 -8.7 0.6666666666666666 Benign/Likely benign 1 -371797 Simple 1057517539 T . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-05-04 8.7 1.5 Pathogenic/Likely pathogenic 0 -371799 Simple 1057517541 T . Pathogenic/Likely pathogenic 2 3 Lynch syndrome II;Lynch syndrome;not provided 2016-08-31 14.7 1.3333333333333333 Pathogenic/Likely pathogenic 0 -371800 Simple 752980085 G . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -371801 Simple 202119350 A . Uncertain significance 2 3 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-03-28 -0.87 1.0 Uncertain significance 0 -371802 Simple 774299337 C . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 3 2017-01-24 -0.5700000000000001 1.5 Uncertain significance 0 -371805 Simple 748089700 T . Pathogenic/Likely pathogenic 2 4 Paragangliomas 5;not provided;Hereditary cancer-predisposing syndrome 2017-10-27 20.7 0.5 Pathogenic 1 -371806 Simple 1057517542 A . Pathogenic/Likely pathogenic 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-08-17 11.100000000000001 1.6666666666666667 Pathogenic/Likely pathogenic 0 -371807 Simple 760629975 - . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-11-22 -1.17 1.25 Uncertain significance 0 -371809 Simple 1057517544 - . Likely pathogenic 2 2 Familial adenomatous polyposis 1 2016-08-12 5.7 1.5 Likely pathogenic 0 -371817 Simple 758780152 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -371820 Simple 1057517551 TT . Pathogenic/Likely pathogenic 2 4 Hereditary nonpolyposis colorectal cancer type 5;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-02 20.1 1.25 Pathogenic 1 -371821 Simple 548275991 A . Likely benign 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-04-16 -5.7 1.0 Likely benign 0 -371825 Simple 1057517554 C . Uncertain significance 2 2 Familial adenomatous polyposis 1 2017-07-03 -0.5700000000000001 1.0 Uncertain significance 0 -371829 Simple 200021115 A . Uncertain significance 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-08-03 -0.87 1.0 Uncertain significance 0 -371831 Simple 1057517559 C . Likely pathogenic 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-18 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -371833 Simple 1057517560 G . Uncertain significance 2 5 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-19 -1.47 0.8 Uncertain significance 0 -371835 Simple 5745075 A . Benign 2 3 not specified;Colorectal cancer, susceptibility to, 12 2016-04-14 -17.4 1.3333333333333333 Benign/Likely benign 1 -371839 Simple 781161543 T . Pathogenic 2 2 Breast-ovarian cancer, familial 4 2017-06-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -371843 Simple 760572684 T . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 3 2017-05-31 -0.6 0.5 Uncertain significance 0 -371848 Simple 764042245 G . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2016-05-06 -5.7 1.5 Likely benign 0 -371851 Simple 770241997 T . Uncertain significance 2 2 Familial adenomatous polyposis 1 2017-08-02 -0.6 0.5 Uncertain significance 0 -371852 Simple 375610656 T . Likely benign 2 3 Hereditary nonpolyposis colorectal cancer type 5;not provided;Hereditary nonpolyposis colon cancer 2017-05-30 -9.0 0.6666666666666666 Benign/Likely benign 1 -371857 Simple 185555941 T . Likely benign 2 2 Paragangliomas 5;not specified 2017-07-05 -6.0 0.5 Likely benign 0 -371858 Simple 1057517569 - . Uncertain significance 2 2 Familial adenomatous polyposis 1 2017-04-28 -0.6 0.5 Uncertain significance 0 -371859 Simple 367773779 A . Uncertain significance 2 2 Familial adenomatous polyposis 1 2017-05-24 -0.6 0.5 Uncertain significance 0 -371867 Simple 572126995 T . Uncertain significance 2 2 Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-01-10 -0.6 1.0 Uncertain significance 0 -371869 Simple 1057517572 TT . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-07-11 9.0 0.5 Pathogenic/Likely pathogenic 0 -371873 Simple 571641918 ACGACG . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-11-12 -6.0 1.0 Likely benign 0 -371875 Simple 182871847 C . Benign/Likely benign 2 3 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -11.7 1.0 Benign/Likely benign 0 -371877 Simple 750987148 C . Likely benign 2 3 Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -8.7 1.0 Benign/Likely benign 1 -371879 Simple 1057517574 T . Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;not provided 2016-11-30 6.0 1.0 Likely pathogenic 0 -371880 Simple 56082047 T . Likely benign 2 2 Colorectal cancer 10;not specified 2016-07-26 -6.0 1.0 Likely benign 0 -371884 Simple 566422403 C . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-07-13 -6.0 1.0 Likely benign 0 -371885 Simple 772016629 GG . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 1 2017-06-05 -9.0 0.5 Benign/Likely benign 0 -371888 Simple 368209692 C . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-03-23 -6.0 0.5 Likely benign 0 -371889 Simple 751254837 C . Likely benign 2 3 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome 2017-03-20 -9.0 0.6666666666666666 Benign/Likely benign 1 -371890 Simple 1726802 T . Benign/Likely benign 2 2 Colorectal cancer 10;not specified 2016-07-20 -8.4 1.5 Benign/Likely benign 0 -371896 Simple 768950827 T . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-12-19 -6.0 1.0 Likely benign 0 -371898 Simple 191201783 T . Likely benign 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-07-24 -9.0 0.6666666666666666 Benign/Likely benign 1 -371904 Simple 375490101 A . Likely benign 2 2 Colorectal cancer 10;not specified 2017-08-28 -6.0 0.5 Likely benign 0 -371906 Simple 5744775 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-23 -6.0 0.5 Likely benign 0 -371907 Simple 115381003 G . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-21 -6.0 0.5 Likely benign 0 -371909 Simple 193922370 C . Pathogenic/Likely pathogenic 2 3 Lynch syndrome II;Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-05 12.0 1.0 Pathogenic/Likely pathogenic 0 -371914 Simple 550087774 G . Likely benign 2 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-01-09 -8.7 1.3333333333333333 Benign/Likely benign 1 -371916 Simple 1057517583 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12 2017-07-10 -0.6 0.5 Uncertain significance 0 -371919 Simple 1057517585 T . Pathogenic/Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-11-28 18.0 0.6 Pathogenic 1 -371924 Simple 577646338 T . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-01-10 -6.0 1.0 Likely benign 0 -371927 Simple 752389775 - . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-04 -6.0 0.5 Likely benign 0 -371929 Simple 1057517588 - . Uncertain significance 2 4 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-23 -1.2 0.75 Uncertain significance 0 -371931 Simple 1057517589 - . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-11 20.4 1.0 Pathogenic 1 -371932 Simple 775205537 T . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-12-02 -6.0 1.0 Likely benign 0 -371933 Simple 2463239 G . Benign/Likely benign 2 2 Colorectal cancer 10;not specified 2016-08-23 -8.4 1.5 Benign/Likely benign 0 -371935 Simple 193264230 A . Benign/Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-01-03 -11.4 1.3333333333333333 Benign/Likely benign 0 -371939 Simple 765923256 . . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12 2016-08-31 -0.6 1.0 Uncertain significance 0 -371943 Simple 767046355 C . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-04-14 -6.0 0.5 Likely benign 0 -371944 Simple 201591857 C . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-29 -6.0 0.5 Likely benign 0 -371946 Simple 767030551 T . Benign/Likely benign 2 3 Melanoma-pancreatic cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-29 -14.4 1.3333333333333333 Benign/Likely benign 0 -371949 Simple 1057517593 G . Likely benign 2 2 Li-Fraumeni syndrome 1;Li-Fraumeni syndrome 2016-11-15 -6.0 1.0 Likely benign 0 -371950 Simple 199780731 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -371952 Simple 774029323 A . Likely benign 2 2 Familial cancer of breast;not specified 2016-11-02 -6.0 1.0 Likely benign 0 -371955 Simple 1057517594 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-09-19 -0.6 1.0 Uncertain significance 0 -371959 Simple 373179391 A . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -8.7 1.0 Benign/Likely benign 1 -371961 Simple 1057517598 T . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-08 -9.0 0.6666666666666666 Benign/Likely benign 1 -371963 Simple 367666867 A . Likely benign 2 3 Colorectal cancer 10;not specified 2017-05-04 -9.0 0.6666666666666666 Benign/Likely benign 1 -371967 Simple 370108219 C . Benign/Likely benign 2 4 Lynch syndrome II;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-06 -14.4 0.75 Benign/Likely benign 0 -371969 Simple 1057517599 G . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -9.0 1.0 Benign/Likely benign 1 -371970 Simple 768370188 G . Benign/Likely benign 2 2 Lynch syndrome I;not specified 2016-09-16 -8.4 1.5 Benign/Likely benign 0 -371971 Simple 1057517600 - . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-22 9.0 1.0 Pathogenic/Likely pathogenic 0 -371974 Simple 1057517601 T . Uncertain significance 2 2 Melanoma-pancreatic cancer syndrome;Hereditary cutaneous melanoma 2017-04-16 -0.6 0.5 Uncertain significance 0 -371975 Simple 199844384 A . Uncertain significance 2 4 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-10-11 -1.2 0.25 Uncertain significance 0 -371977 Simple 199998187 G . Likely benign 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-03-14 -9.0 0.6666666666666666 Benign/Likely benign 1 -371978 Simple 200320553 G . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-10-06 -6.0 0.5 Likely benign 0 -371979 Simple 151278283 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-16 -0.6 0.5 Uncertain significance 0 -371980 Simple 1057517603 CT . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified 2017-03-01 -0.8999999999999999 1.0 Uncertain significance 0 -371985 Simple 750095985 C . Likely benign 2 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -371992 Simple 760184234 G . Uncertain significance 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-05-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -371993 Simple 368293695 T . Benign/Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-10-03 -11.4 1.3333333333333333 Benign/Likely benign 0 -371994 Simple 376751542 T . Likely benign 2 2 Colorectal cancer 10;not specified 2016-10-03 -6.0 1.0 Likely benign 0 -371996 Simple 3218758 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-08-25 -6.0 0.5 Likely benign 0 -371997 Simple 200576676 A . Likely benign 2 2 Colorectal cancer 10;not specified 2017-07-17 -6.0 0.5 Likely benign 0 -371999 Simple 534413213 A . Likely benign 2 2 Colorectal cancer 10;not specified 2016-10-04 -6.0 1.0 Likely benign 0 -372001 Simple 758877520 G . Uncertain significance 2 3 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-03-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -372002 Simple 201114228 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-03-10 -6.0 0.5 Likely benign 0 -372003 Simple 367945387 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-06-02 -6.0 0.5 Likely benign 0 -372005 Simple 772329761 A . Likely benign 2 2 Colorectal cancer 10;not specified 2017-08-03 -6.0 0.5 Likely benign 0 -372006 Simple 373790607 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12 2017-08-08 -15.0 0.25 Benign/Likely benign 0 -372009 Simple 781212006 C . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-09-28 -6.0 0.5 Likely benign 0 -372012 Simple 767098823 C . Likely benign 2 2 Colorectal cancer 10;not specified 2017-01-17 -6.0 1.0 Likely benign 0 -372013 Simple 376722984 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-09-22 -6.0 0.5 Likely benign 0 -372024 Simple 766094330 G . Uncertain significance 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-13 -1.2 0.75 Uncertain significance 0 -372025 Simple 371098994 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12 2016-10-18 -8.7 1.3333333333333333 Benign/Likely benign 1 -372026 Simple 373998767 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-08 -6.0 0.5 Likely benign 0 -372031 Simple 370675562 C . Likely benign 2 3 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome 2017-01-31 -9.0 1.0 Benign/Likely benign 1 -372035 Simple 760059672 C . Uncertain significance 2 2 Familial adenomatous polyposis 1 2017-04-27 -0.6 0.5 Uncertain significance 0 -372046 Simple 771355581 C . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -372047 Simple 182231620 A . Likely benign 2 2 Colorectal cancer 10;not specified 2017-08-18 -6.0 0.5 Likely benign 0 -372049 Simple 1057517627 . . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-09-25 -6.0 0.5 Likely benign 0 -372052 Simple 1057517630 G . Likely benign 2 2 PTEN hamartoma tumor syndrome;Cowden syndrome 1 2016-10-31 -6.0 1.0 Likely benign 0 -372055 Simple 368120695 A . Benign/Likely benign 2 3 Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome 2016-11-02 -11.4 1.3333333333333333 Benign/Likely benign 0 -372064 Simple 367766963 A . Likely benign 2 2 Colorectal cancer 10;not specified 2016-11-07 -6.0 1.0 Likely benign 0 -372065 Simple 150195182 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-01 -6.0 0.5 Likely benign 0 -372071 Simple 759802920 T . Likely benign 2 4 Colorectal cancer 10;not specified 2017-11-07 -12.0 0.75 Benign/Likely benign 1 -372074 Simple 756417643 AA . Likely benign 2 3 Li-Fraumeni syndrome 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-10 -8.7 1.3333333333333333 Benign/Likely benign 1 -372079 Simple 137855422 A . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Hereditary cancer-predisposing syndrome 2017-01-26 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -372080 Simple 774347808 G . Uncertain significance 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-05-03 -1.1400000000000001 1.25 Uncertain significance 0 -372081 Simple 781646869 T . Uncertain significance 2 4 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -1.2 0.5 Uncertain significance 0 -372088 Simple 1057517642 T . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Hereditary cancer-predisposing syndrome 2017-01-27 -0.8999999999999999 1.0 Uncertain significance 0 -372089 Simple 746026526 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-09-13 -1.2 0.75 Uncertain significance 0 -372093 Simple 141621051 G . Benign/Likely benign 2 4 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2016-09-20 -14.4 1.25 Benign/Likely benign 0 -372094 Simple 1057517644 G . Likely benign 2 4 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -12.0 0.5 Benign/Likely benign 1 -372097 Simple 369153270 T . Likely benign 2 4 Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -11.7 1.0 Benign/Likely benign 1 -372101 Simple 1057517648 - . Pathogenic/Likely pathogenic 2 3 Fanconi anemia, complementation group J;Neoplasm of ovary;Hereditary cancer-predisposing syndrome 2016-12-14 12.0 1.0 Pathogenic/Likely pathogenic 0 -372315 Simple 201633414 T . Pathogenic/Likely pathogenic 2 3 Hypocalciuric hypercalcemia, familial, type 1;not provided;Hypocalcemia, autosomal dominant 1 2017-07-11 15.0 0.6666666666666666 Pathogenic 1 -372329 Simple 775288140 T . Pathogenic/Likely pathogenic 2 2 Recessive dystrophic epidermolysis bullosa;not provided 2017-06-18 9.0 0.5 Pathogenic/Likely pathogenic 0 -372330 Simple 144023803 A . Pathogenic 2 2 Recessive dystrophic epidermolysis bullosa;not provided 2017-08-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -372345 Simple 768128088 GG . Pathogenic 2 2 Recessive dystrophic epidermolysis bullosa;not provided 2016-08-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -372356 Simple 761622153 A . Pathogenic/Likely pathogenic 2 2 Primary ciliary dyskinesia;not provided 2017-05-02 9.0 0.5 Pathogenic/Likely pathogenic 0 -372365 Simple 1057517734 A . Likely pathogenic 2 2 Fumarase deficiency;not provided 2017-06-27 6.0 0.5 Likely pathogenic 0 -372377 Simple 794728391 A . Pathogenic/Likely pathogenic 2 2 Long QT syndrome;not provided 2016-10-01 8.4 1.5 Pathogenic/Likely pathogenic 0 -372404 Simple 36030184 G . Uncertain significance 2 2 not specified 2017-02-13 -0.6 1.0 Uncertain significance 0 -372413 Simple 1057517763 A . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-19 18.0 0.6666666666666666 Pathogenic 0 -372414 Simple 1057517764 TT . Pathogenic 2 5 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-14 27.0 1.8 Pathogenic 0 -372416 Simple 1057517765 C . Pathogenic/Likely pathogenic 2 2 MYH-associated polyposis;not provided 2016-04-12 8.4 2.0 Pathogenic/Likely pathogenic 0 -372423 Simple 143402648 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-07-04 -0.6 0.5 Uncertain significance 0 -372437 Simple 1057517779 A . Pathogenic/Likely pathogenic 2 2 46,XY sex reversal, type 3;not provided 2015-11-11 8.100000000000001 2.0 Likely pathogenic 1 -372444 Simple 1057517785 A . Pathogenic 2 2 Aniridia 1;Irido-corneo-trabecular dysgenesis;not provided 2017-06-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -372454 Simple 866429868 T . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2015-04-17 10.8 2.0 Pathogenic/Likely pathogenic 1 -372470 Simple 1057517801 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-21 17.4 1.0 Pathogenic 0 -372481 Simple 786204858 T . Pathogenic 2 2 PTEN hamartoma tumor syndrome;not provided 2017-03-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -372482 Simple 1057517809 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-12-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -372488 Simple 539590514 G . Pathogenic 2 2 Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not provided 2017-07-31 12.0 0.5 Pathogenic/Likely pathogenic 1 -372501 Simple 1057517818 C . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-29 6.0 1.0 Likely pathogenic 0 -372504 Simple 199974259 T . Pathogenic 2 2 not provided 2017-03-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -372513 Simple 750296853 G . Uncertain significance 2 2 not specified;Rasopathy 2016-11-08 -0.5700000000000001 1.5 Uncertain significance 0 -372516 Simple 368134354 A . Likely pathogenic 2 2 not provided;Erythroderma;Increased IgE level 2016-08-12 5.7 1.5 Likely pathogenic 0 -372519 Simple 368386747 C . Pathogenic 2 2 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;not provided 2017-03-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -372522 Simple 1057517830 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-08-12 9.0 3.5 Pathogenic/Likely pathogenic 1 -372523 Simple 1057517831 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-29 11.4 1.5 Pathogenic/Likely pathogenic 1 -372524 Simple 398123406 C . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-06-19 10.2 2.5 Pathogenic/Likely pathogenic 1 -372539 Simple 1057517840 - . Pathogenic 2 3 Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-22 17.4 1.0 Pathogenic 0 -372540 Simple 1057517841 C . Pathogenic 2 2 not provided;TP63-Related Spectrum Disorders 2017-08-10 11.4 1.0 Pathogenic/Likely pathogenic 1 -372542 Simple 1057517843 T . Pathogenic 2 3 Lissencephaly 3;not provided 2017-08-01 18.0 0.6666666666666666 Pathogenic 0 -372546 Simple 1057517845 A . Pathogenic 2 2 Severe congenital neutropenia X-linked;Thrombocytopenia, X-linked;Wiskott-Aldrich syndrome;not provided 2017-03-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -372563 Simple 869312717 - . Pathogenic 2 2 Rett syndrome, congenital variant;not provided 2016-02-11 10.8 2.0 Pathogenic/Likely pathogenic 1 -372596 Simple 565090080 C . Pathogenic/Likely pathogenic 2 2 not provided;Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2017-11-16 8.7 1.0 Pathogenic/Likely pathogenic 0 -372632 Simple 766540227 C . Uncertain significance 2 2 not specified;Rasopathy 2016-09-20 -0.5700000000000001 1.5 Uncertain significance 0 -372647 Simple 775781057 C . Uncertain significance 2 2 not specified;Rasopathy 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -372662 Simple 745329859 A . Uncertain significance 2 2 not specified 2017-05-26 -0.6 0.5 Uncertain significance 0 -372690 Simple 777829717 A . Uncertain significance 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -0.87 0.6666666666666666 Uncertain significance 0 -372700 Simple 539177302 T . Uncertain significance 2 2 Menkes kinky-hair syndrome;Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;not specified 2017-06-06 -0.6 0.5 Uncertain significance 0 -372722 Simple 1057517944 T . Pathogenic/Likely pathogenic 2 3 Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;Osler hemorrhagic telangiectasia syndrome;not specified;not provided 2017-03-26 18.0 0.6666666666666666 Pathogenic 1 -372723 Simple 1057517945 T . Pathogenic 2 2 Dilated cardiomyopathy 1HH;not provided 2017-03-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -372745 Simple 373075574 T . Pathogenic/Likely pathogenic 2 2 Mitochondrial complex I deficiency;not provided 2017-11-15 9.0 0.5 Pathogenic/Likely pathogenic 0 -372748 Simple 763191789 A . Pathogenic 2 2 Citrin deficiency;not provided 2016-12-13 12.0 1.0 Pathogenic/Likely pathogenic 1 -372754 Simple 72648337 T . Pathogenic 2 2 Osteogenesis imperfecta type I;not provided 2016-12-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -372756 Simple 1057517967 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -372759 Simple 397514037 T . Pathogenic/Likely pathogenic 2 2 Aortic aneurysm, familial thoracic 4;not provided 2017-02-06 9.0 1.0 Pathogenic/Likely pathogenic 0 -372761 Simple 757641323 A . Pathogenic 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not provided 2017-02-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -372785 Simple 985033810 T . Likely pathogenic 2 3 Liver cancer;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Adenocarcinoma of lung;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;not provided;Neoplasm of brain;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Carcinoma of esophagus;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma 2016-06-27 9.0 1.0 Pathogenic/Likely pathogenic 1 -372793 Simple 144106169 A . Uncertain significance 2 2 Familial hemiplegic migraine;not specified 2016-11-19 -0.6 1.0 Uncertain significance 0 -372811 Simple 565885690 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-08-03 -0.6 0.5 Uncertain significance 0 -372878 Simple 1057518042 G . Likely pathogenic 2 2 Anemia sideroblastic and spinocerebellar ataxia;not provided 2017-07-06 5.7 1.0 Likely pathogenic 0 -372922 Simple 1057518076 C . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-12-01 -0.6 1.0 Uncertain significance 0 -372949 Simple 184458982 A . Uncertain significance 2 2 not specified;not provided 2016-10-31 -0.6 1.0 Uncertain significance 0 -372995 Simple 1057518127 T . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-06-07 -0.6 0.5 Uncertain significance 0 -373013 Simple 1043384862 T . Pathogenic/Likely pathogenic 2 2 Short-rib thoracic dysplasia 3 with or without polydactyly;not provided;Short-rib polydactyly syndrome type III 2017-06-01 5.4 2.0 Likely pathogenic 1 -373038 Simple 200199765 A . Pathogenic 2 2 not provided 2017-10-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -373075 Simple . . . Pathogenic 2 2 Congenital myopathy with fiber type disproportion;not provided 2016-10-21 11.4 1.5 Pathogenic/Likely pathogenic 1 -373085 Simple 794728244 C . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;not provided 2016-11-09 9.0 1.0 Pathogenic/Likely pathogenic 0 -373087 Simple 1057518204 T . Pathogenic 2 2 Mental retardation, autosomal dominant 7;not provided 2016-11-07 12.0 1.0 Pathogenic/Likely pathogenic 1 -373091 Simple 1057518207 T . Pathogenic 2 2 Duchenne muscular dystrophy;not provided 2017-07-17 12.0 0.5 Pathogenic/Likely pathogenic 1 -373101 Simple 1057518216 T . Pathogenic 2 2 Camptomelic dysplasia;not provided 2017-06-29 12.0 0.5 Pathogenic/Likely pathogenic 1 -373109 Simple 1057518223 T . Pathogenic/Likely pathogenic 2 2 not provided 2017-03-15 9.0 0.5 Pathogenic/Likely pathogenic 0 -373118 Simple 1057518230 A . Pathogenic 2 2 not provided 2016-11-12 12.0 1.0 Pathogenic/Likely pathogenic 1 -373131 Simple 753559567 T . Uncertain significance 2 2 CHARGE association;not specified 2016-11-26 -0.6 1.0 Uncertain significance 0 -373158 Simple 780707718 C . Uncertain significance 2 2 not specified;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 -0.6 0.5 Uncertain significance 0 -373178 Simple 144797861 C . Uncertain significance 2 2 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified 2016-12-20 -0.6 1.0 Uncertain significance 0 -373189 Simple 146490004 T . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-01-31 -0.6 1.0 Uncertain significance 0 -373229 Simple 1057518297 T . Pathogenic 2 2 Renal carnitine transport defect;not provided 2017-05-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -373248 Simple 202144877 C . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-05-11 -0.6 0.5 Uncertain significance 0 -373262 Simple 200462734 A . Uncertain significance 2 2 Alstrom syndrome;not specified 2016-11-23 -0.6 1.0 Uncertain significance 0 -373270 Simple 758565663 A . Uncertain significance 2 2 not specified;Left ventricular noncompaction 8 2017-03-10 -0.6 0.5 Uncertain significance 0 -373294 Simple 758152252 A . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-03-25 -0.6 0.5 Uncertain significance 0 -373327 Simple 1057518352 T . Pathogenic 2 2 Mental retardation, autosomal dominant 5;not provided 2017-01-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -373401 Simple 760278435 A . Uncertain significance 2 2 Dystonia 10;not specified 2016-12-05 -0.6 1.0 Uncertain significance 0 -373402 Simple 138088984 G . Uncertain significance 2 2 not specified 2016-11-28 -0.6 1.0 Uncertain significance 0 -373421 Simple 148232621 A . Uncertain significance 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-07-19 -0.6 0.5 Uncertain significance 0 -373423 Simple 782407440 C . Uncertain significance 2 2 not specified 2016-12-06 -0.5700000000000001 1.5 Uncertain significance 0 -373531 Simple 1057518466 G . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-03-07 -0.6 0.5 Uncertain significance 0 -373561 Simple 139190636 A . Uncertain significance 2 3 Lethal multiple pterygium syndrome;not specified 2017-06-19 -0.87 1.0 Uncertain significance 0 -373594 Simple 559020511 G . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-04-24 -0.6 0.5 Uncertain significance 0 -373652 Simple 141563497 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-03-07 -0.6 0.5 Uncertain significance 0 -373680 Simple 138978909 A . Uncertain significance 2 2 not specified;RYR1-Related Disorders 2017-02-17 -0.6 1.0 Uncertain significance 0 -373721 Simple 116306908 G . Uncertain significance 2 2 not specified 2016-12-14 -0.5700000000000001 1.5 Uncertain significance 0 -373738 Simple 752941845 A . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-12-08 -0.6 1.0 Uncertain significance 0 -373745 Simple 781304969 A . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2016-12-12 -0.6 1.0 Uncertain significance 0 -373769 Simple 763147599 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -373774 Simple 1057518603 - . Likely pathogenic 2 2 not provided 2016-12-01 6.0 1.0 Likely pathogenic 0 -373788 Simple 765351308 G . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-27 -0.6 0.5 Uncertain significance 0 -373822 Simple 1057518635 - . Pathogenic 2 1 not provided;Neoplasm of the breast 2015-07-22 . 2.0 . 0 -373824 Simple 1057518637 T . Pathogenic 2 1 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-03-16 . 0.0 . 0 -373868 Simple . . . Pathogenic 2 2 Breast-ovarian cancer, familial 1 2015-10-02 10.8 2.0 Pathogenic/Likely pathogenic 1 -373958 Simple 771820789 A . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2018-02-03 7.8 2.0 Likely pathogenic 1 -373977 Simple 549794342 A . Likely pathogenic 2 4 Nemaline myopathy 2;not provided;Muscular dystrophy;Progressive proximal muscle weakness;Limb pain 2016-12-28 11.7 1.25 Pathogenic/Likely pathogenic 1 -374019 Simple 200750564 T . Pathogenic/Likely pathogenic 2 2 not provided;Hypospadias;Oligospermia;Syndactyly;Male infertility;Mesoaxial hand polydactyly;Polydactyly 2016-09-07 8.4 1.5 Pathogenic/Likely pathogenic 0 -374027 Simple 775796581 - . Pathogenic 2 2 Achromatopsia 3;Leber congenital amaurosis;Nystagmus;Abnormal electroretinogram 2017-03-27 10.2 2.5 Pathogenic/Likely pathogenic 1 -374028 Simple 140638938 A . Uncertain significance 2 2 Nystagmus;not provided;Abnormal electroretinogram 2016-10-31 -0.54 2.0 Uncertain significance 0 -374033 Simple 71581017 T . Uncertain significance 2 2 Atrial fibrillation, familial, 7;Cardiac disease 2017-02-12 -0.5700000000000001 1.5 Uncertain significance 0 -374034 Simple 1057518849 A . Pathogenic 2 2 not provided;Abnormal facial shape;Polymicrogyria;Global developmental delay;Difficulty walking 2017-09-27 11.4 1.0 Pathogenic/Likely pathogenic 1 -374052 Simple 780261665 A . Pathogenic 2 2 Short stature;Toe syndactyly;not provided;Finger syndactyly;Palmoplantar blistering 2016-10-21 11.4 1.5 Pathogenic/Likely pathogenic 1 -374088 Simple 150772804 A . Uncertain significance 2 2 Polymicrogyria;Spastic paraplegia 64, autosomal recessive;Microcephaly;Global developmental delay 2017-03-14 -0.5700000000000001 1.0 Uncertain significance 0 -374093 Simple 1057518894 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer 2017-05-16 -0.54 1.5 Uncertain significance 0 -374097 Simple 1057518897 T . Pathogenic 2 2 not provided;Hypertension;Multiple renal cysts 2016-09-29 11.4 1.5 Pathogenic/Likely pathogenic 1 -374108 Simple 1057518904 G . Pathogenic 2 3 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome;Neurofibromas;Multiple cafe-au-lait spots 2016-12-07 16.2 2.0 Pathogenic 0 -374135 Simple 370966353 T . Uncertain significance 2 2 Congenital myasthenic syndrome;not provided 2016-09-30 -0.54 2.0 Uncertain significance 0 -374140 Simple 140845195 A . Pathogenic 2 3 Pyridoxine-dependent epilepsy;Seizures;not provided;Ventriculomegaly 2017-06-30 16.8 1.3333333333333333 Pathogenic 0 -374145 Simple 760768093 - . Likely pathogenic 2 2 Limb-girdle muscular dystrophy, type 2J;Waddling gait;Muscular dystrophy;Limb-girdle muscular dystrophy;Proximal lower limb amyotrophy;Decreased patellar reflex 2017-07-25 5.4 1.5 Likely pathogenic 0 -374148 Simple 1057518929 C . Uncertain significance 2 2 not specified;Descending aortic aneurysm;Arterial tortuosity 2015-12-17 -0.51 2.5 Uncertain significance 0 -374425 Simple 367921276 C . Uncertain significance 2 2 Episodic ataxia type 1;not provided 2017-07-21 -0.6 0.5 Uncertain significance 0 -374431 Simple 145172949 A . Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not provided 2017-04-08 -6.0 0.5 Likely benign 0 -374453 Simple 1057519106 A . Uncertain significance 2 2 Duchenne muscular dystrophy;not provided 2017-06-27 -0.6 0.5 Uncertain significance 0 -374457 Simple 748333558 T . Uncertain significance 2 2 not provided;Global developmental delay 2017-02-21 -0.6 1.0 Uncertain significance 0 -374462 Simple 113313996 G . Uncertain significance 2 2 not provided 2017-06-22 -0.6 0.5 Uncertain significance 0 -374497 Simple 368088025 A . Pathogenic/Likely pathogenic 2 2 Leber congenital amaurosis 2;Retinitis pigmentosa 20;not provided 2017-05-07 9.0 0.5 Pathogenic/Likely pathogenic 0 -374505 Simple 762060470 T . Pathogenic/Likely pathogenic 2 2 Tay-Sachs disease;not provided 2017-02-28 9.0 1.0 Pathogenic/Likely pathogenic 0 -374535 Simple 142971568 G . Uncertain significance 2 2 not specified;not provided 2016-08-31 -0.5700000000000001 1.5 Uncertain significance 0 -374539 Simple 1057519145 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not provided 2017-05-27 -0.6 0.5 Uncertain significance 0 -374565 Simple 1057519154 A . Uncertain significance 2 2 not specified;not provided 2017-04-07 -0.6 0.5 Uncertain significance 0 -374581 Simple 142476892 T . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.6 0.0 Uncertain significance 0 -374611 Simple 758246840 G . Uncertain significance 2 2 not specified;not provided 2016-11-11 -0.6 1.0 Uncertain significance 0 -374637 Simple 777751303 A . Pathogenic/Likely pathogenic 2 2 not provided 2016-07-31 7.8 2.0 Likely pathogenic 1 -374648 Simple 61736590 A . Uncertain significance 2 2 not specified;not provided 2017-04-12 -0.6 0.5 Uncertain significance 0 -374659 Simple 144963732 A . Uncertain significance 2 2 not specified;not provided 2017-01-13 -0.6 1.0 Uncertain significance 0 -374687 Simple 1057519201 C . Uncertain significance 2 2 Epilepsy, childhood absence 1;Epilepsy, childhood absence 5;not provided 2017-03-26 -0.6 0.5 Uncertain significance 0 -374724 Simple 767567428 T . Uncertain significance 2 7 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-12 -2.07 0.7142857142857143 Uncertain significance 0 -374731 Simple 377729019 A . Uncertain significance 2 2 not specified;not provided 2016-11-30 -0.6 1.0 Uncertain significance 0 -374759 Simple 1057519235 A . Uncertain significance 2 2 not provided;Spastic paraplegia 2017-06-20 -0.6 0.5 Uncertain significance 0 -374760 Simple 760500171 T . Uncertain significance 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not provided;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-05-23 -0.6 0.5 Uncertain significance 0 -374794 Simple 1060499548 A . Pathogenic 2 2 Congenital heart disease;Failure to thrive;not provided;Abnormality of skeletal morphology;CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 2017-08-02 12.0 0.5 Pathogenic/Likely pathogenic 1 -374798 Simple 186244229 T . Uncertain significance 2 2 Frontonasal dysplasia 2;not provided 2017-07-17 -0.6 0.5 Uncertain significance 0 -374799 Simple 769423231 G . Uncertain significance 2 2 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;Rasopathy 2016-09-03 -0.6 1.0 Uncertain significance 0 -374801 Simple 1057519031 A . Likely benign 2 2 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;Rasopathy 2016-12-27 -6.0 1.0 Likely benign 0 -374814 Simple 1057519041 C . Pathogenic 2 2 Pfeiffer syndrome;FGFR2 related craniosynostosis 2016-12-13 12.0 1.0 Pathogenic/Likely pathogenic 1 -374820 Simple 121918487 G . Pathogenic 2 2 Jackson-Weiss syndrome;FGFR2 related craniosynostosis 2017-08-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -374829 Simple 751610198 G . Pathogenic/Likely pathogenic 2 2 not provided;Epileptic encephalopathy, early infantile, 50 2017-12-09 9.0 0.0 Pathogenic/Likely pathogenic 0 -374938 Simple 746393911 G . Uncertain significance 2 2 Familial adenomatous polyposis 1 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -374947 Simple 141505320 G . Uncertain significance 2 2 Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -374948 Simple 369055628 A . Uncertain significance 2 4 Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;not provided 2017-02-28 -1.2 1.0 Uncertain significance 0 -374952 Simple 139334561 A . Uncertain significance 2 3 Osler hemorrhagic telangiectasia syndrome;not provided 2017-01-25 -0.87 1.3333333333333333 Uncertain significance 0 -374955 Simple 199472881 C . Uncertain significance 2 3 Short QT syndrome 1;Long QT syndrome 2;Long QT syndrome 2016-07-18 -0.8400000000000001 1.6666666666666667 Uncertain significance 0 -374960 Simple 1057519255 G . Uncertain significance 2 3 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2017-08-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -374963 Simple 748516947 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4 2016-12-13 -0.6 1.0 Uncertain significance 0 -374971 Simple 1057519257 G . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12 2017-02-03 -0.6 1.0 Uncertain significance 0 -374972 Simple 200776293 T . Uncertain significance 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-22 -1.17 0.75 Uncertain significance 0 -374974 Simple 141942845 A . Uncertain significance 2 2 Malignant hyperthermia, susceptibility to, 1;RYR1-Related Disorders;RYR1-Related Disorder 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -374977 Simple 1057519259 G . Uncertain significance 2 2 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-03 -0.5700000000000001 1.5 Uncertain significance 0 -374982 Simple 1057519261 A . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome 2016-05-27 -0.5700000000000001 1.5 Uncertain significance 0 -375406 Simple 201895089 G . Pathogenic 2 3 Deafness, autosomal recessive 1A;not specified;not provided 2017-08-21 18.0 0.6666666666666666 Pathogenic 0 -375408 Simple 545937015 G . Likely pathogenic 2 2 Nemaline myopathy 2 2017-07-24 6.0 0.5 Likely pathogenic 0 -375446 Simple 1057519494 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-05 -0.51 2.5 Uncertain significance 0 -375447 Simple 80357401 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.84 1.3333333333333333 Uncertain significance 0 -375449 Simple 1057519496 T . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -1.2 0.25 Uncertain significance 0 -375450 Simple 398122573 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome 2016-12-24 -0.5700000000000001 1.5 Uncertain significance 0 -375465 Simple 775714882 T . Uncertain significance 2 2 not specified;Seizures;Intellectual disability 2016-05-09 -0.6 1.0 Uncertain significance 0 -375503 Simple 1057519522 A . Pathogenic 2 2 not provided;Hypotonia, ataxia, and delayed development syndrome;Neurodevelopmental disorder 2017-07-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -375508 Simple 1057519526 T . Pathogenic/Likely pathogenic 2 2 Early infantile epileptic encephalopathy 11;Epileptic encephalopathy 2017-10-25 9.0 0.5 Pathogenic/Likely pathogenic 0 -375540 Simple 1057519556 A . Uncertain significance 2 2 Idiopathic generalized epilepsy;Epileptic encephalopathy 2017-06-14 -0.6 0.5 Uncertain significance 0 -375543 Simple 866859766 A . Uncertain significance 2 2 Early infantile epileptic encephalopathy 2;Angelman syndrome-like;Epileptic encephalopathy 2016-11-16 -0.6 1.0 Uncertain significance 0 -375554 Simple 1057519565 T . Pathogenic/Likely pathogenic 2 3 not provided;Mental retardation, autosomal dominant 24 2017-05-12 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -375653 Simple 1041983 T . drug response 3 0 ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR . . . . 0 -375654 Simple 10509681 C . drug response 3 0 rosiglitazone response - Dosage . . . . 0 -375655 Simple 1076560 A . drug response 3 0 cocaine response - Toxicity/ADR . . . . 0 -375656 Simple 11045879 C . drug response 3 0 methotrexate response - Toxicity/ADR . . . . 0 -375657 Simple 11676382 G . drug response 3 0 warfarin response - Dosage . . . . 0 -375658 Simple 11881222 G . drug response 3 0 peginterferon alfa-2a response - Efficacy;peginterferon alfa-2b response - Efficacy;ribavirin response - Efficacy . . . . 0 -375659 Simple 1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC . drug response 3 0 captopril response - Efficacy . . . . 0 -375660 Simple 2072661 A . drug response 3 0 nicotine response - Efficacy, Toxicity/ADR . . . . 0 -375661 Simple 2279345 C . drug response 3 0 efavirenz response - Metabolism/PK . . . . 0 -375662 Simple 2298383 A . drug response 3 0 caffeine response - Toxicity/ADR . . . . 0 -375663 Simple 151264360 - . drug response 3 0 capecitabine response - Efficacy;fluorouracil response - Efficacy . . . . 0 -375664 Simple 3918290 G . drug response 3 0 Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK;capecitabine response - Toxicity/ADR, Metabolism/PK;fluorouracil response - Toxicity/ADR, Metabolism/PK;tegafur response - Toxicity/ADR, Metabolism/PK . . . . 0 -375665 Simple 56165452 C . drug response 3 0 warfarin response - Dosage . . . . 0 -375666 Simple 578776 A . drug response 3 0 nicotine response - Toxicity/ADR, Metabolism/PK . . . . 0 -375667 Simple 6295 G . drug response 3 0 paroxetine response - Efficacy . . . . 0 -375668 Simple 75039782 G . drug response 3 0 ataluren response - Efficacy . . . . 0 -375669 Simple 7853758 A . drug response 3 0 anthracyclines and related substances response - Toxicity/ADR . . . . 0 -375670 Simple 885004 A . drug response 3 0 anthracyclines and related substances response - Toxicity/ADR . . . . 0 -375701 Simple 368313959 T . Pathogenic 2 2 Seizure Disorders;not provided;Intellectual disability;Dysmorphic features;Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 2018-01-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -375782 Simple 879254502 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -375783 Simple 879254506 A . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -375785 Simple 879254549 C . Likely pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 5.7 1.5 Likely pathogenic 0 -375794 Simple 1057519661 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -375796 Simple 879254642 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -375803 Simple 1057519665 - . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -375809 Simple 879254821 C . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia;not provided 2017-01-09 9.0 1.0 Pathogenic/Likely pathogenic 0 -375812 Simple 1057519669 G . Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 6.0 0.5 Likely pathogenic 0 -375813 Simple 1057519670 T . Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 6.0 0.5 Likely pathogenic 0 -375817 Simple 1057519673 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -375821 Simple 138947766 A . Pathogenic 2 3 Familial hypercholesterolemia 2017-03-30 17.4 1.0 Pathogenic 0 -375824 Simple 1057519677 G . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -375830 Simple 1057519681 CC . Pathogenic 2 2 Familial hypercholesterolemia 2016-12-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -376032 Simple 121913294 A . Pathogenic/Likely pathogenic 2 3 PTEN hamartoma tumor syndrome;not provided;Neoplasm of brain 2017-04-27 18.0 0.6666666666666666 Pathogenic 1 -376334 Simple 121913324 T . Pathogenic/Likely pathogenic 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome;Neoplasm 2017-02-15 11.4 1.5 Pathogenic/Likely pathogenic 0 -376509 Simple 121909229 T . Pathogenic/Likely pathogenic 2 2 Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Kidney cancer;Squamous cell carcinoma of lung;not provided;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hereditary cancer-predisposing syndrome;Colorectal Neoplasms;Uterine cervical neoplasms;Adenocarcinoma of stomach;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma 2017-09-18 11.4 1.0 Pathogenic/Likely pathogenic 0 -376649 Simple 138729528 C . Pathogenic/Likely pathogenic 2 2 Liver cancer;Chronic lymphocytic leukemia;Medulloblastoma;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Nasopharyngeal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate;Uterine Carcinosarcoma;Carcinoma of gallbladder 2017-07-05 9.0 0.5 Pathogenic/Likely pathogenic 0 -376762 Simple 199511876 T . Benign/Likely benign 2 2 not specified;not provided 2017-07-10 -9.0 0.5 Benign/Likely benign 0 -376783 Simple 1057520053 T . Pathogenic/Likely pathogenic 2 2 not provided 2016-12-06 9.0 1.0 Pathogenic/Likely pathogenic 0 -376788 Simple 151294087 A . Uncertain significance 2 2 not specified;not provided 2017-10-13 -0.6 0.5 Uncertain significance 0 -376797 Simple 201955990 T . Uncertain significance 2 3 Brugada syndrome;not specified;not provided 2017-05-01 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -376799 Simple 144658100 C . Uncertain significance 2 2 Carnitine palmitoyltransferase II deficiency;not provided 2017-06-22 -0.6 0.5 Uncertain significance 0 -376802 Simple 59052554 T . Benign/Likely benign 2 2 Idiopathic generalized epilepsy;not provided;Hyperaldosteronism, familial, type IV 2017-05-01 -9.0 0.5 Benign/Likely benign 0 -376823 Simple 760409547 A . Uncertain significance 2 2 Primary ciliary dyskinesia;not provided 2016-11-08 -0.6 1.0 Uncertain significance 0 -376840 Simple 34364382 T . Benign/Likely benign 2 3 not specified;not provided;Myasthenic syndrome, congenital, 15 2017-07-12 -11.7 1.0 Benign/Likely benign 0 -376842 Simple 141447598 G . Uncertain significance 2 2 not provided 2017-04-30 -0.6 0.5 Uncertain significance 0 -376856 Simple 145392673 T . Benign/Likely benign 2 2 not specified;not provided 2017-01-11 -9.0 1.0 Benign/Likely benign 0 -376870 Simple 567246585 T . Likely benign 2 2 not specified;not provided 2016-07-15 -6.0 1.0 Likely benign 0 -376872 Simple 782518861 C . Uncertain significance 2 2 not specified;not provided 2016-11-10 -0.5700000000000001 1.5 Uncertain significance 0 -376878 Simple 144410580 C . Benign/Likely benign 2 2 Transposition of the great arteries, dextro-looped 1;not provided 2017-05-23 -9.0 0.5 Benign/Likely benign 0 -376881 Simple 56386767 A . Benign 2 2 not provided;Epileptic encephalopathy, early infantile, 30 2017-07-19 -12.0 0.5 Benign/Likely benign 1 -376888 Simple 145639192 G . Uncertain significance 2 2 not specified;not provided 2017-01-17 -0.6 1.0 Uncertain significance 0 -376893 Simple 142704960 C . Uncertain significance 2 2 Joubert syndrome;not provided 2017-05-16 -0.6 0.5 Uncertain significance 0 -376894 Simple 191357265 T . Benign/Likely benign 2 3 not specified;not provided;Adams-Oliver syndrome 5 2017-05-12 -12.0 0.3333333333333333 Benign/Likely benign 0 -376911 Simple 28454778 A . Benign/Likely benign 2 2 not provided;Mental retardation, autosomal recessive 53 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -376914 Simple 138698439 T . Benign/Likely benign 2 2 Koolen-de Vries syndrome;not provided 2017-06-08 -9.0 0.5 Benign/Likely benign 0 -376924 Simple 61749092 T . Benign 2 2 not provided;Mental retardation, autosomal recessive 53 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -376936 Simple 140466090 G . Benign/Likely benign 2 2 not specified;not provided 2016-09-13 -9.0 1.0 Benign/Likely benign 0 -376943 Simple 118138806 C . Benign/Likely benign 2 2 Fanconi anemia;not provided 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -376953 Simple 138921247 C . Benign/Likely benign 2 2 Alstrom syndrome;not provided 2017-01-05 -9.0 1.0 Benign/Likely benign 0 -376955 Simple 759331923 - . Benign/Likely benign 2 3 Episodic ataxia type 2;not specified;not provided;Epileptic encephalopathy, early infantile, 42 2017-06-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -376966 Simple 146873580 A . Uncertain significance 2 2 not specified;not provided 2016-12-16 -0.6 1.0 Uncertain significance 0 -376971 Simple 114744903 C . Benign/Likely benign 2 2 Fanconi anemia;not provided 2017-07-05 -9.0 0.5 Benign/Likely benign 0 -376974 Simple 149112292 C . Likely benign 2 2 Fanconi anemia;not provided 2017-05-08 -6.0 0.5 Likely benign 0 -376975 Simple 777638594 A . Uncertain significance 2 2 not specified;not provided 2017-06-08 -0.6 0.5 Uncertain significance 0 -376988 Simple 182698253 G . Uncertain significance 2 2 not specified;not provided 2017-01-26 -0.6 1.0 Uncertain significance 0 -376990 Simple 150218102 G . Benign/Likely benign 2 3 Spastic paraplegia 11, autosomal recessive;not specified;not provided 2017-06-26 -12.0 0.3333333333333333 Benign/Likely benign 0 -376992 Simple 8178228 C . Benign/Likely benign 2 2 not provided;Immunodeficiency 26 with or without neurologic abnormalities 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -377000 Simple 756912340 T . Uncertain significance 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not provided 2017-04-07 -0.6 0.5 Uncertain significance 0 -377003 Simple 145043229 T . Benign/Likely benign 2 2 not specified;not provided 2017-01-02 -8.4 1.5 Benign/Likely benign 0 -377004 Simple 55865499 A . Likely benign 2 2 not specified;not provided 2017-04-10 -6.0 0.5 Likely benign 0 -377007 Simple 142520878 T . Likely benign 2 2 not specified;not provided 2016-12-02 -6.0 1.0 Likely benign 0 -377009 Simple 115970214 T . Benign/Likely benign 2 3 Spastic paraplegia 11, autosomal recessive;not specified;not provided 2017-06-26 -15.0 0.3333333333333333 Benign/Likely benign 0 -377018 Simple 200511261 G . Pathogenic 2 2 Autosomal recessive polycystic kidney disease;not provided 2017-01-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -377021 Simple 80338930 C . Pathogenic 2 2 Charcot-Marie-Tooth disease, type IV;not provided 2017-07-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -377034 Simple 150151955 G . Benign/Likely benign 2 2 Adrenoleukodystrophy;not provided 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -377038 Simple 369518478 A . Benign/Likely benign 2 2 not specified;not provided 2017-01-12 -8.7 1.5 Benign/Likely benign 0 -377063 Simple 2229558 A . Benign/Likely benign 2 2 Infantile myofibromatosis 1;Premature aging syndrome, Penttinen type;Basal ganglia calcification, idiopathic, 4;not provided;Kosaki overgrowth syndrome 2017-05-31 -9.0 0.5 Benign/Likely benign 0 -377064 Simple 114276563 T . Benign/Likely benign 2 2 not specified;not provided 2017-01-13 -9.0 1.0 Benign/Likely benign 0 -377065 Simple 112095333 A . Benign/Likely benign 2 2 not provided;Myoclonic-atonic epilepsy 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -377074 Simple 550878772 - . Benign/Likely benign 2 2 not provided;Epileptic encephalopathy, early infantile, 30 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -377081 Simple 55827768 G . Benign/Likely benign 2 2 Bare lymphocyte syndrome type 1;not provided 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -377083 Simple 1057520127 - . Likely pathogenic 2 2 not provided 2016-09-30 6.0 1.0 Likely pathogenic 0 -377093 Simple 150942467 C . Benign/Likely benign 2 2 Rigidity and multifocal seizure syndrome, lethal neonatal;not provided 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -377094 Simple 376429571 A . Uncertain significance 2 2 not specified;not provided 2016-11-30 -0.5700000000000001 1.5 Uncertain significance 0 -377097 Simple 569337014 - . Likely benign 2 2 Singleton-Merten syndrome 1;not provided;Aicardi-goutieres syndrome 7 2017-07-31 -6.0 0.5 Likely benign 0 -377098 Simple 140583017 G . Uncertain significance 2 2 not specified;not provided 2017-03-15 -0.6 0.5 Uncertain significance 0 -377113 Simple 1057520136 - . Pathogenic 2 2 Aortic valve disease 2;not provided 2017-02-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -377114 Simple 8178040 C . Benign 2 2 not provided;Immunodeficiency 26 with or without neurologic abnormalities 2017-06-21 -12.0 0.5 Benign/Likely benign 1 -377130 Simple 35400360 G . Benign 2 2 not provided;Epileptic encephalopathy, early infantile, 23 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -377131 Simple 999545482 C . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not provided 2016-10-14 -0.6 1.0 Uncertain significance 0 -377133 Simple 117256383 T . Benign/Likely benign 2 2 Molybdenum cofactor deficiency, complementation group C;not provided 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -377137 Simple 139502866 C . Benign/Likely benign 2 2 not specified;not provided 2017-02-08 -9.0 1.0 Benign/Likely benign 0 -377139 Simple 34987632 T . Benign/Likely benign 2 2 not provided;Epileptic encephalopathy, early infantile, 30 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -377149 Simple 61757608 C . Benign 2 2 Dyskeratosis congenita;not provided 2017-06-21 -12.0 0.5 Benign/Likely benign 1 -377151 Simple 145749914 A . Benign 2 2 not specified;not provided 2017-01-05 -11.4 1.5 Benign/Likely benign 1 -377159 Simple 184939069 T . Uncertain significance 2 2 not specified;not provided 2016-07-11 -0.5700000000000001 1.5 Uncertain significance 0 -377161 Simple 114088695 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not provided 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -377164 Simple 56359259 T . Benign/Likely benign 2 2 not specified;not provided 2016-12-06 -9.0 1.0 Benign/Likely benign 0 -377180 Simple 114868912 A . Benign 2 2 Atrioventricular septal defect 4;not provided 2017-07-18 -12.0 0.5 Benign/Likely benign 1 -377189 Simple 142806268 G . Uncertain significance 2 2 not specified;not provided 2017-08-18 -0.6 0.5 Uncertain significance 0 -377192 Simple 78348923 G . Benign/Likely benign 2 2 Glycogen storage disease type III;not provided 2017-07-13 -9.0 0.5 Benign/Likely benign 0 -377230 Simple 148651456 A . Benign/Likely benign 2 2 Idiopathic generalized epilepsy;not provided;Hyperaldosteronism, familial, type IV 2017-07-03 -9.0 0.5 Benign/Likely benign 0 -377237 Simple 145110365 A . Uncertain significance 2 2 not specified;not provided 2016-09-29 -0.5700000000000001 1.5 Uncertain significance 0 -377242 Simple 201139273 A . Uncertain significance 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not provided 2017-01-05 -0.6 1.0 Uncertain significance 0 -377243 Simple 562480894 G . Uncertain significance 2 2 not specified;not provided 2017-08-31 -0.6 0.5 Uncertain significance 0 -377256 Simple 143660836 T . Uncertain significance 2 2 not specified;not provided 2017-08-23 -0.6 0.5 Uncertain significance 0 -377257 Simple 150321966 A . Pathogenic/Likely pathogenic 2 3 not provided;Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2017-11-16 12.0 0.3333333333333333 Pathogenic/Likely pathogenic 0 -377258 Simple 61735931 C . Benign/Likely benign 2 2 not provided;Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -377273 Simple 61745465 T . Likely benign 2 2 not specified;not provided 2017-04-26 -6.0 0.5 Likely benign 0 -377286 Simple 1057520183 T . Uncertain significance 2 2 not specified;not provided 2016-07-21 -0.5700000000000001 1.5 Uncertain significance 0 -377294 Simple 375344827 - . Benign/Likely benign 2 2 not specified;not provided 2017-02-08 -8.4 1.5 Benign/Likely benign 0 -377296 Simple 6934360 T . Benign 2 2 not specified;not provided 2016-12-30 -12.0 1.0 Benign/Likely benign 1 -377298 Simple 61758804 G . Benign 2 3 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified;not provided 2017-04-18 -18.0 0.6666666666666666 Benign/Likely benign 1 -377304 Simple 199963793 G . Uncertain significance 2 2 Deficiency of 2-methylbutyryl-CoA dehydrogenase;not provided 2017-04-03 -0.6 0.5 Uncertain significance 0 -377311 Simple 76491994 C . Benign/Likely benign 2 3 not specified;not provided 2017-01-04 -12.0 1.0 Benign/Likely benign 0 -377320 Simple 190920873 G . Benign 2 2 not specified;not provided 2016-06-14 -12.0 1.0 Benign/Likely benign 1 -377351 Simple 1057520203 T . Uncertain significance 2 3 Rhabdoid tumor predisposition syndrome 2;not provided;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -377356 Simple 34083889 A . Benign 2 3 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8;not provided 2017-08-02 -18.0 0.6666666666666666 Benign/Likely benign 1 -377376 Simple 1057520208 A . Pathogenic/Likely pathogenic 2 3 PTEN hamartoma tumor syndrome;not provided 2017-09-12 15.0 0.3333333333333333 Pathogenic 1 -377415 Simple 146782703 G . Likely benign 2 2 Dilated cardiomyopathy 1O;not specified 2017-05-19 -5.7 1.0 Likely benign 0 -377448 Simple 200743857 A . Likely benign 2 2 not specified 2017-05-23 -6.0 0.5 Likely benign 0 -377470 Simple 190102899 T . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-02-15 -8.4 1.5 Benign/Likely benign 0 -377473 Simple 371787039 G . Likely benign 2 2 Long QT syndrome;not specified 2017-03-10 -6.0 0.5 Likely benign 0 -377474 Simple 144548535 A . Benign/Likely benign 2 2 Long QT syndrome;not specified 2016-11-03 -8.4 1.5 Benign/Likely benign 0 -377481 Simple 376376716 G . Benign/Likely benign 2 2 Long QT syndrome;not specified 2016-12-11 -8.4 1.5 Benign/Likely benign 0 -377484 Simple 770107349 T . Uncertain significance 2 2 not specified 2015-11-06 -0.54 2.0 Uncertain significance 0 -377485 Simple 201625904 A . Uncertain significance 2 2 not specified 2016-06-01 -0.5700000000000001 1.5 Uncertain significance 0 -377490 Simple 529306174 G . Benign/Likely benign 2 5 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -16.5 1.6 Benign/Likely benign 0 -377491 Simple 377494451 A . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-01 -8.7 1.3333333333333333 Benign/Likely benign 1 -377492 Simple 778565823 C . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -11.7 1.0 Benign/Likely benign 1 -377494 Simple 746180965 G . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-07-14 -11.100000000000001 1.6666666666666667 Benign/Likely benign 0 -377495 Simple 1057520223 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2016-11-10 -0.54 2.0 Uncertain significance 0 -377507 Simple 1057520227 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-05-16 -5.7 1.0 Likely benign 0 -377509 Simple 144145128 C . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-02-26 -10.8 2.0 Benign/Likely benign 0 -377511 Simple 925487325 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -8.7 1.0 Benign/Likely benign 1 -377513 Simple 760704159 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-06 -6.0 0.5 Likely benign 0 -377521 Simple 540266635 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-04-20 -6.0 0.5 Likely benign 0 -377530 Simple 199621678 C . Benign/Likely benign 2 2 Familial hemiplegic migraine;not specified 2017-02-02 -9.0 1.0 Benign/Likely benign 0 -377531 Simple 150785666 A . Uncertain significance 2 2 Dystonia 12;not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -377537 Simple 142998552 T . Benign/Likely benign 2 2 Menkes kinky-hair syndrome;Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;not specified 2017-04-29 -8.7 1.0 Benign/Likely benign 0 -377540 Simple 145208407 T . Likely benign 2 2 3-Methylglutaconic aciduria;not specified 2017-08-04 -6.0 0.5 Likely benign 0 -377542 Simple 767834824 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-02-24 -6.0 1.0 Likely benign 0 -377545 Simple 371691797 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-27 -6.0 0.0 Likely benign 0 -377546 Simple 150292240 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-05 -6.0 0.0 Likely benign 0 -377548 Simple 372083121 T . Benign/Likely benign 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-08-07 -8.4 1.0 Benign/Likely benign 0 -377550 Simple 147277075 A . Benign 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -377553 Simple 748511245 C . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -11.4 1.25 Benign/Likely benign 1 -377554 Simple 756803590 G . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -8.7 1.0 Benign/Likely benign 1 -377556 Simple 1057520238 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -9.0 0.6666666666666666 Benign/Likely benign 1 -377566 Simple 200642188 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-14 -9.0 0.6666666666666666 Benign/Likely benign 1 -377569 Simple 956143558 A . Benign/Likely benign 2 3 not specified;Rasopathy 2017-06-30 -14.4 0.6666666666666666 Benign/Likely benign 0 -377570 Simple 1057520244 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -6.0 0.5 Likely benign 0 -377571 Simple 1057520245 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -5.7 1.5 Likely benign 0 -377572 Simple 373686790 A . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.1 1.0 Benign/Likely benign 1 -377576 Simple 1057520247 T . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -9.0 0.6666666666666666 Benign/Likely benign 1 -377577 Simple 567889781 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-09-12 -6.0 0.0 Likely benign 0 -377578 Simple 1057520248 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -6.0 1.0 Likely benign 0 -377580 Simple 779418629 A . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-18 -5.7 1.0 Likely benign 0 -377581 Simple 757731214 T . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.2 Benign/Likely benign 1 -377582 Simple 1057520250 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -6.0 1.0 Likely benign 0 -377584 Simple 752544229 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-08-25 -6.0 0.0 Likely benign 0 -377587 Simple 373436334 T . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-11-17 -11.4 1.3333333333333333 Benign/Likely benign 0 -377593 Simple 985465808 C . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -11.7 0.5 Benign/Likely benign 1 -377610 Simple 756717724 T . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-01-12 -8.4 1.5 Benign/Likely benign 0 -377613 Simple 200638007 A . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-07-27 -8.7 1.0 Benign/Likely benign 0 -377616 Simple 374843203 T . Benign/Likely benign 2 2 Long QT syndrome;not specified 2016-10-10 -9.0 1.0 Benign/Likely benign 0 -377637 Simple 1057520261 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-28 -5.7 1.5 Likely benign 0 -377638 Simple 780297063 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -11.4 1.25 Benign/Likely benign 1 -377639 Simple 201227194 T . Likely benign 2 2 Hereditary diffuse gastric cancer;not specified 2016-07-12 -6.0 1.0 Likely benign 0 -377643 Simple 3211622 T . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-09-15 -8.100000000000001 2.0 Likely benign 1 -377659 Simple 774973319 C . Likely benign 2 2 Familial cancer of breast;not specified 2016-11-06 -6.0 1.0 Likely benign 0 -377660 Simple 1057520268 G . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -8.7 0.6666666666666666 Benign/Likely benign 1 -377665 Simple 143536618 A . Benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-04-27 -11.4 1.0 Benign/Likely benign 1 -377669 Simple 113080067 A . Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-06-01 -6.0 0.5 Likely benign 0 -377670 Simple 140239470 A . Benign/Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2016-11-17 -8.4 1.5 Benign/Likely benign 0 -377683 Simple 7368151 C . Benign 2 2 not specified 2017-07-26 -11.4 1.0 Benign/Likely benign 1 -377694 Simple 374577694 A . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-06-13 -8.4 1.0 Benign/Likely benign 0 -377698 Simple 374597781 T . Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-05-24 -6.0 1.0 Likely benign 0 -377709 Simple 187552025 T . Likely benign 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2016-04-13 -6.0 1.0 Likely benign 0 -377714 Simple 146206159 A . Likely benign 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-08-01 -6.0 0.5 Likely benign 0 -377721 Simple 371941850 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-03-28 -8.4 1.0 Benign/Likely benign 0 -377722 Simple 201556585 A . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-08-01 -5.7 1.0 Likely benign 0 -377735 Simple 373495598 G . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2016-05-09 -5.7 1.5 Likely benign 0 -377736 Simple 760946138 C . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2016-07-26 -5.7 1.5 Likely benign 0 -377738 Simple 142857608 G . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-01-26 -6.0 1.0 Likely benign 0 -377754 Simple 61731906 A . Benign/Likely benign 2 2 Carnitine palmitoyl transferase 1 deficiency;not specified 2016-10-03 -8.7 1.5 Benign/Likely benign 0 -377759 Simple 776128996 A . Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-03-29 -6.0 0.5 Likely benign 0 -377761 Simple 371747998 T . Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-09-09 -6.0 1.0 Likely benign 0 -377773 Simple 3764764 T . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2016-06-11 -9.0 1.0 Benign/Likely benign 0 -377775 Simple 151013182 T . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-03-16 -9.0 0.5 Benign/Likely benign 0 -377778 Simple 62623378 G . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -377779 Simple 116719245 T . Likely benign 2 2 not specified;Spinal muscular atrophy, distal, autosomal recessive, 5 2017-10-27 -6.0 0.0 Likely benign 0 -377780 Simple 140805390 T . Likely benign 2 2 not specified;Spinal muscular atrophy, distal, autosomal recessive, 5 2017-06-08 -6.0 0.5 Likely benign 0 -377781 Simple 113207069 T . Benign/Likely benign 2 3 Neuronal ceroid lipofuscinosis;not specified 2017-04-17 -14.4 0.6666666666666666 Benign/Likely benign 0 -377790 Simple 149271718 A . Benign/Likely benign 2 2 Hereditary sensory neuropathy type IE;not specified 2017-07-14 -9.0 0.5 Benign/Likely benign 0 -377794 Simple 114833839 A . Benign 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -377795 Simple 113175936 A . Benign 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -377805 Simple 776516070 A . Benign/Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -377810 Simple 757848395 T . Likely benign 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2016-05-10 -6.0 1.0 Likely benign 0 -377816 Simple 138418906 T . Benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-17 -12.0 0.5 Benign/Likely benign 1 -377819 Simple 17512783 A . Benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -377821 Simple 17512877 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-06-07 -9.0 0.0 Benign/Likely benign 0 -377823 Simple 144202114 A . Benign/Likely benign 2 3 Dysferlinopathy;not specified 2017-06-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -377829 Simple 946076987 T . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-05-24 -0.6 0.0 Uncertain significance 0 -377837 Simple 78314670 A . Benign 2 2 Hereditary sensory and autonomic neuropathy type IIB;not specified 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -377840 Simple 148616725 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-11-29 -8.4 1.5 Benign/Likely benign 0 -377847 Simple 766079351 C . Likely benign 2 2 Fanconi anemia;not specified 2017-06-22 -6.0 0.0 Likely benign 0 -377850 Simple 73718083 A . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 14 2017-07-03 -11.4 1.0 Benign/Likely benign 1 -377855 Simple 2710555 T . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -377856 Simple 375450755 G . Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-06-13 -6.0 0.5 Likely benign 0 -377858 Simple 149133920 G . Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-12-19 -6.0 1.0 Likely benign 0 -377859 Simple 374629233 A . Benign/Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-09-02 -8.4 1.5 Benign/Likely benign 0 -377863 Simple 376119827 T . Benign/Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-05-09 -8.4 1.5 Benign/Likely benign 0 -377885 Simple 200258756 T . Benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-03 -11.4 1.0 Benign/Likely benign 1 -377886 Simple 367979917 A . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-03-12 -9.0 0.5 Benign/Likely benign 0 -377891 Simple 1057520285 C . Likely benign 2 2 Cerebral folate deficiency;not specified 2016-12-15 -5.7 1.5 Likely benign 0 -377908 Simple 760366501 A . Likely benign 2 2 Cerebral creatine deficiency syndrome;not specified 2017-05-08 -5.7 1.0 Likely benign 0 -377913 Simple 190132116 A . Benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-06-05 -12.0 0.5 Benign/Likely benign 1 -377917 Simple 200639270 A . Pathogenic/Likely pathogenic 2 2 Glutaric aciduria, type 1;not provided 2017-01-11 9.0 1.0 Pathogenic/Likely pathogenic 0 -377929 Simple 145772886 A . Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2017-08-15 -6.0 0.5 Likely benign 0 -377930 Simple 150381512 G . Benign/Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2017-07-27 -8.4 1.0 Benign/Likely benign 0 -377936 Simple 201002710 A . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-03-15 -8.4 1.0 Benign/Likely benign 0 -377937 Simple 144572467 T . Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-05-16 -6.0 0.5 Likely benign 0 -377941 Simple 748291723 A . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2016-11-30 -8.4 1.5 Benign/Likely benign 0 -377942 Simple 80138441 C . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-06-08 -8.4 1.0 Benign/Likely benign 0 -377945 Simple 202102041 A . Likely benign 2 2 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-04-15 -6.0 0.5 Likely benign 0 -377953 Simple 749161732 G . Likely benign 2 2 Long QT syndrome;not specified 2017-01-12 -6.0 1.0 Likely benign 0 -377956 Simple 143518632 A . Benign 2 2 Long QT syndrome;not specified 2017-07-26 -11.4 1.0 Benign/Likely benign 1 -377965 Simple 1057520291 T . Pathogenic 2 2 not provided 2017-06-28 12.0 0.5 Pathogenic/Likely pathogenic 1 -377966 Simple 112986697 A . Likely benign 2 2 not specified 2016-08-09 -6.0 1.0 Likely benign 0 -377969 Simple 145369859 T . Benign/Likely benign 2 2 not specified 2017-05-17 -9.0 0.5 Benign/Likely benign 0 -377976 Simple 11567704 T . Benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-07-10 -11.4 1.0 Benign/Likely benign 1 -377991 Simple 144838667 C . Benign/Likely benign 2 2 Koolen-de Vries syndrome;not specified 2017-06-19 -8.4 1.0 Benign/Likely benign 0 -377992 Simple 117412152 T . Benign/Likely benign 2 2 Koolen-de Vries syndrome;not specified 2017-06-27 -9.0 0.0 Benign/Likely benign 0 -377996 Simple 201420126 C . Benign 2 2 Nemaline myopathy 6;not specified 2017-07-10 -11.4 1.0 Benign/Likely benign 1 -378001 Simple 144495959 T . Benign/Likely benign 2 3 SeSAME syndrome;not specified 2017-05-25 -11.4 1.0 Benign/Likely benign 0 -378003 Simple 372774976 C . Likely benign 2 2 SeSAME syndrome;not specified 2017-06-16 -5.7 1.0 Likely benign 0 -378004 Simple 141965142 T . Likely benign 2 2 Andersen Tawil syndrome;Short QT syndrome 3;not specified 2017-03-07 -6.0 0.5 Likely benign 0 -378010 Simple 968695655 A . Likely benign 2 2 Long QT syndrome;not specified 2017-10-30 -6.0 0.0 Likely benign 0 -378018 Simple 144985256 A . Benign 2 2 Long QT syndrome;not specified 2017-06-14 -11.4 1.0 Benign/Likely benign 1 -378023 Simple 201556105 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-28 -6.0 0.5 Likely benign 0 -378031 Simple 376327268 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-01-10 -5.7 1.5 Likely benign 0 -378038 Simple 74533482 G . Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-07-21 -9.0 0.0 Benign/Likely benign 1 -378043 Simple 375180690 A . Likely benign 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-07-26 -6.0 0.5 Likely benign 0 -378055 Simple 138847355 A . Benign/Likely benign 2 2 not specified;not provided 2017-04-19 -8.4 1.0 Benign/Likely benign 0 -378065 Simple 2275135 T . Likely benign 2 2 not specified 2017-05-31 -6.0 0.5 Likely benign 0 -378068 Simple 73658916 T . Benign/Likely benign 2 2 not specified;not provided 2017-02-22 -9.0 1.0 Benign/Likely benign 0 -378069 Simple 140540789 A . Benign/Likely benign 2 2 not specified 2016-10-05 -8.4 1.5 Benign/Likely benign 0 -378084 Simple 140921822 C . Benign/Likely benign 2 2 not specified;Pyruvate dehydrogenase lipoic acid synthetase deficiency 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -378088 Simple 369823958 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-09 -8.4 1.0 Benign/Likely benign 0 -378091 Simple 147615538 A . Uncertain significance 2 2 Majeed syndrome;not specified 2017-07-10 -0.6 0.0 Uncertain significance 0 -378094 Simple 143702044 T . Benign/Likely benign 2 2 not specified 2017-05-09 -9.0 0.5 Benign/Likely benign 0 -378108 Simple 201726622 A . Likely benign 3 2 not specified;Rasopathy 2017-05-09 -9.3 0.5 Benign/Likely benign 1 -378114 Simple 138433455 G . Benign/Likely benign 2 2 not specified 2016-02-01 -8.100000000000001 2.0 Likely benign 1 -378128 Simple 374324656 A . Benign 2 2 FG syndrome;not specified 2017-07-25 -11.4 1.0 Benign/Likely benign 1 -378132 Simple 104895100 G . Likely benign 2 2 Familial Mediterranean fever;not specified 2017-07-27 -6.0 0.0 Likely benign 0 -378138 Simple 148864710 C . Likely benign 2 2 Ceroid lipofuscinosis neuronal 7;not specified 2017-08-01 -6.0 0.5 Likely benign 0 -378141 Simple 746800098 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -9.0 0.3333333333333333 Benign/Likely benign 1 -378143 Simple 765913871 T . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-23 -6.0 0.0 Likely benign 0 -378144 Simple 1800145 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-11 -11.7 0.75 Benign/Likely benign 1 -378148 Simple 555482480 A . Likely benign 2 2 Deficiency of malonyl-CoA decarboxylase;not specified 2016-11-21 -6.0 1.0 Likely benign 0 -378154 Simple 267607916 T . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -378156 Simple 1057520316 G . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-27 -8.7 1.0 Benign/Likely benign 1 -378157 Simple 561680100 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-10 -12.0 0.25 Benign/Likely benign 1 -378162 Simple 372091232 G . Likely benign 2 2 Lynch syndrome;not specified 2016-09-20 -6.0 1.0 Likely benign 0 -378163 Simple 1057520319 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -8.7 1.0 Benign/Likely benign 1 -378164 Simple 1057520320 C . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-08 -11.100000000000001 1.5 Benign/Likely benign 1 -378165 Simple 984907158 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-09 -8.7 1.0 Benign/Likely benign 1 -378166 Simple 1057520322 T . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -8.7 1.0 Benign/Likely benign 1 -378170 Simple 1057520326 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-22 -6.0 1.0 Likely benign 0 -378178 Simple 139217290 A . Benign 2 2 not specified 2016-11-04 -11.4 1.5 Benign/Likely benign 1 -378180 Simple 17855116 T . Benign/Likely benign 2 2 not specified 2017-03-03 -8.4 1.5 Benign/Likely benign 0 -378184 Simple 143091801 G . Likely benign 2 2 MYH-associated polyposis;not specified 2017-04-07 -5.7 1.0 Likely benign 0 -378188 Simple 777418402 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-12-01 -6.0 1.0 Likely benign 0 -378192 Simple 367947846 A . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-03-17 -8.4 1.0 Benign/Likely benign 0 -378202 Simple 113089286 T . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-08-08 -8.4 1.0 Benign/Likely benign 0 -378204 Simple 149980738 T . Benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-07-18 -12.0 0.5 Benign/Likely benign 1 -378205 Simple 150712107 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-09-20 -6.0 0.5 Likely benign 0 -378207 Simple 200223639 A . Benign/Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2016-05-30 -9.0 1.0 Benign/Likely benign 0 -378213 Simple 372476972 A . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-05-07 -8.4 1.5 Benign/Likely benign 0 -378214 Simple 139928934 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-08-04 -6.0 0.5 Likely benign 0 -378215 Simple 753392652 T . Pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-04-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -378218 Simple 373241541 T . Benign 2 2 Familial hypertrophic cardiomyopathy 10;not specified 2016-10-29 -11.4 1.5 Benign/Likely benign 1 -378219 Simple 138567316 G . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-06 -6.0 0.5 Likely benign 0 -378226 Simple 202183926 T . Benign 2 2 not specified;Dilated cardiomyopathy 1KK 2017-03-28 -11.4 1.0 Benign/Likely benign 1 -378234 Simple 746913991 G . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -8.7 1.0 Benign/Likely benign 1 -378235 Simple 566091759 A . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-02-12 -8.7 1.3333333333333333 Benign/Likely benign 1 -378237 Simple 778364604 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-03-23 -8.7 1.3333333333333333 Benign/Likely benign 1 -378265 Simple 371630900 C . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2016-10-25 -8.4 1.5 Benign/Likely benign 0 -378269 Simple 192402741 C . Likely benign 2 3 Nemaline myopathy 2;not specified 2017-06-15 -8.7 0.6666666666666666 Benign/Likely benign 1 -378272 Simple 35270667 A . Benign 2 2 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;not specified 2017-06-21 -11.4 1.0 Benign/Likely benign 1 -378275 Simple 374150672 C . Likely benign 2 2 Atrial septal defect 7 with or without atrioventricular conduction defects;not specified 2017-06-14 -6.0 0.5 Likely benign 0 -378287 Simple 200448187 A . Benign/Likely benign 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-05-26 -8.4 1.0 Benign/Likely benign 0 -378301 Simple 201135028 G . Likely benign 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-06-20 -6.0 0.5 Likely benign 0 -378304 Simple 1057520339 T . Pathogenic 2 2 Beckwith-Wiedemann syndrome;not provided 2016-12-22 12.0 1.0 Pathogenic/Likely pathogenic 1 -378306 Simple 150271893 A . Uncertain significance 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-06-12 -0.6 0.5 Uncertain significance 0 -378307 Simple 147882947 T . Likely benign 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-06-05 -6.0 0.5 Likely benign 0 -378308 Simple 140247189 A . Likely benign 2 2 not specified;not provided 2017-08-04 -6.0 0.0 Likely benign 0 -378317 Simple 730881874 T . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -12.0 0.5 Benign/Likely benign 1 -378318 Simple 373796987 C . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -9.0 0.0 Benign/Likely benign 1 -378320 Simple 1057520342 C . Likely benign 2 2 Familial cancer of breast;not specified 2017-10-31 -6.0 0.5 Likely benign 0 -378321 Simple 730881896 G . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -9.0 0.3333333333333333 Benign/Likely benign 1 -378350 Simple 528843301 T . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified;Hypertrophic cardiomyopathy 2017-07-31 -0.6 0.0 Uncertain significance 0 -378364 Simple 147316771 G . Uncertain significance 2 2 not specified;Hyperphosphatasia with mental retardation syndrome 2 2017-06-15 -0.6 0.0 Uncertain significance 0 -378368 Simple 148364390 A . Benign/Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-03-15 -8.4 1.0 Benign/Likely benign 0 -378370 Simple 142805337 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-12-12 -12.0 1.0 Benign/Likely benign 0 -378374 Simple 202049535 C . Benign 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-07-20 -11.4 1.0 Benign/Likely benign 1 -378376 Simple 376823275 T . Likely benign 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-07-12 -6.0 0.5 Likely benign 0 -378377 Simple 200641225 T . Uncertain significance 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-05-24 -0.6 0.5 Uncertain significance 0 -378379 Simple 74361095 A . Benign 2 2 Charcot-Marie-Tooth disease, type I;not specified 2017-05-29 -11.4 1.0 Benign/Likely benign 1 -378397 Simple 141969535 T . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-02-22 -8.4 1.5 Benign/Likely benign 0 -378410 Simple 772461291 A . Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-06-07 -6.0 0.0 Likely benign 0 -378413 Simple 779515404 A . Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-08-25 -6.0 0.0 Likely benign 0 -378415 Simple 752500492 A . Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-09-29 -6.0 0.0 Likely benign 0 -378417 Simple 374937961 A . Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-04-29 -6.0 0.5 Likely benign 0 -378422 Simple 571386763 G . Benign/Likely benign 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2016-11-25 -9.0 1.0 Benign/Likely benign 0 -378428 Simple 201735117 A . Benign 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2017-02-09 -11.4 1.5 Benign/Likely benign 1 -378435 Simple 61733450 T . Benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-17 -11.4 1.0 Benign/Likely benign 1 -378444 Simple 17612648 G . Benign/Likely benign 2 3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-06-13 -14.4 1.0 Benign/Likely benign 0 -378445 Simple 79141749 G . Benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -378448 Simple 1058191 C . Benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -378452 Simple 762485949 A . Benign/Likely benign 2 2 Martsolf syndrome;Warburg micro syndrome 2;not specified 2017-05-08 -8.4 1.0 Benign/Likely benign 0 -378454 Simple 2230919 A . Benign 2 3 Neutrophil immunodeficiency syndrome;not specified 2017-07-07 -17.4 1.0 Benign/Likely benign 1 -378471 Simple 760605118 T . Likely benign 2 2 Dilated cardiomyopathy 1DD;not specified 2016-10-25 -6.0 1.0 Likely benign 0 -378472 Simple 374014662 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1DD;not specified 2017-04-26 -8.4 1.0 Benign/Likely benign 0 -378473 Simple 375626512 A . Likely benign 2 2 Dilated cardiomyopathy 1DD;not specified 2017-08-15 -6.0 0.5 Likely benign 0 -378484 Simple 150705689 G . Benign/Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-05-23 -9.0 0.5 Benign/Likely benign 0 -378486 Simple 566157997 A . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-13 -6.0 0.0 Likely benign 0 -378491 Simple 767679867 A . Benign/Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-04 -8.4 1.0 Benign/Likely benign 0 -378499 Simple 73410819 G . Benign/Likely benign 2 2 not specified;not provided 2017-09-06 -8.4 1.0 Benign/Likely benign 0 -378502 Simple 200507087 C . Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2017-04-11 -6.0 0.5 Likely benign 0 -378504 Simple 141208366 G . Benign/Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2017-04-25 -8.4 1.0 Benign/Likely benign 0 -378520 Simple 200339565 T . Benign/Likely benign 2 2 Brugada syndrome 5;not specified 2016-08-24 -8.4 1.5 Benign/Likely benign 0 -378523 Simple 757533588 G . Likely benign 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2017-01-23 -6.0 1.0 Likely benign 0 -378525 Simple 113191507 G . Likely benign 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2017-03-26 -6.0 0.5 Likely benign 0 -378530 Simple 552318566 A . Benign/Likely benign 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2017-06-27 -8.4 1.0 Benign/Likely benign 0 -378531 Simple 138143967 C . Likely benign 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2016-11-01 -5.7 1.5 Likely benign 0 -378534 Simple 200553623 T . Benign/Likely benign 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2017-08-24 -9.0 0.0 Benign/Likely benign 0 -378537 Simple 72546675 A . Benign 2 2 Long QT syndrome 10;not specified 2017-05-03 -12.0 0.5 Benign/Likely benign 1 -378539 Simple 779310644 C . Likely benign 2 2 Brugada syndrome;not specified 2017-04-20 -6.0 0.5 Likely benign 0 -378543 Simple 764425131 T . Likely benign 2 2 Brugada syndrome;not specified 2017-09-15 -6.0 0.0 Likely benign 0 -378546 Simple 764462471 T . Benign/Likely benign 2 2 Brugada syndrome;not specified 2017-04-22 -8.4 1.0 Benign/Likely benign 0 -378551 Simple 372629753 T . Benign/Likely benign 2 2 Brugada syndrome;not specified 2017-05-16 -8.4 1.0 Benign/Likely benign 0 -378563 Simple 372388512 T . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-04-03 -11.4 1.0 Benign/Likely benign 1 -378566 Simple 201430964 A . Likely benign 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-06-28 -6.0 0.5 Likely benign 0 -378578 Simple 144016931 A . Benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-05-16 -11.4 1.0 Benign/Likely benign 1 -378579 Simple 115507662 C . Benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-17 -12.0 0.5 Benign/Likely benign 1 -378583 Simple 185551386 A . Pathogenic/Likely pathogenic 2 2 Renal carnitine transport defect;not provided 2017-03-27 9.0 0.5 Pathogenic/Likely pathogenic 0 -378592 Simple 369276282 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-06 -6.0 0.5 Likely benign 0 -378598 Simple 73419912 T . Likely benign 2 2 not specified;not provided 2017-09-25 -5.7 1.0 Likely benign 0 -378600 Simple 199967429 T . Benign/Likely benign 2 3 Arterial tortuosity syndrome;not specified 2017-05-26 -11.4 1.0 Benign/Likely benign 0 -378604 Simple 373084446 T . Likely benign 2 2 GLUT1 deficiency syndrome 1, autosomal recessive;not specified 2016-11-08 -6.0 1.0 Likely benign 0 -378605 Simple 539490455 A . Likely benign 2 2 not specified 2017-02-08 -5.7 1.5 Likely benign 0 -378610 Simple 144685583 T . Benign/Likely benign 2 2 GLUT1 deficiency syndrome 1, autosomal recessive;not specified 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -378616 Simple 145438966 G . Benign 2 2 Creatine deficiency, X-linked;not specified 2016-12-05 -12.0 1.0 Benign/Likely benign 1 -378625 Simple 776523203 C . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -9.0 0.3333333333333333 Benign/Likely benign 1 -378630 Simple 552315106 A . Benign 2 2 Long QT syndrome;not specified 2017-06-13 -12.0 0.5 Benign/Likely benign 1 -378631 Simple 34901081 T . Benign/Likely benign 2 2 Long QT syndrome;not specified 2017-03-07 -9.0 0.5 Benign/Likely benign 0 -378640 Simple 371986686 T . Likely benign 2 2 Spastic paraplegia 7;not specified 2016-08-31 -6.0 1.0 Likely benign 0 -378645 Simple 371017342 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-03-07 -6.0 0.5 Likely benign 0 -378648 Simple 376280897 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-03-07 -6.0 0.5 Likely benign 0 -378662 Simple 140418358 T . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-01 -8.4 1.0 Benign/Likely benign 0 -378667 Simple 375649697 A . Benign/Likely benign 2 2 not specified 2016-10-17 -8.4 1.5 Benign/Likely benign 0 -378670 Simple 139514583 A . Benign/Likely benign 2 2 not specified 2015-11-19 -8.100000000000001 2.0 Likely benign 1 -378674 Simple 778468876 T . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -11.4 0.6666666666666666 Benign/Likely benign 0 -378677 Simple 373021819 T . Benign/Likely benign 2 2 Peutz-Jeghers syndrome;not specified 2017-04-03 -8.4 1.0 Benign/Likely benign 0 -378679 Simple 757276643 T . Benign/Likely benign 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-26 -11.4 1.0 Benign/Likely benign 0 -378688 Simple 369625158 G . Benign/Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 2017-04-21 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -378698 Simple 41270349 A . Benign/Likely benign 2 2 not specified 2016-11-08 -9.0 1.0 Benign/Likely benign 0 -378703 Simple 182825122 A . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-06-27 -6.0 0.5 Likely benign 0 -378704 Simple 778459711 T . Benign/Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-08-09 -8.4 1.0 Benign/Likely benign 0 -378706 Simple 202216463 A . Benign/Likely benign 2 3 Epileptic encephalopathy, early infantile, 1;not specified;not provided;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24 2017-09-01 -12.0 0.3333333333333333 Benign/Likely benign 0 -378719 Simple 115896544 C . Benign 2 2 Neuropathy, hereditary motor and sensory, Okinawa type;not specified;Spastic paraplegia 57, autosomal recessive 2017-08-04 -11.4 1.0 Benign/Likely benign 1 -378720 Simple 35648279 A . Benign 2 2 Neuropathy, hereditary motor and sensory, Okinawa type;not specified;Spastic paraplegia 57, autosomal recessive 2017-08-03 -11.4 1.0 Benign/Likely benign 1 -378721 Simple 140669729 A . Benign 2 2 Neuropathy, hereditary motor and sensory, Okinawa type;not specified;Spastic paraplegia 57, autosomal recessive 2017-07-05 -11.4 1.0 Benign/Likely benign 1 -378722 Simple 41272979 T . Benign 2 2 Neuropathy, hereditary motor and sensory, Okinawa type;not specified;Spastic paraplegia 57, autosomal recessive 2017-08-03 -11.4 1.0 Benign/Likely benign 1 -378741 Simple 200283086 T . Benign/Likely benign 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-08-02 -8.4 1.0 Benign/Likely benign 0 -378746 Simple 772829199 T . Likely benign 2 2 Li-Fraumeni syndrome;not specified 2017-10-13 -6.0 0.0 Likely benign 0 -378749 Simple 374563216 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-23 -5.7 1.0 Likely benign 0 -378763 Simple 149988106 T . Likely benign 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2017-06-26 -6.0 0.0 Likely benign 0 -378765 Simple 768158324 T . Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-08-03 -6.0 0.5 Likely benign 0 -378766 Simple 771217333 A . Likely benign 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2016-10-14 -9.0 1.0 Benign/Likely benign 1 -378768 Simple 759047948 A . Likely benign 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -8.7 1.0 Benign/Likely benign 1 -378769 Simple 568004490 C . Benign 2 2 Tuberous sclerosis 1;not specified 2017-05-24 -11.4 1.0 Benign/Likely benign 1 -378773 Simple 45468201 A . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-10-17 -6.0 0.5 Likely benign 0 -378774 Simple 201704675 T . Likely benign 2 2 not specified;not provided 2017-08-24 -6.0 0.5 Likely benign 0 -378776 Simple 753764275 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -378779 Simple 111244727 G . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -8.7 0.6666666666666666 Benign/Likely benign 1 -378780 Simple 570409651 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -12.0 0.6666666666666666 Benign/Likely benign 0 -378781 Simple 777665839 T . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -8.7 1.0 Benign/Likely benign 1 -378786 Simple 36078782 A . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -8.7 1.0 Benign/Likely benign 1 -378787 Simple 199742312 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-22 -6.0 1.0 Likely benign 0 -378789 Simple 528080018 T . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-02 -5.7 1.0 Likely benign 0 -378791 Simple 368534883 T . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -9.0 0.3333333333333333 Benign/Likely benign 1 -378793 Simple 45483700 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -11.100000000000001 1.3333333333333333 Benign/Likely benign 0 -378794 Simple 374674097 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-26 -8.4 1.0 Benign/Likely benign 0 -378798 Simple 372346898 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-17 -5.7 1.0 Likely benign 0 -378810 Simple 375408527 C . Benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-09 -11.4 1.0 Benign/Likely benign 1 -378816 Simple 367958537 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-07 -9.0 0.0 Benign/Likely benign 0 -378820 Simple 368783829 C . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-02 -8.4 1.0 Benign/Likely benign 0 -378821 Simple 372725070 C . Benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-20 -17.4 0.6666666666666666 Benign/Likely benign 1 -378825 Simple 777602537 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-16 -5.7 1.0 Likely benign 0 -378826 Simple 72648230 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-10 -8.4 1.5 Benign/Likely benign 0 -378828 Simple 373311745 G . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -378831 Simple 72648269 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-10-26 -6.0 1.0 Likely benign 0 -378832 Simple 369619711 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-14 -9.0 0.5 Benign/Likely benign 0 -378833 Simple 546048021 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-14 -6.0 0.5 Likely benign 0 -378838 Simple 55762744 T . Benign/Likely benign 2 2 Tyrosine kinase 2 deficiency;not specified 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -378849 Simple 370860265 C . Likely benign 2 2 Dilated cardiomyopathy 1W;not specified 2017-04-03 -6.0 0.5 Likely benign 0 -378856 Simple 147853760 T . Likely benign 2 2 not specified 2017-01-11 -6.0 1.0 Likely benign 0 -378865 Simple 143357617 G . Benign/Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-09-02 -11.4 1.3333333333333333 Benign/Likely benign 0 -378870 Simple 144184948 C . Likely benign 2 2 Mowat-Wilson syndrome;not specified 2017-07-24 -6.0 0.5 Likely benign 0 -378879 Simple 776282574 G . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-06-29 -6.0 1.0 Likely benign 0 -378882 Simple 139031103 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-03 -5.7 1.5 Likely benign 0 -378891 Simple 768570301 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-07-28 -9.0 0.0 Benign/Likely benign 0 -378899 Simple 763063602 A . Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-02-08 -5.7 1.5 Likely benign 0 -378909 Simple 766501874 T . Likely benign 2 2 not specified 2017-04-28 -6.0 0.5 Likely benign 0 -378913 Simple 543217722 T . Likely benign 3 2 not specified;Rasopathy 2017-05-09 -6.3 0.0 Likely benign 0 -378928 Simple 1057520414 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -6.0 0.5 Likely benign 0 -378931 Simple 368043574 C . Likely benign 2 2 not specified 2016-07-11 -6.0 1.0 Likely benign 0 -378945 Simple 766086010 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-02 -5.1 2.5 Likely benign 0 -378947 Simple 545574962 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-10 -6.0 1.0 Likely benign 0 -378949 Simple 908184283 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-03 -5.7 1.5 Likely benign 0 -378950 Simple 1057520427 C . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-12-30 -8.4 1.6666666666666667 Benign/Likely benign 1 -378956 Simple 201191083 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-24 -6.0 0.0 Likely benign 0 -378957 Simple 768986730 G . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-03-30 -5.7 1.0 Likely benign 0 -378958 Simple 1057520432 T . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.8 Benign/Likely benign 1 -378960 Simple 1057520434 A . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-07-24 -8.7 1.0 Benign/Likely benign 1 -378964 Simple 1057520437 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-20 -6.0 1.0 Likely benign 0 -378966 Simple 1057520439 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-07 -5.7 1.5 Likely benign 0 -378967 Simple 767746584 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-23 -6.0 0.5 Likely benign 0 -378971 Simple 45553636 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -9.0 0.3333333333333333 Benign/Likely benign 1 -378975 Simple 369598262 T . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-09 -8.4 1.6666666666666667 Benign/Likely benign 1 -378978 Simple 757313728 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-08-22 -6.0 0.5 Likely benign 0 -378980 Simple 76364845 C . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-10 -8.4 1.3333333333333333 Benign/Likely benign 1 -378989 Simple 767070325 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -5.7 1.0 Likely benign 0 -378992 Simple 1057520450 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -6.0 1.0 Likely benign 0 -379000 Simple 55845713 A . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -8.7 0.6666666666666666 Benign/Likely benign 1 -379008 Simple 1057520460 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-05-23 -6.0 0.5 Likely benign 0 -379012 Simple 535486498 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -9.3 0.6666666666666666 Benign/Likely benign 1 -379017 Simple 768674294 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-11 -6.0 0.5 Likely benign 0 -379027 Simple 751195930 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -8.7 0.6666666666666666 Benign/Likely benign 1 -379028 Simple 730881759 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-01-16 -8.4 1.6666666666666667 Benign/Likely benign 1 -379029 Simple 751939698 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -8.7 1.0 Benign/Likely benign 1 -379032 Simple 1057520472 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-14 -6.0 1.0 Likely benign 0 -379035 Simple 371875647 A . Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2016-09-15 -12.0 1.0 Benign/Likely benign 1 -379039 Simple 63650860 T . Benign/Likely benign 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -12.0 0.6666666666666666 Benign/Likely benign 0 -379041 Simple 794728527 C . Likely benign 2 2 Long QT syndrome;not specified 2017-06-20 -6.0 0.0 Likely benign 0 -379045 Simple 144925439 T . Likely benign 2 2 Long QT syndrome;not specified 2017-06-15 -5.7 1.0 Likely benign 0 -379048 Simple 367783859 A . Likely benign 2 2 Long QT syndrome;not specified 2017-02-27 -5.7 1.5 Likely benign 0 -379059 Simple 200002286 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-05-01 -6.0 0.5 Likely benign 0 -379060 Simple 1057520482 C . Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-03-31 -6.0 0.5 Likely benign 0 -379076 Simple 41296438 G . Benign/Likely benign 2 3 Severe combined immunodeficiency with sensitivity to ionizing radiation;not specified 2017-08-07 -14.7 1.0 Benign/Likely benign 0 -379081 Simple 141680923 T . Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-03-10 -6.0 0.5 Likely benign 0 -379087 Simple 781542973 G . Likely benign 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -9.0 0.6666666666666666 Benign/Likely benign 1 -379110 Simple 193149108 A . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-08-07 -6.0 0.0 Likely benign 0 -379113 Simple 745994685 G . Likely benign 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-07-13 -6.0 0.5 Likely benign 0 -379123 Simple 45587735 A . Likely benign 2 2 Brugada syndrome;not specified 2017-02-13 -6.0 1.0 Likely benign 0 -379124 Simple 765435155 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-08-22 -6.0 0.0 Likely benign 0 -379125 Simple 751728017 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-01-31 -6.0 1.0 Likely benign 0 -379128 Simple 748764628 A . Likely benign 2 3 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified 2017-05-23 -9.0 0.6666666666666666 Benign/Likely benign 1 -379132 Simple 139215336 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -379135 Simple 376424003 A . Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2016-12-22 -6.0 1.0 Likely benign 0 -379140 Simple 116502459 A . Benign 2 2 Hereditary sensory neuropathy type IE;not specified 2017-07-29 -12.0 0.5 Benign/Likely benign 1 -379145 Simple 1057520507 T . Pathogenic 2 3 Very long chain acyl-CoA dehydrogenase deficiency;not specified;not provided 2017-04-24 17.4 0.6666666666666666 Pathogenic 0 -379152 Simple 183192651 T . Benign/Likely benign 2 2 Long QT syndrome;not specified 2016-06-10 -8.4 1.5 Benign/Likely benign 0 -379156 Simple 1057520512 T . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-12 -6.0 0.5 Likely benign 0 -379162 Simple 1057520515 A . Pathogenic 2 2 Lissencephaly 1;not provided 2016-09-21 11.4 1.5 Pathogenic/Likely pathogenic 1 -379171 Simple 398122678 T . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -8.7 0.6666666666666666 Benign/Likely benign 1 -379188 Simple 529715710 C . Likely benign 2 2 Mental retardation, autosomal dominant 1;not specified 2016-11-17 -6.0 1.0 Likely benign 0 -379190 Simple 1057520520 C . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -379197 Simple 1057520521 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -6.0 0.5 Likely benign 0 -379200 Simple 748603803 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-10 -12.0 0.25 Benign/Likely benign 1 -379204 Simple 36008495 A . Benign 2 2 Spastic paraplegia 31, autosomal dominant;not specified 2017-06-12 -11.4 1.0 Benign/Likely benign 1 -379208 Simple 753874439 T . Pathogenic/Likely pathogenic 2 2 not provided;Anauxetic dysplasia 2017-08-02 8.4 1.0 Pathogenic/Likely pathogenic 0 -379226 Simple 183427173 T . Uncertain significance 2 2 Long QT syndrome 6;not specified 2017-02-13 -0.6 1.0 Uncertain significance 0 -379231 Simple 375145370 C . Pathogenic 2 3 Nemaline myopathy 2;not provided 2017-11-15 18.0 0.3333333333333333 Pathogenic 0 -379270 Simple 368689290 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-25 -6.0 0.0 Likely benign 0 -379280 Simple 1057520553 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -5.7 1.0 Likely benign 0 -379301 Simple 1057520563 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-11-06 -6.0 0.5 Likely benign 0 -379302 Simple 368869126 T . Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2017-05-01 -5.7 1.0 Likely benign 0 -379338 Simple 200871433 T . Uncertain significance 2 3 Hereditary sensory and autonomic neuropathy type IIB;not specified 2017-06-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -379339 Simple 149788020 A . Benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-02-02 -11.4 1.5 Benign/Likely benign 1 -379342 Simple 1057520579 A . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 1, X-linked;not specified 2017-06-23 -0.6 0.5 Uncertain significance 0 -379343 Simple 539149173 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-02-16 -5.7 1.5 Likely benign 0 -379356 Simple 199871750 A . Likely benign 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-07-19 -6.0 0.5 Likely benign 0 -379374 Simple 1057520590 G . Pathogenic 2 2 Gorlin syndrome;not provided 2017-02-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -379380 Simple 142893042 A . Benign/Likely benign 2 2 not specified 2016-12-09 -9.0 1.0 Benign/Likely benign 0 -379386 Simple 1132812 G . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -379398 Simple 190690083 T . Benign/Likely benign 2 2 Creatine deficiency, X-linked;not specified 2017-06-02 -9.0 0.5 Benign/Likely benign 0 -379401 Simple 2314070 A . Likely benign 2 2 Creatine deficiency, X-linked;not specified 2016-09-13 -6.0 1.0 Likely benign 0 -379419 Simple 1808140 C . Benign 2 2 not specified;Joubert syndrome 21 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -379420 Simple 72989738 G . Benign 2 4 Jeune thoracic dystrophy;not specified 2017-07-27 -24.0 0.75 Benign 0 -379426 Simple 8178046 A . Benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -379427 Simple 138064933 T . Benign/Likely benign 2 3 Creatine deficiency, X-linked;not specified 2017-06-08 -11.7 0.6666666666666666 Benign/Likely benign 0 -379430 Simple 200328638 C . Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-05-08 -5.7 1.0 Likely benign 0 -379431 Simple 181470846 G . Benign/Likely benign 2 3 not specified;Joubert syndrome 21 2017-05-30 -15.0 0.6666666666666666 Benign/Likely benign 0 -379433 Simple 1800215 T . Benign 2 2 Osteogenesis imperfecta type I;not specified 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -379434 Simple 144252036 T . Benign/Likely benign 2 2 Creatine deficiency, X-linked;not specified 2016-12-23 -9.0 1.0 Benign/Likely benign 0 -379436 Simple 3741596 G . Benign 2 2 Immune dysfunction with T-cell inactivation due to calcium entry defect 1;not specified;Myopathy, tubular aggregate, 2 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -379437 Simple 3741597 C . Benign 2 2 Immune dysfunction with T-cell inactivation due to calcium entry defect 1;not specified;Myopathy, tubular aggregate, 2 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -379438 Simple 3825174 C . Benign 2 2 Immune dysfunction with T-cell inactivation due to calcium entry defect 1;not specified;Myopathy, tubular aggregate, 2 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -379439 Simple 6992074 C . Benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-06-21 -12.0 0.5 Benign/Likely benign 1 -379443 Simple 55716016 A . Benign 2 2 Osteogenesis imperfecta type 8;not specified 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -379444 Simple 6700677 T . Benign 2 2 Osteogenesis imperfecta type 8;not specified 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -379446 Simple 146140583 A . Benign/Likely benign 2 2 not specified;Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 2017-08-23 -9.0 0.0 Benign/Likely benign 0 -379448 Simple 199731143 G . Likely benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-09-08 -6.0 0.0 Likely benign 0 -379449 Simple 201349397 T . Likely benign 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-07-11 -6.0 0.0 Likely benign 0 -379451 Simple 1057520598 C . Likely pathogenic 2 2 Long QT syndrome;not provided 2017-04-21 6.0 0.5 Likely pathogenic 0 -379462 Simple 768228902 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-10-17 -6.0 0.0 Likely benign 0 -379498 Simple 1057520621 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -379500 Simple 781280171 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-27 -8.7 1.0 Benign/Likely benign 1 -379502 Simple 770573978 T . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2016-03-04 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -379520 Simple 114906811 T . Benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -379521 Simple 34768188 T . Benign 2 2 not specified;Charcot-Marie-Tooth disease type 2P 2017-06-19 -11.4 1.0 Benign/Likely benign 1 -379550 Simple 1057520640 A . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-04 20.4 1.0 Pathogenic 1 -379551 Simple 774479750 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-13 -9.0 0.3333333333333333 Benign/Likely benign 1 -379553 Simple 138438183 G . Uncertain significance 2 2 Long QT syndrome;not specified 2017-04-10 -0.6 0.5 Uncertain significance 0 -379558 Simple 373795773 T . Likely benign 2 2 not specified 2017-02-08 -6.0 1.0 Likely benign 0 -379565 Simple 730881748 G . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-18 -6.0 0.0 Likely benign 0 -379576 Simple 61730055 G . Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2016-11-04 -6.0 1.0 Likely benign 0 -379579 Simple 761286097 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-08 -6.0 1.0 Likely benign 0 -379588 Simple 148464745 A . Benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-05-23 -11.4 1.0 Benign/Likely benign 1 -379599 Simple 1057520660 T . Pathogenic/Likely pathogenic 2 2 MYH-associated polyposis;not provided 2017-05-11 8.4 1.0 Pathogenic/Likely pathogenic 0 -379621 Simple 45572434 T . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-11-08 -9.0 1.0 Benign/Likely benign 1 -379626 Simple 771317809 T . Pathogenic/Likely pathogenic 2 2 Deficiency of aromatic-L-amino-acid decarboxylase;not provided 2016-10-17 8.4 1.5 Pathogenic/Likely pathogenic 0 -379631 Simple 181279399 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -5.7 1.0 Likely benign 0 -379636 Simple 200227077 A . Benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2016-11-14 -12.0 1.0 Benign/Likely benign 1 -379641 Simple 61747073 T . Benign 2 2 not specified;Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -379642 Simple 7688609 G . Benign/Likely benign 2 2 not specified;Craniosynostosis 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -379643 Simple 61746653 T . Benign 2 2 Osteogenesis imperfecta type 8;not specified 2017-06-19 -12.0 0.5 Benign/Likely benign 1 -379644 Simple 8178060 G . Benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-07-19 -11.4 1.0 Benign/Likely benign 1 -379649 Simple 4278157 A . Benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -379650 Simple 8178225 T . Benign/Likely benign 2 3 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-08-11 -14.7 0.6666666666666666 Benign/Likely benign 0 -379664 Simple 201192125 A . Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-06-08 -6.0 0.5 Likely benign 0 -379671 Simple 371243093 T . Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-09-20 -6.0 0.0 Likely benign 0 -379683 Simple 147312193 A . Benign/Likely benign 2 2 Leigh syndrome;not specified 2017-06-18 -9.0 0.5 Benign/Likely benign 0 -379695 Simple 780163247 A . Likely benign 2 2 not specified 2017-05-01 -6.0 0.5 Likely benign 0 -379703 Simple 1009588340 G . Likely benign 2 2 PTEN hamartoma tumor syndrome;not specified 2016-12-24 -6.0 1.0 Likely benign 0 -379712 Simple 1057520706 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-09 -6.0 0.5 Likely benign 0 -379745 Simple 148046151 C . Likely benign 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-04-20 -6.0 0.0 Likely benign 0 -379749 Simple 573218266 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-02 -6.0 0.5 Likely benign 0 -379751 Simple 147266928 C . Benign/Likely benign 2 2 Osteogenesis imperfecta type I;not specified 2017-10-20 -9.0 0.0 Benign/Likely benign 0 -379752 Simple 8178017 T . Benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -379753 Simple 8178249 A . Benign/Likely benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-09-02 -9.0 0.0 Benign/Likely benign 0 -379755 Simple 8178216 A . Benign/Likely benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -379756 Simple 8178106 A . Benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -379757 Simple 73332405 A . Benign/Likely benign 2 2 not specified;not provided 2017-08-28 -8.4 1.0 Benign/Likely benign 0 -379760 Simple 200144727 C . Benign/Likely benign 2 2 Nephronophthisis;not specified 2016-06-01 -9.0 1.0 Benign/Likely benign 0 -379762 Simple 16822802 T . Benign 2 2 Jeune thoracic dystrophy;Nephronophthisis;not specified 2017-05-02 -12.0 0.5 Benign/Likely benign 1 -379763 Simple 778178483 A . Likely benign 2 2 Koolen-de Vries syndrome;not specified 2017-03-21 -5.7 1.0 Likely benign 0 -379764 Simple 8178087 T . Benign/Likely benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -379765 Simple 61742074 G . Benign 2 2 not specified;Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 2017-04-20 -12.0 0.5 Benign/Likely benign 1 -379767 Simple 76567936 G . Benign 2 2 not specified;Joubert syndrome 21 2017-05-02 -12.0 0.5 Benign/Likely benign 1 -379768 Simple 61100157 A . Benign 2 2 Osteogenesis imperfecta type 8;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -379769 Simple 61746642 A . Benign 2 2 Osteogenesis imperfecta type 8;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -379770 Simple 76871760 C . Benign 2 2 Osteogenesis imperfecta type 8;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -379771 Simple 34809608 A . Benign 2 2 Osteogenesis imperfecta type 8;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -379772 Simple 8177999 A . Benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-06-30 -11.4 1.0 Benign/Likely benign 1 -379789 Simple 1057520733 A . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;not provided 2017-07-14 11.4 1.0 Pathogenic/Likely pathogenic 1 -379793 Simple 751744545 C . Benign/Likely benign 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -11.4 1.0 Benign/Likely benign 0 -379794 Simple 375032130 C . Pathogenic/Likely pathogenic 2 2 not provided;Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2017-11-16 9.0 0.0 Pathogenic/Likely pathogenic 0 -379799 Simple 376505336 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-05 -6.0 0.5 Likely benign 0 -379815 Simple 1057520742 T . Pathogenic/Likely pathogenic 2 2 Hypohidrotic X-linked ectodermal dysplasia;not provided 2016-08-12 8.4 1.5 Pathogenic/Likely pathogenic 0 -379824 Simple 1057520745 A . Likely benign 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-03 -11.7 1.0 Benign/Likely benign 1 -379842 Simple 45464800 T . Benign 2 2 Tuberous sclerosis 2;not specified 2017-07-27 -11.4 1.0 Benign/Likely benign 1 -379856 Simple 370173604 T . Benign/Likely benign 2 2 Arterial tortuosity syndrome;not specified 2017-05-03 -9.0 0.5 Benign/Likely benign 0 -379861 Simple 201861261 A . Likely benign 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-05-11 -6.0 0.0 Likely benign 0 -379876 Simple 782357394 G . Likely benign 2 2 not specified 2016-12-08 -6.0 1.0 Likely benign 0 -379881 Simple 1057520769 T . Pathogenic 2 2 Cohen syndrome;not provided 2017-07-18 11.4 1.0 Pathogenic/Likely pathogenic 1 -379899 Simple 1045257509 G . Likely benign 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -8.4 1.3333333333333333 Benign/Likely benign 1 -379906 Simple 61736338 A . Benign 2 2 Neuropathy, hereditary motor and sensory, Okinawa type;not specified;Spastic paraplegia 57, autosomal recessive 2017-07-20 -12.0 0.5 Benign/Likely benign 1 -379907 Simple 61755062 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-27 -8.4 1.0 Benign/Likely benign 0 -380025 Simple 367776807 A . Likely benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-07-27 -6.0 0.5 Likely benign 0 -380083 Simple 144092780 T . Benign/Likely benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-05-18 -9.0 0.0 Benign/Likely benign 0 -380085 Simple 41285372 G . Benign 2 2 Congenital disorder of glycosylation type 1C;not specified 2017-07-10 -11.4 1.0 Benign/Likely benign 1 -380097 Simple 6891700 T . Benign 2 2 2,4-Dienoyl-CoA reductase deficiency;not specified 2017-06-21 -11.4 1.0 Benign/Likely benign 1 -380106 Simple 60199637 A . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-08-01 -11.4 1.0 Benign/Likely benign 1 -380107 Simple 10185197 T . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-08-01 -11.4 1.0 Benign/Likely benign 1 -380108 Simple 11539148 C . Benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-08-14 -11.4 1.0 Benign/Likely benign 1 -380111 Simple 199909913 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -8.7 1.0 Benign/Likely benign 1 -380116 Simple 587779054 C . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 -12.0 0.5 Benign/Likely benign 1 -380117 Simple 1057520795 C . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-10 -9.0 1.0 Benign/Likely benign 1 -380122 Simple 780770793 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2016-09-15 -6.0 1.0 Likely benign 0 -380128 Simple 368270856 C . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-17 -11.1 1.25 Benign/Likely benign 1 -380134 Simple 778388513 G . Likely benign 2 2 Neuropathy hereditary sensory and autonomic type 1;not specified 2017-07-25 -6.0 0.5 Likely benign 0 -380141 Simple 11568513 A . Likely benign 2 3 Renal carnitine transport defect;not specified;not provided 2017-07-21 -9.0 0.3333333333333333 Benign/Likely benign 1 -380145 Simple 1705805 G . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380146 Simple 1669348 G . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380186 Simple 11568438 A . Benign 2 2 Lysinuric protein intolerance;not specified 2017-05-26 -12.0 0.5 Benign/Likely benign 1 -380192 Simple 115390773 G . Likely benign 2 2 not specified;not provided 2017-09-19 -6.0 0.5 Likely benign 0 -380194 Simple 76400963 G . Benign 2 2 not specified;Congenital disorder of glycosylation type 1x 2016-07-12 -12.0 1.0 Benign/Likely benign 1 -380208 Simple 2075784 A . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380209 Simple 4077170 G . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380210 Simple 5744751 A . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-06 -10.8 2.0 Benign/Likely benign 1 -380212 Simple 5744857 T . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-30 -10.8 2.0 Benign/Likely benign 1 -380213 Simple 5744941 T . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-06 -10.8 2.0 Benign/Likely benign 1 -380214 Simple 5744944 C . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-03-29 -16.8 1.6666666666666667 Benign/Likely benign 1 -380215 Simple 5744934 C . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-03-29 -16.8 1.6666666666666667 Benign/Likely benign 1 -380216 Simple 5744990 A . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-03-29 -16.8 1.6666666666666667 Benign/Likely benign 1 -380217 Simple 5745022 C . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-10-30 -10.8 2.0 Benign/Likely benign 1 -380218 Simple 5745023 T . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380219 Simple 20582 A . Benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -16.8 1.6666666666666667 Benign/Likely benign 1 -380220 Simple 1726801 A . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-06 -10.8 2.0 Benign/Likely benign 1 -380222 Simple 5744886 G . Benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-18 -22.8 1.25 Benign/Likely benign 1 -380225 Simple 5744822 T . Benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-09 -23.4 1.0 Benign/Likely benign 1 -380226 Simple 5744936 A . Benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-09 -23.4 1.0 Benign/Likely benign 1 -380227 Simple 1143666 C . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-06 -10.8 2.0 Benign/Likely benign 1 -380228 Simple 1274607 C . Benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -16.8 1.3333333333333333 Benign/Likely benign 1 -380231 Simple 5744946 A . Benign 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-08-21 -17.4 1.0 Benign/Likely benign 1 -380232 Simple 139748472 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -380235 Simple 1673046 T . Benign 2 2 not specified 2016-08-04 -11.4 1.5 Benign/Likely benign 1 -380238 Simple 189655274 A . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-05-22 -9.0 0.0 Benign/Likely benign 0 -380240 Simple 774567729 A . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2016-11-10 -5.7 1.5 Likely benign 0 -380241 Simple 554749579 G . Likely benign 2 2 SeSAME syndrome;not specified 2017-04-04 -5.7 1.0 Likely benign 0 -380243 Simple 777148436 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -6.0 0.5 Likely benign 0 -380244 Simple 1057520804 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-09-09 -8.4 1.6666666666666667 Benign/Likely benign 1 -380248 Simple 372396487 G . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.6 Benign/Likely benign 1 -380256 Simple 781299975 G . Likely benign 2 2 Ceroid lipofuscinosis neuronal 7;not specified 2017-06-27 -6.0 0.5 Likely benign 0 -380261 Simple 374213093 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -6.0 0.5 Likely benign 0 -380265 Simple 760667639 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-06 -6.0 0.0 Likely benign 0 -380270 Simple 140791274 A . Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-07-06 -6.0 0.5 Likely benign 0 -380288 Simple 760439858 A . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-30 -9.0 0.3333333333333333 Benign/Likely benign 1 -380294 Simple 200759046 C . Likely benign 2 2 not specified 2016-12-29 -5.7 1.5 Likely benign 0 -380314 Simple 756326813 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-06-22 -6.0 0.5 Likely benign 0 -380317 Simple 537626868 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-28 -5.7 1.0 Likely benign 0 -380324 Simple 929343982 T . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -9.0 0.3333333333333333 Benign/Likely benign 1 -380326 Simple 762032752 C . Likely benign 2 2 Tuberous sclerosis 2;not specified 2016-09-22 -6.0 1.0 Likely benign 0 -380329 Simple 1039808 T . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380336 Simple 761037236 T . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-02-22 -5.7 1.5 Likely benign 0 -380343 Simple 1057520829 T . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-08-16 -5.7 1.5 Likely benign 0 -380348 Simple 373854674 C . Likely benign 2 2 Spastic paraplegia 31, autosomal dominant;not specified 2017-04-25 -6.0 0.5 Likely benign 0 -380352 Simple 372596900 A . Uncertain significance 2 2 Arterial tortuosity syndrome;not specified 2017-05-17 -0.6 0.5 Uncertain significance 0 -380365 Simple 62000377 C . Benign 2 2 not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -380366 Simple 61741725 A . Benign 2 2 not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -380367 Simple 72821356 T . Benign 2 2 not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -380368 Simple 60520302 G . Benign 2 2 not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -380369 Simple 76793093 A . Benign 2 2 not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -380373 Simple 142096878 C . Likely benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-07-12 -6.0 0.5 Likely benign 0 -380375 Simple 1057520840 C . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -9.0 0.6666666666666666 Benign/Likely benign 1 -380379 Simple 876660759 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -9.0 0.3333333333333333 Benign/Likely benign 1 -380386 Simple 375503410 A . Benign/Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-31 -12.0 0.3333333333333333 Benign/Likely benign 0 -380388 Simple 374228930 A . Benign/Likely benign 2 2 not specified 2017-02-15 -9.0 1.0 Benign/Likely benign 0 -380392 Simple 148380285 T . Likely benign 2 2 Costello syndrome;not specified 2017-07-27 -6.0 0.5 Likely benign 0 -380397 Simple 371996897 A . Benign/Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -11.4 1.0 Benign/Likely benign 0 -380400 Simple 777458053 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-10-16 -6.0 0.0 Likely benign 0 -380408 Simple 754584062 T . Likely benign 2 2 not specified;not provided 2017-06-30 -6.0 0.5 Likely benign 0 -380411 Simple 145805120 G . Likely benign 2 5 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -14.7 0.6 Benign/Likely benign 1 -380412 Simple 147610681 G . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-04-20 -0.6 0.5 Uncertain significance 0 -380415 Simple 368200727 A . Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-07-26 -6.0 0.5 Likely benign 0 -380420 Simple 61755043 C . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-06-04 -9.0 0.0 Benign/Likely benign 0 -380422 Simple 3026183 A . Likely benign 2 2 Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27 2017-10-06 -6.0 0.5 Likely benign 0 -380426 Simple 373973956 T . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-02-22 -6.0 1.0 Likely benign 0 -380427 Simple 878853705 A . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-27 -6.0 0.0 Likely benign 0 -380429 Simple 11146986 A . Benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-17 -22.8 1.25 Benign/Likely benign 1 -380431 Simple 745869388 G . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-05-12 -6.0 0.5 Likely benign 0 -380432 Simple 5744856 T . Benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-15 -22.8 1.25 Benign/Likely benign 1 -380441 Simple 74886553 G . Benign 2 2 not specified;Neurodegeneration with brain iron accumulation 6 2017-06-23 -11.4 1.0 Benign/Likely benign 1 -380445 Simple 146773721 T . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 27 2017-08-12 -12.0 0.5 Benign/Likely benign 1 -380446 Simple 141323589 T . Benign 2 2 Spastic paraplegia 28, autosomal recessive;not specified 2017-06-23 -11.4 1.0 Benign/Likely benign 1 -380453 Simple 148619511 G . Benign 2 2 Glycogen storage disease XV;not specified;Polyglucosan body myopathy 2 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -380454 Simple 114916821 G . Benign/Likely benign 2 2 not specified;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 -9.0 0.0 Benign/Likely benign 0 -380459 Simple 6696162 T . Benign/Likely benign 2 3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified 2017-07-07 -12.0 0.6666666666666666 Benign/Likely benign 0 -380461 Simple 371905179 A . Benign/Likely benign 2 2 Creatine deficiency, X-linked;not specified 2017-04-11 -9.0 0.0 Benign/Likely benign 0 -380462 Simple 147284943 A . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -12.0 0.0 Benign/Likely benign 0 -380474 Simple 8178231 A . Benign/Likely benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-07-31 -8.7 1.0 Benign/Likely benign 0 -380483 Simple 55991828 A . Benign/Likely benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -380484 Simple 56053523 A . Benign/Likely benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -380485 Simple 1057520857 A . Likely benign 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -12.0 0.0 Benign/Likely benign 1 -380487 Simple 1057520858 A . Pathogenic 2 2 Mental retardation, X-linked 1;not provided 2016-12-21 12.0 1.0 Pathogenic/Likely pathogenic 1 -380493 Simple 141228574 C . Benign 2 2 not specified;Coenzyme Q10 deficiency, primary, 7 2017-06-30 -12.0 0.5 Benign/Likely benign 1 -380508 Simple 77972324 A . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 17 2017-07-31 -11.4 1.0 Benign/Likely benign 1 -380509 Simple 28733633 T . Benign 2 2 Tyrosinemia type I;not specified 2017-07-10 -12.0 0.5 Benign/Likely benign 1 -380510 Simple 61744041 C . Benign 2 2 not specified;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 -11.4 1.0 Benign/Likely benign 1 -380512 Simple 35073715 C . Benign 2 2 not specified;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 2017-05-23 -11.4 1.0 Benign/Likely benign 1 -380518 Simple 7938203 G . Benign 2 2 not specified;3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2017-07-15 -11.4 1.0 Benign/Likely benign 1 -380519 Simple 35401939 A . Benign 2 2 not specified;3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2017-07-15 -11.4 1.0 Benign/Likely benign 1 -380532 Simple 138917651 T . Likely benign 2 2 not specified;Coenzyme Q10 deficiency, primary, 7 2017-07-21 -6.0 0.5 Likely benign 0 -380535 Simple 138906273 C . Benign/Likely benign 2 2 Spastic paraplegia 28, autosomal recessive;not specified 2017-08-03 -9.0 0.0 Benign/Likely benign 0 -380538 Simple 35917308 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-30 -5.4 2.0 Likely benign 0 -380539 Simple 786201413 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -6.0 0.5 Likely benign 0 -380540 Simple 1057520859 C . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -8.7 1.0 Benign/Likely benign 1 -380566 Simple 1017112753 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -9.0 0.6666666666666666 Benign/Likely benign 1 -380573 Simple 79189380 T . Benign 2 2 2,4-Dienoyl-CoA reductase deficiency;not specified 2017-05-23 -12.0 0.5 Benign/Likely benign 1 -380576 Simple 61748148 T . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-06-08 -12.0 0.5 Benign/Likely benign 1 -380577 Simple 145886643 C . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-06-08 -12.0 0.5 Benign/Likely benign 1 -380579 Simple 61748150 A . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-07-03 -12.0 0.5 Benign/Likely benign 1 -380583 Simple 55719932 T . Benign 2 2 not specified;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 2017-08-14 -11.4 1.0 Benign/Likely benign 1 -380584 Simple 201581661 T . Benign 2 2 Creatine deficiency, X-linked;not specified 2017-04-22 -12.0 0.5 Benign/Likely benign 1 -380589 Simple 782373793 C . Likely benign 2 2 Creatine deficiency, X-linked;not specified 2017-05-02 -6.0 0.0 Likely benign 0 -380598 Simple 75033443 T . Benign 2 3 not specified;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 2017-08-07 -17.4 1.0 Benign/Likely benign 1 -380599 Simple 41399044 T . Benign 2 3 not specified;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 2017-08-07 -17.4 1.0 Benign/Likely benign 1 -380604 Simple 1057520868 C . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-06-13 -6.0 0.5 Likely benign 0 -380605 Simple 1057520869 T . Likely benign 2 2 Peutz-Jeghers syndrome;not specified 2017-06-05 -6.0 0.5 Likely benign 0 -380608 Simple 147052890 A . Benign/Likely benign 2 2 Holt-Oram syndrome;not specified 2016-11-03 -9.0 1.0 Benign/Likely benign 0 -380609 Simple 1057520871 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-09-23 -5.7 1.5 Likely benign 0 -380612 Simple 1057520873 A . Pathogenic 2 2 Primary autosomal recessive microcephaly 5;not provided 2016-12-08 11.4 1.5 Pathogenic/Likely pathogenic 1 -380616 Simple 112208466 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 6;not specified 2017-05-30 -5.7 1.0 Likely benign 0 -380626 Simple 757064383 C . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-24 -8.7 1.3333333333333333 Benign/Likely benign 1 -380632 Simple 180832203 T . Likely benign 2 2 not specified;not provided 2017-10-30 -6.0 0.0 Likely benign 0 -380633 Simple 2228665 G . Benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -22.8 1.25 Benign/Likely benign 1 -380634 Simple 1726803 A . Benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -22.8 1.25 Benign/Likely benign 1 -380636 Simple 2230246 A . Benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -22.8 1.25 Benign/Likely benign 1 -380637 Simple 2230247 T . Benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -22.8 1.25 Benign/Likely benign 1 -380638 Simple 1726790 A . Benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -22.8 1.25 Benign/Likely benign 1 -380641 Simple 369444765 G . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-10-30 -9.0 0.3333333333333333 Benign/Likely benign 1 -380646 Simple 377613824 T . Likely benign 2 2 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures 2017-07-28 -6.0 0.5 Likely benign 0 -380649 Simple 368818087 C . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-22 -8.4 1.0 Benign/Likely benign 0 -380650 Simple 758659692 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-07 -0.6 0.5 Uncertain significance 0 -380660 Simple 774764623 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -11.4 1.25 Benign/Likely benign 1 -380662 Simple 114073289 T . Benign/Likely benign 2 2 Tyrosine kinase 2 deficiency;not specified 2017-06-28 -8.7 1.0 Benign/Likely benign 0 -380666 Simple 13338340 A . Likely benign 2 2 not specified 2017-04-24 -6.0 0.5 Likely benign 0 -380670 Simple 17838192 A . Benign/Likely benign 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-10-26 -9.0 0.0 Benign/Likely benign 0 -380678 Simple 138740640 C . Likely benign 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-06-06 -5.7 1.0 Likely benign 0 -380697 Simple 3176179 G . Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-06-22 -6.0 0.0 Likely benign 0 -380698 Simple 147242130 G . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-16 -6.0 0.0 Likely benign 0 -380706 Simple 2230244 T . Benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -22.8 1.25 Benign/Likely benign 1 -380708 Simple 145829956 T . Likely benign 2 2 not specified;not provided 2017-09-25 -6.0 0.0 Likely benign 0 -380713 Simple 761165876 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-05-26 -6.0 0.5 Likely benign 0 -380719 Simple 373968155 T . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-02 -8.4 1.3333333333333333 Benign/Likely benign 1 -380720 Simple 375759744 G . Likely benign 2 2 Early infantile epileptic encephalopathy 9;not specified 2016-07-10 -5.7 1.5 Likely benign 0 -380733 Simple 761794669 A . Likely benign 2 2 Dilated cardiomyopathy 1W;not specified 2017-05-04 -5.7 1.0 Likely benign 0 -380747 Simple 544518097 C . Benign/Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-01 -14.7 0.75 Benign/Likely benign 0 -380749 Simple 781533317 C . Benign/Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-03 -11.1 1.6666666666666667 Benign/Likely benign 0 -380753 Simple 773901705 T . Benign/Likely benign 2 2 Shprintzen-Goldberg syndrome;not specified 2016-12-14 -9.0 1.0 Benign/Likely benign 0 -380762 Simple 1057520905 C . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-30 -5.7 1.0 Likely benign 0 -380781 Simple 370438099 G . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-06-06 -11.4 1.0 Benign/Likely benign 1 -380782 Simple 13447397 A . Benign/Likely benign 2 2 Baraitser-Winter syndrome 1;not specified 2017-02-15 -9.0 1.0 Benign/Likely benign 0 -380791 Simple 810205 G . Benign 2 2 not specified;Spastic paraplegia 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -380793 Simple 2940779 C . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380802 Simple 1014866 G . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380805 Simple 2229944 A . Benign 2 2 not specified 2017-06-29 -11.4 1.0 Benign/Likely benign 1 -380812 Simple 6847454 T . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380813 Simple 1567047 A . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380815 Simple 72928772 T . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -380821 Simple 520282 A . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-08-03 -11.4 1.0 Benign/Likely benign 1 -380823 Simple 2229006 C . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-08-01 -11.4 1.0 Benign/Likely benign 1 -380824 Simple 34280195 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-08-01 -11.4 1.0 Benign/Likely benign 1 -380825 Simple 201156458 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-04-12 -9.0 0.5 Benign/Likely benign 0 -380835 Simple 9872183 G . Benign 2 2 not specified;Nemaline myopathy 8 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -380846 Simple 73344102 A . Benign 2 2 not specified;Interstitial lung and liver disease;Charcot-Marie-Tooth disease, axonal, type 2u 2017-07-20 -11.4 1.0 Benign/Likely benign 1 -380855 Simple 1057520909 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -11.4 1.25 Benign/Likely benign 1 -380856 Simple 760922019 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -380857 Simple 34422225 A . Benign 2 2 not specified;Multiple congenital anomalies-hypotonia-seizures syndrome 2 2017-08-10 -11.4 1.0 Benign/Likely benign 1 -380881 Simple 73023451 C . Likely benign 2 2 not specified;Spastic paraplegia 43, autosomal recessive 2017-02-23 -6.0 1.0 Likely benign 0 -380883 Simple 35919356 A . Benign 2 2 Ataxia, spastic, 2, autosomal recessive;not specified 2017-08-08 -12.0 0.5 Benign/Likely benign 1 -380898 Simple 72836208 T . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-08-14 -9.0 0.0 Benign/Likely benign 0 -380903 Simple 3818681 A . Benign 2 2 not specified 2017-06-28 -11.4 1.0 Benign/Likely benign 1 -380908 Simple 182505786 A . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-08-14 -9.0 0.0 Benign/Likely benign 0 -380909 Simple 56157640 A . Benign 2 3 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-08-08 -18.0 0.6666666666666666 Benign/Likely benign 1 -380927 Simple 2273906 T . Benign 2 2 not specified;Spastic paraplegia 49, autosomal recessive 2017-08-03 -12.0 0.5 Benign/Likely benign 1 -380928 Simple 17791240 G . Benign 2 2 not specified;Spastic paraplegia 49, autosomal recessive 2017-08-03 -12.0 0.5 Benign/Likely benign 1 -380930 Simple 149393698 A . Likely benign 2 2 Troyer syndrome;not specified 2016-09-26 -6.0 1.0 Likely benign 0 -380931 Simple 749414711 G . Likely benign 2 2 Spastic paraplegia 6;not specified 2017-02-06 -6.0 1.0 Likely benign 0 -380937 Simple 61745812 T . Benign 2 2 not specified 2017-01-15 -12.0 1.0 Benign/Likely benign 1 -380942 Simple 61520357 C . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-08-04 -11.4 1.0 Benign/Likely benign 1 -380943 Simple 75559202 G . Benign 2 3 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-08-09 -17.4 0.6666666666666666 Benign/Likely benign 1 -380944 Simple 35060568 A . Benign 2 2 Limb-girdle muscular dystrophy, type 1F;not specified 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -380950 Simple 61757224 A . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 31 2017-08-14 -11.4 1.0 Benign/Likely benign 1 -380951 Simple 2289723 T . Benign 2 2 Spinocerebellar ataxia 19;not specified 2017-07-04 -12.0 0.5 Benign/Likely benign 1 -380955 Simple 144417100 T . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-08-22 -6.0 0.5 Likely benign 0 -380957 Simple 45467297 G . Benign 2 2 not specified;Spastic paraplegia 49, autosomal recessive 2017-08-08 -12.0 0.5 Benign/Likely benign 1 -380972 Simple 1057520918 T . Pathogenic 2 2 not provided 2017-01-09 10.8 2.0 Pathogenic/Likely pathogenic 1 -380975 Simple 750633919 G . Uncertain significance 2 3 Neurofibromatosis, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -380993 Simple 35942802 C . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2017-06-28 -9.0 0.0 Benign/Likely benign 0 -380994 Simple 35936107 T . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2017-05-24 -9.0 0.0 Benign/Likely benign 0 -381003 Simple 79620906 A . Benign/Likely benign 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-08-10 -9.0 0.5 Benign/Likely benign 0 -381005 Simple 190287033 A . Likely benign 2 3 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-26 -9.0 0.0 Benign/Likely benign 1 -381009 Simple 140110298 T . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -11.7 1.0 Benign/Likely benign 1 -381018 Simple 371737919 T . Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-10-25 -6.0 0.0 Likely benign 0 -381035 Simple 146841400 A . Likely benign 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2017-07-26 -6.0 0.0 Likely benign 0 -381039 Simple 4986858 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -381049 Simple 776738338 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-05-25 -0.6 0.5 Uncertain significance 0 -381050 Simple 1889788 T . Benign/Likely benign 2 2 not specified 2017-08-02 -8.7 1.0 Benign/Likely benign 0 -381080 Simple 150929445 G . Likely benign 2 2 Progressive sclerosing poliodystrophy;not specified 2017-07-17 -6.0 0.0 Likely benign 0 -381084 Simple 759013264 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -9.0 0.3333333333333333 Benign/Likely benign 1 -381095 Simple 373222155 T . Likely benign 2 2 not specified 2016-12-08 -5.7 1.5 Likely benign 0 -381114 Simple 1057520966 T . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-03 -9.0 0.3333333333333333 Benign/Likely benign 1 -381116 Simple 370783137 T . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -8.7 1.0 Benign/Likely benign 1 -381127 Simple 1057520969 T . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-26 -9.0 1.0 Benign/Likely benign 1 -381128 Simple 876658954 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -6.0 0.5 Likely benign 0 -381134 Simple 753387666 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-04-16 -6.0 0.5 Likely benign 0 -381166 Simple 202110837 A . Likely benign 2 2 not specified;not provided 2017-09-06 -6.0 0.0 Likely benign 0 -381173 Simple 76352345 C . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -381178 Simple 566792 C . Benign 2 3 not specified 2016-10-05 -18.0 1.0 Benign/Likely benign 1 -381179 Simple 2307105 G . Benign 2 3 not specified 2017-03-16 -18.0 0.6666666666666666 Benign/Likely benign 1 -381180 Simple 34298786 A . Benign 2 2 not specified 2016-11-03 -12.0 1.0 Benign/Likely benign 1 -381181 Simple 2279580 C . Benign 2 3 not specified 2017-03-16 -18.0 0.6666666666666666 Benign/Likely benign 1 -381182 Simple 35602605 T . Benign 2 3 not specified 2016-12-27 -18.0 1.0 Benign/Likely benign 1 -381183 Simple 12916520 T . Benign 2 2 not specified 2017-03-16 -12.0 0.5 Benign/Likely benign 1 -381184 Simple 3207297 T . Benign 2 2 not specified 2016-11-03 -12.0 1.0 Benign/Likely benign 1 -381185 Simple 2250402 T . Benign 2 3 not specified 2017-03-16 -18.0 0.6666666666666666 Benign/Likely benign 1 -381196 Simple 34997494 G . Benign 2 3 not specified;Aortic aneurysm, familial thoracic 8 2017-08-07 -18.0 0.6666666666666666 Benign/Likely benign 1 -381210 Simple 76461420 C . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-07-21 -12.0 0.5 Benign/Likely benign 1 -381213 Simple 2291627 C . Benign 2 3 not specified 2017-01-13 -18.0 1.0 Benign/Likely benign 1 -381215 Simple 145313578 T . Benign/Likely benign 2 2 Brugada syndrome;not specified 2017-08-03 -9.0 0.0 Benign/Likely benign 0 -381227 Simple 1057520980 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -5.7 1.0 Likely benign 0 -381228 Simple 375952649 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-10-17 -6.0 0.5 Likely benign 0 -381229 Simple 1057520981 C . Likely benign 2 2 Lynch syndrome;not specified 2016-10-21 -6.0 1.0 Likely benign 0 -381230 Simple 1057520982 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.5 Likely benign 0 -381234 Simple 750998416 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-08 -8.7 0.6666666666666666 Benign/Likely benign 1 -381236 Simple 773044699 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -8.7 0.6666666666666666 Benign/Likely benign 1 -381242 Simple 1057520988 G . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-23 -8.7 1.0 Benign/Likely benign 1 -381243 Simple 1057520989 T . Likely benign 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-21 -11.7 1.25 Benign/Likely benign 1 -381248 Simple 752718686 T . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-02-18 -5.7 1.5 Likely benign 0 -381261 Simple 1057520999 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-11 -5.7 1.0 Likely benign 0 -381265 Simple 145310035 T . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified;not provided 2017-06-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -381268 Simple 9935872 G . Benign 2 2 not specified 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -381269 Simple 144332908 G . Likely benign 2 2 Tyrosine kinase 2 deficiency;not specified 2017-07-18 -5.7 1.0 Likely benign 0 -381273 Simple 1027921501 A . Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-01-11 -5.7 1.5 Likely benign 0 -381292 Simple 533553381 A . Benign/Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-29 -11.4 1.6666666666666667 Benign/Likely benign 0 -381300 Simple 749880457 G . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-04-07 -5.7 1.0 Likely benign 0 -381317 Simple 199546819 A . Likely benign 2 2 Hereditary sensory neuropathy type IE;not specified 2017-05-16 -5.7 1.0 Likely benign 0 -381319 Simple 141925790 C . Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-03-20 -6.0 0.5 Likely benign 0 -381327 Simple 1057521017 A . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -11.4 1.25 Benign/Likely benign 1 -381331 Simple 772605413 T . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-05-07 -5.7 1.5 Likely benign 0 -381347 Simple 554607161 G . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2016-06-16 -5.7 1.5 Likely benign 0 -381370 Simple 146868811 T . Likely benign 2 2 Long QT syndrome;not specified 2017-03-13 -5.7 1.0 Likely benign 0 -381378 Simple 560790452 A . Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-05-12 -5.7 1.0 Likely benign 0 -381380 Simple 200346578 T . Benign/Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -11.7 1.0 Benign/Likely benign 0 -381400 Simple 928545955 A . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 0.8 Benign/Likely benign 1 -381413 Simple 7217826 A . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 17 2017-07-27 -11.4 1.0 Benign/Likely benign 1 -381419 Simple 188068027 C . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 27 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -381422 Simple 115180578 G . Benign 2 2 not specified;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 -11.4 1.0 Benign/Likely benign 1 -381435 Simple 150789545 T . Likely benign 2 2 not specified;not provided 2017-06-02 -6.0 0.5 Likely benign 0 -381436 Simple 148999619 A . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-07-19 -11.4 1.0 Benign/Likely benign 1 -381452 Simple 73296180 A . Benign 2 2 Spastic paraplegia 28, autosomal recessive;not specified 2016-12-17 -11.4 1.5 Benign/Likely benign 1 -381454 Simple 2290297 G . Benign 2 2 not specified;Interstitial lung and liver disease;Charcot-Marie-Tooth disease, axonal, type 2u 2017-04-04 -12.0 0.5 Benign/Likely benign 1 -381455 Simple 74650888 C . Benign/Likely benign 2 2 not specified;Congenital disorder of deglycosylation 2017-09-13 -9.0 0.0 Benign/Likely benign 0 -381457 Simple 187400676 A . Benign/Likely benign 2 2 not specified;not provided 2017-06-20 -8.4 1.0 Benign/Likely benign 0 -381460 Simple 61746524 T . Benign/Likely benign 2 2 not specified;not provided 2017-04-19 -9.0 0.5 Benign/Likely benign 0 -381467 Simple 766004110 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;not specified 2017-06-29 -6.3 0.0 Likely benign 0 -381476 Simple 754246295 A . Likely benign 2 2 Homocystinuria due to CBS deficiency;not specified 2017-06-30 -6.0 0.5 Likely benign 0 -381485 Simple 146695946 T . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2016-11-14 -6.0 1.0 Likely benign 0 -381486 Simple 149910892 A . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -381488 Simple 201203517 T . Likely benign 2 2 not specified;Dilated cardiomyopathy 1KK 2017-08-16 -6.0 0.0 Likely benign 0 -381492 Simple 542520309 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-31 -5.7 1.5 Likely benign 0 -381500 Simple 1057521053 G . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -15.0 0.6 Benign/Likely benign 1 -381529 Simple 1057521060 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-09 10.8 2.0 Pathogenic/Likely pathogenic 1 -381531 Simple 140765565 G . Benign/Likely benign 2 3 not specified 2016-07-14 -11.7 1.3333333333333333 Benign/Likely benign 0 -381539 Simple 758621985 A . Benign/Likely benign 2 2 FG syndrome;not specified 2017-07-25 -9.0 0.5 Benign/Likely benign 0 -381543 Simple 925489951 C . Likely benign 2 2 Familial cancer of breast;not specified 2016-08-10 -5.7 1.5 Likely benign 0 -381545 Simple 74717885 C . Benign 2 2 Brugada syndrome;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -381555 Simple 766676234 C . Likely benign 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-03-21 -8.4 1.3333333333333333 Benign/Likely benign 1 -381558 Simple 374163231 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-07 -8.7 1.0 Benign/Likely benign 1 -381572 Simple 369465430 A . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-05-30 -5.7 1.0 Likely benign 0 -381574 Simple 1039571136 T . Pathogenic/Likely pathogenic 2 2 Mental retardation, autosomal dominant 7;not provided 2017-01-06 9.0 1.0 Pathogenic/Likely pathogenic 0 -381584 Simple 200288072 A . Pathogenic 2 2 Laminin alpha 2-related dystrophy;not provided 2017-03-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -381588 Simple 893256143 A . Pathogenic/Likely pathogenic 2 2 not provided 2016-06-09 7.8 2.0 Likely pathogenic 1 -381592 Simple 1057521088 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;not specified 2016-11-26 -0.6 1.0 Uncertain significance 0 -381593 Simple 1057521089 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-01-12 -0.87 1.3333333333333333 Uncertain significance 0 -381600 Simple 1057521094 T . Pathogenic/Likely pathogenic 2 2 not provided 2016-10-05 9.0 1.0 Pathogenic/Likely pathogenic 0 -381615 Simple 1057521105 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 6;not specified 2017-07-25 -0.6 0.0 Uncertain significance 0 -381620 Simple 150116169 T . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -17.7 0.5 Benign/Likely benign 0 -381636 Simple 63750146 T . Likely pathogenic 2 1 Pseudoxanthoma elasticum;not provided 2016-09-29 . 1.0 . 0 -381647 Simple 367902268 T . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-28 -5.7 1.0 Likely benign 0 -381648 Simple 369929044 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -381661 Simple 80357091 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-10 -5.7 1.5 Likely benign 0 -381672 Simple 141799330 T . Benign/Likely benign 2 2 Leukocyte adhesion deficiency type 1;not specified 2017-07-19 -8.7 1.0 Benign/Likely benign 0 -381674 Simple 371520433 G . Likely benign 2 2 Familial hemiplegic migraine;not specified 2016-11-07 -5.7 1.5 Likely benign 0 -381691 Simple 172155862 G . Likely benign 2 2 Progressive familial heart block type 1B;not specified 2017-03-21 -6.0 0.5 Likely benign 0 -381692 Simple 150391806 T . Benign 2 3 Progressive familial heart block type 1B;not specified 2017-07-11 -18.0 0.6666666666666666 Benign/Likely benign 1 -381713 Simple 12209266 C . Likely benign 2 2 not specified;Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 2017-07-28 -6.0 0.5 Likely benign 0 -381715 Simple 116229331 T . Benign/Likely benign 2 2 Hemophagocytic lymphohistiocytosis, familial, 3;not specified 2017-06-29 -9.0 0.5 Benign/Likely benign 0 -381716 Simple 776936158 T . Likely pathogenic 2 2 Deficiency of ferroxidase;not provided 2017-03-09 6.0 0.5 Likely pathogenic 0 -381735 Simple 769422122 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-17 -5.4 2.0 Likely benign 0 -381741 Simple 533708375 A . Benign/Likely benign 2 2 not specified;Dilated cardiomyopathy 1KK 2017-07-14 -8.7 1.0 Benign/Likely benign 0 -381742 Simple 777361888 C . Likely benign 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-05-05 -5.7 1.0 Likely benign 0 -381761 Simple 1057521163 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-09 -5.7 1.5 Likely benign 0 -381762 Simple 116482376 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-27 -8.7 1.0 Benign/Likely benign 1 -381763 Simple 773139281 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-04-05 -5.7 1.0 Likely benign 0 -381780 Simple 45615337 T . Benign 2 2 not specified;Aortic aneurysm, familial thoracic 8 2017-08-09 -12.0 0.5 Benign/Likely benign 1 -381781 Simple 37133 G . Benign 2 3 Brugada syndrome;not specified 2017-07-28 -18.0 0.3333333333333333 Benign/Likely benign 1 -381786 Simple 145639967 A . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-09 -11.7 0.6666666666666666 Benign/Likely benign 0 -381818 Simple 138023874 A . Benign/Likely benign 2 2 Familial dysautonomia;not specified 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -381819 Simple 115345208 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-02-27 -9.0 1.0 Benign/Likely benign 0 -381833 Simple 34269084 T . Benign/Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -14.7 0.75 Benign/Likely benign 0 -381835 Simple 368920055 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-04 -8.7 1.0 Benign/Likely benign 1 -381841 Simple 148606237 T . Benign/Likely benign 2 2 Glycogen storage disease type III;not specified 2017-07-31 -8.7 1.0 Benign/Likely benign 0 -381848 Simple 116272698 T . Benign 2 2 Tyrosinemia type I;not specified 2017-05-25 -12.0 0.5 Benign/Likely benign 1 -381865 Simple 114362638 C . Benign/Likely benign 2 2 not specified;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 2017-09-21 -9.0 0.0 Benign/Likely benign 0 -381869 Simple 58012546 A . Benign 2 3 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-08-16 -18.0 0.3333333333333333 Benign/Likely benign 1 -381870 Simple 79074016 A . Benign/Likely benign 2 2 Baraitser-Winter syndrome 1;not specified 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -381877 Simple 143793502 T . Benign 2 2 not specified 2017-03-26 -12.0 0.5 Benign/Likely benign 1 -381879 Simple 77300588 G . Likely benign 2 2 Renal carnitine transport defect;not specified 2017-03-10 -6.0 0.5 Likely benign 0 -381887 Simple 202005268 A . Benign/Likely benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-07-28 -9.0 0.0 Benign/Likely benign 0 -381895 Simple 999881274 G . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-05-08 -5.7 1.0 Likely benign 0 -381901 Simple 184162709 A . Benign/Likely benign 2 2 FG syndrome;not specified 2017-10-31 -9.0 0.5 Benign/Likely benign 0 -381915 Simple 188529864 C . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2016-10-21 -8.7 1.5 Benign/Likely benign 0 -381919 Simple 117972572 A . Likely benign 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-10-27 -6.0 0.0 Likely benign 0 -381926 Simple 116323660 T . Benign/Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-08-04 -12.0 0.0 Benign/Likely benign 0 -381928 Simple 767254003 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-06 -8.4 1.3333333333333333 Benign/Likely benign 1 -381937 Simple 746678748 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -8.7 0.6666666666666666 Benign/Likely benign 1 -381946 Simple 1057521217 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-11-29 -5.4 2.0 Likely benign 0 -381962 Simple 1061228 A . Benign 2 2 not specified 2017-04-17 -11.4 1.0 Benign/Likely benign 1 -381971 Simple 1057521226 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-09 -5.7 1.5 Likely benign 0 -381986 Simple 200998367 T . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-04-12 -6.0 0.5 Likely benign 0 -382020 Simple 1057521240 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-03-26 -5.7 1.0 Likely benign 0 -382041 Simple 769816456 G . Likely benign 2 2 Dilated cardiomyopathy 1O;not specified 2017-07-18 -6.0 0.5 Likely benign 0 -382044 Simple 749988944 T . Likely benign 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-05-31 -5.7 1.0 Likely benign 0 -382054 Simple 564435126 A . Likely benign 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-04-20 -6.0 0.5 Likely benign 0 -382055 Simple 534740669 C . Likely benign 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-04-20 -6.0 0.5 Likely benign 0 -382056 Simple 2232786 T . Likely benign 2 2 not specified;not provided 2017-02-22 -5.7 1.5 Likely benign 0 -382062 Simple 140158304 T . Likely benign 2 2 not specified 2017-02-28 -6.0 1.0 Likely benign 0 -382065 Simple 79081036 A . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 27 2017-07-27 -12.0 0.5 Benign/Likely benign 1 -382089 Simple 13426055 G . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-08-01 -11.4 1.0 Benign/Likely benign 1 -382090 Simple 17036806 A . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-08-01 -11.4 1.0 Benign/Likely benign 1 -382101 Simple 762867687 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-24 -5.4 2.0 Likely benign 0 -382117 Simple 1057521256 A . Likely benign 2 2 Early infantile epileptic encephalopathy 9;not specified 2016-08-03 -5.7 1.5 Likely benign 0 -382122 Simple 183284555 G . Benign/Likely benign 2 3 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-02-23 -11.7 1.3333333333333333 Benign/Likely benign 0 -382133 Simple 1057521265 C . Likely benign 2 2 Lynch syndrome;not specified 2016-11-09 -5.7 1.5 Likely benign 0 -382137 Simple 145353928 A . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-08-22 -12.0 0.5 Benign/Likely benign 1 -382142 Simple 34467662 A . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-08-02 -11.4 1.0 Benign/Likely benign 1 -382145 Simple 376293017 A . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-04-22 -6.0 0.5 Likely benign 0 -382146 Simple 139637382 T . Benign/Likely benign 2 2 Mental retardation, autosomal dominant 8;not specified 2017-09-12 -9.0 0.0 Benign/Likely benign 0 -382148 Simple 369921166 A . Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2016-12-20 -5.7 1.5 Likely benign 0 -382160 Simple 878854047 G . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-04-22 -6.0 0.5 Likely benign 0 -382162 Simple 1057521268 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-18 -12.0 0.5 Benign/Likely benign 1 -382164 Simple 759499251 T . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -8.7 0.6666666666666666 Benign/Likely benign 1 -382170 Simple 375911378 A . Likely benign 2 2 Brugada syndrome 8;not specified 2017-07-12 -5.7 1.0 Likely benign 0 -382177 Simple 550441767 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -8.7 0.6666666666666666 Benign/Likely benign 1 -382179 Simple 62113956 A . Likely benign 2 2 Colorectal cancer 10;not specified 2017-04-18 -5.7 1.0 Likely benign 0 -382180 Simple 142624113 C . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-19 -9.0 0.0 Benign/Likely benign 1 -382189 Simple 3092858 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -9.0 0.6666666666666666 Benign/Likely benign 1 -382191 Simple 370354306 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-10 -8.7 1.0 Benign/Likely benign 1 -382193 Simple 1057521278 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-05 -5.4 2.0 Likely benign 0 -382207 Simple 528254652 C . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -382222 Simple 148344039 T . Likely benign 2 2 not specified 2016-01-07 -5.4 2.0 Likely benign 0 -382232 Simple 1026361359 A . Likely benign 2 2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-04-17 -5.7 1.0 Likely benign 0 -382244 Simple 369837002 A . Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2016-10-26 -5.7 1.5 Likely benign 0 -382250 Simple 1057521295 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -6.0 0.0 Likely benign 0 -382252 Simple 1057521297 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-29 -5.4 2.0 Likely benign 0 -382256 Simple 767123895 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -5.7 1.0 Likely benign 0 -382259 Simple 1057521300 G . Likely benign 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -11.7 1.25 Benign/Likely benign 1 -382260 Simple 768104793 T . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-06-20 -5.7 1.0 Likely benign 0 -382266 Simple 375771045 T . Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2016-04-23 -5.7 1.5 Likely benign 0 -382289 Simple 201082550 G . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-31 -5.7 1.0 Likely benign 0 -382294 Simple 761498953 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2015-12-14 -5.1 2.5 Likely benign 0 -382310 Simple 1057521324 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-02-03 -5.7 1.5 Likely benign 0 -382312 Simple 753176146 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -8.7 0.6666666666666666 Benign/Likely benign 1 -382316 Simple 368758462 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-28 -8.4 1.3333333333333333 Benign/Likely benign 1 -382322 Simple 758718732 G . Likely benign 2 2 Dilated cardiomyopathy 1DD;not specified 2016-05-01 -5.7 1.5 Likely benign 0 -382327 Simple 145337550 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-25 -8.7 0.6666666666666666 Benign/Likely benign 1 -382334 Simple 749817666 A . Uncertain significance 2 2 Adenylosuccinate lyase deficiency;not specified 2016-09-05 -0.5700000000000001 1.5 Uncertain significance 0 -382346 Simple 1057521337 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-28 -5.7 1.5 Likely benign 0 -382353 Simple 111940956 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2016-11-26 -5.7 1.5 Likely benign 0 -382360 Simple 80257731 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-17 -9.0 0.0 Benign/Likely benign 0 -382367 Simple 56218308 C . Benign/Likely benign 2 2 Deficiency of hydroxymethylglutaryl-CoA lyase;not specified 2017-04-13 -9.0 0.5 Benign/Likely benign 0 -382370 Simple 146912721 T . Benign 2 2 not specified;3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -382390 Simple 80239182 A . Benign/Likely benign 2 2 not specified;not provided 2017-06-12 -8.4 1.0 Benign/Likely benign 0 -382411 Simple 143807229 T . Benign/Likely benign 2 2 Isovaleryl-CoA dehydrogenase deficiency;not specified 2017-10-13 -9.0 0.0 Benign/Likely benign 0 -382416 Simple 3003601 G . Benign/Likely benign 2 2 not specified;Coenzyme Q10 deficiency, primary, 7 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -382417 Simple 1057521349 G . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-08-03 -6.0 0.5 Likely benign 0 -382435 Simple 140275032 T . Benign/Likely benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-06-09 -9.0 0.5 Benign/Likely benign 0 -382438 Simple 142553521 T . Likely benign 2 2 Glutaric aciduria, type 1;not specified 2017-10-12 -6.0 0.5 Likely benign 0 -382454 Simple 141944878 T . Likely benign 2 2 Glycogen storage disease type III;not specified 2017-07-25 -6.0 0.5 Likely benign 0 -382459 Simple 34838944 C . Benign 2 2 Congenital disorder of glycosylation type 2B;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -382461 Simple 61758802 T . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -382463 Simple 61748147 A . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -382464 Simple 2949961 G . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -382473 Simple 117582762 A . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 17 2017-06-19 -8.7 1.0 Benign/Likely benign 0 -382487 Simple 923770168 C . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-08-03 -6.0 0.5 Likely benign 0 -382488 Simple 1057521370 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-27 -5.4 2.0 Likely benign 0 -382502 Simple 370760069 A . Likely benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2016-11-30 -5.7 1.5 Likely benign 0 -382509 Simple 140185156 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-17 -8.4 1.6666666666666667 Benign/Likely benign 1 -382510 Simple 764657974 C . Likely benign 2 2 Hereditary diffuse gastric cancer;not specified 2017-03-16 -5.7 1.0 Likely benign 0 -382514 Simple 373016916 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-10-30 -9.0 0.0 Benign/Likely benign 1 -382516 Simple 80358541 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-05-25 -6.0 0.5 Likely benign 0 -382526 Simple 752088834 T . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -9.0 0.6666666666666666 Benign/Likely benign 1 -382537 Simple 139748472 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-11 -8.7 0.6666666666666666 Benign/Likely benign 1 -382543 Simple 772562489 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -11.7 0.75 Benign/Likely benign 1 -382544 Simple 1057521381 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2016-05-28 -5.7 1.5 Likely benign 0 -382546 Simple 758378272 A . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-08-22 -9.0 0.5 Benign/Likely benign 0 -382551 Simple 760315494 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-08 -5.7 1.5 Likely benign 0 -382553 Simple 1057521383 C . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -8.7 1.0 Benign/Likely benign 1 -382554 Simple 1040269464 A . Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-10 -11.4 1.0 Benign/Likely benign 1 -382556 Simple 1057521386 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -6.0 0.5 Likely benign 0 -382557 Simple 772402355 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -5.7 1.0 Likely benign 0 -382567 Simple 184947396 A . Likely benign 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-07-31 -6.0 0.0 Likely benign 0 -382569 Simple 73102625 C . Benign/Likely benign 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-05-02 -9.0 0.5 Benign/Likely benign 0 -382576 Simple 142832902 T . Likely benign 2 2 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified 2017-07-07 -6.0 0.0 Likely benign 0 -382605 Simple 782063013 A . Likely benign 2 2 not specified 2016-07-14 -5.7 1.5 Likely benign 0 -382608 Simple 141996297 A . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 27 2017-07-17 -11.4 1.0 Benign/Likely benign 1 -382629 Simple 782298419 T . Likely benign 2 2 not specified;Brown-Vialetto-Van Laere syndrome 2 2017-07-17 -6.0 0.5 Likely benign 0 -382632 Simple 750349055 C . Likely benign 2 2 Charcot-Marie-Tooth disease type 2F;not specified 2017-08-04 -6.0 0.0 Likely benign 0 -382636 Simple 141094419 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type I;not specified 2017-02-27 -9.0 1.0 Benign/Likely benign 0 -382637 Simple 146061247 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-12 -9.0 0.5 Benign/Likely benign 0 -382652 Simple 965942065 G . Likely benign 2 2 Juvenile polyposis syndrome;not specified 2016-12-29 -6.0 1.0 Likely benign 0 -382654 Simple 772191770 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-17 -12.0 0.0 Benign/Likely benign 1 -382661 Simple 1049764 T . Likely benign 2 2 Mental retardation, autosomal dominant 7;not specified 2017-08-02 -6.0 0.0 Likely benign 0 -382662 Simple 782713602 A . Benign/Likely benign 2 2 Mental retardation, X-linked 1;not specified 2017-06-27 -8.7 1.0 Benign/Likely benign 0 -382678 Simple 746475325 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -8.7 1.0 Benign/Likely benign 1 -382681 Simple 115671018 A . Benign/Likely benign 2 3 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-09-22 -12.0 0.3333333333333333 Benign/Likely benign 0 -382683 Simple 74030232 G . Benign/Likely benign 2 3 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-06-13 -12.0 0.0 Benign/Likely benign 0 -382688 Simple 185874005 A . Benign 2 2 not specified;not provided 2017-05-04 -11.4 1.0 Benign/Likely benign 1 -382699 Simple 775867327 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-18 -8.4 1.3333333333333333 Benign/Likely benign 1 -382708 Simple 1057521429 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -8.7 1.0 Benign/Likely benign 1 -382712 Simple 149513974 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-31 -8.7 0.6666666666666666 Benign/Likely benign 1 -382713 Simple 1057521432 G . Likely benign 2 2 Familial cancer of breast;not specified 2017-08-08 -5.7 1.0 Likely benign 0 -382718 Simple 376234285 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-07-25 -8.7 1.0 Benign/Likely benign 0 -382727 Simple 74030232 C . Benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-06-01 -12.0 0.5 Benign/Likely benign 1 -382728 Simple 376421364 G . Likely benign 2 2 Creatine deficiency, X-linked;not specified 2017-10-10 -6.0 0.0 Likely benign 0 -382732 Simple 202244266 G . Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-09-01 -6.0 0.0 Likely benign 0 -382744 Simple 149474376 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-11-06 -9.0 0.0 Benign/Likely benign 0 -382745 Simple 189695070 A . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-07-12 -6.0 0.0 Likely benign 0 -382746 Simple 1057521441 A . Likely benign 2 2 Lynch syndrome;not specified 2016-11-28 -6.0 1.0 Likely benign 0 -382747 Simple 116812032 A . Likely benign 2 2 Glycogen storage disease, type V;not specified 2017-07-24 -6.0 0.0 Likely benign 0 -382750 Simple 181688415 T . Benign/Likely benign 2 2 not specified;not provided 2017-09-18 -8.4 1.0 Benign/Likely benign 0 -382763 Simple 202102758 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-04-21 -12.0 0.5 Benign/Likely benign 1 -382766 Simple 1057521447 A . Likely benign 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-06-06 -5.7 1.0 Likely benign 0 -382771 Simple 1057521451 A . Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-05-25 -5.7 1.0 Likely benign 0 -382783 Simple 374859 T . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 27 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -382786 Simple 17853996 T . Benign/Likely benign 2 2 Glycogen storage disease, type II;not specified 2017-09-14 -9.0 0.0 Benign/Likely benign 0 -382792 Simple 13375853 G . Benign/Likely benign 2 2 not specified;Multiple mitochondrial dysfunctions syndrome 3;Spastic paraplegia 74, autosomal recessive 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -382799 Simple 201959100 A . Benign 2 2 Congenital disorder of glycosylation type 1I;not specified;Myasthenic syndrome, congenital, 14 2017-06-27 -12.0 0.5 Benign/Likely benign 1 -382816 Simple 372218308 A . Benign/Likely benign 2 2 not specified;Dilated cardiomyopathy 1KK 2016-12-24 -8.7 1.5 Benign/Likely benign 0 -382825 Simple 75015217 C . Benign/Likely benign 2 2 not specified;not provided 2017-06-01 -8.4 1.0 Benign/Likely benign 0 -382827 Simple 758368160 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -6.0 0.5 Likely benign 0 -382828 Simple 1012545817 T . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2016-10-07 -5.7 1.5 Likely benign 0 -382830 Simple 768342908 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -5.7 1.0 Likely benign 0 -382834 Simple 915331738 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-09 -5.7 1.0 Likely benign 0 -382838 Simple 1057521466 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-14 -5.7 1.5 Likely benign 0 -382839 Simple 140163819 T . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-18 -5.7 1.0 Likely benign 0 -382860 Simple 7249722 T . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-13 -9.0 0.5 Benign/Likely benign 0 -382861 Simple 112283537 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-07-03 -11.4 1.0 Benign/Likely benign 1 -382865 Simple 116335289 T . Benign/Likely benign 2 2 not specified;not provided 2017-04-19 -8.4 1.0 Benign/Likely benign 0 -382866 Simple 115623280 T . Benign/Likely benign 2 2 not specified;not provided 2017-04-19 -8.4 1.0 Benign/Likely benign 0 -382869 Simple 55854596 C . Benign 2 3 Mental retardation, autosomal dominant 7;not specified 2017-07-21 -17.4 0.6666666666666666 Benign/Likely benign 1 -382871 Simple 191892345 A . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-18 -8.7 1.0 Benign/Likely benign 0 -382878 Simple 145987906 C . Likely benign 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -8.4 1.3333333333333333 Benign/Likely benign 1 -382900 Simple 149932476 G . Benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-08-09 -11.4 1.0 Benign/Likely benign 1 -382906 Simple 140461419 T . Likely benign 2 2 not specified 2016-01-27 -5.4 2.0 Likely benign 0 -382914 Simple 959165669 G . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-05-01 -0.6 0.5 Uncertain significance 0 -382926 Simple 36071326 T . Benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 2017-08-02 -11.4 1.0 Benign/Likely benign 1 -382935 Simple 34512715 T . Benign/Likely benign 2 2 not specified;not provided 2017-09-18 -8.4 1.0 Benign/Likely benign 0 -382936 Simple 537431085 G . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -382937 Simple 782726368 A . Likely benign 2 2 Mental retardation, X-linked 1;not specified 2017-10-26 -6.0 0.0 Likely benign 0 -382940 Simple 41306488 T . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 31 2017-08-07 -9.0 0.0 Benign/Likely benign 0 -382941 Simple 76932500 G . Benign 2 2 not specified;Hyperphosphatasia with mental retardation syndrome 2 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -382943 Simple 149678923 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-05-16 -12.0 0.5 Benign/Likely benign 1 -382946 Simple 1057521491 G . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-04-23 -6.0 0.5 Likely benign 0 -382949 Simple 876658875 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-28 -5.7 1.0 Likely benign 0 -382955 Simple 2286334 T . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 17 2017-04-20 -12.0 0.5 Benign/Likely benign 1 -382986 Simple 17058965 C . Likely benign 2 2 not specified;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 -6.0 0.0 Likely benign 0 -383001 Simple 61748146 G . Benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -383008 Simple 182943508 A . Benign 2 2 not specified 2017-04-21 -12.0 0.5 Benign/Likely benign 1 -383015 Simple 779159186 G . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-24 -8.7 1.3333333333333333 Benign/Likely benign 1 -383022 Simple 139393309 A . Benign/Likely benign 2 2 not specified;Spastic paraplegia 54, autosomal recessive 2017-05-30 -9.0 0.5 Benign/Likely benign 0 -383033 Simple 61598773 A . Benign/Likely benign 2 2 Propionic acidemia;not specified 2017-09-18 -9.0 0.5 Benign/Likely benign 0 -383038 Simple 139387463 A . Likely benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-06-21 -6.0 0.0 Likely benign 0 -383041 Simple 146079657 A . Benign/Likely benign 2 2 not specified;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 2016-06-01 -8.7 1.5 Benign/Likely benign 0 -383068 Simple 201012245 T . Likely benign 2 2 Mental retardation, autosomal dominant 8;not specified 2017-04-25 -6.0 0.5 Likely benign 0 -383074 Simple 1002791506 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -6.0 1.0 Likely benign 0 -383080 Simple 377467465 A . Likely benign 2 2 Charcot-Marie-Tooth disease, type I;not specified 2017-07-03 -5.7 1.0 Likely benign 0 -383085 Simple 142642528 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-09-07 -9.0 0.5 Benign/Likely benign 0 -383090 Simple 77895180 T . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2016-11-01 -12.0 1.0 Benign/Likely benign 1 -383091 Simple 116022337 A . Benign/Likely benign 2 2 not specified;not provided 2017-08-11 -8.4 1.0 Benign/Likely benign 0 -383092 Simple 2964779 C . Benign 2 2 not specified;Intellectual disability 2017-06-03 -11.4 1.0 Benign/Likely benign 1 -383096 Simple 75579358 T . Benign 2 2 not specified;Hyperphosphatasia with mental retardation syndrome 2 2017-07-27 -11.4 1.0 Benign/Likely benign 1 -383097 Simple 138685078 G . Benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-07-26 -11.4 1.0 Benign/Likely benign 1 -383111 Simple 74533173 A . Benign/Likely benign 2 2 Lethal multiple pterygium syndrome;not specified 2017-08-04 -8.7 1.0 Benign/Likely benign 0 -383113 Simple 201428060 T . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-05-19 -6.0 0.5 Likely benign 0 -383114 Simple 78281659 T . Benign 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-06-15 -12.0 0.5 Benign/Likely benign 1 -383116 Simple 111337293 T . Benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-10 -12.0 0.5 Benign/Likely benign 1 -383117 Simple 201148765 G . Benign/Likely benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-07-07 -9.0 0.5 Benign/Likely benign 0 -383118 Simple 187637065 C . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-06-06 -8.7 1.0 Benign/Likely benign 0 -383124 Simple 201088847 T . Benign/Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-06-27 -9.0 0.0 Benign/Likely benign 0 -383140 Simple 139299266 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -8.4 1.3333333333333333 Benign/Likely benign 1 -383142 Simple 1057521527 G . Likely benign 2 2 Colorectal cancer 10;not specified 2017-04-11 -5.7 1.0 Likely benign 0 -383145 Simple 781889769 A . Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-04-12 -5.7 1.0 Likely benign 0 -383157 Simple 1057521533 A . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -9.0 0.6666666666666666 Benign/Likely benign 1 -383161 Simple 377245595 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-15 -8.4 1.3333333333333333 Benign/Likely benign 1 -383162 Simple 114978673 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -383165 Simple 148232368 T . Benign/Likely benign 2 2 Creatine deficiency, X-linked;not specified 2017-07-10 -9.0 0.0 Benign/Likely benign 0 -383173 Simple 1057521540 G . Likely benign 2 2 Tuberous sclerosis 2;not specified 2016-11-08 -5.7 1.5 Likely benign 0 -383182 Simple 751586391 T . Benign/Likely benign 2 4 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-28 -14.7 1.0 Benign/Likely benign 0 -383183 Simple 1057521544 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-13 -5.7 1.5 Likely benign 0 -383193 Simple 1057521549 A . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-05-06 -5.7 1.0 Likely benign 0 -383197 Simple 61747632 T . Likely benign 2 2 Hereditary diffuse gastric cancer;not specified 2016-07-09 -5.7 1.5 Likely benign 0 -383198 Simple 143102561 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-18 -5.7 1.0 Likely benign 0 -383202 Simple 780870669 C . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-12 -9.0 0.6666666666666666 Benign/Likely benign 1 -383214 Simple 199703765 A . Likely benign 2 2 Muscular dystrophy, congenital, megaconial type;not specified 2016-10-15 -6.0 1.0 Likely benign 0 -383221 Simple 373404887 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -8.7 0.6666666666666666 Benign/Likely benign 1 -383226 Simple 112735799 A . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-08-16 -11.4 1.0 Benign/Likely benign 1 -383230 Simple 77325628 C . Benign 2 3 not specified;Epileptic encephalopathy, early infantile, 31 2017-07-03 -17.4 0.6666666666666666 Benign/Likely benign 1 -383234 Simple 116006955 A . Benign/Likely benign 2 3 Mental retardation, autosomal dominant 8;not specified 2017-06-14 -14.4 1.0 Benign/Likely benign 0 -383235 Simple 200695210 T . Benign 2 2 Creatine deficiency, X-linked;not specified 2017-08-03 -11.4 1.0 Benign/Likely benign 1 -383245 Simple 141560881 T . Likely benign 2 2 Bethlem myopathy 1;not specified 2016-06-13 -5.7 1.5 Likely benign 0 -383248 Simple 77238446 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-07-17 -12.0 0.5 Benign/Likely benign 1 -383252 Simple 61754100 C . Likely benign 2 2 Myopathy, congenital, compton-north;not specified 2017-10-25 -6.0 0.0 Likely benign 0 -383254 Simple 201530285 A . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-03-28 -5.7 1.0 Likely benign 0 -383257 Simple 138058326 A . Benign/Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-07-18 -9.0 0.5 Benign/Likely benign 0 -383318 Simple 756420858 A . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-04-29 -5.7 1.0 Likely benign 0 -383319 Simple 780192529 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-14 -5.7 1.5 Likely benign 0 -383326 Simple 117156117 C . Benign 2 2 not specified;Spastic paraplegia 2017-06-19 -12.0 0.5 Benign/Likely benign 1 -383328 Simple 116974302 T . Benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -383339 Simple 777822181 C . Likely benign 2 2 Hereditary diffuse gastric cancer;not specified 2017-07-21 -5.7 1.0 Likely benign 0 -383343 Simple 1057521592 T . Likely benign 2 2 Hereditary diffuse gastric cancer;not specified 2017-05-31 -6.0 0.0 Likely benign 0 -383347 Simple 138086853 A . Benign 2 3 Mental retardation, autosomal dominant 7;not specified 2017-04-18 -18.0 0.3333333333333333 Benign/Likely benign 1 -383354 Simple 900258843 A . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-07-28 -5.7 1.0 Likely benign 0 -383362 Simple 149364097 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-18 -0.5700000000000001 1.5 Uncertain significance 0 -383375 Simple 142019870 C . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-01-06 -8.7 1.3333333333333333 Benign/Likely benign 1 -383376 Simple 538419476 A . Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -11.4 1.25 Benign/Likely benign 1 -383382 Simple 755659438 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-05 -5.7 1.0 Likely benign 0 -383383 Simple 111470596 C . Benign/Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-27 -9.0 0.0 Benign/Likely benign 0 -383387 Simple 1057521608 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -5.7 1.0 Likely benign 0 -383403 Simple 2272460 T . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-05-15 -12.0 0.5 Benign/Likely benign 1 -383407 Simple 145570974 A . Likely benign 2 2 not specified;Intellectual disability 2017-09-07 -6.0 0.0 Likely benign 0 -383415 Simple 1057521618 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-13 -0.6 0.5 Uncertain significance 0 -383417 Simple 769563176 T . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -11.7 0.75 Benign/Likely benign 1 -383419 Simple 758944840 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -5.7 1.0 Likely benign 0 -383428 Simple 370050587 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-08 -5.7 1.5 Likely benign 0 -383436 Simple 12005420 G . Benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-12 -11.4 1.0 Benign/Likely benign 1 -383455 Simple 1057521633 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-06 -5.4 2.0 Likely benign 0 -383465 Simple 200645836 A . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-06-05 -9.0 0.5 Benign/Likely benign 0 -383473 Simple 145857775 G . Benign/Likely benign 2 2 Mental retardation, autosomal dominant 7;not specified 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -383475 Simple 751690840 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;not specified 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -383497 Simple 140082252 T . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 27 2017-05-19 -12.0 0.5 Benign/Likely benign 1 -383513 Simple 183032531 G . Benign 2 3 not specified;Epileptic encephalopathy, early infantile, 36 2017-06-28 -18.0 0.3333333333333333 Benign/Likely benign 1 -383544 Simple 780578558 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-24 -5.7 1.0 Likely benign 0 -383552 Simple 762692063 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -383561 Simple 201334592 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -8.7 1.0 Benign/Likely benign 1 -383562 Simple 1057521673 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -8.7 0.6666666666666666 Benign/Likely benign 1 -383571 Simple 781725830 C . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -9.0 0.6666666666666666 Benign/Likely benign 1 -383575 Simple 756522395 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2016-11-21 -6.0 1.0 Likely benign 0 -383578 Simple 778655093 A . Likely benign 3 5 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.7 1.0 Benign/Likely benign 1 -383592 Simple 763236829 T . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-03-25 -5.7 1.0 Likely benign 0 -383595 Simple 372583830 G . Uncertain significance 2 2 Myofibrillar myopathy, ZASP-related;not specified 2017-01-16 -0.6 1.0 Uncertain significance 0 -383604 Simple 143490560 C . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 8;not specified 2017-03-13 -9.0 0.5 Benign/Likely benign 0 -383609 Simple 201234869 T . Benign/Likely benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-07-11 -9.0 0.0 Benign/Likely benign 0 -383617 Simple 541442732 C . Benign/Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-03-16 -8.7 1.0 Benign/Likely benign 0 -383623 Simple 199918785 T . Likely benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-02-18 -6.0 1.0 Likely benign 0 -383643 Simple 75783429 A . Benign 2 2 Mental retardation, autosomal dominant 8;not specified 2017-07-28 -11.4 1.0 Benign/Likely benign 1 -383653 Simple 143431217 G . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-02-23 -9.0 1.0 Benign/Likely benign 0 -383657 Simple 376858768 C . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2016-11-18 -5.7 1.5 Likely benign 0 -383663 Simple 78970955 A . Benign 2 2 Ataxia, spastic, 2, autosomal recessive;not specified 2017-04-20 -12.0 0.5 Benign/Likely benign 1 -383670 Simple 1057521706 G . Uncertain significance 2 2 not specified;not provided 2016-11-30 -0.6 1.0 Uncertain significance 0 -383680 Simple 749802464 C . Likely benign 2 2 Koolen-de Vries syndrome;not specified 2017-03-26 -5.7 1.0 Likely benign 0 -383693 Simple 115107511 A . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-07-11 -12.0 0.5 Benign/Likely benign 1 -383702 Simple 201050276 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-11 -5.7 1.5 Likely benign 0 -383712 Simple 374074035 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-14 -9.0 0.6666666666666666 Benign/Likely benign 1 -383716 Simple 200161440 T . Benign/Likely benign 2 2 not specified;Joubert syndrome 21 2017-05-06 -9.0 0.5 Benign/Likely benign 0 -383719 Simple 144543830 T . Likely benign 2 2 Orofacial-digital syndrome IV;not specified;Joubert syndrome 18 2017-06-21 -6.0 0.0 Likely benign 0 -383726 Simple 147235870 G . Benign/Likely benign 2 2 Hereditary sensory neuropathy type IE;not specified 2017-05-12 -8.7 1.0 Benign/Likely benign 0 -383727 Simple 1065083 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease type 2E;not specified 2017-06-15 -15.0 0.6666666666666666 Benign/Likely benign 0 -383739 Simple 1057521721 A . Likely pathogenic 2 2 not provided;Disrupted sleep-wake cycle with developmental delay and learning difficulty 2017-05-25 6.0 0.5 Likely pathogenic 0 -383745 Simple 1057521723 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -5.7 1.0 Likely benign 0 -383756 Simple 112034360 G . Benign 2 2 Alstrom syndrome;not specified 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -383766 Simple 41316723 T . Benign 2 2 Osteogenesis imperfecta type I;not specified 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -383768 Simple 7598901 T . Benign 2 2 Alstrom syndrome;not specified 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -383773 Simple 28730854 T . Benign 2 3 Alstrom syndrome;not specified;Monogenic diabetes 2017-07-28 -18.0 0.6666666666666666 Benign/Likely benign 1 -383787 Simple 370158852 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;not specified 2016-12-20 -0.6 1.0 Uncertain significance 0 -383803 Simple 1057521737 C . Pathogenic/Likely pathogenic 2 2 Rubinstein-Taybi syndrome 2;not provided 2017-03-09 8.7 1.0 Pathogenic/Likely pathogenic 0 -383809 Simple 757780962 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-08 -5.4 2.0 Likely benign 0 -383832 Simple 377721017 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-02-09 -5.7 1.5 Likely benign 0 -383834 Simple 781735549 A . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -11.7 0.75 Benign/Likely benign 1 -383837 Simple 150020474 A . Likely benign 2 3 Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -8.7 1.0 Benign/Likely benign 1 -383838 Simple 1057521751 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-21 -5.7 1.0 Likely benign 0 -383856 Simple 969795398 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-16 -5.7 1.0 Likely benign 0 -383857 Simple 1057521763 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -5.7 1.0 Likely benign 0 -383861 Simple 559839676 G . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-09-01 -6.0 0.0 Likely benign 0 -383866 Simple 145849008 A . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-04-12 -5.7 1.0 Likely benign 0 -383871 Simple 111534551 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 31 2017-05-16 -12.0 0.5 Benign/Likely benign 1 -383878 Simple 61737389 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-07-06 -11.4 1.0 Benign/Likely benign 1 -383879 Simple 372257864 A . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-07-06 -11.4 1.0 Benign/Likely benign 1 -383888 Simple 782694291 A . Benign/Likely benign 2 2 Creatine deficiency, X-linked;not specified 2017-10-26 -9.0 0.0 Benign/Likely benign 0 -383889 Simple 200259257 T . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -383891 Simple 192913494 G . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 31 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -383916 Simple 574817590 C . Likely benign 2 2 not specified;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 2017-05-11 -6.0 0.5 Likely benign 0 -383917 Simple 34043652 A . Benign 2 2 not specified;Coenzyme Q10 deficiency, primary, 7 2017-07-11 -12.0 0.5 Benign/Likely benign 1 -383928 Simple 1057521782 T . Likely benign 2 2 Mental retardation, X-linked 1;not specified 2017-03-16 -5.7 1.0 Likely benign 0 -383935 Simple 1057521787 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-12 -5.7 1.0 Likely benign 0 -383950 Simple 779865638 T . Likely benign 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-05-10 -6.0 0.5 Likely benign 0 -383956 Simple 757866392 A . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -8.7 1.0 Benign/Likely benign 1 -383961 Simple 762838377 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-27 -8.7 0.6666666666666666 Benign/Likely benign 1 -383967 Simple 1057521801 G . Pathogenic/Likely pathogenic 2 2 Mucopolysaccharidosis, MPS-III-A;not provided 2017-04-26 9.0 0.5 Pathogenic/Likely pathogenic 0 -383968 Simple 1057521802 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-22 -8.7 1.0 Benign/Likely benign 1 -383980 Simple 17502618 T . Benign 2 2 not specified;Spastic paraplegia 53, autosomal recessive 2017-05-25 -12.0 0.5 Benign/Likely benign 1 -383983 Simple 782051125 C . Benign/Likely benign 2 2 Mental retardation, X-linked 1;not specified 2017-07-21 -9.0 0.0 Benign/Likely benign 0 -383988 Simple 522776 A . Benign 2 2 Spastic paraplegia 39;not specified 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -384007 Simple 543436497 A . Likely benign 2 2 not specified 2017-03-22 -5.7 1.0 Likely benign 0 -384009 Simple 753515426 G . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-02-21 -6.0 1.0 Likely benign 0 -384026 Simple 377173101 A . Likely benign 2 2 Long QT syndrome;not specified 2017-04-18 -5.7 1.0 Likely benign 0 -384029 Simple 202188345 A . Likely benign 2 2 Brugada syndrome 8;not specified 2016-12-25 -5.7 1.5 Likely benign 0 -384044 Simple 369726574 T . Likely benign 2 2 Creatine deficiency, X-linked;not specified 2017-06-08 -6.0 0.5 Likely benign 0 -384051 Simple 753797045 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -8.4 1.3333333333333333 Benign/Likely benign 1 -384053 Simple 1000162996 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-20 -8.7 1.3333333333333333 Benign/Likely benign 1 -384060 Simple 1057521840 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-14 -5.7 1.0 Likely benign 0 -384063 Simple 370541345 T . Likely benign 2 2 not specified 2016-11-02 -6.0 1.0 Likely benign 0 -384078 Simple 765777662 C . Likely benign 2 2 Koolen-de Vries syndrome;not specified 2017-05-12 -6.0 0.0 Likely benign 0 -384086 Simple 149632554 T . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-07-14 -9.0 0.0 Benign/Likely benign 0 -384095 Simple 755634695 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-23 -5.4 2.0 Likely benign 0 -384096 Simple 1057521856 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-18 -5.7 1.5 Likely benign 0 -384098 Simple 747805018 A . Likely benign 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -9.0 0.6666666666666666 Benign/Likely benign 1 -384102 Simple 142649208 T . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -8.7 0.6666666666666666 Benign/Likely benign 1 -384109 Simple 201460863 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -8.7 1.0 Benign/Likely benign 1 -384116 Simple 963813695 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -8.7 0.6666666666666666 Benign/Likely benign 1 -384120 Simple 1057521868 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -5.7 1.0 Likely benign 0 -384124 Simple 1057521872 A . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-01-31 -5.7 1.5 Likely benign 0 -384126 Simple 1057521874 G . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -8.7 0.6666666666666666 Benign/Likely benign 1 -384136 Simple 540422455 T . Benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-05-18 -12.0 0.5 Benign/Likely benign 1 -384137 Simple 199541666 A . Likely benign 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-07-26 -6.0 0.5 Likely benign 0 -384142 Simple 375130004 C . Likely benign 2 2 Mental retardation, autosomal dominant 7;not specified 2017-08-23 -6.0 0.5 Likely benign 0 -384143 Simple 113110833 T . Benign/Likely benign 2 2 Mental retardation, autosomal dominant 7;not specified 2017-03-29 -9.0 0.5 Benign/Likely benign 0 -384148 Simple 193042896 T . Likely benign 2 2 Nemaline myopathy 2;not specified 2017-07-03 -6.0 0.5 Likely benign 0 -384172 Simple 374638286 A . Likely benign 2 2 Mental retardation, X-linked 1;not specified 2017-02-23 -6.0 1.0 Likely benign 0 -384175 Simple 182330071 C . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-05-24 -12.0 0.5 Benign/Likely benign 1 -384176 Simple 1057521886 G . Uncertain significance 2 2 Familial hemiplegic migraine;not specified 2016-10-31 -0.6 1.0 Uncertain significance 0 -384188 Simple 1057521890 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-06 -5.7 1.5 Likely benign 0 -384189 Simple 756171672 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.25 Benign/Likely benign 1 -384190 Simple 370669642 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -11.7 0.75 Benign/Likely benign 1 -384191 Simple 370133842 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-09-25 -8.7 1.3333333333333333 Benign/Likely benign 1 -384193 Simple 863224303 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -384204 Simple 35969420 C . Benign/Likely benign 2 2 Maple syrup urine disease;not specified 2017-05-23 -9.0 0.0 Benign/Likely benign 0 -384206 Simple 111903796 T . Benign/Likely benign 2 2 Maple syrup urine disease;not specified 2017-05-23 -9.0 0.0 Benign/Likely benign 0 -384216 Simple 76988055 T . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 27 2017-03-17 -9.0 0.5 Benign/Likely benign 0 -384222 Simple 730880105 C . Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-05-02 5.7 1.0 Likely pathogenic 0 -384233 Simple 138251296 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-01-30 -6.0 1.0 Likely benign 0 -384247 Simple 62621067 T . Benign/Likely benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-06-20 -9.0 0.0 Benign/Likely benign 0 -384255 Simple 112668461 G . Benign/Likely benign 2 2 not specified;not provided 2017-08-31 -9.0 0.5 Benign/Likely benign 0 -384260 Simple 112793062 C . Benign/Likely benign 2 2 3-methylcrotonyl CoA carboxylase 2 deficiency;not specified 2017-04-28 -9.0 0.5 Benign/Likely benign 0 -384275 Simple 773793586 T . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-06-06 -6.0 0.5 Likely benign 0 -384297 Simple 62640003 G . Benign/Likely benign 2 2 not specified;Pontocerebellar hypoplasia, type 1b 2017-05-30 -9.0 0.5 Benign/Likely benign 0 -384307 Simple 114694892 T . Benign/Likely benign 2 3 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2017-06-22 -12.0 0.6666666666666666 Benign/Likely benign 0 -384320 Simple 1057521920 G . Uncertain significance 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -384322 Simple 1057521922 A . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-08-31 15.0 0.0 Pathogenic 1 -384323 Simple 778681919 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -11.1 1.25 Benign/Likely benign 1 -384325 Simple 769586752 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -8.7 1.0 Benign/Likely benign 1 -384334 Simple 1057521927 A . Pathogenic/Likely pathogenic 2 1 not provided;Abnormality of brain morphology;Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2017-09-19 . 1.0 . 0 -384335 Simple 767769359 A . Pathogenic/Likely pathogenic 2 1 not provided;Abnormality of brain morphology;Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2017-09-19 . 1.0 . 0 -384349 Simple 747173903 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-10-03 -8.4 1.6666666666666667 Benign/Likely benign 1 -384352 Simple 200649908 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2016-10-05 -8.7 1.3333333333333333 Benign/Likely benign 1 -384358 Simple 773500215 T . Likely benign 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified 2017-07-31 -6.0 0.5 Likely benign 0 -384361 Simple 1057521935 A . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-03-16 -5.7 1.0 Likely benign 0 -384370 Simple 202160831 T . Likely benign 2 2 not specified;not provided 2017-10-17 -6.0 0.0 Likely benign 0 -384397 Simple 190159225 G . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-06-13 -12.0 0.5 Benign/Likely benign 1 -384405 Simple 79219767 A . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-03-28 -12.0 0.5 Benign/Likely benign 1 -384407 Simple 749531013 T . Likely benign 2 2 Epilepsy, childhood absence 2;Familial febrile seizures 8;not specified 2017-08-31 -6.0 0.5 Likely benign 0 -384410 Simple 41292388 T . Benign/Likely benign 2 3 Brody myopathy;not specified 2017-10-27 -15.0 0.3333333333333333 Benign/Likely benign 0 -384417 Simple 150640503 G . Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-05-16 -6.0 0.5 Likely benign 0 -384445 Simple 759823001 T . Likely benign 2 2 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-03-22 -5.7 1.0 Likely benign 0 -384447 Simple 770089112 C . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-08-02 -5.7 1.0 Likely benign 0 -384449 Simple 143158930 T . Benign/Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-18 -9.0 0.5 Benign/Likely benign 0 -384453 Simple 1057521957 G . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-08 -5.7 1.0 Likely benign 0 -384459 Simple 1057521959 G . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -9.0 0.0 Benign/Likely benign 1 -384461 Simple 876659210 T . Likely benign 2 2 Familial cancer of breast;not specified 2017-03-01 -5.7 1.5 Likely benign 0 -384466 Simple 1057521964 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-12 -8.4 1.3333333333333333 Benign/Likely benign 1 -384468 Simple 146902214 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-08 -8.7 0.6666666666666666 Benign/Likely benign 1 -384473 Simple 190676487 A . Benign/Likely benign 2 2 not specified 2016-12-22 -9.0 1.0 Benign/Likely benign 0 -384477 Simple 779912733 A . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-07-05 -6.0 0.0 Likely benign 0 -384488 Simple 141016655 A . Likely benign 2 3 Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-21 -9.0 0.3333333333333333 Benign/Likely benign 1 -384492 Simple 62642461 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-19 -9.0 0.0 Benign/Likely benign 0 -384502 Simple 7854035 T . Likely benign 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified 2017-11-02 -6.0 0.0 Likely benign 0 -384514 Simple 56218020 T . Likely benign 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -9.0 0.3333333333333333 Benign/Likely benign 1 -384515 Simple 778836055 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -384529 Simple 1057521982 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.0 Benign/Likely benign 1 -384532 Simple 72541812 T . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -384540 Simple 1057521987 A . Uncertain significance 2 2 not specified 2017-05-04 -0.6 0.5 Uncertain significance 0 -384558 Simple 767234031 G . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-04-20 -6.0 0.5 Likely benign 0 -384573 Simple 142355575 G . Benign/Likely benign 2 2 Renal carnitine transport defect;not specified 2017-08-10 -9.0 0.0 Benign/Likely benign 0 -384574 Simple 140495935 T . Benign/Likely benign 2 2 Renal carnitine transport defect;not specified 2017-08-03 -9.0 0.0 Benign/Likely benign 0 -384587 Simple 150539591 C . Benign/Likely benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-05-02 -9.0 0.5 Benign/Likely benign 0 -384608 Simple 145510600 T . Likely benign 2 2 Myopathy, congenital, compton-north;not specified 2017-07-24 -6.0 0.5 Likely benign 0 -384610 Simple 183104951 T . Benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -384612 Simple 148560273 A . Benign 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-07-17 -12.0 0.5 Benign/Likely benign 1 -384615 Simple 763931959 T . Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-04-07 -6.0 0.5 Likely benign 0 -384616 Simple 376935572 A . Benign/Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-09-29 -9.0 0.0 Benign/Likely benign 0 -384620 Simple 199987321 T . Benign/Likely benign 2 2 Focal segmental glomerulosclerosis 5;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-05-30 -9.0 0.0 Benign/Likely benign 0 -384636 Simple 202113794 G . Likely benign 2 2 not specified;not provided 2017-08-16 -6.0 0.0 Likely benign 0 -384642 Simple 141018126 T . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-08-01 -9.0 0.0 Benign/Likely benign 0 -384644 Simple 147516683 G . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2017-05-11 -6.0 0.5 Likely benign 0 -384650 Simple 377516058 T . Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-04-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -384663 Simple 751460179 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-24 -6.0 0.5 Likely benign 0 -384679 Simple 773044699 T . Likely benign 2 2 Hereditary diffuse gastric cancer;not specified 2017-05-01 -6.0 0.5 Likely benign 0 -384694 Simple 17150692 A . Benign 2 2 not specified;Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -384704 Simple 758277755 C . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-04-24 -6.0 0.5 Likely benign 0 -384707 Simple 2293576 A . Benign 2 2 not specified 2016-09-30 -12.0 1.0 Benign/Likely benign 1 -384712 Simple 144391749 A . Benign 2 2 not specified;Noonan syndrome 9 2017-07-10 -12.0 0.5 Benign/Likely benign 1 -384722 Simple 755087452 G . Likely benign 2 2 not specified 2016-11-25 -5.7 1.5 Likely benign 0 -384725 Simple 56179521 T . Benign 2 2 not specified 2017-01-18 -12.0 1.0 Benign/Likely benign 1 -384730 Simple 148706063 T . Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-04-03 -6.0 0.5 Likely benign 0 -384732 Simple 36061366 T . Benign/Likely benign 2 3 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-08-02 -15.0 0.3333333333333333 Benign/Likely benign 0 -384737 Simple 782259899 A . Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-06-13 -6.0 0.5 Likely benign 0 -384743 Simple 61730282 T . Benign/Likely benign 2 2 DiGeorge sequence;not specified 2017-07-04 -9.0 0.5 Benign/Likely benign 0 -384744 Simple 1057522036 T . Likely benign 2 2 Familial cancer of breast;not specified 2016-06-29 -6.0 1.0 Likely benign 0 -384746 Simple 111588500 T . Likely benign 2 2 not specified;Brown-Vialetto-Van Laere syndrome 2 2017-07-28 -6.0 0.5 Likely benign 0 -384758 Simple 143154982 T . Likely benign 2 3 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-06-14 -9.0 0.6666666666666666 Benign/Likely benign 1 -384797 Simple 139257109 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-03-27 -9.0 0.0 Benign/Likely benign 0 -384803 Simple 138626801 A . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-07-13 -12.0 0.5 Benign/Likely benign 1 -384806 Simple 758321599 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-01-31 -8.7 1.3333333333333333 Benign/Likely benign 1 -384810 Simple 35372714 T . Benign/Likely benign 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified;not provided 2017-10-20 -12.0 0.0 Benign/Likely benign 0 -384818 Simple 61755579 T . Benign 2 2 not specified;Noonan syndrome 9 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -384827 Simple 61738905 A . Likely benign 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2016-12-27 -6.0 1.0 Likely benign 0 -384842 Simple 202237336 G . Likely benign 2 2 not specified 2016-07-01 -6.0 1.0 Likely benign 0 -384843 Simple 139076605 A . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-10-27 -9.0 0.0 Benign/Likely benign 0 -384844 Simple 150722760 A . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-04-29 -9.0 0.5 Benign/Likely benign 0 -384862 Simple 140063541 T . Benign/Likely benign 2 2 not specified;RYR1-Related Disorders 2017-07-05 -9.0 0.5 Benign/Likely benign 0 -384867 Simple 544551424 C . Benign/Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 17 2016-04-10 -9.0 1.0 Benign/Likely benign 0 -384878 Simple 148450358 A . Likely benign 2 2 not specified 2016-12-16 -6.0 1.0 Likely benign 0 -384879 Simple 144899015 A . Likely benign 2 2 not specified 2016-12-16 -6.0 1.0 Likely benign 0 -384884 Simple 201344762 A . Likely benign 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2016-07-25 -6.0 1.0 Likely benign 0 -384886 Simple 148562086 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-04-10 -6.0 0.5 Likely benign 0 -384894 Simple 376726966 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-01-26 -6.0 1.0 Likely benign 0 -384931 Simple 75075497 T . Benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-07-03 -18.0 0.3333333333333333 Benign/Likely benign 1 -384933 Simple 1057522079 A . Likely benign 2 2 Wilms tumor 1;not specified 2016-08-29 -6.0 1.0 Likely benign 0 -384940 Simple 3764341 G . Benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2016-11-28 -12.0 1.0 Benign/Likely benign 1 -384941 Simple 201141391 C . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-10-29 -9.0 1.0 Benign/Likely benign 0 -384953 Simple 144316335 T . Benign/Likely benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-05-25 -9.0 0.5 Benign/Likely benign 0 -384954 Simple 139534358 T . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-07-19 -9.0 0.0 Benign/Likely benign 0 -384963 Simple 370368644 A . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-27 -11.7 0.75 Benign/Likely benign 1 -384964 Simple 764030317 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-16 -8.7 1.3333333333333333 Benign/Likely benign 1 -384977 Simple 373383193 A . Benign 2 2 not specified;3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2017-07-03 -12.0 0.5 Benign/Likely benign 1 -384995 Simple 143885684 T . Likely benign 2 2 Glycogen storage disease type III;not specified 2017-06-13 -6.0 0.5 Likely benign 0 -385013 Simple 73155397 G . Benign/Likely benign 2 2 not specified;Congenital disorder of deglycosylation 2017-07-11 -9.0 0.0 Benign/Likely benign 0 -385031 Simple 762585552 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-21 -9.0 1.0 Benign/Likely benign 1 -385048 Simple 15999 A . Benign 2 3 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-04-03 -18.0 0.6666666666666666 Benign/Likely benign 1 -385057 Simple 148404628 A . Benign 2 2 Ataxia, spastic, 2, autosomal recessive;not specified 2017-04-25 -12.0 0.5 Benign/Likely benign 1 -385061 Simple 201538340 A . Likely benign 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-05-10 -6.0 0.5 Likely benign 0 -385064 Simple 78356534 A . Benign/Likely benign 2 2 Ataxia, spastic, 2, autosomal recessive;not specified 2017-05-01 -9.0 0.5 Benign/Likely benign 0 -385085 Simple 372224804 C . Likely benign 2 2 Mowat-Wilson syndrome;not specified 2017-08-14 -6.0 0.5 Likely benign 0 -385089 Simple 34771861 C . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease type 2F;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -385093 Simple 149647795 A . Likely benign 2 2 Dilated cardiomyopathy 1Z;Familial hypertrophic cardiomyopathy 13;not specified 2016-06-10 -6.0 1.0 Likely benign 0 -385102 Simple 1057522118 T . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-05-17 -6.0 0.5 Likely benign 0 -385113 Simple 1057522124 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-04 -6.0 1.0 Likely benign 0 -385114 Simple 1057522125 G . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-03-13 -6.0 0.5 Likely benign 0 -385115 Simple 995585765 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-17 -8.7 1.0 Benign/Likely benign 1 -385138 Simple 145318071 T . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 31 2017-10-27 -6.0 0.0 Likely benign 0 -385140 Simple 367912069 T . Benign/Likely benign 2 2 Severe X-linked myotubular myopathy;not specified 2017-05-26 -9.0 0.5 Benign/Likely benign 0 -385141 Simple 202218097 A . Benign/Likely benign 2 2 not specified 2017-07-28 -9.0 0.5 Benign/Likely benign 0 -385152 Simple 144543453 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-03 -6.0 0.5 Likely benign 0 -385167 Simple 1057522140 A . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2016-10-12 -6.0 1.0 Likely benign 0 -385176 Simple 375371977 A . Likely benign 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2017-08-10 -6.0 0.5 Likely benign 0 -385178 Simple 553001467 G . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-14 -11.7 1.0 Benign/Likely benign 1 -385186 Simple 144081297 T . Uncertain significance 2 2 not specified;not provided 2017-08-07 -0.6 0.0 Uncertain significance 0 -385188 Simple 55802448 A . Benign/Likely benign 2 2 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;not specified 2017-03-02 -9.0 1.0 Benign/Likely benign 0 -385222 Simple 372411922 T . Likely benign 2 2 not specified;RYR1-Related Disorders 2017-06-27 -6.0 0.5 Likely benign 0 -385224 Simple 144292068 G . Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-02-07 -6.0 1.0 Likely benign 0 -385226 Simple 139314486 A . Benign/Likely benign 2 2 not specified;Spastic paraplegia 49, autosomal recessive 2017-01-10 -9.0 1.0 Benign/Likely benign 0 -385233 Simple 199893979 G . Likely benign 2 2 Progressive myoclonus epilepsy with ataxia;not specified 2017-06-30 -6.0 0.5 Likely benign 0 -385234 Simple 146979083 T . Benign/Likely benign 2 3 Mental retardation, X-linked 1;not specified 2017-06-30 -12.0 0.3333333333333333 Benign/Likely benign 0 -385236 Simple 374511141 T . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-08-11 -9.0 0.0 Benign/Likely benign 0 -385253 Simple 375064227 A . Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-25 -6.0 0.5 Likely benign 0 -385265 Simple 1057522167 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-30 -6.0 1.0 Likely benign 0 -385267 Simple 983980599 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-01 -5.7 1.5 Likely benign 0 -385271 Simple 766891631 A . Likely benign 2 2 not specified 2017-08-23 -6.0 0.5 Likely benign 0 -385274 Simple 181024112 A . Benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-21 -12.0 0.5 Benign/Likely benign 1 -385282 Simple 782114947 T . Likely benign 2 2 not specified 2016-05-05 -6.0 1.0 Likely benign 0 -385293 Simple 753216372 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-07 -8.7 1.0 Benign/Likely benign 1 -385296 Simple 1057522179 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-07 -4.8 3.0 Likely benign 0 -385299 Simple 201729742 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-04 -5.7 1.5 Likely benign 0 -385309 Simple 778927849 A . Benign/Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -11.7 1.0 Benign/Likely benign 0 -385319 Simple 1057522187 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-03 -8.7 1.0 Benign/Likely benign 1 -385335 Simple 1057522195 A . Uncertain significance 2 3 not specified;not provided 2017-04-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -385336 Simple 1057522196 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -9.0 0.3333333333333333 Benign/Likely benign 1 -385337 Simple 753570046 C . Likely benign 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -12.0 0.5 Benign/Likely benign 1 -385343 Simple 148961019 T . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2016-09-23 -6.0 1.0 Likely benign 0 -385349 Simple 752370920 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-18 -9.0 0.6666666666666666 Benign/Likely benign 1 -385353 Simple 1057522201 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-07 -5.7 1.5 Likely benign 0 -385356 Simple 200250181 T . Likely benign 2 3 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided 2017-08-16 -9.0 0.0 Benign/Likely benign 1 -385375 Simple 201736771 T . Likely benign 2 2 not specified 2017-06-29 -6.0 0.5 Likely benign 0 -385415 Simple 759680369 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-06 -5.4 2.0 Likely benign 0 -385423 Simple 556962209 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-21 -8.7 1.0 Benign/Likely benign 1 -385430 Simple 149994413 A . Likely benign 2 2 not specified;Spastic paraplegia 54, autosomal recessive 2017-07-20 -6.0 0.5 Likely benign 0 -385436 Simple 192386572 A . Benign 2 2 not specified 2016-06-30 -11.4 1.5 Benign/Likely benign 1 -385456 Simple 748433747 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-09-19 -6.0 0.0 Likely benign 0 -385477 Simple 111818485 C . Benign/Likely benign 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-07-16 -9.0 0.0 Benign/Likely benign 0 -385479 Simple 113277954 A . Benign/Likely benign 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-07-16 -9.0 0.0 Benign/Likely benign 0 -385483 Simple 146425610 A . Benign 2 2 not specified;Intellectual disability 2017-06-14 -12.0 0.5 Benign/Likely benign 1 -385491 Simple 138796857 A . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-03-17 -12.0 0.5 Benign/Likely benign 1 -385502 Simple 138084718 G . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-03-28 -12.0 0.5 Benign/Likely benign 1 -385508 Simple 149053552 G . Likely benign 2 2 Mental retardation, autosomal dominant 8;not specified 2017-11-10 -6.0 0.0 Likely benign 0 -385509 Simple 138537951 A . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-08-10 -6.0 0.5 Likely benign 0 -385515 Simple 201458268 T . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-05-22 -9.0 0.0 Benign/Likely benign 0 -385516 Simple 146865914 A . Benign/Likely benign 2 2 Deafness, autosomal dominant 20;not specified;Baraitser-Winter Syndrome 2 2017-08-16 -9.0 0.0 Benign/Likely benign 0 -385518 Simple 369067442 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -9.0 0.3333333333333333 Benign/Likely benign 1 -385529 Simple 369150359 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-12 -8.7 1.0 Benign/Likely benign 1 -385538 Simple 200330326 A . Likely benign 2 2 Long QT syndrome;not specified 2016-10-26 -6.0 1.0 Likely benign 0 -385556 Simple 368480650 T . Uncertain significance 2 2 not specified 2016-11-28 -0.6 1.0 Uncertain significance 0 -385569 Simple 77129887 C . Benign 2 2 not specified;Spastic paraplegia 2016-08-26 -12.0 1.0 Benign/Likely benign 1 -385570 Simple 7156492 A . Benign 2 2 not specified;Spastic paraplegia 2016-08-26 -12.0 1.0 Benign/Likely benign 1 -385573 Simple 72556369 C . Likely benign 2 2 Long QT syndrome;not specified 2016-12-11 -6.0 1.0 Likely benign 0 -385591 Simple 776823114 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-14 -5.7 1.5 Likely benign 0 -385595 Simple 377133822 G . Likely benign 2 3 Colorectal cancer 10;not specified 2017-05-11 -9.0 0.3333333333333333 Benign/Likely benign 1 -385599 Simple 80358505 T . Likely benign 2 2 not specified 2016-09-22 -6.0 1.0 Likely benign 0 -385600 Simple 587781739 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -6.0 0.5 Likely benign 0 -385602 Simple 759600947 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -9.0 0.6666666666666666 Benign/Likely benign 1 -385612 Simple 1057522274 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -9.0 0.3333333333333333 Benign/Likely benign 1 -385638 Simple 148528063 T . Likely benign 2 2 not specified;Charcot-Marie-Tooth disease type 2P 2016-09-20 -6.0 1.0 Likely benign 0 -385641 Simple 765655952 G . Likely benign 3 6 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -17.1 1.1666666666666667 Benign/Likely benign 1 -385643 Simple 1057522285 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -6.0 0.5 Likely benign 0 -385647 Simple 770210088 G . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-10-14 -0.6 0.0 Uncertain significance 0 -385648 Simple 1057522287 C . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-10-14 -0.6 0.0 Uncertain significance 0 -385659 Simple 767296986 T . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -9.0 0.3333333333333333 Benign/Likely benign 1 -385680 Simple 139027723 C . Likely benign 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-03-16 -6.0 0.5 Likely benign 0 -385681 Simple 546058194 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-30 -9.0 0.5 Benign/Likely benign 0 -385689 Simple 554846350 G . Benign/Likely benign 2 2 Familial hemiplegic migraine;not specified 2016-08-22 -9.0 1.0 Benign/Likely benign 0 -385691 Simple 150208750 T . Benign/Likely benign 2 2 Lethal multiple pterygium syndrome;not specified 2017-07-13 -9.0 0.5 Benign/Likely benign 0 -385692 Simple 762789747 C . Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2016-07-24 -6.0 1.0 Likely benign 0 -385695 Simple 201971223 G . Likely benign 2 2 Nemaline myopathy 2;not specified 2017-05-18 -6.0 0.5 Likely benign 0 -385698 Simple 146292053 A . Benign 2 2 not specified;Brown-Vialetto-Van Laere syndrome 2 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -385702 Simple 375314883 T . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-06-09 -6.0 0.5 Likely benign 0 -385704 Simple 370425217 G . Likely benign 2 2 not specified 2017-04-24 -6.0 0.5 Likely benign 0 -385709 Simple 116385960 T . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-17 -15.0 0.6666666666666666 Benign/Likely benign 0 -385711 Simple 771244164 A . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-21 -9.0 0.5 Benign/Likely benign 0 -385717 Simple 201333104 A . Likely benign 2 5 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-01 -15.0 0.2 Benign/Likely benign 1 -385725 Simple 138932714 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-26 -6.0 0.5 Likely benign 0 -385732 Simple 779543740 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-27 -6.0 0.5 Likely benign 0 -385746 Simple 142658052 C . Likely benign 2 2 not specified;Hyperphosphatasia with mental retardation syndrome 2 2017-06-24 -6.0 0.5 Likely benign 0 -385751 Simple 533528985 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2016-09-29 -6.0 1.0 Likely benign 0 -385765 Simple 766437927 T . Likely benign 2 2 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;not specified 2017-06-06 -6.0 0.5 Likely benign 0 -385768 Simple 150229208 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -6.0 0.5 Likely benign 0 -385771 Simple 755601819 G . Likely benign 2 2 Familial cancer of breast;not specified 2017-04-05 -6.0 0.5 Likely benign 0 -385774 Simple 141196976 G . Likely benign 3 5 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -14.4 1.2 Benign/Likely benign 1 -385776 Simple 1057522327 G . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-15 -12.0 1.0 Benign/Likely benign 1 -385777 Simple 374533728 A . Likely benign 2 2 Colorectal cancer 10;not specified 2017-08-22 -6.0 0.0 Likely benign 0 -385780 Simple 761413102 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-10 -8.7 0.6666666666666666 Benign/Likely benign 1 -385790 Simple 535603112 G . Likely benign 2 3 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-17 -9.0 1.0 Benign/Likely benign 1 -385818 Simple 8178070 C . Benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -385856 Simple 190301454 G . Likely benign 2 2 not specified;not provided 2017-06-12 -6.0 0.5 Likely benign 0 -385867 Simple 367860958 G . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-05-08 -6.0 0.5 Likely benign 0 -385891 Simple 138352399 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-06-26 -6.0 0.5 Likely benign 0 -385892 Simple 1033300766 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2016-12-05 -0.6 1.0 Uncertain significance 0 -385907 Simple 115929614 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-03-03 -12.0 1.0 Benign/Likely benign 1 -385924 Simple 144279235 T . Likely benign 2 2 not specified;not provided 2017-06-02 -6.0 0.0 Likely benign 0 -385932 Simple 1057522369 C . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -9.0 0.6666666666666666 Benign/Likely benign 1 -385933 Simple 777153373 G . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -9.0 1.0 Benign/Likely benign 1 -385937 Simple 976206782 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-01-26 -6.0 1.0 Likely benign 0 -385943 Simple 1057522378 A . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-20 -9.0 0.6666666666666666 Benign/Likely benign 1 -385952 Simple 373129248 T . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-19 -6.0 0.0 Likely benign 0 -385953 Simple 367898059 G . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-27 -9.0 1.0 Benign/Likely benign 1 -385955 Simple 11570046 A . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-22 -6.0 0.5 Likely benign 0 -385961 Simple 751756901 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-19 -8.7 1.0 Benign/Likely benign 1 -385965 Simple 781343915 C . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -385969 Simple 17540735 G . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-07-16 -6.0 0.0 Likely benign 0 -385970 Simple 377389860 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-08 -9.0 0.0 Benign/Likely benign 0 -385974 Simple 144817648 A . Uncertain significance 2 2 Glycogen storage disease type III;not specified 2017-07-28 -0.6 0.0 Uncertain significance 0 -385976 Simple 138300993 T . Benign/Likely benign 2 2 not specified;Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant 2017-07-02 -9.0 0.0 Benign/Likely benign 0 -385979 Simple 765269835 T . Likely benign 2 2 Brugada syndrome 5;not specified 2017-07-14 -6.0 0.5 Likely benign 0 -385980 Simple 140547832 T . Likely benign 2 2 Brody myopathy;not specified 2016-09-04 -6.0 1.0 Likely benign 0 -385981 Simple 777580254 T . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2016-09-04 -6.0 1.0 Likely benign 0 -385982 Simple 77113162 T . Benign 2 2 Laminin alpha 2-related dystrophy;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -385990 Simple 201277756 A . Likely benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-10 -8.7 1.0 Benign/Likely benign 1 -385991 Simple 1041781133 A . Likely benign 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-06-14 -6.0 0.5 Likely benign 0 -385994 Simple 145518904 A . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-08-18 -6.0 0.0 Likely benign 0 -386003 Simple 200524912 A . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -386008 Simple 967146480 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-07-27 -6.0 0.0 Likely benign 0 -386009 Simple 772578799 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -6.0 1.0 Likely benign 0 -386010 Simple 1057522393 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-06 -5.7 1.5 Likely benign 0 -386013 Simple 561993366 C . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-26 -6.0 0.5 Likely benign 0 -386048 Simple 543584871 C . Likely benign 2 2 Shprintzen-Goldberg syndrome;not specified 2017-06-29 -6.0 0.5 Likely benign 0 -386058 Simple 376641299 G . Likely benign 2 2 Osler hemorrhagic telangiectasia syndrome;not specified 2016-06-06 -6.0 1.0 Likely benign 0 -386087 Simple 372900932 T . Likely benign 2 2 not specified 2017-02-23 -6.0 1.0 Likely benign 0 -386089 Simple 201202764 G . Likely benign 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-10-11 -8.7 1.3333333333333333 Benign/Likely benign 1 -386093 Simple 760701558 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -11.7 1.0 Benign/Likely benign 1 -386100 Simple 1057522415 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -8.7 1.0 Benign/Likely benign 1 -386101 Simple 1057522416 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -6.0 0.5 Likely benign 0 -386121 Simple 200850130 A . Likely benign 2 3 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-10-11 -9.0 0.0 Benign/Likely benign 1 -386137 Simple 897288945 G . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-20 -11.7 0.75 Benign/Likely benign 1 -386138 Simple 372340900 A . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2016-08-24 -6.0 1.0 Likely benign 0 -386152 Simple 371629629 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-05-02 -6.0 0.5 Likely benign 0 -386160 Simple 560366406 T . Likely benign 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-07-05 -6.0 0.5 Likely benign 0 -386164 Simple 1057522438 G . Likely benign 2 2 not specified;Intellectual disability 2017-01-22 -6.0 1.0 Likely benign 0 -386172 Simple 145783693 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -5.7 1.0 Likely benign 0 -386180 Simple 370003497 T . Likely benign 2 2 not specified 2017-07-12 -5.7 1.0 Likely benign 0 -386194 Simple 368018568 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-08-03 -6.0 1.0 Likely benign 0 -386208 Simple 750504746 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2016-09-15 -6.0 1.0 Likely benign 0 -386216 Simple 749873325 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-28 -8.7 1.0 Benign/Likely benign 1 -386231 Simple 150135768 T . Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-08-02 -6.0 0.5 Likely benign 0 -386232 Simple 769459561 A . Likely benign 2 4 Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -12.0 0.75 Benign/Likely benign 1 -386242 Simple 375534850 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-02-25 -6.0 1.0 Likely benign 0 -386246 Simple 114551393 G . Benign/Likely benign 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-05-31 -9.0 0.0 Benign/Likely benign 0 -386265 Simple 34451610 T . Benign/Likely benign 2 2 not specified;Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -386268 Simple 767769851 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-17 -6.0 0.0 Likely benign 0 -386271 Simple 114972594 A . Benign/Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-09 -14.7 0.5 Benign/Likely benign 0 -386289 Simple 142190071 T . Benign/Likely benign 2 2 not specified;Spastic paraplegia 54, autosomal recessive 2017-08-31 -9.0 0.5 Benign/Likely benign 0 -386317 Simple 61736929 G . Benign 2 2 Primary dilated cardiomyopathy;not specified 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -386319 Simple 141997826 T . Benign/Likely benign 2 2 Progressive familial heart block type 1B;not specified 2017-10-24 -9.0 0.0 Benign/Likely benign 0 -386322 Simple 771340721 C . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-08-02 -6.0 0.5 Likely benign 0 -386326 Simple 1057522475 T . Likely benign 2 2 MYH-associated polyposis;not specified 2017-04-14 -6.0 0.5 Likely benign 0 -386368 Simple 7315591 G . Benign 2 2 not specified 2017-01-18 -12.0 1.0 Benign/Likely benign 1 -386373 Simple 17215458 A . Benign 2 2 Spinocerebellar ataxia 19;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -386374 Simple 72548732 A . Benign 2 2 Spinocerebellar ataxia 19;not specified 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -386377 Simple 376379111 A . Likely benign 2 2 not specified;not provided 2017-06-02 -6.0 0.0 Likely benign 0 -386390 Simple 34030828 T . Benign/Likely benign 2 2 Spastic paraplegia 39;not specified 2017-04-07 -9.0 0.5 Benign/Likely benign 0 -386400 Simple 35273905 T . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-09-11 -9.0 0.0 Benign/Likely benign 0 -386408 Simple 747733248 G . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -9.0 0.6666666666666666 Benign/Likely benign 1 -386409 Simple 1057522493 G . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -12.0 0.5 Benign/Likely benign 1 -386415 Simple 774761552 A . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -9.0 0.3333333333333333 Benign/Likely benign 1 -386417 Simple 13180781 G . Benign 2 2 Familial adenomatous polyposis 1;not specified 2017-08-21 -12.0 0.5 Benign/Likely benign 1 -386420 Simple 1057522496 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-20 -6.0 1.0 Likely benign 0 -386424 Simple 770297218 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -6.0 1.0 Likely benign 0 -386440 Simple 147568068 G . Likely benign 2 2 not specified;Pontocerebellar hypoplasia, type 1b 2017-02-23 -6.0 1.0 Likely benign 0 -386444 Simple 370580872 A . Benign 2 2 not specified 2017-03-29 -12.0 0.5 Benign/Likely benign 1 -386446 Simple 201752698 T . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-02-17 -9.0 1.0 Benign/Likely benign 0 -386456 Simple 143241534 A . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-05-16 -6.0 0.5 Likely benign 0 -386463 Simple 373520472 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-08-31 -6.0 0.0 Likely benign 0 -386487 Simple 1057522511 T . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -9.0 0.6666666666666666 Benign/Likely benign 1 -386489 Simple 201402744 G . Likely benign 2 2 Hereditary diffuse gastric cancer;not specified 2017-07-24 -6.0 0.0 Likely benign 0 -386491 Simple 912886321 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-28 -6.0 0.5 Likely benign 0 -386496 Simple 151025677 T . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-30 -9.0 1.0 Benign/Likely benign 0 -386502 Simple 370318597 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -386504 Simple 371063358 G . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-11-03 -6.0 1.0 Likely benign 0 -386521 Simple 563345694 A . Uncertain significance 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-03-17 -0.6 0.5 Uncertain significance 0 -386526 Simple 190301927 A . Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2017-11-07 -6.0 0.0 Likely benign 0 -386529 Simple 113460230 C . Benign 2 2 not specified;Noonan syndrome 9 2017-07-27 -12.0 0.5 Benign/Likely benign 1 -386530 Simple 146789160 G . Likely benign 2 2 not specified;not provided 2017-06-12 -6.0 0.0 Likely benign 0 -386534 Simple 773240495 A . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.5 Benign/Likely benign 1 -386541 Simple 774804160 T . Likely benign 2 2 not specified 2017-06-26 -6.0 0.5 Likely benign 0 -386544 Simple 1057522527 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-08 -6.0 1.0 Likely benign 0 -386564 Simple 145351030 G . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-04-13 -6.0 0.5 Likely benign 0 -386581 Simple 115076664 A . Benign/Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2017-07-11 -9.0 0.0 Benign/Likely benign 0 -386590 Simple 1057522543 G . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-28 -12.0 0.75 Benign/Likely benign 1 -386592 Simple 759392159 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-09 -6.0 1.0 Likely benign 0 -386597 Simple 375998368 A . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-25 -6.0 0.5 Likely benign 0 -386619 Simple 150383703 A . Likely benign 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-03-10 -6.0 0.5 Likely benign 0 -386622 Simple 959097768 C . Likely benign 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -12.0 0.75 Benign/Likely benign 1 -386626 Simple 1057522553 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-27 -5.7 1.5 Likely benign 0 -386636 Simple 375169111 A . Likely benign 2 2 Brugada syndrome 8;not specified 2017-06-14 -6.0 0.5 Likely benign 0 -386646 Simple 1057522561 C . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-04-20 -8.7 0.6666666666666666 Benign/Likely benign 1 -386649 Simple 746347650 T . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -8.7 1.0 Benign/Likely benign 1 -386659 Simple 150620449 T . Benign/Likely benign 2 2 Neuropathy, hereditary motor and sensory, Okinawa type;not specified;Spastic paraplegia 57, autosomal recessive 2017-08-16 -9.0 0.0 Benign/Likely benign 0 -386660 Simple 185200977 A . Benign/Likely benign 2 3 Charcot-Marie-Tooth disease type 2E;not specified 2017-06-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -386669 Simple 374927292 T . Likely benign 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -9.0 0.6666666666666666 Benign/Likely benign 1 -386678 Simple 75464253 T . Likely benign 2 2 not specified 2017-02-02 -6.0 1.0 Likely benign 0 -386684 Simple 142613263 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-02-06 -6.0 1.0 Likely benign 0 -386728 Simple 758715544 C . Likely benign 2 2 Multiple endocrine neoplasia, type 2;not specified 2017-07-04 -6.0 0.5 Likely benign 0 -386738 Simple 2274308 T . Benign/Likely benign 2 2 Mental retardation, X-linked 1;not specified 2017-06-21 -9.0 0.5 Benign/Likely benign 0 -386740 Simple 782433720 T . Likely benign 2 2 Creatine deficiency, X-linked;not specified 2017-06-20 -6.0 0.5 Likely benign 0 -386743 Simple 1057522591 C . Likely benign 2 2 Nemaline myopathy 2;not specified 2017-05-17 -6.0 0.5 Likely benign 0 -386751 Simple 138246784 T . Likely benign 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;not specified 2017-02-24 -6.0 1.0 Likely benign 0 -386759 Simple 201397488 C . Likely benign 2 2 not specified 2016-07-21 -6.0 1.0 Likely benign 0 -386765 Simple 1057522595 G . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -8.7 1.3333333333333333 Benign/Likely benign 1 -386766 Simple 762190393 T . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -9.0 0.0 Benign/Likely benign 1 -386771 Simple 752967787 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-03-03 -6.0 1.0 Likely benign 0 -386781 Simple 35500164 A . Benign 2 2 Osteogenesis imperfecta type 8;not specified 2016-10-18 -12.0 1.0 Benign/Likely benign 1 -386786 Simple 573638836 C . Likely benign 2 2 Lynch syndrome;not specified 2016-09-27 -6.0 1.0 Likely benign 0 -386790 Simple 536884553 A . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-11 -12.0 0.75 Benign/Likely benign 1 -386792 Simple 754716741 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-10-06 -9.0 0.0 Benign/Likely benign 1 -386793 Simple 137998759 G . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.5 Benign/Likely benign 1 -386805 Simple 138754049 T . Likely benign 2 2 Cerebral creatine deficiency syndrome;not specified 2016-06-02 -6.0 1.0 Likely benign 0 -386809 Simple 3218752 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-02-03 -6.0 1.0 Likely benign 0 -386811 Simple 1057522607 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-12 -9.0 0.6666666666666666 Benign/Likely benign 1 -386837 Simple 141031021 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-05-11 -6.0 0.5 Likely benign 0 -386841 Simple 1057522617 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-24 -0.6 0.5 Uncertain significance 0 -386845 Simple 779005137 G . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-13 -9.0 0.6666666666666666 Benign/Likely benign 1 -386848 Simple 927395918 C . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-03-31 -6.0 0.5 Likely benign 0 -386852 Simple 141417436 G . Uncertain significance 2 2 Spastic paraplegia 47, autosomal recessive;not specified 2017-09-08 -0.6 0.5 Uncertain significance 0 -386859 Simple 201044782 T . Likely benign 2 2 Focal segmental glomerulosclerosis 5;not specified;Charcot-Marie-Tooth disease, dominant intermediate E 2017-07-10 -6.0 0.5 Likely benign 0 -386869 Simple 145746791 G . Likely benign 2 3 not specified;not provided 2017-05-15 -8.7 1.0 Benign/Likely benign 1 -386886 Simple 2291558 T . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-05-09 -6.0 0.5 Likely benign 0 -386889 Simple 143129484 T . Likely benign 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2017-07-28 -6.0 0.0 Likely benign 0 -386890 Simple 2274861 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-03-28 -12.0 0.5 Benign/Likely benign 1 -386897 Simple 147175064 A . Benign/Likely benign 2 3 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-06-06 -12.0 0.6666666666666666 Benign/Likely benign 0 -386898 Simple 368231947 T . Likely benign 2 2 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified 2017-05-16 -6.0 0.5 Likely benign 0 -386902 Simple 45555831 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -6.3 0.5 Likely benign 0 -386909 Simple 754405775 G . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-04-14 -6.0 0.5 Likely benign 0 -386942 Simple 760214407 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -8.7 1.0 Benign/Likely benign 1 -386947 Simple 768531930 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -386978 Simple 3747833 A . Likely benign 2 2 Bardet-Biedl syndrome;not specified 2017-07-10 -6.0 0.5 Likely benign 0 -386984 Simple 545512590 C . Benign/Likely benign 2 2 not specified;Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant 2017-06-22 -9.0 0.0 Benign/Likely benign 0 -386986 Simple 776293094 T . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-04-28 -6.0 0.5 Likely benign 0 -386991 Simple 761641734 C . Likely benign 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2016-07-06 -6.0 1.0 Likely benign 0 -387005 Simple 147572139 C . Benign/Likely benign 2 2 not specified 2017-03-21 -9.0 0.5 Benign/Likely benign 0 -387006 Simple 77203884 T . Benign/Likely benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-01-26 -9.0 1.0 Benign/Likely benign 0 -387007 Simple 376590911 A . Likely benign 2 2 Autosomal recessive centronuclear myopathy;not specified 2016-08-24 -6.0 1.0 Likely benign 0 -387017 Simple 566679569 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-05-23 -9.0 0.5 Benign/Likely benign 0 -387033 Simple 141091206 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-03-07 -6.0 0.5 Likely benign 0 -387054 Simple 144218410 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-04 -8.7 0.6666666666666666 Benign/Likely benign 1 -387055 Simple 376527838 A . Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-07-13 -6.0 0.5 Likely benign 0 -387088 Simple 754581272 A . Uncertain significance 2 2 Idiopathic generalized epilepsy;not specified;Hyperaldosteronism, familial, type IV 2017-07-19 -0.6 0.0 Uncertain significance 0 -387090 Simple 757840865 T . Uncertain significance 2 2 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified 2017-06-19 -0.6 0.5 Uncertain significance 0 -387093 Simple 142345851 C . Benign/Likely benign 2 2 Laminin alpha 2-related dystrophy;not specified 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -387095 Simple 140508714 T . Benign/Likely benign 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-07-27 -12.0 0.0 Benign/Likely benign 0 -387098 Simple 1057522689 A . Likely benign 2 2 Epilepsy, familial focal, with variable foci 1;not specified 2016-06-24 -6.0 1.0 Likely benign 0 -387099 Simple 145095254 A . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-04-14 -6.0 0.5 Likely benign 0 -387118 Simple 369755963 C . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-10 -6.0 0.5 Likely benign 0 -387119 Simple 201601993 A . Likely benign 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-20 -12.0 1.0 Benign/Likely benign 1 -387152 Simple 748496836 T . Likely benign 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2016-08-06 -9.0 1.0 Benign/Likely benign 1 -387164 Simple 3810670 C . Benign/Likely benign 2 2 FG syndrome;not specified 2017-07-24 -9.0 0.0 Benign/Likely benign 0 -387178 Simple 774283364 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -6.0 1.0 Likely benign 0 -387181 Simple 1057522718 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-08-28 -6.0 1.0 Likely benign 0 -387183 Simple 1057522719 T . Likely benign 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-11-29 -8.7 1.3333333333333333 Benign/Likely benign 1 -387184 Simple 1057522720 A . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2016-09-06 -6.0 1.0 Likely benign 0 -387185 Simple 1057522721 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-24 -9.0 1.0 Benign/Likely benign 1 -387186 Simple 375886642 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -9.0 0.6666666666666666 Benign/Likely benign 1 -387193 Simple 200523834 C . Likely benign 2 2 Epilepsy, childhood absence 1;Epilepsy, childhood absence 5;not specified 2017-04-30 -6.0 0.5 Likely benign 0 -387217 Simple 199652368 A . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-11-06 -6.0 0.0 Likely benign 0 -387273 Simple 1057522750 T . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-01 -6.0 0.5 Likely benign 0 -387274 Simple 1057522751 A . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -11.7 0.75 Benign/Likely benign 1 -387279 Simple 1057522753 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2016-06-24 -8.7 1.3333333333333333 Benign/Likely benign 1 -387280 Simple 372000734 A . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -9.0 0.6666666666666666 Benign/Likely benign 1 -387292 Simple 115350357 C . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-09-06 -9.0 0.0 Benign/Likely benign 0 -387293 Simple 200018782 C . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-09-06 -9.0 0.0 Benign/Likely benign 0 -387324 Simple 201164522 A . Benign/Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2016-12-14 -12.0 1.0 Benign/Likely benign 0 -387325 Simple 7011480 A . Likely benign 2 3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-27 -9.0 0.3333333333333333 Benign/Likely benign 1 -387328 Simple 201074268 A . Likely benign 2 2 Alstrom syndrome;not specified 2017-04-25 -6.0 0.5 Likely benign 0 -387330 Simple 57179949 T . Benign 2 2 not specified;Noonan syndrome 9 2017-07-27 -12.0 0.5 Benign/Likely benign 1 -387333 Simple 150192376 C . Benign/Likely benign 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -11.4 1.0 Benign/Likely benign 0 -387334 Simple 201760306 C . Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2017-05-21 -6.0 0.5 Likely benign 0 -387347 Simple 28730852 C . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-11-02 -9.0 0.0 Benign/Likely benign 0 -387348 Simple 77517267 T . Benign 2 2 Alstrom syndrome;not specified 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -387349 Simple 10199680 T . Benign 2 2 Alstrom syndrome;not specified 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -387350 Simple 139647347 A . Benign/Likely benign 2 2 not specified;not provided 2017-03-20 -9.0 0.5 Benign/Likely benign 0 -387372 Simple 1057522773 A . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-07-04 -6.0 0.5 Likely benign 0 -387373 Simple 561258266 T . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-03-03 -11.7 1.25 Benign/Likely benign 1 -387397 Simple 144819985 A . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-02-15 -6.0 1.0 Likely benign 0 -387408 Simple 202027738 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-05-24 -9.0 0.0 Benign/Likely benign 0 -387411 Simple 74573581 A . Benign/Likely benign 2 2 Brody myopathy;not specified 2017-04-17 -9.0 0.5 Benign/Likely benign 0 -387412 Simple 73784326 A . Benign/Likely benign 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-08-09 -9.0 0.0 Benign/Likely benign 0 -387415 Simple 373669500 C . Likely benign 2 2 Joubert syndrome;not specified 2016-07-05 -6.0 1.0 Likely benign 0 -387418 Simple 201786788 T . Benign/Likely benign 2 2 Brody myopathy;not specified 2017-04-25 -9.0 0.0 Benign/Likely benign 0 -387419 Simple 76787560 A . Benign/Likely benign 2 2 not specified;Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -387423 Simple 114205227 C . Benign/Likely benign 2 2 not specified 2017-09-14 -9.0 0.0 Benign/Likely benign 0 -387431 Simple 760131228 A . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-05-12 -6.0 0.5 Likely benign 0 -387437 Simple 199527475 G . Likely benign 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-02 -8.7 1.3333333333333333 Benign/Likely benign 1 -387442 Simple 769501299 G . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-03-20 -6.0 0.5 Likely benign 0 -387453 Simple 375212345 A . Likely benign 2 2 not specified 2016-09-07 -6.0 1.0 Likely benign 0 -387474 Simple 778421025 A . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2016-10-16 -9.0 1.0 Benign/Likely benign 0 -387476 Simple 539283387 C . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -387480 Simple 199876002 C . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-06-05 -9.0 0.5 Benign/Likely benign 0 -387490 Simple 200687736 A . Benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -387494 Simple 564134251 A . Benign/Likely benign 2 2 not specified 2017-05-12 -9.0 0.5 Benign/Likely benign 0 -387509 Simple 376128790 A . Likely benign 2 2 Familial hemiplegic migraine;not specified 2017-07-26 -6.0 0.5 Likely benign 0 -387516 Simple 200102613 C . Likely benign 2 2 not specified;Brown-Vialetto-Van Laere syndrome 2 2017-08-02 -6.0 0.5 Likely benign 0 -387527 Simple 72648327 A . Uncertain significance 2 3 Osteogenesis imperfecta type I;not specified 2017-02-08 -0.8999999999999999 1.0 Uncertain significance 0 -387536 Simple 1057522817 C . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2017-02-16 -0.6 1.0 Uncertain significance 0 -387538 Simple 184770215 T . Likely benign 2 2 Early infantile epileptic encephalopathy 9;not specified 2017-06-08 -6.0 0.5 Likely benign 0 -387548 Simple 114623441 A . Benign/Likely benign 2 2 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -387551 Simple 16032 C . Benign/Likely benign 2 3 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-06-16 -15.0 0.3333333333333333 Benign/Likely benign 0 -387552 Simple 782744933 T . Likely benign 2 2 Mental retardation, X-linked 1;not specified 2017-05-31 -6.0 0.5 Likely benign 0 -387554 Simple 199715254 T . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-04-12 -6.0 0.5 Likely benign 0 -387564 Simple 79489893 A . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-26 -9.0 0.0 Benign/Likely benign 0 -387565 Simple 375543045 G . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-06-27 -9.0 0.5 Benign/Likely benign 0 -387585 Simple 202008601 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2016-12-19 -9.0 1.0 Benign/Likely benign 0 -387622 Simple 376333939 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-30 -8.7 1.0 Benign/Likely benign 1 -387623 Simple 786201443 T . Likely benign 2 2 Li-Fraumeni syndrome;not specified 2016-07-08 -6.0 1.0 Likely benign 0 -387627 Simple 1057522848 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -9.0 0.3333333333333333 Benign/Likely benign 1 -387630 Simple 768901366 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -6.0 0.5 Likely benign 0 -387648 Simple 745311187 A . Likely benign 2 2 not specified 2017-04-12 -6.0 0.5 Likely benign 0 -387661 Simple 142605642 T . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-05-16 -12.0 0.5 Benign/Likely benign 1 -387670 Simple 374231091 T . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-08-16 -9.0 0.0 Benign/Likely benign 0 -387671 Simple 185171192 G . Benign/Likely benign 2 2 not specified;Nemaline myopathy 8 2017-07-27 -9.0 0.0 Benign/Likely benign 0 -387681 Simple 1057522866 G . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-20 -8.7 1.3333333333333333 Benign/Likely benign 1 -387697 Simple 1057522875 T . Likely benign 2 2 Peutz-Jeghers syndrome;not specified 2017-06-29 -6.0 0.0 Likely benign 0 -387698 Simple 774935084 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -387699 Simple 1057522876 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-09 -6.0 0.5 Likely benign 0 -387700 Simple 1057522877 T . Likely benign 2 2 Colorectal cancer 10;not specified 2016-07-13 -6.0 1.0 Likely benign 0 -387701 Simple 754020535 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -9.0 0.3333333333333333 Benign/Likely benign 1 -387702 Simple 757682919 A . Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-01 -12.0 0.75 Benign/Likely benign 1 -387703 Simple 202026284 A . Uncertain significance 2 2 not specified 2017-01-17 -0.6 1.0 Uncertain significance 0 -387711 Simple 56849061 A . Benign/Likely benign 2 2 Aspartylglycosaminuria;not specified 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -387734 Simple 769102979 C . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-06-28 -6.0 0.0 Likely benign 0 -387753 Simple 1057522896 G . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-27 -6.0 0.5 Likely benign 0 -387757 Simple 746194098 T . Likely benign 2 2 Glycogen storage disease, type II;not specified 2017-03-21 -6.0 0.5 Likely benign 0 -387758 Simple 546463058 A . Likely benign 2 2 Glycogen storage disease, type II;not specified 2017-03-21 -6.0 0.5 Likely benign 0 -387773 Simple 367816013 T . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-01-16 -6.0 1.0 Likely benign 0 -387775 Simple 138166710 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -387783 Simple 754604466 T . Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-07-11 -6.0 0.5 Likely benign 0 -387793 Simple 57144955 G . Benign 2 2 Ataxia, spastic, 2, autosomal recessive;not specified 2017-06-26 -12.0 0.5 Benign/Likely benign 1 -387794 Simple 73345356 T . Benign 2 2 Ataxia, spastic, 2, autosomal recessive;not specified 2017-06-26 -12.0 0.5 Benign/Likely benign 1 -387811 Simple 146075981 A . Benign/Likely benign 2 2 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified 2017-05-15 -9.0 0.5 Benign/Likely benign 0 -387817 Simple 17512839 G . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-07-10 -9.0 0.0 Benign/Likely benign 0 -387836 Simple 750007543 A . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-05-15 -6.0 0.5 Likely benign 0 -387847 Simple 199786746 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-09-13 -6.0 1.0 Likely benign 0 -387852 Simple 369102529 A . Likely benign 2 2 Long QT syndrome;not specified 2017-03-21 -6.0 0.5 Likely benign 0 -387855 Simple 775659068 T . Likely benign 2 2 Brugada syndrome 5;not specified 2017-03-24 -6.0 0.5 Likely benign 0 -387869 Simple 146243145 A . Uncertain significance 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-10-09 -0.6 0.0 Uncertain significance 0 -387880 Simple 781363787 A . Benign/Likely benign 2 2 not specified 2017-06-30 -9.0 0.0 Benign/Likely benign 0 -387889 Simple 202203039 T . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-08-22 -9.0 0.0 Benign/Likely benign 0 -387890 Simple 147960792 G . Likely benign 2 2 Holt-Oram syndrome;not specified 2017-02-11 -6.0 1.0 Likely benign 0 -387899 Simple 777433056 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-03-20 -9.0 0.6666666666666666 Benign/Likely benign 1 -387900 Simple 139607077 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-10-13 -9.0 1.0 Benign/Likely benign 1 -387921 Simple 201673771 A . Uncertain significance 2 2 not specified 2017-02-27 -0.6 1.0 Uncertain significance 0 -387932 Simple 375799148 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-09 -9.0 0.3333333333333333 Benign/Likely benign 1 -387963 Simple 112837367 C . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-08-15 -9.0 0.0 Benign/Likely benign 0 -387968 Simple 772074468 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-09-28 -6.0 0.0 Likely benign 0 -388002 Simple 371990384 A . Benign/Likely benign 2 3 Mental retardation, CASK-related, X-linked;not specified 2017-07-18 -12.0 0.6666666666666666 Benign/Likely benign 0 -388005 Simple 774389234 A . Likely benign 2 2 not specified 2016-07-22 -6.0 1.0 Likely benign 0 -388011 Simple 1057522976 A . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-06-12 -6.0 0.5 Likely benign 0 -388018 Simple 200093958 T . Benign/Likely benign 2 2 not specified 2017-09-05 -9.0 0.0 Benign/Likely benign 0 -388019 Simple 200924771 A . Benign/Likely benign 2 2 Mental retardation, autosomal dominant 8;not specified 2017-07-20 -9.0 0.0 Benign/Likely benign 0 -388022 Simple 556045045 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-23 -9.0 0.5 Benign/Likely benign 0 -388044 Simple 370232570 C . Likely benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-07-30 -6.0 0.0 Likely benign 0 -388047 Simple 200051020 A . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -388060 Simple 61626938 T . Benign/Likely benign 2 2 Brody myopathy;not specified 2017-08-09 -9.0 0.0 Benign/Likely benign 0 -388062 Simple 144709880 T . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-11-09 -9.0 0.5 Benign/Likely benign 0 -388065 Simple 569987101 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-07-05 -6.0 0.5 Likely benign 0 -388067 Simple 782387031 C . Likely benign 2 2 not specified;Dilated cardiomyopathy 1JJ 2016-10-09 -6.0 1.0 Likely benign 0 -388076 Simple 1057522988 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -6.0 0.5 Likely benign 0 -388086 Simple 186951572 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-06-05 -6.0 0.5 Likely benign 0 -388088 Simple 1057522996 A . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-08-01 -12.0 0.5 Benign/Likely benign 1 -388104 Simple 148655811 T . Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-25 -6.0 0.5 Likely benign 0 -388107 Simple 150374820 G . Likely benign 2 3 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-03-03 -9.0 1.0 Benign/Likely benign 1 -388109 Simple 367803280 A . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-05-31 -9.0 0.5 Benign/Likely benign 0 -388112 Simple 1037449903 C . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-05-09 -6.0 0.5 Likely benign 0 -388122 Simple 786202805 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -6.0 0.5 Likely benign 0 -388130 Simple 1057523011 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -9.0 0.3333333333333333 Benign/Likely benign 1 -388131 Simple 137888190 C . Likely benign 2 2 Familial cancer of breast;not specified 2017-04-28 -6.0 0.5 Likely benign 0 -388132 Simple 904872305 A . Likely benign 2 2 Lynch syndrome;not specified 2016-08-22 -6.0 1.0 Likely benign 0 -388133 Simple 750936426 C . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2016-07-26 -6.0 1.0 Likely benign 0 -388134 Simple 777958191 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2016-12-11 -8.7 1.3333333333333333 Benign/Likely benign 1 -388164 Simple 786201640 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-24 -6.0 1.0 Likely benign 0 -388175 Simple 373045276 T . Benign/Likely benign 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-07-17 -9.0 0.5 Benign/Likely benign 0 -388183 Simple 146653916 T . Likely benign 2 2 not specified 2017-05-31 -6.0 0.5 Likely benign 0 -388184 Simple 142133195 A . Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-06-20 -6.0 0.5 Likely benign 0 -388224 Simple 552644975 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-03 -6.0 1.0 Likely benign 0 -388232 Simple 17122201 T . Benign 2 2 not specified;Noonan syndrome 9 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -388233 Simple 45465693 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-03-07 -6.0 0.5 Likely benign 0 -388234 Simple 372189819 T . Benign/Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-07-11 -9.0 0.0 Benign/Likely benign 0 -388244 Simple 371239344 C . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2016-10-17 -6.0 1.0 Likely benign 0 -388259 Simple 146395561 T . Uncertain significance 2 2 Congenital disorder of glycosylation type 1M;not specified 2017-07-27 -0.6 0.0 Uncertain significance 0 -388260 Simple 542863968 A . Benign/Likely benign 2 2 Congenital disorder of glycosylation type 1I;not specified;Myasthenic syndrome, congenital, 14 2017-04-27 -9.0 0.5 Benign/Likely benign 0 -388261 Simple 73374672 T . Benign/Likely benign 2 2 Argininosuccinate lyase deficiency;not specified 2016-08-09 -9.0 1.0 Benign/Likely benign 0 -388283 Simple 371947198 A . Likely benign 2 3 Multiple fibrofolliculomas;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -388286 Simple 1057523053 A . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-01-04 -6.0 1.0 Likely benign 0 -388293 Simple 139838537 T . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-07-16 -9.0 0.5 Benign/Likely benign 0 -388304 Simple 1057523064 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -9.0 0.6666666666666666 Benign/Likely benign 1 -388337 Simple 372361154 A . Likely benign 2 2 not specified;not provided 2017-08-24 -6.0 0.0 Likely benign 0 -388343 Simple 772993105 A . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-02-15 -6.0 1.0 Likely benign 0 -388347 Simple 200705912 A . Benign/Likely benign 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-05-01 -9.0 0.5 Benign/Likely benign 0 -388360 Simple 764818222 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -6.0 0.5 Likely benign 0 -388362 Simple 562220073 T . Likely benign 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-16 -8.7 1.0 Benign/Likely benign 1 -388376 Simple 372748919 G . Likely benign 2 2 Mental retardation, autosomal dominant 7;not specified 2017-07-27 -6.0 0.0 Likely benign 0 -388394 Simple 1057523087 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-18 -9.0 0.6666666666666666 Benign/Likely benign 1 -388404 Simple 1000861691 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-08-03 -9.0 1.0 Benign/Likely benign 1 -388418 Simple 140777892 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;not specified 2017-06-29 -6.3 0.5 Likely benign 0 -388419 Simple 1057523101 T . Likely benign 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-16 -8.7 1.3333333333333333 Benign/Likely benign 1 -388436 Simple 201710642 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-05-08 -0.6 0.5 Uncertain significance 0 -388437 Simple 372250372 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2016-08-16 -6.0 1.0 Likely benign 0 -388464 Simple 34770647 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.25 Benign/Likely benign 1 -388466 Simple 542864768 T . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-02-06 -6.0 1.0 Likely benign 0 -388467 Simple 1057523114 C . Likely benign 2 2 Juvenile polyposis syndrome;not specified 2017-04-20 -6.0 0.5 Likely benign 0 -388473 Simple 779303344 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified 2017-07-20 -0.6 0.5 Uncertain significance 0 -388482 Simple 542953863 A . Likely benign 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-14 -6.0 0.5 Likely benign 0 -388486 Simple 148223734 T . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-05-19 -6.0 0.5 Likely benign 0 -388491 Simple 552881314 A . Likely benign 2 2 Brugada syndrome 8;not specified 2017-05-25 -6.0 0.5 Likely benign 0 -388494 Simple 370787356 T . Uncertain significance 2 2 Glycogen storage disease type III;not specified 2017-07-17 -0.6 0.5 Uncertain significance 0 -388510 Simple 773792624 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-16 -0.6 1.0 Uncertain significance 0 -388515 Simple 1057523136 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-01-23 -6.0 1.0 Likely benign 0 -388525 Simple 200103145 T . Benign/Likely benign 2 2 DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified 2017-06-09 -9.0 0.5 Benign/Likely benign 0 -388534 Simple 147954962 T . Benign/Likely benign 2 2 not specified;Brown-Vialetto-Van Laere syndrome 2 2017-08-01 -9.0 0.0 Benign/Likely benign 0 -388542 Simple 749234758 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-08 -9.0 0.6666666666666666 Benign/Likely benign 1 -388544 Simple 551098654 T . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-06-06 -6.0 0.5 Likely benign 0 -388548 Simple 774644946 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -9.0 0.3333333333333333 Benign/Likely benign 1 -388553 Simple 768069197 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-07-13 -6.0 0.0 Likely benign 0 -388578 Simple 200002217 A . Likely benign 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2016-08-24 -6.0 1.0 Likely benign 0 -388592 Simple 1800267 C . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-07-27 -9.0 0.5 Benign/Likely benign 0 -388593 Simple 576446992 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-09-22 -6.0 0.0 Likely benign 0 -388596 Simple 750512029 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-15 -0.6 0.5 Uncertain significance 0 -388613 Simple 1057523168 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -6.0 0.5 Likely benign 0 -388630 Simple 190927208 T . Likely benign 2 2 not specified 2017-04-12 -6.0 0.0 Likely benign 0 -388633 Simple 141093593 T . Benign/Likely benign 2 2 Basal ganglia disease, biotin-responsive;not specified 2017-10-19 -9.0 0.0 Benign/Likely benign 0 -388667 Simple 1057523192 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-22 -6.0 1.0 Likely benign 0 -388690 Simple 142611699 T . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-05-30 -6.0 0.5 Likely benign 0 -388691 Simple 186451916 A . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-05-30 -6.0 0.5 Likely benign 0 -388694 Simple 34471889 T . Likely benign 2 2 Nemaline myopathy 2;not specified 2017-05-31 -6.0 0.5 Likely benign 0 -388704 Simple 187488637 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 1;not specified;Hereditary cancer-predisposing syndrome;Schwannomatosis 2017-08-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -388713 Simple 564894014 A . Likely benign 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-16 -8.7 0.6666666666666666 Benign/Likely benign 1 -388715 Simple 775803321 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -9.0 0.6666666666666666 Benign/Likely benign 1 -388716 Simple 1057523212 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-16 -5.7 1.5 Likely benign 0 -388722 Simple 1057523215 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -9.0 0.6666666666666666 Benign/Likely benign 1 -388758 Simple 368488126 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;not specified 2017-05-24 -6.0 0.5 Likely benign 0 -388761 Simple 149946100 T . Benign/Likely benign 2 2 not specified;Interstitial lung and liver disease;Charcot-Marie-Tooth disease, axonal, type 2u 2017-08-04 -9.0 0.0 Benign/Likely benign 0 -388810 Simple 1057523237 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-04-20 -6.0 0.5 Likely benign 0 -388814 Simple 757184235 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-22 -5.7 1.5 Likely benign 0 -388815 Simple 1057523239 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-24 -5.7 1.5 Likely benign 0 -388817 Simple 765207547 A . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -11.7 0.75 Benign/Likely benign 1 -388899 Simple 768005323 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -388904 Simple 1057523267 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -6.0 0.5 Likely benign 0 -388909 Simple 769204862 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-26 -5.7 1.5 Likely benign 0 -388926 Simple 1057523274 G . Likely pathogenic 2 2 Myofibrillar myopathy 1;not provided 2016-12-07 6.0 1.0 Likely pathogenic 0 -388930 Simple 199887811 A . Benign/Likely benign 2 2 Osteogenesis imperfecta type 8;not specified 2017-07-15 -9.0 0.5 Benign/Likely benign 0 -388963 Simple 773725513 A . Likely benign 2 2 Dilated cardiomyopathy 1W;not specified 2016-10-09 -6.0 1.0 Likely benign 0 -388973 Simple 758868965 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-14 -6.0 1.0 Likely benign 0 -388986 Simple 114516357 A . Likely benign 2 2 Pyridoxine-dependent epilepsy;not specified 2017-06-02 -6.0 0.0 Likely benign 0 -388987 Simple 143834670 G . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 31 2017-06-29 -9.0 0.0 Benign/Likely benign 0 -388993 Simple 142214506 T . Uncertain significance 2 2 not specified 2017-06-22 -0.6 0.5 Uncertain significance 0 -389010 Simple 751009774 T . Likely benign 2 2 Brugada syndrome 5;not specified 2017-07-28 -6.0 0.5 Likely benign 0 -389017 Simple 147795328 A . Benign 2 2 not specified;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 2017-07-11 -12.0 0.5 Benign/Likely benign 1 -389020 Simple 1057523304 T . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-07-16 -6.0 0.5 Likely benign 0 -389048 Simple 756518824 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-09 -6.0 0.5 Likely benign 0 -389060 Simple 55816606 T . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2017-10-09 -6.0 0.0 Likely benign 0 -389066 Simple 372518648 T . Likely benign 2 2 not specified 2016-08-29 -5.7 1.5 Likely benign 0 -389078 Simple 1057523316 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-01 -6.0 1.0 Likely benign 0 -389081 Simple 770759936 G . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-09-19 -6.0 1.0 Likely benign 0 -389086 Simple 775313366 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-12 -9.0 1.0 Benign/Likely benign 1 -389098 Simple 1057523328 G . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-05-29 -6.0 0.5 Likely benign 0 -389099 Simple 369346799 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -389102 Simple 377652373 G . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -389104 Simple 1057523330 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-03 -6.0 0.5 Likely benign 0 -389108 Simple 56182751 T . Likely benign 2 2 not specified 2017-02-01 -6.0 1.0 Likely benign 0 -389109 Simple 557317848 A . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 33 2017-06-05 -6.0 0.0 Likely benign 0 -389130 Simple 370942881 T . Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-27 -6.0 0.0 Likely benign 0 -389143 Simple 769828263 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-10-04 -6.0 0.5 Likely benign 0 -389148 Simple 368136394 T . Likely benign 2 2 Dilated cardiomyopathy 1DD;not specified 2017-08-28 -6.0 0.0 Likely benign 0 -389156 Simple 368695667 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-30 -6.0 0.0 Likely benign 0 -389167 Simple 777791883 T . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-12-07 -6.0 1.0 Likely benign 0 -389203 Simple 117833843 T . Benign 2 2 not specified;Interstitial lung and liver disease;Charcot-Marie-Tooth disease, axonal, type 2u 2016-12-27 -12.0 1.0 Benign/Likely benign 1 -389219 Simple 1057523364 C . Likely benign 2 2 not specified 2016-09-12 -6.0 1.0 Likely benign 0 -389225 Simple 764180554 A . Likely benign 2 2 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified 2017-05-05 -6.0 0.5 Likely benign 0 -389241 Simple 370958363 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-27 -9.0 0.6666666666666666 Benign/Likely benign 1 -389242 Simple 372985828 T . Likely benign 2 2 Colorectal cancer 10;not specified 2016-12-11 -6.0 1.0 Likely benign 0 -389258 Simple 536488280 T . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-29 -11.4 1.25 Benign/Likely benign 1 -389266 Simple 772646117 A . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-14 -6.0 0.5 Likely benign 0 -389268 Simple 143341972 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -6.0 0.5 Likely benign 0 -389286 Simple 1057523389 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;not specified 2017-06-29 -6.3 0.5 Likely benign 0 -389291 Simple 201143364 A . Likely benign 2 2 Brugada syndrome 8;not specified 2016-09-22 -6.0 1.0 Likely benign 0 -389301 Simple 749278926 T . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -11.7 1.0 Benign/Likely benign 1 -389324 Simple 1057523400 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;not specified 2016-09-20 -0.6 1.0 Uncertain significance 0 -389339 Simple 758505260 A . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2016-11-18 -6.0 1.0 Likely benign 0 -389343 Simple 1057523406 G . Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-04-21 6.0 0.5 Likely pathogenic 0 -389351 Simple 184154914 T . Likely benign 2 2 not specified 2016-10-25 -6.0 1.0 Likely benign 0 -389360 Simple 771902654 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-07-11 -6.0 0.0 Likely benign 0 -389376 Simple 45446697 T . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-05-24 -6.0 0.5 Likely benign 0 -389378 Simple 770904877 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-10 -9.0 0.6666666666666666 Benign/Likely benign 1 -389384 Simple 367993633 C . Likely benign 2 2 not specified 2017-07-26 -5.7 1.0 Likely benign 0 -389386 Simple 28730853 T . Benign 2 3 Alstrom syndrome;not specified;Monogenic diabetes 2017-08-12 -17.4 1.0 Benign/Likely benign 1 -389387 Simple 17009061 A . Benign 2 3 Alstrom syndrome;not specified;Monogenic diabetes 2017-08-12 -17.4 1.0 Benign/Likely benign 1 -389388 Simple 34617744 A . Benign 2 2 Alstrom syndrome;not specified 2017-08-12 -12.0 0.5 Benign/Likely benign 1 -389391 Simple 35530861 T . Benign 2 2 not specified;Noonan syndrome 9 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -389392 Simple 560223850 G . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-02 -9.0 0.5 Benign/Likely benign 0 -389426 Simple 769174301 C . Uncertain significance 2 2 Brody myopathy;not specified 2017-04-25 -0.6 0.5 Uncertain significance 0 -389432 Simple 111578044 T . Likely benign 2 2 not specified;RYR1-Related Disorders 2016-10-05 -6.0 1.0 Likely benign 0 -389454 Simple 961042365 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -6.0 0.5 Likely benign 0 -389458 Simple 774813458 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-03-13 -6.0 0.5 Likely benign 0 -389459 Simple 779747873 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -389468 Simple 1057523441 T . Likely benign 2 4 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-16 -11.7 1.0 Benign/Likely benign 1 -389491 Simple 201361742 A . Benign/Likely benign 2 2 not specified;Multiple congenital anomalies-hypotonia-seizures syndrome 2 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -389500 Simple 45517125 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -389510 Simple 144068763 T . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2016-12-24 -9.0 1.0 Benign/Likely benign 0 -389532 Simple 762178584 A . Benign/Likely benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -389538 Simple 774279454 T . Likely benign 2 2 Glycogen storage disease of heart, lethal congenital;not specified 2016-09-22 -6.0 1.0 Likely benign 0 -389541 Simple 77323602 C . Benign 2 3 Aortic aneurysm, familial thoracic 7;not specified 2017-01-27 -18.0 1.0 Benign/Likely benign 1 -389556 Simple 1057523469 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-20 -6.0 1.0 Likely benign 0 -389557 Simple 1057523470 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-22 -6.0 1.0 Likely benign 0 -389565 Simple 182725059 G . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -389567 Simple 72648204 A . Likely benign 2 2 not specified 2017-09-06 -6.0 0.5 Likely benign 0 -389571 Simple 61733293 A . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-05-01 -6.0 0.0 Likely benign 0 -389572 Simple 369730620 T . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-09-15 -6.0 0.5 Likely benign 0 -389573 Simple 561826525 A . Likely benign 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-02-09 -6.0 1.0 Likely benign 0 -389583 Simple 370094325 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-07-31 -6.0 0.5 Likely benign 0 -389586 Simple 556498170 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-09-29 -6.0 1.0 Likely benign 0 -389587 Simple 1057523477 C . Uncertain significance 2 2 Neurofibromatosis, type 1;not specified 2017-06-07 -0.6 0.5 Uncertain significance 0 -389590 Simple 80261173 A . Benign/Likely benign 2 2 Congenital hyperammonemia, type I;not specified 2017-11-07 -9.0 0.5 Benign/Likely benign 0 -389606 Simple 748380365 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-02-26 -6.0 1.0 Likely benign 0 -389610 Simple 778841767 T . Likely benign 2 2 Neuroblastoma 3;not specified 2017-07-25 -6.0 0.5 Likely benign 0 -389624 Simple 371904071 C . Uncertain significance 2 2 Alstrom syndrome;not specified 2016-12-24 -0.6 1.0 Uncertain significance 0 -389630 Simple 755614464 T . Likely benign 2 2 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified 2017-04-27 -6.0 0.5 Likely benign 0 -389664 Simple 144488384 G . Benign/Likely benign 2 2 not specified;Dilated cardiomyopathy 1KK 2017-06-21 -9.0 0.5 Benign/Likely benign 0 -389671 Simple 1057523503 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-08 -9.0 0.6666666666666666 Benign/Likely benign 1 -389676 Simple 1057523507 G . Likely benign 2 4 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -11.7 0.75 Benign/Likely benign 1 -389677 Simple 749308906 C . Likely benign 2 2 Lynch syndrome;not specified 2016-09-27 -6.0 1.0 Likely benign 0 -389687 Simple 7005111 T . Benign/Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -389688 Simple 6990761 G . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 2017-06-28 -6.0 0.5 Likely benign 0 -389720 Simple 542996664 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -8.7 1.0 Benign/Likely benign 1 -389730 Simple 763347860 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -9.0 1.0 Benign/Likely benign 1 -389740 Simple 758735370 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-28 -6.0 1.0 Likely benign 0 -389759 Simple 550240942 T . Benign 3 2 not specified;Rasopathy 2017-05-09 -9.6 0.5 Benign/Likely benign 1 -389763 Simple 771792080 G . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -6.0 0.5 Likely benign 0 -389780 Simple 377442022 T . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-09-26 -6.0 0.0 Likely benign 0 -389781 Simple 370464322 T . Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-10-09 -6.0 0.5 Likely benign 0 -389787 Simple 200427401 A . Likely benign 2 2 Nemaline myopathy 2;not specified 2017-05-30 -6.0 0.5 Likely benign 0 -389808 Simple 397515319 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -389814 Simple 373036085 T . Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2016-12-20 -6.0 1.0 Likely benign 0 -389840 Simple 772386098 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-13 -6.0 0.0 Likely benign 0 -389862 Simple 949077145 C . Likely benign 2 2 Retinoblastoma;not specified 2017-06-23 -6.0 0.5 Likely benign 0 -389863 Simple 1057523558 G . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -9.0 0.6666666666666666 Benign/Likely benign 1 -389869 Simple 192880105 T . Likely benign 2 2 not specified 2017-01-19 -6.0 1.0 Likely benign 0 -389874 Simple 1057523563 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -6.0 0.5 Likely benign 0 -389875 Simple 1057523564 T . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-26 -9.0 1.0 Benign/Likely benign 1 -389881 Simple 61758430 C . Benign/Likely benign 2 2 Hereditary sensory neuropathy type IE;not specified 2017-06-07 -9.0 0.5 Benign/Likely benign 0 -389883 Simple 755156050 T . Uncertain significance 2 2 Dilated cardiomyopathy 1O;not specified 2017-07-25 -0.6 0.5 Uncertain significance 0 -389887 Simple 780668435 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-05-23 -0.6 0.5 Uncertain significance 0 -389892 Simple 202207343 A . Likely benign 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-05-16 -6.0 0.5 Likely benign 0 -389896 Simple 139706811 T . Likely benign 2 2 not specified;Ventricular tachycardia, catecholaminergic polymorphic, 4;Long QT syndrome 14 2016-10-11 -6.0 1.0 Likely benign 0 -389902 Simple 374804871 T . Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-19 -6.0 0.5 Likely benign 0 -389919 Simple 369196245 A . Likely benign 2 2 Marshall-Smith syndrome;not specified;Sotos syndrome 2 2017-03-03 -6.0 1.0 Likely benign 0 -389932 Simple 960128787 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-11-07 -6.0 1.0 Likely benign 0 -389933 Simple 1057523588 C . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-03 -6.0 0.5 Likely benign 0 -389951 Simple 111682654 T . Benign/Likely benign 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2016-10-12 -9.0 1.0 Benign/Likely benign 0 -389956 Simple 760227470 A . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2016-10-14 -6.0 1.0 Likely benign 0 -389964 Simple 201411232 A . Benign/Likely benign 2 2 not specified 2017-05-05 -9.0 0.5 Benign/Likely benign 0 -389968 Simple 769114543 T . Uncertain significance 2 2 not specified;Myasthenic syndrome, congenital, 15 2017-07-27 -0.6 0.5 Uncertain significance 0 -389989 Simple 145535636 T . Likely benign 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-11 -9.0 1.0 Benign/Likely benign 1 -389991 Simple 747104908 T . Likely benign 2 2 not specified;Combined oxidative phosphorylation deficiency 17 2017-04-25 -6.0 0.5 Likely benign 0 -389998 Simple 141919148 A . Likely benign 2 2 METHYLCOBALAMIN DEFICIENCY, cblG TYPE;not specified 2017-07-11 -6.0 0.5 Likely benign 0 -390031 Simple 371944522 G . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-06-08 -6.0 0.0 Likely benign 0 -390033 Simple 772742148 A . Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-10-19 -6.0 1.0 Likely benign 0 -390036 Simple 149282970 A . Uncertain significance 2 2 not specified 2016-11-07 -0.6 1.0 Uncertain significance 0 -390039 Simple 112815265 A . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2017-07-14 -9.0 0.0 Benign/Likely benign 0 -390042 Simple 61730919 A . Likely benign 2 2 not specified 2017-01-27 -6.0 1.0 Likely benign 0 -390063 Simple 934764678 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-03 -8.7 0.6666666666666666 Benign/Likely benign 1 -390080 Simple 146289269 G . Benign/Likely benign 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -390081 Simple 116778145 T . Benign/Likely benign 2 2 T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified 2017-06-21 -9.0 0.5 Benign/Likely benign 0 -390082 Simple 115771646 A . Benign/Likely benign 2 2 T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified 2017-09-01 -9.0 0.0 Benign/Likely benign 0 -390103 Simple 368665838 A . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-05-05 -6.0 0.5 Likely benign 0 -390108 Simple 754274180 G . Benign/Likely benign 2 2 not specified;Left ventricular noncompaction 8 2016-10-19 -9.0 1.0 Benign/Likely benign 0 -390124 Simple 184053916 C . Benign 2 2 not specified 2017-01-03 -12.0 1.0 Benign/Likely benign 1 -390134 Simple 138389291 A . Likely benign 2 2 not specified;Loeys-Dietz syndrome 4 2016-11-14 -6.0 1.0 Likely benign 0 -390168 Simple 770930732 A . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-06-20 -6.0 0.5 Likely benign 0 -390181 Simple 1057523672 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-17 -5.7 1.5 Likely benign 0 -390183 Simple 147673996 T . Uncertain significance 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-05-26 -0.6 0.5 Uncertain significance 0 -390194 Simple 1057523676 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-10-17 -6.0 1.0 Likely benign 0 -390195 Simple 749259974 C . Likely benign 2 2 Osteogenesis imperfecta type 7;not specified 2017-05-10 -6.0 0.5 Likely benign 0 -390199 Simple 79330641 A . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-07-13 -9.0 0.0 Benign/Likely benign 0 -390214 Simple 376590737 A . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2016-12-17 -6.0 1.0 Likely benign 0 -390224 Simple 116054286 A . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2017-11-06 -9.0 0.0 Benign/Likely benign 0 -390233 Simple 147908860 T . Likely benign 2 2 Mental retardation, autosomal dominant 1;not specified 2017-04-03 -6.0 0.5 Likely benign 0 -390244 Simple 553692036 T . Likely benign 2 2 Giant axonal neuropathy;not specified 2017-05-15 -6.0 0.5 Likely benign 0 -390251 Simple 763154396 T . Likely benign 2 2 Alagille syndrome 1;not specified 2017-05-02 -6.0 0.5 Likely benign 0 -390267 Simple 780566379 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -9.0 0.6666666666666666 Benign/Likely benign 1 -390291 Simple 201739236 G . Likely benign 2 2 not specified 2017-06-26 -6.0 0.5 Likely benign 0 -390293 Simple 201681631 T . Likely benign 2 2 not specified 2016-10-28 -6.0 1.0 Likely benign 0 -390302 Simple 201816596 G . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-09-12 -0.6 0.0 Uncertain significance 0 -390309 Simple 377650301 G . Uncertain significance 2 2 not specified 2017-05-18 -0.6 0.5 Uncertain significance 0 -390314 Simple 1057523721 A . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-06-12 -0.6 0.5 Uncertain significance 0 -390333 Simple 764631900 C . Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-03-16 -6.0 0.5 Likely benign 0 -390335 Simple 758162927 T . Benign/Likely benign 2 2 Long QT syndrome;not specified 2016-10-25 -9.0 1.0 Benign/Likely benign 0 -390340 Simple 201704572 A . Likely benign 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2016-11-01 -6.0 1.0 Likely benign 0 -390350 Simple 35902379 T . Benign/Likely benign 2 2 Alstrom syndrome;not specified 2017-04-14 -9.0 0.5 Benign/Likely benign 0 -390356 Simple 370155559 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-13 -6.0 0.0 Likely benign 0 -390361 Simple 1057523743 G . Uncertain significance 2 2 not specified 2016-10-28 -0.6 1.0 Uncertain significance 0 -390378 Simple 562890289 T . Pathogenic/Likely pathogenic 2 2 Hereditary spastic paraplegia;not provided 2017-03-07 9.0 0.5 Pathogenic/Likely pathogenic 0 -390386 Simple 372002045 A . Likely benign 2 4 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -11.7 0.75 Benign/Likely benign 1 -390390 Simple 1057523756 G . Likely benign 2 2 Familial cancer of breast;not specified 2017-05-26 -6.0 0.0 Likely benign 0 -390405 Simple 184240527 A . Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-17 -6.0 0.0 Likely benign 0 -390416 Simple 746099594 T . Likely benign 2 2 Spastic paraplegia 7;not specified 2017-06-13 -6.0 0.5 Likely benign 0 -390432 Simple 371228733 G . Likely benign 2 2 Diamond-Blackfan anemia;not specified 2016-10-31 -6.0 1.0 Likely benign 0 -390445 Simple 568700183 A . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-06-18 -6.0 0.0 Likely benign 0 -390486 Simple 1057523791 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -6.0 0.5 Likely benign 0 -390503 Simple 11920433 C . Likely benign 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-05-22 -6.0 0.5 Likely benign 0 -390504 Simple 201028172 C . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-05-18 -0.6 0.5 Uncertain significance 0 -390510 Simple 138935423 T . Benign/Likely benign 2 2 Ataxia, spastic, 2, autosomal recessive;not specified 2017-07-24 -9.0 0.0 Benign/Likely benign 0 -390517 Simple 777735514 T . Benign/Likely benign 2 2 Mental retardation, autosomal dominant 1;not specified 2017-01-24 -9.0 1.0 Benign/Likely benign 0 -390518 Simple 371339601 T . Likely benign 2 2 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified 2016-11-14 -6.0 1.0 Likely benign 0 -390527 Simple 200918670 C . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-06-20 -6.0 0.5 Likely benign 0 -390535 Simple 144924053 T . Likely benign 2 2 Tuberous sclerosis 2;not specified 2016-12-11 -6.0 1.0 Likely benign 0 -390539 Simple 373444768 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-04-11 -6.0 0.5 Likely benign 0 -390551 Simple 1057523814 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -6.0 0.5 Likely benign 0 -390574 Simple 74949176 T . Benign/Likely benign 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2017-06-15 -9.0 0.0 Benign/Likely benign 0 -390575 Simple 566393354 T . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-28 -6.0 0.0 Likely benign 0 -390601 Simple 1057523833 G . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-08 -8.7 1.0 Benign/Likely benign 1 -390607 Simple 551984021 C . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.6 0.5 Uncertain significance 0 -390613 Simple 374230313 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-15 -9.0 0.6666666666666666 Benign/Likely benign 1 -390617 Simple 1057523842 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -12.0 0.25 Benign/Likely benign 1 -390633 Simple 146185976 T . Likely benign 2 2 Renal carnitine transport defect;not specified 2017-07-19 -6.0 0.5 Likely benign 0 -390645 Simple 116033693 G . Benign 2 2 Alstrom syndrome;not specified 2017-06-01 -12.0 0.5 Benign/Likely benign 1 -390649 Simple 144914741 C . Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-31 -6.0 0.5 Likely benign 0 -390673 Simple 752124959 T . Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-05-16 -6.0 0.5 Likely benign 0 -390703 Simple 946380047 A . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-03-21 -6.0 0.5 Likely benign 0 -390704 Simple 779898994 A . Likely benign 2 2 Colorectal cancer 10;not specified 2016-11-01 -6.0 1.0 Likely benign 0 -390707 Simple 1057523868 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-19 -8.7 1.0 Benign/Likely benign 1 -390708 Simple 748363227 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-03 -5.7 1.5 Likely benign 0 -390709 Simple 760263079 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -8.7 1.0 Benign/Likely benign 1 -390710 Simple 550757849 G . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-26 -8.7 1.0 Benign/Likely benign 1 -390718 Simple 368041880 C . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-05-15 -9.0 0.5 Benign/Likely benign 0 -390720 Simple 978561896 T . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2016-11-09 -6.0 1.0 Likely benign 0 -390723 Simple 145917628 C . Benign/Likely benign 2 2 not specified;Aortic aneurysm, familial thoracic 8 2017-11-09 -9.0 0.0 Benign/Likely benign 0 -390755 Simple 375784883 A . Likely benign 2 2 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified 2017-07-12 -6.0 0.0 Likely benign 0 -390758 Simple 371763584 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-05 -6.0 0.5 Likely benign 0 -390759 Simple 761933814 C . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2016-11-08 -6.0 1.0 Likely benign 0 -390781 Simple 188413410 A . Likely benign 2 2 Brugada syndrome;not specified 2017-09-05 -6.0 0.0 Likely benign 0 -390788 Simple 372827991 C . Likely benign 2 2 Mental retardation, autosomal dominant 7;not specified 2017-07-21 -6.0 0.5 Likely benign 0 -390802 Simple 1057523892 C . Likely benign 2 2 Neurofibromatosis, type 1;not specified 2017-06-15 -6.0 0.5 Likely benign 0 -390806 Simple 150607556 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-23 -6.0 1.0 Likely benign 0 -390813 Simple 397507719 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -6.0 0.5 Likely benign 0 -390815 Simple 1057523897 T . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-04 -6.0 0.5 Likely benign 0 -390816 Simple 770069897 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-18 -9.0 0.3333333333333333 Benign/Likely benign 1 -390829 Simple 769230282 G . Likely benign 2 2 Long QT syndrome;not specified 2017-01-27 -6.0 1.0 Likely benign 0 -390831 Simple 143268242 G . Benign/Likely benign 2 2 not specified;Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 2017-09-25 -9.0 0.0 Benign/Likely benign 0 -390834 Simple 114039725 A . Likely benign 2 2 not specified 2016-11-17 -5.7 1.5 Likely benign 0 -390843 Simple 767446687 C . Likely benign 2 2 not specified 2016-11-17 -6.0 1.0 Likely benign 0 -390847 Simple 200494003 T . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -390849 Simple 201810745 T . Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-10 -6.0 0.5 Likely benign 0 -390872 Simple 147580966 C . Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-03-01 -6.0 1.0 Likely benign 0 -390877 Simple 758830037 C . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-12 -9.0 0.0 Benign/Likely benign 1 -390901 Simple 201055779 G . Benign/Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-05-01 -9.0 0.5 Benign/Likely benign 0 -390911 Simple 187810230 T . Benign/Likely benign 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -390912 Simple 78870657 G . Likely benign 2 3 not specified;Spastic paraplegia 2017-01-05 -9.0 1.0 Benign/Likely benign 1 -390915 Simple 946941126 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -8.7 0.6666666666666666 Benign/Likely benign 1 -390920 Simple 61755047 A . Benign/Likely benign 2 2 Purine-nucleoside phosphorylase deficiency;not specified 2017-07-10 -9.0 0.5 Benign/Likely benign 0 -390930 Simple 139898175 A . Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-17 -6.0 0.5 Likely benign 0 -390933 Simple 377261686 T . Likely benign 2 3 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-03-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -390952 Simple 147416890 A . Benign/Likely benign 2 2 Congenital disorder of glycosylation type 1M;not specified 2017-08-22 -9.0 0.0 Benign/Likely benign 0 -390967 Simple 201769516 A . Benign/Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-03-21 -9.0 0.5 Benign/Likely benign 0 -390975 Simple 201392975 A . Benign/Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -390982 Simple 1057523939 A . Likely benign 2 2 Nemaline myopathy 7;not specified 2017-07-10 -6.0 0.5 Likely benign 0 -390994 Simple 190603219 A . Benign/Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -391004 Simple 200122629 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-11-14 -9.0 1.0 Benign/Likely benign 1 -391005 Simple 776062931 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -391006 Simple 1057523941 T . Likely benign 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-07 -12.0 0.5 Benign/Likely benign 1 -391007 Simple 371334601 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-11 -8.7 0.6666666666666666 Benign/Likely benign 1 -391010 Simple 1057523944 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -6.0 0.5 Likely benign 0 -391016 Simple 772609063 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-14 -5.7 1.5 Likely benign 0 -391038 Simple 745804540 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-14 -5.7 1.5 Likely benign 0 -391055 Simple 773130347 A . Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-07-31 -6.0 0.5 Likely benign 0 -391070 Simple 777949353 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-14 -9.0 0.6666666666666666 Benign/Likely benign 1 -391074 Simple 149742605 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-03-26 -6.0 0.5 Likely benign 0 -391078 Simple 1057523961 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-05 -6.0 0.5 Likely benign 0 -391094 Simple 970407823 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-04-28 -6.0 0.5 Likely benign 0 -391099 Simple 548566231 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-17 -6.0 1.0 Likely benign 0 -391101 Simple 1057523968 A . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -391104 Simple 1057523970 C . Likely benign 2 2 Juvenile polyposis syndrome;not specified 2017-03-28 -6.0 0.5 Likely benign 0 -391107 Simple 114697352 T . Benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -391109 Simple 201698008 A . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -391111 Simple 150135749 A . Benign/Likely benign 2 2 Nemaline myopathy 2;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -391121 Simple 1057523975 G . Likely benign 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -12.0 0.75 Benign/Likely benign 1 -391123 Simple 1057523976 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-22 -5.7 1.5 Likely benign 0 -391124 Simple 41553718 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -8.7 1.0 Benign/Likely benign 1 -391127 Simple 1057523978 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-11-21 -9.0 1.0 Benign/Likely benign 1 -391153 Simple 1057523990 T . Uncertain significance 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2016-12-14 -0.8999999999999999 1.0 Uncertain significance 0 -391161 Simple 779606786 A . Likely benign 2 2 Tuberous sclerosis 2;not specified 2016-11-28 -6.0 1.0 Likely benign 0 -391177 Simple 201182055 T . Likely benign 2 2 not specified;Left ventricular noncompaction 8 2017-06-07 -6.0 0.5 Likely benign 0 -391182 Simple 146385318 A . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-06-20 -6.0 0.0 Likely benign 0 -391195 Simple 747607700 A . Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2016-11-28 -6.0 1.0 Likely benign 0 -391221 Simple 776998846 T . Benign/Likely benign 2 2 Duchenne muscular dystrophy;not specified 2017-06-23 -9.0 0.5 Benign/Likely benign 0 -391222 Simple 759134022 A . Likely benign 2 2 not specified;Nemaline myopathy 8 2017-09-06 -6.0 0.0 Likely benign 0 -391226 Simple 370913170 T . Benign/Likely benign 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-07-21 -9.0 0.5 Benign/Likely benign 0 -391257 Simple 773567499 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -9.0 0.3333333333333333 Benign/Likely benign 1 -391266 Simple 368610064 A . Likely benign 2 2 not specified 2017-06-07 -6.0 0.5 Likely benign 0 -391273 Simple 369009290 A . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2016-12-05 -9.0 1.0 Benign/Likely benign 0 -391276 Simple 774128776 T . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-05-12 -6.0 0.5 Likely benign 0 -391280 Simple 774143296 A . Likely benign 2 2 Long QT syndrome;not specified 2017-07-11 -6.0 0.5 Likely benign 0 -391286 Simple 149049198 T . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-11 -9.0 0.0 Benign/Likely benign 0 -391304 Simple 143873931 A . Likely benign 2 2 not specified;Autosomal recessive cutis laxa type 1B 2017-02-08 -6.0 1.0 Likely benign 0 -391318 Simple 149947056 T . Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-07-27 -6.0 0.5 Likely benign 0 -391334 Simple 375331979 A . Likely benign 2 2 not specified;Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant 2017-05-02 -6.0 0.5 Likely benign 0 -391336 Simple 72940560 T . Benign/Likely benign 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-06-14 -9.0 0.0 Benign/Likely benign 0 -391340 Simple 762630771 C . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-25 -6.0 0.5 Likely benign 0 -391350 Simple 587781522 G . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -9.0 0.6666666666666666 Benign/Likely benign 1 -391364 Simple 1057524056 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-11-29 -6.0 1.0 Likely benign 0 -391365 Simple 1057524057 T . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-25 -6.0 0.5 Likely benign 0 -391387 Simple 541439106 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-23 -8.7 1.0 Benign/Likely benign 1 -391404 Simple 1057524069 T . Likely benign 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-30 -6.0 0.5 Likely benign 0 -391411 Simple 1057524073 C . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-19 -8.4 1.3333333333333333 Benign/Likely benign 1 -391413 Simple 142432944 T . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 31 2017-03-17 -6.0 0.5 Likely benign 0 -391415 Simple 144848710 A . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-10-16 -6.0 0.0 Likely benign 0 -391420 Simple 867074778 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-03-27 -8.7 1.0 Benign/Likely benign 1 -391439 Simple 372702302 C . Benign/Likely benign 2 2 Brugada syndrome;not specified 2016-12-20 -9.0 1.0 Benign/Likely benign 0 -391444 Simple 146180894 A . Likely benign 2 2 Homocystinuria due to CBS deficiency;not specified 2017-11-01 -6.0 0.0 Likely benign 0 -391445 Simple 1057524087 G . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2016-12-07 -0.6 1.0 Uncertain significance 0 -391447 Simple 367648094 C . Likely benign 2 2 Alstrom syndrome;not specified 2016-12-06 -6.0 1.0 Likely benign 0 -391448 Simple 147831309 T . Benign/Likely benign 2 3 Alstrom syndrome;not specified 2017-08-28 -12.0 0.3333333333333333 Benign/Likely benign 0 -391457 Simple 1057524089 A . Pathogenic 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not provided 2017-01-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -391477 Simple 772743023 A . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-12-13 -8.7 1.3333333333333333 Benign/Likely benign 1 -391501 Simple 377300843 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-07 -8.7 1.0 Benign/Likely benign 1 -391502 Simple 1057524110 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-02-28 -6.0 1.0 Likely benign 0 -391503 Simple 1057524111 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-02 -6.0 1.0 Likely benign 0 -391505 Simple 369436095 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-02 -5.7 1.5 Likely benign 0 -391508 Simple 370175724 G . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2016-12-01 -6.0 1.0 Likely benign 0 -391515 Simple 371613636 T . Likely benign 2 2 Brugada syndrome;not specified 2016-12-12 -6.0 1.0 Likely benign 0 -391535 Simple 368077581 A . Uncertain significance 2 2 Joubert syndrome;not specified 2017-02-07 -0.6 1.0 Uncertain significance 0 -391536 Simple 775536644 A . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 26 2017-07-28 -6.0 0.0 Likely benign 0 -391537 Simple 774234576 T . Likely benign 2 2 Progressive myoclonic epilepsy;not specified 2017-06-12 -6.0 0.0 Likely benign 0 -391549 Simple 914754937 C . Benign/Likely benign 2 2 Myopathy with postural muscle atrophy, X-linked;not specified 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -391581 Simple 150520884 T . Benign/Likely benign 2 2 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified 2017-06-13 -9.0 0.5 Benign/Likely benign 0 -391582 Simple 79795428 A . Benign/Likely benign 2 2 Glycogen storage disease, type II;not specified 2017-08-18 -9.0 0.0 Benign/Likely benign 0 -391583 Simple 147074020 A . Likely benign 2 2 not specified 2016-12-08 -6.0 1.0 Likely benign 0 -391635 Simple 369346436 T . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-02-14 -9.0 1.0 Benign/Likely benign 0 -391653 Simple 369709529 T . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-06 -8.7 1.3333333333333333 Benign/Likely benign 1 -391656 Simple 1057524179 C . Uncertain significance 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-04-20 -0.6 0.5 Uncertain significance 0 -391674 Simple 748315431 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-12 -5.7 1.5 Likely benign 0 -391689 Simple 767667847 A . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-09-21 -0.6 0.0 Uncertain significance 0 -391703 Simple 1057524200 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-01-03 -0.6 1.0 Uncertain significance 0 -391708 Simple 752620885 A . Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-17 -6.0 0.5 Likely benign 0 -391716 Simple 9282603 G . Uncertain significance 2 2 Familial hypercholesterolemia;not specified 2016-12-29 -0.5700000000000001 1.5 Uncertain significance 0 -391769 Simple 766747690 G . Uncertain significance 2 2 not specified;Walker-Warburg congenital muscular dystrophy 2016-12-15 -0.6 1.0 Uncertain significance 0 -391783 Simple 752174650 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-05-20 -6.0 0.5 Likely benign 0 -391785 Simple 182767009 A . Benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-03-21 -12.0 0.5 Benign/Likely benign 1 -391821 Simple 1028929208 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -8.7 1.0 Benign/Likely benign 1 -391823 Simple 566093923 A . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -8.7 1.0 Benign/Likely benign 1 -391845 Simple 376828693 T . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-09-12 -6.0 0.0 Likely benign 0 -391846 Simple 45499991 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -5.7 1.0 Likely benign 0 -391870 Simple 770416802 C . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -391899 Simple 200897773 T . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-09-20 -0.6 0.5 Uncertain significance 0 -391911 Simple 1057524285 C . Uncertain significance 2 2 Brugada syndrome 8;not specified 2017-04-06 -0.6 0.5 Uncertain significance 0 -391942 Simple 1057524298 C . Likely benign 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -11.7 1.0 Benign/Likely benign 1 -391950 Simple 772038670 T . Likely benign 2 3 Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -8.7 1.0 Benign/Likely benign 1 -391953 Simple 145009331 C . Likely benign 2 2 Alstrom syndrome;not specified 2016-12-29 -6.0 1.0 Likely benign 0 -391955 Simple 201154998 A . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-01-04 -0.6 1.0 Uncertain significance 0 -391967 Simple 1057524305 G . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-12-29 -6.0 1.0 Likely benign 0 -391969 Simple 781713438 G . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-03-20 -0.6 0.5 Uncertain significance 0 -391989 Simple 149096794 C . Likely benign 2 2 Alstrom syndrome;not specified 2017-09-29 -6.0 0.5 Likely benign 0 -392009 Simple 536126761 T . Benign/Likely benign 2 2 Shprintzen-Goldberg syndrome;not specified 2017-01-20 -9.0 1.0 Benign/Likely benign 0 -392015 Simple 371529625 A . Uncertain significance 2 2 Congenital disorder of glycosylation type 1M;not specified 2017-07-10 -0.6 0.0 Uncertain significance 0 -392024 Simple 1057524328 G . Likely benign 2 2 Rett syndrome, congenital variant;not specified 2017-03-04 -6.0 1.0 Likely benign 0 -392026 Simple 1057524330 T . Uncertain significance 2 2 not specified;Hyperphosphatasia with mental retardation syndrome 2 2017-03-04 -0.6 1.0 Uncertain significance 0 -392027 Simple 775809843 G . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-02-20 -0.6 1.0 Uncertain significance 0 -392034 Simple 780344110 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -9.0 0.6666666666666666 Benign/Likely benign 1 -392037 Simple 778691867 G . Likely benign 2 2 Familial adenomatous polyposis 1;not specified 2017-03-17 -6.0 0.5 Likely benign 0 -392041 Simple 767011677 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-24 -8.7 1.0 Benign/Likely benign 1 -392044 Simple 117864464 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -392076 Simple 146087540 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-01-26 -0.6 1.0 Uncertain significance 0 -392082 Simple 769419803 A . Uncertain significance 2 2 not specified;Tatton-Brown-rahman syndrome 2017-10-12 -0.6 0.5 Uncertain significance 0 -392083 Simple 561858384 T . Uncertain significance 2 2 not specified 2016-12-23 -0.6 1.0 Uncertain significance 0 -392091 Simple 1057524353 T . Likely benign 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -12.0 0.5 Benign/Likely benign 1 -392094 Simple 78870221 T . Likely benign 2 4 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -12.0 0.75 Benign/Likely benign 1 -392109 Simple 56116528 A . Benign/Likely benign 2 2 Neuroblastoma 3;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -392163 Simple 144584524 A . Benign/Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2017-09-01 -9.0 0.0 Benign/Likely benign 0 -392178 Simple 1057524385 C . Likely pathogenic 2 2 Fumarase deficiency;not provided 2017-08-09 6.0 0.5 Likely pathogenic 0 -392194 Simple 778290623 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-19 -5.7 1.5 Likely benign 0 -392195 Simple 757624360 T . Likely benign 2 2 Fanconi anemia, complementation group O;not specified 2017-07-03 -6.0 0.5 Likely benign 0 -392205 Simple 374944458 G . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2016-12-30 -6.0 1.0 Likely benign 0 -392206 Simple 369957068 A . Likely benign 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-02-13 -6.0 1.0 Likely benign 0 -392256 Simple 151287975 A . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-02-28 -9.0 1.0 Benign/Likely benign 0 -392275 Simple 144290224 T . Likely benign 2 2 not specified;Brown-Vialetto-Van Laere syndrome 2 2017-06-29 -6.0 0.0 Likely benign 0 -392283 Simple 775431508 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-09 -6.0 0.5 Likely benign 0 -392284 Simple 765445494 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-10 -8.7 1.3333333333333333 Benign/Likely benign 1 -392293 Simple 745422385 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-06 -6.0 0.5 Likely benign 0 -392296 Simple 1057524433 A . Pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-03-04 12.0 1.0 Pathogenic/Likely pathogenic 1 -392307 Simple 1057524438 A . Uncertain significance 2 2 not specified;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 2017-04-20 -0.6 0.5 Uncertain significance 0 -392335 Simple 201762017 T . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-06-08 -0.6 0.5 Uncertain significance 0 -392340 Simple 376370234 G . Likely benign 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-27 -6.0 0.5 Likely benign 0 -392356 Simple 34147460 A . Benign 2 2 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified 2017-02-27 -12.0 1.0 Benign/Likely benign 1 -392397 Simple 199903533 T . Likely benign 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-08-02 -6.0 0.5 Likely benign 0 -392398 Simple 140904010 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-23 -9.0 0.5 Benign/Likely benign 0 -392419 Simple 769984654 C . Likely benign 2 2 not specified 2016-12-29 -4.5 3.5 Likely benign 0 -392449 Simple 1046382297 C . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-06-09 -6.0 0.5 Likely benign 0 -392470 Simple 376215607 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-08-04 -0.6 0.5 Uncertain significance 0 -392503 Simple 200259754 C . Uncertain significance 2 2 Congenital disorder of glycosylation type 2J;not specified 2017-08-04 -0.6 0.5 Uncertain significance 0 -392520 Simple 200336897 T . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-04-02 -0.6 0.5 Uncertain significance 0 -392535 Simple 754086897 T . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-06-20 -0.6 0.5 Uncertain significance 0 -392536 Simple 61751555 A . Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-06-20 -6.0 0.5 Likely benign 0 -392537 Simple 61751533 A . Benign/Likely benign 2 2 not specified;Adams-Oliver syndrome 5 2017-04-17 -9.0 0.5 Benign/Likely benign 0 -392547 Simple 369372561 A . Uncertain significance 2 2 Cardiac arrhythmia;not specified 2017-01-11 -0.6 1.0 Uncertain significance 0 -392556 Simple 147176678 T . Benign/Likely benign 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-07-24 -9.0 0.5 Benign/Likely benign 0 -392559 Simple 141945240 C . Benign/Likely benign 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;not specified 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -392561 Simple 138751942 T . Likely benign 2 2 Dysferlinopathy;not specified 2017-05-24 -6.0 0.5 Likely benign 0 -392581 Simple 1057524550 C . Likely benign 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-01-23 -7.5 2.6666666666666665 Likely benign 0 -392606 Simple 142069844 T . Uncertain significance 2 2 not specified;Loeys-Dietz syndrome 4 2017-01-10 -0.6 1.0 Uncertain significance 0 -392612 Simple 144946187 A . Likely benign 2 2 Primary dilated cardiomyopathy;not specified 2017-09-08 -6.0 0.5 Likely benign 0 -392620 Simple 1057524564 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-04 -6.0 1.0 Likely benign 0 -392650 Simple 1057524579 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-02 -9.0 1.0 Benign/Likely benign 1 -392667 Simple 760012115 T . Likely benign 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-05-09 -6.0 0.5 Likely benign 0 -392687 Simple 368555478 T . Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-07-27 -6.0 0.5 Likely benign 0 -392704 Simple 761171176 A . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-07-27 -0.6 0.5 Uncertain significance 0 -392707 Simple 754586558 A . Uncertain significance 2 2 not specified 2017-01-11 -0.5700000000000001 1.5 Uncertain significance 0 -392711 Simple 1057524600 A . Likely benign 2 2 Familial cancer of breast;not specified 2017-10-26 -6.0 0.5 Likely benign 0 -392714 Simple 752220575 A . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -12.0 0.5 Benign/Likely benign 1 -392717 Simple 533545710 G . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-05 -8.7 1.3333333333333333 Benign/Likely benign 1 -392718 Simple 143974331 T . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -8.7 0.6666666666666666 Benign/Likely benign 1 -392788 Simple 755968982 A . Likely benign 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-04-07 -6.0 0.5 Likely benign 0 -392812 Simple 376451611 T . Uncertain significance 2 2 not specified 2017-01-20 -0.6 1.0 Uncertain significance 0 -392818 Simple 200305092 C . Likely benign 2 2 Cardiac arrhythmia;not specified 2017-01-23 -6.0 1.0 Likely benign 0 -392854 Simple 771342023 A . Likely benign 2 2 Epilepsy, focal, with speech disorder and with or without mental retardation;not specified 2017-01-15 -6.0 1.0 Likely benign 0 -392882 Simple 1057524677 A . Pathogenic/Likely pathogenic 2 2 not provided 2017-04-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -392893 Simple 1057524685 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-13 -8.7 1.0 Benign/Likely benign 1 -392958 Simple 767894239 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-03-17 -6.0 0.5 Likely benign 0 -392972 Simple 560986491 T . Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-06-12 -6.0 0.5 Likely benign 0 -392976 Simple 764767361 A . Likely benign 2 2 Tuberous sclerosis 2;not specified 2017-06-22 -6.0 0.5 Likely benign 0 -392983 Simple 767202483 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-23 -6.0 0.5 Likely benign 0 -393007 Simple 150874422 G . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-02-16 -0.6 1.0 Uncertain significance 0 -393008 Simple 144643941 C . Uncertain significance 2 3 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-01-25 -0.8999999999999999 1.0 Uncertain significance 0 -393012 Simple 1057524740 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-08-03 -0.6 0.5 Uncertain significance 0 -393018 Simple 201252809 A . Uncertain significance 2 3 Alstrom syndrome;not specified;not provided 2017-09-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -393021 Simple 727503272 G . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-31 -0.6 0.5 Uncertain significance 0 -393034 Simple 761937276 A . Uncertain significance 2 2 Adenylosuccinate lyase deficiency;not specified 2017-01-18 -0.6 1.0 Uncertain significance 0 -393042 Simple 111709550 A . Likely benign 2 4 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-12 -11.7 0.75 Benign/Likely benign 1 -393056 Simple 1057524762 C . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-07 -0.6 0.5 Uncertain significance 0 -393077 Simple 1057524774 T . Likely benign 2 2 Colorectal cancer 10;not specified 2017-01-17 -6.0 1.0 Likely benign 0 -393090 Simple 770199753 G . Uncertain significance 2 2 not specified 2017-01-25 -0.6 1.0 Uncertain significance 0 -393105 Simple 142407935 A . Likely benign 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -393107 Simple 377415279 A . Likely benign 2 2 Early infantile epileptic encephalopathy 9;not specified 2017-02-23 -6.0 1.0 Likely benign 0 -393134 Simple 1057524804 G . Uncertain significance 2 2 Timothy syndrome;not specified 2017-04-13 -0.6 0.5 Uncertain significance 0 -393140 Simple 1057524809 T . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -393144 Simple 752611524 A . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-01-24 -0.6 1.0 Uncertain significance 0 -393149 Simple 770477104 T . Uncertain significance 2 2 not specified;not provided 2017-02-28 -0.6 1.0 Uncertain significance 0 -393150 Simple 377701152 G . Uncertain significance 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-04-22 -0.6 0.5 Uncertain significance 0 -393180 Simple 758895760 A . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-01-23 -0.6 1.0 Uncertain significance 0 -393183 Simple 761795291 T . Uncertain significance 2 2 Neurofibromatosis, type 2;not specified 2017-04-11 -0.6 0.5 Uncertain significance 0 -393196 Simple 143667339 T . Uncertain significance 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-05-23 -0.6 0.5 Uncertain significance 0 -393211 Simple 760669267 A . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-01-30 -0.6 1.0 Uncertain significance 0 -393234 Simple 1057524848 A . Pathogenic 2 2 not provided 2017-02-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -393252 Simple 370398704 T . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-07-11 -0.6 0.5 Uncertain significance 0 -393379 Simple 142022233 G . Benign 2 2 Alstrom syndrome;Monogenic diabetes 2017-07-28 -12.0 0.5 Benign/Likely benign 1 -393386 Simple 141233896 G . Uncertain significance 2 2 not specified;Monogenic diabetes 2017-07-07 -0.5700000000000001 1.0 Uncertain significance 0 -393392 Simple 76476980 A . Uncertain significance 2 2 not specified;Monogenic diabetes 2015-10-27 -0.54 2.0 Uncertain significance 0 -393393 Simple 36030668 G . Benign/Likely benign 2 2 not specified;Monogenic diabetes 2015-12-15 -8.100000000000001 2.0 Likely benign 1 -393431 Simple 778093697 - . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;Monogenic diabetes 2016-07-10 -0.5700000000000001 1.5 Uncertain significance 0 -393444 Simple 145902391 A . Uncertain significance 2 2 not specified;Monogenic diabetes 2017-03-21 -0.5700000000000001 1.0 Uncertain significance 0 -393491 Simple 782746707 . . Uncertain significance 2 2 not specified 2017-05-23 -0.5700000000000001 1.0 Uncertain significance 0 -393558 Simple . TT . Pathogenic 2 3 Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-10-19 18.0 0.6666666666666666 Pathogenic 0 -393565 Simple 768182640 CA . Pathogenic 2 3 Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome 2017-03-07 18.0 0.6666666666666666 Pathogenic 0 -393568 Simple 1060499635 - . Likely pathogenic 2 2 Hereditary leiomyomatosis and renal cell cancer;Hereditary cancer-predisposing syndrome 2017-06-02 6.0 0.5 Likely pathogenic 0 -393576 Simple 1060499641 - . Pathogenic 2 2 Hereditary leiomyomatosis and renal cell cancer;Hereditary cancer-predisposing syndrome 2017-01-31 12.0 1.0 Pathogenic/Likely pathogenic 1 -397511 Simple 121908816 - . Pathogenic/Likely pathogenic 2 4 Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 24.0 0.25 Pathogenic 1 -397621 Simple 750958357 - . Uncertain significance 2 5 Charcot-Marie-Tooth disease, type IV;not specified;not provided;Peripheral neuropathy 2017-09-20 -1.5 0.4 Uncertain significance 0 -397627 Simple 138962786 A . Uncertain significance 2 2 not specified;Global developmental delay 2017-02-21 -0.6 1.0 Uncertain significance 0 -402131 Simple 773618224 A . Pathogenic/Likely pathogenic 2 1 Abnormality of brain morphology;Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2017-12-11 . 0.0 . 0 -402179 Simple 199422146 - . Pathogenic/Likely pathogenic 2 1 Primary autosomal recessive microcephaly 5;not provided;Microcephaly 2015-04-02 . 2.0 . 0 -402183 Simple 752450983 A . Likely pathogenic 2 1 not provided;Intellectual disability;Global developmental delay 2017-03-10 . 0.0 . 0 -402190 Simple 1060499763 C . Pathogenic/Likely pathogenic 2 1 Multiple congenital anomalies-hypotonia-seizures syndrome 1;Abnormality of brain morphology 2017-12-06 . 0.0 . 0 -402289 Simple 1060499814 T . Likely pathogenic 2 5 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-05-01 15.0 0.4 Pathogenic 2 -402290 Simple 1060499815 TT . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-09 10.8 1.5 Pathogenic/Likely pathogenic 1 -402293 Simple 752349785 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-18 -5.4 2.0 Likely benign 0 -402297 Simple 753583700 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-12 -5.4 1.5 Likely benign 0 -402306 Simple 1060499827 G . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-03 6.0 1.0 Likely pathogenic 0 -402307 Simple 1060499828 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-06-24 11.4 1.5 Pathogenic/Likely pathogenic 1 -402308 Simple 755609496 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-02-23 -1.2 1.0 Uncertain significance 0 -402310 Simple 1060499830 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-01 15.0 1.0 Pathogenic 1 -402340 Simple 394105 T . Benign 2 2 not specified 2017-04-11 -12.0 0.5 Benign/Likely benign 1 -402372 Simple 41291161 T . Benign/Likely benign 2 3 Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1 2017-06-26 -12.0 0.6666666666666666 Benign/Likely benign 0 -402376 Simple 148498577 C . Uncertain significance 2 2 Hypercholesterolemia, autosomal dominant, type B;not specified;Hypobetalipoproteinemia, familial, 1 2017-04-12 -0.6 0.5 Uncertain significance 0 -402382 Simple 12720843 G . Uncertain significance 2 2 Hypercholesterolemia, autosomal dominant, type B;not specified;Hypobetalipoproteinemia, familial, 1 2017-06-21 -0.6 0.5 Uncertain significance 0 -402467 Simple 758166168 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-04-14 -0.6 0.5 Uncertain significance 0 -402534 Simple 565457964 AA . Uncertain significance 2 2 not specified 2016-03-29 -0.5700000000000001 1.5 Uncertain significance 0 -402568 Simple 11296619 - . Benign 2 2 not specified 2017-10-18 -12.0 0.5 Benign/Likely benign 1 -402592 Simple 367764979 - . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-02 -9.0 1.0 Benign/Likely benign 0 -402597 Simple 144034147 T . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-10-24 -0.6 1.0 Uncertain significance 0 -402629 Simple 554657293 A . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2016-05-22 -0.6 1.0 Uncertain significance 0 -402729 Simple 150817911 - . Benign 2 2 Primary ciliary dyskinesia;not specified 2016-12-29 -12.0 1.0 Benign/Likely benign 1 -402730 Simple 760980208 - . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2016-12-29 -9.0 1.0 Benign/Likely benign 0 -402771 Simple 61757218 T . Benign/Likely benign 2 2 Primary ciliary dyskinesia;not specified 2017-07-21 -9.0 0.5 Benign/Likely benign 0 -402793 Simple 112565335 - . Benign 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified 2017-07-11 -12.0 0.5 Benign/Likely benign 1 -402799 Simple 35313480 A . Benign 2 2 Primary ciliary dyskinesia;not specified 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -402875 Simple 17849971 A . Benign 2 2 not specified;Periodontitis 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -403051 Simple 11735845 A . Benign 2 2 not specified;Common variable immunodeficiency 8, with autoimmunity 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -403052 Simple 35879351 A . Benign/Likely benign 2 2 not specified;Common variable immunodeficiency 8, with autoimmunity 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -403081 Simple 386833403 T . Uncertain significance 2 3 Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -403115 Simple 35986685 G . Benign 2 2 not specified;not provided 2017-06-15 -12.0 0.5 Benign/Likely benign 1 -403205 Simple 1060499878 A . Uncertain significance 2 2 not specified 2017-09-06 -0.6 0.5 Uncertain significance 0 -403208 Simple 773599095 T . Uncertain significance 2 2 not specified 2016-08-11 -0.6 1.0 Uncertain significance 0 -403212 Simple 368390254 T . Uncertain significance 2 3 Aortic aneurysm, familial thoracic 7;Atrial septal defect;not specified 2017-07-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -403235 Simple 11574853 A . Benign 2 2 not specified;Common variable immunodeficiency 10 2017-07-21 -12.0 0.5 Benign/Likely benign 1 -403238 Simple 34716166 G . Benign/Likely benign 2 2 not specified;Autoinflammation with infantile enterocolitis;Familial cold autoinflammatory syndrome 4 2017-08-02 -9.0 0.5 Benign/Likely benign 0 -403243 Simple 4925543 G . Benign 2 2 not specified 2016-03-28 -11.4 1.5 Benign/Likely benign 1 -403244 Simple 61841189 T . Benign/Likely benign 2 2 not specified;not provided 2017-04-30 -9.0 0.5 Benign/Likely benign 0 -403289 Simple 149489325 A . Uncertain significance 2 2 Familial hypercholesterolemia;not specified 2016-12-02 -0.5700000000000001 1.5 Uncertain significance 0 -403319 Simple 1143687 T . Benign 2 2 not specified 2017-02-23 -12.0 1.0 Benign/Likely benign 1 -403333 Simple 373468985 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-31 -0.6 0.5 Uncertain significance 0 -403334 Simple 748522633 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-02-24 -0.8999999999999999 1.0 Uncertain significance 0 -403366 Simple 748094394 A . Uncertain significance 2 3 Retinoblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -0.8999999999999999 1.0 Uncertain significance 0 -403378 Simple 7805216 A . Benign 2 2 not specified 2017-01-30 -12.0 1.0 Benign/Likely benign 1 -403420 Simple 1060499900 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-07-17 -0.6 0.5 Uncertain significance 0 -403493 Simple 2066807 G . Benign 2 2 not specified;Immunodeficiency 44 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -403520 Simple 1060499906 . . Benign/Likely benign 2 2 not specified;not provided 2017-06-05 -9.0 0.5 Benign/Likely benign 0 -403581 Simple 536863126 - . Benign 2 2 not specified 2016-03-29 -11.4 1.5 Benign/Likely benign 1 -403601 Simple 28617395 T . Benign 2 2 not specified 2016-06-27 -12.0 1.0 Benign/Likely benign 1 -403609 Simple 116757787 A . Benign/Likely benign 2 2 not specified;Wiskott-Aldrich syndrome 2 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -403633 Simple 1064792905 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -403713 Simple . CATCAT . Uncertain significance 2 2 Neoplasm of ovary;not specified;Hereditary cancer-predisposing syndrome 2017-02-28 -0.5700000000000001 1.5 Uncertain significance 0 -403730 Simple 758865880 A . Pathogenic/Likely pathogenic 2 2 not provided;Congenital NAD deficiency disorder;VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 2017-10-30 9.0 0.5 Pathogenic/Likely pathogenic 0 -403731 Simple 1135401745 - . Pathogenic 2 2 not provided;Congenital NAD deficiency disorder;VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 2017-09-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -403750 Simple 121913321 CC . Pathogenic 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-05-20 10.2 2.5 Pathogenic/Likely pathogenic 1 -403763 Simple 567896256 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-12-09 -0.6 1.0 Uncertain significance 0 -403771 Simple 1060499957 G . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-07-02 -0.5700000000000001 1.5 Uncertain significance 0 -403774 Simple 876659704 CT . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.5 Uncertain significance 0 -403777 Simple 770503805 T . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -403781 Simple 148830698 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-09-25 -1.14 1.5 Uncertain significance 0 -403794 Simple 749927908 T . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -0.8999999999999999 0.0 Uncertain significance 0 -403796 Simple 864622448 T . Uncertain significance 2 4 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -1.2 0.5 Uncertain significance 0 -403802 Simple 1060499974 A . Pathogenic 2 3 Multiple endocrine neoplasia, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-03-15 17.4 1.0 Pathogenic 0 -403811 Simple 772588551 A . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;not provided 2017-08-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -403812 Simple 1046929915 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-10-09 -0.5700000000000001 1.5 Uncertain significance 0 -403816 Simple 761102084 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-12-22 -0.6 1.0 Uncertain significance 0 -403821 Simple 774296730 G . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.0 Uncertain significance 0 -403830 Simple 773089218 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.0 Uncertain significance 0 -403837 Simple 1060499990 - . Pathogenic/Likely pathogenic 2 2 Multiple endocrine neoplasia, type 1;not provided 2016-11-25 9.0 1.0 Pathogenic/Likely pathogenic 0 -403838 Simple 750904332 T . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-08-08 9.6 2.5 Pathogenic/Likely pathogenic 1 -403848 Simple 758404089 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-10-18 -0.6 0.0 Uncertain significance 0 -403876 Simple 778396216 C . Uncertain significance 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-02-03 -0.6 1.0 Uncertain significance 0 -403927 Simple 201252375 T . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-11-07 -0.6 0.5 Uncertain significance 0 -403935 Simple 372619046 A . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-10-17 -0.6 0.5 Uncertain significance 0 -403937 Simple 1060500037 T . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-06-05 -0.6 0.5 Uncertain significance 0 -403938 Simple 201874722 T . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-05-05 -0.6 0.5 Uncertain significance 0 -403950 Simple 202111717 G . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-08-01 -0.6 0.0 Uncertain significance 0 -404071 Simple 1060500084 AA . Uncertain significance 2 2 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-03-15 -0.5700000000000001 1.0 Uncertain significance 0 -404078 Simple 201155045 G . Uncertain significance 2 2 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-04-17 -0.6 0.5 Uncertain significance 0 -404100 Simple 56164833 A . Uncertain significance 2 2 not provided;Early infantile epileptic encephalopathy 2017-07-19 -0.6 0.0 Uncertain significance 0 -404106 Simple 200547781 A . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -404112 Simple 543022814 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 1C;not specified 2017-03-27 -0.6 0.5 Uncertain significance 0 -404120 Simple 201742383 T . Uncertain significance 2 2 Brugada syndrome 8;not specified 2017-06-22 -0.6 0.0 Uncertain significance 0 -404127 Simple 756052150 T . Uncertain significance 2 2 Brugada syndrome 8;not specified 2017-08-03 -0.6 0.5 Uncertain significance 0 -404146 Simple 776763121 G . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -404149 Simple 1060500115 TT . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-12-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -404154 Simple 748240670 G . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-23 -0.8999999999999999 1.0 Uncertain significance 0 -404156 Simple 1060500119 - . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-06-12 10.8 2.0 Pathogenic/Likely pathogenic 1 -404162 Simple 1057520900 G . Pathogenic 2 2 PTEN hamartoma tumor syndrome;not provided 2017-07-06 11.4 1.0 Pathogenic/Likely pathogenic 1 -404163 Simple 1060500121 A . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.0 Uncertain significance 0 -404164 Simple 1060500122 T . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-11-23 12.0 1.0 Pathogenic/Likely pathogenic 1 -404168 Simple 1060500126 G . Likely pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 5.4 1.5 Likely pathogenic 0 -404170 Simple 1060500128 C . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;not specified 2017-01-13 -0.6 1.0 Uncertain significance 0 -404173 Simple 1060500130 T . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-10-31 -0.6 1.0 Uncertain significance 0 -404201 Simple 550691734 G . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-10-06 -0.6 0.0 Uncertain significance 0 -404210 Simple 564806219 G . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-08-04 -0.6 0.5 Uncertain significance 0 -404238 Simple 928224285 T . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-28 -0.6 0.0 Uncertain significance 0 -404268 Simple 779193240 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.5 Uncertain significance 0 -404277 Simple 369871673 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -404279 Simple 375297371 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -404281 Simple 745415005 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -404291 Simple 762028131 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-02-24 -0.6 1.0 Uncertain significance 0 -404301 Simple 1039226542 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-10-27 -0.6 0.5 Uncertain significance 0 -404353 Simple 199646095 A . Uncertain significance 2 2 Neuroblastoma 3;not specified 2017-02-10 -0.6 1.0 Uncertain significance 0 -404358 Simple 368059424 T . Uncertain significance 2 2 Neuroblastoma 3;Hereditary cancer-predisposing syndrome 2017-08-24 -0.6 0.5 Uncertain significance 0 -404363 Simple 200110351 T . Uncertain significance 2 2 Neuroblastoma 3;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.0 Uncertain significance 0 -404380 Simple 55760835 T . Uncertain significance 2 2 Neuroblastoma 3;Hereditary cancer-predisposing syndrome 2017-05-17 -0.6 0.5 Uncertain significance 0 -404412 Simple 745834030 T . Uncertain significance 2 2 Amyloidogenic transthyretin amyloidosis;not specified 2016-11-30 -0.6 1.0 Uncertain significance 0 -404417 Simple 1060500242 T . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -404418 Simple 1060500243 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-23 -0.6 0.0 Uncertain significance 0 -404419 Simple 1060500244 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-22 -0.6 1.0 Uncertain significance 0 -404421 Simple 1060500246 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-09-29 -0.6 0.5 Uncertain significance 0 -404422 Simple 587781428 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.5 Uncertain significance 0 -404435 Simple 1060500256 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-10-26 -0.5700000000000001 1.5 Uncertain significance 0 -404437 Simple 753997885 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -404441 Simple 761109477 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-02 -0.6 0.5 Uncertain significance 0 -404453 Simple 778920556 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-12-05 -0.6 0.5 Uncertain significance 0 -404462 Simple 876658642 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-11 -0.6 0.5 Uncertain significance 0 -404463 Simple 876658349 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-07-18 -0.6 1.0 Uncertain significance 0 -404464 Simple 542824372 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-09-11 -0.6 0.5 Uncertain significance 0 -404467 Simple 1060500278 T . Pathogenic 2 2 Neurofibromatosis, type 1;not provided 2016-12-29 12.0 1.0 Pathogenic/Likely pathogenic 1 -404472 Simple 1060500283 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-10-03 -0.6 1.0 Uncertain significance 0 -404474 Simple 1060500285 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -404477 Simple 747584987 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-19 -0.6 0.5 Uncertain significance 0 -404479 Simple 1060500289 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-30 -0.5700000000000001 1.5 Uncertain significance 0 -404485 Simple 199474750 C . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-09 9.0 1.0 Pathogenic/Likely pathogenic 0 -404489 Simple 1060500296 A . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-08 8.4 1.5 Pathogenic/Likely pathogenic 0 -404490 Simple 754651519 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-27 -0.6 0.5 Uncertain significance 0 -404494 Simple 1060500299 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-17 -0.6 0.5 Uncertain significance 0 -404504 Simple 1060500308 T . Pathogenic 2 2 Neurofibromatosis, type 1;not provided 2017-04-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -404509 Simple 1060500311 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-09 -0.6 1.0 Uncertain significance 0 -404520 Simple 775949348 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.5 Uncertain significance 0 -404522 Simple 755007999 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-09-13 -0.6 1.0 Uncertain significance 0 -404535 Simple 1060500328 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-25 -0.6 0.5 Uncertain significance 0 -404536 Simple 199878086 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-07-02 -0.5700000000000001 1.5 Uncertain significance 0 -404541 Simple 749669269 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-20 -0.6 1.0 Uncertain significance 0 -404552 Simple 1060500341 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-28 -0.6 1.0 Uncertain significance 0 -404554 Simple 1060500342 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-25 -0.5700000000000001 1.5 Uncertain significance 0 -404555 Simple 1060500343 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -404577 Simple 771784652 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-06-30 -0.6 1.0 Uncertain significance 0 -404583 Simple 776447057 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-26 -0.6 1.0 Uncertain significance 0 -404586 Simple 754909198 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-14 -0.6 0.5 Uncertain significance 0 -404591 Simple 1057519370 - . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1 2016-06-16 8.4 1.5 Pathogenic/Likely pathogenic 0 -404592 Simple 376576925 T . Pathogenic 2 2 Neurofibromatosis, type 1;not provided 2017-04-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -404595 Simple 761213794 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-07-05 -0.6 1.0 Uncertain significance 0 -404597 Simple 764079291 T . Pathogenic 2 2 Neurofibromatosis, type 1;not provided 2017-07-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -404599 Simple 1060500376 A . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-12 12.0 1.0 Pathogenic/Likely pathogenic 1 -404609 Simple 56013763 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-10-23 -0.6 0.0 Uncertain significance 0 -404618 Simple 1060500387 - . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-13 10.8 2.0 Pathogenic/Likely pathogenic 1 -404620 Simple 764291252 G . Uncertain significance 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -404732 Simple 757603460 GTATGTAT . Pathogenic/Likely pathogenic 2 7 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9;not provided 2017-04-21 24.0 0.8571428571428571 Pathogenic 1 -404810 Simple 563887822 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-02 -0.6 1.0 Uncertain significance 0 -404845 Simple 1060500470 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-30 -0.6 0.5 Uncertain significance 0 -404846 Simple 776018262 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-30 -0.6 0.5 Uncertain significance 0 -404888 Simple 1060500482 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-02 -0.6 1.0 Uncertain significance 0 -404977 Simple 757016105 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -404981 Simple 143093473 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2016-06-11 -0.5700000000000001 1.5 Uncertain significance 0 -405015 Simple 72648221 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided 2017-03-31 -0.6 0.5 Uncertain significance 0 -405053 Simple 1024262797 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-10-26 -0.6 0.5 Uncertain significance 0 -405065 Simple 376823283 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-12 -0.6 0.5 Uncertain significance 0 -405200 Simple 373951977 A . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.5 Uncertain significance 0 -405201 Simple 763476625 C . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -405210 Simple 748120886 A . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-28 -0.6 0.0 Uncertain significance 0 -405217 Simple 767903815 T . Uncertain significance 2 2 Benign familial neonatal seizures;not specified;Benign familial neonatal seizures 2017-03-22 -0.6 0.5 Uncertain significance 0 -405232 Simple 1060500608 - . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided 2017-04-12 9.0 0.0 Pathogenic/Likely pathogenic 0 -405247 Simple 746877365 T . Pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided 2017-10-23 12.0 0.0 Pathogenic/Likely pathogenic 1 -405297 Simple 146723808 C . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-02-14 -0.6 1.0 Uncertain significance 0 -405304 Simple 369383272 A . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -6.0 0.5 Likely benign 0 -405311 Simple 370293537 G . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.0 Uncertain significance 0 -405318 Simple 377563699 G . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 -0.6 0.0 Uncertain significance 0 -405326 Simple 192491153 A . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.0 Uncertain significance 0 -405370 Simple 772344567 A . Uncertain significance 2 2 Homocystinuria due to CBS deficiency;not specified 2017-08-01 -0.6 0.0 Uncertain significance 0 -405376 Simple 112029370 T . Uncertain significance 2 3 Homocystinuria due to CBS deficiency;not specified 2017-06-02 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -405379 Simple 778528329 G . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-10-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -405381 Simple 774363593 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -405383 Simple 1060500685 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-28 -0.6 0.0 Uncertain significance 0 -405394 Simple 1060500691 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-28 -0.6 0.5 Uncertain significance 0 -405401 Simple 751894165 T . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-02 -0.6 0.0 Uncertain significance 0 -405406 Simple 1060500699 TT . Pathogenic 2 2 Lynch syndrome;not provided 2016-12-21 12.0 1.0 Pathogenic/Likely pathogenic 1 -405407 Simple 373078652 T . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-18 -0.6 0.0 Uncertain significance 0 -405409 Simple 1060500701 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-05 -0.6 0.5 Uncertain significance 0 -405411 Simple 532873141 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-03 -1.2 0.5 Uncertain significance 0 -405413 Simple 750650349 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-05 -0.5700000000000001 1.5 Uncertain significance 0 -405420 Simple 63751283 A . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-03 -0.87 1.3333333333333333 Uncertain significance 0 -405426 Simple 1060500708 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-08 -0.6 0.5 Uncertain significance 0 -405428 Simple 864622530 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-08 -0.6 1.0 Uncertain significance 0 -405430 Simple 1060500710 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -0.6 0.0 Uncertain significance 0 -405442 Simple 782549964 T . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2016-11-26 -0.6 1.0 Uncertain significance 0 -405449 Simple 370202395 T . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not provided 2017-05-31 -0.6 0.5 Uncertain significance 0 -405458 Simple 1060500721 T . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-05-05 -0.6 0.5 Uncertain significance 0 -405472 Simple 201960644 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2016-10-17 -0.6 1.0 Uncertain significance 0 -405480 Simple 768569707 A . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-08-23 -0.6 0.5 Uncertain significance 0 -405490 Simple 1060500733 T . Pathogenic 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-06-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -405491 Simple 1060500734 - . Pathogenic 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-08-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -405500 Simple 1060500742 - . Pathogenic 2 2 Juvenile polyposis syndrome;not provided 2017-05-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -405506 Simple 534355764 T . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -405526 Simple 765654609 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-12-20 -0.6 1.0 Uncertain significance 0 -405527 Simple 755837568 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-05-12 -0.6 0.5 Uncertain significance 0 -405529 Simple 771679592 G . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-10-25 -0.6 1.0 Uncertain significance 0 -405530 Simple 1060500755 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-05-18 -0.6 0.5 Uncertain significance 0 -405538 Simple 763526874 T . Uncertain significance 2 3 Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-11-16 -0.8999999999999999 0.0 Uncertain significance 0 -405539 Simple 895556824 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.5 Uncertain significance 0 -405544 Simple 1060500760 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-12-01 -0.6 0.5 Uncertain significance 0 -405551 Simple 1010091281 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;not specified 2017-10-23 -0.6 0.5 Uncertain significance 0 -405553 Simple 1035958105 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-10-11 -0.6 1.0 Uncertain significance 0 -405572 Simple 948866053 A . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome;Primary progressive multiple sclerosis 2016-08-30 -0.5700000000000001 1.5 Uncertain significance 0 -405575 Simple 745506700 T . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-03-27 -0.6 0.5 Uncertain significance 0 -405583 Simple 373791036 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-10-29 -0.5700000000000001 1.5 Uncertain significance 0 -405585 Simple 878854847 G . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -405586 Simple 751662353 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-06-21 -0.6 1.0 Uncertain significance 0 -405588 Simple 779223088 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -405597 Simple 149777592 A . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-06 -0.87 0.6666666666666666 Uncertain significance 0 -405600 Simple 777695766 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-04-18 -0.6 0.5 Uncertain significance 0 -405606 Simple 959133191 AA . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -405608 Simple 878854847 C . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -405609 Simple 774417192 - . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-11-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -405617 Simple 1060500783 G . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -405623 Simple 770597683 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-12 -0.6 0.5 Uncertain significance 0 -405627 Simple 763031537 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-11-07 -0.6 0.0 Uncertain significance 0 -405642 Simple 201165149 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-12-21 -0.5700000000000001 1.5 Uncertain significance 0 -405645 Simple 1060500792 - . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-08-25 -0.6 1.0 Uncertain significance 0 -405647 Simple 1060500794 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -405650 Simple 770558983 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-30 -0.6 0.5 Uncertain significance 0 -405655 Simple 368363850 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-04-25 -0.6 0.5 Uncertain significance 0 -405656 Simple 755607944 G . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-07-22 -0.5700000000000001 1.5 Uncertain significance 0 -405664 Simple 137860861 G . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.0 Uncertain significance 0 -405675 Simple 147088333 G . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-05-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -405680 Simple 749992643 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-03-30 -0.6 0.5 Uncertain significance 0 -405682 Simple 1060500809 - . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-05-17 -0.6 1.0 Uncertain significance 0 -405684 Simple 1060500810 G . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-12-07 -0.6 1.0 Uncertain significance 0 -405685 Simple 776534749 A . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -405687 Simple 755709875 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-10 -0.5700000000000001 1.0 Uncertain significance 0 -405702 Simple 771823596 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-15 -0.6 0.5 Uncertain significance 0 -405708 Simple 1060500816 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-24 -0.6 0.5 Uncertain significance 0 -405711 Simple 536684123 A . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-30 -0.87 0.6666666666666666 Uncertain significance 0 -405716 Simple 760588718 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-01-06 -0.6 1.0 Uncertain significance 0 -405725 Simple 568483856 C . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -405728 Simple 116260568 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-12 -0.6 0.5 Uncertain significance 0 -405730 Simple 1060500828 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.0 Uncertain significance 0 -405741 Simple 376624527 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-26 -0.6 0.5 Uncertain significance 0 -405748 Simple 753586583 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-02 -0.6 0.5 Uncertain significance 0 -405751 Simple 770470552 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-02-03 -0.6 1.0 Uncertain significance 0 -405752 Simple 532781183 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-01-09 -0.6 1.0 Uncertain significance 0 -405757 Simple 751326135 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-08-20 -0.6 1.0 Uncertain significance 0 -405759 Simple 371149234 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-07-31 -0.8999999999999999 0.0 Uncertain significance 0 -405767 Simple 748807227 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-17 -0.6 0.5 Uncertain significance 0 -405769 Simple 1060500840 G . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-12 -0.6 0.5 Uncertain significance 0 -405774 Simple 115558715 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-05 -0.6 0.0 Uncertain significance 0 -405777 Simple 767060387 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -405778 Simple 754982151 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-10-06 -0.6 1.0 Uncertain significance 0 -405790 Simple 780299012 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.5 Uncertain significance 0 -405803 Simple 531705054 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-23 -0.6 0.5 Uncertain significance 0 -405804 Simple 377461656 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-10-21 -0.6 1.0 Uncertain significance 0 -405811 Simple 374237142 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-21 -0.6 1.0 Uncertain significance 0 -405821 Simple 1060500862 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-12-11 -0.6 1.0 Uncertain significance 0 -405828 Simple 1060500865 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.0 Uncertain significance 0 -405829 Simple 1060500866 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-11-09 -0.6 1.0 Uncertain significance 0 -405832 Simple 374140892 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-04 -0.5700000000000001 1.0 Uncertain significance 0 -405835 Simple 1060500867 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-13 -0.6 0.5 Uncertain significance 0 -405839 Simple 371348453 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-25 -0.6 0.0 Uncertain significance 0 -405843 Simple 755463796 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-05-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -405853 Simple 374800058 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-10 -0.5700000000000001 1.0 Uncertain significance 0 -405877 Simple 150032060 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -405879 Simple 781360770 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.5 Uncertain significance 0 -405883 Simple 1060500883 T . Pathogenic 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2016-12-04 11.4 1.5 Pathogenic/Likely pathogenic 1 -405898 Simple 989886155 A . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12 2017-05-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -405904 Simple 756843283 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2016-12-28 -0.6 1.0 Uncertain significance 0 -405919 Simple 768483509 C . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2016-11-22 -0.6 1.0 Uncertain significance 0 -405929 Simple 779019570 T . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -405930 Simple 368849989 A . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -405936 Simple 139642944 A . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -405939 Simple 750447792 C . Likely pathogenic 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-01-24 6.0 1.0 Likely pathogenic 0 -405951 Simple 558737770 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-11-18 -0.6 1.0 Uncertain significance 0 -405953 Simple 773545852 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-11-20 -0.6 0.5 Uncertain significance 0 -405956 Simple 777529733 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-03-07 -0.5700000000000001 1.0 Uncertain significance 0 -405963 Simple 755368431 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-02-27 -0.6 1.0 Uncertain significance 0 -405964 Simple 78956195 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-11-15 -0.6 1.0 Uncertain significance 0 -405968 Simple 778395191 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-08-25 -0.6 0.5 Uncertain significance 0 -405980 Simple 375809212 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -405982 Simple 752017577 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-01-04 -0.6 1.0 Uncertain significance 0 -405989 Simple 1060500926 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-05 -0.6 0.5 Uncertain significance 0 -405990 Simple 539797467 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-28 -8.7 1.0 Benign/Likely benign 0 -405992 Simple 375574283 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-03-09 -0.6 0.5 Uncertain significance 0 -405993 Simple 1060500928 G . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -0.87 1.0 Uncertain significance 0 -406001 Simple 1060500932 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-04-11 -0.6 1.0 Uncertain significance 0 -406006 Simple 924098595 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.5 Uncertain significance 0 -406008 Simple 147719291 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-09 -0.6 0.5 Uncertain significance 0 -406016 Simple 45517332 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-01-25 -0.6 1.0 Uncertain significance 0 -406017 Simple 142919353 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-12-14 -0.6 1.0 Uncertain significance 0 -406019 Simple 910068556 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-09-27 -0.5700000000000001 1.5 Uncertain significance 0 -406022 Simple 766646261 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-01-12 -0.6 1.0 Uncertain significance 0 -406039 Simple 768864353 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-10-13 -0.6 0.0 Uncertain significance 0 -406045 Simple 1060500946 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-11-08 -0.6 1.0 Uncertain significance 0 -406048 Simple 781630603 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-06-23 -0.6 0.0 Uncertain significance 0 -406069 Simple 773951533 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-07-28 -0.6 1.0 Uncertain significance 0 -406076 Simple 45498892 T . Uncertain significance 2 3 Tuberous sclerosis 2;not provided;Hereditary cancer-predisposing syndrome 2017-08-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -406081 Simple 936484229 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -406082 Simple 140526185 G . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -406090 Simple 1051944517 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.0 Uncertain significance 0 -406094 Simple 45517287 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-03-27 -0.5700000000000001 1.0 Uncertain significance 0 -406105 Simple 773527337 T . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -406107 Simple 137854074 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -406116 Simple 1060500970 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-09-08 -0.6 0.5 Uncertain significance 0 -406125 Simple 544409858 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.0 Uncertain significance 0 -406136 Simple 1060500978 - . Pathogenic/Likely pathogenic 2 2 Charcot-Marie-Tooth disease, type 4A;not provided 2017-07-25 9.0 0.5 Pathogenic/Likely pathogenic 0 -406198 Simple 376655036 C . Uncertain significance 2 2 not specified 2017-10-12 -0.6 0.5 Uncertain significance 0 -406228 Simple 1060501002 A . Pathogenic 2 2 Charcot-Marie-Tooth Neuropathy X;not provided 2017-07-17 12.0 0.5 Pathogenic/Likely pathogenic 1 -406269 Simple 1060501019 C . Likely pathogenic 2 2 Marfan syndrome;not provided 2016-07-15 5.7 1.5 Likely pathogenic 0 -406305 Simple 1060501046 A . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-04-12 -0.6 0.5 Uncertain significance 0 -406346 Simple 1060501074 T . Likely pathogenic 2 2 Marfan syndrome;not provided 2016-05-22 5.4 2.0 Likely pathogenic 0 -406352 Simple 1060501079 G . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-05-24 -0.6 0.5 Uncertain significance 0 -406367 Simple 201156527 G . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-08 -0.6 0.5 Uncertain significance 0 -406377 Simple 141359583 A . Uncertain significance 2 2 Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.0 Uncertain significance 0 -406380 Simple 149016373 A . Uncertain significance 2 2 Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome 2017-08-18 -0.6 0.5 Uncertain significance 0 -406388 Simple 1060501109 T . Pathogenic 2 2 Gorlin syndrome;Medulloblastoma;not provided 2017-06-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -406419 Simple 1064792926 - . Pathogenic/Likely pathogenic 2 2 Brugada syndrome;not provided 2016-11-04 9.0 1.0 Pathogenic/Likely pathogenic 0 -406430 Simple 1060501139 A . Uncertain significance 2 2 Brugada syndrome;not specified 2017-06-08 -0.6 0.5 Uncertain significance 0 -406447 Simple 763550164 T . Uncertain significance 2 2 Brugada syndrome;not specified 2016-12-13 -0.6 1.0 Uncertain significance 0 -406450 Simple 575883763 A . Uncertain significance 2 2 Brugada syndrome;not specified 2017-07-05 -0.6 0.0 Uncertain significance 0 -406472 Simple 764841248 A . Uncertain significance 2 2 Long QT syndrome;not specified 2017-10-20 -0.6 0.5 Uncertain significance 0 -406477 Simple 142302291 G . Uncertain significance 2 2 Long QT syndrome;not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -406520 Simple 375256495 C . Uncertain significance 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2017-11-02 -0.6 0.5 Uncertain significance 0 -406567 Simple 786203117 C . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-12-21 -0.5700000000000001 1.5 Uncertain significance 0 -406568 Simple 1057519984 T . Uncertain significance 2 1 Carcinoma of colon;Li-Fraumeni syndrome 2016-07-16 . 1.0 . 0 -406573 Simple 1060501194 - . Pathogenic 2 2 Li-Fraumeni syndrome;not specified 2017-02-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -406575 Simple 1060501196 G . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-12-13 -0.6 1.0 Uncertain significance 0 -406577 Simple 121912663 C . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-10-10 -0.6 1.0 Uncertain significance 0 -406578 Simple 876660821 T . Pathogenic/Likely pathogenic 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 9.0 0.5 Pathogenic/Likely pathogenic 0 -406587 Simple 751440465 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-05-27 -0.5700000000000001 1.5 Uncertain significance 0 -406592 Simple 1060501203 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-05-09 -0.6 0.0 Uncertain significance 0 -406593 Simple 1060501204 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.5 Uncertain significance 0 -406601 Simple 1060501206 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -0.87 1.3333333333333333 Uncertain significance 0 -406604 Simple 1060501208 A . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-10 -0.8999999999999999 1.0 Uncertain significance 0 -406605 Simple 746601313 C . Uncertain significance 2 4 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -1.2 0.5 Uncertain significance 0 -406609 Simple 1060501211 T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-07-28 -0.6 1.0 Uncertain significance 0 -406616 Simple 1060501215 - . Pathogenic 2 2 Hereditary diffuse gastric cancer;not provided 2017-07-05 12.0 0.0 Pathogenic/Likely pathogenic 1 -406620 Simple 1060501218 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-01-14 -0.6 1.0 Uncertain significance 0 -406622 Simple 587780113 C . Pathogenic 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -406624 Simple . TT . Pathogenic/Likely pathogenic 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-09-14 9.0 0.5 Pathogenic/Likely pathogenic 0 -406628 Simple 1060501224 - . Pathogenic/Likely pathogenic 2 2 Hereditary diffuse gastric cancer 2017-03-24 9.0 0.5 Pathogenic/Likely pathogenic 0 -406634 Simple 878854681 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-18 -0.6 0.5 Uncertain significance 0 -406638 Simple 932491569 C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-11-02 -0.6 1.0 Uncertain significance 0 -406641 Simple 1060501231 C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;not specified 2017-04-26 -0.6 0.5 Uncertain significance 0 -406647 Simple 1060501234 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.5 Uncertain significance 0 -406650 Simple 114265540 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -406654 Simple 571581856 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -0.8999999999999999 1.0 Uncertain significance 0 -406658 Simple 1060501240 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;not specified 2016-09-04 -0.5700000000000001 1.5 Uncertain significance 0 -406659 Simple 1060501241 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-08-12 -0.6 1.0 Uncertain significance 0 -406664 Simple 1060501245 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-08-03 -0.5700000000000001 1.5 Uncertain significance 0 -406665 Simple 143727462 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -406667 Simple 1060501247 A . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -1.2 0.25 Uncertain significance 0 -406670 Simple 121964873 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;not specified 2017-02-17 -0.6 1.0 Uncertain significance 0 -406676 Simple 779648243 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.0 Uncertain significance 0 -406702 Simple 763269347 T . Uncertain significance 2 3 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -406707 Simple 749714198 A . Likely pathogenic 2 3 not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-05-26 9.0 0.6666666666666666 Pathogenic/Likely pathogenic 1 -406708 Simple 1060501262 T . Pathogenic 2 2 not provided;Hereditary cutaneous melanoma 2016-09-20 12.0 1.0 Pathogenic/Likely pathogenic 1 -406714 Simple 104894097 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-10-11 -0.6 0.5 Uncertain significance 0 -406723 Simple 1060501274 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -406730 Simple 1025329798 A . Conflicting interpretations of pathogenicity 1 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-30 -3.6 0.3333333333333333 Uncertain significance 0 -406734 Simple 1060501279 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-31 -0.8999999999999999 0.0 Uncertain significance 0 -406736 Simple 746878509 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2016-10-11 -0.6 1.0 Uncertain significance 0 -406738 Simple 780161956 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-05-10 -0.6 1.0 Uncertain significance 0 -406740 Simple 773918507 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-11-09 -0.8999999999999999 0.0 Uncertain significance 0 -406743 Simple 1060501284 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-24 -0.6 1.0 Uncertain significance 0 -406746 Simple 774251286 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-25 -1.2 0.75 Uncertain significance 0 -406747 Simple 1060501286 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-12 -0.6 1.0 Uncertain significance 0 -406748 Simple 1060501287 - . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;not provided 2016-09-20 9.0 1.0 Pathogenic/Likely pathogenic 0 -406749 Simple 1060501288 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -406750 Simple 1060501289 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-09 -0.6 0.5 Uncertain significance 0 -406754 Simple 771852699 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -406756 Simple 1060501293 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-27 -0.6 1.0 Uncertain significance 0 -406764 Simple 1016845338 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2016-12-27 -0.6 1.0 Uncertain significance 0 -406765 Simple 1036838204 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-01 -0.6 1.0 Uncertain significance 0 -406766 Simple 764592698 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -406767 Simple 753752419 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -406772 Simple 1060501297 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-05 -0.6 0.5 Uncertain significance 0 -406775 Simple 774009993 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -0.87 0.6666666666666666 Uncertain significance 0 -406777 Simple 764746353 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-18 -0.87 1.0 Uncertain significance 0 -406779 Simple 749378135 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -406781 Simple 1060501302 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-25 -0.6 1.0 Uncertain significance 0 -406786 Simple 1060501306 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-10-31 -0.8999999999999999 0.0 Uncertain significance 0 -406789 Simple 1060501308 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-21 -0.6 1.0 Uncertain significance 0 -406822 Simple 745921592 A . Pathogenic 2 4 MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome 2017-01-03 22.8 1.5 Pathogenic 0 -406824 Simple 766420907 A . Pathogenic 2 2 MYH-associated polyposis 2016-09-25 10.8 2.0 Pathogenic/Likely pathogenic 1 -406827 Simple 1060501323 A . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2016-09-15 -0.8999999999999999 1.0 Uncertain significance 0 -406832 Simple 1060501326 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-11-25 -0.6 1.0 Uncertain significance 0 -406837 Simple 1060501330 G . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.0 Uncertain significance 0 -406839 Simple 147487160 T . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -406840 Simple 1060501331 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-10-04 -0.6 1.0 Uncertain significance 0 -406844 Simple 763862261 A . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -406846 Simple 377639760 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-15 -0.6 0.5 Uncertain significance 0 -406848 Simple 1060501337 CA . Uncertain significance 2 2 MYH-associated polyposis;not specified 2016-12-23 -0.6 1.0 Uncertain significance 0 -406849 Simple 201163858 G . Uncertain significance 2 3 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.87 1.0 Uncertain significance 0 -406854 Simple 1060501339 C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-12-02 -0.6 1.0 Uncertain significance 0 -406859 Simple 774237159 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-16 -0.6 0.5 Uncertain significance 0 -406860 Simple 765792042 C . Uncertain significance 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-08-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -406891 Simple 369925690 C . Pathogenic 2 2 Autosomal recessive polycystic kidney disease 2017-05-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -406895 Simple 201094625 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified 2017-09-25 -0.6 0.5 Uncertain significance 0 -407029 Simple 1060501383 GGGGG . Pathogenic 2 2 Baller-Gerold syndrome;not provided 2017-08-09 12.0 0.0 Pathogenic/Likely pathogenic 1 -407054 Simple 148566767 T . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 3;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.0 Uncertain significance 0 -407060 Simple 755235380 G . Pathogenic 2 2 Paragangliomas 3;Hereditary cancer-predisposing syndrome 2017-09-29 12.0 0.0 Pathogenic/Likely pathogenic 1 -407076 Simple 765354113 - . Uncertain significance 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-05-18 -0.6 0.5 Uncertain significance 0 -407085 Simple 764799053 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-04-18 -0.6 0.5 Uncertain significance 0 -407102 Simple 199574440 T . Uncertain significance 2 2 Primary ciliary dyskinesia;not specified 2017-08-21 -0.6 0.5 Uncertain significance 0 -407115 Simple 1060501410 T . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not specified 2017-05-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -407128 Simple 755348996 T . Pathogenic/Likely pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not specified 2017-05-05 9.0 0.0 Pathogenic/Likely pathogenic 0 -407131 Simple 1060501418 C . Pathogenic/Likely pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not specified 2017-04-17 9.0 0.0 Pathogenic/Likely pathogenic 0 -407137 Simple . CC . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not provided 2017-02-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -407169 Simple 1060501434 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-31 -0.6 0.5 Uncertain significance 0 -407267 Simple 10077543 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2016-12-13 -0.6 1.0 Uncertain significance 0 -407315 Simple 755653624 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-08 -0.6 0.5 Uncertain significance 0 -407333 Simple 730880698 T . Pathogenic 2 2 not provided;Hypertrophic cardiomyopathy 2017-03-14 12.0 0.5 Pathogenic/Likely pathogenic 1 -407448 Simple 1060501524 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -0.6 0.0 Uncertain significance 0 -407464 Simple 1060501536 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-07-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -407465 Simple 1060501537 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-27 -0.6 1.0 Uncertain significance 0 -407475 Simple 565622131 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407478 Simple 1060501547 - . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2016-12-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -407485 Simple 1060501554 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-08 -0.6 0.5 Uncertain significance 0 -407488 Simple 1060501557 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-12 -1.2 0.75 Uncertain significance 0 -407490 Simple 1027959208 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407493 Simple 1060501560 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-08 -0.6 1.0 Uncertain significance 0 -407499 Simple 763457172 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -407501 Simple 1060501565 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -0.6 0.5 Uncertain significance 0 -407502 Simple 1060501566 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-08-16 -0.6 1.0 Uncertain significance 0 -407504 Simple 1060501568 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-11 -0.6 1.0 Uncertain significance 0 -407510 Simple 1060501571 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-14 -0.6 1.0 Uncertain significance 0 -407512 Simple 768305533 C . Conflicting interpretations of pathogenicity 1 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -3.6 0.3333333333333333 Uncertain significance 0 -407514 Simple 758843096 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-13 -0.6 1.0 Uncertain significance 0 -407519 Simple 1060501576 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-12 -0.6 0.5 Uncertain significance 0 -407523 Simple 770590652 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-07-22 -0.6 1.0 Uncertain significance 0 -407525 Simple 1060501580 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-12 12.0 1.0 Pathogenic/Likely pathogenic 1 -407528 Simple 1060501583 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-28 -0.6 1.0 Uncertain significance 0 -407530 Simple 200899512 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-23 -0.87 1.3333333333333333 Uncertain significance 0 -407532 Simple 1064792939 TGTTTG . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-04-09 -0.5700000000000001 1.5 Uncertain significance 0 -407536 Simple 1060501588 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.87 1.0 Uncertain significance 0 -407540 Simple 1060501590 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -0.8999999999999999 1.0 Uncertain significance 0 -407541 Simple 766226370 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407546 Simple 779145081 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-02 -0.8999999999999999 1.0 Uncertain significance 0 -407547 Simple 756898113 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-05-12 -0.5700000000000001 1.0 Uncertain significance 0 -407548 Simple 754181173 T . Uncertain significance 2 5 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-05 -1.5 0.4 Uncertain significance 0 -407549 Simple 1060501594 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407555 Simple 1060501598 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-07-22 -0.5700000000000001 1.5 Uncertain significance 0 -407556 Simple 1060501599 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-02 12.0 0.0 Pathogenic/Likely pathogenic 1 -407560 Simple 1060501603 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-08-31 -0.6 1.0 Uncertain significance 0 -407565 Simple 1060501605 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -0.8999999999999999 1.0 Uncertain significance 0 -407566 Simple 377349886 C . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.2 0.5 Uncertain significance 0 -407567 Simple 730881367 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-10-10 -0.6 1.0 Uncertain significance 0 -407577 Simple 1060501613 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-08 -0.6 1.0 Uncertain significance 0 -407579 Simple 199875915 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-11-22 -0.6 0.0 Uncertain significance 0 -407583 Simple 1060501616 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-01-05 -0.6 1.0 Uncertain significance 0 -407587 Simple 1060501618 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-13 -0.6 1.0 Uncertain significance 0 -407590 Simple 761625350 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-17 -0.6 0.5 Uncertain significance 0 -407591 Simple 766034066 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -407595 Simple 1060501622 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-18 -0.6 0.5 Uncertain significance 0 -407607 Simple 975721205 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-14 -0.6 1.0 Uncertain significance 0 -407612 Simple 563482577 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.5 Uncertain significance 0 -407613 Simple 1060501634 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-12 -0.8999999999999999 1.0 Uncertain significance 0 -407615 Simple 778233602 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.5 Uncertain significance 0 -407619 Simple 898091069 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-27 -0.6 0.5 Uncertain significance 0 -407621 Simple 786203311 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-07 -0.87 1.0 Uncertain significance 0 -407624 Simple 747079458 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-11 -0.8999999999999999 1.0 Uncertain significance 0 -407625 Simple 1060501639 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-12-15 -0.6 1.0 Uncertain significance 0 -407626 Simple 772621438 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-12-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407631 Simple 756197350 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407635 Simple 1060501644 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407638 Simple 1060501646 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-04 -0.6 1.0 Uncertain significance 0 -407641 Simple 766951228 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-04 -0.87 1.0 Uncertain significance 0 -407645 Simple 1060501650 A . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-16 12.0 0.0 Pathogenic/Likely pathogenic 1 -407647 Simple 1060501652 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.5 Uncertain significance 0 -407648 Simple 1060501653 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-05-12 -0.6 1.0 Uncertain significance 0 -407649 Simple 1060501654 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407654 Simple 1060501657 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-11 12.0 1.0 Pathogenic/Likely pathogenic 1 -407664 Simple 369349023 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-12-21 -0.6 1.0 Uncertain significance 0 -407669 Simple 1060501668 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407670 Simple 554805703 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-07 -0.87 0.6666666666666666 Uncertain significance 0 -407676 Simple 1060501674 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-08-19 -0.6 1.0 Uncertain significance 0 -407678 Simple 769338089 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407679 Simple 1060501676 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-24 12.0 1.0 Pathogenic/Likely pathogenic 1 -407680 Simple 1060501677 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -407683 Simple 149911447 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-28 -0.8999999999999999 0.0 Uncertain significance 0 -407684 Simple 1060501678 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-11-10 -0.6 0.5 Uncertain significance 0 -407686 Simple 1060501680 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -407687 Simple 762018538 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407689 Simple 770377706 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407690 Simple 1060501682 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407692 Simple 1060501683 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-02 -0.6 1.0 Uncertain significance 0 -407693 Simple 766053182 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407695 Simple 754245181 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-02 -0.6 0.5 Uncertain significance 0 -407697 Simple 1060501685 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-12 -0.6 1.0 Uncertain significance 0 -407698 Simple 1060501686 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -407699 Simple 1060501687 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-02-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -407700 Simple 876659401 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-24 -0.5700000000000001 1.5 Uncertain significance 0 -407707 Simple 1060501692 A . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -407708 Simple 1060501693 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-06-06 -0.6 0.5 Uncertain significance 0 -407709 Simple 1060501694 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-29 -1.17 0.75 Uncertain significance 0 -407710 Simple 1060501695 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407713 Simple 1060501697 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-15 -0.6 1.0 Uncertain significance 0 -407714 Simple 1060501698 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2016-11-09 -0.5700000000000001 1.5 Uncertain significance 0 -407718 Simple 1060501700 C . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-01-25 6.0 1.0 Likely pathogenic 0 -407721 Simple 1060501701 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -407724 Simple 1060501703 G . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 6.0 0.5 Likely pathogenic 0 -407734 Simple 1060501711 A . Pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-04 16.8 1.3333333333333333 Pathogenic 0 -407738 Simple 1060501713 C . Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-26 6.0 1.0 Likely pathogenic 0 -407745 Simple 151303346 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-03-13 -0.6 0.5 Uncertain significance 0 -407784 Simple 61751578 C . Uncertain significance 2 2 Fanconi anemia;not provided 2017-06-30 -0.6 0.5 Uncertain significance 0 -407787 Simple 778275257 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407789 Simple . GG . Pathogenic 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -407796 Simple 1060501731 - . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-06-21 -0.5700000000000001 1.5 Uncertain significance 0 -407800 Simple 1060501734 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-09-13 -0.6 1.0 Uncertain significance 0 -407801 Simple 1060501735 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-01-23 -0.6 1.0 Uncertain significance 0 -407805 Simple 945661395 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-10-25 -0.6 1.0 Uncertain significance 0 -407810 Simple 765545033 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2017-05-23 -0.6 0.5 Uncertain significance 0 -407812 Simple 749920386 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-06-10 -0.6 1.0 Uncertain significance 0 -407817 Simple 1060501745 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-08-19 -0.6 1.0 Uncertain significance 0 -407818 Simple 752780954 AA . Pathogenic 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-03 12.0 1.0 Pathogenic/Likely pathogenic 1 -407824 Simple 754242563 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407835 Simple 755796609 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407837 Simple 777618772 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-11 -0.6 0.5 Uncertain significance 0 -407842 Simple 772570870 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-11-17 -0.6 1.0 Uncertain significance 0 -407844 Simple 763222019 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -407850 Simple 45572934 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -407864 Simple 996493095 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-10-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407867 Simple 916937983 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-27 -0.6 0.0 Uncertain significance 0 -407868 Simple 759142191 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-08-09 -0.8999999999999999 0.0 Uncertain significance 0 -407871 Simple 876661115 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-11-18 -0.6 1.0 Uncertain significance 0 -407875 Simple 781102464 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407877 Simple 768065626 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -407880 Simple 1060501783 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.5 Uncertain significance 0 -407881 Simple 1028566396 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-09 -0.5700000000000001 1.5 Uncertain significance 0 -407882 Simple 201153937 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-07-17 -0.6 1.0 Uncertain significance 0 -407884 Simple 377584386 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-11-29 -0.6 1.0 Uncertain significance 0 -407886 Simple 776688385 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.5 Uncertain significance 0 -407928 Simple 147492092 A . Uncertain significance 2 2 Fanconi anemia;not specified 2016-11-08 -0.6 1.0 Uncertain significance 0 -407935 Simple 149126845 C . Uncertain significance 2 2 Fanconi anemia;not specified 2017-08-22 -0.6 0.0 Uncertain significance 0 -407951 Simple 777944185 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-14 -0.6 0.5 Uncertain significance 0 -407953 Simple 762670703 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407965 Simple 558345043 G . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-05-20 -0.6 1.0 Uncertain significance 0 -407966 Simple 376946722 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-11-08 -0.6 0.0 Uncertain significance 0 -407968 Simple 775310798 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-28 -0.6 0.5 Uncertain significance 0 -407969 Simple 146344351 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-31 -0.6 0.0 Uncertain significance 0 -407975 Simple 1060501808 C . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -407980 Simple 1060501811 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2016-09-26 -0.6 1.0 Uncertain significance 0 -407981 Simple 200736325 A . Uncertain significance 2 3 Colorectal cancer 10;not specified 2017-08-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -407984 Simple 1060501812 - . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.5 Uncertain significance 0 -407990 Simple 768048535 T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-12-19 -0.6 1.0 Uncertain significance 0 -407991 Simple 1060501815 C . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-10-23 -0.6 0.0 Uncertain significance 0 -407993 Simple 763465385 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2016-12-13 -0.6 1.0 Uncertain significance 0 -407998 Simple 772197667 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-14 -0.6 0.0 Uncertain significance 0 -408000 Simple 1060501819 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-12-04 -0.5700000000000001 1.5 Uncertain significance 0 -408003 Simple 779735891 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2016-12-16 -0.6 1.0 Uncertain significance 0 -408004 Simple 143340270 G . Uncertain significance 2 2 Colorectal cancer 10;not specified 2016-09-16 -0.6 1.0 Uncertain significance 0 -408010 Simple 1060501821 TT . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-16 -0.6 0.5 Uncertain significance 0 -408011 Simple 897259743 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-11 -0.6 0.5 Uncertain significance 0 -408012 Simple 750085275 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -408013 Simple 371120096 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -408015 Simple 753244422 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -408020 Simple 767518281 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2016-06-10 -0.6 1.0 Uncertain significance 0 -408024 Simple 2230243 T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-27 -0.6 0.0 Uncertain significance 0 -408026 Simple 146530638 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-05-09 -0.6 0.0 Uncertain significance 0 -408030 Simple 773180520 A . Uncertain significance 2 3 Colorectal cancer 10;not specified 2017-06-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -408032 Simple 762330164 T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-18 -0.6 0.5 Uncertain significance 0 -408038 Simple 750260438 C . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-08-01 -0.6 0.5 Uncertain significance 0 -408039 Simple 556862476 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -408041 Simple 144111108 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-08 -0.6 0.5 Uncertain significance 0 -408049 Simple 199792522 G . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-05-12 -0.6 0.5 Uncertain significance 0 -408055 Simple 1060501834 - . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-08-21 -0.6 0.0 Uncertain significance 0 -408059 Simple 373046355 T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-11-04 -0.6 1.0 Uncertain significance 0 -408060 Simple 1064792946 . . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-06-21 -0.6 1.0 Uncertain significance 0 -408062 Simple 750155990 T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-14 -0.6 0.5 Uncertain significance 0 -408065 Simple 1004191319 G . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -0.8999999999999999 0.0 Uncertain significance 0 -408069 Simple 376197467 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-09-10 -0.6 0.0 Uncertain significance 0 -408070 Simple 530091118 T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -408073 Simple 1060501840 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.0 Uncertain significance 0 -408078 Simple 986822818 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-08-02 -0.6 0.5 Uncertain significance 0 -408086 Simple 1038164521 G . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -408095 Simple 1060501849 - . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-11 -0.6 0.5 Uncertain significance 0 -408099 Simple 538267691 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-05-18 -0.6 0.5 Uncertain significance 0 -408108 Simple 749159160 C . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-21 -0.6 0.5 Uncertain significance 0 -408113 Simple 201010746 T . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -408117 Simple 547831370 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-01 -0.6 0.5 Uncertain significance 0 -408118 Simple 765981178 T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -408119 Simple 779208942 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-05-12 -0.6 0.5 Uncertain significance 0 -408171 Simple 143671872 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-02-03 -0.6 1.0 Uncertain significance 0 -408247 Simple 769248873 A . Pathogenic 2 2 Fanconi anemia;Fanconi anemia, complementation group I 2017-03-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -408269 Simple 150784835 A . Uncertain significance 2 2 not specified;Charcot-Marie-Tooth disease type 2P 2017-06-16 -0.6 0.0 Uncertain significance 0 -408279 Simple 758412337 C . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-02 -0.6 0.5 Uncertain significance 0 -408280 Simple 142814184 C . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-10-02 -0.6 0.5 Uncertain significance 0 -408320 Simple 761216583 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-02-24 -0.6 1.0 Uncertain significance 0 -408337 Simple 770086242 G . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.0 Uncertain significance 0 -408338 Simple 772689692 G . Uncertain significance 2 2 not specified;Hereditary cutaneous melanoma 2017-05-16 -0.54 1.5 Uncertain significance 0 -408339 Simple 1060501931 A . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-03-07 -0.6 0.5 Uncertain significance 0 -408341 Simple 983751245 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-20 -0.6 1.0 Uncertain significance 0 -408346 Simple 374624870 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-09-22 -0.6 1.0 Uncertain significance 0 -408349 Simple 773142865 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.5 Uncertain significance 0 -408353 Simple 1060501939 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-06 -0.6 1.0 Uncertain significance 0 -408355 Simple 1060501941 - . Pathogenic/Likely pathogenic 2 3 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-03-22 15.0 0.6666666666666666 Pathogenic 1 -408356 Simple 1060501942 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-04-25 12.0 0.5 Pathogenic/Likely pathogenic 1 -408358 Simple 1060501944 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-07-21 -0.5700000000000001 1.5 Uncertain significance 0 -408359 Simple 771068208 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-03-27 -0.6 0.5 Uncertain significance 0 -408361 Simple 953579261 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-03 -0.6 1.0 Uncertain significance 0 -408362 Simple 1060501946 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -408365 Simple 557802139 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-22 -0.6 1.0 Uncertain significance 0 -408366 Simple 762093973 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-19 -0.6 1.0 Uncertain significance 0 -408368 Simple 1060501949 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-06-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -408373 Simple 1060501954 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-07-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -408374 Simple 746841895 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-05 -0.6 1.0 Uncertain significance 0 -408381 Simple 1060501957 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-29 -0.6 1.0 Uncertain significance 0 -408382 Simple 765290694 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-25 -0.6 0.5 Uncertain significance 0 -408384 Simple 1060501958 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-07-15 -0.5700000000000001 1.5 Uncertain significance 0 -408387 Simple 767424884 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.5 Uncertain significance 0 -408389 Simple 28903087 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-12-24 -0.6 1.0 Uncertain significance 0 -408390 Simple 777333852 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.0 Uncertain significance 0 -408392 Simple 893327360 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-10-05 -0.6 1.0 Uncertain significance 0 -408393 Simple 1010374593 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-16 -0.6 0.5 Uncertain significance 0 -408395 Simple 587781454 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2016-04-09 11.4 1.5 Pathogenic/Likely pathogenic 1 -408396 Simple 1064792949 - . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-05-31 6.0 0.5 Likely pathogenic 0 -408397 Simple 1060501963 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-18 -0.6 0.5 Uncertain significance 0 -408398 Simple 545546432 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -408399 Simple 1060501964 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-07 -0.6 0.5 Uncertain significance 0 -408402 Simple 766315644 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-03-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -408404 Simple 760464509 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.5 Uncertain significance 0 -408408 Simple 1060501969 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2016-09-05 -0.6 1.0 Uncertain significance 0 -408416 Simple 1060501975 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-24 -0.6 0.5 Uncertain significance 0 -408419 Simple 772155267 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-11-22 -0.6 0.5 Uncertain significance 0 -408423 Simple 181961360 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -408424 Simple 747603489 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-03 -0.6 0.0 Uncertain significance 0 -408434 Simple 375330013 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-10-05 -0.6 0.0 Uncertain significance 0 -408439 Simple 368346624 A . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-03-15 -0.6 0.5 Uncertain significance 0 -408456 Simple 1060501992 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-08 -0.6 0.5 Uncertain significance 0 -408458 Simple 138857091 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-28 -0.8999999999999999 0.0 Uncertain significance 0 -408460 Simple 773125415 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-05-07 -0.5700000000000001 1.5 Uncertain significance 0 -408461 Simple 12476364 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-03 12.0 0.0 Pathogenic/Likely pathogenic 1 -408464 Simple 876658582 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.5 Uncertain significance 0 -408474 Simple 587781996 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -408475 Simple 775464903 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -408481 Simple 530071578 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-22 -0.6 0.5 Uncertain significance 0 -408482 Simple 376990143 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-06 -0.6 0.5 Uncertain significance 0 -408488 Simple 753067992 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -408497 Simple 876659906 A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -408499 Simple 750084297 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -408504 Simple 786202083 A . Pathogenic 2 3 not provided;Hereditary nonpolyposis colon cancer 2017-03-20 17.4 1.0 Pathogenic 0 -408505 Simple 774132884 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-23 -0.6 0.0 Uncertain significance 0 -408509 Simple 1060502015 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-08-19 -0.6 0.5 Uncertain significance 0 -408512 Simple 587779093 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-12 -0.6 1.0 Uncertain significance 0 -408516 Simple 17217716 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-03 -0.5700000000000001 1.5 Uncertain significance 0 -408519 Simple 748427458 G . Uncertain significance 2 2 Lynch syndrome;not specified 2017-02-22 -0.6 1.0 Uncertain significance 0 -408520 Simple 544265737 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-25 -0.5700000000000001 1.5 Uncertain significance 0 -408521 Simple 372189599 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-10 -0.6 0.5 Uncertain significance 0 -408524 Simple 63750508 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-07-26 -0.8999999999999999 1.0 Uncertain significance 0 -408527 Simple 1060502021 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -0.6 0.5 Uncertain significance 0 -408530 Simple 63750951 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-16 -0.6 1.0 Uncertain significance 0 -408532 Simple 1060502023 C . Pathogenic/Likely pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-04-30 6.6 3.0 Likely pathogenic 1 -408535 Simple 766196837 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-22 -1.2 0.5 Uncertain significance 0 -408536 Simple 1060502025 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-12 -0.6 0.0 Uncertain significance 0 -408539 Simple 754778750 C . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-11-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -408540 Simple 754533481 A . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-10 -0.87 1.0 Uncertain significance 0 -408544 Simple 372383829 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-05 -0.6 0.5 Uncertain significance 0 -408555 Simple 1060502037 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-09 -0.5700000000000001 1.5 Uncertain significance 0 -408556 Simple 778573140 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-06 -0.6 1.0 Uncertain significance 0 -408558 Simple 753237286 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-11 -0.6 1.0 Uncertain significance 0 -408598 Simple 1060502057 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-19 -0.6 0.5 Uncertain significance 0 -408601 Simple 569715577 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.0 Uncertain significance 0 -408602 Simple 1060502059 C . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-14 -0.6 0.0 Uncertain significance 0 -408603 Simple 769096295 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-11-21 -0.6 0.0 Uncertain significance 0 -408608 Simple 749029481 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-15 -0.6 1.0 Uncertain significance 0 -408611 Simple 747463080 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-10 -0.6 1.0 Uncertain significance 0 -408613 Simple 373590049 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -408619 Simple 1060502069 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-12-23 -0.6 1.0 Uncertain significance 0 -408620 Simple 377119410 T . Uncertain significance 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -408621 Simple 199573401 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-08 -0.6 1.0 Uncertain significance 0 -408622 Simple . CA . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-27 -0.6 0.0 Uncertain significance 0 -408623 Simple 372601826 TGGCCCTGGCCC . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-18 -0.6 0.0 Uncertain significance 0 -408624 Simple 1060502070 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-12-21 -0.6 1.0 Uncertain significance 0 -408627 Simple 1060502073 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-27 -0.6 1.0 Uncertain significance 0 -408630 Simple 1060502074 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-11-07 -0.6 0.5 Uncertain significance 0 -408631 Simple 756255060 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-01 -0.6 1.0 Uncertain significance 0 -408632 Simple 755519197 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.5 Uncertain significance 0 -408635 Simple 769555654 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.5 Uncertain significance 0 -408638 Simple 776222414 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-15 -0.6 1.0 Uncertain significance 0 -408639 Simple 910095001 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-31 -0.6 0.0 Uncertain significance 0 -408641 Simple 769414440 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -408644 Simple 1060502081 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -408648 Simple 1060502082 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.0 Uncertain significance 0 -408649 Simple 927543047 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-07-11 -0.6 1.0 Uncertain significance 0 -408651 Simple 372893370 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-25 -0.6 0.0 Uncertain significance 0 -408652 Simple 1060502084 - . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-20 -0.6 0.5 Uncertain significance 0 -408659 Simple 545634451 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-27 -0.6 0.5 Uncertain significance 0 -408660 Simple 145749221 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.0 Uncertain significance 0 -408664 Simple 749533909 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-10-25 -0.6 0.0 Uncertain significance 0 -408667 Simple 1060502092 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-07-21 -0.6 1.0 Uncertain significance 0 -408669 Simple 758091260 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-25 -0.6 1.0 Uncertain significance 0 -408672 Simple 766474711 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-17 -0.6 1.0 Uncertain significance 0 -408675 Simple 1060502095 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-12-20 -0.6 1.0 Uncertain significance 0 -408677 Simple 769096295 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-07-15 -0.6 1.0 Uncertain significance 0 -408678 Simple 777628688 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.0 Uncertain significance 0 -408680 Simple 777647740 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-22 -0.6 1.0 Uncertain significance 0 -408682 Simple 1060502098 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-08-01 -0.6 1.0 Uncertain significance 0 -408689 Simple 142886157 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-16 -0.6 0.5 Uncertain significance 0 -408692 Simple 757896781 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-08-17 -0.6 1.0 Uncertain significance 0 -408694 Simple 760654888 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-19 -0.6 0.5 Uncertain significance 0 -408695 Simple 746036083 C . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-14 -0.6 1.0 Uncertain significance 0 -408697 Simple 772153816 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.5 Uncertain significance 0 -408699 Simple 1060502101 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-12-09 -0.6 1.0 Uncertain significance 0 -408700 Simple 371562008 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-22 -0.6 1.0 Uncertain significance 0 -408701 Simple 774511507 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.0 Uncertain significance 0 -408703 Simple 757412819 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.0 Uncertain significance 0 -408707 Simple 371056395 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.5 Uncertain significance 0 -408708 Simple 1060502103 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-31 -0.6 0.5 Uncertain significance 0 -408709 Simple 768328175 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-27 -0.6 0.5 Uncertain significance 0 -408710 Simple 764312409 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.0 Uncertain significance 0 -408713 Simple 766176476 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.5 Uncertain significance 0 -408714 Simple 377743250 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.0 Uncertain significance 0 -408715 Simple 1060502105 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-29 -0.6 1.0 Uncertain significance 0 -408736 Simple 201097255 T . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-03-01 -0.6 1.0 Uncertain significance 0 -408739 Simple 202040879 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-05-05 -0.6 0.5 Uncertain significance 0 -408768 Simple 754506970 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-26 -0.6 0.0 Uncertain significance 0 -408772 Simple 755990979 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-21 -0.6 0.0 Uncertain significance 0 -408773 Simple 748860876 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-02-03 -0.6 1.0 Uncertain significance 0 -408801 Simple 137933764 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-08-07 -0.6 0.0 Uncertain significance 0 -408803 Simple 147716924 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-06-09 -0.6 0.0 Uncertain significance 0 -408812 Simple 763012548 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-12-21 -0.6 1.0 Uncertain significance 0 -408817 Simple 1025003994 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-01-10 -0.6 1.0 Uncertain significance 0 -408825 Simple 759355821 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-17 -0.6 0.5 Uncertain significance 0 -408827 Simple 746819327 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -408833 Simple 370618491 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-04-04 -0.6 0.5 Uncertain significance 0 -408839 Simple 753036084 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-06-30 -0.6 0.5 Uncertain significance 0 -408842 Simple 951973598 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2016-12-26 -0.6 1.0 Uncertain significance 0 -408850 Simple 770763142 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-09 -0.6 0.5 Uncertain significance 0 -408857 Simple 1060502160 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-03-15 -0.6 0.5 Uncertain significance 0 -408874 Simple 115353159 C . Uncertain significance 2 2 not specified;Atrial fibrillation, familial, 14 2017-04-13 -0.6 0.5 Uncertain significance 0 -408917 Simple 72700613 G . Uncertain significance 2 2 not specified;Spastic paraplegia 49, autosomal recessive 2017-06-15 -0.6 0.0 Uncertain significance 0 -408951 Simple 745419923 A . Uncertain significance 2 2 Dilated cardiomyopathy 1W;not specified 2017-06-21 -0.6 0.5 Uncertain significance 0 -408980 Simple 765613848 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-06-26 -0.6 0.5 Uncertain significance 0 -408986 Simple 759829161 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-02-27 -0.6 1.0 Uncertain significance 0 -409030 Simple 1060502226 A . Pathogenic 2 2 Spastic paraplegia 4, autosomal dominant;not provided 2017-05-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -409031 Simple 1060502227 G . Pathogenic 2 2 Spastic paraplegia 4, autosomal dominant;not provided 2017-05-02 12.0 0.5 Pathogenic/Likely pathogenic 1 -409035 Simple 1060502231 T . Uncertain significance 2 2 Spastic paraplegia 4, autosomal dominant;not specified 2017-03-28 -0.6 0.5 Uncertain significance 0 -409039 Simple 368011392 T . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-09-21 -0.6 0.0 Uncertain significance 0 -409105 Simple 774849517 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-03-16 -0.6 0.5 Uncertain significance 0 -409111 Simple 754773665 C . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-02-10 -0.6 1.0 Uncertain significance 0 -409115 Simple 1060502260 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-08-23 -0.6 0.5 Uncertain significance 0 -409150 Simple 1060502273 - . Pathogenic 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2016-07-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -409162 Simple 766313615 A . Pathogenic 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2016-07-10 11.4 1.5 Pathogenic/Likely pathogenic 1 -409170 Simple 1060502281 T . Pathogenic 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2016-10-24 11.4 1.5 Pathogenic/Likely pathogenic 1 -409171 Simple 751511116 A . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-03-06 -0.6 0.5 Uncertain significance 0 -409182 Simple 772537644 A . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-05-01 -0.6 0.5 Uncertain significance 0 -409193 Simple 1060502292 - . Pathogenic 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2016-12-19 10.8 2.0 Pathogenic/Likely pathogenic 1 -409197 Simple 1060502293 A . Uncertain significance 2 2 Gorlin syndrome;not specified 2017-02-28 -0.6 1.0 Uncertain significance 0 -409213 Simple 747128318 A . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -409220 Simple 1060502301 T . Pathogenic 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2016-07-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -409237 Simple 141983717 T . Uncertain significance 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-06-26 -0.6 0.0 Uncertain significance 0 -409245 Simple 144563810 A . Uncertain significance 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-06-06 -0.6 0.5 Uncertain significance 0 -409246 Simple 899079673 C . Uncertain significance 2 2 not provided;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2016-09-30 -0.6 1.0 Uncertain significance 0 -409258 Simple 1060502316 G . Uncertain significance 2 2 Long QT syndrome;not specified 2017-08-04 -0.6 0.5 Uncertain significance 0 -409274 Simple 11842935 C . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-06-02 -0.6 0.0 Uncertain significance 0 -409275 Simple 1060502320 G . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-10-14 -0.6 1.0 Uncertain significance 0 -409292 Simple 200210023 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2C;not specified 2016-11-23 -0.6 1.0 Uncertain significance 0 -409301 Simple 1060502326 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.5 Uncertain significance 0 -409309 Simple 1060502332 TT . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2017-06-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -409312 Simple 1800757 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-10-05 -0.6 1.0 Uncertain significance 0 -409315 Simple 201596327 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.0 Uncertain significance 0 -409318 Simple 775339017 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -409328 Simple 1060502341 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-16 -0.6 1.0 Uncertain significance 0 -409330 Simple 587778115 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-03-15 -0.6 0.5 Uncertain significance 0 -409337 Simple 141465583 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-31 -0.87 1.0 Uncertain significance 0 -409340 Simple 1060502346 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -409342 Simple 377629427 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-06-29 -0.6 1.0 Uncertain significance 0 -409343 Simple 759417413 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-11-03 -0.87 0.6666666666666666 Uncertain significance 0 -409348 Simple 1060502350 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-08-24 -0.54 2.0 Uncertain significance 0 -409349 Simple 1060502351 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-06-30 -0.6 1.0 Uncertain significance 0 -409351 Simple 8176139 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified 2017-01-02 -0.8999999999999999 1.0 Uncertain significance 0 -409357 Simple 1060502357 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -409376 Simple 376715412 T . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-11-13 -0.6 0.5 Uncertain significance 0 -409378 Simple 1060502368 - . Pathogenic 2 3 Multiple fibrofolliculomas;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 18.0 0.3333333333333333 Pathogenic 0 -409379 Simple 898441209 T . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2016-07-01 -0.54 2.0 Uncertain significance 0 -409380 Simple 770077517 G . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.5 Uncertain significance 0 -409383 Simple 141250189 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-07 -6.0 0.5 Likely benign 0 -409385 Simple 1064792959 CTGAT . Pathogenic 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2016-10-12 11.4 1.5 Pathogenic/Likely pathogenic 1 -409392 Simple 200660337 A . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2016-12-15 -0.6 1.0 Uncertain significance 0 -409394 Simple 768734584 A . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -409395 Simple 370353839 C . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.0 Uncertain significance 0 -409407 Simple 878855218 A . Pathogenic/Likely pathogenic 2 2 Multiple fibrofolliculomas;not provided 2016-11-06 8.4 1.5 Pathogenic/Likely pathogenic 0 -409409 Simple 554247745 T . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.5 Uncertain significance 0 -409417 Simple 1060502380 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-30 -0.6 0.5 Uncertain significance 0 -409418 Simple 1060502381 - . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -409423 Simple 1060502384 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-16 -0.6 1.0 Uncertain significance 0 -409427 Simple 1060502387 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -3.5999999999999996 0.5 Uncertain significance 2 -409429 Simple 56371528 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -409430 Simple 1060502388 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.5 Uncertain significance 0 -409432 Simple 1060502390 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-05-12 -0.6 1.0 Uncertain significance 0 -409437 Simple 1060502393 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-29 -0.6 1.0 Uncertain significance 0 -409439 Simple . TT . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome 2016-07-12 10.2 2.5 Pathogenic/Likely pathogenic 1 -409443 Simple 966152147 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-10-24 -0.8999999999999999 1.0 Uncertain significance 0 -409447 Simple 763486267 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-28 -0.6 1.0 Uncertain significance 0 -409448 Simple 1060502399 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-01-30 -0.6 1.0 Uncertain significance 0 -409451 Simple 757821270 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-08-03 -0.54 2.0 Uncertain significance 0 -409454 Simple 1060502403 - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome 2017-02-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -409455 Simple 80359130 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-07-16 -0.6 1.0 Uncertain significance 0 -409456 Simple 1060502404 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-09-19 -0.5700000000000001 1.5 Uncertain significance 0 -409458 Simple 587782713 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-04-17 -0.6 0.5 Uncertain significance 0 -409465 Simple 1060502411 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -0.8999999999999999 1.0 Uncertain significance 0 -409467 Simple 1060502413 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-10-31 -0.5700000000000001 1.5 Uncertain significance 0 -409471 Simple 1060502415 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-21 -0.6 1.0 Uncertain significance 0 -409474 Simple 778281493 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -409478 Simple 1060502420 - . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-24 -0.6 1.0 Uncertain significance 0 -409491 Simple 1060502430 - . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-02 9.0 0.5 Pathogenic/Likely pathogenic 0 -409495 Simple 397507842 C . Pathogenic/Likely pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-21 9.0 1.0 Pathogenic/Likely pathogenic 0 -409496 Simple 1060502433 A . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -409505 Simple 774484160 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-12 -0.6 0.5 Uncertain significance 0 -409517 Simple 535952730 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-20 -0.6 0.5 Uncertain significance 0 -409519 Simple 1060502447 - . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-09 -0.6 1.0 Uncertain significance 0 -409521 Simple 1060502449 T . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-23 12.0 1.0 Pathogenic/Likely pathogenic 1 -409528 Simple 1060502453 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-11-16 -0.5700000000000001 1.5 Uncertain significance 0 -409533 Simple 864622609 A . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -409565 Simple 748609599 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -0.87 1.0 Uncertain significance 0 -409568 Simple 1060502470 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-06-24 -0.5700000000000001 1.5 Uncertain significance 0 -409576 Simple 1060502476 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -0.87 1.0 Uncertain significance 0 -409585 Simple 779194753 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-23 -0.6 1.0 Uncertain significance 0 -409590 Simple 959089047 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-10 -0.6 1.0 Uncertain significance 0 -409597 Simple 1060502489 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -3.5999999999999996 0.5 Uncertain significance 2 -409599 Simple 80358920 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-11-18 -0.8999999999999999 1.0 Uncertain significance 0 -409606 Simple 1060502496 GG . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -1.17 0.75 Uncertain significance 0 -409609 Simple 1060502498 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-17 -0.6 0.5 Uncertain significance 0 -409614 Simple 775762473 C . Uncertain significance 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-02-20 -0.6 1.0 Uncertain significance 0 -409639 Simple 747192078 T . Uncertain significance 2 2 Progressive familial heart block type 1B;Brugada syndrome 2017-05-16 -0.6 0.5 Uncertain significance 0 -409651 Simple 202038890 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-03-28 -0.6 0.5 Uncertain significance 0 -409657 Simple 774170058 TT . Pathogenic 2 2 Fanconi anemia;not provided 2017-08-03 11.4 1.0 Pathogenic/Likely pathogenic 1 -409661 Simple 1060502519 G . Uncertain significance 2 2 Fanconi anemia;not specified 2017-08-07 -0.5700000000000001 1.0 Uncertain significance 0 -409693 Simple 564792567 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-10-05 -0.6 0.5 Uncertain significance 0 -409832 Simple 772344354 C . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -1.2 0.5 Uncertain significance 0 -409837 Simple 28910276 T . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-12-01 -1.2 0.5 Uncertain significance 0 -409839 Simple 1060502586 C . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-07-16 -0.6 1.0 Uncertain significance 0 -409842 Simple 137947462 T . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-10-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -409848 Simple 750381200 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -409849 Simple 771332058 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-06-25 -0.87 1.0 Uncertain significance 0 -409850 Simple 1060502592 G . Uncertain significance 2 4 Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -1.2 0.25 Uncertain significance 0 -409852 Simple 1060502594 T . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-05-17 -0.6 0.5 Uncertain significance 0 -409854 Simple 746571208 A . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-10-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -409856 Simple 1060502597 G . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2016-10-28 -0.6 1.0 Uncertain significance 0 -409857 Simple 1060502598 G . Uncertain significance 2 2 Fanconi anemia, complementation group O;not specified 2016-11-08 -0.5700000000000001 1.5 Uncertain significance 0 -409860 Simple 1060502601 - . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided 2017-03-15 15.0 0.6666666666666666 Pathogenic 1 -409861 Simple 1060502602 C . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-10-19 -0.6 0.5 Uncertain significance 0 -409867 Simple 778157321 G . Conflicting interpretations of pathogenicity 1 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-01-09 -3.6 1.0 Uncertain significance 0 -409879 Simple 377412251 G . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-05-09 -0.6 0.5 Uncertain significance 0 -409899 Simple 1060502629 T . Pathogenic 2 2 Duchenne muscular dystrophy;not provided 2016-12-31 12.0 1.0 Pathogenic/Likely pathogenic 1 -409914 Simple 1060502641 G . Pathogenic 2 2 Duchenne muscular dystrophy;not specified 2016-12-24 12.0 1.0 Pathogenic/Likely pathogenic 1 -409965 Simple 1060502669 C . Uncertain significance 2 2 not specified 2016-04-09 -0.5700000000000001 1.5 Uncertain significance 0 -409968 Simple 3218537 G . Uncertain significance 2 2 not specified 2017-03-03 -0.6 1.0 Uncertain significance 0 -409996 Simple 375024068 G . Uncertain significance 2 2 Spastic paraplegia 39;not specified 2016-12-05 -0.6 1.0 Uncertain significance 0 -409997 Simple 1060502682 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-26 -0.5700000000000001 1.5 Uncertain significance 0 -409999 Simple 1060502684 - . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-09-06 18.0 0.6666666666666666 Pathogenic 0 -410006 Simple 878854915 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-22 -0.6 1.0 Uncertain significance 0 -410008 Simple 1060502688 A . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -410009 Simple 778212685 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.0 Uncertain significance 0 -410011 Simple 769841229 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-18 -0.6 0.5 Uncertain significance 0 -410014 Simple 747797219 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-11-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -410015 Simple 200928781 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.5 Uncertain significance 0 -410020 Simple 748636216 G . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -410023 Simple 527878975 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-16 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -410024 Simple 1060502696 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-11-15 -0.6 0.0 Uncertain significance 0 -410027 Simple 1060502699 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-03 -0.6 1.0 Uncertain significance 0 -410029 Simple 779607427 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-02 -0.6 1.0 Uncertain significance 0 -410030 Simple 199859140 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.87 1.0 Uncertain significance 0 -410033 Simple 1060502702 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.0 Uncertain significance 0 -410044 Simple 773846607 G . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -1.2 0.5 Uncertain significance 0 -410047 Simple 758529351 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-07-20 -0.6 1.0 Uncertain significance 0 -410051 Simple 747797219 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-21 -0.5700000000000001 1.5 Uncertain significance 0 -410054 Simple 1060502714 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-29 -0.6 1.0 Uncertain significance 0 -410056 Simple 1060502716 T . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-06-17 5.7 1.5 Likely pathogenic 0 -410059 Simple 779269031 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-24 -0.6 1.0 Uncertain significance 0 -410060 Simple 1060502719 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-30 -0.6 1.0 Uncertain significance 0 -410062 Simple 753860983 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-03 -0.6 0.5 Uncertain significance 0 -410064 Simple 876659287 G . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-18 6.0 0.5 Likely pathogenic 0 -410065 Simple 1060502720 G . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-02-20 -0.6 1.0 Uncertain significance 0 -410067 Simple 1060502722 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-22 -0.6 1.0 Uncertain significance 0 -410069 Simple 765799649 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-27 -0.87 1.0 Uncertain significance 0 -410079 Simple 1060502725 T . Uncertain significance 2 2 not specified;Spastic paraplegia 2017-04-17 -0.6 0.5 Uncertain significance 0 -410084 Simple 139253468 T . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-08-04 -0.6 0.5 Uncertain significance 0 -410087 Simple 1060502726 T . Pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-08-11 23.4 0.75 Pathogenic 0 -410088 Simple 369907002 A . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-04-27 -0.6 0.5 Uncertain significance 0 -410101 Simple 745665968 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-06 -0.6 1.0 Uncertain significance 0 -410105 Simple 768482110 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.5 Uncertain significance 0 -410106 Simple 1060502733 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-20 -0.6 1.0 Uncertain significance 0 -410107 Simple 765125459 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410109 Simple 746582620 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-12-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410110 Simple 1060502735 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410113 Simple 1060502736 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-04-14 -0.6 1.0 Uncertain significance 0 -410118 Simple 1060502741 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -410122 Simple 761032954 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -1.2 0.5 Uncertain significance 0 -410124 Simple 1060502744 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-11-22 -0.6 0.5 Uncertain significance 0 -410133 Simple 1060502752 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-13 -0.8999999999999999 1.0 Uncertain significance 0 -410137 Simple 1060502754 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -410138 Simple 1060502755 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-25 -0.6 0.0 Uncertain significance 0 -410140 Simple 749078410 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410141 Simple 763191051 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.5 Uncertain significance 0 -410142 Simple 1060502757 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-05-03 -0.5700000000000001 1.5 Uncertain significance 0 -410143 Simple 1060502758 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-16 -0.6 1.0 Uncertain significance 0 -410144 Simple 1060502759 - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-12 12.0 1.0 Pathogenic/Likely pathogenic 1 -410148 Simple 1060502762 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-16 -0.6 1.0 Uncertain significance 0 -410149 Simple 778573607 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-27 -0.6 0.5 Uncertain significance 0 -410151 Simple 545119348 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410156 Simple 45504298 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-07-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410157 Simple . TT . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -410158 Simple 1060502768 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-17 -0.6 1.0 Uncertain significance 0 -410161 Simple 75023630 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-29 -0.6 0.0 Uncertain significance 0 -410162 Simple 142132127 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -1.2 0.75 Uncertain significance 0 -410165 Simple 995629797 T . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-13 12.0 0.0 Pathogenic/Likely pathogenic 1 -410167 Simple 749443090 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -1.17 1.0 Uncertain significance 0 -410177 Simple 759024828 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-15 -0.8999999999999999 0.0 Uncertain significance 0 -410186 Simple 1060502785 A . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast 2017-06-05 9.0 0.5 Pathogenic/Likely pathogenic 0 -410190 Simple 753676934 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-08 -0.6 0.5 Uncertain significance 0 -410191 Simple 1060502788 A . Pathogenic 2 2 Familial cancer of breast;not provided 2017-05-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -410192 Simple 1060502789 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.5 Uncertain significance 0 -410195 Simple 148921082 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -410196 Simple 911734555 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-05 -0.6 0.5 Uncertain significance 0 -410199 Simple 1060502794 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-21 -0.6 1.0 Uncertain significance 0 -410201 Simple 1060502796 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-29 -0.6 1.0 Uncertain significance 0 -410204 Simple 956172059 T . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-23 -1.2 0.75 Uncertain significance 0 -410228 Simple 1060502813 - . Uncertain significance 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2016-09-29 -0.6 1.0 Uncertain significance 0 -410266 Simple 267606628 A . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5;not specified 2017-07-11 -0.6 0.5 Uncertain significance 0 -410269 Simple 1060502827 C . Pathogenic/Likely pathogenic 2 2 Loeys-Dietz syndrome 4;not provided 2017-03-15 9.0 0.5 Pathogenic/Likely pathogenic 0 -410273 Simple 920721092 T . Uncertain significance 2 2 not specified;Loeys-Dietz syndrome 4 2017-07-11 -0.6 0.5 Uncertain significance 0 -410274 Simple 145121701 A . Uncertain significance 2 2 not specified;Loeys-Dietz syndrome 4 2017-09-29 -0.6 0.5 Uncertain significance 0 -410349 Simple 764149433 A . Uncertain significance 2 2 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2016-11-02 -0.5700000000000001 1.5 Uncertain significance 0 -410357 Simple 1060502860 C . Uncertain significance 2 2 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2016-04-30 -0.5700000000000001 1.5 Uncertain significance 0 -410386 Simple 1060502870 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-01 -0.6 1.0 Uncertain significance 0 -410392 Simple 768740986 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-03 -1.2 0.25 Uncertain significance 0 -410393 Simple 575714670 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-23 -0.6 1.0 Uncertain significance 0 -410394 Simple 201191389 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -410404 Simple 1060502881 - . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-05 15.600000000000001 2.0 Pathogenic 0 -410409 Simple 1060502883 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-15 -0.6 1.0 Uncertain significance 0 -410412 Simple 1060502886 - . Pathogenic 2 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2016-10-31 18.0 1.0 Pathogenic 0 -410423 Simple 1060502894 C . Uncertain significance 2 3 Lynch syndrome;not specified 2017-06-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410425 Simple 748398941 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410426 Simple 587779215 A . Pathogenic 2 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-07 17.4 1.0 Pathogenic 0 -410430 Simple 587779920 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410432 Simple 1060502899 A . Uncertain significance 2 2 Lynch syndrome;not specified 2017-02-06 -0.6 1.0 Uncertain significance 0 -410435 Simple 776547943 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-12-13 -0.87 1.3333333333333333 Uncertain significance 0 -410440 Simple 942019524 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -1.2 0.75 Uncertain significance 0 -410447 Simple 587779293 T . Uncertain significance 2 2 Lynch syndrome;not specified 2016-11-08 -0.6 1.0 Uncertain significance 0 -410448 Simple 1060502906 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.5 Uncertain significance 0 -410451 Simple 377356882 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410453 Simple 1060502908 C . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.2 0.75 Uncertain significance 0 -410462 Simple 1060502915 T . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410463 Simple 759092293 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 -0.84 1.3333333333333333 Uncertain significance 0 -410470 Simple 1060502918 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-13 12.0 1.0 Pathogenic/Likely pathogenic 1 -410471 Simple 374230313 G . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-20 11.4 1.5 Pathogenic/Likely pathogenic 1 -410474 Simple 766817979 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-19 -0.6 1.0 Uncertain significance 0 -410481 Simple 774249402 C . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-09-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410483 Simple 746532720 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-09 -0.6 0.5 Uncertain significance 0 -410485 Simple 1060502925 C . Uncertain significance 2 2 Lynch syndrome;not specified 2016-11-23 -0.6 1.0 Uncertain significance 0 -410492 Simple 150632241 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-30 -1.2 0.75 Uncertain significance 0 -410493 Simple 730881812 T . Uncertain significance 2 2 Lynch syndrome;not specified 2017-09-04 -0.6 0.5 Uncertain significance 0 -410494 Simple 1060502928 AA . Pathogenic/Likely pathogenic 2 4 Hereditary nonpolyposis colorectal cancer type 5;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 21.0 0.5 Pathogenic 1 -410496 Simple 756216566 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-14 -0.6 0.5 Uncertain significance 0 -410497 Simple 764113705 C . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-15 -1.2 0.75 Uncertain significance 0 -410502 Simple 1060502931 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-03 -0.6 1.0 Uncertain significance 0 -410503 Simple 1060502932 - . Pathogenic 2 2 Lynch syndrome;not provided 2017-02-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -410511 Simple 75095286 C . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -410512 Simple 764870249 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410514 Simple 752839086 A . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410516 Simple 1060502936 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-29 -0.6 1.0 Uncertain significance 0 -410520 Simple 1060502938 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-21 -0.6 0.5 Uncertain significance 0 -410521 Simple 1060502939 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-04 -0.6 1.0 Uncertain significance 0 -410524 Simple 777799551 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-29 -0.6 0.5 Uncertain significance 0 -410525 Simple 1060502942 A . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -410527 Simple 567785169 G . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2016-08-10 -0.8999999999999999 1.0 Uncertain significance 0 -410528 Simple 1060502944 G . Uncertain significance 2 2 Lynch syndrome;not specified 2016-05-20 -0.5700000000000001 1.5 Uncertain significance 0 -410530 Simple 267608128 TTATTA . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-01 -1.2 1.0 Uncertain significance 0 -410531 Simple 757622849 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-22 -0.6 1.0 Uncertain significance 0 -410533 Simple 267608128 GGA . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-23 -0.5700000000000001 1.0 Uncertain significance 0 -410535 Simple 876660882 A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410541 Simple 141775154 C . Uncertain significance 2 2 Pyridoxine-dependent epilepsy;not specified 2017-05-03 -0.6 0.5 Uncertain significance 0 -410544 Simple 1060502951 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-08-23 -0.87 1.0 Uncertain significance 0 -410546 Simple 374730714 G . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -410547 Simple 1060502952 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.5 Uncertain significance 0 -410548 Simple 775045445 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-09-07 -0.6 0.0 Uncertain significance 0 -410552 Simple 750219200 T . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-07-07 15.0 0.6666666666666666 Pathogenic 1 -410557 Simple 139642328 T . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-09-18 -0.8999999999999999 0.0 Uncertain significance 0 -410558 Simple 1060502957 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-05-17 -0.6 0.5 Uncertain significance 0 -410559 Simple 371812219 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-11-29 -0.6 1.0 Uncertain significance 0 -410562 Simple 752910287 C . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.87 1.0 Uncertain significance 0 -410563 Simple 376855484 T . Uncertain significance 2 4 Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -1.14 1.0 Uncertain significance 0 -410569 Simple 1060502964 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-09-02 -0.6 1.0 Uncertain significance 0 -410575 Simple 773546298 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-13 -0.6 1.0 Uncertain significance 0 -410578 Simple 375844934 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-04 -0.6 1.0 Uncertain significance 0 -410580 Simple 201926457 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.6 0.5 Uncertain significance 0 -410583 Simple 776700061 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-24 -0.6 1.0 Uncertain significance 0 -410586 Simple 370705797 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-11 -0.6 1.0 Uncertain significance 0 -410589 Simple 59362219 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -0.6 1.0 Uncertain significance 0 -410604 Simple 149732789 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-03-08 -0.6 0.5 Uncertain significance 0 -410606 Simple . . . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-07-06 -0.6 0.0 Uncertain significance 0 -410648 Simple 201856473 G . Uncertain significance 2 3 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2017-11-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -410664 Simple 1060502998 T . Uncertain significance 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-05-11 -0.5700000000000001 1.0 Uncertain significance 0 -410709 Simple 765514964 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 1;Hereditary cancer-predisposing syndrome;Schwannomatosis 2017-02-07 -0.6 1.0 Uncertain significance 0 -410728 Simple 774228906 A . Uncertain significance 2 2 Renal hamartomas nephroblastomatosis and fetal gigantism;not provided 2017-05-19 -0.6 0.5 Uncertain significance 0 -410927 Simple 1060503079 A . Pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2016-11-16 10.8 2.0 Pathogenic/Likely pathogenic 1 -410930 Simple 766529534 A . Benign/Likely benign 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-06-23 -9.0 0.0 Benign/Likely benign 0 -410935 Simple 1060503084 A . Uncertain significance 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2016-12-16 -0.5700000000000001 1.5 Uncertain significance 0 -410950 Simple 187912365 T . Uncertain significance 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.5 Uncertain significance 0 -411015 Simple 1060503110 C . Pathogenic 2 2 Lynch syndrome;not provided 2017-10-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -411017 Simple 1060503111 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-06 -0.6 1.0 Uncertain significance 0 -411022 Simple 587782500 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-29 -0.6 0.0 Uncertain significance 0 -411026 Simple 372539944 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-14 -1.17 1.0 Uncertain significance 0 -411031 Simple 750354871 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.5 Uncertain significance 0 -411033 Simple 1060503120 A . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411034 Simple 375553553 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-23 -1.2 0.25 Uncertain significance 0 -411037 Simple 760629688 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-01 -0.6 0.5 Uncertain significance 0 -411038 Simple 757409701 C . Uncertain significance 2 3 not specified;Hereditary nonpolyposis colon cancer 2017-06-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411042 Simple 1060503126 ATGT . Uncertain significance 2 2 Lynch syndrome;not specified 2017-03-23 -0.6 0.5 Uncertain significance 0 -411043 Simple 1060503127 T . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -411049 Simple 977251189 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -1.2 0.25 Uncertain significance 0 -411051 Simple 1060503131 T . Uncertain significance 2 3 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411053 Simple 1060503133 A . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-15 -0.6 1.0 Uncertain significance 0 -411056 Simple 63751230 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-04 -0.6 1.0 Uncertain significance 0 -411059 Simple 1060503137 - . Pathogenic 2 3 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-09 18.0 0.6666666666666666 Pathogenic 0 -411066 Simple 1060503141 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-16 -0.6 1.0 Uncertain significance 0 -411067 Simple 755960629 A . Uncertain significance 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-18 -0.8999999999999999 1.0 Uncertain significance 0 -411070 Simple 1060503120 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -411074 Simple 1060503144 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-16 -0.6 0.5 Uncertain significance 0 -411079 Simple 138387687 A . Uncertain significance 2 2 Lynch syndrome;not specified 2017-10-06 -0.6 0.5 Uncertain significance 0 -411083 Simple 573374779 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -0.6 0.0 Uncertain significance 0 -411084 Simple 764342199 A . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -411085 Simple 777095030 G . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-28 -0.6 0.5 Uncertain significance 0 -411093 Simple 1060503152 A . Uncertain significance 2 2 not specified;Rasopathy 2017-10-16 -0.6 0.0 Uncertain significance 0 -411142 Simple 1060503168 C . Uncertain significance 2 2 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2016-09-12 -0.6 1.0 Uncertain significance 0 -411145 Simple 61368398 A . Uncertain significance 2 2 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-06-02 -0.6 0.0 Uncertain significance 0 -411147 Simple 771499260 A . Uncertain significance 2 2 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2016-11-11 -0.6 1.0 Uncertain significance 0 -411158 Simple 372156619 A . Uncertain significance 2 2 SeSAME syndrome;not specified 2017-10-12 -0.6 0.5 Uncertain significance 0 -411189 Simple 773047607 T . Pathogenic/Likely pathogenic 2 2 CHARGE association 2017-12-13 9.0 0.5 Pathogenic/Likely pathogenic 0 -411208 Simple 868755168 A . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-02-13 -0.6 1.0 Uncertain significance 0 -411236 Simple 940292214 G . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2016-11-14 -0.6 1.0 Uncertain significance 0 -411242 Simple 370916731 A . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.5 Uncertain significance 0 -411246 Simple 764738792 A . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -411249 Simple 1033725987 T . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-01-09 -0.6 1.0 Uncertain significance 0 -411259 Simple 1060503214 A . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2016-04-30 -0.5700000000000001 1.5 Uncertain significance 0 -411267 Simple 1060503218 C . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2016-04-30 -0.6 1.0 Uncertain significance 0 -411271 Simple 952813051 T . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.5 Uncertain significance 0 -411297 Simple 374043005 A . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2016-11-10 -0.6 1.0 Uncertain significance 0 -411307 Simple 779485996 T . Pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;not provided 2017-08-31 12.0 0.5 Pathogenic/Likely pathogenic 1 -411310 Simple 1060503244 AA . Uncertain significance 2 2 Hereditary hemorrhagic telangiectasia type 2;not specified 2017-07-06 -0.6 0.5 Uncertain significance 0 -411314 Simple 1060503248 A . Pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not specified 2016-10-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -411334 Simple 375743017 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411335 Simple 767457050 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-18 -0.6 0.0 Uncertain significance 0 -411340 Simple 1060503260 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-21 -0.6 0.5 Uncertain significance 0 -411343 Simple 904971132 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411348 Simple 1060503264 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-11-12 -0.8999999999999999 1.0 Uncertain significance 0 -411356 Simple 551183536 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-07 -0.8999999999999999 1.0 Uncertain significance 0 -411357 Simple 745692178 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411358 Simple 755904252 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-17 -0.6 1.0 Uncertain significance 0 -411359 Simple 1060503269 - . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-10-26 -0.8999999999999999 0.0 Uncertain significance 0 -411360 Simple 767741687 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-16 -0.6 1.0 Uncertain significance 0 -411362 Simple 878853432 A . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2017-06-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -411364 Simple 369345931 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411367 Simple 777604445 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-19 -0.6 0.0 Uncertain significance 0 -411374 Simple 1060503275 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-07 -0.6 0.5 Uncertain significance 0 -411375 Simple 1060503276 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-23 -0.6 1.0 Uncertain significance 0 -411376 Simple 1060503277 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-14 -0.6 1.0 Uncertain significance 0 -411377 Simple 876658910 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-01 -0.5700000000000001 1.5 Uncertain significance 0 -411381 Simple 944674770 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-09 -0.6 0.5 Uncertain significance 0 -411383 Simple 1060503281 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-09 -0.6 0.0 Uncertain significance 0 -411386 Simple 770976457 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-17 -0.8999999999999999 1.0 Uncertain significance 0 -411389 Simple 756266694 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-16 -0.6 1.0 Uncertain significance 0 -411393 Simple 587779804 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2016-10-24 -0.87 1.3333333333333333 Uncertain significance 0 -411394 Simple 147740612 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411395 Simple 774296531 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-28 -0.87 1.0 Uncertain significance 0 -411397 Simple 1060503286 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-15 -0.6 1.0 Uncertain significance 0 -411401 Simple 775727621 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2016-10-16 -0.6 1.0 Uncertain significance 0 -411403 Simple 545125246 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-04 -0.5700000000000001 1.0 Uncertain significance 0 -411412 Simple 1060503293 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-03-27 -0.6 0.5 Uncertain significance 0 -411413 Simple 1003390887 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.8999999999999999 0.0 Uncertain significance 0 -411416 Simple 886039507 A . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-17 12.0 0.5 Pathogenic/Likely pathogenic 1 -411418 Simple 750884499 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-07 -0.8999999999999999 1.0 Uncertain significance 0 -411419 Simple 749142480 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-15 -0.6 1.0 Uncertain significance 0 -411421 Simple 879367927 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411430 Simple 750821213 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-06-06 -0.6 1.0 Uncertain significance 0 -411432 Simple 1060503300 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-07-26 -0.6 1.0 Uncertain significance 0 -411434 Simple 199648202 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-25 -0.6 0.0 Uncertain significance 0 -411443 Simple 777760565 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-09 -0.6 0.5 Uncertain significance 0 -411444 Simple 750503329 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -1.2 0.25 Uncertain significance 0 -411445 Simple 555019540 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -1.2 0.75 Uncertain significance 0 -411447 Simple 1060503310 G . Pathogenic 2 2 Familial adenomatous polyposis 1 2017-03-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -411449 Simple 1060503311 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-09 -0.5700000000000001 1.5 Uncertain significance 0 -411450 Simple 1060503312 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411453 Simple 755221428 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-24 -0.6 0.5 Uncertain significance 0 -411458 Simple 761886683 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.0 Uncertain significance 0 -411461 Simple 138410865 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -411463 Simple 1060503318 T . Pathogenic/Likely pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-29 8.4 1.5 Pathogenic/Likely pathogenic 0 -411469 Simple 1060503323 A . Pathogenic/Likely pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-11-14 8.4 1.5 Pathogenic/Likely pathogenic 0 -411470 Simple 1057518472 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -0.84 1.3333333333333333 Uncertain significance 0 -411471 Simple 373607243 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-04-03 -0.54 1.5 Uncertain significance 0 -411478 Simple 747362422 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.0 Uncertain significance 0 -411482 Simple 751249843 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-10-24 -1.2 0.25 Uncertain significance 0 -411487 Simple 763438389 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-01 -0.6 0.5 Uncertain significance 0 -411488 Simple 1060503333 G . Pathogenic 2 4 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-05-19 24.0 0.75 Pathogenic 0 -411491 Simple 1060503335 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-10-09 -0.87 1.0 Uncertain significance 0 -411494 Simple 1060503336 A . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-06-02 11.4 1.5 Pathogenic/Likely pathogenic 1 -411498 Simple 763630775 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-28 -0.87 1.0 Uncertain significance 0 -411500 Simple 587781600 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -411501 Simple 745811356 C . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-14 -1.2 0.0 Uncertain significance 0 -411502 Simple 1060503339 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-06-13 -0.6 0.5 Uncertain significance 0 -411506 Simple 1060503343 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -0.87 1.0 Uncertain significance 0 -411508 Simple 775060363 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-23 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411512 Simple 1060503345 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-29 -0.6 0.0 Uncertain significance 0 -411513 Simple 752604668 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.0 Uncertain significance 0 -411515 Simple 779068685 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-21 -0.8999999999999999 0.0 Uncertain significance 0 -411516 Simple 762190393 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-17 -0.6 1.0 Uncertain significance 0 -411517 Simple 763392909 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-24 -0.6 1.0 Uncertain significance 0 -411520 Simple 1060503346 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2016-06-16 -0.5700000000000001 1.5 Uncertain significance 0 -411523 Simple 1060503349 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-24 -0.6 1.0 Uncertain significance 0 -411524 Simple 1060503350 A . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -1.17 0.75 Uncertain significance 0 -411526 Simple 1060503352 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-05-18 -0.6 0.5 Uncertain significance 0 -411532 Simple 1060503356 GTATGTAT . Conflicting interpretations of pathogenicity 1 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-31 -3.6 1.0 Uncertain significance 0 -411535 Simple 1060503359 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-07-01 -0.6 1.0 Uncertain significance 0 -411537 Simple 756664931 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-07-22 -0.6 1.0 Uncertain significance 0 -411544 Simple 1060503364 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-06-15 -0.6 1.0 Uncertain significance 0 -411546 Simple 1060503365 - . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -411555 Simple 1060503372 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-22 -0.6 1.0 Uncertain significance 0 -411556 Simple 762117133 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411557 Simple 1060503373 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411558 Simple 200593940 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411562 Simple 748342378 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-07 -0.6 1.0 Uncertain significance 0 -411563 Simple 141024271 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411565 Simple 1060503377 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -411566 Simple 1060503378 - . Pathogenic 2 2 Mental retardation, autosomal dominant 5;not provided 2017-03-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -411568 Simple 763486328 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411578 Simple 367783346 G . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-02-02 -0.6 1.0 Uncertain significance 0 -411584 Simple 1060503383 T . Pathogenic 2 2 Mental retardation, autosomal dominant 5;not provided 2017-06-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -411602 Simple 1060503389 A . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.5 Uncertain significance 0 -411605 Simple 140920079 C . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-09-07 -0.6 0.0 Uncertain significance 0 -411607 Simple 149277592 T . Uncertain significance 2 3 Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified;Hereditary cancer-predisposing syndrome 2016-09-01 -0.8999999999999999 1.0 Uncertain significance 0 -411610 Simple 775763888 G . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-02-06 -0.6 1.0 Uncertain significance 0 -411612 Simple 572576746 A . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2016-11-28 -0.6 1.0 Uncertain significance 0 -411617 Simple 770830310 C . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -411618 Simple 1060503396 A . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.0 Uncertain significance 0 -411619 Simple 201509164 A . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -411627 Simple 141608069 G . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2016-12-23 -0.6 1.0 Uncertain significance 0 -411628 Simple 876660750 C . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.87 1.0 Uncertain significance 0 -411632 Simple 1060503401 A . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2017-01-11 -0.5700000000000001 1.5 Uncertain significance 0 -411633 Simple 1060503402 G . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-21 -0.6 0.5 Uncertain significance 0 -411634 Simple 1060503403 C . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-10-11 -0.6 0.5 Uncertain significance 0 -411639 Simple 147971049 A . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-03-22 -0.6 0.5 Uncertain significance 0 -411643 Simple 755462552 C . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-25 -1.2 0.5 Uncertain significance 0 -411644 Simple 780148965 C . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-12-11 -0.5700000000000001 1.5 Uncertain significance 0 -411645 Simple 1060503410 G . Uncertain significance 2 4 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-25 -1.2 0.5 Uncertain significance 0 -411646 Simple 1060503411 C . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-11-10 -0.6 1.0 Uncertain significance 0 -411678 Simple 1060503427 TT . Pathogenic 2 2 Spastic paraplegia 7;not provided 2017-11-09 12.0 0.0 Pathogenic/Likely pathogenic 1 -411680 Simple 1060503428 - . Pathogenic/Likely pathogenic 2 6 Spastic paraplegia 7;Hereditary spastic paraplegia;not provided 2017-10-17 29.4 0.5 Pathogenic 1 -411682 Simple 746053679 T . Pathogenic/Likely pathogenic 2 2 Spastic paraplegia 7;not provided 2016-10-26 8.4 1.5 Pathogenic/Likely pathogenic 0 -411685 Simple 199645805 C . Uncertain significance 2 2 Weaver syndrome;not specified 2016-11-09 -0.5700000000000001 1.5 Uncertain significance 0 -411689 Simple 776156836 A . Uncertain significance 2 2 not specified;Spastic paraplegia 2017-07-26 -0.6 0.5 Uncertain significance 0 -411739 Simple 941732827 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -411741 Simple 1060503454 A . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-09-13 -0.6 0.5 Uncertain significance 0 -411748 Simple 1060503461 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-03-31 -0.6 0.5 Uncertain significance 0 -411749 Simple 746965070 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-08-29 -0.6 1.0 Uncertain significance 0 -411756 Simple 1060503467 - . Pathogenic 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -411760 Simple 1064795318 TG . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-08-29 -0.6 0.0 Uncertain significance 0 -411766 Simple 748090667 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-02-20 -0.6 1.0 Uncertain significance 0 -411778 Simple 1060503482 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.5 Uncertain significance 0 -411780 Simple . TT . Pathogenic/Likely pathogenic 2 3 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-08-17 15.0 0.6666666666666666 Pathogenic 1 -411781 Simple 1060503484 A . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-11-15 -0.6 1.0 Uncertain significance 0 -411782 Simple 746632073 G . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411786 Simple 151070415 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.5 Uncertain significance 0 -411787 Simple 986903713 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-05-03 -0.6 1.0 Uncertain significance 0 -411788 Simple 922057169 G . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-10-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411789 Simple 763926389 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-11-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -411791 Simple 759723870 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2016-09-15 -0.5700000000000001 1.5 Uncertain significance 0 -411806 Simple 1064792986 . . Likely pathogenic 2 2 Spastic paraplegia 31, autosomal dominant;not provided 2017-06-09 6.0 0.5 Likely pathogenic 0 -411863 Simple 150147476 G . Uncertain significance 2 2 Left ventricular noncompaction 1;not specified 2017-10-30 -0.6 0.5 Uncertain significance 0 -411870 Simple 1060503526 T . Pathogenic 2 3 Polycystic kidney disease, autosomal dominant;not specified;not provided 2016-09-20 18.0 1.0 Pathogenic 0 -411893 Simple 1060503536 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.0 Uncertain significance 0 -411896 Simple 759522148 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-02-06 -0.6 1.0 Uncertain significance 0 -411901 Simple 781777052 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-11-13 -0.6 1.0 Uncertain significance 0 -411915 Simple 1060503542 C . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-01-12 -0.6 1.0 Uncertain significance 0 -411942 Simple 374031590 T . Uncertain significance 2 2 not specified 2016-12-20 -0.6 1.0 Uncertain significance 0 -411956 Simple 1035077469 G . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-04-06 -0.6 0.5 Uncertain significance 0 -411963 Simple 1060503554 C . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2016-10-22 -0.6 1.0 Uncertain significance 0 -411964 Simple 1060503555 C . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2016-10-12 -0.6 1.0 Uncertain significance 0 -411967 Simple 1060503557 T . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-04-25 -0.6 0.0 Uncertain significance 0 -411970 Simple 375401722 T . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-08-03 -0.6 0.0 Uncertain significance 0 -411973 Simple 1060503561 A . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-09-06 -0.6 0.5 Uncertain significance 0 -411974 Simple 199926195 T . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2016-11-15 -0.6 1.0 Uncertain significance 0 -411979 Simple . AA . Pathogenic 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-12-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -411981 Simple 963501454 T . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-08-30 -0.6 0.5 Uncertain significance 0 -412039 Simple 1060503585 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -412041 Simple 1060503586 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.5 Uncertain significance 0 -412046 Simple 567895583 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-25 -0.6 0.0 Uncertain significance 0 -412050 Simple 1060503591 - . Pathogenic 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 9.6 2.5 Pathogenic/Likely pathogenic 1 -412051 Simple 759760077 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.0 Uncertain significance 0 -412052 Simple 1060503592 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-02 -0.6 0.5 Uncertain significance 0 -412054 Simple 145669719 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.0 Uncertain significance 0 -412056 Simple 1060503594 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-04-07 -0.6 0.5 Uncertain significance 0 -412057 Simple 377685186 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.0 Uncertain significance 0 -412061 Simple 549532374 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-18 -0.6 0.0 Uncertain significance 0 -412065 Simple 201883449 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.0 Uncertain significance 0 -412071 Simple 1060503601 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-06 -0.6 0.5 Uncertain significance 0 -412072 Simple 1060503602 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-07 -0.6 0.0 Uncertain significance 0 -412074 Simple 776219930 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.5 Uncertain significance 0 -412078 Simple 778219828 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.5 Uncertain significance 0 -412081 Simple 1060503608 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -412086 Simple 542398644 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -412089 Simple 201298288 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-12 -0.6 0.5 Uncertain significance 0 -412095 Simple 988095775 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.0 Uncertain significance 0 -412097 Simple 139346443 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-13 -0.6 0.0 Uncertain significance 0 -412101 Simple 200925349 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-30 -0.6 0.0 Uncertain significance 0 -412102 Simple 545392797 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-30 -0.6 0.0 Uncertain significance 0 -412112 Simple 180918578 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -412116 Simple 747510783 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.0 Uncertain significance 0 -412117 Simple 748087536 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-26 -0.6 0.0 Uncertain significance 0 -412118 Simple 996633792 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-13 -0.6 0.0 Uncertain significance 0 -412125 Simple 1060503630 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.0 Uncertain significance 0 -412128 Simple 750104632 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-21 -0.6 0.5 Uncertain significance 0 -412138 Simple 768315203 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-24 -0.6 0.5 Uncertain significance 0 -412140 Simple 777127946 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-08 -0.6 0.5 Uncertain significance 0 -412143 Simple 1060503639 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-02-10 -0.6 1.0 Uncertain significance 0 -412153 Simple 368963384 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.5 Uncertain significance 0 -412157 Simple 367797765 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -412159 Simple 369465519 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-31 -0.6 0.0 Uncertain significance 0 -412160 Simple 745601023 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-10 -0.6 0.5 Uncertain significance 0 -412167 Simple 527568726 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-03-31 -0.6 0.5 Uncertain significance 0 -412172 Simple 756051157 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.0 Uncertain significance 0 -412174 Simple 200408568 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-02 -0.6 0.0 Uncertain significance 0 -412179 Simple 1060503657 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-29 -0.6 0.5 Uncertain significance 0 -412180 Simple 780815020 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.0 Uncertain significance 0 -412185 Simple 894664317 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-09 -0.6 0.0 Uncertain significance 0 -412193 Simple 750932552 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-20 -0.6 0.0 Uncertain significance 0 -412197 Simple 774672421 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.5 Uncertain significance 0 -412200 Simple 143841809 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -412206 Simple 548217466 A . Uncertain significance 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-04-17 -0.6 0.5 Uncertain significance 0 -412225 Simple 551822626 G . Uncertain significance 2 2 Infantile-onset ascending hereditary spastic paralysis;Hereditary spastic paraplegia 2017-03-07 -0.6 0.5 Uncertain significance 0 -412234 Simple 199981070 A . Uncertain significance 2 2 Spastic paraplegia 48, autosomal recessive;not specified 2017-06-08 -0.6 0.5 Uncertain significance 0 -412238 Simple 1060503677 T . Uncertain significance 2 2 not specified;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 2018-01-31 -0.6 0.0 Uncertain significance 0 -412273 Simple 559395092 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-08-09 -0.6 0.5 Uncertain significance 0 -412276 Simple 148833906 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-10-02 -0.6 0.0 Uncertain significance 0 -412322 Simple 372738835 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2016-11-28 -0.6 1.0 Uncertain significance 0 -412329 Simple 61754481 C . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-04-15 -0.6 0.5 Uncertain significance 0 -412332 Simple 777600956 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-04-28 -0.6 0.5 Uncertain significance 0 -412345 Simple 200021115 C . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-09 -0.6 0.5 Uncertain significance 0 -412349 Simple 373340696 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.0 Uncertain significance 0 -412361 Simple 141493530 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.0 Uncertain significance 0 -412364 Simple 377509915 C . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-09-14 -0.6 0.0 Uncertain significance 0 -412376 Simple 750327309 T . Uncertain significance 2 3 Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -412377 Simple 1060503719 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2016-08-26 -0.6 1.0 Uncertain significance 0 -412378 Simple 1060503720 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2016-04-09 -0.5700000000000001 1.5 Uncertain significance 0 -412380 Simple 754805626 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;not specified 2017-09-22 -0.6 0.0 Uncertain significance 0 -412381 Simple 760106352 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-01-04 -0.6 1.0 Uncertain significance 0 -412386 Simple 780064103 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-09-18 -0.6 0.0 Uncertain significance 0 -412387 Simple 878854638 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2016-09-07 -0.6 1.0 Uncertain significance 0 -412389 Simple 758054627 C . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -412393 Simple 369100772 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2016-06-15 -0.6 1.0 Uncertain significance 0 -412397 Simple 181238392 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.5 Uncertain significance 0 -412406 Simple 149974450 G . Uncertain significance 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-06-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -412414 Simple 1060503735 - . Pathogenic 2 2 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2016-12-11 12.0 1.0 Pathogenic/Likely pathogenic 1 -412416 Simple 771803950 A . Uncertain significance 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-09-15 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -412417 Simple 773097896 G . Uncertain significance 2 2 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-01-12 -0.6 1.0 Uncertain significance 0 -412424 Simple 535695655 G . Uncertain significance 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-09-14 -0.8999999999999999 0.0 Uncertain significance 0 -412432 Simple 748928044 T . Uncertain significance 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-03-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -412441 Simple 374746213 C . Uncertain significance 2 2 Tumor susceptibility linked to germline BAP1 mutations;not specified 2017-05-30 -0.6 0.5 Uncertain significance 0 -412462 Simple 1060503757 - . Pathogenic 2 2 Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-11-14 12.0 0.0 Pathogenic/Likely pathogenic 1 -412463 Simple 934514080 C . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-11-03 -0.6 0.5 Uncertain significance 0 -412466 Simple 774568101 C . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-03-20 -0.6 0.5 Uncertain significance 0 -412469 Simple 149091125 A . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2016-12-21 -0.6 1.0 Uncertain significance 0 -412472 Simple 201372280 G . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-08-08 -0.6 0.0 Uncertain significance 0 -412475 Simple 201098090 A . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-09-07 -0.6 0.5 Uncertain significance 0 -412478 Simple 772551056 A . Likely pathogenic 2 2 Paragangliomas 4;Hereditary cancer-predisposing syndrome 2017-06-14 6.0 0.0 Likely pathogenic 0 -412479 Simple 201385062 T . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -412481 Simple 1060503764 AA . Pathogenic/Likely pathogenic 2 2 Paragangliomas 4;Hereditary cancer-predisposing syndrome 2017-06-23 8.4 1.0 Pathogenic/Likely pathogenic 0 -412485 Simple 769687734 A . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -412486 Simple 770622939 C . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-04-05 -0.6 0.5 Uncertain significance 0 -412492 Simple 200414835 A . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-03-24 -0.6 0.5 Uncertain significance 0 -412498 Simple 1060503770 T . Pathogenic 2 2 Pheochromocytoma;Paragangliomas 1;Hereditary cancer-predisposing syndrome 2016-11-16 11.4 1.5 Pathogenic/Likely pathogenic 1 -412501 Simple 199517389 C . Uncertain significance 2 3 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;not specified;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-07-25 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -412506 Simple 199754684 G . Uncertain significance 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-02-28 -0.6 1.0 Uncertain significance 0 -412511 Simple 200255724 T . Uncertain significance 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.0 Uncertain significance 0 -412515 Simple 201869798 A . Uncertain significance 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -412532 Simple 1060503779 - . Likely benign 2 2 Spastic paraplegia 6;not specified 2017-07-25 -6.0 0.5 Likely benign 0 -412534 Simple 749563734 T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-09-05 -8.4 1.3333333333333333 Benign/Likely benign 1 -412536 Simple 1060503781 G . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-09-23 -6.0 1.0 Likely benign 0 -412541 Simple 1060503783 A . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-09-22 -6.0 0.5 Likely benign 0 -412547 Simple 187744790 T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-05-05 -5.7 1.5 Likely benign 0 -412548 Simple 1060503786 T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2016-12-21 -6.0 1.0 Likely benign 0 -412549 Simple 752961535 A . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -6.0 0.0 Likely benign 0 -412557 Simple 1060503789 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-06-06 -5.7 1.0 Likely benign 0 -412559 Simple 773363654 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-24 -6.0 0.5 Likely benign 0 -412560 Simple 1060503791 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-30 -6.0 0.5 Likely benign 0 -412561 Simple 763326062 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-11-08 -6.0 1.0 Likely benign 0 -412563 Simple 562620826 G . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-06-30 -5.7 1.0 Likely benign 0 -412568 Simple 200155578 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-28 -6.0 0.5 Likely benign 0 -412569 Simple 370176253 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-07-24 -6.0 1.0 Likely benign 0 -412573 Simple 144677807 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-17 -6.0 0.5 Likely benign 0 -412574 Simple 1060503796 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-02-21 -6.0 1.0 Likely benign 0 -412577 Simple 546721780 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-08-04 -5.7 1.0 Likely benign 0 -412578 Simple 371964966 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-04-23 -5.7 1.5 Likely benign 0 -412579 Simple 547249181 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-02-16 -6.0 1.0 Likely benign 0 -412580 Simple 576193460 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;not specified 2017-08-10 -6.0 0.5 Likely benign 0 -412581 Simple 763133775 G . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2016-12-21 -5.7 1.5 Likely benign 0 -412585 Simple 748820252 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-06-15 -6.0 0.0 Likely benign 0 -412615 Simple 1060503803 - . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-05-23 -6.0 0.0 Likely benign 0 -412688 Simple 138886038 A . Likely benign 2 2 Werner syndrome;not specified 2017-06-10 -5.7 1.0 Likely benign 0 -412724 Simple 149569288 C . Likely benign 2 2 Atrioventricular septal defect 5;not provided 2017-03-10 -6.0 0.5 Likely benign 0 -412737 Simple 200319078 A . Benign 2 2 not specified;Atrioventricular septal defect 4 2017-07-28 -12.0 0.0 Benign/Likely benign 1 -412769 Simple 772936800 CGCCGC . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-03-28 -6.0 0.5 Likely benign 0 -412780 Simple 370238588 A . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-02-08 -5.7 1.5 Likely benign 0 -412781 Simple 145787299 T . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2016-08-18 -5.7 1.5 Likely benign 0 -412801 Simple 1060503841 CC . Likely benign 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -9.0 0.3333333333333333 Benign/Likely benign 1 -412804 Simple 760146269 A . Likely benign 2 4 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -12.0 0.75 Benign/Likely benign 1 -412806 Simple 769324650 G . Likely benign 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2016-10-02 -5.7 1.5 Likely benign 0 -412807 Simple 752250585 T . Likely benign 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 -7.8 2.0 Likely benign 0 -412884 Simple 761928140 T . Likely benign 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-03-23 -6.0 0.5 Likely benign 0 -412885 Simple 151027466 T . Likely benign 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-08-02 -6.0 0.0 Likely benign 0 -412889 Simple 73281150 T . Benign/Likely benign 2 3 Multiple endocrine neoplasia, type 4;not provided;Hereditary cancer-predisposing syndrome 2017-08-03 -12.0 0.0 Benign/Likely benign 0 -412891 Simple 367611328 A . Likely benign 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-06-28 -6.0 0.0 Likely benign 0 -412892 Simple 374493057 T . Likely benign 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-03-30 -6.0 0.5 Likely benign 0 -412909 Simple 201767904 T . Likely benign 2 2 Neuroblastoma 3;Hereditary cancer-predisposing syndrome 2017-08-01 -6.0 0.5 Likely benign 0 -412924 Simple 373765395 G . Benign 2 2 Neuroblastoma 3;not specified 2017-06-21 -12.0 0.0 Benign/Likely benign 1 -412929 Simple 138784554 T . Benign/Likely benign 2 2 Neuroblastoma 3;Hereditary cancer-predisposing syndrome 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -412963 Simple 773474652 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-22 -5.7 1.0 Likely benign 0 -412964 Simple 1060503889 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-07 -6.0 0.5 Likely benign 0 -412967 Simple 1060503892 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-15 -5.7 1.0 Likely benign 0 -412968 Simple 876660849 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-05-20 -6.0 1.0 Likely benign 0 -412969 Simple 760941036 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-10-08 -5.7 1.5 Likely benign 0 -412979 Simple 762075320 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-02 -6.0 1.0 Likely benign 0 -412980 Simple 144635489 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-04 -5.7 1.0 Likely benign 0 -412983 Simple 368638966 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-09-26 -6.0 1.0 Likely benign 0 -412984 Simple 777755159 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-08 -6.0 1.0 Likely benign 0 -412989 Simple 1060503900 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-21 -5.7 1.5 Likely benign 0 -412990 Simple 876658475 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-06 -6.0 1.0 Likely benign 0 -412992 Simple 1060503901 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-18 -6.0 1.0 Likely benign 0 -412997 Simple 759005886 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-08 -6.0 1.0 Likely benign 0 -412999 Simple 1060503904 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-20 -6.0 1.0 Likely benign 0 -413001 Simple 1060503906 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-23 -5.7 1.0 Likely benign 0 -413009 Simple 767860040 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-06 -6.0 1.0 Likely benign 0 -413012 Simple 1060503911 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-01 -6.0 1.0 Likely benign 0 -413014 Simple 1028183407 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-11-18 -6.0 1.0 Likely benign 0 -413015 Simple 186556778 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-06-05 -6.0 1.0 Likely benign 0 -413017 Simple 1060503914 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-09-05 -5.7 1.5 Likely benign 0 -413018 Simple 760561904 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-08-24 -5.7 1.5 Likely benign 0 -413021 Simple 746022492 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-09-20 -6.0 1.0 Likely benign 0 -413022 Simple 765595990 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2016-12-10 -6.0 1.0 Likely benign 0 -413027 Simple 763874870 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-05 -5.7 1.0 Likely benign 0 -413030 Simple 1060503919 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-15 -6.0 0.5 Likely benign 0 -413032 Simple 1055695069 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-09 -6.0 0.5 Likely benign 0 -413033 Simple 201881479 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-09 -6.0 0.5 Likely benign 0 -413241 Simple 758676810 A . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2016-11-06 -6.0 1.0 Likely benign 0 -413243 Simple 367951215 A . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-04-29 -5.7 1.0 Likely benign 0 -413244 Simple 147816248 T . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-04-20 -5.4 1.5 Likely benign 0 -413285 Simple 55763079 C . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -6.0 0.0 Likely benign 0 -413287 Simple 151114049 A . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2016-12-09 -6.0 1.0 Likely benign 0 -413288 Simple 199861261 A . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2016-09-03 -6.0 1.0 Likely benign 0 -413294 Simple 147850738 T . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-05-23 -6.0 0.5 Likely benign 0 -413297 Simple 574053990 T . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-06-20 -6.0 0.5 Likely benign 0 -413298 Simple 201220226 G . Benign/Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -9.0 0.0 Benign/Likely benign 0 -413299 Simple 761288442 T . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-06-07 -6.0 0.5 Likely benign 0 -413303 Simple 372697241 T . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 -6.0 0.0 Likely benign 0 -413312 Simple 140169964 A . Benign/Likely benign 2 2 Mowat-Wilson syndrome;not specified 2016-11-01 -9.0 1.0 Benign/Likely benign 0 -413370 Simple 752241564 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-21 -8.7 0.6666666666666666 Benign/Likely benign 1 -413376 Simple 1060504006 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-04-09 -6.0 1.0 Likely benign 0 -413377 Simple 535965616 TTTTTT . Benign/Likely benign 2 2 Lynch syndrome;not specified 2017-04-18 -9.0 0.5 Benign/Likely benign 0 -413379 Simple 1060504008 A . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-05-09 -8.7 1.0 Benign/Likely benign 1 -413380 Simple 1057522427 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-25 -6.0 1.0 Likely benign 0 -413386 Simple 1060504012 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-27 -6.0 1.0 Likely benign 0 -413389 Simple 1060504014 T . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-22 -8.7 1.3333333333333333 Benign/Likely benign 1 -413394 Simple 782615607 T . Benign/Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2016-09-28 -9.0 1.0 Benign/Likely benign 0 -413426 Simple 1060504022 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-03-15 -6.0 0.5 Likely benign 0 -413433 Simple 779069779 T . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -9.0 0.3333333333333333 Benign/Likely benign 1 -413436 Simple 1060504026 G . Likely benign 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -9.0 0.0 Benign/Likely benign 1 -413437 Simple 549489716 A . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-25 -9.0 0.6666666666666666 Benign/Likely benign 1 -413438 Simple 1060504027 C . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-01 -6.0 0.5 Likely benign 0 -413439 Simple 141149381 C . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-14 -8.7 0.6666666666666666 Benign/Likely benign 1 -413440 Simple 750933193 G . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-15 -9.0 0.6666666666666666 Benign/Likely benign 1 -413442 Simple 1060504029 T . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 -8.7 0.6666666666666666 Benign/Likely benign 1 -413458 Simple 921948385 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-05-07 -5.7 1.5 Likely benign 0 -413460 Simple 201209972 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-31 -5.7 1.0 Likely benign 0 -413461 Simple 151148041 A . Benign/Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-12-05 -9.0 0.0 Benign/Likely benign 0 -413462 Simple 377160777 C . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-03-02 -6.0 1.0 Likely benign 0 -413470 Simple 144460361 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2016-12-06 -5.7 1.5 Likely benign 0 -413474 Simple 147318495 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-23 -6.0 0.0 Likely benign 0 -413490 Simple 373443211 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-30 -6.0 0.5 Likely benign 0 -413493 Simple 777955589 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-17 -6.0 0.5 Likely benign 0 -413496 Simple 1060504041 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-09-20 -5.7 1.5 Likely benign 0 -413497 Simple 5744822 G . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-11-08 -6.0 1.0 Likely benign 0 -413502 Simple 560825851 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-04 -5.7 1.0 Likely benign 0 -413504 Simple 187690610 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-07 -8.7 1.0 Benign/Likely benign 1 -413505 Simple 201841065 C . Benign/Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-23 -8.7 1.0 Benign/Likely benign 0 -413512 Simple 372044043 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-26 -6.0 0.5 Likely benign 0 -413514 Simple 371357642 G . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-30 -6.0 0.5 Likely benign 0 -413516 Simple 774280853 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-26 -5.7 1.0 Likely benign 0 -413518 Simple 770382974 T . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-03-24 -6.0 0.5 Likely benign 0 -413523 Simple 746976542 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-07 -5.7 1.0 Likely benign 0 -413524 Simple 371824210 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-02 -5.7 1.0 Likely benign 0 -413525 Simple 1060504051 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-04 -6.0 0.5 Likely benign 0 -413526 Simple 761902063 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-12-29 -6.0 1.0 Likely benign 0 -413536 Simple 145245295 C . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-04 -5.7 1.0 Likely benign 0 -413542 Simple 148838481 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-25 -5.7 1.0 Likely benign 0 -413543 Simple 146761597 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-21 -6.0 0.5 Likely benign 0 -413545 Simple 766306895 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-31 -5.7 1.0 Likely benign 0 -413547 Simple 775930793 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-12 -5.7 1.0 Likely benign 0 -413549 Simple 1035847971 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-09-19 -6.0 1.0 Likely benign 0 -413550 Simple 544223319 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-01 -9.0 1.0 Benign/Likely benign 1 -413556 Simple 371717068 T . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-17 -8.7 1.0 Benign/Likely benign 1 -413557 Simple 1046972573 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-18 -5.7 1.0 Likely benign 0 -413559 Simple 765532123 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-09-20 -5.7 1.5 Likely benign 0 -413560 Simple 766531363 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-15 -6.0 0.0 Likely benign 0 -413561 Simple 756542563 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-02 -6.0 0.5 Likely benign 0 -413563 Simple 201249963 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-05 -5.7 1.0 Likely benign 0 -413564 Simple 201656807 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-06 -5.7 1.0 Likely benign 0 -413565 Simple 767929667 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-18 -5.7 1.0 Likely benign 0 -413573 Simple 1060504065 C . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-30 -5.7 1.0 Likely benign 0 -413578 Simple 767676720 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-16 -6.0 0.5 Likely benign 0 -413579 Simple 1060504068 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-10-24 -6.0 1.0 Likely benign 0 -413581 Simple 376336585 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-03 -5.7 1.0 Likely benign 0 -413583 Simple 1060504070 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-17 -6.0 0.5 Likely benign 0 -413585 Simple 762772484 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-18 -6.0 0.0 Likely benign 0 -413590 Simple 139990705 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-17 -5.7 1.0 Likely benign 0 -413591 Simple 540203276 A . Benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-06-26 -12.0 0.0 Benign/Likely benign 1 -413595 Simple 1060504075 G . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-02 -6.0 0.5 Likely benign 0 -413597 Simple 765653117 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2016-11-22 -5.7 1.5 Likely benign 0 -413600 Simple 116001373 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-13 -6.0 1.0 Likely benign 0 -413601 Simple 766935890 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-12 -5.7 1.0 Likely benign 0 -413604 Simple 140873869 A . Likely benign 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-09-04 -6.0 0.5 Likely benign 0 -413617 Simple 376056309 G . Likely benign 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-01-22 -6.0 1.0 Likely benign 0 -413638 Simple 1060504088 C . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-10-08 -6.0 1.0 Likely benign 0 -413642 Simple 141486629 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-12-26 -6.0 1.0 Likely benign 0 -413649 Simple 370770569 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-30 -8.7 1.0 Benign/Likely benign 0 -413652 Simple 376306544 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-01-04 -6.0 1.0 Likely benign 0 -413662 Simple 769246304 A . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-09 -9.0 0.5 Benign/Likely benign 0 -413664 Simple 779843919 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-11 -5.7 1.0 Likely benign 0 -413675 Simple 374687688 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-18 -5.7 1.0 Likely benign 0 -413676 Simple 758114962 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-10-30 -5.7 1.5 Likely benign 0 -413678 Simple 1060504100 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-28 -6.0 0.5 Likely benign 0 -413682 Simple 138897064 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-12-19 -6.0 1.0 Likely benign 0 -413691 Simple 777489742 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-11 -6.0 0.5 Likely benign 0 -413695 Simple 377474730 G . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-12-29 -5.7 1.5 Likely benign 0 -413701 Simple 757388437 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-03-13 -6.0 0.5 Likely benign 0 -413705 Simple 372321790 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-12 -6.0 0.5 Likely benign 0 -413707 Simple 765271161 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-10-12 -6.0 1.0 Likely benign 0 -413715 Simple 770413433 C . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-12-21 -6.0 1.0 Likely benign 0 -413724 Simple 1060504114 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-17 -6.0 0.5 Likely benign 0 -413731 Simple 370353005 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-05 -5.7 1.0 Likely benign 0 -413736 Simple 754348511 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2016-12-20 -6.0 1.0 Likely benign 0 -413744 Simple 993220492 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-11 -6.0 0.5 Likely benign 0 -413750 Simple 754951889 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-03 -6.0 0.5 Likely benign 0 -413776 Simple 6413505 T . Benign 2 2 Familial hypercholesterolemia 2017-07-27 -11.4 1.0 Benign/Likely benign 1 -413781 Simple 141432364 G . Likely benign 2 2 Carney complex, type 1;Hereditary cancer-predisposing syndrome 2017-08-18 -6.0 0.0 Likely benign 0 -413782 Simple 372669687 C . Likely benign 2 2 Carney complex, type 1;Hereditary cancer-predisposing syndrome 2017-07-11 -6.0 0.0 Likely benign 0 -413784 Simple 143672551 C . Benign/Likely benign 2 2 Carney complex, type 1;Hereditary cancer-predisposing syndrome 2017-06-21 -9.0 0.0 Benign/Likely benign 0 -413786 Simple 1060504126 G . Likely benign 2 2 Carney complex, type 1;Hereditary cancer-predisposing syndrome 2017-05-22 -6.0 0.0 Likely benign 0 -413807 Simple 79149293 G . Likely benign 2 2 not specified;not provided 2017-06-15 -6.0 0.5 Likely benign 0 -413912 Simple 149513330 T . Benign/Likely benign 2 3 Gorlin syndrome;Medulloblastoma;not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -12.0 0.6666666666666666 Benign/Likely benign 0 -413913 Simple 745349651 A . Likely benign 2 2 Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome 2017-07-21 -6.0 0.0 Likely benign 0 -413923 Simple 190973308 A . Benign/Likely benign 2 2 Congenital central hypoventilation;Hereditary cancer-predisposing syndrome 2017-07-05 -9.0 0.5 Benign/Likely benign 0 -413989 Simple 201087708 A . Benign/Likely benign 2 2 Dyskeratosis congenita;not specified 2017-06-29 -8.7 1.0 Benign/Likely benign 0 -413993 Simple 577083743 AA . Benign/Likely benign 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2017-05-15 -8.7 1.0 Benign/Likely benign 0 -413995 Simple 139687202 G . Benign/Likely benign 2 2 Spastic paraplegia 11, autosomal recessive;not specified 2017-07-12 -9.0 0.5 Benign/Likely benign 0 -414036 Simple 766765429 G . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-10-26 -5.7 1.5 Likely benign 0 -414037 Simple 573130482 C . Likely benign 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2016-12-08 -6.0 1.0 Likely benign 0 -414048 Simple 777822181 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-10-21 -5.7 1.5 Likely benign 0 -414051 Simple 1060504173 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-19 -5.7 1.0 Likely benign 0 -414053 Simple 982151802 G . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-29 -8.7 0.6666666666666666 Benign/Likely benign 1 -414056 Simple 138493551 C . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-14 -6.0 0.0 Likely benign 0 -414066 Simple 559270110 T . Likely benign 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-08-14 -9.0 0.6666666666666666 Benign/Likely benign 1 -414068 Simple 765879351 C . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2016-12-11 -6.0 1.0 Likely benign 0 -414080 Simple 147939483 A . Benign/Likely benign 2 2 Drash syndrome;Frasier syndrome;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WAGR syndrome 2017-07-20 -9.0 0.5 Benign/Likely benign 0 -414093 Simple 1060504185 C . Likely benign 2 3 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-10-02 -9.0 0.6666666666666666 Benign/Likely benign 1 -414105 Simple 11537737 A . Benign/Likely benign 2 2 not specified 2017-08-02 -9.0 0.0 Benign/Likely benign 0 -414108 Simple 569636814 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-11-14 -9.0 0.3333333333333333 Benign/Likely benign 1 -414110 Simple 1038616344 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-16 -6.0 1.0 Likely benign 0 -414111 Simple 2070096 T . Benign/Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-02 -9.0 0.5 Benign/Likely benign 0 -414112 Simple 748796794 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-12-19 -5.7 1.5 Likely benign 0 -414116 Simple 1060504191 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-24 -5.7 1.5 Likely benign 0 -414122 Simple 747466434 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-21 -6.0 0.5 Likely benign 0 -414127 Simple 1060504195 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-27 -6.0 0.5 Likely benign 0 -414150 Simple 764221826 A . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-07 -9.0 0.3333333333333333 Benign/Likely benign 1 -414151 Simple 753502884 A . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2016-12-28 -8.7 1.3333333333333333 Benign/Likely benign 1 -414158 Simple 876659935 T . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-03 -8.7 1.0 Benign/Likely benign 1 -414252 Simple 143730978 T . Likely benign 2 3 Gastrointestinal stromal tumor;Paragangliomas 3;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -9.0 0.6666666666666666 Benign/Likely benign 1 -414261 Simple 1060504227 G . Likely benign 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-06-05 -6.0 0.5 Likely benign 0 -414318 Simple 28730768 A . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-05-05 -6.0 0.5 Likely benign 0 -414449 Simple 188147862 T . Benign 2 2 Epilepsy, familial focal, with variable foci 1;not specified 2017-05-30 -12.0 0.5 Benign/Likely benign 1 -414465 Simple 200653339 C . Benign 2 2 Epilepsy, familial focal, with variable foci 1;not specified 2017-05-17 -12.0 0.0 Benign/Likely benign 1 -414466 Simple 187334123 A . Benign/Likely benign 2 2 Epilepsy, familial focal, with variable foci 1;not provided 2017-09-01 -9.0 0.5 Benign/Likely benign 0 -414526 Simple 1060504260 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-09-14 -5.7 1.5 Likely benign 0 -414530 Simple 1060504263 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-20 -8.7 1.0 Benign/Likely benign 1 -414532 Simple 1060504265 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -9.0 0.3333333333333333 Benign/Likely benign 1 -414548 Simple 1060504275 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -6.0 0.0 Likely benign 0 -414555 Simple 1060504281 G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -9.0 0.3333333333333333 Benign/Likely benign 1 -414556 Simple 1060504282 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-29 -5.7 1.5 Likely benign 0 -414557 Simple 143489373 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-10-31 -6.0 1.0 Likely benign 0 -414565 Simple 1060504285 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-11 -6.0 0.5 Likely benign 0 -414569 Simple 55784207 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-06-09 -6.0 1.0 Likely benign 0 -414573 Simple 368196317 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-08-19 -5.7 1.5 Likely benign 0 -414576 Simple 1060504291 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-04-18 -5.7 1.5 Likely benign 0 -414585 Simple 572567674 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-04 -6.0 0.5 Likely benign 0 -414590 Simple 1060504299 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-12-14 -6.0 1.0 Likely benign 0 -414595 Simple 762269034 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2016-11-30 -6.0 1.0 Likely benign 0 -414598 Simple 940182945 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -9.0 0.3333333333333333 Benign/Likely benign 1 -414608 Simple 368058202 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-16 -8.7 1.0 Benign/Likely benign 1 -414617 Simple 1060504315 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-29 -6.0 0.5 Likely benign 0 -414647 Simple 55980657 A . Benign/Likely benign 2 3 Fanconi anemia;not specified 2017-04-04 -14.7 0.6666666666666666 Benign/Likely benign 0 -414653 Simple 34113138 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -414654 Simple 151224882 A . Likely benign 2 2 Fanconi anemia;not specified 2016-12-19 -6.0 1.0 Likely benign 0 -414657 Simple 1060504319 A . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-01 -6.0 1.0 Likely benign 0 -414658 Simple 144245485 G . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-22 -8.7 1.0 Benign/Likely benign 1 -414661 Simple 1060504321 C . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-26 -9.0 0.6666666666666666 Benign/Likely benign 1 -414668 Simple 747185394 - . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -9.0 0.0 Benign/Likely benign 1 -414670 Simple 1060504327 A . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-01-18 -6.0 1.0 Likely benign 0 -414671 Simple 1060504328 C . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-23 -6.0 0.5 Likely benign 0 -414677 Simple 749460936 A . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-08 -9.0 0.3333333333333333 Benign/Likely benign 1 -414683 Simple 752356873 C . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-28 -8.7 0.6666666666666666 Benign/Likely benign 1 -414685 Simple 1060504331 C . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-12-22 -5.7 1.5 Likely benign 0 -414691 Simple 751460179 T . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2016-11-22 -6.0 1.0 Likely benign 0 -414700 Simple 144273492 A . Likely benign 2 2 Fanconi anemia;not specified 2017-06-28 -6.0 0.5 Likely benign 0 -414711 Simple 200278096 C . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-06-26 -8.7 1.0 Benign/Likely benign 0 -414726 Simple 534528576 A . Likely benign 2 2 Fanconi anemia;not specified 2017-06-26 -5.7 1.0 Likely benign 0 -414732 Simple 776358416 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-01-05 -6.0 1.0 Likely benign 0 -414735 Simple 1060504345 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-20 -5.7 1.0 Likely benign 0 -414747 Simple 1060504352 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-06-05 -6.0 1.0 Likely benign 0 -414753 Simple 1060504354 - . Likely benign 2 2 Colorectal cancer 10;not specified 2017-07-21 -6.0 0.0 Likely benign 0 -414756 Simple 372269344 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-05-28 -6.0 0.5 Likely benign 0 -414757 Simple 527915939 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-23 -6.0 0.5 Likely benign 0 -414759 Simple 376473853 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-16 -5.7 1.0 Likely benign 0 -414761 Simple 1028419423 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-10-05 -5.7 1.5 Likely benign 0 -414764 Simple 1060504357 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-01-25 -6.0 1.0 Likely benign 0 -414768 Simple 760678755 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-03 -6.0 0.5 Likely benign 0 -414769 Simple 752830545 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-03-29 -5.7 1.0 Likely benign 0 -414772 Simple 753635334 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-05-23 -5.7 1.0 Likely benign 0 -414775 Simple 764364345 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-07 -6.0 0.5 Likely benign 0 -414777 Simple 376360811 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-02-23 -5.7 1.5 Likely benign 0 -414779 Simple 754793514 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-18 -5.7 1.0 Likely benign 0 -414780 Simple 200345841 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-05-16 -6.0 0.5 Likely benign 0 -414783 Simple 550836711 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-05-24 -6.0 0.5 Likely benign 0 -414788 Simple 1060504362 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-22 -6.0 0.5 Likely benign 0 -414797 Simple 746579020 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-10-21 -6.0 1.0 Likely benign 0 -414799 Simple 977829339 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-23 -5.7 1.0 Likely benign 0 -414800 Simple 757383245 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-08-04 -6.0 1.0 Likely benign 0 -414801 Simple 374926513 G . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-18 -5.7 1.0 Likely benign 0 -414803 Simple 780592984 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2016-12-13 -6.0 1.0 Likely benign 0 -414854 Simple 61753272 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2016-05-28 -9.0 1.0 Benign/Likely benign 0 -414861 Simple 149726602 C . Likely benign 2 2 Fanconi anemia;not specified 2016-07-28 -6.0 1.0 Likely benign 0 -414863 Simple 114810692 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-04-18 -9.0 0.5 Benign/Likely benign 0 -414867 Simple 148415946 T . Likely benign 2 2 Fanconi anemia;not specified 2017-01-15 -5.7 1.5 Likely benign 0 -414886 Simple 147329295 G . Benign/Likely benign 2 2 Combined oxidative phosphorylation deficiency 10;not provided 2017-06-16 -9.0 0.5 Benign/Likely benign 0 -414922 Simple 1060504383 G . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2016-10-10 -6.0 1.0 Likely benign 0 -414927 Simple 780522588 T . Likely benign 2 2 not specified;Hereditary cutaneous melanoma 2017-06-08 -6.0 0.5 Likely benign 0 -414929 Simple 1060504385 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-27 -5.7 1.0 Likely benign 0 -414932 Simple 761802581 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-16 -5.7 1.0 Likely benign 0 -414933 Simple 1060504386 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-12-26 -5.7 1.5 Likely benign 0 -414936 Simple 745384449 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-04-01 -5.7 1.5 Likely benign 0 -414940 Simple 1060504391 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-10-03 -5.7 1.5 Likely benign 0 -414941 Simple 369862952 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-11-02 -6.0 1.0 Likely benign 0 -414943 Simple 772962371 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-05 -6.0 0.5 Likely benign 0 -414945 Simple 1060504393 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-19 -6.0 0.5 Likely benign 0 -414950 Simple 762456674 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-08-19 -6.0 1.0 Likely benign 0 -414951 Simple 1060504395 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-03 -6.0 0.5 Likely benign 0 -414959 Simple 1042907420 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2016-10-03 -6.0 1.0 Likely benign 0 -414960 Simple 1060504401 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-04-08 -6.0 0.5 Likely benign 0 -414964 Simple 765162437 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-08-04 -5.7 1.0 Likely benign 0 -414968 Simple 760093523 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-18 -6.0 0.5 Likely benign 0 -414985 Simple 747730026 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-12 -5.7 1.5 Likely benign 0 -414986 Simple 1060504408 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-03 -6.0 1.0 Likely benign 0 -414992 Simple 1060504412 G . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-28 -8.7 1.0 Benign/Likely benign 1 -414997 Simple 1060504416 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-24 -6.0 1.0 Likely benign 0 -415000 Simple 587778527 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-08-14 -5.7 1.5 Likely benign 0 -415005 Simple 1060504420 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-06 -6.0 1.0 Likely benign 0 -415007 Simple 541880457 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 -6.0 0.5 Likely benign 0 -415008 Simple 766326295 T . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-11 -8.7 1.3333333333333333 Benign/Likely benign 1 -415012 Simple 4987189 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-15 -5.7 1.5 Likely benign 0 -415017 Simple 1060504425 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-26 -6.0 1.0 Likely benign 0 -415020 Simple 751250018 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-08 -6.0 1.0 Likely benign 0 -415038 Simple 371276213 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-31 -5.7 1.0 Likely benign 0 -415041 Simple 1060504429 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-09-26 -5.7 1.5 Likely benign 0 -415045 Simple 770432256 T . Likely benign 2 3 Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -9.0 0.6666666666666666 Benign/Likely benign 1 -415046 Simple 140322802 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-01 -5.7 1.5 Likely benign 0 -415047 Simple 368337504 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-12 -5.7 1.0 Likely benign 0 -415048 Simple 373048420 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-28 -6.0 0.5 Likely benign 0 -415049 Simple 754047386 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-10-21 -6.0 1.0 Likely benign 0 -415051 Simple 372329621 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-20 -5.7 1.0 Likely benign 0 -415054 Simple 1060504435 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-10-12 -6.0 1.0 Likely benign 0 -415055 Simple 567283924 A . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-08 -8.7 1.0 Benign/Likely benign 0 -415058 Simple 142995801 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-06-11 -5.7 1.5 Likely benign 0 -415059 Simple 571366505 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-08 -5.7 1.5 Likely benign 0 -415063 Simple 746733739 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-29 -5.7 1.0 Likely benign 0 -415064 Simple 763383326 A . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-21 -9.0 0.0 Benign/Likely benign 0 -415065 Simple 757358465 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-03 -6.0 0.5 Likely benign 0 -415066 Simple 369362739 G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-05 -5.7 1.0 Likely benign 0 -415067 Simple 528531511 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-05-12 -5.7 1.5 Likely benign 0 -415068 Simple 142092395 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-24 -5.7 1.0 Likely benign 0 -415069 Simple 201372858 T . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-03 -8.7 1.0 Benign/Likely benign 0 -415071 Simple 894097474 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-01 -6.0 0.5 Likely benign 0 -415075 Simple 754496173 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-20 -5.7 1.0 Likely benign 0 -415076 Simple 574844383 T . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-21 -8.7 1.0 Benign/Likely benign 0 -415077 Simple 771156293 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-08 -5.7 1.0 Likely benign 0 -415078 Simple 140328531 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-10-24 -5.7 1.5 Likely benign 0 -415079 Simple 763916022 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-16 -5.7 1.0 Likely benign 0 -415083 Simple 751166438 A . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-15 -8.7 1.0 Benign/Likely benign 0 -415084 Simple 558890921 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-24 -5.7 1.0 Likely benign 0 -415086 Simple 149562732 G . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-01 -8.7 1.0 Benign/Likely benign 0 -415087 Simple 750161079 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-13 -5.7 1.0 Likely benign 0 -415090 Simple 369866257 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-20 -5.7 1.0 Likely benign 0 -415095 Simple 778628081 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-12 -6.0 0.5 Likely benign 0 -415096 Simple 746699196 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-03 -6.0 0.5 Likely benign 0 -415100 Simple 758526064 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-10-01 -6.0 1.0 Likely benign 0 -415101 Simple 61761958 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-09-26 -5.7 1.5 Likely benign 0 -415103 Simple 367786588 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-08 -5.7 1.0 Likely benign 0 -415104 Simple 768987283 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-16 -6.0 0.0 Likely benign 0 -415105 Simple 541930013 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-30 -6.0 1.0 Likely benign 0 -415107 Simple 147314370 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-26 -5.7 1.0 Likely benign 0 -415108 Simple 765686829 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-25 -5.7 1.0 Likely benign 0 -415113 Simple 528874054 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-18 -5.7 1.0 Likely benign 0 -415115 Simple 1060504448 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-26 -6.0 0.5 Likely benign 0 -415116 Simple 765269922 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-06 -5.7 1.0 Likely benign 0 -415117 Simple 377511733 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-12 -5.7 1.0 Likely benign 0 -415118 Simple 143683859 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-08 -5.7 1.0 Likely benign 0 -415120 Simple 758181694 G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-06-21 -5.7 1.5 Likely benign 0 -415121 Simple 374499588 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-07 -5.7 1.0 Likely benign 0 -415122 Simple 1060504450 G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-30 -6.0 0.5 Likely benign 0 -415125 Simple 578260605 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-21 -5.7 1.0 Likely benign 0 -415126 Simple 995632376 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-16 -6.0 0.5 Likely benign 0 -415128 Simple 958322658 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-07-26 -6.0 1.0 Likely benign 0 -415131 Simple 140328531 G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-06-23 -6.0 1.0 Likely benign 0 -415132 Simple 568650875 A . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-02 -8.7 1.5 Benign/Likely benign 0 -415133 Simple 547236594 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-12-11 -5.7 1.5 Likely benign 0 -415135 Simple 528157497 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-09-20 -5.7 1.5 Likely benign 0 -415138 Simple 1060504458 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-19 -6.0 0.5 Likely benign 0 -415142 Simple 762449855 T . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -415143 Simple 1060504461 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-12-15 -5.7 1.5 Likely benign 0 -415144 Simple 939033260 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-15 -5.7 1.0 Likely benign 0 -415145 Simple 115992445 T . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-08 -8.7 1.0 Benign/Likely benign 0 -415146 Simple 1034540403 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-07 -5.7 1.0 Likely benign 0 -415147 Simple 1060504462 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-08-13 -5.7 1.5 Likely benign 0 -415150 Simple 760653330 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-28 -5.7 1.0 Likely benign 0 -415153 Simple 377275724 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-12 -5.7 1.5 Likely benign 0 -415154 Simple 1060504465 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-05-13 -5.7 1.5 Likely benign 0 -415157 Simple 138878490 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-01 -5.7 1.0 Likely benign 0 -415158 Simple 773341135 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-05-09 -6.0 1.0 Likely benign 0 -415159 Simple 143160246 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-19 -5.7 1.0 Likely benign 0 -415160 Simple 370590601 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-10 -5.7 1.0 Likely benign 0 -415161 Simple 1060504466 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-30 -6.0 1.0 Likely benign 0 -415163 Simple 758884930 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-07 -6.0 0.5 Likely benign 0 -415164 Simple 750556885 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-11-09 -5.7 1.5 Likely benign 0 -415165 Simple 573885719 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-04 -5.7 1.0 Likely benign 0 -415166 Simple 373168068 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-23 -6.0 0.5 Likely benign 0 -415168 Simple 144841907 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-27 -5.7 1.0 Likely benign 0 -415171 Simple 1060504468 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2016-06-20 -6.0 1.0 Likely benign 0 -415172 Simple 200419334 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-23 -5.7 1.5 Likely benign 0 -415174 Simple 770111702 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-03 -6.0 0.5 Likely benign 0 -415189 Simple 571969199 A . Benign/Likely benign 2 2 Acute myeloid leukemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -415195 Simple 550308123 C . Benign/Likely benign 2 2 Acute myeloid leukemia;not specified 2017-08-14 -9.0 0.5 Benign/Likely benign 0 -415197 Simple 141430731 T . Benign 2 2 Acute myeloid leukemia;not specified 2017-08-14 -12.0 0.5 Benign/Likely benign 1 -415272 Simple 61754632 T . Benign 2 2 Wilms tumor 1;not specified 2017-08-14 -12.0 0.5 Benign/Likely benign 1 -415323 Simple 758999145 T . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2016-08-22 -6.0 1.0 Likely benign 0 -415324 Simple 1060504509 - . Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-03-23 -6.0 0.5 Likely benign 0 -415335 Simple 17540624 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-06-20 -8.7 1.0 Benign/Likely benign 0 -415348 Simple 376875762 T . Likely benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-01-09 -6.0 1.0 Likely benign 0 -415447 Simple 373846823 T . Likely benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not provided 2017-06-30 -6.0 0.5 Likely benign 0 -415467 Simple 369760318 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-03-30 -6.0 0.0 Likely benign 0 -415469 Simple 201595274 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -6.0 0.5 Likely benign 0 -415470 Simple 775292833 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-04-29 -6.0 0.0 Likely benign 0 -415472 Simple 151266988 T . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 -6.0 0.5 Likely benign 0 -415476 Simple 368564259 T . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-09-20 -6.0 0.0 Likely benign 0 -415477 Simple 139086753 G . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-09-18 -6.0 0.5 Likely benign 0 -415488 Simple 369083374 C . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -6.0 0.5 Likely benign 0 -415492 Simple 140542305 T . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -6.0 0.0 Likely benign 0 -415520 Simple 775642346 AA . Likely benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-07-31 -6.0 0.5 Likely benign 0 -415528 Simple 147236778 G . Benign 2 2 Mast syndrome;not specified 2016-12-29 -12.0 1.0 Benign/Likely benign 1 -415533 Simple 148949069 T . Benign/Likely benign 2 2 Neuronal ceroid lipofuscinosis;not specified 2016-10-28 -9.0 1.0 Benign/Likely benign 0 -415555 Simple 754763517 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -415556 Simple 1060504560 T . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-12 -6.0 1.0 Likely benign 0 -415558 Simple 771076131 A . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-16 -8.4 1.3333333333333333 Benign/Likely benign 1 -415569 Simple 748923729 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -415570 Simple 1060504567 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-11-15 -6.0 1.0 Likely benign 0 -415574 Simple 761424661 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.6666666666666666 Benign/Likely benign 1 -415578 Simple . AA . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-08-02 -5.7 1.5 Likely benign 0 -415580 Simple 200521980 C . Likely benign 3 4 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.5 Benign/Likely benign 1 -415584 Simple 1060504578 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-21 -5.7 1.5 Likely benign 0 -415587 Simple 745321499 T . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -415610 Simple 759503601 G . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-24 -6.0 0.0 Likely benign 0 -415620 Simple 200350612 T . Benign/Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2016-10-26 -8.7 1.5 Benign/Likely benign 0 -415622 Simple 145004158 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-15 -5.7 1.0 Likely benign 0 -415623 Simple 147554296 T . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2016-12-12 -6.0 1.0 Likely benign 0 -415627 Simple 754710935 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-04-16 -5.7 1.0 Likely benign 0 -415636 Simple 1060504601 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -415641 Simple 772146565 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -415642 Simple 950724350 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-23 -5.7 1.0 Likely benign 0 -415644 Simple 749039580 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -415648 Simple 753503094 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.6666666666666666 Benign/Likely benign 1 -415654 Simple 147854265 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-26 -6.0 0.5 Likely benign 0 -415657 Simple 1060504612 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-10 -6.0 0.5 Likely benign 0 -415658 Simple 1060504613 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -415663 Simple 757731214 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -415670 Simple 1060504597 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2016-07-26 -5.4 2.0 Likely benign 0 -415676 Simple 760593257 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -415680 Simple 769652613 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -415684 Simple 587781421 T . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-10 -6.0 0.5 Likely benign 0 -415685 Simple 1060504628 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-09-19 -5.7 1.5 Likely benign 0 -415692 Simple 771131099 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -415696 Simple 1060504637 T . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-12-06 -6.0 1.0 Likely benign 0 -415702 Simple 752309823 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -415704 Simple 1064792995 GAATTATATC . Benign/Likely benign 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-07-24 -8.7 1.0 Benign/Likely benign 0 -415705 Simple 773973434 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -415707 Simple 80359811 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -415733 Simple 192492405 G . Benign/Likely benign 2 2 not specified;not provided 2017-02-22 -9.0 1.0 Benign/Likely benign 0 -415741 Simple 372199352 A . Likely benign 2 2 Fanconi anemia;Hereditary cancer-predisposing syndrome 2017-05-12 -6.0 0.5 Likely benign 0 -415748 Simple 747240016 GCGCCCACCCCTCCAGCT . Likely benign 2 2 Joubert syndrome;not specified 2016-06-18 -6.0 1.0 Likely benign 0 -415761 Simple 768346816 A . Likely benign 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-03-15 -6.0 0.5 Likely benign 0 -415842 Simple 1060504672 G . Likely benign 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-06-14 -6.0 0.5 Likely benign 0 -415931 Simple 1060504695 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-09-21 -6.0 1.0 Likely benign 0 -415933 Simple 1060504697 T . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-28 -8.7 0.6666666666666666 Benign/Likely benign 1 -415948 Simple 62034095 T . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-07-13 -6.0 0.5 Likely benign 0 -415976 Simple 748363227 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-14 -8.7 1.0 Benign/Likely benign 1 -415979 Simple 1060504705 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-16 -5.7 1.0 Likely benign 0 -415981 Simple 775283927 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-11 -8.7 1.0 Benign/Likely benign 1 -415985 Simple 995715653 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-11-08 -5.7 1.5 Likely benign 0 -415987 Simple 757036149 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-21 -9.0 0.3333333333333333 Benign/Likely benign 1 -415991 Simple 1060504714 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-10-30 -6.0 1.0 Likely benign 0 -415993 Simple 1039677524 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-10 -6.0 0.5 Likely benign 0 -415995 Simple 1060504716 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-09-27 -6.0 1.0 Likely benign 0 -415997 Simple 1060504717 G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2016-08-09 -5.7 1.5 Likely benign 0 -416090 Simple 202117737 A . Benign 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-06-23 -12.0 0.5 Benign/Likely benign 1 -416134 Simple 764244124 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -8.7 0.6666666666666666 Benign/Likely benign 1 -416135 Simple 1060504739 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-05 -6.0 1.0 Likely benign 0 -416138 Simple 777678406 T . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-26 -5.7 1.5 Likely benign 0 -416148 Simple 765289515 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-20 -6.0 1.0 Likely benign 0 -416149 Simple 752239740 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-11 -8.7 1.0 Benign/Likely benign 1 -416152 Simple 1060504747 G . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-04-28 -8.7 1.0 Benign/Likely benign 1 -416154 Simple 1060504749 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-31 -6.0 0.5 Likely benign 0 -416158 Simple 1060504751 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -5.7 1.0 Likely benign 0 -416159 Simple 1055190211 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-08 -5.7 1.5 Likely benign 0 -416162 Simple 371568610 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-23 -6.0 1.0 Likely benign 0 -416163 Simple 137946937 C . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-12 -5.7 1.5 Likely benign 0 -416164 Simple 781019496 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-24 -6.0 1.0 Likely benign 0 -416166 Simple 56132616 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-27 -6.0 1.0 Likely benign 0 -416172 Simple 1001812170 C . Likely benign 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-09-19 -12.0 0.75 Benign/Likely benign 1 -416174 Simple 1060504758 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-01 -9.0 0.6666666666666666 Benign/Likely benign 1 -416176 Simple 1060504760 G . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-12-24 -5.4 2.0 Likely benign 0 -416177 Simple 767325893 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-02 -8.7 0.6666666666666666 Benign/Likely benign 1 -416178 Simple 786202626 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -416179 Simple 753675331 T . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-09-09 -8.7 1.3333333333333333 Benign/Likely benign 1 -416180 Simple 774303198 A . Likely benign 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-19 -11.7 0.75 Benign/Likely benign 1 -416181 Simple 863224331 A . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-07-26 -8.7 1.3333333333333333 Benign/Likely benign 1 -416184 Simple 1060504762 TTCTTTTCTT . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-11-01 -6.0 0.0 Likely benign 0 -416195 Simple 145452047 A . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-09-07 -6.0 0.5 Likely benign 0 -416196 Simple 751885496 A . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-08-31 -6.0 1.0 Likely benign 0 -416197 Simple 368209468 A . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-07-31 -6.0 0.5 Likely benign 0 -416205 Simple 746929682 A . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-01-26 -6.0 1.0 Likely benign 0 -416209 Simple 146370762 G . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-04 -9.0 1.0 Benign/Likely benign 0 -416212 Simple 150417178 C . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-18 -9.0 1.0 Benign/Likely benign 0 -416213 Simple 557604978 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-29 -6.0 1.0 Likely benign 0 -416215 Simple 1060504772 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -6.0 0.5 Likely benign 0 -416216 Simple 16917929 G . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-23 -12.0 1.0 Benign/Likely benign 1 -416220 Simple 140471094 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-12 -6.0 0.5 Likely benign 0 -416221 Simple 79574929 A . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-18 -12.0 1.0 Benign/Likely benign 1 -416222 Simple 150946638 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-23 -6.0 1.0 Likely benign 0 -416223 Simple 35616709 T . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -416224 Simple 191834824 G . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-03 -6.0 0.5 Likely benign 0 -416245 Simple 113858060 C . Benign/Likely benign 2 2 Kohlschutter's syndrome;not provided 2017-08-03 -9.0 0.0 Benign/Likely benign 0 -416283 Simple 1060504786 T . Likely benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2016-10-11 -6.0 1.0 Likely benign 0 -416321 Simple 145934279 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 1;Hereditary cancer-predisposing syndrome 2017-06-26 -6.0 0.0 Likely benign 0 -416324 Simple 138184483 T . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 1;Hereditary cancer-predisposing syndrome 2017-08-03 -9.0 0.5 Benign/Likely benign 0 -416328 Simple 117084604 A . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 1;Hereditary cancer-predisposing syndrome 2017-06-15 -9.0 0.5 Benign/Likely benign 0 -416367 Simple 139301257 T . Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified 2016-06-25 -5.7 1.5 Likely benign 0 -416368 Simple 1060504803 - . Benign/Likely benign 2 2 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified 2017-08-11 -9.0 0.0 Benign/Likely benign 0 -416487 Simple 375751988 T . Likely benign 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-07-10 -6.0 0.0 Likely benign 0 -416489 Simple 143948310 G . Benign/Likely benign 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-06-14 -9.0 0.5 Benign/Likely benign 0 -416495 Simple 578226820 C . Likely benign 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-07-27 -6.0 0.0 Likely benign 0 -416537 Simple 72934809 T . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-08-14 -12.0 0.0 Benign/Likely benign 1 -416557 Simple 766309532 T . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-03-28 -8.4 1.3333333333333333 Benign/Likely benign 1 -416562 Simple 1060504841 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-02-14 -6.0 1.0 Likely benign 0 -416563 Simple 1060504842 G . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-01-13 -9.0 1.0 Benign/Likely benign 1 -416569 Simple 767414243 A . Likely benign 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-10-01 -5.7 1.5 Likely benign 0 -416610 Simple 200381474 T . Benign 2 2 Hereditary pancreatitis;not specified 2017-05-25 -12.0 0.5 Benign/Likely benign 1 -416616 Simple 757159382 G . Likely benign 2 2 SeSAME syndrome;not specified 2017-05-31 -6.0 0.5 Likely benign 0 -416618 Simple 139588879 T . Benign/Likely benign 2 2 Dyskeratosis congenita;not specified 2017-07-25 -8.7 1.0 Benign/Likely benign 0 -416639 Simple 79325774 T . Benign 2 2 not provided;Spastic paraplegia 2017-07-26 -12.0 0.5 Benign/Likely benign 1 -416646 Simple 767514820 C . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-15 -6.0 0.5 Likely benign 0 -416648 Simple 774980129 A . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2016-12-02 -6.0 1.0 Likely benign 0 -416655 Simple 755226092 G . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-05-23 -5.7 1.0 Likely benign 0 -416660 Simple 377196837 A . Benign/Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-30 -9.0 0.5 Benign/Likely benign 0 -416684 Simple 118203608 A . Benign/Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-17 -9.0 0.5 Benign/Likely benign 0 -416685 Simple 368317116 A . Benign/Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -416714 Simple 367782881 A . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-24 -8.7 1.0 Benign/Likely benign 1 -416718 Simple 201992951 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-16 -5.4 2.0 Likely benign 0 -416719 Simple 746581330 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-15 -8.7 1.0 Benign/Likely benign 1 -416721 Simple 1060504872 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-17 -6.0 0.5 Likely benign 0 -416726 Simple 1060504876 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-31 -6.0 0.5 Likely benign 0 -416727 Simple 765309567 T . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-11 -8.7 1.3333333333333333 Benign/Likely benign 1 -416740 Simple 369899251 A . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-16 -9.0 0.6666666666666666 Benign/Likely benign 1 -416741 Simple 1060504882 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-10-31 -9.0 1.0 Benign/Likely benign 1 -416742 Simple 564651232 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-10 -6.0 0.5 Likely benign 0 -416743 Simple 770869007 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-12 -8.4 1.3333333333333333 Benign/Likely benign 1 -416748 Simple 1060504886 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-12-29 -6.0 1.0 Likely benign 0 -416749 Simple 1060504887 T . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-06-24 -5.7 1.5 Likely benign 0 -416753 Simple 767286063 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -416756 Simple 1060504890 A . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-11-26 -8.7 1.3333333333333333 Benign/Likely benign 1 -416757 Simple 761821491 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -8.7 1.0 Benign/Likely benign 1 -416764 Simple 1060504894 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-07-10 -6.0 1.0 Likely benign 0 -416765 Simple 144655979 T . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -416766 Simple 762146761 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-09 -9.0 0.6666666666666666 Benign/Likely benign 1 -416767 Simple 1060504895 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2016-08-08 -6.0 1.0 Likely benign 0 -416771 Simple 768123840 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -416780 Simple 145406441 C . Benign/Likely benign 2 2 Mental retardation, autosomal dominant 5;not specified 2016-12-20 -8.7 1.5 Benign/Likely benign 0 -416795 Simple 140191819 T . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-15 -6.0 0.5 Likely benign 0 -416796 Simple 144511254 G . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2016-08-19 -5.7 1.5 Likely benign 0 -416800 Simple 765437517 C . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-01 -6.0 0.0 Likely benign 0 -416805 Simple 765437517 A . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-08-21 -6.0 0.0 Likely benign 0 -416807 Simple 764466269 G . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-12-13 -5.7 1.5 Likely benign 0 -416811 Simple 758796892 T . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2016-08-04 -9.0 1.0 Benign/Likely benign 1 -416813 Simple 1060504910 G . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-01-06 -6.0 1.0 Likely benign 0 -416832 Simple 78827970 G . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-06-26 -9.0 0.0 Benign/Likely benign 0 -416834 Simple 61753111 C . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-04-06 -9.0 0.5 Benign/Likely benign 0 -416885 Simple 1060504928 A . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-09-30 -6.0 1.0 Likely benign 0 -416887 Simple 760586161 G . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-12-23 -6.0 1.0 Likely benign 0 -416889 Simple 761492204 T . Likely benign 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2016-09-20 -5.7 1.5 Likely benign 0 -416891 Simple 887413615 T . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-13 -9.0 0.3333333333333333 Benign/Likely benign 1 -416926 Simple 200494620 T . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-11-17 -5.7 1.5 Likely benign 0 -416946 Simple 753757242 T . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2016-12-29 -5.4 2.0 Likely benign 0 -416947 Simple 55755322 G . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-02-01 -6.0 1.0 Likely benign 0 -416961 Simple 41312024 A . Benign 2 2 not specified 2017-06-30 -12.0 0.5 Benign/Likely benign 1 -416970 Simple 139486476 A . Benign/Likely benign 2 2 not specified;not provided 2017-08-31 -9.0 0.5 Benign/Likely benign 0 -416990 Simple 773556807 T . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-04-15 -5.7 1.0 Likely benign 0 -417046 Simple 199678028 G . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -417047 Simple 765677895 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 -6.0 0.5 Likely benign 0 -417048 Simple 747210633 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -6.0 0.0 Likely benign 0 -417051 Simple 769490774 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-21 -6.0 0.5 Likely benign 0 -417052 Simple 766461716 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-03-21 -6.0 0.5 Likely benign 0 -417053 Simple 773509809 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-05 -6.0 0.0 Likely benign 0 -417054 Simple 376515225 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 -6.0 0.5 Likely benign 0 -417055 Simple 755199154 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-10 -6.0 0.0 Likely benign 0 -417060 Simple 142193936 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-14 -6.0 0.0 Likely benign 0 -417062 Simple 370897400 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-03-29 -6.0 0.5 Likely benign 0 -417063 Simple 773822569 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -6.0 0.0 Likely benign 0 -417064 Simple 781156066 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -6.0 0.5 Likely benign 0 -417067 Simple 1060504965 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -6.0 0.5 Likely benign 0 -417068 Simple 757430396 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -6.0 0.5 Likely benign 0 -417072 Simple 191567701 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -6.0 0.5 Likely benign 0 -417074 Simple 1060504968 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-02-20 -6.0 1.0 Likely benign 0 -417075 Simple 372592852 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 -6.0 0.0 Likely benign 0 -417077 Simple 1060504969 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-10 -6.0 0.5 Likely benign 0 -417078 Simple 776143079 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-21 -6.0 0.0 Likely benign 0 -417083 Simple 745795376 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-15 -6.0 0.5 Likely benign 0 -417086 Simple 368558276 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-28 -6.0 0.0 Likely benign 0 -417089 Simple 867768809 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -6.0 0.5 Likely benign 0 -417091 Simple 747735065 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -6.0 0.5 Likely benign 0 -417097 Simple 771049445 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 -6.0 0.0 Likely benign 0 -417100 Simple 759875628 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-17 -6.0 0.0 Likely benign 0 -417102 Simple 759827733 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -6.0 0.0 Likely benign 0 -417103 Simple 370551656 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-24 -6.0 0.5 Likely benign 0 -417104 Simple 751563281 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-29 -6.0 0.5 Likely benign 0 -417113 Simple 201415999 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -6.0 0.5 Likely benign 0 -417119 Simple 372581591 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -6.0 0.0 Likely benign 0 -417125 Simple 373715574 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-21 -6.0 0.0 Likely benign 0 -417126 Simple 1060504987 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-15 -6.0 0.5 Likely benign 0 -417130 Simple 150087634 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-26 -6.0 0.0 Likely benign 0 -417131 Simple 765113010 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-24 -6.0 0.0 Likely benign 0 -417132 Simple 750568225 C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-11 -6.0 0.5 Likely benign 0 -417136 Simple 886943453 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -6.0 0.0 Likely benign 0 -417137 Simple 967583633 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-03-24 -6.0 0.0 Likely benign 0 -417139 Simple 757094384 A . Benign/Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-03 -9.0 0.0 Benign/Likely benign 0 -417145 Simple 138354622 T . Benign/Likely benign 2 3 Neurofibromatosis, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -15.0 0.3333333333333333 Benign/Likely benign 0 -417147 Simple 765223726 T . Likely benign 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2016-12-08 -6.0 1.0 Likely benign 0 -417150 Simple 148776784 T . Benign/Likely benign 2 3 Neurofibromatosis, type 2;not specified;Hereditary cancer-predisposing syndrome 2017-04-04 -15.0 0.3333333333333333 Benign/Likely benign 0 -417153 Simple 371270318 A . Benign/Likely benign 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-07-24 -9.0 0.0 Benign/Likely benign 0 -417154 Simple 144628209 G . Likely benign 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-07-10 -6.0 0.5 Likely benign 0 -417214 Simple 143780942 G . Benign/Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-04-17 -9.0 0.5 Benign/Likely benign 0 -417216 Simple 762968242 T . Likely benign 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-07-11 -6.0 0.5 Likely benign 0 -417225 Simple 775040765 C . Benign 3 2 Rasopathy 2017-04-18 -9.6 0.5 Benign/Likely benign 1 -417229 Simple 758252610 A . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-04-15 -5.7 1.0 Likely benign 0 -417231 Simple 181278759 G . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 0.5 Likely benign 0 -417241 Simple 187540602 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2016-11-28 -6.0 1.0 Likely benign 0 -417242 Simple 141874250 A . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-08-01 -6.0 0.5 Likely benign 0 -417246 Simple 201341132 A . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-04-27 -6.0 0.5 Likely benign 0 -417248 Simple 190477316 A . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-02-10 -6.0 1.0 Likely benign 0 -417250 Simple 1060505007 C . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2016-12-11 -6.0 1.0 Likely benign 0 -417251 Simple 898003329 A . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-04 -6.0 0.5 Likely benign 0 -417252 Simple 746453879 A . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-12-02 -6.0 0.0 Likely benign 0 -417254 Simple 551497992 C . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-06-19 -5.7 1.0 Likely benign 0 -417255 Simple 747249998 C . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2016-12-11 -5.7 1.5 Likely benign 0 -417258 Simple 746083858 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-04-27 -5.7 1.0 Likely benign 0 -417259 Simple 376530094 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-01-30 -6.0 1.0 Likely benign 0 -417260 Simple 764307917 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-01-30 -6.0 1.0 Likely benign 0 -417272 Simple 200953639 A . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-07 -8.7 1.0 Benign/Likely benign 1 -417275 Simple 755110121 A . Likely benign 2 2 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-05-31 -6.0 0.5 Likely benign 0 -417277 Simple 756217463 A . Benign/Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 1.0 Benign/Likely benign 0 -417279 Simple 375700254 A . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-04-11 -8.7 1.0 Benign/Likely benign 1 -417280 Simple 138180791 A . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2016-10-28 -8.7 1.3333333333333333 Benign/Likely benign 1 -417281 Simple 200787553 T . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-05-26 -8.7 1.0 Benign/Likely benign 1 -417283 Simple 200194082 A . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-28 -9.0 0.6666666666666666 Benign/Likely benign 1 -417285 Simple 762742357 T . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2016-08-29 -9.0 1.0 Benign/Likely benign 1 -417288 Simple 774348167 T . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-09-18 -9.0 0.3333333333333333 Benign/Likely benign 1 -417291 Simple 202038162 C . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-06-15 -9.0 0.6666666666666666 Benign/Likely benign 1 -417292 Simple 202170860 A . Benign/Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-20 -14.7 1.0 Benign/Likely benign 0 -417302 Simple 199809975 A . Likely benign 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-07-28 -6.0 0.5 Likely benign 0 -417369 Simple . . . Pathogenic 2 3 Familial hypercholesterolemia 2016-07-04 16.8 1.6666666666666667 Pathogenic 0 -417525 Simple . . . Pathogenic 2 1 Lynch syndrome 2016-05-12 . 1.0 . 0 -417625 Simple 917070773 A . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease type C1 2016-09-16 9.0 1.0 Pathogenic/Likely pathogenic 0 -417784 Simple 1060505041 T . Pathogenic 2 2 not provided;Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 2017-09-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -417825 Simple 80357600 TT . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-02-26 10.8 2.0 Pathogenic/Likely pathogenic 1 -417827 Simple 1060505048 - . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-02-26 10.8 2.0 Pathogenic/Likely pathogenic 1 -417831 Simple 1060505051 - . Pathogenic 2 1 Breast-ovarian cancer, familial 1;Neoplasm of the breast 2016-02-01 . 2.0 . 0 -417832 Simple 863224765 A . Likely pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2016-03-10 5.4 2.0 Likely pathogenic 0 -417834 Simple 1060505053 . . Pathogenic 2 2 Breast-ovarian cancer, familial 1;not provided 2017-01-01 12.0 1.0 Pathogenic/Likely pathogenic 1 -417981 Simple 1064793006 G . Likely pathogenic 2 2 not provided 2017-06-30 5.4 1.5 Likely pathogenic 0 -418005 Simple 1064793020 - . Pathogenic 2 3 Familial adenomatous polyposis 1;not provided;Hereditary cancer-predisposing syndrome 2017-05-16 15.6 2.0 Pathogenic 0 -418009 Simple 781364007 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -0.6 1.0 Uncertain significance 0 -418011 Simple 777568434 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-22 -0.6 0.5 Uncertain significance 0 -418012 Simple 769504783 G . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -1.14 0.75 Uncertain significance 0 -418014 Simple 757633174 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-02-23 -0.8999999999999999 1.0 Uncertain significance 0 -418022 Simple 1064793030 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-04-09 -0.54 1.5 Uncertain significance 0 -418025 Simple 1064793032 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -418032 Simple 917721053 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418035 Simple 587781390 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-15 -0.54 2.0 Uncertain significance 0 -418036 Simple 587778077 AA . Pathogenic 2 2 Ataxia-telangiectasia syndrome;not specified;not provided 2017-02-22 10.8 2.0 Pathogenic/Likely pathogenic 1 -418044 Simple 779400418 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-06-05 -0.6 0.5 Uncertain significance 0 -418049 Simple 767507047 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418055 Simple 748632114 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-10 -0.54 1.5 Uncertain significance 0 -418066 Simple 1064793054 AGA . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-23 12.0 0.5 Pathogenic/Likely pathogenic 1 -418074 Simple 1064793060 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.54 1.5 Uncertain significance 0 -418085 Simple 959089047 G . Uncertain significance 2 4 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -1.14 0.75 Uncertain significance 0 -418090 Simple 81002812 C . Likely pathogenic 2 4 Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome 2017-02-21 12.0 1.0 Pathogenic/Likely pathogenic 1 -418097 Simple 781556845 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.84 1.3333333333333333 Uncertain significance 0 -418098 Simple 1007808618 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-13 -0.54 2.0 Uncertain significance 0 -418099 Simple 1064793073 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -0.54 2.0 Uncertain significance 0 -418109 Simple 779508996 A . Pathogenic 2 2 Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided 2017-11-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -418113 Simple 578069093 T . Uncertain significance 2 4 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-04-01 -1.2 0.75 Uncertain significance 0 -418114 Simple 767159815 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.5 Uncertain significance 0 -418121 Simple 559848002 C . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-30 5.4 1.5 Likely pathogenic 0 -418122 Simple 184018899 T . Uncertain significance 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified 2017-02-15 -0.6 1.0 Uncertain significance 0 -418127 Simple 779607427 T . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-25 -0.84 1.0 Uncertain significance 0 -418131 Simple . GG . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-08-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -418159 Simple 41297016 A . Uncertain significance 2 2 Severe combined immunodeficiency with sensitivity to ionizing radiation;not specified 2017-08-07 -0.6 0.5 Uncertain significance 0 -418169 Simple 368703304 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-08-17 -0.6 0.0 Uncertain significance 0 -418176 Simple 753747037 GGCGGC . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type I;not specified 2017-06-19 -0.6 0.0 Uncertain significance 0 -418180 Simple 200599820 A . Uncertain significance 2 2 not specified 2017-01-17 -0.6 1.0 Uncertain significance 0 -418213 Simple 1064793128 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-11 12.0 0.0 Pathogenic/Likely pathogenic 1 -418217 Simple 149216939 G . Uncertain significance 2 2 Cerebral folate deficiency;not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -418235 Simple 201141455 - . Benign 2 2 Hyperinsulinism-hyperammonemia syndrome;not specified 2017-06-29 -11.4 1.0 Benign/Likely benign 1 -418275 Simple 1064793161 T . Pathogenic 2 2 Mental retardation, autosomal dominant 9;not provided 2017-08-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -418292 Simple 1060503789 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-18 12.0 0.0 Pathogenic/Likely pathogenic 1 -418293 Simple 1064793169 G . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-06 6.0 1.0 Likely pathogenic 0 -418300 Simple 769958855 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-31 -0.84 1.6666666666666667 Uncertain significance 0 -418304 Simple 780221881 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.87 0.6666666666666666 Uncertain significance 0 -418314 Simple 144288433 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-24 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418317 Simple 771426932 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -0.54 2.0 Uncertain significance 0 -418318 Simple 1064793182 TGGGCCTGGGCC . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-03-16 -0.6 0.5 Uncertain significance 0 -418320 Simple 1064793184 G . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-10-07 -0.6 0.0 Uncertain significance 0 -418323 Simple 1064793187 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-31 -0.54 1.5 Uncertain significance 0 -418325 Simple 1064793188 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.0 Uncertain significance 0 -418326 Simple 1064793189 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.6 0.5 Uncertain significance 0 -418327 Simple 1064793190 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-13 -0.54 2.0 Uncertain significance 0 -418334 Simple 765098678 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-02 -0.54 2.0 Uncertain significance 0 -418370 Simple 1064793210 - . Pathogenic/Likely pathogenic 2 3 Microcephaly, normal intelligence and immunodeficiency;not provided;Hereditary cancer-predisposing syndrome 2017-04-05 15.0 0.6666666666666666 Pathogenic 1 -418376 Simple 1064793213 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-03-29 -0.6 0.5 Uncertain significance 0 -418394 Simple 1064793221 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-03 -0.54 2.0 Uncertain significance 0 -418396 Simple 753124503 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418417 Simple 1064793234 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-02-25 10.2 2.5 Pathogenic/Likely pathogenic 1 -418419 Simple 1064793236 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-12 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418420 Simple 762206330 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -0.84 1.0 Uncertain significance 0 -418434 Simple 876658153 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-04 10.8 2.0 Pathogenic/Likely pathogenic 1 -418436 Simple 1064793243 C . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2014-12-01 7.199999999999999 3.0 Likely pathogenic 1 -418438 Simple 863224666 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -0.51 2.5 Uncertain significance 0 -418439 Simple 370064195 T . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-12-01 -0.87 0.6666666666666666 Uncertain significance 0 -418441 Simple 767796996 C . Likely pathogenic 2 4 Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-11-28 12.0 0.25 Pathogenic/Likely pathogenic 1 -418444 Simple 1064793246 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;not specified 2017-04-09 -0.54 1.5 Uncertain significance 0 -418454 Simple 372048968 G . Uncertain significance 2 3 Dilated cardiomyopathy 1DD;not specified 2017-08-09 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -418466 Simple 1064793257 - . Pathogenic 2 2 not provided;Townes syndrome 2017-05-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -418468 Simple 142392473 T . Uncertain significance 2 2 Progressive myoclonic epilepsy;not specified 2017-06-22 -0.6 0.0 Uncertain significance 0 -418471 Simple 375940680 A . Uncertain significance 2 3 Brugada syndrome;not specified;Sodium channelopathy-related small fiber neuropathy 2017-08-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418517 Simple 876660825 A . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified 2017-06-07 -0.54 1.5 Uncertain significance 0 -418554 Simple 1064793300 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-06 -0.6 1.0 Uncertain significance 0 -418556 Simple 760737807 GG . Likely benign 2 2 Tuberous sclerosis 1;not specified 2017-06-19 -6.0 0.5 Likely benign 0 -418560 Simple 80358622 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-02-08 -0.6 1.0 Uncertain significance 0 -418576 Simple 776093527 C . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -1.2 0.5 Uncertain significance 0 -418585 Simple 747286104 T . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-06-23 -0.6 0.5 Uncertain significance 0 -418603 Simple 757253682 T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2017-07-11 -0.6 0.0 Uncertain significance 0 -418609 Simple 1064793322 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -418610 Simple 760190301 GTTAGTTA . Pathogenic 2 4 not provided;Hereditary cancer-predisposing syndrome 2017-06-15 24.0 0.75 Pathogenic 0 -418613 Simple 1064793324 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-04-16 -0.54 1.5 Uncertain significance 0 -418625 Simple 193922376 G . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-03-27 -0.6 0.5 Uncertain significance 0 -418642 Simple 139785364 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-05 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -418643 Simple 753617680 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -418644 Simple 754056526 C . Uncertain significance 2 2 not specified 2017-03-31 -0.54 1.5 Uncertain significance 0 -418646 Simple 1064793339 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-26 -0.5700000000000001 1.5 Uncertain significance 0 -418649 Simple 1064793342 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -0.87 0.6666666666666666 Uncertain significance 0 -418659 Simple 375554612 - . Pathogenic 2 2 not provided 2017-06-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -418671 Simple 1064793357 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-12 -0.5700000000000001 1.5 Uncertain significance 0 -418680 Simple 876659320 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -418684 Simple 431825355 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-20 -0.5700000000000001 1.5 Uncertain significance 0 -418691 Simple 1064793369 AATCA . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-09 -0.5700000000000001 1.5 Uncertain significance 0 -418693 Simple 201382018 T . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418714 Simple 63750409 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-11-06 -0.6 0.0 Uncertain significance 0 -418721 Simple 140375681 A . Uncertain significance 2 2 Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r 2017-06-23 -0.6 0.5 Uncertain significance 0 -418722 Simple 63750287 G . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-05-05 -1.17 0.75 Uncertain significance 0 -418728 Simple 267607886 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-08 -0.87 1.0 Uncertain significance 0 -418742 Simple 1064793402 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -418743 Simple 1064793403 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418756 Simple 149116878 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-29 -0.5700000000000001 1.0 Uncertain significance 0 -418758 Simple 143277125 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-25 -1.2 0.25 Uncertain significance 0 -418763 Simple 746231785 A . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418764 Simple 373270404 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-10-16 -0.6 0.5 Uncertain significance 0 -418768 Simple 1064793419 TT . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2017-02-24 8.4 1.5 Pathogenic/Likely pathogenic 0 -418772 Simple 751249745 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-24 -1.17 0.75 Uncertain significance 0 -418775 Simple 1064793424 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-19 -0.5700000000000001 1.0 Uncertain significance 0 -418777 Simple 938431501 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-22 -0.5700000000000001 1.5 Uncertain significance 0 -418792 Simple 747056590 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.0 Uncertain significance 0 -418793 Simple 587782665 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -418800 Simple 767747402 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-07-20 -0.87 1.3333333333333333 Uncertain significance 0 -418806 Simple 1064793445 . . Likely benign 2 2 not specified 2017-01-09 -5.7 1.5 Likely benign 0 -418835 Simple 536557651 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-11-21 -1.17 0.75 Uncertain significance 0 -418840 Simple 1044092081 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -418842 Simple 1064793470 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-05-04 -0.5700000000000001 1.0 Uncertain significance 0 -418845 Simple 1064793471 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-25 11.4 1.0 Pathogenic/Likely pathogenic 1 -418846 Simple 1064793472 - . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-05-03 -6.0 0.5 Likely benign 0 -418851 Simple 769360577 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-20 -0.87 0.6666666666666666 Uncertain significance 0 -418852 Simple 550462055 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-03 -0.6 1.0 Uncertain significance 0 -418854 Simple 749727182 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -0.87 1.0 Uncertain significance 0 -418856 Simple 773166130 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-06-22 -0.6 0.5 Uncertain significance 0 -418860 Simple 146609763 T . Uncertain significance 2 2 not specified 2017-02-16 -0.5700000000000001 1.5 Uncertain significance 0 -418872 Simple 1064793489 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-08-23 8.4 1.5 Pathogenic/Likely pathogenic 0 -418889 Simple 545435120 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-04-21 -0.5700000000000001 1.0 Uncertain significance 0 -418901 Simple 1064793511 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-03-13 -0.6 0.5 Uncertain significance 0 -418904 Simple 1064793513 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.5 Uncertain significance 0 -418911 Simple 1064793518 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-12-30 12.0 1.0 Pathogenic/Likely pathogenic 1 -418912 Simple 1064793519 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -418914 Simple 1064793520 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.87 1.0 Uncertain significance 0 -418915 Simple 1064793521 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-05 -0.5700000000000001 1.5 Uncertain significance 0 -418916 Simple 940797218 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-29 -0.5700000000000001 1.5 Uncertain significance 0 -418917 Simple 146359682 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-08 -0.87 0.6666666666666666 Uncertain significance 0 -418932 Simple 1064793535 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-18 12.0 0.5 Pathogenic/Likely pathogenic 1 -418934 Simple 773525821 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-03 -0.54 2.0 Uncertain significance 0 -418940 Simple 370466945 C . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-07-31 -0.6 0.0 Uncertain significance 0 -418941 Simple 201869624 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-04 -0.5700000000000001 1.5 Uncertain significance 0 -418944 Simple 756159737 - . Pathogenic/Likely pathogenic 2 2 Brugada syndrome;not provided 2017-08-31 9.0 0.0 Pathogenic/Likely pathogenic 0 -418955 Simple 138722298 T . Uncertain significance 2 2 Fanconi anemia;not specified 2017-06-08 -0.6 0.0 Uncertain significance 0 -418958 Simple 763051683 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-12 -0.6 0.5 Uncertain significance 0 -418960 Simple 730881333 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-09-18 -0.6 0.0 Uncertain significance 0 -418961 Simple 1064793552 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-30 -0.87 1.0 Uncertain significance 0 -418968 Simple 768155385 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-09 -1.17 1.25 Uncertain significance 0 -418970 Simple 1064793557 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-10 -0.5700000000000001 1.5 Uncertain significance 0 -418974 Simple 769535925 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -418976 Simple 762376159 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-03-16 -0.5700000000000001 1.0 Uncertain significance 0 -418978 Simple 1064793560 T . Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2017-07-12 6.0 0.5 Likely pathogenic 0 -418979 Simple 1064793561 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-04-13 11.4 1.5 Pathogenic/Likely pathogenic 1 -418987 Simple 1064793567 GA . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -418990 Simple 1064793570 - . Pathogenic 2 2 Limb-girdle muscular dystrophy, type 2D;not provided 2017-01-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -418991 Simple 1064793571 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-30 -0.5700000000000001 1.5 Uncertain significance 0 -419003 Simple 1064793579 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -419006 Simple 562176077 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-09 -0.5700000000000001 1.0 Uncertain significance 0 -419007 Simple 986132746 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -0.6 0.5 Uncertain significance 0 -419008 Simple 1064793582 T . Uncertain significance 2 2 not specified;Hereditary cutaneous melanoma 2017-10-12 -0.6 0.0 Uncertain significance 0 -419014 Simple 63750257 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-22 -0.5700000000000001 1.5 Uncertain significance 0 -419016 Simple 377345366 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-25 -0.5700000000000001 1.0 Uncertain significance 0 -419026 Simple 747067203 - . Pathogenic 2 2 Multiple pterygium syndrome Escobar type;not provided 2016-01-04 10.8 2.0 Pathogenic/Likely pathogenic 1 -419029 Simple 778951584 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-09 -0.87 1.0 Uncertain significance 0 -419030 Simple 775219538 T . Uncertain significance 2 2 not specified 2016-12-05 -0.5700000000000001 1.5 Uncertain significance 0 -419049 Simple 1064793606 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-19 -0.5700000000000001 1.5 Uncertain significance 0 -419069 Simple 926246315 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-14 -0.5700000000000001 1.0 Uncertain significance 0 -419071 Simple 150795245 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.8999999999999999 0.0 Uncertain significance 0 -419091 Simple 1064793637 - . Pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-05-01 12.0 0.0 Pathogenic/Likely pathogenic 1 -419093 Simple 397507347 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-12 -0.54 2.0 Uncertain significance 0 -419112 Simple 730881810 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-04 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -419113 Simple 767612847 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -419118 Simple 1064793657 T . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-28 -0.5700000000000001 1.0 Uncertain significance 0 -419120 Simple 1064793658 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-19 -0.5700000000000001 1.5 Uncertain significance 0 -419130 Simple 779913365 A . Uncertain significance 2 2 not specified;Hereditary cutaneous melanoma 2017-09-01 -0.6 0.0 Uncertain significance 0 -419133 Simple 759957629 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -419134 Simple . TT . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-04-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -419163 Simple 766730487 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.87 1.0 Uncertain significance 0 -419164 Simple 1064793689 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-26 -0.54 2.0 Uncertain significance 0 -419166 Simple 764458789 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -0.5700000000000001 1.0 Uncertain significance 0 -419168 Simple 1064793690 TT . Benign/Likely benign 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -12.0 0.3333333333333333 Benign/Likely benign 0 -419176 Simple 876659323 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-17 -0.54 2.0 Uncertain significance 0 -419188 Simple 754367349 - . Pathogenic/Likely pathogenic 2 3 Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not provided;Hereditary cancer-predisposing syndrome 2017-09-29 15.0 0.3333333333333333 Pathogenic 1 -419197 Simple 587781462 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -419201 Simple 1064793715 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-05-04 -0.5700000000000001 1.0 Uncertain significance 0 -419211 Simple 1064793724 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-08-21 -0.6 0.0 Uncertain significance 0 -419212 Simple 1064793725 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-08 -0.5700000000000001 1.5 Uncertain significance 0 -419225 Simple 1064793734 - . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not provided 2017-02-04 11.4 1.5 Pathogenic/Likely pathogenic 1 -419228 Simple 1064793736 . . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -419229 Simple 1064793737 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -0.6 1.0 Uncertain significance 0 -419235 Simple 1064793740 AA . Likely benign 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-07-31 -5.7 1.0 Likely benign 0 -419242 Simple 1064793743 G . Uncertain significance 2 2 not specified 2017-05-22 -0.5700000000000001 1.0 Uncertain significance 0 -419254 Simple 749094206 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-16 -0.5700000000000001 1.5 Uncertain significance 0 -419290 Simple 935011040 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-10 -0.87 1.3333333333333333 Uncertain significance 0 -419291 Simple 1064793774 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-04-14 -0.5700000000000001 1.0 Uncertain significance 0 -419292 Simple 1057517765 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-14 -0.5700000000000001 1.5 Uncertain significance 0 -419294 Simple 1064793776 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-01 -0.5700000000000001 1.5 Uncertain significance 0 -419300 Simple 80159221 G . Pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-08-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -419316 Simple 921253348 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-18 -0.6 1.0 Uncertain significance 0 -419323 Simple 750323164 AAGTAAGT . Pathogenic/Likely pathogenic 2 2 Niemann-Pick disease type C1;not provided 2017-03-10 9.0 0.5 Pathogenic/Likely pathogenic 0 -419352 Simple 1064793809 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-03-04 -0.72 3.0 Uncertain significance 0 -419353 Simple 376613525 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-20 -0.6 0.5 Uncertain significance 0 -419358 Simple 375905814 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-21 -0.87 0.6666666666666666 Uncertain significance 0 -419371 Simple 1064793825 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-02 -0.5700000000000001 1.5 Uncertain significance 0 -419382 Simple 55767801 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-11-17 -0.87 1.3333333333333333 Uncertain significance 0 -419383 Simple 70953659 C . Uncertain significance 2 2 not specified 2016-11-17 -0.5700000000000001 1.5 Uncertain significance 0 -419387 Simple 1064793835 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-01-18 -0.54 2.0 Uncertain significance 0 -419388 Simple 1064793836 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-22 -0.5700000000000001 1.0 Uncertain significance 0 -419397 Simple 776900339 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -419398 Simple 554708247 A . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-05-04 -0.5700000000000001 1.0 Uncertain significance 0 -419399 Simple 1064793845 AA . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2017-03-21 8.4 1.0 Pathogenic/Likely pathogenic 0 -419419 Simple 376280361 A . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -419420 Simple 780143881 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -419426 Simple 1064793864 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-19 -0.6 1.0 Uncertain significance 0 -419428 Simple 1064793866 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-21 -0.87 1.3333333333333333 Uncertain significance 0 -419429 Simple 778060629 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-29 -0.5700000000000001 1.5 Uncertain significance 0 -419433 Simple 45517218 A . Pathogenic 2 2 not provided 2016-07-25 11.4 1.5 Pathogenic/Likely pathogenic 1 -419445 Simple 368832563 - . Benign/Likely benign 2 2 not specified;not provided 2017-08-11 -8.4 1.0 Benign/Likely benign 0 -419454 Simple 1064793881 T . Conflicting interpretations of pathogenicity 1 2 not specified;not provided;Hereditary cancer-predisposing syndrome 2015-07-16 7.800000000000001 2.5 Likely pathogenic 2 -419470 Simple 759421641 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -0.87 0.6666666666666666 Uncertain significance 0 -419472 Simple 1064793894 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -0.5700000000000001 1.5 Uncertain significance 0 -419473 Simple 63751317 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-07-20 10.2 2.5 Pathogenic/Likely pathogenic 1 -419474 Simple 1064793895 . . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-02-21 16.2 2.0 Pathogenic 0 -419482 Simple 1064793903 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-23 -0.87 1.0 Uncertain significance 0 -419498 Simple 886047384 C . Uncertain significance 2 2 not specified 2017-06-14 -0.5700000000000001 1.0 Uncertain significance 0 -419508 Simple 1064793921 C . Pathogenic 2 2 Gorlin syndrome;not provided 2017-07-04 11.4 1.0 Pathogenic/Likely pathogenic 1 -419509 Simple 1064793922 T . Pathogenic 2 2 Gorlin syndrome;not provided 2017-02-06 11.4 1.5 Pathogenic/Likely pathogenic 1 -419515 Simple 1064793927 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.5 Uncertain significance 0 -419525 Simple 775217949 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-20 -0.87 1.3333333333333333 Uncertain significance 0 -419527 Simple 1031329993 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -419530 Simple 267607794 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-01-06 8.100000000000001 2.0 Likely pathogenic 1 -419531 Simple 771109295 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -419536 Simple 1064793938 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -419537 Simple 757089977 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-26 -0.5700000000000001 1.5 Uncertain significance 0 -419540 Simple 749025721 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -419555 Simple 267608011 G . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-27 11.4 1.5 Pathogenic/Likely pathogenic 1 -419557 Simple 730881406 A . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-06-02 -0.5700000000000001 1.0 Uncertain significance 0 -419558 Simple 1064793952 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-11 11.4 1.5 Pathogenic/Likely pathogenic 1 -419560 Simple 1064793953 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-13 -0.87 0.6666666666666666 Uncertain significance 0 -419561 Simple 1064793954 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -419563 Simple 1064793956 - . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2015-08-12 9.600000000000001 3.0 Pathogenic/Likely pathogenic 1 -419566 Simple 1064793959 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-22 -0.87 0.6666666666666666 Uncertain significance 0 -419573 Simple 151115748 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-09 -0.6 0.0 Uncertain significance 0 -419597 Simple 764749700 T . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-20 -0.6 0.5 Uncertain significance 0 -419601 Simple 1064793981 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-10 -0.87 1.0 Uncertain significance 0 -419624 Simple 1064793998 T . Pathogenic 2 2 not provided 2017-04-20 11.4 1.0 Pathogenic/Likely pathogenic 1 -419626 Simple 1064793999 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -419637 Simple 752349229 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-14 -0.6 1.0 Uncertain significance 0 -419655 Simple 1064794020 T . Pathogenic 2 2 Dysferlinopathy;not provided 2016-08-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -419669 Simple 1064794031 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-08-15 10.8 2.0 Pathogenic/Likely pathogenic 1 -419681 Simple 769704991 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-18 -0.5700000000000001 1.0 Uncertain significance 0 -419692 Simple 1064794047 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-16 -0.6 1.0 Uncertain significance 0 -419696 Simple 745843442 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -0.5700000000000001 1.0 Uncertain significance 0 -419704 Simple 1064794055 - . Pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-07-25 12.0 0.0 Pathogenic/Likely pathogenic 1 -419711 Simple 973493604 C . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified 2017-06-10 -0.6 0.5 Uncertain significance 0 -419735 Simple 746449748 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-05 11.4 1.5 Pathogenic/Likely pathogenic 1 -419737 Simple 1064794075 AG . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-19 8.4 1.0 Pathogenic/Likely pathogenic 0 -419738 Simple 58695352 T . Pathogenic 2 1 Pseudoxanthoma elasticum;not provided 2015-08-18 . 2.0 . 0 -419740 Simple 1064794077 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-09 -0.5700000000000001 1.5 Uncertain significance 0 -419761 Simple 1064794089 CG . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-07-20 -0.6 0.5 Uncertain significance 0 -419768 Simple 1064794095 G . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2017-06-29 -0.6 0.0 Uncertain significance 0 -419770 Simple 138567364 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-03 -0.5700000000000001 1.5 Uncertain significance 0 -419780 Simple 1064794101 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-13 -0.5700000000000001 1.5 Uncertain significance 0 -419787 Simple 1064794106 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -419788 Simple 1064794107 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.8400000000000001 1.3333333333333333 Uncertain significance 0 -419791 Simple 202219685 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -0.5700000000000001 1.0 Uncertain significance 0 -419793 Simple 1064794109 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-03-03 -0.6 1.0 Uncertain significance 0 -419805 Simple 144519845 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -419807 Simple 730881760 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-13 -0.87 1.3333333333333333 Uncertain significance 0 -419816 Simple 1064794124 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-04-18 -0.5700000000000001 1.0 Uncertain significance 0 -419820 Simple 1064794128 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-02 -0.6 0.5 Uncertain significance 0 -419822 Simple 764009461 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-09 -0.6 1.0 Uncertain significance 0 -419825 Simple 1064794131 TT . Pathogenic 2 3 Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-05-16 18.0 0.6666666666666666 Pathogenic 0 -419826 Simple 1064794132 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-13 8.4 1.0 Pathogenic/Likely pathogenic 0 -419837 Simple 1064794141 A . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -419843 Simple 1064794143 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -0.6 1.0 Uncertain significance 0 -419844 Simple 1064794144 - . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-27 -1.05 2.0 Uncertain significance 0 -419862 Simple 1064794155 - . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-29 13.8 1.3333333333333333 Pathogenic/Likely pathogenic 0 -419878 Simple 1064794167 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-21 -0.5700000000000001 1.5 Uncertain significance 0 -419879 Simple 1064794168 GTGT . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2017-06-09 11.4 1.0 Pathogenic/Likely pathogenic 1 -419880 Simple 80358881 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -419881 Simple 777895333 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-19 -0.6 1.0 Uncertain significance 0 -419884 Simple 1064794170 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -419907 Simple 755693106 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-10 -0.6 1.0 Uncertain significance 0 -419915 Simple 184131049 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.5 Uncertain significance 0 -419918 Simple 1064794185 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.5 Uncertain significance 0 -419928 Simple 764669864 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-11-29 -1.2 0.5 Uncertain significance 0 -419935 Simple 1064794194 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-15 -0.5700000000000001 1.0 Uncertain significance 0 -419939 Simple 777971431 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -1.17 1.0 Uncertain significance 0 -419942 Simple 1064794198 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -419950 Simple 145994565 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-11-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -419970 Simple 587776789 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -419978 Simple 1064794216 T . Pathogenic/Likely pathogenic 2 2 not provided 2017-02-24 7.8 2.0 Likely pathogenic 1 -419979 Simple 1064794217 T . Pathogenic/Likely pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;not provided 2017-07-24 9.0 0.0 Pathogenic/Likely pathogenic 0 -419982 Simple 1064794220 A . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not provided 2017-07-13 12.0 0.0 Pathogenic/Likely pathogenic 1 -419989 Simple 587780006 TT . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-17 11.4 1.5 Pathogenic/Likely pathogenic 1 -419991 Simple 1064794224 - . Likely pathogenic 2 2 not provided 2017-05-05 6.0 0.5 Likely pathogenic 0 -419992 Simple 749479682 T . Pathogenic 2 2 not provided 2016-11-10 12.0 1.0 Pathogenic/Likely pathogenic 1 -419994 Simple 1064794226 A . Pathogenic 2 2 Familial adenomatous polyposis 1;not provided 2017-10-04 12.0 0.0 Pathogenic/Likely pathogenic 1 -419997 Simple 199740875 T . Pathogenic 2 2 not provided;Familial adenomatous polyposis 2016-12-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -419999 Simple 1064794229 - . Conflicting interpretations of pathogenicity 1 2 not specified;not provided 2017-09-14 5.73 1.0 Likely pathogenic 2 -420001 Simple 371166254 G . Uncertain significance 2 2 Limb-girdle muscular dystrophy, type 2A;not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -420003 Simple 750984976 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-25 -0.6 1.0 Uncertain significance 0 -420005 Simple 1064794231 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-27 -0.6 0.5 Uncertain significance 0 -420008 Simple 753806542 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -420010 Simple 757237504 CTAGCTAG . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-13 8.7 1.0 Pathogenic/Likely pathogenic 0 -420011 Simple 1064794236 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-25 12.0 0.0 Pathogenic/Likely pathogenic 1 -420015 Simple 1064794239 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-06 -0.6 1.0 Uncertain significance 0 -420016 Simple 1060504292 A . Pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-07-25 12.0 0.5 Pathogenic/Likely pathogenic 1 -420020 Simple 1064794243 T . Likely pathogenic 2 2 not provided 2017-03-30 6.0 0.5 Likely pathogenic 0 -420022 Simple 72658185 A . Pathogenic 2 2 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not provided 2017-05-23 12.0 0.0 Pathogenic/Likely pathogenic 1 -420025 Simple 139861061 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-08-07 -0.6 0.0 Uncertain significance 0 -420026 Simple 758898721 - . Likely benign 2 2 Brugada syndrome;not specified 2017-06-01 -6.0 0.0 Likely benign 0 -420027 Simple 587783197 GCCGCCGCCGCC . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified 2017-02-16 -0.5700000000000001 1.5 Uncertain significance 0 -420037 Simple 80357429 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-23 12.0 0.5 Pathogenic/Likely pathogenic 1 -420040 Simple 1064794253 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-07 -0.6 0.5 Uncertain significance 0 -420041 Simple 577852020 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-17 -0.8999999999999999 0.0 Uncertain significance 0 -420053 Simple 1064794260 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-22 11.4 1.5 Pathogenic/Likely pathogenic 1 -420056 Simple 1064794262 - . Pathogenic 2 2 not provided 2017-09-19 11.4 1.0 Pathogenic/Likely pathogenic 1 -420059 Simple 1064794265 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -0.87 1.0 Uncertain significance 0 -420072 Simple 1064794270 C . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-17 9.6 2.5 Pathogenic/Likely pathogenic 1 -420078 Simple 1064794276 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-20 10.8 2.0 Pathogenic/Likely pathogenic 1 -420080 Simple 774732785 T . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-02-09 -0.6 1.0 Uncertain significance 0 -420081 Simple 1064794278 AA . Pathogenic 2 2 Neurofibromatosis, type 1;not provided 2017-04-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -420083 Simple 1051194508 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-19 -0.6 0.5 Uncertain significance 0 -420088 Simple 757106110 T . Pathogenic 2 2 Thoracic aortic aneurysm and aortic dissection;not provided 2017-08-24 12.0 0.0 Pathogenic/Likely pathogenic 1 -420092 Simple 755303686 G . Pathogenic 2 2 not provided 2017-05-15 12.0 0.0 Pathogenic/Likely pathogenic 1 -420098 Simple 762838462 - . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-08-30 11.7 0.6666666666666666 Pathogenic/Likely pathogenic 0 -420105 Simple 1064794290 A . Uncertain significance 2 2 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2017-05-02 -0.6 0.5 Uncertain significance 0 -420107 Simple 201990892 A . Uncertain significance 2 2 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2017-06-14 -0.6 0.5 Uncertain significance 0 -420121 Simple . AA . Pathogenic 2 2 Lynch syndrome;not provided 2017-09-06 12.0 0.5 Pathogenic/Likely pathogenic 1 -420122 Simple 1064794301 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-31 -0.6 1.0 Uncertain significance 0 -420123 Simple 1064794302 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-14 10.8 2.0 Pathogenic/Likely pathogenic 1 -420124 Simple 886044580 TCTC . Pathogenic 2 2 Niemann-Pick disease type C1;not provided 2017-02-22 12.0 1.0 Pathogenic/Likely pathogenic 1 -420133 Simple 112431538 T . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-03 5.7 1.5 Likely pathogenic 0 -420134 Simple 1064794309 - . Likely pathogenic 2 2 Li-Fraumeni syndrome;not provided 2017-09-12 6.0 0.0 Likely pathogenic 0 -420136 Simple 1064794311 A . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified 2017-07-07 -0.6 0.5 Uncertain significance 0 -420137 Simple 1064794312 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -0.6 0.5 Uncertain significance 0 -420148 Simple 376026619 T . Uncertain significance 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;not specified 2017-07-31 -0.6 0.5 Uncertain significance 0 -420155 Simple 764196809 - . Pathogenic 2 2 Hemophagocytic lymphohistiocytosis, familial, 3;not provided 2017-06-15 12.0 0.0 Pathogenic/Likely pathogenic 1 -420188 Simple 1064794336 A . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -420214 Simple 770345026 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -420221 Simple 200200279 A . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-03-23 -0.5700000000000001 1.0 Uncertain significance 0 -420222 Simple 587780193 C . Uncertain significance 2 5 Familial cancer of breast;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-06-02 -1.5 0.6 Uncertain significance 0 -420223 Simple 1064794358 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-06 -0.5700000000000001 1.5 Uncertain significance 0 -420225 Simple 767043399 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-08-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -420226 Simple 267607825 T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-08-09 9.0 0.5 Pathogenic/Likely pathogenic 0 -420248 Simple 1064794371 AGAAGA . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-11 -0.87 0.6666666666666666 Uncertain significance 0 -420250 Simple 768874297 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-05 -0.6 1.0 Uncertain significance 0 -420268 Simple 1064794384 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-04-07 11.4 1.5 Pathogenic/Likely pathogenic 1 -420277 Simple 1064794391 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-24 -0.6 1.0 Uncertain significance 0 -420280 Simple 779105796 T . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-05-04 -0.5700000000000001 1.0 Uncertain significance 0 -420294 Simple 375027042 A . Uncertain significance 2 2 Epilepsy, familial focal, with variable foci 1;not specified 2017-01-10 -0.5700000000000001 1.5 Uncertain significance 0 -420303 Simple 768874297 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -420306 Simple 369988982 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-06 -0.6 0.5 Uncertain significance 0 -420317 Simple 1064794411 . . Uncertain significance 2 2 MYH-associated polyposis;not specified 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -420334 Simple 369896998 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-20 -0.6 0.5 Uncertain significance 0 -420338 Simple 146210785 C . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-18 -0.6 0.0 Uncertain significance 0 -420367 Simple 1064794436 T . Uncertain significance 2 3 PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -420368 Simple 1064794437 AG . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-18 8.7 1.5 Pathogenic/Likely pathogenic 0 -420374 Simple 761118931 A . Uncertain significance 2 2 Mental retardation, autosomal dominant 1;not specified 2017-10-06 -0.6 0.0 Uncertain significance 0 -420385 Simple 778123895 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -0.5700000000000001 1.0 Uncertain significance 0 -420411 Simple 767571919 T . Uncertain significance 2 2 Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified 2017-05-08 -0.5700000000000001 1.0 Uncertain significance 0 -420415 Simple 879254083 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-26 -0.6 0.5 Uncertain significance 0 -420430 Simple 202083639 T . Uncertain significance 2 2 Epilepsy, familial focal, with variable foci 1;not specified 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -420446 Simple 782659731 - . Likely benign 2 2 Leigh syndrome;not specified 2017-07-17 -5.7 1.0 Likely benign 0 -420452 Simple 1064794484 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.5 Uncertain significance 0 -420462 Simple 1064794491 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -420493 Simple 1064794515 - . Likely benign 2 2 Glycogen storage disease, type II;not specified 2017-05-11 -6.0 0.5 Likely benign 0 -420500 Simple 1064794521 A . Pathogenic 2 2 not provided 2017-06-19 12.0 0.5 Pathogenic/Likely pathogenic 1 -420507 Simple 765217559 G . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -420517 Simple 781635166 - . Likely benign 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-05-10 -6.0 0.5 Likely benign 0 -420521 Simple 906564011 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-02 -0.6 1.0 Uncertain significance 0 -420527 Simple 1064794536 C . Pathogenic 2 2 Warburg micro syndrome 1;not provided 2016-02-22 10.8 2.0 Pathogenic/Likely pathogenic 1 -420536 Simple 767926590 G . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -420537 Simple 878853563 G . Uncertain significance 2 2 not specified 2017-04-28 -0.5700000000000001 1.0 Uncertain significance 0 -420561 Simple 1064794561 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-31 -0.5700000000000001 1.0 Uncertain significance 0 -420575 Simple . . . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-06-13 -0.5700000000000001 1.5 Uncertain significance 0 -420578 Simple 879254154 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-17 -0.6 1.0 Uncertain significance 0 -420579 Simple 1064794566 TT . Pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-08-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -420587 Simple 143533100 A . Uncertain significance 2 2 not specified;not provided;RYR1-Related Disorder 2017-03-31 -0.6 0.5 Uncertain significance 0 -420588 Simple 1064794572 - . Pathogenic/Likely pathogenic 2 3 not provided;RYR1-Related Disorders 2017-04-27 11.7 1.0 Pathogenic/Likely pathogenic 0 -420607 Simple 1064794584 T . Uncertain significance 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-02-02 -0.6 1.0 Uncertain significance 0 -420609 Simple 1190625 A . Benign/Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 2017-04-21 -8.7 1.0 Benign/Likely benign 0 -420614 Simple 369383335 G . Uncertain significance 2 2 not specified 2016-03-18 -0.5700000000000001 1.5 Uncertain significance 0 -420641 Simple 142956522 A . Benign/Likely benign 2 3 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 2017-06-28 -12.0 0.6666666666666666 Benign/Likely benign 0 -420672 Simple 1064794626 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -420673 Simple 1064794627 . . Uncertain significance 2 3 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified;not provided 2017-07-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -420694 Simple 753961188 TT . Pathogenic/Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2016-03-30 14.4 1.3333333333333333 Pathogenic/Likely pathogenic 0 -420701 Simple 1064794647 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -420703 Simple 140707092 C . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-09-18 -0.6 0.0 Uncertain significance 0 -420747 Simple 764921920 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-01-20 -0.6 1.0 Uncertain significance 0 -420755 Simple 369203092 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-05-01 -0.6 0.5 Uncertain significance 0 -420762 Simple 1064794687 T . Uncertain significance 2 2 not specified 2017-03-15 -0.6 0.5 Uncertain significance 0 -420770 Simple 375622587 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -420772 Simple 765702675 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-13 -0.6 1.0 Uncertain significance 0 -420793 Simple 746592911 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -1.17 0.75 Uncertain significance 0 -420795 Simple 1064794705 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-25 -0.6 0.5 Uncertain significance 0 -420798 Simple 1064794708 - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2016-03-28 11.4 1.5 Pathogenic/Likely pathogenic 1 -420800 Simple 1064794709 - . Pathogenic/Likely pathogenic 2 2 Dilated cardiomyopathy 1BB;not provided 2016-03-29 8.4 1.5 Pathogenic/Likely pathogenic 0 -420813 Simple . GGTGTAGAAC . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-04-14 -0.6 0.5 Uncertain significance 0 -420826 Simple 183489969 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-05 -0.6 1.0 Uncertain significance 0 -420846 Simple 1064794739 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -420851 Simple 933729249 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -420866 Simple 767996570 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -420886 Simple 766394131 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-09-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -420890 Simple 587782789 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-02 -0.6 1.0 Uncertain significance 0 -420901 Simple 563043611 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2016-10-22 -0.6 1.0 Uncertain significance 0 -420921 Simple 749671520 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-12 -0.6 1.0 Uncertain significance 0 -420940 Simple 750224234 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-01-17 -0.8999999999999999 1.0 Uncertain significance 0 -420941 Simple 1064794806 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;not specified 2017-07-26 -0.6 0.5 Uncertain significance 0 -420949 Simple 1064794809 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-12 12.0 1.0 Pathogenic/Likely pathogenic 0 -420950 Simple 1064794810 G . Uncertain significance 2 3 Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -420961 Simple 1064794820 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-19 -0.5700000000000001 1.5 Uncertain significance 0 -420973 Simple 1064794826 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-04 -0.6 0.5 Uncertain significance 0 -420987 Simple 781327088 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-10-26 -0.6 0.0 Uncertain significance 0 -420995 Simple 1064794838 T . Uncertain significance 2 2 not specified;Hereditary cutaneous melanoma 2017-01-21 -0.6 1.0 Uncertain significance 0 -421024 Simple 947155109 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.0 Uncertain significance 0 -421033 Simple 1064794863 A . Uncertain significance 2 2 not specified;Hereditary cutaneous melanoma 2017-04-16 -0.6 0.5 Uncertain significance 0 -421049 Simple 1064794874 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-05-02 -0.6 1.0 Uncertain significance 0 -421050 Simple 587782366 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-04-27 -0.5700000000000001 1.5 Uncertain significance 0 -421052 Simple 149043082 A . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -0.8999999999999999 0.0 Uncertain significance 0 -421053 Simple 1064794876 C . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -421056 Simple 764816440 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-02-03 -0.6 1.0 Uncertain significance 0 -421066 Simple 1064794885 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-05-04 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -421068 Simple 1064794887 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -421098 Simple 80357036 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-27 -0.5700000000000001 1.5 Uncertain significance 0 -421120 Simple 1064794923 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -421121 Simple 745771647 C . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-06-20 -0.6 0.0 Uncertain significance 0 -421129 Simple 1064794928 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -421133 Simple 899935666 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-28 -0.6 1.0 Uncertain significance 0 -421150 Simple 1064794942 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2016-12-21 -0.87 1.3333333333333333 Uncertain significance 0 -421158 Simple 1064794948 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -421163 Simple 751799116 T . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-16 -0.6 0.5 Uncertain significance 0 -421166 Simple 770368215 - . Uncertain significance 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-14 -0.6 0.0 Uncertain significance 0 -421176 Simple 751451482 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-26 -0.6 0.5 Uncertain significance 0 -421181 Simple 757172522 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-07 -0.6 1.0 Uncertain significance 0 -421193 Simple 186810431 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-30 -0.6 1.0 Uncertain significance 0 -421196 Simple 781621926 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-05-09 -0.6 0.5 Uncertain significance 0 -421215 Simple 770606675 T . Pathogenic/Likely pathogenic 2 2 not provided;Dilated Cardiomyopathy, Dominant 2017-04-04 9.0 0.5 Pathogenic/Likely pathogenic 0 -421222 Simple 980303681 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-05 -0.6 0.5 Uncertain significance 0 -421223 Simple 1064794989 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -421230 Simple 775509290 GCGGCAGGAGCGGCAGGA . Uncertain significance 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-07-07 -0.6 0.0 Uncertain significance 0 -421245 Simple 1064795005 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-02-24 -0.6 1.0 Uncertain significance 0 -421249 Simple 199740930 T . Likely pathogenic 2 2 not provided 2017-02-13 6.0 1.0 Likely pathogenic 0 -421275 Simple 866548835 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-13 -0.6 0.5 Uncertain significance 0 -421278 Simple 1064795030 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-03 -0.6 1.0 Uncertain significance 0 -421284 Simple 1064795034 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-03 -0.6 0.5 Uncertain significance 0 -421285 Simple 771748555 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-05-30 -0.84 1.3333333333333333 Uncertain significance 0 -421293 Simple 1057523330 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -421299 Simple 1064795041 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-22 -0.6 0.5 Uncertain significance 0 -421303 Simple 1064795045 - . Likely pathogenic 2 3 Breast-ovarian cancer, familial 4;not provided;Hereditary cancer-predisposing syndrome 2017-08-10 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -421320 Simple 183531638 G . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -1.2 0.5 Uncertain significance 0 -421324 Simple 753201154 T . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-04-20 -0.6 0.5 Uncertain significance 0 -421331 Simple 755069935 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -0.6 1.0 Uncertain significance 0 -421336 Simple 1064795067 AT . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-07 -0.6 1.0 Uncertain significance 0 -421374 Simple 1064795094 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-07 -0.6 0.5 Uncertain significance 0 -421405 Simple 1064795116 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -421423 Simple 1064795127 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-25 12.0 1.0 Pathogenic/Likely pathogenic 1 -421438 Simple 199780731 G . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-04-13 -0.6 0.5 Uncertain significance 0 -421459 Simple 775595174 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-20 12.0 1.0 Pathogenic/Likely pathogenic 1 -421478 Simple 1064795166 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-07-27 -0.6 0.5 Uncertain significance 0 -421484 Simple 1064795171 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.5 Uncertain significance 0 -421524 Simple 774659156 GCCCTCGCCCTC . Uncertain significance 2 2 not specified 2016-06-30 -0.54 2.0 Uncertain significance 0 -421531 Simple 201758363 - . Benign 2 2 not specified;Combined oxidative phosphorylation deficiency 27 2017-07-13 -12.0 0.5 Benign/Likely benign 1 -421552 Simple 748635133 A . Uncertain significance 2 2 Retinoblastoma;not specified 2017-04-28 -0.6 0.5 Uncertain significance 0 -421555 Simple 1064795210 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-07-19 -0.6 0.5 Uncertain significance 0 -421557 Simple 587778067 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-09 -0.6 0.5 Uncertain significance 0 -421570 Simple 1064795216 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-07-21 12.0 1.0 Pathogenic/Likely pathogenic 1 -421590 Simple 1060503372 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-01 -0.54 2.0 Uncertain significance 0 -421591 Simple 763992299 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-01 -0.5700000000000001 1.5 Uncertain significance 0 -421623 Simple 587779866 G . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-20 15.0 0.3333333333333333 Pathogenic 1 -421624 Simple 1064795257 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-17 -0.6 0.5 Uncertain significance 0 -421629 Simple 1064795262 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.0 Uncertain significance 0 -421642 Simple 774711850 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-29 -0.6 1.0 Uncertain significance 0 -421643 Simple 1064795269 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -421644 Simple 1064795270 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-25 -0.6 1.0 Uncertain significance 0 -421646 Simple 1064795272 AAAA . Benign/Likely benign 2 2 Familial cancer of breast;not specified 2017-03-03 -9.0 1.0 Benign/Likely benign 0 -421647 Simple 772397517 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-07-20 -0.6 0.5 Uncertain significance 0 -421654 Simple 755818010 T . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 -1.2 0.5 Uncertain significance 0 -421660 Simple 137977565 T . Uncertain significance 2 2 Mental retardation, autosomal dominant 1;not specified 2017-05-24 -0.6 0.5 Uncertain significance 0 -421715 Simple 1026127409 GTAGTA . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-19 -0.6 1.0 Uncertain significance 0 -421747 Simple 1064795341 - . Pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-06-05 12.0 0.0 Pathogenic/Likely pathogenic 1 -421751 Simple 372640024 A . Uncertain significance 2 2 not specified;not provided 2016-10-31 -0.6 1.0 Uncertain significance 0 -421752 Simple 876658774 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -421754 Simple 876660853 G . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-22 12.0 1.0 Pathogenic/Likely pathogenic 1 -421765 Simple 1064795349 . . Benign/Likely benign 2 2 Bethlem myopathy 1;not specified 2017-08-08 -9.0 0.5 Benign/Likely benign 0 -421774 Simple 375340441 C . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-07-12 -0.6 0.0 Uncertain significance 0 -421776 Simple 367761032 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -421781 Simple 1064795358 C . Uncertain significance 2 2 not specified 2016-07-21 -0.6 1.0 Uncertain significance 0 -421788 Simple 201199629 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-07-24 -0.6 0.5 Uncertain significance 0 -421789 Simple 1064795361 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.5 Uncertain significance 0 -421820 Simple . CC . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-08-04 6.0 1.0 Likely pathogenic 0 -421831 Simple 1064795388 T . Likely pathogenic 2 2 not provided 2017-01-19 6.0 1.0 Likely pathogenic 0 -421832 Simple 372966951 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-10-16 -1.2 0.5 Uncertain significance 0 -421843 Simple 8178989 C . Uncertain significance 2 3 Familial infantile myasthenia;not specified 2017-06-22 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -421845 Simple 768246863 A . Uncertain significance 2 2 Brugada syndrome;not specified 2017-05-03 -0.6 0.0 Uncertain significance 0 -421858 Simple 1064795407 TT . Likely pathogenic 2 2 Dilated cardiomyopathy 1G;not provided 2017-04-23 6.0 0.5 Likely pathogenic 0 -421864 Simple 1064795409 G . Likely pathogenic 2 2 not provided 2017-06-28 6.0 0.5 Likely pathogenic 0 -421879 Simple 780345806 A . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-29 -1.17 0.75 Uncertain significance 0 -421880 Simple 61756464 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.5 Uncertain significance 0 -421891 Simple 1064795429 - . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-06 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -421894 Simple 1008704701 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.5 Uncertain significance 0 -421895 Simple 146812867 G . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 2017-06-27 -6.0 0.5 Likely benign 0 -421912 Simple 1064795441 - . Pathogenic/Likely pathogenic 2 3 Lynch syndrome II;not provided 2017-01-24 12.0 1.0 Pathogenic/Likely pathogenic 0 -421914 Simple 778717624 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-05-30 -0.6 0.5 Uncertain significance 0 -421919 Simple 1064795447 - . Pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-03-01 12.0 1.0 Pathogenic/Likely pathogenic 1 -421931 Simple 751547785 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-09 -0.6 1.0 Uncertain significance 0 -421949 Simple 730881329 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.8999999999999999 0.0 Uncertain significance 0 -421952 Simple 756807560 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-02-13 -0.6 1.0 Uncertain significance 0 -421963 Simple 146629065 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-19 -0.6 1.0 Uncertain significance 0 -421966 Simple 1064795478 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-14 -0.6 1.0 Uncertain significance 0 -421988 Simple 375354077 A . Uncertain significance 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-03-01 -0.6 1.0 Uncertain significance 0 -421999 Simple 1064795495 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-06 -0.6 0.5 Uncertain significance 0 -422008 Simple 1064795499 CTGCTG . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-11-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -422026 Simple 1064795508 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-27 -0.6 1.0 Uncertain significance 0 -422029 Simple 776181081 - . Uncertain significance 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-07-17 -0.6 0.0 Uncertain significance 0 -422036 Simple 1064795515 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-08-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -422039 Simple 764399373 - . Uncertain significance 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-04-27 -0.6 0.5 Uncertain significance 0 -422056 Simple 17217723 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-28 -0.6 1.0 Uncertain significance 0 -422065 Simple 1064795532 C . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-06-15 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -422066 Simple 1064795533 A . Uncertain significance 2 2 Autosomal dominant nocturnal frontal lobe epilepsy;not specified 2017-08-11 -0.6 0.5 Uncertain significance 0 -422067 Simple 1064795534 T . Pathogenic 2 2 Mental retardation, autosomal dominant 9;not provided 2017-05-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -422130 Simple 748891343 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-29 -0.6 1.0 Uncertain significance 0 -422140 Simple 1064795583 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-08 -0.6 1.0 Uncertain significance 0 -422145 Simple 373949463 - . Benign 2 2 not specified;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 2017-07-11 -12.0 0.5 Benign/Likely benign 1 -422147 Simple 776976178 A . Likely pathogenic 2 2 Spastic paraplegia 47, autosomal recessive;not provided 2017-01-04 6.0 1.0 Likely pathogenic 0 -422153 Simple 1064795591 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -422161 Simple 63751284 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-17 -0.6 0.5 Uncertain significance 0 -422172 Simple 1064795603 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-04-27 -0.6 0.5 Uncertain significance 0 -422190 Simple 765793636 A . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified 2017-02-12 -0.6 1.0 Uncertain significance 0 -422199 Simple 1064795623 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -422205 Simple 1064795629 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -422215 Simple 730881258 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;not specified 2017-03-04 -0.6 1.0 Uncertain significance 0 -422238 Simple 1064795649 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-12 9.0 1.0 Pathogenic/Likely pathogenic 0 -422243 Simple 1064795653 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-11 12.0 1.0 Pathogenic/Likely pathogenic 1 -422260 Simple 587781412 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-22 -0.6 1.0 Uncertain significance 0 -422273 Simple 1064795673 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-26 -0.6 0.5 Uncertain significance 0 -422295 Simple 1064795691 T . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified 2017-07-11 -0.6 0.0 Uncertain significance 0 -422297 Simple 1064795693 G . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-09-20 5.7 1.5 Likely pathogenic 0 -422306 Simple 587782805 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-23 -0.6 1.0 Uncertain significance 0 -422321 Simple 1064795705 T . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-11-07 6.0 0.5 Likely pathogenic 0 -422333 Simple 764639416 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;not specified 2017-06-26 -0.6 0.5 Uncertain significance 0 -422338 Simple 1064795716 . . Likely pathogenic 2 2 Breast-ovarian cancer, familial 4;not provided 2017-10-31 6.0 0.0 Likely pathogenic 0 -422358 Simple 1064795729 G . Uncertain significance 2 2 Juvenile polyposis syndrome;not specified 2017-04-25 -0.6 0.5 Uncertain significance 0 -422371 Simple 587779322 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-28 -0.6 1.0 Uncertain significance 0 -422404 Simple 770836890 TTC . Uncertain significance 2 2 not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -422414 Simple 1064795766 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.48 2.5 Uncertain significance 0 -422450 Simple 759584091 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.5 Uncertain significance 0 -422465 Simple 918661445 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-03-20 -0.6 0.5 Uncertain significance 0 -422466 Simple 876660131 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-10 -0.6 1.0 Uncertain significance 0 -422497 Simple 1064795816 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-10 8.4 1.5 Pathogenic/Likely pathogenic 0 -422507 Simple 1064795822 - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-17 -0.6 1.0 Uncertain significance 0 -422509 Simple 1064795824 - . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-21 15.0 0.0 Pathogenic 1 -422517 Simple 1064795830 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;not specified 2017-06-12 -0.6 0.0 Uncertain significance 0 -422518 Simple 1064795831 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-19 9.0 0.5 Pathogenic/Likely pathogenic 0 -422531 Simple 876659619 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -422533 Simple 1064795842 C . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;not specified 2017-03-08 -0.6 0.5 Uncertain significance 0 -422539 Simple . TT . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-10-13 12.0 1.0 Pathogenic/Likely pathogenic 1 -422545 Simple 1064795850 G . Uncertain significance 2 2 not specified 2017-05-02 -0.6 0.5 Uncertain significance 0 -422549 Simple 1064795852 A . Likely pathogenic 2 2 not provided;Myoclonic-atonic epilepsy 2017-01-06 6.0 1.0 Likely pathogenic 0 -422563 Simple 1064795860 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-10-18 -0.5700000000000001 1.5 Uncertain significance 0 -422565 Simple 1064795862 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -422571 Simple 551380805 A . Uncertain significance 2 2 not specified 2016-11-08 -0.6 1.0 Uncertain significance 0 -422589 Simple 564013823 - . Benign/Likely benign 2 2 Nephronophthisis;not specified 2017-04-23 -9.0 0.5 Benign/Likely benign 0 -422605 Simple 3032358 . . Benign/Likely benign 2 2 Androgen resistance syndrome;Bulbo-spinal atrophy X-linked;not specified 2016-10-20 -9.0 1.0 Benign/Likely benign 0 -422613 Simple 778832152 C . Uncertain significance 2 2 not specified 2017-07-13 -0.6 0.5 Uncertain significance 0 -422617 Simple 1064795895 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-20 -0.6 0.5 Uncertain significance 0 -422618 Simple 1064795896 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-01-27 -0.6 1.0 Uncertain significance 0 -422627 Simple 1064795902 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-14 -0.6 0.5 Uncertain significance 0 -422629 Simple 104894307 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-07 9.6 3.0 Pathogenic/Likely pathogenic 1 -422638 Simple 560596101 G . Pathogenic/Likely pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-27 12.0 0.6666666666666666 Pathogenic/Likely pathogenic 0 -422641 Simple 536166099 G . Uncertain significance 2 2 not specified 2017-04-13 -0.6 0.5 Uncertain significance 0 -422644 Simple 369583604 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -0.6 0.0 Uncertain significance 0 -422646 Simple 560271582 - . Likely benign 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-06-20 -6.0 0.5 Likely benign 0 -422659 Simple 1064795920 - . Benign/Likely benign 2 2 not specified 2016-10-31 -9.0 1.0 Benign/Likely benign 0 -422679 Simple 1064795932 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-02 -0.6 1.0 Uncertain significance 0 -422680 Simple 869312772 GG . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-02 9.0 1.0 Pathogenic/Likely pathogenic 0 -422681 Simple 759449495 . . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.5 Uncertain significance 0 -422713 Simple 1064795953 - . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast;not provided 2017-04-24 9.0 0.5 Pathogenic/Likely pathogenic 0 -422723 Simple 1064795959 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-13 9.0 1.0 Pathogenic/Likely pathogenic 0 -422725 Simple 397516434 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-10-23 -0.6 0.5 Uncertain significance 0 -422729 Simple 62625280 C . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-07-26 -0.6 0.5 Uncertain significance 0 -422730 Simple 1064795960 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-07-12 12.0 0.0 Pathogenic/Likely pathogenic 1 -422737 Simple 146777134 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-09 -0.6 1.0 Uncertain significance 0 -422738 Simple 150795245 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-09 -0.6 1.0 Uncertain significance 0 -422742 Simple 116093741 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;not specified 2017-04-10 -0.6 0.5 Uncertain significance 0 -422743 Simple 554302947 T . Uncertain significance 2 2 Fanconi anemia;not specified 2017-04-15 -0.6 0.5 Uncertain significance 0 -422754 Simple 756877141 G . Uncertain significance 2 3 Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-27 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -422755 Simple 55742659 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-18 -0.6 1.0 Uncertain significance 0 -422759 Simple 1064795978 T . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-01-09 -0.6 1.0 Uncertain significance 0 -422764 Simple 782563602 T . Uncertain significance 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-05-09 -0.6 0.5 Uncertain significance 0 -422767 Simple 905983196 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-28 -0.87 1.3333333333333333 Uncertain significance 0 -422768 Simple 991924818 G . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-09 -0.6 0.5 Uncertain significance 0 -422779 Simple 1064795991 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-07 -0.87 1.0 Uncertain significance 0 -422792 Simple 1064796002 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-03-20 -0.6 0.5 Uncertain significance 0 -422799 Simple 751475855 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-05-30 -0.6 0.5 Uncertain significance 0 -422816 Simple 1064796018 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -422817 Simple 541931950 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-30 -0.6 0.5 Uncertain significance 0 -422826 Simple . TT . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2016-11-29 9.0 1.0 Pathogenic/Likely pathogenic 0 -422834 Simple 766595156 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-26 -0.6 0.5 Uncertain significance 0 -422835 Simple 1064796032 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-11-06 -0.6 0.5 Uncertain significance 0 -422840 Simple 370503213 A . Uncertain significance 2 2 Oligodontia-colorectal cancer syndrome;not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -422841 Simple 146960286 T . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-09-28 -0.6 0.0 Uncertain significance 0 -422851 Simple 1064796041 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-05 -0.6 1.0 Uncertain significance 0 -422873 Simple 1064796060 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-08 -0.6 1.0 Uncertain significance 0 -422903 Simple 1064796080 C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-03-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -422917 Simple 1064796091 T . Uncertain significance 2 2 Fanconi anemia, complementation group O;not specified 2017-06-26 -0.6 0.5 Uncertain significance 0 -422930 Simple 1064796102 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-19 -0.6 1.0 Uncertain significance 0 -422963 Simple 1064796126 A . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-08-07 -0.6 0.5 Uncertain significance 0 -422973 Simple 375966384 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -423001 Simple 376165779 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;not specified 2017-07-03 -0.6 0.5 Uncertain significance 0 -423011 Simple 1064796163 AA . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-04-20 -0.6 0.5 Uncertain significance 0 -423041 Simple 772622109 G . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-04-08 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -423080 Simple 753540183 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -423124 Simple 1064796248 CATCAT . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-12 -0.6 0.5 Uncertain significance 0 -423126 Simple 749746725 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-21 -0.6 1.0 Uncertain significance 0 -423138 Simple 779321661 CAGATCCTCCCAGATCCTCC . Pathogenic 2 2 Spastic paraplegia 11, autosomal recessive;not provided 2017-05-01 12.0 0.5 Pathogenic/Likely pathogenic 1 -423223 Simple 768054411 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -423236 Simple 1064796315 - . Pathogenic/Likely pathogenic 2 2 Bardet-Biedl syndrome;not provided 2017-03-07 9.0 0.5 Pathogenic/Likely pathogenic 0 -423238 Simple 576578672 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-17 -0.8999999999999999 0.0 Uncertain significance 0 -423256 Simple 149127230 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-01-27 -0.6 1.0 Uncertain significance 0 -423287 Simple 200168879 T . Uncertain significance 2 2 not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -423343 Simple 376565365 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;not specified 2017-02-06 -0.6 1.0 Uncertain significance 0 -423353 Simple 370026081 T . Uncertain significance 2 2 Primary dilated cardiomyopathy;not specified 2017-07-10 -0.6 0.5 Uncertain significance 0 -423356 Simple 769003538 C . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified 2017-07-31 -0.6 0.5 Uncertain significance 0 -423360 Simple 144060489 C . Uncertain significance 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2017-02-08 -0.6 1.0 Uncertain significance 0 -423368 Simple 761033647 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -423389 Simple 546889092 T . Uncertain significance 2 2 Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified 2017-03-23 -0.6 0.5 Uncertain significance 0 -423457 Simple 1064796438 A . Uncertain significance 2 2 Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified 2017-04-17 -0.6 0.5 Uncertain significance 0 -423505 Simple 757311213 T . Uncertain significance 2 2 not specified 2017-02-13 -0.6 1.0 Uncertain significance 0 -423506 Simple 367994107 C . Uncertain significance 2 2 not specified 2017-02-16 -0.6 1.0 Uncertain significance 0 -423532 Simple 1064796477 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-18 -0.6 0.5 Uncertain significance 0 -423540 Simple 773552098 A . Uncertain significance 2 2 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;not specified 2017-07-25 -0.6 0.5 Uncertain significance 0 -423612 Simple 1064796529 A . Uncertain significance 2 2 not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -423618 Simple 1064796534 CGCCGC . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;not specified 2017-04-25 -0.6 0.5 Uncertain significance 0 -423627 Simple 768241596 T . Uncertain significance 2 3 Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -423630 Simple 767642535 A . Uncertain significance 2 3 not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-04-20 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -423663 Simple 764317955 T . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-03-13 -0.6 0.5 Uncertain significance 0 -423676 Simple 1064796569 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-15 -0.6 1.0 Uncertain significance 0 -423677 Simple 1064796570 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-16 -0.6 1.0 Uncertain significance 0 -423706 Simple 1064796589 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-02-22 -0.8999999999999999 1.0 Uncertain significance 0 -423743 Simple 201533251 C . Uncertain significance 2 2 not specified;not provided 2017-09-13 -0.6 0.0 Uncertain significance 0 -423747 Simple 763509640 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified 2017-06-19 -0.6 0.5 Uncertain significance 0 -423761 Simple 754898711 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-08-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -423766 Simple 200382813 A . Uncertain significance 2 2 not specified 2017-06-15 -0.6 0.0 Uncertain significance 0 -423788 Simple 555842031 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-06-12 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -423840 Simple 530501230 T . Uncertain significance 2 2 Conotruncal heart malformations;not specified 2017-07-21 -0.6 0.5 Uncertain significance 0 -423899 Simple . CC . Likely pathogenic 2 2 not specified;not provided 2017-03-25 6.0 0.5 Likely pathogenic 0 -423941 Simple 1064796708 C . Pathogenic/Likely pathogenic 2 2 Fumarase deficiency;not provided 2017-03-10 9.0 0.5 Pathogenic/Likely pathogenic 0 -423958 Simple 202005454 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-24 -0.6 0.5 Uncertain significance 0 -423965 Simple 1064796719 A . Uncertain significance 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-03-08 -0.6 0.5 Uncertain significance 0 -423972 Simple 1064796724 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-23 -0.6 1.0 Uncertain significance 0 -424034 Simple 1064796760 G . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-04-20 -0.6 0.5 Uncertain significance 0 -424146 Simple 1064796825 T . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-03-26 -0.6 0.0 Uncertain significance 0 -424177 Simple 202123213 T . Uncertain significance 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-06-09 -0.6 0.0 Uncertain significance 0 -424218 Simple 139901585 T . Uncertain significance 2 2 not specified 2017-05-23 -0.6 0.0 Uncertain significance 0 -424226 Simple 781788935 A . Uncertain significance 2 2 not specified 2017-03-22 -0.6 0.5 Uncertain significance 0 -424231 Simple 145882956 C . Uncertain significance 2 2 not specified 2017-03-17 -0.6 0.5 Uncertain significance 0 -424292 Simple 187022757 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-04-12 -0.6 0.0 Uncertain significance 0 -424295 Simple 377360750 A . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-03-14 -0.6 0.5 Uncertain significance 0 -424308 Simple 532624326 T . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-03-26 -0.6 0.0 Uncertain significance 0 -424311 Simple 191722579 T . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-06-05 -0.6 0.0 Uncertain significance 0 -424444 Simple 1064796970 A . Pathogenic/Likely pathogenic 2 2 Tuberous sclerosis 2;not provided 2017-03-18 9.0 0.5 Pathogenic/Likely pathogenic 0 -424463 Simple 763045560 A . Uncertain significance 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-04-22 -0.6 0.0 Uncertain significance 0 -424464 Simple 779140322 A . Uncertain significance 2 2 Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified 2017-10-17 -0.6 0.0 Uncertain significance 0 -424465 Simple 762606715 C . Uncertain significance 2 2 Congenital contractural arachnodactyly;not specified 2017-07-12 -0.6 0.0 Uncertain significance 0 -424556 Simple 1064797039 T . Uncertain significance 2 2 not specified;RYR1-Related Disorders 2017-08-03 -0.6 0.0 Uncertain significance 0 -424654 Simple 912983346 C . Pathogenic/Likely pathogenic 2 2 Hereditary spastic paraplegia;not provided 2017-03-07 9.0 0.5 Pathogenic/Likely pathogenic 0 -424673 Simple 141377075 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;Hereditary spastic paraplegia 2017-03-22 -0.6 0.0 Uncertain significance 0 -424677 Simple 142375870 C . Uncertain significance 2 2 Hereditary spastic paraplegia;Spastic paraplegia 75, autosomal recessive 2017-03-26 -0.6 0.0 Uncertain significance 0 -424690 Simple 770927853 T . Uncertain significance 2 2 Hereditary spastic paraplegia;Spastic paraplegia 2017-06-05 -0.6 0.0 Uncertain significance 0 -424692 Simple 148604312 C . Uncertain significance 2 3 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;Hereditary spastic paraplegia;not specified 2017-05-11 -0.8999999999999999 0.0 Uncertain significance 0 -424905 Simple 150532164 C . Uncertain significance 2 2 Glycogen storage disease type III;not provided 2017-06-04 -0.6 0.5 Uncertain significance 0 -424979 Simple 771534001 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not provided 2017-04-20 -0.6 0.5 Uncertain significance 0 -424993 Simple 1064797161 A . Uncertain significance 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-05-26 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -425072 Simple 1064797200 A . Uncertain significance 2 2 Brugada syndrome 8;not provided 2017-03-22 -0.6 0.5 Uncertain significance 0 -425159 Simple 145988230 A . Uncertain significance 2 2 not specified;not provided 2017-01-31 -0.6 1.0 Uncertain significance 0 -425164 Simple 199638166 C . Uncertain significance 2 2 not specified;not provided 2017-05-10 -0.6 0.5 Uncertain significance 0 -425168 Simple 1064797235 A . Likely pathogenic 2 2 Neurodegeneration with brain iron accumulation 4;not provided 2017-02-28 6.0 1.0 Likely pathogenic 0 -425174 Simple 966781989 T . Uncertain significance 2 2 not specified;not provided 2017-10-18 -0.6 0.5 Uncertain significance 0 -425189 Simple 1064797245 A . Likely pathogenic 2 2 Alternating hemiplegia of childhood 2;not provided 2016-09-30 6.0 1.0 Likely pathogenic 0 -425206 Simple 776489779 T . Uncertain significance 2 2 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not provided 2017-03-25 -0.6 0.5 Uncertain significance 0 -425227 Simple 780391343 C . Uncertain significance 2 2 not specified;not provided 2017-06-13 -0.6 0.5 Uncertain significance 0 -425280 Simple 151102020 A . Uncertain significance 2 2 not specified;not provided 2016-10-31 -0.5700000000000001 1.5 Uncertain significance 0 -425292 Simple 374524879 A . Uncertain significance 2 2 not provided;Neuropathy, hereditary sensory and autonomic, type VII;Episodic pain syndrome, familial, 3 2017-06-08 -0.6 0.0 Uncertain significance 0 -425294 Simple 146629436 T . Uncertain significance 2 2 not specified;not provided 2017-07-14 -0.6 0.5 Uncertain significance 0 -425426 Simple 759452636 A . Uncertain significance 2 2 not specified;not provided 2017-08-14 -0.6 0.5 Uncertain significance 0 -425597 Simple 72648326 A . Pathogenic 2 2 Osteogenesis imperfecta type I;not provided 2017-06-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -425639 Simple 72645321 T . Pathogenic 2 2 Osteogenesis imperfecta type I;not provided 2017-08-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -426023 Simple 1085307415 A . Pathogenic/Likely pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not specified 2017-06-19 9.0 0.5 Pathogenic/Likely pathogenic 0 -426035 Simple 1085307426 A . Pathogenic 2 2 Primary pulmonary hypertension;Hereditary hemorrhagic telangiectasia type 2;not specified 2017-02-16 12.0 1.0 Pathogenic/Likely pathogenic 1 -426113 Simple 1085307142 G . Pathogenic 2 2 not provided;Neuropathy, hereditary sensory and autonomic, type VII 2017-04-25 12.0 0.0 Pathogenic/Likely pathogenic 1 -426117 Simple 1085307452 - . Pathogenic 2 2 not provided 2017-05-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -426122 Simple 1085307455 A . Pathogenic 2 2 not provided 2017-05-02 12.0 0.5 Pathogenic/Likely pathogenic 1 -426127 Simple 1085307459 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-02 10.8 1.5 Pathogenic/Likely pathogenic 1 -426130 Simple 1085307461 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-31 12.0 0.0 Pathogenic/Likely pathogenic 1 -426200 Simple 199573700 C . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-06-01 -0.6 0.0 Uncertain significance 0 -426202 Simple 1085307496 T . Uncertain significance 2 2 Thoracic aortic aneurysm and aortic dissection;not specified 2017-07-27 -0.6 0.0 Uncertain significance 0 -426206 Simple 772333671 A . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 2017-06-27 -0.6 0.0 Uncertain significance 0 -426227 Simple 148596328 G . Uncertain significance 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified 2017-05-24 -0.6 0.0 Uncertain significance 0 -426238 Simple 1085307517 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2017-06-09 -0.6 0.0 Uncertain significance 0 -426256 Simple 148908208 G . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-18 -0.6 0.0 Uncertain significance 0 -426266 Simple 201923228 A . Uncertain significance 2 2 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2017-04-24 -0.6 0.5 Uncertain significance 0 -426278 Simple 398123172 A . Pathogenic/Likely pathogenic 2 2 Glycogen storage disease, type II;not provided 2017-05-20 9.0 0.0 Pathogenic/Likely pathogenic 0 -426291 Simple 748001255 A . Likely benign 2 2 not specified 2017-04-21 -6.0 0.5 Likely benign 0 -426304 Simple 369650940 G . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-06-20 -0.6 0.0 Uncertain significance 0 -426305 Simple 374659816 G . Uncertain significance 2 2 Dilated cardiomyopathy 1O;not specified 2017-08-08 -0.6 0.0 Uncertain significance 0 -426326 Simple 1085307566 T . Uncertain significance 2 2 Polymicrogyria, asymmetric;not specified 2017-10-12 -0.6 0.0 Uncertain significance 0 -426363 Simple 779652673 A . Pathogenic/Likely pathogenic 2 2 Pyridoxine-dependent epilepsy;not provided 2017-09-25 9.0 0.0 Pathogenic/Likely pathogenic 0 -426372 Simple 751342087 . . Likely pathogenic 2 2 not provided 2017-04-19 6.0 0.5 Likely pathogenic 0 -426382 Simple 139259804 G . Uncertain significance 2 2 Osteogenesis imperfecta type 8;not specified 2017-07-16 -0.6 0.0 Uncertain significance 0 -426488 Simple 759802064 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-06-12 -0.6 0.0 Uncertain significance 0 -426534 Simple 758908522 T . Uncertain significance 2 4 Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-09 -1.17 0.5 Uncertain significance 0 -426552 Simple 143676075 T . Uncertain significance 2 2 not specified 2017-10-27 -0.6 0.5 Uncertain significance 0 -426558 Simple 543809032 T . Uncertain significance 2 2 Osteogenesis imperfecta type I;not specified 2017-04-12 -0.6 0.0 Uncertain significance 0 -426570 Simple 768762059 T . Uncertain significance 2 2 not specified 2017-04-12 -0.5700000000000001 1.0 Uncertain significance 0 -426571 Simple 749237378 G . Uncertain significance 2 2 Eichsfeld type congenital muscular dystrophy;not specified 2017-05-24 -0.6 0.0 Uncertain significance 0 -426581 Simple 74162087 T . Uncertain significance 2 2 Singleton-Merten syndrome 1;not specified;Aicardi-goutieres syndrome 7 2017-07-25 -0.6 0.0 Uncertain significance 0 -426583 Simple 780437384 T . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-06-05 -0.6 0.0 Uncertain significance 0 -426584 Simple 139559495 T . Uncertain significance 2 2 Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified 2017-04-11 -0.6 0.5 Uncertain significance 0 -426591 Simple 1085307699 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 4;not specified 2017-04-11 -0.6 0.0 Uncertain significance 0 -426641 Simple 985654114 C . Uncertain significance 2 2 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified 2017-08-09 -0.6 0.0 Uncertain significance 0 -426661 Simple 895822620 A . Uncertain significance 2 2 Citrullinemia type I;not specified 2017-07-14 -0.6 0.0 Uncertain significance 0 -426753 Simple 201752325 A . Uncertain significance 2 2 not specified;not provided 2017-04-05 -0.6 0.5 Uncertain significance 0 -426951 Simple 147794116 G . Uncertain significance 2 2 not specified;Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 2017-08-22 -0.6 0.0 Uncertain significance 0 -426958 Simple 376237905 T . Uncertain significance 2 2 Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c 2017-05-30 -0.6 0.0 Uncertain significance 0 -426960 Simple 201692151 C . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-07-12 -0.6 0.0 Uncertain significance 0 -426994 Simple 200128670 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-07 -0.6 0.5 Uncertain significance 0 -427188 Simple 1085308012 C . Pathogenic/Likely pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2015-04-19 6.9 3.0 Likely pathogenic 1 -427244 Simple 745902915 G . Benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427245 Simple 747489126 A . Benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427246 Simple 80357033 G . Benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427247 Simple 1131692065 G . Benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427248 Simple 773013395 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427249 Simple 879253999 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427250 Simple 1131692066 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427251 Simple 1131692067 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427252 Simple 1800707 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427253 Simple 1131692068 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427254 Simple 1131692069 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427255 Simple 1131692070 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427256 Simple 1131692071 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427257 Simple 1131692072 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427258 Simple 1131692073 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427259 Simple 1131692074 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427260 Simple 1131692075 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427261 Simple 1131692076 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427262 Simple 80356828 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427263 Simple 1131692077 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427264 Simple 978690648 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -427265 Simple 1131692078 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427266 Simple 1800063 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427267 Simple 1131692079 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427268 Simple 1131692080 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427269 Simple 80356888 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427270 Simple 1131692081 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427271 Simple 1131692082 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427272 Simple 1131692083 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427273 Simple 1131692084 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427274 Simple 1064793596 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427275 Simple 1131692085 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427276 Simple 1131692086 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427277 Simple 1131692087 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427278 Simple 1131692088 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427279 Simple 1131692089 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427280 Simple 1131692090 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427281 Simple 1131692091 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427282 Simple 1131692092 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427283 Simple 1131692093 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427284 Simple 1131692094 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427285 Simple 786202068 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427286 Simple 1131692095 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427287 Simple 1131692096 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427288 Simple 1131692097 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427289 Simple 770579978 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -427290 Simple 772759939 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427291 Simple 1131692098 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427292 Simple 777491912 A . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.0 Benign/Likely benign 1 -427293 Simple 779227326 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427294 Simple 758329415 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427295 Simple 778400777 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427296 Simple 369363742 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427297 Simple 759157605 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427298 Simple 753735698 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427299 Simple 587779367 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427300 Simple 587781833 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427301 Simple 758449088 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427302 Simple 398122675 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427303 Simple 572835027 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427304 Simple 761293595 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427305 Simple 771892131 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427306 Simple 781319410 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427307 Simple 757657445 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427308 Simple 779507799 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -427309 Simple 776115545 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427310 Simple 777297026 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427311 Simple 398122635 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427312 Simple 776070899 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427313 Simple 752122039 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -427314 Simple 779253414 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427315 Simple 80357431 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427316 Simple 200648498 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427317 Simple 751856943 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427318 Simple 754970915 C . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427319 Simple 776542749 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427320 Simple 748285767 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427321 Simple 376736915 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427322 Simple 759197544 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427323 Simple 766700840 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427324 Simple 571834423 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427325 Simple 779225364 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427326 Simple 530914551 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427327 Simple 778359104 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427328 Simple 398122684 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427329 Simple 774583925 T . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427330 Simple 80356936 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427331 Simple 779704727 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427332 Simple 752940034 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427333 Simple 767459025 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427334 Simple 764013144 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427335 Simple 780485347 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427336 Simple 777828258 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427337 Simple 200616937 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427338 Simple 765241963 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427339 Simple 766934857 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427340 Simple 777595821 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427341 Simple 1131692099 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427342 Simple 780239567 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427343 Simple 752824502 G . Likely benign 3 3 Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -427344 Simple 771001707 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427345 Simple 778215185 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427346 Simple 752875919 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427347 Simple 139858874 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427348 Simple 755706172 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427349 Simple 749522068 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427350 Simple 753081589 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427351 Simple 755731300 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427352 Simple 752808917 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427353 Simple 754256578 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427354 Simple 757971617 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427355 Simple 777404687 A . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427356 Simple 139433219 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427357 Simple 775837744 G . Likely benign 3 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427358 Simple 772885662 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427359 Simple 549640262 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427360 Simple 762867923 T . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427361 Simple 762642319 C . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427362 Simple 777371808 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427363 Simple 73983787 G . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427364 Simple 753210219 A . Likely benign 3 1 Breast-ovarian cancer, familial 1 2017-06-29 . 0.0 . 0 -427365 Simple 1131692100 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427366 Simple 1131692101 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427367 Simple 1131692102 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427368 Simple 1131692103 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -3.5999999999999996 0.0 Uncertain significance 2 -427369 Simple 1131692104 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427370 Simple 1131692105 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427371 Simple 1131692106 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -3.5999999999999996 0.0 Uncertain significance 2 -427372 Simple 1131692107 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427373 Simple 1131692108 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427374 Simple 1131692109 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427375 Simple 1131692110 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427376 Simple 1131692111 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427377 Simple 28897707 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427378 Simple 1131692112 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -427379 Simple 1060502412 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427380 Simple 1057520745 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -3.5999999999999996 0.0 Uncertain significance 2 -427381 Simple 786202020 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427382 Simple 1131692113 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427383 Simple 1131692114 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427384 Simple 1131692115 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -3.5999999999999996 0.5 Uncertain significance 2 -427385 Simple 1131692116 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427386 Simple 192892005 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427387 Simple 1131692117 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427388 Simple 1131692118 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427389 Simple 1131692119 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427390 Simple 80358539 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427391 Simple 276174888 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427392 Simple 779967765 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427393 Simple 1131692120 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427394 Simple 1131692121 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427395 Simple 1131692122 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427396 Simple 786201647 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427397 Simple 9590940 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427398 Simple 276174808 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427399 Simple 1131692123 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427400 Simple 1131692124 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427401 Simple 1131692125 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427402 Simple 1131692126 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427403 Simple 397507987 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427404 Simple 1131692127 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427405 Simple 1131692128 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427406 Simple 1131692129 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427407 Simple 1131692130 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -427408 Simple 1131692131 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427409 Simple 1131692132 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427410 Simple 1131692133 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427411 Simple 372527810 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -427412 Simple 1131692134 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427413 Simple 1131692135 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427414 Simple 276174806 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427415 Simple 745588537 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427416 Simple 1131692136 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427417 Simple 1131692137 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427418 Simple 1131692138 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427419 Simple 1131692139 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427420 Simple 557258016 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427421 Simple 1131692140 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427422 Simple 1131692141 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427423 Simple 1131692142 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427424 Simple 876659230 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427425 Simple 769535925 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -9.6 0.5 Benign/Likely benign 1 -427426 Simple 730881591 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427427 Simple 543172402 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427428 Simple 80358972 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427429 Simple 777390929 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427430 Simple 774410550 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427431 Simple 756185318 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427432 Simple 770465089 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427433 Simple 752685860 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427434 Simple 569080122 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427435 Simple 756724277 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427436 Simple 80358486 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427437 Simple 750805758 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427438 Simple 764584497 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427439 Simple 755111487 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427440 Simple 556893517 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427441 Simple 80358489 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427442 Simple 757501907 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427443 Simple 756522027 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427444 Simple 775407297 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427445 Simple 747048245 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427446 Simple 755908353 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427447 Simple 775882736 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427448 Simple 756859735 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427449 Simple 746413844 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427450 Simple 755877503 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427451 Simple 780919805 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427452 Simple 188234310 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427453 Simple 757664122 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427454 Simple 781452016 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427455 Simple 754883505 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 0.6666666666666666 Benign/Likely benign 1 -427456 Simple 772324268 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427457 Simple 749138071 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427458 Simple 554663691 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -427459 Simple 760304057 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427460 Simple 749871912 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427461 Simple 752311184 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427462 Simple 746348738 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427463 Simple 780535833 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427464 Simple 749053313 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427465 Simple 747281144 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427466 Simple 751397718 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427467 Simple 776059220 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427468 Simple 773412718 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427469 Simple 769677997 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.0 Benign/Likely benign 1 -427470 Simple 762189076 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427471 Simple 397507301 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427472 Simple 1131692143 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427473 Simple 756797448 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427474 Simple 751023453 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427475 Simple 776556224 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427476 Simple 1131692144 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427477 Simple 779075029 C . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.3333333333333333 Benign/Likely benign 1 -427478 Simple 864622449 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427479 Simple 758336001 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427480 Simple 759293475 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427481 Simple 773035582 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -427482 Simple 759420926 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427483 Simple 778426874 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427484 Simple 372951842 T . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -9.0 1.0 Benign/Likely benign 1 -427485 Simple 772004723 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427486 Simple 760681272 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427487 Simple 749387616 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427488 Simple 763714374 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427489 Simple 766887680 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427490 Simple 770199777 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427491 Simple 151275325 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427492 Simple 528810278 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427493 Simple 749491255 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427494 Simple 764698623 A . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.6666666666666666 Likely benign 0 -427495 Simple 761305496 C . Likely benign 3 4 Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.25 Benign/Likely benign 1 -427496 Simple 750435643 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427497 Simple 767150281 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427498 Simple 749636710 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427499 Simple 758430181 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -3.5999999999999996 0.0 Uncertain significance 2 -427500 Simple 570826002 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427501 Simple 756883537 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427502 Simple 771011424 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427503 Simple 752218391 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427504 Simple 761858047 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427505 Simple 771101539 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427506 Simple 776881072 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.3 0.25 Benign/Likely benign 1 -427507 Simple 759357549 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427508 Simple 772265912 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427509 Simple 746783617 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427510 Simple 770137271 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427511 Simple 775952688 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427512 Simple 373696964 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -427513 Simple 773112850 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427514 Simple 769582388 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427515 Simple 746734303 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427516 Simple 780514435 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427517 Simple 781363913 T . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427518 Simple 752976575 C . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -427519 Simple 767596766 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427520 Simple 276174805 A . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.0 Likely benign 0 -427521 Simple 781587561 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.3 0.5 Likely benign 0 -427522 Simple 779677234 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427523 Simple 751515572 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427524 Simple 781722399 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427525 Simple 751417001 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427526 Simple 771061558 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;not specified 2017-06-29 -6.3 0.5 Likely benign 0 -427527 Simple 749748066 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427528 Simple 763852568 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427529 Simple 201561974 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427530 Simple 1131692145 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427531 Simple 760647691 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427532 Simple 767290713 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427533 Simple 767693329 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427534 Simple 766659380 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427535 Simple 755703024 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427536 Simple 527579384 A . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427537 Simple 80358825 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427538 Simple 758869410 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427539 Simple 587780648 T . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427540 Simple 748982373 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.75 Benign/Likely benign 1 -427541 Simple 200942633 G . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -11.7 0.75 Benign/Likely benign 1 -427542 Simple 192049298 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427543 Simple 200185407 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427544 Simple 752179294 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427545 Simple 377730276 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427546 Simple 762439990 G . Likely benign 3 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 1.0 Likely benign 0 -427547 Simple 747773227 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427548 Simple 760122577 C . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427549 Simple 774425707 G . Likely benign 3 3 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -9.3 0.0 Benign/Likely benign 1 -427550 Simple 751396548 G . Likely benign 3 1 Breast-ovarian cancer, familial 2 2017-06-29 . 0.0 . 0 -427551 Simple 1799955 T . Likely benign 3 4 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -427581 Simple 1085308041 G . Pathogenic 2 3 PTEN hamartoma tumor syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-09-25 18.0 0.3333333333333333 Pathogenic 0 -427585 Simple 587776667 C . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-08-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -427596 Simple 1085308054 - . Pathogenic 2 2 PTEN hamartoma tumor syndrome 2017-03-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -427599 Simple 1085308056 G . Pathogenic/Likely pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-03-01 9.0 1.0 Pathogenic/Likely pathogenic 0 -427602 Simple 587779101 G . Uncertain significance 3 1 Lynch syndrome I 2016-11-03 . 1.0 . 0 -427603 Simple 1085308057 G . Likely pathogenic 3 2 Lynch syndrome I;Hereditary cancer-predisposing syndrome 2016-11-03 5.699999999999999 2.0 Likely pathogenic 0 -427604 Simple 1085308058 AG . Uncertain significance 3 1 Lynch syndrome I 2016-04-20 . 1.0 . 0 -427605 Simple 1085308059 A . Uncertain significance 3 1 Lynch syndrome I 2016-04-20 . 1.0 . 0 -427606 Simple 28929483 A . Uncertain significance 3 1 Lynch syndrome I 2016-04-20 . 1.0 . 0 -427607 Simple 769279475 A . Uncertain significance 3 1 Lynch syndrome I 2016-04-20 . 1.0 . 0 -427608 Simple 1085308060 C . Uncertain significance 3 1 Lynch syndrome I 2016-04-20 . 1.0 . 0 -427609 Simple . . . Pathogenic 3 1 Lynch syndrome I 2016-04-20 . 1.0 . 0 -427610 Simple . . . Pathogenic 3 1 Lynch syndrome I 2016-04-20 . 1.0 . 0 -427611 Simple . . . Pathogenic 3 1 Lynch syndrome I 2016-04-20 . 1.0 . 0 -427616 Simple 1114167621 A . Pathogenic 2 3 Cowden syndrome 1;not provided;Hereditary cancer-predisposing syndrome 2017-09-12 16.8 1.3333333333333333 Pathogenic 0 -427953 Simple 749032742 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-10-10 -0.6 0.5 Uncertain significance 0 -427958 Simple 773819168 A . Uncertain significance 2 2 not specified;Prolonged QT interval 2017-06-27 -0.6 0.0 Uncertain significance 0 -427964 Simple 141873745 A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-07-13 -0.6 0.0 Uncertain significance 0 -428000 Simple 147989574 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-03-17 -0.6 0.5 Uncertain significance 0 -428012 Simple 398124437 G . Pathogenic/Likely pathogenic 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-04-17 6.6 2.5 Likely pathogenic 1 -428016 Simple 1114167480 G . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-08 6.0 0.5 Likely pathogenic 0 -428018 Simple 1114167482 T . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-02-21 10.2 2.5 Pathogenic/Likely pathogenic 1 -428025 Simple 1114167489 G . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-11-06 7.5 3.0 Likely pathogenic 1 -428028 Simple 377461506 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-08-07 -0.51 2.0 Uncertain significance 0 -428032 Simple 1114167494 A . Pathogenic/Likely pathogenic 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-14 9.0 1.0 Pathogenic/Likely pathogenic 0 -428034 Simple 386134250 A . Pathogenic/Likely pathogenic 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-06-29 8.4 1.0 Pathogenic/Likely pathogenic 0 -428038 Simple 757417271 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-22 -5.4 1.5 Likely benign 0 -428047 Simple 1114167507 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-03 -0.5700000000000001 1.0 Uncertain significance 0 -428066 Simple 1114167524 GGAC . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-07-14 11.4 1.0 Pathogenic/Likely pathogenic 1 -428080 Simple 1114167536 . . Pathogenic 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-04-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -428081 Simple 794728652 T . Pathogenic/Likely pathogenic 2 2 not specified;Hereditary cancer-predisposing syndrome;Metastatic pancreatic neuroendocrine tumours 2017-11-01 12.0 1.0 Pathogenic/Likely pathogenic 0 -428094 Simple 961108427 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -428097 Simple 1114167548 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-07 -0.51 2.0 Uncertain significance 0 -428106 Simple 141576417 T . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-23 11.4 1.0 Pathogenic/Likely pathogenic 1 -428108 Simple 1114167556 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-25 -0.54 1.5 Uncertain significance 0 -428112 Simple 1114167560 . . Conflicting interpretations of pathogenicity 1 2 not specified;not provided;Hereditary cancer-predisposing syndrome 2016-05-06 5.76 2.0 Likely pathogenic 2 -428125 Simple 1114167569 A . Pathogenic 2 1 Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-12-29 . 1.0 . 0 -428126 Simple 1114167570 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-21 -5.4 1.5 Likely benign 0 -428139 Simple 1114167580 G . Pathogenic 1 1 Hereditary cancer-predisposing syndrome 2015-10-12 . 2.0 . 0 -428155 Simple 1114167594 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-06-17 10.8 2.0 Pathogenic/Likely pathogenic 1 -428176 Simple 150543576 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-11 -0.6 0.5 Uncertain significance 0 -428203 Simple 1114167629 T . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-02-23 12.0 1.0 Pathogenic/Likely pathogenic 1 -428220 Simple 1114167645 C . Likely pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-08-14 6.0 0.5 Likely pathogenic 0 -428256 Simple 587782603 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-08-16 8.4 1.5 Pathogenic/Likely pathogenic 0 -428304 Simple 63750523 . . Likely pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-28 5.4 2.0 Likely pathogenic 0 -428307 Simple 1114167702 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-21 10.8 1.5 Pathogenic/Likely pathogenic 1 -428316 Simple 1114167709 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-08-31 10.8 2.0 Pathogenic/Likely pathogenic 1 -428317 Simple 1114167710 - . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-11-22 10.8 2.0 Pathogenic/Likely pathogenic 1 -428321 Simple 1114167713 - . Pathogenic 2 2 Hereditary nonpolyposis colorectal cancer type 5;Hereditary cancer-predisposing syndrome 2017-03-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -428322 Simple 1114167714 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-13 12.0 1.0 Pathogenic/Likely pathogenic 1 -428323 Simple 1114167715 AGC . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -428331 Simple 1114167722 . . Pathogenic/Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-29 9.0 0.5 Pathogenic/Likely pathogenic 0 -428337 Simple 63750617 G . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-10-09 -0.45 3.5 Uncertain significance 0 -428342 Simple 267608068 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2014-05-12 -0.42 4.0 Uncertain significance 0 -428343 Simple 1114167728 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-06 10.8 1.5 Pathogenic/Likely pathogenic 1 -428365 Simple 1114167745 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-07 -0.54 1.5 Uncertain significance 0 -428367 Simple 760771483 A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-25 -8.7 1.0 Benign/Likely benign 1 -428374 Simple 749012012 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-06 -0.54 1.5 Uncertain significance 0 -428379 Simple 267608055 G . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-09-08 10.8 2.0 Pathogenic/Likely pathogenic 1 -428380 Simple 200944853 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-04 -0.6 0.5 Uncertain significance 0 -428393 Simple 1114167765 - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-23 11.4 1.0 Pathogenic/Likely pathogenic 1 -428405 Simple 751035257 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -428412 Simple 765411990 A . Pathogenic 2 1 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-03-28 . 1.0 . 0 -428415 Simple 1114167778 . . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -0.6 0.5 Uncertain significance 0 -428427 Simple 1114167788 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-09 -0.6 1.0 Uncertain significance 0 -428434 Simple 1114167795 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-17 -0.6 0.5 Uncertain significance 0 -428446 Simple 267607982 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-02 12.0 0.0 Pathogenic/Likely pathogenic 1 -428455 Simple 1114167811 G . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2013-07-11 7.800000000000001 4.5 Likely pathogenic 2 -428462 Simple 63750364 T . Pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2014-12-04 9.0 3.5 Pathogenic/Likely pathogenic 1 -428467 Simple 1114167817 - . Pathogenic 2 1 Lynch syndrome;Hereditary cancer-predisposing syndrome 2015-01-20 . 3.0 . 0 -428496 Simple 979212552 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-25 9.6 2.5 Pathogenic/Likely pathogenic 1 -428498 Simple 730881762 T . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-22 18.0 0.3333333333333333 Pathogenic 0 -428559 Simple 1114167883 T . Pathogenic/Likely pathogenic 2 4 Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-11 17.4 2.25 Pathogenic 1 -428618 Simple 1131690808 A . Pathogenic/Likely pathogenic 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-21 6.6 2.5 Likely pathogenic 1 -428620 Simple 1131690809 - . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-17 9.0 0.5 Pathogenic/Likely pathogenic 0 -428637 Simple 1131690825 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-05 10.8 1.5 Pathogenic/Likely pathogenic 1 -428641 Simple 754616167 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-06 12.0 0.0 Pathogenic/Likely pathogenic 1 -428681 Simple 1131690863 T . Pathogenic 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-04-21 12.0 0.0 Pathogenic/Likely pathogenic 1 -428742 Simple 764754259 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-10 9.6 2.5 Pathogenic/Likely pathogenic 1 -428749 Simple 778376925 G . Pathogenic 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-21 10.8 1.5 Pathogenic/Likely pathogenic 1 -428750 Simple 778376925 A . Pathogenic 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-11 9.6 2.5 Pathogenic/Likely pathogenic 1 -428776 Simple 1131690940 T . Pathogenic 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 10.8 1.5 Pathogenic/Likely pathogenic 1 -428787 Simple 1131690950 A . Pathogenic 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -428789 Simple 587782287 A . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -428849 Simple 1131690995 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -428868 Simple 11575996 T . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-18 5.4 1.5 Likely pathogenic 0 -428910 Simple 864622149 T . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-01 6.0 0.5 Likely pathogenic 0 -428932 Simple 1131691061 T . Pathogenic/Likely pathogenic 2 2 Paragangliomas 4;Hereditary cancer-predisposing syndrome 2017-08-24 9.0 0.0 Pathogenic/Likely pathogenic 0 -428946 Simple 1131691072 T . Pathogenic 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-21 10.8 2.0 Pathogenic/Likely pathogenic 1 -428953 Simple 1131691077 G . Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-19 5.4 2.0 Likely pathogenic 0 -428975 Simple 1131691096 T . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-02 11.4 1.5 Pathogenic/Likely pathogenic 1 -428991 Simple 1131691111 - . Pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-14 11.4 1.0 Pathogenic/Likely pathogenic 1 -429007 Simple 1131691126 A . Pathogenic 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-06 12.0 0.5 Pathogenic/Likely pathogenic 1 -429014 Simple 1131691131 T . Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-23 6.0 1.0 Likely pathogenic 0 -429049 Simple 1019221239 G . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2016-08-15 10.2 2.5 Pathogenic/Likely pathogenic 1 -429056 Simple 1131691143 - . Pathogenic 2 4 not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis 2017-09-05 19.8 2.5 Pathogenic 0 -429062 Simple 1131691149 A . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-05 18.0 0.6666666666666666 Pathogenic 0 -429063 Simple 1131691150 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-28 -0.6 0.5 Uncertain significance 0 -429084 Simple 1131691164 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-16 11.4 1.0 Pathogenic/Likely pathogenic 1 -429113 Simple 1131691189 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-08-23 9.6 2.5 Pathogenic/Likely pathogenic 1 -429146 Simple 745445238 - . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-21 -6.0 0.5 Likely benign 0 -429157 Simple 1131691225 A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-27 10.2 2.0 Pathogenic/Likely pathogenic 1 -429169 Simple 1131691235 - . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2015-09-27 10.2 2.5 Pathogenic/Likely pathogenic 1 -429176 Simple 752232718 C . Pathogenic/Likely pathogenic 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-05-08 9.0 0.5 Pathogenic/Likely pathogenic 0 -429230 Simple 141105787 C . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 1;not specified 2017-05-03 -0.6 0.5 Uncertain significance 0 -429245 Simple 376638828 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-05-01 -0.6 0.5 Uncertain significance 0 -429278 Simple 1131691296 AT . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-05-02 -0.6 0.5 Uncertain significance 0 -429323 Simple 779614415 G . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-14 -0.6 0.0 Uncertain significance 0 -429367 Simple 148918820 T . Uncertain significance 2 2 not specified 2017-04-27 -0.6 0.5 Uncertain significance 0 -429457 Simple 373555806 G . Uncertain significance 2 2 not specified;Epileptic encephalopathy, childhood-onset 2017-05-02 -0.6 0.5 Uncertain significance 0 -429493 Simple 765747662 T . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-06-04 -0.6 0.0 Uncertain significance 0 -429509 Simple 377062348 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-11 -0.6 0.0 Uncertain significance 0 -429658 Simple 1131691515 T . Likely pathogenic 2 2 not provided;Epileptic encephalopathy, childhood-onset 2016-09-30 5.7 1.5 Likely pathogenic 0 -429671 Simple 779483120 T . Uncertain significance 2 2 not specified 2017-06-14 -0.6 0.0 Uncertain significance 0 -429705 Simple 192461213 A . Uncertain significance 2 2 not specified;not provided 2017-05-31 -0.6 0.0 Uncertain significance 0 -429748 Simple 138120231 G . Uncertain significance 2 3 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -429771 Simple 1131691584 C . Likely pathogenic 2 2 not provided 2017-05-09 5.7 1.0 Likely pathogenic 0 -429826 Simple 1131691616 A . Pathogenic/Likely pathogenic 2 2 not provided 2017-04-13 8.4 1.0 Pathogenic/Likely pathogenic 0 -429836 Simple 189360899 C . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-05-16 -0.6 0.5 Uncertain significance 0 -429840 Simple 1131691627 A . Pathogenic/Likely pathogenic 2 2 not provided;Autism, susceptibility to, 18 2016-10-12 8.4 1.5 Pathogenic/Likely pathogenic 0 -429858 Simple 202118861 G . Uncertain significance 2 2 Osteogenesis imperfecta type 7;not specified 2017-05-11 -0.6 0.5 Uncertain significance 0 -429864 Simple 144336336 G . Uncertain significance 2 2 Osteogenesis imperfecta type 8;not specified 2017-06-14 -0.6 0.0 Uncertain significance 0 -429913 Simple 1131691668 T . Pathogenic/Likely pathogenic 2 2 not provided;Bainbridge-Ropers syndrome 2017-09-29 8.7 1.0 Pathogenic/Likely pathogenic 0 -429940 Simple 1131691686 A . Pathogenic/Likely pathogenic 2 2 Hereditary hemorrhagic telangiectasia type 2;not provided 2017-02-03 9.0 1.0 Pathogenic/Likely pathogenic 0 -429953 Simple 1131691697 . . Uncertain significance 2 2 not specified 2017-05-18 -0.6 0.0 Uncertain significance 0 -429979 Simple 1131691708 - . Pathogenic 2 2 Brugada syndrome;not provided 2017-05-02 12.0 0.0 Pathogenic/Likely pathogenic 1 -430012 Simple 1131691731 T . Pathogenic 2 2 Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided 2016-05-17 10.2 2.5 Pathogenic/Likely pathogenic 1 -430042 Simple 925693368 T . Uncertain significance 2 2 Dilated cardiomyopathy 1DD;not specified 2017-05-12 -0.6 0.0 Uncertain significance 0 -430074 Simple 958366800 T . Uncertain significance 2 2 not specified 2017-04-24 -0.6 0.5 Uncertain significance 0 -430075 Simple 868384150 A . Uncertain significance 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-07-21 -0.6 0.0 Uncertain significance 0 -430217 Simple 199907548 C . Likely pathogenic 2 2 not provided;Hereditary cutaneous melanoma 2017-06-19 5.7 1.0 Likely pathogenic 0 -430293 Simple 181618883 A . Uncertain significance 2 2 Familial hemiplegic migraine;not specified 2017-06-11 -0.6 0.0 Uncertain significance 0 -430302 Simple 144091542 T . Uncertain significance 2 2 not specified;Myasthenic syndrome, congenital, 8 2017-05-22 -0.6 0.5 Uncertain significance 0 -430330 Simple 202175941 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-07-27 -0.6 0.0 Uncertain significance 0 -430347 Simple 780406577 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-06-08 -0.6 0.0 Uncertain significance 0 -430351 Simple 376969878 T . Uncertain significance 2 2 Joubert syndrome;Meckel-Gruber syndrome;not specified 2017-05-25 -0.6 0.0 Uncertain significance 0 -430360 Simple 138904328 A . Uncertain significance 2 2 not specified;Telangiectasia, hereditary hemorrhagic, type 5 2017-06-07 -0.6 0.0 Uncertain significance 0 -430407 Simple 373569964 A . Uncertain significance 2 2 Purine-nucleoside phosphorylase deficiency;not specified 2017-05-19 -0.6 0.5 Uncertain significance 0 -430470 Simple 754142863 T . Likely pathogenic 2 2 not provided;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 6.0 0.0 Likely pathogenic 0 -430505 Simple 780615753 T . Uncertain significance 2 2 Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified 2017-07-10 -0.6 0.0 Uncertain significance 0 -430538 Simple 373125283 T . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-07-20 -0.6 0.0 Uncertain significance 0 -430553 Simple 759515993 T . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-05-21 -0.6 0.0 Uncertain significance 0 -430591 Simple . C . Pathogenic 2 1 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2017-05-16 . 0.0 . 0 -430597 Simple . AAAA . Pathogenic 2 1 Neoplasm of the breast;Hereditary cancer-predisposing syndrome 2015-10-11 . 2.0 . 0 -430786 Simple 1131692216 T . Pathogenic/Likely pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 8.7 1.0 Pathogenic/Likely pathogenic 0 -430798 Simple 1131692223 - . Pathogenic 2 2 Familial hypercholesterolemia 2017-03-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -430967 Simple 1131692280 A . Pathogenic 2 2 Polycystic kidney disease 2;Polycystic kidney disease, autosomal dominant 2017-06-30 11.4 1.0 Pathogenic/Likely pathogenic 1 -431015 Simple 1131692244 T . Uncertain significance 2 1 Primary dilated cardiomyopathy;not specified 2017-08-04 . 0.0 . 0 -431186 Simple 1135401828 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -431191 Simple 397507336 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -431254 Simple 1135401868 - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -431328 Simple 1135401914 - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-03-09 12.0 0.0 Pathogenic/Likely pathogenic 1 -431382 Simple 1135401953 T . Pathogenic 2 2 Osteogenesis imperfecta type I;not provided 2017-10-20 12.0 0.0 Pathogenic/Likely pathogenic 1 -431505 Simple 376713337 C . Uncertain significance 2 2 Familial hypercholesterolemia 2016-03-01 -0.54 2.0 Uncertain significance 0 -431546 Simple . . . Pathogenic 2 2 Familial hypercholesterolemia 2016-03-01 10.8 2.0 Pathogenic/Likely pathogenic 1 -431559 Simple 759099468 T . Uncertain significance 2 2 Hypercholesterolemia, autosomal dominant, 3;Familial hypercholesterolemia 2017-05-16 -0.5700000000000001 1.0 Uncertain significance 0 -431804 Simple . T . Pathogenic 2 2 Hypocalciuric hypercalcemia, familial, type 1;not provided;Hypocalcemia, autosomal dominant 1 2017-05-08 12.0 0.0 Pathogenic/Likely pathogenic 1 -431830 Simple . G . Uncertain significance 2 2 not specified 2017-06-07 -0.6 0.5 Uncertain significance 0 -431853 Simple 186012808 A . Uncertain significance 2 2 Brody myopathy;not specified 2017-06-07 -0.6 0.5 Uncertain significance 0 -431854 Simple 765070826 A . Uncertain significance 2 2 not specified;not provided 2017-06-23 -0.6 0.0 Uncertain significance 0 -431886 Simple 201975081 G . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1KK 2017-05-26 -0.6 0.5 Uncertain significance 0 -431892 Simple 753407311 G . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-08-01 -0.6 0.5 Uncertain significance 0 -431939 Simple 754576717 A . Likely pathogenic 2 2 not provided 2017-04-28 6.0 0.5 Likely pathogenic 0 -431964 Simple 762806915 A . Pathogenic 2 2 not provided 2017-06-30 12.0 0.0 Pathogenic/Likely pathogenic 1 -431973 Simple 762263694 A . Pathogenic/Likely pathogenic 2 3 Maturity-onset diabetes of the young, type 2;not provided 2017-06-21 15.0 0.6666666666666666 Pathogenic 1 -431976 Simple . A . Likely pathogenic 2 3 Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome 2017-07-24 8.7 0.6666666666666666 Pathogenic/Likely pathogenic 1 -431977 Simple . C . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-06-02 9.0 0.5 Pathogenic/Likely pathogenic 0 -431982 Simple . . . Pathogenic/Likely pathogenic 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;Thoracic aortic Aneurysm and dissection (TAAD) 2017-06-22 9.0 0.0 Pathogenic/Likely pathogenic 0 -431994 Simple 751604696 T . Pathogenic/Likely pathogenic 2 2 Smith-Lemli-Opitz syndrome;not provided 2017-05-31 8.7 1.0 Pathogenic/Likely pathogenic 0 -432012 Simple 769540174 . . Pathogenic/Likely pathogenic 2 1 Spondyloepiphyseal dysplasia with congenital joint dislocations;not provided 2017-06-12 . 0.0 . 0 -432020 Simple 767216577 G . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-06-12 -0.6 0.5 Uncertain significance 0 -432059 Simple . T . Pathogenic/Likely pathogenic 2 2 Maple syrup urine disease;not provided 2017-07-07 8.7 1.0 Pathogenic/Likely pathogenic 0 -432062 Simple . C . Likely pathogenic 2 2 Pitt-Hopkins syndrome;not provided 2016-10-05 5.7 1.5 Likely pathogenic 0 -432231 Simple 532143625 G . Uncertain significance 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-07-27 -0.6 0.0 Uncertain significance 0 -432235 Simple 755783536 A . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-06-22 -0.6 0.0 Uncertain significance 0 -432237 Simple 117350233 T . Uncertain significance 2 2 Brody myopathy;not specified 2017-08-11 -0.6 0.0 Uncertain significance 0 -432244 Simple 148817957 C . Uncertain significance 2 2 not specified 2017-03-09 -0.6 0.5 Uncertain significance 0 -432250 Simple 201785610 T . Uncertain significance 2 2 not specified;not provided 2017-04-18 -0.6 0.0 Uncertain significance 0 -432286 Simple 201741634 T . Uncertain significance 2 3 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-06-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -432309 Simple 138509817 G . Uncertain significance 2 3 not specified 2017-07-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -432397 Simple 774590964 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2017-05-30 -0.6 0.5 Uncertain significance 0 -432422 Simple 145039481 C . Uncertain significance 2 2 Primary familial hypertrophic cardiomyopathy;not specified 2017-06-01 -0.6 0.5 Uncertain significance 0 -432461 Simple 781977997 T . Uncertain significance 2 2 not specified;Dilated cardiomyopathy 1JJ 2017-07-16 -0.6 0.0 Uncertain significance 0 -432531 Simple 946543006 C . Uncertain significance 2 2 Shprintzen-Goldberg syndrome;not specified 2017-07-06 -0.6 0.0 Uncertain significance 0 -432537 Simple 777201941 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2F;not specified 2017-06-06 -0.6 0.0 Uncertain significance 0 -432550 Simple 779771679 A . Uncertain significance 2 3 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-06-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -432582 Simple 61742716 T . Uncertain significance 2 2 not specified 2017-06-14 -0.6 0.0 Uncertain significance 0 -432627 Simple . T . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified 2017-06-06 -0.6 0.0 Uncertain significance 0 -432633 Simple 148703212 G . Uncertain significance 2 2 not specified 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -432670 Simple 745406632 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -432742 Simple . G . Uncertain significance 2 3 not specified;not provided 2017-06-16 -0.8999999999999999 0.0 Uncertain significance 0 -432801 Simple 150020260 C . Uncertain significance 2 2 not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -432808 Simple 773285595 A . Uncertain significance 2 2 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 2017-06-21 -0.6 0.5 Uncertain significance 0 -432873 Simple 142410102 C . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 14;not specified 2017-06-16 -0.6 0.5 Uncertain significance 0 -432929 Simple 757700986 C . Uncertain significance 2 2 not specified;Rasopathy 2017-06-16 -0.6 0.0 Uncertain significance 0 -432938 Simple 774056663 . . Likely pathogenic 2 3 not provided;Nonsyndromic Deafness;Usher syndrome 2017-09-07 9.0 0.0 Pathogenic/Likely pathogenic 1 -432998 Simple 200334340 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.0 Uncertain significance 0 -433616 Simple . . . Pathogenic 2 1 not provided;Familial adenomatous polyposis 2017-05-24 . 0.0 . 0 -433620 Simple 1060503333 A . Pathogenic 2 2 Familial adenomatous polyposis 1;Familial adenomatous polyposis 2017-05-16 9.6 2.5 Pathogenic/Likely pathogenic 1 -433634 Simple 544709767 T . Uncertain significance 2 4 Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome 2017-07-27 -1.2 0.25 Uncertain significance 0 -433684 Simple 80358064 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2016-10-06 -0.5700000000000001 1.5 Uncertain significance 0 -433690 Simple 200449040 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-21 -0.6 0.5 Uncertain significance 0 -433711 Simple . G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-06 -0.54 1.5 Uncertain significance 0 -433716 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-01-12 -0.54 2.0 Uncertain significance 0 -433745 Simple 80358507 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -433751 Simple . - . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-05 -6.0 0.0 Likely benign 0 -433764 Simple . C . Uncertain significance 1 1 Hereditary cancer-predisposing syndrome 2016-09-22 . 1.0 . 0 -433783 Simple . A . Benign/Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-12 -7.8 1.5 Likely benign 1 -433785 Simple 28897729 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -433790 Simple 28897733 C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -433792 Simple 772772727 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-02 -0.54 2.0 Uncertain significance 0 -433793 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-29 -0.54 1.5 Uncertain significance 0 -433799 Simple . G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-07-08 -0.48 3.0 Uncertain significance 0 -433803 Simple 80359596 . . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 9.6 2.5 Pathogenic/Likely pathogenic 1 -433809 Simple . C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-19 -0.78 2.0 Uncertain significance 0 -433819 Simple 886040734 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-17 -0.54 2.0 Uncertain significance 0 -433827 Simple . A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-02-02 -0.51 2.5 Uncertain significance 0 -433862 Simple 57509953 . . Benign/Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-02-17 -7.2 2.5 Likely benign 1 -433872 Simple . - . Likely pathogenic 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 6.0 0.5 Likely pathogenic 0 -433892 Simple 41295290 G . Uncertain significance 2 4 Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-30 -1.08 1.75 Uncertain significance 0 -433900 Simple . AGA . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-07 -0.6 1.0 Uncertain significance 0 -433910 Simple . . . Pathogenic 2 2 Lynch syndrome;Hereditary nonpolyposis colon cancer 2017-05-22 10.8 1.5 Pathogenic/Likely pathogenic 1 -433918 Simple 780485157 C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.51 2.0 Uncertain significance 0 -433920 Simple . - . Pathogenic 2 1 Lynch syndrome;Hereditary cancer-predisposing syndrome 2016-05-18 . 1.0 . 0 -433921 Simple 766341781 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-03-21 -5.7 1.5 Likely benign 0 -433922 Simple . C . Uncertain significance 2 2 Lynch syndrome;Hereditary cancer-predisposing syndrome 2017-08-09 -0.48 2.5 Uncertain significance 0 -433938 Simple 972113626 A . Benign/Likely benign 2 2 not specified 2017-04-27 -9.0 0.5 Benign/Likely benign 0 -433940 Simple 374518168 T . Benign 2 2 not specified 2016-11-23 -12.0 1.0 Benign/Likely benign 1 -433942 Simple 13334842 A . Benign 1 1 not specified 2017-04-26 . 0.0 . 0 -433972 Simple . A . Pathogenic 2 2 Autosomal recessive polycystic kidney disease;not specified 2017-02-22 12.0 1.0 Pathogenic/Likely pathogenic 1 -433973 Simple 145217118 T . Benign/Likely benign 2 3 not specified 2016-09-30 -12.0 1.0 Benign/Likely benign 0 -433974 Simple 147685291 C . Benign/Likely benign 2 1 not specified 2017-02-20 . 1.0 . 0 -434043 Simple 142272833 A . Uncertain significance 2 2 not specified;not provided 2017-07-17 -0.5700000000000001 1.0 Uncertain significance 0 -434053 Simple 769518471 A . Pathogenic 2 2 Persistent hyperinsulinemic hypoglycemia of infancy;not provided 2015-11-25 10.8 2.0 Pathogenic/Likely pathogenic 1 -434063 Simple 781900720 G . Uncertain significance 2 2 not specified;not provided 2017-04-30 -0.6 0.0 Uncertain significance 0 -434068 Simple 138527794 A . Benign/Likely benign 2 2 not specified;Dyskeratosis congenita, autosomal dominant 6 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -434085 Simple 146212621 C . Likely benign 2 2 not specified;not provided 2017-08-24 -6.0 0.5 Likely benign 0 -434107 Simple 190000918 A . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 8 2016-11-23 -9.0 1.0 Benign/Likely benign 0 -434112 Simple 777420094 A . Uncertain significance 2 2 not specified 2017-10-31 -0.6 0.5 Uncertain significance 0 -434113 Simple 770605375 T . Uncertain significance 2 2 not specified 2017-10-13 -0.5700000000000001 1.0 Uncertain significance 0 -434116 Simple 150000674 T . Benign/Likely benign 2 2 Diabetes mellitus type 2;Hypoglycemia, neonatal, simulating foetopathia diabetica;not specified 2017-03-02 -9.0 1.0 Benign/Likely benign 0 -434118 Simple 35588791 A . Benign/Likely benign 2 2 Diabetes mellitus type 2;Hypoglycemia, neonatal, simulating foetopathia diabetica;not specified 2017-04-20 -9.0 0.5 Benign/Likely benign 0 -434215 Simple 758937084 - . Pathogenic 2 2 Spinocerebellar ataxia, autosomal recessive 10;not provided 2017-04-06 11.4 1.0 Pathogenic/Likely pathogenic 1 -434217 Simple 377553546 G . Uncertain significance 2 2 Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified 2016-10-17 -0.6 1.0 Uncertain significance 0 -434221 Simple 150000996 G . Uncertain significance 2 2 Hermansky Pudlak syndrome 2;not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -434248 Simple 147135554 G . Uncertain significance 2 2 not specified 2017-11-02 -0.6 0.5 Uncertain significance 0 -434254 Simple 3032358 - . Benign 2 2 Androgen resistance syndrome;Bulbo-spinal atrophy X-linked;not specified 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -434257 Simple 3032358 . . Benign/Likely benign 2 2 Androgen resistance syndrome;Bulbo-spinal atrophy X-linked;not specified 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -434260 Simple 746853821 - . Likely benign 2 2 Androgen resistance syndrome;Bulbo-spinal atrophy X-linked;not specified 2017-07-17 -6.0 0.5 Likely benign 0 -434264 Simple 746853821 - . Benign/Likely benign 2 2 Androgen resistance syndrome;Bulbo-spinal atrophy X-linked;not specified 2017-06-22 -9.0 0.5 Benign/Likely benign 0 -434431 Simple 545892367 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;not specified 2017-05-01 -6.0 0.5 Likely benign 0 -434492 Simple 752762669 - . Pathogenic/Likely pathogenic 2 2 Bardet-Biedl syndrome 12 2017-09-08 9.0 0.5 Pathogenic/Likely pathogenic 0 -434512 Simple 765233032 A . Uncertain significance 2 2 Bloom syndrome;not specified 2017-07-26 -0.6 0.5 Uncertain significance 0 -434518 Simple 142346283 A . Benign 2 2 not specified;Rigidity and multifocal seizure syndrome, lethal neonatal 2017-08-10 -12.0 0.0 Benign/Likely benign 1 -434519 Simple 139443843 A . Benign 2 2 not specified;Rigidity and multifocal seizure syndrome, lethal neonatal 2017-08-10 -12.0 0.0 Benign/Likely benign 1 -434527 Simple 144862123 A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -6.0 0.5 Likely benign 0 -434528 Simple 11571656 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-02 -6.0 0.5 Likely benign 0 -434533 Simple 772795886 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-17 -0.6 1.0 Uncertain significance 0 -434539 Simple 780020495 A . Pathogenic 2 2 Breast cancer, early-onset;Hereditary cancer-predisposing syndrome 2016-12-05 12.0 1.0 Pathogenic/Likely pathogenic 1 -434567 Simple 142108678 T . Benign/Likely benign 2 2 not specified;Immunodeficiency 11;B-cell expansion with NFKB and T-cell anergy 2017-08-07 -9.0 0.5 Benign/Likely benign 0 -434592 Simple 144191570 T . Uncertain significance 2 2 not specified;Rasopathy 2017-06-30 -0.6 0.5 Uncertain significance 0 -434620 Simple 73489339 G . Benign/Likely benign 2 2 not specified;Myopathy, centronuclear, 4 2017-04-03 -8.7 1.0 Benign/Likely benign 0 -434622 Simple 201044013 A . Uncertain significance 2 2 not specified 2017-05-05 -0.6 0.5 Uncertain significance 0 -434704 Simple 144237457 G . Uncertain significance 2 2 not specified;not provided 2017-03-31 -0.6 0.5 Uncertain significance 0 -434714 Simple 145433187 A . Uncertain significance 2 2 not specified 2017-11-03 -0.6 0.0 Uncertain significance 0 -434720 Simple 202084972 T . Uncertain significance 2 2 not specified 2017-08-15 -0.6 0.5 Uncertain significance 0 -434799 Simple 765950760 A . Uncertain significance 2 2 not specified 2017-11-02 -0.5700000000000001 1.0 Uncertain significance 0 -434831 Simple . A . Pathogenic 2 2 Rubinstein-Taybi syndrome;not provided 2017-01-19 11.4 1.5 Pathogenic/Likely pathogenic 1 -434832 Simple 150501885 T . Benign/Likely benign 2 2 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-05-18 -9.0 0.5 Benign/Likely benign 0 -434835 Simple 3917998 A . Benign 2 2 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-07-11 -12.0 0.0 Benign/Likely benign 1 -434836 Simple 138289951 T . Benign/Likely benign 2 2 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-06-28 -9.0 0.5 Benign/Likely benign 0 -434837 Simple 139332126 G . Benign/Likely benign 2 2 not specified;Neutropenia, severe congenital, 7, autosomal recessive 2017-07-11 -9.0 0.5 Benign/Likely benign 0 -434855 Simple 201492796 A . Likely benign 2 2 Dyskeratosis congenita;not specified 2017-06-29 -6.0 0.0 Likely benign 0 -434875 Simple 148279552 A . Benign/Likely benign 2 2 Warts, hypogammaglobulinemia, infections, and myelokathexis;not specified 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -434909 Simple 376771682 A . Uncertain significance 2 2 not specified;Spastic paraplegia 54, autosomal recessive 2016-09-05 -0.5700000000000001 1.5 Uncertain significance 0 -434970 Simple 116089522 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-06-05 -8.7 1.0 Benign/Likely benign 0 -434973 Simple 150603103 T . Benign/Likely benign 2 2 Charcot-Marie-Tooth disease, axonal, type 2O;not specified 2017-06-05 -8.7 1.0 Benign/Likely benign 0 -434998 Simple 376492799 A . Uncertain significance 2 2 not specified 2017-07-11 -0.5700000000000001 1.0 Uncertain significance 0 -435011 Simple . - . Pathogenic/Likely pathogenic 2 2 Mental retardation, autosomal dominant 7 2017-04-22 9.0 0.5 Pathogenic/Likely pathogenic 0 -435039 Simple 373083497 T . Likely benign 2 2 Chromosome 9q deletion syndrome;not specified 2017-07-20 -6.0 0.0 Likely benign 0 -435079 Simple 565249189 G . Likely benign 2 2 Xeroderma pigmentosum, group F;Cockayne syndrome;not specified;Fanconi anemia, complementation group Q 2017-02-22 -6.0 1.0 Likely benign 0 -435094 Simple 756235299 C . Likely pathogenic 2 2 Ethylmalonic encephalopathy;not provided 2017-07-07 6.0 0.5 Likely pathogenic 0 -435102 Simple 200119306 G . Benign/Likely benign 2 3 Chondroectodermal dysplasia;Curry-Hall syndrome;not specified 2017-04-27 -11.7 1.0 Benign/Likely benign 0 -435149 Simple 139600847 G . Uncertain significance 2 2 Fanconi anemia, complementation group E;not specified 2017-07-12 -0.6 0.5 Uncertain significance 0 -435169 Simple 145284589 G . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-05-10 -9.0 0.5 Benign/Likely benign 0 -435170 Simple 138151018 A . Benign/Likely benign 2 2 Fanconi anemia;not specified 2017-07-19 -8.7 1.0 Benign/Likely benign 0 -435172 Simple 376197752 A . Uncertain significance 2 2 Fanconi anemia;not specified 2017-04-20 -0.5700000000000001 1.0 Uncertain significance 0 -435219 Simple 146681532 C . Uncertain significance 2 2 not specified;not provided 2017-09-11 -0.6 0.0 Uncertain significance 0 -435283 Simple 141800945 C . Uncertain significance 2 2 Lymphedema, primary, with myelodysplasia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;not specified 2017-08-01 -0.6 0.5 Uncertain significance 0 -435306 Simple . T . Pathogenic 2 2 Maturity-onset diabetes of the young, type 2;not provided 2016-08-31 10.8 2.0 Pathogenic/Likely pathogenic 1 -435328 Simple 145859702 A . Likely benign 2 2 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;not specified 2016-11-30 -6.0 1.0 Likely benign 0 -435352 Simple 140963173 T . Likely benign 2 2 not specified 2016-09-19 -5.7 1.5 Likely benign 0 -435376 Simple 781053477 A . Likely pathogenic 2 2 Mental retardation, autosomal dominant 8 2016-12-28 5.7 1.5 Likely pathogenic 0 -435426 Simple . - . Pathogenic 2 2 Maturity-onset diabetes of the young, type 3;not provided 2017-05-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -435447 Simple 74154475 G . Likely benign 2 2 not specified;not provided 2017-08-15 -5.7 1.0 Likely benign 0 -435491 Simple 61729777 C . Benign/Likely benign 2 2 Microcephaly, epilepsy, and diabetes syndrome;not specified 2017-07-03 -9.0 0.5 Benign/Likely benign 0 -435511 Simple 74483718 A . Benign 2 2 not specified 2017-02-01 -12.0 1.0 Benign/Likely benign 1 -435533 Simple 201709662 T . Uncertain significance 2 2 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified 2017-06-15 -0.6 0.5 Uncertain significance 0 -435553 Simple 139069413 T . Uncertain significance 2 2 SeSAME syndrome;not specified 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -435594 Simple 200805356 T . Likely benign 2 2 not specified;Mental retardation, X-linked 98 2017-04-13 -5.7 1.0 Likely benign 0 -435620 Simple 201733233 T . Likely benign 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-07-20 -6.0 0.5 Likely benign 0 -435628 Simple 764873243 A . Uncertain significance 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-06-21 -0.6 0.5 Uncertain significance 0 -435678 Simple 182019900 G . Benign/Likely benign 2 3 not specified;not provided;Mental retardation, autosomal recessive 41 2017-08-24 -15.0 0.3333333333333333 Benign/Likely benign 0 -435683 Simple 782341083 A . Benign/Likely benign 2 2 not specified;Spastic paraplegia 2017-07-26 -9.0 0.5 Benign/Likely benign 0 -435708 Simple 367765202 A . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-08-07 -0.6 0.5 Uncertain significance 0 -435709 Simple 199773264 A . Benign/Likely benign 2 3 Laminin alpha 2-related dystrophy;not specified 2017-06-09 -14.7 0.6666666666666666 Benign/Likely benign 0 -435712 Simple 192317605 T . Benign/Likely benign 2 2 Laminin alpha 2-related dystrophy;not specified 2017-07-05 -8.7 1.0 Benign/Likely benign 0 -435714 Simple 371403343 T . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-06-27 -0.6 0.5 Uncertain significance 0 -435715 Simple 200921233 T . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2016-10-25 -0.6 1.0 Uncertain significance 0 -435779 Simple 150969746 A . Benign/Likely benign 2 2 not specified;Epilepsy, progressive myoclonic, 9;Lipodystrophy, partial, acquired, susceptibility to 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -435831 Simple 370479598 T . Pathogenic/Likely pathogenic 2 2 Obesity;not provided;Obesity, autosomal dominant 2016-08-30 8.7 1.5 Pathogenic/Likely pathogenic 0 -435898 Simple . A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-04-12 -0.6 0.5 Uncertain significance 0 -435906 Simple . . . Uncertain significance 2 2 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 2017-04-03 -0.5700000000000001 1.0 Uncertain significance 0 -435911 Simple 145205388 C . Likely benign 2 2 Myopathy, centronuclear, 3;not specified 2017-05-22 -6.0 0.5 Likely benign 0 -435935 Simple 138255766 A . Uncertain significance 2 2 not specified 2017-10-19 -0.6 0.0 Uncertain significance 0 -435961 Simple 201714437 C . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-08-07 -0.6 0.5 Uncertain significance 0 -435964 Simple 200270156 G . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-06-14 -0.6 0.5 Uncertain significance 0 -435982 Simple 150521220 A . Benign/Likely benign 2 2 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;not specified 2017-06-21 -8.7 1.0 Benign/Likely benign 0 -435986 Simple 375285426 A . Likely benign 2 2 Dyskeratosis congenita;not specified 2017-05-03 -6.0 0.5 Likely benign 0 -436130 Simple 142615271 T . Benign/Likely benign 2 2 not specified;Schuurs-hoeijmakers syndrome 2017-02-24 -9.0 1.0 Benign/Likely benign 0 -436134 Simple . T . Uncertain significance 2 2 not specified 2017-10-16 -0.6 0.5 Uncertain significance 0 -436148 Simple 75007073 T . Benign 2 2 not specified;Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 2017-07-25 -12.0 0.0 Benign/Likely benign 1 -436150 Simple 531994703 - . Benign/Likely benign 2 2 not specified;Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 2017-07-19 -9.0 0.5 Benign/Likely benign 0 -436291 Simple 62185645 C . Benign/Likely benign 2 3 not specified;not provided;Mental retardation, autosomal recessive 42 2017-07-25 -12.0 0.0 Benign/Likely benign 0 -436295 Simple 138525017 G . Benign/Likely benign 2 2 not specified;Mental retardation, autosomal recessive 42 2017-07-31 -9.0 0.5 Benign/Likely benign 0 -436321 Simple 142813933 G . Benign/Likely benign 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -436365 Simple 776165339 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified 2017-07-27 -0.5700000000000001 1.0 Uncertain significance 0 -436367 Simple 200535361 C . Uncertain significance 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-04-11 -0.6 0.5 Uncertain significance 0 -436370 Simple 139245562 T . Uncertain significance 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-03-28 -0.6 0.5 Uncertain significance 0 -436376 Simple 369644530 A . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy 2017-04-17 -0.6 0.5 Uncertain significance 0 -436385 Simple 17853284 T . Uncertain significance 2 2 not specified 2017-02-06 -0.6 1.0 Uncertain significance 0 -436388 Simple 79314063 G . Benign/Likely benign 2 2 not specified;Melanoma, cutaneous malignant, susceptibility to, 10 2017-07-26 -9.0 0.0 Benign/Likely benign 0 -436391 Simple . A . Uncertain significance 2 2 not specified;Melanoma, cutaneous malignant, susceptibility to, 10 2017-02-15 -0.6 1.0 Uncertain significance 0 -436413 Simple 149012504 T . Benign/Likely benign 2 2 not specified;Myasthenic syndrome, congenital, 22 2017-06-05 -8.7 1.0 Benign/Likely benign 0 -436417 Simple 139225004 T . Uncertain significance 2 2 Hemophagocytic lymphohistiocytosis, familial, 2;not specified 2017-08-11 -0.6 0.5 Uncertain significance 0 -436446 Simple 532529560 G . Benign 3 2 not specified;Rasopathy 2017-04-18 -12.6 0.0 Benign/Likely benign 1 -436451 Simple 754074166 . . Uncertain significance 2 2 not specified;Mental retardation, autosomal dominant 31 2017-06-30 -0.6 0.5 Uncertain significance 0 -436464 Simple 751620093 T . Uncertain significance 2 2 not specified 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -436505 Simple 145357531 T . Benign/Likely benign 2 2 Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 2016-11-23 -9.0 1.0 Benign/Likely benign 0 -436539 Simple 200780805 G . Uncertain significance 2 2 not specified 2017-05-26 -0.6 0.5 Uncertain significance 0 -436540 Simple 201486809 T . Uncertain significance 2 2 not specified 2017-05-26 -0.6 0.5 Uncertain significance 0 -436547 Simple 368080023 G . Likely benign 2 2 not specified;not provided 2017-08-30 -6.0 0.5 Likely benign 0 -436554 Simple 746098498 T . Likely benign 2 2 Diamond-Blackfan anemia;not specified 2017-07-19 -6.0 0.5 Likely benign 0 -436574 Simple 115464632 C . Benign/Likely benign 2 2 not specified;Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 2017-07-12 -8.7 1.0 Benign/Likely benign 0 -436577 Simple 116053476 G . Benign 2 2 not specified;Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 2017-08-01 -12.0 0.0 Benign/Likely benign 1 -436581 Simple 141522376 G . Benign/Likely benign 2 2 not specified;Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 2017-06-23 -9.0 0.5 Benign/Likely benign 0 -436584 Simple 115423936 A . Benign 2 2 not specified;Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 2017-06-29 -12.0 0.0 Benign/Likely benign 1 -436604 Simple 201044643 G . Uncertain significance 2 2 not specified 2017-08-30 -0.6 0.0 Uncertain significance 0 -436611 Simple . T . Uncertain significance 2 2 Familial platelet disorder with associated myeloid malignancy;not specified 2017-04-21 -0.6 0.5 Uncertain significance 0 -436618 Simple 561166961 A . Uncertain significance 2 2 Familial platelet disorder with associated myeloid malignancy;not specified 2017-07-18 -0.6 0.5 Uncertain significance 0 -436632 Simple 143961484 G . Uncertain significance 2 2 not specified;Spastic paraplegia 2017-06-06 -0.6 0.0 Uncertain significance 0 -436646 Simple 537247534 A . Uncertain significance 2 2 not specified;not provided 2017-03-07 -0.6 0.5 Uncertain significance 0 -436665 Simple 367936207 A . Likely benign 2 2 not specified 2016-08-15 -6.0 1.0 Likely benign 0 -436668 Simple 78592515 T . Uncertain significance 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-02-02 -0.6 1.0 Uncertain significance 0 -436674 Simple 773953311 G . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -436700 Simple 149297443 G . Uncertain significance 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 2017-06-06 -0.6 0.0 Uncertain significance 0 -436701 Simple 148949414 T . Benign/Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 2016-05-31 -8.7 1.5 Benign/Likely benign 0 -436702 Simple 201232766 T . Likely benign 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 2017-02-08 -6.0 1.0 Likely benign 0 -436730 Simple 515726215 - . Pathogenic 2 2 Andermann syndrome 2015-09-18 10.8 2.0 Pathogenic/Likely pathogenic 1 -436793 Simple 144647122 T . Uncertain significance 2 2 Fanconi anemia;not specified 2017-04-05 -0.6 0.0 Uncertain significance 0 -436800 Simple 745316697 . . Likely benign 2 2 not specified 2016-05-09 -5.7 1.5 Likely benign 0 -436814 Simple 748952582 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 1;not specified 2017-02-15 -6.0 1.0 Likely benign 0 -436839 Simple 751221446 . . Benign/Likely benign 2 2 not specified;not provided 2017-02-23 -9.0 1.0 Benign/Likely benign 0 -436841 Simple 35206443 T . Benign/Likely benign 2 3 not specified;not provided;Epilepsy, hearing loss, and mental retardation syndrome 2017-08-10 -15.0 0.0 Benign/Likely benign 0 -436859 Simple 9332960 A . Pathogenic 2 3 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;not provided 2017-09-22 18.0 0.0 Pathogenic 0 -436914 Simple 141474837 T . Benign/Likely benign 2 3 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-05-30 -15.0 0.6666666666666666 Benign/Likely benign 0 -436926 Simple . C . Uncertain significance 2 2 Mental retardation, autosomal dominant 5;not specified 2017-02-06 -0.5700000000000001 1.5 Uncertain significance 0 -436979 Simple 143992655 A . Benign/Likely benign 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-07-05 -9.0 0.0 Benign/Likely benign 0 -436982 Simple 773793700 - . Uncertain significance 2 2 Idiopathic fibrosing alveolitis, chronic form;Dyskeratosis congenita, autosomal dominant, 2;not specified 2017-06-13 -0.6 0.0 Uncertain significance 0 -437102 Simple 756575734 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-05-15 -0.6 0.5 Uncertain significance 0 -437103 Simple 532818379 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-07 -0.6 0.5 Uncertain significance 0 -437169 Simple 368765755 C . Uncertain significance 2 2 not specified 2017-12-13 -0.6 0.5 Uncertain significance 0 -437264 Simple 143743709 G . Uncertain significance 2 2 not specified 2017-01-19 -0.6 1.0 Uncertain significance 0 -437325 Simple . C . Uncertain significance 2 2 Mowat-Wilson syndrome;not specified 2017-05-16 -0.6 0.5 Uncertain significance 0 -437384 Simple 371328036 A . Uncertain significance 2 2 not specified 2017-09-26 -0.6 0.5 Uncertain significance 0 -437395 Simple 528020839 . . Likely benign 2 2 not specified 2015-09-04 -5.4 2.0 Likely benign 0 -437421 Simple . A . Uncertain significance 2 2 not specified;Autistic behavior 2017-08-01 -0.6 0.0 Uncertain significance 0 -437479 Simple . C . Likely pathogenic 2 2 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-11-16 6.0 0.0 Likely pathogenic 0 -437491 Simple . A . Pathogenic 2 2 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-11-16 12.0 0.0 Pathogenic/Likely pathogenic 1 -437499 Simple . - . Pathogenic 2 2 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-10-25 12.0 0.0 Pathogenic/Likely pathogenic 1 -437909 Simple . T . Pathogenic 2 2 UBTF E210K Neuroregression Syndrome;NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 2017-12-11 12.0 0.0 Pathogenic/Likely pathogenic 1 -438282 Simple . T . Pathogenic/Likely pathogenic 2 2 Coffin-Siris syndrome 1;not provided 2017-06-30 8.4 1.0 Pathogenic/Likely pathogenic 0 -438865 Simple 876658802 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-28 12.0 1.0 Pathogenic/Likely pathogenic 1 -438875 Simple 138410865 G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-04 -0.6 1.0 Uncertain significance 0 -438877 Simple 752590375 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-28 -0.8999999999999999 0.0 Uncertain significance 0 -438880 Simple . A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-06-19 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -438891 Simple 374853436 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome 2017-05-15 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -438892 Simple . G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -438894 Simple 1024564785 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-12-01 -0.6 1.0 Uncertain significance 0 -438896 Simple 767584985 A . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -438898 Simple 587780037 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-12 9.0 1.0 Pathogenic/Likely pathogenic 0 -438901 Simple 543606863 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-04 -0.6 1.0 Uncertain significance 0 -438903 Simple 138478597 T . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -438910 Simple . . . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-05-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -438913 Simple . T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-07-28 -0.6 0.5 Uncertain significance 0 -438915 Simple . AA . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-20 -0.6 1.0 Uncertain significance 0 -438919 Simple . C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -438943 Simple 876659941 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-20 -0.6 1.0 Uncertain significance 0 -438946 Simple . T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-23 -0.6 1.0 Uncertain significance 0 -438950 Simple . G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-09 -0.6 0.5 Uncertain significance 0 -438957 Simple . C . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -438967 Simple 80358546 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-05-05 -0.6 0.0 Uncertain significance 0 -438968 Simple . G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-31 -0.6 0.0 Uncertain significance 0 -438973 Simple 878853575 A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-10 -0.8999999999999999 0.0 Uncertain significance 0 -438976 Simple . - . Pathogenic/Likely pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2017-01-13 9.0 1.0 Pathogenic/Likely pathogenic 0 -438981 Simple 397507725 . . Pathogenic/Likely pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2017-06-07 9.0 0.0 Pathogenic/Likely pathogenic 0 -438987 Simple 766080044 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-07-03 -0.6 0.5 Uncertain significance 0 -438990 Simple . T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-06-14 -0.6 0.0 Uncertain significance 0 -438994 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;not specified 2017-07-17 -0.6 0.5 Uncertain significance 0 -438998 Simple . . . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-03-24 8.4 1.0 Pathogenic/Likely pathogenic 0 -439009 Simple . G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-10 -0.6 0.5 Uncertain significance 0 -439023 Simple . A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -6.0 0.5 Likely benign 0 -439024 Simple . T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.0 Uncertain significance 0 -439032 Simple . - . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2017-02-22 -0.6 1.0 Uncertain significance 0 -439044 Simple . G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-09 -0.6 1.0 Uncertain significance 0 -439046 Simple 760719270 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.0 Uncertain significance 0 -439048 Simple . A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-05-19 -0.6 0.5 Uncertain significance 0 -439073 Simple 137854873 A . Likely benign 2 2 not specified 2017-06-25 -6.0 0.0 Likely benign 0 -439090 Simple 368388249 C . Conflicting interpretations of pathogenicity 1 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-23 -3.6 0.3333333333333333 Uncertain significance 0 -439092 Simple 200917541 T . Pathogenic 2 3 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-06-28 18.0 0.0 Pathogenic 0 -439094 Simple 141514155 A . Benign/Likely benign 2 2 not specified 2017-04-05 -9.0 0.5 Benign/Likely benign 0 -439096 Simple 374054030 G . Benign 2 2 not specified 2017-01-25 -12.0 1.0 Benign/Likely benign 1 -439102 Simple 370305736 T . Benign/Likely benign 2 2 not specified 2017-04-07 -9.0 0.5 Benign/Likely benign 0 -439106 Simple 577938658 T . Benign 2 2 not specified 2016-12-13 -12.0 1.0 Benign/Likely benign 1 -439113 Simple 772829778 G . Benign 2 2 not specified 2016-12-05 -12.0 1.0 Benign/Likely benign 1 -439127 Simple . T . Likely benign 2 2 not specified 2017-03-08 -6.0 0.5 Likely benign 0 -439128 Simple 1025977498 T . Benign 2 2 not specified 2016-12-23 -12.0 1.0 Benign/Likely benign 1 -439177 Simple . . . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-01-15 9.0 1.0 Pathogenic/Likely pathogenic 0 -439180 Simple 768409958 C . Likely benign 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -9.0 0.3333333333333333 Benign/Likely benign 1 -439186 Simple 557339938 A . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -439196 Simple . G . Likely benign 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-20 -6.0 0.0 Likely benign 0 -439201 Simple 876659508 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -439209 Simple 777617756 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-11 -0.6 0.5 Uncertain significance 0 -439216 Simple . C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-08 -0.6 0.5 Uncertain significance 0 -439219 Simple . A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-22 -0.5700000000000001 1.0 Uncertain significance 0 -439220 Simple 759460243 A . Likely benign 2 4 MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -11.7 1.0 Benign/Likely benign 1 -439235 Simple . A . Uncertain significance 2 2 Familial cancer of breast;not specified 2017-07-26 -0.6 0.0 Uncertain significance 0 -439236 Simple 587780221 T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-04-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -439237 Simple 769240800 C . Pathogenic/Likely pathogenic 2 4 Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome 2017-10-26 18.0 0.5 Pathogenic 1 -439239 Simple . T . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -439242 Simple . G . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-07-13 -0.6 0.5 Uncertain significance 0 -439243 Simple 730881919 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-02-15 9.0 1.0 Pathogenic/Likely pathogenic 0 -439245 Simple . A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary nonpolyposis colon cancer 2017-05-22 9.0 0.0 Pathogenic/Likely pathogenic 0 -439246 Simple . A . Likely benign 2 2 Colorectal cancer 10;not specified 2017-08-03 -6.0 0.0 Likely benign 0 -439249 Simple . - . Uncertain significance 2 3 Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -439253 Simple 748444470 G . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-06-16 -0.6 0.5 Uncertain significance 0 -439259 Simple 373192520 A . Uncertain significance 2 2 Colorectal cancer 10;not specified 2017-03-10 -0.6 0.5 Uncertain significance 0 -439266 Simple 369732588 . . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-21 -6.0 1.0 Likely benign 0 -439268 Simple 5744888 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-02 -8.7 1.0 Benign/Likely benign 1 -439269 Simple . A . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-17 -5.7 1.5 Likely benign 0 -439270 Simple 545161424 T . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-17 -5.7 1.0 Likely benign 0 -439273 Simple 778896278 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-16 -9.0 1.0 Benign/Likely benign 1 -439274 Simple . - . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-03-25 -0.6 0.5 Uncertain significance 0 -439276 Simple 749126952 A . Likely benign 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-22 -8.7 0.6666666666666666 Benign/Likely benign 1 -439277 Simple 199777048 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-07-07 -0.6 0.5 Uncertain significance 0 -439279 Simple 368538240 T . Uncertain significance 2 3 not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.0 Uncertain significance 0 -439281 Simple 1002061657 C . Likely benign 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-01-20 -6.0 1.0 Likely benign 0 -439282 Simple 771619667 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-09 -0.6 0.5 Uncertain significance 0 -439283 Simple 1060500783 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-11-11 -0.6 1.0 Uncertain significance 0 -439293 Simple 758223998 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.5 Uncertain significance 0 -439297 Simple 760986608 T . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 3;not specified 2017-06-26 -0.6 0.5 Uncertain significance 0 -439367 Simple 113669376 A . Uncertain significance 2 2 Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified 2017-03-28 -0.6 0.5 Uncertain significance 0 -439395 Simple 200180652 A . Uncertain significance 2 2 Glycogen storage disease type III;not specified 2016-12-21 -0.6 1.0 Uncertain significance 0 -439419 Simple . C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome 2017-03-17 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -439432 Simple 777065935 A . Uncertain significance 2 2 not specified;Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant 2017-05-08 -0.6 0.5 Uncertain significance 0 -439440 Simple 80357381 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-06 -0.5700000000000001 1.5 Uncertain significance 0 -439449 Simple . C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-13 -5.7 1.5 Likely benign 0 -439475 Simple 72340994 - . Benign 2 2 not specified 2016-10-10 -11.4 1.5 Benign/Likely benign 1 -439504 Simple 67525025 T . Pathogenic 2 2 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified 2017-04-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -439517 Simple 550665335 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 4;not specified 2017-04-14 -0.6 0.5 Uncertain significance 0 -439531 Simple 199755089 T . Benign 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-05-16 -12.0 0.5 Benign/Likely benign 1 -439538 Simple 144269434 T . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-07-31 -0.5700000000000001 1.0 Uncertain significance 0 -439554 Simple 144572703 T . Likely benign 2 2 not specified;Common variable immunodeficiency 7 2017-06-30 -6.0 0.0 Likely benign 0 -439555 Simple 1143665 C . Benign 2 2 not specified;Common variable immunodeficiency 7 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -439556 Simple 61759494 G . Benign 2 2 not specified;Common variable immunodeficiency 7 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -439572 Simple 780097120 A . Uncertain significance 2 2 Hereditary pancreatitis;not specified 2017-04-09 -0.6 0.0 Uncertain significance 0 -439582 Simple 117620008 G . Uncertain significance 2 2 not specified 2017-07-31 -0.6 0.5 Uncertain significance 0 -439588 Simple 398123658 - . Benign 2 2 not specified 2015-11-05 -9.600000000000001 3.0 Benign/Likely benign 1 -439595 Simple 115595829 A . Benign/Likely benign 2 2 not specified;not provided 2017-07-17 -9.0 0.0 Benign/Likely benign 0 -439613 Simple . C . Pathogenic/Likely pathogenic 2 2 Duchenne muscular dystrophy;not specified 2017-05-18 9.0 0.5 Pathogenic/Likely pathogenic 0 -439620 Simple 148615702 G . Likely benign 2 2 not specified;Spinal muscular atrophy, distal, autosomal recessive, 5 2017-07-20 -6.0 0.5 Likely benign 0 -439644 Simple . A . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not specified 2017-05-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -439646 Simple 779103881 A . Benign/Likely benign 2 2 Osler hemorrhagic telangiectasia syndrome;not specified 2017-04-16 -9.0 0.5 Benign/Likely benign 0 -439727 Simple 139235893 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-03-09 -0.6 0.5 Uncertain significance 0 -439746 Simple 376067362 G . Uncertain significance 2 2 Glycogen storage disease, type II;not specified 2017-06-30 -0.6 0.5 Uncertain significance 0 -439804 Simple 147860819 T . Uncertain significance 2 2 not specified 2016-09-22 -0.6 1.0 Uncertain significance 0 -439808 Simple 75843082 C . Benign/Likely benign 2 2 not specified 2017-05-19 -9.0 0.0 Benign/Likely benign 0 -439809 Simple 565853695 C . Uncertain significance 2 2 not specified 2017-09-15 -0.6 0.5 Uncertain significance 0 -439819 Simple 149577588 A . Uncertain significance 2 2 Spinal muscular atrophy, distal, autosomal recessive, 1;not specified;Charcot-Marie-Tooth disease, axonal, type 2S 2017-06-27 -0.6 0.5 Uncertain significance 0 -439820 Simple 111903752 T . Benign 2 2 Agammaglobulinemia 2, autosomal recessive;not specified 2017-07-31 -12.0 0.5 Benign/Likely benign 1 -439823 Simple 145176864 A . Benign 2 2 Agammaglobulinemia 2, autosomal recessive;not specified 2017-06-29 -12.0 0.5 Benign/Likely benign 1 -439828 Simple 369417066 T . Uncertain significance 2 2 not specified 2017-07-14 -0.6 0.5 Uncertain significance 0 -439854 Simple . T . Pathogenic 2 2 Cerebral cavernous malformation;not specified 2017-06-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -439864 Simple 373758040 T . Uncertain significance 2 2 Majeed syndrome;not specified 2017-08-17 -0.6 0.5 Uncertain significance 0 -439869 Simple 62346982 G . Benign 2 2 not specified;Common variable immunodeficiency 8, with autoimmunity 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -439890 Simple 770413697 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;not specified 2017-06-02 -6.0 0.5 Likely benign 0 -439898 Simple 373211062 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-07-01 -0.6 0.0 Uncertain significance 0 -439944 Simple 368413008 T . Uncertain significance 2 2 Aortic aneurysm, familial thoracic 7;not specified 2017-05-09 -0.6 0.5 Uncertain significance 0 -439973 Simple 772295894 G . Pathogenic 2 3 Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome 2017-07-21 18.0 0.3333333333333333 Pathogenic 0 -439997 Simple . A . Pathogenic 2 3 Neurofibromatosis, type 1;not specified;not provided 2017-08-09 18.0 0.3333333333333333 Pathogenic 0 -440002 Simple 368586596 A . Benign/Likely benign 2 2 Neurofibromatosis, type 1;not specified 2017-07-31 -9.0 0.0 Benign/Likely benign 0 -440066 Simple 61755420 G . Benign 2 2 not specified;Immunodeficiency 14 2017-07-26 -12.0 0.0 Benign/Likely benign 1 -440067 Simple 28730669 C . Benign 2 2 not specified;Immunodeficiency 14 2017-07-10 -12.0 0.5 Benign/Likely benign 1 -440068 Simple 28730679 C . Benign 2 2 not specified;Immunodeficiency 14 2017-06-15 -12.0 0.0 Benign/Likely benign 1 -440069 Simple 368138177 C . Likely benign 2 2 SHORT syndrome;not specified;Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 2017-07-10 -6.0 0.5 Likely benign 0 -440089 Simple 137925121 A . Benign 2 2 not specified 2016-12-09 -12.0 1.0 Benign/Likely benign 1 -440092 Simple 771382752 A . Benign/Likely benign 2 2 not specified 2017-03-07 -9.0 0.5 Benign/Likely benign 0 -440127 Simple 143265128 T . Benign 2 2 not specified 2017-01-29 -12.0 1.0 Benign/Likely benign 1 -440137 Simple 867092741 T . Pathogenic 2 2 not specified;not provided 2017-03-16 12.0 0.5 Pathogenic/Likely pathogenic 1 -440141 Simple 139752541 C . Benign 2 2 not specified 2017-04-06 -10.2 2.0 Benign/Likely benign 1 -440153 Simple 61749044 T . Benign 2 2 not specified;Familial cold autoinflammatory syndrome 3 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -440154 Simple 72824905 G . Benign/Likely benign 2 3 not specified;Familial cold autoinflammatory syndrome 3;not provided 2017-07-27 -15.0 0.3333333333333333 Benign/Likely benign 0 -440155 Simple 45443101 T . Benign 2 2 not specified;Familial cold autoinflammatory syndrome 3 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -440158 Simple 187956469 C . Benign 2 2 not specified;Familial cold autoinflammatory syndrome 3 2017-07-19 -12.0 0.5 Benign/Likely benign 1 -440159 Simple 75472618 G . Benign 2 2 not specified;Familial cold autoinflammatory syndrome 3 2017-08-07 -12.0 0.5 Benign/Likely benign 1 -440166 Simple 201888323 C . Likely benign 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2017-07-06 -6.0 0.5 Likely benign 0 -440170 Simple 74354225 G . Benign 2 2 Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified 2017-07-06 -12.0 0.0 Benign/Likely benign 1 -440182 Simple 41281013 G . Benign/Likely benign 2 2 not specified;not provided 2017-09-18 -9.0 0.5 Benign/Likely benign 0 -440193 Simple 56042895 G . Benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-07-11 -12.0 0.5 Benign/Likely benign 1 -440194 Simple 8178232 T . Benign/Likely benign 2 2 not specified;Immunodeficiency 26 with or without neurologic abnormalities 2017-08-11 -9.0 0.0 Benign/Likely benign 0 -440209 Simple 200188483 T . Uncertain significance 2 2 not specified 2017-09-28 -0.6 0.5 Uncertain significance 0 -440224 Simple 150672767 A . Uncertain significance 2 2 not specified 2017-08-24 -0.6 0.5 Uncertain significance 0 -440259 Simple . G . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;not specified 2017-04-27 -0.6 0.0 Uncertain significance 0 -440265 Simple 531485265 - . Benign 2 2 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified 2017-05-24 -12.0 0.5 Benign/Likely benign 1 -440266 Simple 79233884 C . Benign 2 2 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified 2017-05-24 -12.0 0.5 Benign/Likely benign 1 -440292 Simple 16988404 A . Benign 2 2 Amyotrophic lateral sclerosis type 1;not specified 2017-06-27 -12.0 0.5 Benign/Likely benign 1 -440314 Simple 150063353 A . Uncertain significance 2 2 not specified 2017-03-28 -0.6 0.5 Uncertain significance 0 -440343 Simple 547352394 A . Likely benign 2 2 not specified;not provided 2017-08-29 -6.0 0.5 Likely benign 0 -440344 Simple 373828157 A . Benign/Likely benign 2 2 Common variable immunodeficiency 4;not specified 2017-08-01 -9.0 0.5 Benign/Likely benign 0 -440349 Simple 59758982 . . Benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-09-16 -10.2 2.5 Benign/Likely benign 1 -440369 Simple . T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-13 -0.6 0.5 Uncertain significance 0 -440370 Simple 764276622 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-08 -0.6 0.5 Uncertain significance 0 -440404 Simple . T . Uncertain significance 2 3 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -440430 Simple . - . Pathogenic 2 2 Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome 2016-08-01 11.4 1.5 Pathogenic/Likely pathogenic 1 -440453 Simple 757781708 A . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-09-01 -0.5700000000000001 1.0 Uncertain significance 0 -440468 Simple 797044631 . . Pathogenic 2 3 Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome 2016-07-18 16.8 1.6666666666666667 Pathogenic 0 -440473 Simple . G . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2016-08-08 -0.6 1.0 Uncertain significance 0 -441297 Simple . T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -441334 Simple 746472081 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.5 Uncertain significance 0 -441389 Simple 80358008 G . Likely pathogenic 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 9.0 0.3333333333333333 Pathogenic/Likely pathogenic 1 -441392 Simple 876659193 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.5 Uncertain significance 0 -441410 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-27 -0.6 1.0 Uncertain significance 0 -441414 Simple 764208320 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-29 -0.6 0.5 Uncertain significance 0 -441424 Simple . A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.0 Uncertain significance 0 -441428 Simple 273898675 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-21 -0.54 2.0 Uncertain significance 0 -441429 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-02 -0.6 0.5 Uncertain significance 0 -441430 Simple 786203580 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-07 -0.5700000000000001 1.0 Uncertain significance 0 -441458 Simple . - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-14 12.0 0.0 Pathogenic/Likely pathogenic 1 -441469 Simple 895758995 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -441470 Simple . A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-02 -0.6 0.5 Uncertain significance 0 -441474 Simple 753047043 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.5 Uncertain significance 0 -441500 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-03 -0.6 1.0 Uncertain significance 0 -441524 Simple . A . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-11-08 -0.87 0.6666666666666666 Uncertain significance 0 -444095 Simple 765816079 . . Pathogenic/Likely pathogenic 2 2 Autosomal recessive hypophosphatemic bone disease;not provided 2017-09-22 7.2 2.0 Likely pathogenic 1 -444184 Simple . T . Pathogenic/Likely pathogenic 2 2 Familial hemiplegic migraine;not provided 2017-07-19 9.0 0.5 Pathogenic/Likely pathogenic 0 -444244 Simple 142972252 T . Uncertain significance 2 2 not provided 2017-06-30 -0.6 0.0 Uncertain significance 0 -444270 Simple 1011518082 T . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-06-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -444287 Simple 143710836 A . Uncertain significance 2 2 Parkinson disease 8, autosomal dominant;not provided 2017-07-19 -0.6 0.0 Uncertain significance 0 -444293 Simple . G . Uncertain significance 2 2 not provided;Early infantile epileptic encephalopathy 2017-05-31 -0.6 0.0 Uncertain significance 0 -444312 Simple 368494148 A . Uncertain significance 2 2 not specified;not provided 2017-06-30 -0.6 0.0 Uncertain significance 0 -444377 Simple 141854925 A . Uncertain significance 2 2 not provided;Spastic paraplegia 2017-04-30 -0.6 0.5 Uncertain significance 0 -444378 Simple 761879076 A . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not provided 2017-04-30 -0.6 0.0 Uncertain significance 0 -444384 Simple 528085780 A . Uncertain significance 2 2 not specified;not provided 2017-08-29 -0.6 0.0 Uncertain significance 0 -444417 Simple 139466192 T . Uncertain significance 2 2 Pityriasis rubra pilaris;Psoriasis susceptibility 2;not provided 2017-07-24 -0.6 0.5 Uncertain significance 0 -444466 Simple 200291321 A . Uncertain significance 2 2 not specified;not provided 2017-10-23 -0.6 0.0 Uncertain significance 0 -444472 Simple 606231432 G . Likely pathogenic 2 2 not provided 2017-10-04 6.0 0.0 Likely pathogenic 0 -444492 Simple . - . Pathogenic/Likely pathogenic 2 2 not provided 2017-05-31 9.0 0.0 Pathogenic/Likely pathogenic 0 -444519 Simple 138217855 C . Uncertain significance 2 2 Nemaline myopathy 2;not provided 2017-07-17 -0.6 0.0 Uncertain significance 0 -444578 Simple 1057517988 C . Pathogenic/Likely pathogenic 2 2 not provided 2017-09-19 9.0 0.0 Pathogenic/Likely pathogenic 0 -444583 Simple 200020310 T . Uncertain significance 2 2 Epilepsy, familial focal, with variable foci 1;not provided 2017-04-30 -0.6 0.5 Uncertain significance 0 -444602 Simple 11550620 C . Uncertain significance 2 2 Pierson syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;not provided 2017-06-30 -0.6 0.0 Uncertain significance 0 -444644 Simple 146686472 G . Uncertain significance 2 2 not provided;Charcot-Marie-Tooth disease, axonal, type 2R 2017-07-31 -0.6 0.0 Uncertain significance 0 -444699 Simple 758048596 A . Uncertain significance 2 2 not specified;not provided 2017-09-13 -0.6 0.0 Uncertain significance 0 -444741 Simple 749163947 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2E;not provided 2017-07-19 -0.6 0.5 Uncertain significance 0 -445300 Simple 116926961 G . Benign/Likely benign 2 2 not provided;Epileptic encephalopathy 2017-07-31 -9.0 0.0 Benign/Likely benign 0 -445327 Simple 34058554 T . Benign/Likely benign 2 2 not provided;Early infantile epileptic encephalopathy 34 2017-08-31 -9.0 0.0 Benign/Likely benign 0 -445328 Simple 34120878 A . Benign/Likely benign 2 2 not provided;Mental retardation, autosomal recessive 53 2017-08-03 -9.0 0.0 Benign/Likely benign 0 -445427 Simple 746346104 T . Uncertain significance 2 2 not specified;not provided 2017-08-01 -0.5700000000000001 1.0 Uncertain significance 0 -445457 Simple 12946178 T . Benign/Likely benign 2 2 not provided;Epileptic encephalopathy 2017-08-11 -9.0 0.0 Benign/Likely benign 0 -445480 Simple 143207434 A . Benign/Likely benign 2 2 Leber congenital amaurosis 12;not provided 2017-06-19 -9.0 0.0 Benign/Likely benign 0 -445489 Simple 72681869 C . Benign 2 2 not provided;Noonan syndrome 9 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -445493 Simple 117304542 G . Benign/Likely benign 2 2 Multiple gastrointestinal atresias;not provided 2017-07-03 -9.0 0.0 Benign/Likely benign 0 -445501 Simple 148491210 T . Uncertain significance 2 2 not provided;Epileptic encephalopathy, early infantile, 23 2017-04-28 -0.6 0.5 Uncertain significance 0 -445507 Simple 77015302 T . Benign/Likely benign 2 2 Rigidity and multifocal seizure syndrome, lethal neonatal;not provided 2017-08-31 -9.0 0.0 Benign/Likely benign 0 -445522 Simple 114618894 T . Benign/Likely benign 2 2 Familial cold autoinflammatory syndrome 3;not provided 2017-08-11 -9.0 0.0 Benign/Likely benign 0 -445530 Simple 11466048 A . Benign/Likely benign 2 2 Familial Mediterranean fever;not provided 2017-08-04 -9.0 0.0 Benign/Likely benign 0 -445547 Simple 2230531 T . Benign/Likely benign 2 2 Leukocyte adhesion deficiency type 1;not provided 2017-07-05 -9.0 0.0 Benign/Likely benign 0 -445557 Simple 137943515 A . Uncertain significance 2 2 Glycogen storage disease type III;not provided 2017-09-25 -0.6 0.0 Uncertain significance 0 -445594 Simple 17878711 G . Benign/Likely benign 2 2 not provided;Immunodeficiency 28 2017-07-31 -9.0 0.0 Benign/Likely benign 0 -445595 Simple 200319381 C . Uncertain significance 2 2 not specified;not provided 2017-10-10 -0.6 0.0 Uncertain significance 0 -445596 Simple 58036849 T . Benign/Likely benign 2 2 not provided;Epilepsy, familial focal, with variable foci 3 2017-08-03 -9.0 0.0 Benign/Likely benign 0 -445608 Simple 138855624 T . Uncertain significance 2 2 not specified;not provided 2017-09-01 -0.6 0.0 Uncertain significance 0 -445614 Simple 7277693 T . Benign/Likely benign 2 2 not specified;not provided 2017-06-27 -9.0 0.0 Benign/Likely benign 0 -445707 Simple 149668713 A . Benign/Likely benign 2 2 not specified;not provided 2017-04-26 -9.0 0.0 Benign/Likely benign 0 -445749 Simple 113613637 T . Benign/Likely benign 2 2 Rigidity and multifocal seizure syndrome, lethal neonatal;not provided 2017-08-31 -9.0 0.0 Benign/Likely benign 0 -445755 Simple 149305291 T . Benign 2 2 not provided;Mental retardation, autosomal recessive 53 2017-08-07 -12.0 0.0 Benign/Likely benign 1 -445816 Simple 146805986 T . Benign/Likely benign 2 2 not specified;not provided 2017-02-27 -9.0 1.0 Benign/Likely benign 0 -445825 Simple 182757967 T . Benign/Likely benign 2 2 Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia;not provided 2017-08-17 -9.0 0.0 Benign/Likely benign 0 -445827 Simple 34139502 T . Benign/Likely benign 2 2 not provided;Noonan syndrome 9 2017-06-20 -9.0 0.0 Benign/Likely benign 0 -445847 Simple 2912838 A . Benign/Likely benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not provided 2017-08-31 -9.0 0.0 Benign/Likely benign 0 -445859 Simple 113676865 A . Benign/Likely benign 2 2 Chromosome 9q deletion syndrome;not provided 2017-08-10 -9.0 0.0 Benign/Likely benign 0 -445902 Simple 34982958 G . Benign/Likely benign 2 2 Inosine triphosphatase deficiency;not provided 2017-07-26 -9.0 0.0 Benign/Likely benign 0 -445927 Simple 61755328 A . Benign/Likely benign 2 2 not provided;Parkinson disease 20, early-onset;Epileptic encephalopathy, early infantile, 53 2017-08-10 -9.0 0.0 Benign/Likely benign 0 -445970 Simple 180834558 T . Benign/Likely benign 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not provided;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-04-03 -9.0 0.0 Benign/Likely benign 0 -445982 Simple . A . Likely pathogenic 2 2 Spastic paraplegia 39;not provided 2017-04-28 6.0 0.0 Likely pathogenic 0 -445990 Simple 146753539 G . Likely benign 2 2 not specified;not provided 2017-06-15 -6.0 0.5 Likely benign 0 -446012 Simple 201485597 A . Benign/Likely benign 2 2 Encephalopathy, acute, infection-induced, 3, suceptibility to;not provided 2017-07-31 -9.0 0.0 Benign/Likely benign 0 -446295 Simple . - . Pathogenic 2 2 Hereditary hearing loss and deafness;not provided 2017-08-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -446818 Simple 775697727 A . Likely benign 2 2 not specified;Epileptic encephalopathy, early infantile, 36 2017-06-26 -6.0 0.0 Likely benign 0 -446850 Simple . . . Likely pathogenic 2 2 not provided 2017-09-14 6.0 0.0 Likely pathogenic 0 -446861 Simple 770810694 T . Pathogenic 2 2 not provided 2017-07-25 12.0 0.5 Pathogenic/Likely pathogenic 1 -446878 Simple . - . Pathogenic 2 2 Brody myopathy;not provided 2017-06-07 12.0 0.5 Pathogenic/Likely pathogenic 1 -446888 Simple . - . Uncertain significance 2 2 ATR-X syndrome;not specified 2017-06-23 -0.6 0.0 Uncertain significance 0 -446894 Simple 7807895 A . Benign 2 2 not specified;Rigidity and multifocal seizure syndrome, lethal neonatal 2017-08-10 -12.0 0.0 Benign/Likely benign 1 -446895 Simple 61753094 A . Uncertain significance 2 2 not specified;Rigidity and multifocal seizure syndrome, lethal neonatal 2017-06-14 -0.6 0.0 Uncertain significance 0 -446896 Simple 71531463 CT . Benign 2 2 not specified;Rigidity and multifocal seizure syndrome, lethal neonatal 2017-08-14 -12.0 0.0 Benign/Likely benign 1 -446897 Simple 60152725 A . Benign 2 2 not specified;Rigidity and multifocal seizure syndrome, lethal neonatal 2017-08-12 -12.0 0.0 Benign/Likely benign 1 -446903 Simple . . . Pathogenic 2 2 Episodic ataxia type 2;not provided;Epileptic encephalopathy, early infantile, 42 2017-05-23 12.0 0.5 Pathogenic/Likely pathogenic 1 -446925 Simple 572036869 T . Benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-06-30 -12.0 0.0 Benign/Likely benign 1 -446932 Simple 16004 T . Likely benign 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-06-20 -6.0 0.0 Likely benign 0 -446940 Simple . T . Uncertain significance 2 2 Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42 2017-05-23 -0.6 0.5 Uncertain significance 0 -446950 Simple 780122141 G . Benign 2 2 Idiopathic generalized epilepsy;not specified;Hyperaldosteronism, familial, type IV 2017-07-11 -12.0 0.0 Benign/Likely benign 1 -446954 Simple 35509671 T . Benign 2 2 Idiopathic generalized epilepsy;not specified;Hyperaldosteronism, familial, type IV 2017-08-07 -12.0 0.0 Benign/Likely benign 1 -446956 Simple 3751886 G . Benign 2 2 Idiopathic generalized epilepsy;not specified;Hyperaldosteronism, familial, type IV 2017-08-07 -12.0 0.0 Benign/Likely benign 1 -446992 Simple 375468610 A . Uncertain significance 2 2 Hypocalciuric hypercalcemia, familial, type 1;not specified;Hypocalcemia, autosomal dominant 1 2017-03-07 -0.6 0.5 Uncertain significance 0 -447007 Simple 148276717 T . Benign/Likely benign 2 2 not specified;Myopathy, centronuclear, 4 2017-08-09 -9.0 0.5 Benign/Likely benign 0 -447010 Simple 79863898 T . Benign/Likely benign 2 2 not specified;Myopathy, centronuclear, 4 2017-04-12 -9.0 0.5 Benign/Likely benign 0 -447029 Simple 4838544 G . Benign 2 2 Familial infantile myasthenia;not specified 2017-08-09 -12.0 0.0 Benign/Likely benign 1 -447043 Simple 767000881 A . Pathogenic/Likely pathogenic 2 2 Congenital myotonia, autosomal recessive form;not provided 2017-07-31 7.8 1.5 Likely pathogenic 1 -447060 Simple 144612641 G . Uncertain significance 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;not specified 2017-05-22 -0.6 0.5 Uncertain significance 0 -447067 Simple 10282312 G . Benign 2 2 Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;not specified 2017-08-01 -12.0 0.0 Benign/Likely benign 1 -447131 Simple 200284308 A . Uncertain significance 2 2 not specified 2017-08-01 -0.6 0.5 Uncertain significance 0 -447157 Simple 148063325 T . Benign 2 2 Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified 2017-06-10 -12.0 0.5 Benign/Likely benign 1 -447200 Simple . A . Pathogenic 2 2 not provided 2017-08-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -447237 Simple 758320436 C . Uncertain significance 2 2 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified 2017-07-05 -0.6 0.5 Uncertain significance 0 -447239 Simple 72466489 T . Likely benign 2 2 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified 2017-07-28 -6.0 0.5 Likely benign 0 -447240 Simple 757238618 A . Uncertain significance 2 2 Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified 2017-05-27 -0.6 0.0 Uncertain significance 0 -447271 Simple . G . Uncertain significance 2 2 not specified 2017-09-22 -0.6 0.0 Uncertain significance 0 -447277 Simple 61743961 C . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 23 2017-08-03 -12.0 0.0 Benign/Likely benign 1 -447338 Simple 140111406 G . Benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-27 -12.0 0.5 Benign/Likely benign 1 -447339 Simple . C . Uncertain significance 2 2 not specified 2017-09-11 -0.6 0.0 Uncertain significance 0 -447343 Simple 375499070 A . Likely benign 2 2 Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified 2017-07-27 -6.0 0.5 Likely benign 0 -447394 Simple . G . Pathogenic 2 2 not provided 2017-11-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -447408 Simple . G . Uncertain significance 2 2 not specified 2017-07-31 -0.6 0.0 Uncertain significance 0 -447428 Simple . C . Pathogenic 2 2 Charcot-Marie-Tooth Neuropathy X;not provided 2017-02-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -447480 Simple 373814254 A . Likely benign 2 2 Brugada syndrome 8;not specified 2017-06-26 -6.0 0.0 Likely benign 0 -447574 Simple 7122089 G . Uncertain significance 2 2 not specified 2017-07-10 -0.6 0.0 Uncertain significance 0 -447607 Simple 199642265 C . Benign 2 2 Koolen-de Vries syndrome;not specified 2017-08-01 -12.0 0.0 Benign/Likely benign 1 -447610 Simple 142184899 A . Benign/Likely benign 2 2 Episodic ataxia type 1;not specified 2017-06-27 -9.0 0.0 Benign/Likely benign 0 -447616 Simple 115456625 C . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 32 2017-08-01 -12.0 0.0 Benign/Likely benign 1 -447617 Simple 76929858 A . Benign 2 2 not specified;Epilepsy, progressive myoclonic 7 2017-07-28 -12.0 0.0 Benign/Likely benign 1 -447637 Simple . T . Uncertain significance 2 2 not specified 2017-07-11 -0.6 0.5 Uncertain significance 0 -447646 Simple . A . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-05-17 -0.6 0.0 Uncertain significance 0 -447653 Simple 374244985 A . Uncertain significance 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2016-12-28 -0.6 1.0 Uncertain significance 0 -447661 Simple 140389534 C . Uncertain significance 2 2 not specified;Nemaline myopathy 8 2017-04-05 -0.6 0.5 Uncertain significance 0 -447662 Simple 138852341 T . Benign/Likely benign 2 2 not specified;Nemaline myopathy 8 2017-07-17 -9.0 0.0 Benign/Likely benign 0 -447680 Simple 138162760 G . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2016-10-07 -0.6 1.0 Uncertain significance 0 -447681 Simple 370691060 A . Benign 2 2 Laminin alpha 2-related dystrophy;not specified 2017-06-06 -12.0 0.5 Benign/Likely benign 1 -447732 Simple 377495735 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type I;not specified 2017-04-14 -0.6 0.5 Uncertain significance 0 -447736 Simple 984874083 A . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-07-20 9.0 0.5 Pathogenic/Likely pathogenic 0 -447737 Simple 776033471 C . Likely benign 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-02-25 -6.0 1.0 Likely benign 0 -447748 Simple 201959970 A . Likely benign 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-06-05 -6.0 0.5 Likely benign 0 -447749 Simple . C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-05-18 -0.6 0.0 Uncertain significance 0 -447760 Simple . AA . Uncertain significance 2 2 not specified 2017-08-14 -0.6 0.5 Uncertain significance 0 -447762 Simple . C . Uncertain significance 2 2 Charcot-Marie-Tooth disease type 2E;not specified 2017-07-20 -0.6 0.5 Uncertain significance 0 -447766 Simple 944860201 G . Uncertain significance 2 2 Spastic paraplegia 6;not specified 2017-07-27 -0.6 0.5 Uncertain significance 0 -447862 Simple 775267348 A . Pathogenic/Likely pathogenic 2 2 not provided 2017-10-05 7.8 1.5 Likely pathogenic 1 -447867 Simple . T . Pathogenic/Likely pathogenic 2 2 not provided 2017-04-13 8.4 1.0 Pathogenic/Likely pathogenic 0 -447886 Simple . T . Uncertain significance 2 2 Pitt-Hopkins-like syndrome 2;not specified 2017-07-06 -0.6 0.0 Uncertain significance 0 -447939 Simple 61755362 A . Benign 2 2 Multiple congenital anomalies-hypotonia-seizures syndrome 1;not specified 2017-07-31 -12.0 0.0 Benign/Likely benign 1 -448037 Simple . - . Pathogenic 2 2 Polycystic kidney disease, autosomal dominant;not provided 2017-06-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -448063 Simple 370431965 G . Uncertain significance 2 2 not specified 2017-09-13 -0.6 0.5 Uncertain significance 0 -448069 Simple 185790521 T . Benign 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-03-15 -12.0 0.5 Benign/Likely benign 1 -448080 Simple 200176579 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-04-11 -0.6 0.5 Uncertain significance 0 -448121 Simple 144455095 T . Benign 2 2 Epilepsy, progressive myoclonic 5;not specified 2017-05-16 -12.0 0.5 Benign/Likely benign 1 -448123 Simple 367680077 A . Likely benign 2 2 Epilepsy, progressive myoclonic 5;not specified 2017-04-27 -6.0 0.5 Likely benign 0 -448164 Simple 362793 C . Benign/Likely benign 2 2 Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7 2017-04-22 -9.0 0.5 Benign/Likely benign 0 -448204 Simple 544249449 C . Uncertain significance 2 2 not specified;Spastic paraplegia 2017-06-23 -0.6 0.5 Uncertain significance 0 -448229 Simple 143557803 A . Uncertain significance 2 2 not specified;Spastic paraplegia 2017-05-30 -0.6 0.5 Uncertain significance 0 -448241 Simple 145647154 C . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-05-01 -0.6 0.5 Uncertain significance 0 -448262 Simple 121908552 G . Uncertain significance 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-07-03 -0.6 0.5 Uncertain significance 0 -448280 Simple 748517635 T . Uncertain significance 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-05-05 -0.6 0.5 Uncertain significance 0 -448286 Simple 766365683 C . Uncertain significance 2 2 Hyperkalemic Periodic Paralysis Type 1;not specified 2017-01-30 -0.6 1.0 Uncertain significance 0 -448295 Simple . A . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-03-17 -0.6 0.5 Uncertain significance 0 -448310 Simple 34781846 G . Benign 2 2 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified 2017-06-27 -12.0 0.0 Benign/Likely benign 1 -448313 Simple 200459144 A . Uncertain significance 2 2 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified 2017-06-14 -0.6 0.5 Uncertain significance 0 -448329 Simple 143661911 T . Uncertain significance 2 2 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified 2017-08-08 -0.6 0.0 Uncertain significance 0 -448337 Simple 776470487 - . Pathogenic/Likely pathogenic 2 2 not provided 2017-09-19 9.0 0.5 Pathogenic/Likely pathogenic 0 -448341 Simple 117861188 G . Uncertain significance 2 2 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified 2017-04-18 -0.6 0.5 Uncertain significance 0 -448343 Simple 145397619 T . Uncertain significance 2 2 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified 2017-06-07 -0.6 0.0 Uncertain significance 0 -448348 Simple 770590408 - . Uncertain significance 2 2 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified 2017-08-02 -0.6 0.5 Uncertain significance 0 -448355 Simple 201696689 - . Benign 2 2 Myoclonic dystonia;not specified 2017-08-14 -12.0 0.5 Benign/Likely benign 1 -448358 Simple . - . Pathogenic 2 2 Myoclonic dystonia;not provided 2016-12-12 12.0 1.0 Pathogenic/Likely pathogenic 1 -448368 Simple 144688852 A . Uncertain significance 2 2 not specified 2017-07-03 -0.6 0.0 Uncertain significance 0 -448380 Simple 28510483 A . Benign 2 2 not specified;Epileptic encephalopathy, early infantile, 30 2017-08-03 -12.0 0.0 Benign/Likely benign 1 -448383 Simple 146164392 A . Likely benign 2 2 Marinesco-Sjögren syndrome;not specified 2016-12-20 -6.0 1.0 Likely benign 0 -448453 Simple . G . Pathogenic 2 3 Spastic paraplegia 4, autosomal dominant;not provided 2017-11-28 17.4 0.6666666666666666 Pathogenic 0 -448460 Simple 6534369 T . Benign 2 2 not specified;Epilepsy, hearing loss, and mental retardation syndrome 2017-08-14 -12.0 0.0 Benign/Likely benign 1 -448535 Simple 144094037 T . Benign 2 2 not specified;Early infantile epileptic encephalopathy 2017-07-03 -12.0 0.0 Benign/Likely benign 1 -448564 Simple 200589166 G . Uncertain significance 2 2 not specified 2017-09-08 -0.6 0.0 Uncertain significance 0 -448569 Simple 35079654 A . Benign/Likely benign 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-06-05 -9.0 0.0 Benign/Likely benign 0 -448572 Simple 777618601 G . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-06-28 -0.6 0.5 Uncertain significance 0 -448575 Simple 138032057 T . Benign/Likely benign 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-04-19 -9.0 0.5 Benign/Likely benign 0 -448595 Simple 377446250 C . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-04-11 -0.6 0.0 Uncertain significance 0 -448602 Simple . A . Uncertain significance 2 2 Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not specified 2017-06-29 -0.6 0.0 Uncertain significance 0 -448627 Simple 114483901 A . Benign 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-05-30 -12.0 0.5 Benign/Likely benign 1 -448630 Simple . GAA . Uncertain significance 2 2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified 2017-07-21 -0.6 0.5 Uncertain significance 0 -448632 Simple 761080544 G . Uncertain significance 2 2 not specified 2017-08-24 -0.6 0.5 Uncertain significance 0 -448685 Simple 138345513 T . Benign/Likely benign 2 2 Dystonia 6, torsion;not specified 2017-05-02 -9.0 0.5 Benign/Likely benign 0 -448694 Simple 148567547 G . Uncertain significance 2 2 not specified;Limb-girdle muscular dystrophy, type 2S 2017-04-21 -0.6 0.5 Uncertain significance 0 -448695 Simple 143990563 G . Uncertain significance 2 2 not specified;Limb-girdle muscular dystrophy, type 2S 2017-06-20 -0.6 0.0 Uncertain significance 0 -448700 Simple 113269326 G . Benign/Likely benign 2 2 not specified;Limb-girdle muscular dystrophy, type 2S 2017-05-16 -9.0 0.5 Benign/Likely benign 0 -448701 Simple 114748616 G . Benign 2 2 not specified;Limb-girdle muscular dystrophy, type 2S 2017-08-02 -12.0 0.5 Benign/Likely benign 1 -448716 Simple 779395169 A . Uncertain significance 2 2 Tuberous sclerosis 1;not specified 2017-05-24 -0.6 0.5 Uncertain significance 0 -448738 Simple 138831802 A . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-07-24 -0.6 0.0 Uncertain significance 0 -448767 Simple . C . Pathogenic/Likely pathogenic 2 2 not provided 2016-10-05 8.4 1.5 Pathogenic/Likely pathogenic 0 -448770 Simple 766300782 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-24 -0.6 0.0 Uncertain significance 0 -448771 Simple 72648948 T . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-10 -0.6 1.0 Uncertain significance 0 -448774 Simple 200954184 C . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-04-14 -0.6 0.5 Uncertain significance 0 -448783 Simple 781737736 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-07-29 -0.6 0.5 Uncertain significance 0 -448795 Simple 200914097 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-20 -0.6 0.0 Uncertain significance 0 -448797 Simple 374419129 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -0.6 0.5 Uncertain significance 0 -448799 Simple 775513269 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-03-07 -0.6 0.5 Uncertain significance 0 -448809 Simple 372685222 A . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-06 -0.6 0.5 Uncertain significance 0 -448815 Simple 181702963 A . Benign/Likely benign 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-06-19 -9.0 0.5 Benign/Likely benign 0 -448821 Simple 72648219 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-02-10 -0.6 1.0 Uncertain significance 0 -448922 Simple . . . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448923 Simple . G . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448924 Simple 545495379 C . Benign 3 2 Rasopathy 2017-04-18 -9.6 0.0 Benign/Likely benign 1 -448925 Simple 371877084 T . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448926 Simple 766909143 C . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448927 Simple 5746244 T . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448928 Simple 775898894 C . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448929 Simple 201776526 C . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448930 Simple 200856000 T . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448931 Simple 115713408 A . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448932 Simple 138375593 T . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448933 Simple 768411950 G . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448934 Simple 199723694 T . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448935 Simple 767912952 C . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448936 Simple 771283010 T . Likely benign 3 2 Rasopathy 2017-04-18 -9.3 0.0 Benign/Likely benign 1 -448937 Simple 771283010 A . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448938 Simple 776814547 T . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448939 Simple 200485215 C . Benign 3 2 Rasopathy 2017-04-18 -12.6 0.5 Benign/Likely benign 1 -448940 Simple 146383828 G . Likely benign 3 2 Rasopathy 2017-04-18 -6.3 0.0 Likely benign 0 -448941 Simple 558386297 A . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448942 Simple 200712930 G . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448943 Simple 757213444 C . Benign 3 2 Rasopathy 2017-04-18 -6.8999999999999995 0.0 Likely benign 2 -448944 Simple 748478952 T . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448945 Simple 144757941 C . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448946 Simple 560037748 C . Likely benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448947 Simple 201649682 G . Benign 3 1 Rasopathy 2017-04-18 . 0.0 . 0 -448948 Simple 748953467 C . Likely benign 3 1 Rasopathy 2017-05-09 . 0.0 . 0 -448949 Simple 200293968 C . Likely benign 3 1 Rasopathy 2017-05-09 . 0.0 . 0 -448950 Simple 185999703 A . Likely benign 3 1 Rasopathy 2017-05-09 . 0.0 . 0 -448951 Simple . T . Benign 3 1 Rasopathy 2017-05-09 . 0.0 . 0 -448952 Simple 561400866 A . Benign 3 1 Rasopathy 2017-05-09 . 0.0 . 0 -448953 Simple 201526172 A . Benign 3 1 Rasopathy 2017-05-09 . 0.0 . 0 -448954 Simple 767770776 A . Likely benign 3 1 Rasopathy 2017-05-09 . 0.0 . 0 -448987 Simple 876659351 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -448994 Simple 756490117 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;not specified 2017-10-25 -0.6 0.0 Uncertain significance 0 -449014 Simple 199544410 T . Pathogenic 2 2 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Autosomal dominant hypohidrotic ectodermal dysplasia;not provided 2017-08-01 12.0 0.0 Pathogenic/Likely pathogenic 1 -449021 Simple 142906652 C . Uncertain significance 2 2 Fanconi anemia;not specified 2017-07-07 -0.6 0.0 Uncertain significance 0 -449024 Simple . C . Pathogenic/Likely pathogenic 2 2 not provided;FGFR2 related craniosynostosis 2017-07-12 9.0 0.0 Pathogenic/Likely pathogenic 0 -449059 Simple . G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-30 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -449060 Simple 147342421 C . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-26 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -449062 Simple 63751244 A . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-08-21 -0.6 0.0 Uncertain significance 0 -449063 Simple 1044486319 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.5 Uncertain significance 0 -449081 Simple . CT . Uncertain significance 2 2 Multiple congenital anomalies-hypotonia-seizures syndrome 1;not specified 2017-09-28 -0.6 0.0 Uncertain significance 0 -449169 Simple 377029630 T . Uncertain significance 2 2 Ceroid lipofuscinosis neuronal 7;not specified 2017-02-28 -0.6 1.0 Uncertain significance 0 -449180 Simple 368280765 T . Uncertain significance 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-07-27 -0.6 0.5 Uncertain significance 0 -449208 Simple . T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-04-04 9.0 0.5 Pathogenic/Likely pathogenic 0 -449221 Simple . - . Pathogenic 2 2 Long QT syndrome;not provided 2017-07-14 12.0 0.0 Pathogenic/Likely pathogenic 1 -449248 Simple 145844320 A . Uncertain significance 2 2 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified 2017-07-25 -0.5700000000000001 1.0 Uncertain significance 0 -449255 Simple 747728399 G . Uncertain significance 2 3 Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome 2017-06-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -449345 Simple 786203796 C . Pathogenic/Likely pathogenic 2 4 Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome 2017-07-11 19.8 1.0 Pathogenic 1 -449347 Simple . A . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;not provided 2017-06-05 9.0 0.0 Pathogenic/Likely pathogenic 0 -449360 Simple 140288103 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-09-01 -0.6 0.5 Uncertain significance 0 -449382 Simple . A . Pathogenic/Likely pathogenic 2 2 Ornithine carbamoyltransferase deficiency;not provided 2016-12-20 8.4 1.5 Pathogenic/Likely pathogenic 0 -449417 Simple 769237459 A . Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-10-24 9.0 0.0 Pathogenic/Likely pathogenic 1 -449423 Simple . T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-14 12.0 0.0 Pathogenic/Likely pathogenic 1 -449424 Simple . T . Pathogenic 2 2 Neurofibromatosis, type 1;not provided 2017-09-06 12.0 0.0 Pathogenic/Likely pathogenic 1 -449448 Simple 747323414 - . Likely pathogenic 2 2 Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not provided 2017-05-07 6.0 0.0 Likely pathogenic 0 -449502 Simple 375628303 T . Pathogenic/Likely pathogenic 2 2 Nemaline myopathy 2;not provided 2016-08-29 8.4 1.5 Pathogenic/Likely pathogenic 0 -449533 Simple 1021330566 T . Pathogenic/Likely pathogenic 2 2 Combined oxidative phosphorylation deficiency 12;not provided 2017-12-09 9.0 0.0 Pathogenic/Likely pathogenic 0 -449550 Simple 199907781 T . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-10-19 -0.6 0.5 Uncertain significance 0 -449580 Simple 45457297 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-06-26 -0.5700000000000001 1.0 Uncertain significance 0 -449667 Simple 763344790 G . Uncertain significance 2 3 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-10 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -449677 Simple 201606637 A . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-10-19 -0.6 0.0 Uncertain significance 0 -449704 Simple 181287533 A . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-09-08 -0.6 0.0 Uncertain significance 0 -449706 Simple 372848098 A . Uncertain significance 2 2 Progressive familial heart block type 1B;not specified 2017-07-31 -0.6 0.0 Uncertain significance 0 -449723 Simple 537051622 A . Uncertain significance 2 4 Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome 2017-05-03 -1.2 0.25 Uncertain significance 0 -449736 Simple . C . Pathogenic/Likely pathogenic 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided 2017-05-18 9.0 0.5 Pathogenic/Likely pathogenic 0 -449747 Simple . G . Pathogenic/Likely pathogenic 2 2 Cohen syndrome;not provided 2017-07-04 9.0 0.5 Pathogenic/Likely pathogenic 0 -449782 Simple 763985746 G . Uncertain significance 2 2 not specified;Hereditary nonpolyposis colon cancer 2017-03-14 -0.6 0.5 Uncertain significance 0 -449787 Simple 200839945 A . Uncertain significance 2 2 Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified 2017-06-16 -0.6 0.0 Uncertain significance 0 -449826 Simple . T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-06-12 9.0 0.5 Pathogenic/Likely pathogenic 0 -449851 Simple 569086883 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome 2017-05-18 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -449856 Simple . . . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-02-27 12.0 1.0 Pathogenic/Likely pathogenic 1 -449923 Simple 768407867 T . Likely pathogenic 2 2 Lethal multiple pterygium syndrome;not provided 2017-04-24 6.0 0.5 Likely pathogenic 0 -449925 Simple 763712971 G . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -449941 Simple . A . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-08-08 12.0 0.0 Pathogenic/Likely pathogenic 1 -449968 Simple 754660432 C . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-10-23 6.0 0.5 Likely pathogenic 0 -449977 Simple . AA . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.0 Uncertain significance 0 -449982 Simple . CTCGCTTTGGAC . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;not provided 2017-07-27 12.0 0.0 Pathogenic/Likely pathogenic 1 -450093 Simple . C . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-07-18 -0.6 0.0 Uncertain significance 0 -450119 Simple 776569219 T . Pathogenic 2 2 Nemaline myopathy 2;not provided 2017-06-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -450150 Simple 143623535 A . Uncertain significance 2 2 Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant 2017-06-29 -0.6 0.0 Uncertain significance 0 -450153 Simple 762095177 C . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-06-29 -0.6 0.5 Uncertain significance 0 -450191 Simple . C . Uncertain significance 2 2 Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;not specified 2017-07-06 -0.6 0.5 Uncertain significance 0 -450276 Simple . G . Uncertain significance 2 2 Mowat-Wilson syndrome;not specified 2017-07-11 -0.6 0.0 Uncertain significance 0 -450302 Simple 141340479 A . Uncertain significance 2 2 Laminin alpha 2-related dystrophy;not specified 2017-07-07 -0.6 0.0 Uncertain significance 0 -450353 Simple 543167736 G . Uncertain significance 2 2 Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified 2017-07-19 -0.6 0.0 Uncertain significance 0 -450364 Simple . A . Uncertain significance 2 2 not specified;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 2017-07-03 -0.6 0.0 Uncertain significance 0 -450370 Simple . A . Pathogenic/Likely pathogenic 2 2 not provided 2017-11-01 9.0 0.0 Pathogenic/Likely pathogenic 0 -450374 Simple 777795093 T . Uncertain significance 2 2 not specified;Multiple congenital anomalies-hypotonia-seizures syndrome 2 2017-07-13 -0.6 0.0 Uncertain significance 0 -450584 Simple 781672875 T . Uncertain significance 2 2 not specified;Luscan-lumish syndrome 2017-07-20 -0.6 0.0 Uncertain significance 0 -450586 Simple 377736535 G . Uncertain significance 2 2 Spastic paraplegia 3;not specified 2017-07-17 -0.6 0.5 Uncertain significance 0 -450677 Simple 376829041 A . Uncertain significance 2 2 not specified;Hyperphosphatasia with mental retardation syndrome 2 2017-07-26 -0.6 0.0 Uncertain significance 0 -450701 Simple 35846833 T . Uncertain significance 2 2 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency;not specified 2017-07-25 -0.6 0.0 Uncertain significance 0 -450750 Simple . C . Uncertain significance 2 2 not specified;Catecholaminergic polymorphic ventricular tachycardia 2017-07-24 -0.6 0.0 Uncertain significance 0 -450786 Simple . T . Pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-27 18.0 0.0 Pathogenic 0 -450839 Simple 139881415 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;not specified 2017-07-24 -0.6 0.0 Uncertain significance 0 -450841 Simple 778520978 T . Uncertain significance 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-07-25 -0.6 0.0 Uncertain significance 0 -450910 Simple 555405542 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-01 -0.6 0.0 Uncertain significance 0 -450949 Simple 778069675 T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-07-31 -0.6 0.0 Uncertain significance 0 -451086 Simple 376306906 A . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-08-25 -0.6 0.0 Uncertain significance 0 -451115 Simple 756361248 T . Uncertain significance 2 2 Progressive familial heart block type 1B;not specified 2017-08-04 -0.6 0.0 Uncertain significance 0 -451139 Simple 373866304 T . Uncertain significance 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified 2017-08-02 -0.6 0.0 Uncertain significance 0 -451148 Simple 751567476 A . Likely pathogenic 2 3 not provided;Hereditary cancer-predisposing syndrome 2017-08-21 9.0 0.0 Pathogenic/Likely pathogenic 1 -451155 Simple . A . Pathogenic/Likely pathogenic 2 2 Osteogenesis imperfecta type I;not provided 2017-08-22 9.0 0.0 Pathogenic/Likely pathogenic 0 -451285 Simple 151334741 G . Uncertain significance 2 2 Neuronal ceroid lipofuscinosis;not specified 2017-08-09 -0.6 0.0 Uncertain significance 0 -451307 Simple 373587647 T . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-08-17 -0.6 0.5 Uncertain significance 0 -451327 Simple 200819602 A . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type IV;not specified 2017-08-10 -0.6 0.0 Uncertain significance 0 -451329 Simple 374011613 A . Uncertain significance 2 2 Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified 2017-08-09 -0.6 0.0 Uncertain significance 0 -451333 Simple 782743395 T . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-08-18 -0.6 0.0 Uncertain significance 0 -451350 Simple . T . Uncertain significance 2 2 Dystonia 10;not specified 2017-08-21 -0.6 0.0 Uncertain significance 0 -451385 Simple 375149365 G . Uncertain significance 2 2 Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified 2017-08-11 -0.6 0.0 Uncertain significance 0 -451387 Simple 758654750 T . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-08-15 -0.6 0.0 Uncertain significance 0 -451540 Simple 150989902 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified 2017-08-23 -0.6 0.0 Uncertain significance 0 -451573 Simple 745417690 C . Uncertain significance 2 2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified 2017-08-23 -0.6 0.5 Uncertain significance 0 -451633 Simple 568814745 T . Uncertain significance 2 2 Nemaline myopathy 2;not specified 2017-08-31 -0.6 0.0 Uncertain significance 0 -451704 Simple 371188899 A . Uncertain significance 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2017-09-18 -0.6 0.0 Uncertain significance 0 -451736 Simple 369536711 C . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-08-28 -0.6 0.0 Uncertain significance 0 -451745 Simple 140871298 G . Uncertain significance 2 2 not specified;Aortic aneurysm, familial thoracic 8 2017-08-31 -0.6 0.0 Uncertain significance 0 -451762 Simple 139734064 T . Uncertain significance 2 2 Pontocerebellar hypoplasia type 1A;not specified 2017-09-14 -0.6 0.0 Uncertain significance 0 -451773 Simple . A . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-01 6.0 0.5 Likely pathogenic 0 -451789 Simple 370310838 G . Uncertain significance 2 2 Multiple congenital anomalies-hypotonia-seizures syndrome 1;not specified 2017-09-07 -0.6 0.0 Uncertain significance 0 -451807 Simple . T . Pathogenic/Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-08-31 9.0 0.5 Pathogenic/Likely pathogenic 0 -451829 Simple . T . Uncertain significance 2 2 Tuberous sclerosis 2;not specified 2017-09-08 -0.6 0.0 Uncertain significance 0 -451845 Simple 754554333 T . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2017-09-05 -0.6 0.0 Uncertain significance 0 -451874 Simple 63750443 T . Pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-08-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -451929 Simple 138357804 T . Uncertain significance 2 2 Inclusion body myopathy 2;Sialuria;not specified 2017-09-06 -0.6 0.0 Uncertain significance 0 -451931 Simple 776423551 T . Uncertain significance 2 2 Charcot-Marie-Tooth disease, type 2;not specified 2017-09-11 -0.6 0.0 Uncertain significance 0 -451941 Simple 200979896 A . Uncertain significance 2 2 Alstrom syndrome;not specified 2017-09-08 -0.6 0.0 Uncertain significance 0 -451956 Simple 989279969 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-09-13 -0.6 0.0 Uncertain significance 0 -451958 Simple 200249446 A . Uncertain significance 2 2 Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy 2017-09-08 -0.6 0.0 Uncertain significance 0 -452024 Simple . C . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;not specified 2017-09-22 -0.6 0.0 Uncertain significance 0 -452134 Simple 373898385 C . Uncertain significance 2 2 Duchenne muscular dystrophy;not specified 2017-09-18 -0.6 0.0 Uncertain significance 0 -452164 Simple 757804090 A . Uncertain significance 2 2 Progressive sclerosing poliodystrophy;not specified 2017-09-22 -0.6 0.0 Uncertain significance 0 -452183 Simple 569395560 C . Uncertain significance 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-09-15 -0.6 0.0 Uncertain significance 0 -452197 Simple 141806013 A . Uncertain significance 2 2 Bardet-Biedl syndrome;not specified 2017-09-18 -0.6 0.0 Uncertain significance 0 -452208 Simple 145081333 T . Uncertain significance 2 2 Hereditary insensitivity to pain with anhidrosis;not specified 2017-09-22 -0.6 0.0 Uncertain significance 0 -452287 Simple 766346620 A . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD) 2017-10-06 -0.6 0.5 Uncertain significance 0 -452299 Simple . A . Likely pathogenic 2 2 Familial cancer of breast;not provided 2017-09-21 6.0 0.0 Likely pathogenic 0 -452307 Simple 940304129 A . Uncertain significance 2 2 not specified;Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant 2017-09-28 -0.6 0.5 Uncertain significance 0 -452310 Simple . T . Likely pathogenic 2 2 not provided;Hereditary cancer-predisposing syndrome 2017-09-21 6.0 0.0 Likely pathogenic 0 -452316 Simple 137880635 C . Uncertain significance 2 2 Multiple endocrine neoplasia, type 1;not specified 2017-09-26 -0.6 0.0 Uncertain significance 0 -452326 Simple 748508785 A . Uncertain significance 2 2 Cortical dysplasia-focal epilepsy syndrome;not specified 2017-09-26 -0.6 0.0 Uncertain significance 0 -452438 Simple 377750450 T . Uncertain significance 2 2 not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5 2017-09-28 -0.6 0.0 Uncertain significance 0 -452602 Simple . A . Uncertain significance 2 2 not specified;Hypertrophic cardiomyopathy 2017-10-05 -0.6 0.0 Uncertain significance 0 -452610 Simple . T . Likely pathogenic 2 2 Osteogenesis imperfecta type I;not provided 2017-10-06 6.0 0.0 Likely pathogenic 0 -452807 Simple 755340060 G . Uncertain significance 2 2 Early infantile epileptic encephalopathy 12;not specified 2017-10-27 -0.6 0.0 Uncertain significance 0 -452827 Simple . - . Likely pathogenic 2 2 not provided;Intellectual developmental disorder with dysmorphic facies and ptosis 2017-11-09 6.0 0.0 Likely pathogenic 0 -452828 Simple 750123189 G . Uncertain significance 2 2 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like;not specified 2017-10-17 -0.6 0.0 Uncertain significance 0 -452907 Simple 140393851 A . Uncertain significance 2 2 not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-10-25 -0.6 0.0 Uncertain significance 0 -452986 Simple 772566556 T . Uncertain significance 2 2 not specified;RYR1-Related Disorders 2017-10-26 -0.6 0.0 Uncertain significance 0 -452996 Simple 182042247 A . Uncertain significance 2 2 not specified;Epileptic encephalopathy, early infantile, 25 2017-10-26 -0.6 0.0 Uncertain significance 0 -453005 Simple 138109666 A . Uncertain significance 2 2 Bethlem myopathy 1;not specified 2017-10-27 -0.6 0.0 Uncertain significance 0 -453117 Simple 1051400743 A . Uncertain significance 2 2 Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified 2017-11-01 -0.6 0.0 Uncertain significance 0 -453137 Simple 1020747496 T . Uncertain significance 2 2 not specified;Adams-Oliver syndrome 5 2017-11-02 -0.6 0.5 Uncertain significance 0 -453214 Simple . - . Pathogenic 2 2 Neurofibromatosis, type 2;not provided 2017-11-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -453350 Simple . - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -453362 Simple 780097986 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.0 Uncertain significance 0 -453363 Simple 939650649 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-18 -6.0 1.0 Likely benign 0 -453367 Simple . G . Pathogenic/Likely pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-30 15.0 0.6666666666666666 Pathogenic 1 -453368 Simple . C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-05 -9.0 0.3333333333333333 Benign/Likely benign 1 -453370 Simple 750280306 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.5 Uncertain significance 0 -453377 Simple 758056561 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-07 -0.6 0.5 Uncertain significance 0 -453380 Simple 372334891 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -453381 Simple 776911505 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-15 -0.6 0.5 Uncertain significance 0 -453391 Simple 758325274 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-16 12.0 0.0 Pathogenic/Likely pathogenic 1 -453392 Simple 200169643 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-26 -0.8999999999999999 1.0 Uncertain significance 0 -453399 Simple 748380150 A . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -8.7 1.0 Benign/Likely benign 1 -453406 Simple 887317346 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.8999999999999999 0.0 Uncertain significance 0 -453409 Simple . T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 12.0 0.5 Pathogenic/Likely pathogenic 1 -453431 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-02 -0.6 0.5 Uncertain significance 0 -453452 Simple . C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -9.0 0.0 Benign/Likely benign 1 -453462 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -0.6 0.5 Uncertain significance 0 -453467 Simple . A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-13 -6.0 1.0 Likely benign 0 -453479 Simple 587782861 - . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-29 10.8 1.5 Pathogenic/Likely pathogenic 1 -453486 Simple 730881363 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -453509 Simple 755618506 A . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -0.87 0.6666666666666666 Uncertain significance 0 -453521 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-16 -0.6 0.5 Uncertain significance 0 -453522 Simple 769071554 C . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -9.0 0.3333333333333333 Benign/Likely benign 1 -453531 Simple 537377433 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.5 Uncertain significance 0 -453535 Simple 864622164 . . Pathogenic 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 17.4 0.6666666666666666 Pathogenic 0 -453536 Simple . T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-21 -6.0 0.5 Likely benign 0 -453538 Simple 749475519 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -5.7 1.0 Likely benign 0 -453540 Simple 777239020 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-16 -9.0 0.0 Benign/Likely benign 1 -453541 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.5 Uncertain significance 0 -453543 Simple 933030670 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-01 -0.6 0.5 Uncertain significance 0 -453545 Simple . C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-31 -0.6 0.5 Uncertain significance 0 -453557 Simple . C . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -453561 Simple . A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 -0.6 0.5 Uncertain significance 0 -453568 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-19 -0.6 0.5 Uncertain significance 0 -453571 Simple . G . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -8.7 1.0 Benign/Likely benign 1 -453572 Simple . A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -0.6 0.5 Uncertain significance 0 -453573 Simple 768820804 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -453577 Simple 763020528 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-09 -0.6 0.0 Uncertain significance 0 -453587 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.0 Uncertain significance 0 -453589 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-12 -0.5700000000000001 1.5 Uncertain significance 0 -453591 Simple 762304746 C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-08-24 -0.6 0.0 Uncertain significance 0 -453592 Simple . T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-18 -0.6 0.5 Uncertain significance 0 -453599 Simple . T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-28 -0.6 0.5 Uncertain significance 0 -453600 Simple 540054724 T . Likely benign 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-10-09 -8.7 0.6666666666666666 Benign/Likely benign 1 -453606 Simple 786203404 T . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 12.0 0.5 Pathogenic/Likely pathogenic 1 -453608 Simple . T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.0 Uncertain significance 0 -453610 Simple . A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-06 -0.6 0.0 Uncertain significance 0 -453614 Simple 978540099 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-29 -5.7 1.0 Likely benign 0 -453616 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -453619 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-09 -0.6 0.5 Uncertain significance 0 -453620 Simple . A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-04 -0.6 0.5 Uncertain significance 0 -453623 Simple 946541820 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.5700000000000001 1.0 Uncertain significance 0 -453624 Simple . T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-11-27 -0.6 0.5 Uncertain significance 0 -453632 Simple . A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-12 -0.6 0.5 Uncertain significance 0 -453643 Simple . G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-21 -6.0 1.0 Likely benign 0 -453645 Simple . . . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -453647 Simple . . . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -453650 Simple 759878732 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -6.0 0.5 Likely benign 0 -453655 Simple . A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-06 -0.6 1.0 Uncertain significance 0 -453662 Simple 779410490 T . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 -6.0 0.5 Likely benign 0 -453663 Simple . T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -453685 Simple . C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-07-10 -0.5700000000000001 1.0 Uncertain significance 0 -453687 Simple . CCAG . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -453693 Simple 775621333 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-16 -0.6 0.5 Uncertain significance 0 -453695 Simple . C . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.0 Uncertain significance 0 -453697 Simple . GTGA . Pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-05-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -453701 Simple 763730344 C . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-15 -6.0 0.5 Likely benign 0 -453706 Simple 761324887 A . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-27 -6.0 0.5 Likely benign 0 -453709 Simple 754002355 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-09-07 -0.6 0.0 Uncertain significance 0 -453717 Simple . T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.5 Uncertain significance 0 -453719 Simple 587781344 G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-01-12 -0.5700000000000001 1.5 Uncertain significance 0 -453723 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.5 Uncertain significance 0 -453727 Simple 551411717 A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-24 -0.6 1.0 Uncertain significance 0 -453732 Simple 749193688 G . Uncertain significance 2 3 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -453751 Simple . A . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-04-14 -0.6 0.0 Uncertain significance 0 -453755 Simple 863224582 T . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 -0.6 0.5 Uncertain significance 0 -453756 Simple 1042288533 G . Likely benign 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-02-06 -6.0 1.0 Likely benign 0 -453765 Simple . G . Uncertain significance 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -453768 Simple 757579309 C . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -453825 Simple 771732591 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.0 Uncertain significance 0 -453873 Simple 572658914 T . Uncertain significance 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.0 Uncertain significance 0 -453877 Simple 576944494 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-05-18 -6.0 0.0 Likely benign 0 -453893 Simple 201357130 A . Likely benign 2 2 Gorlin syndrome;Hereditary cancer-predisposing syndrome 2017-06-07 -6.0 0.0 Likely benign 0 -453957 Simple 771084342 T . Likely benign 2 2 Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome 2017-04-21 -6.0 0.0 Likely benign 0 -453960 Simple 778125780 G . Uncertain significance 2 2 Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome 2017-06-07 -0.6 0.0 Uncertain significance 0 -453980 Simple 376752468 T . Likely benign 2 2 Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome 2017-07-14 -6.0 0.0 Likely benign 0 -454069 Simple 776516663 A . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-09-21 -0.6 0.0 Uncertain significance 0 -454076 Simple 759810567 C . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-03-03 -0.6 1.0 Uncertain significance 0 -454088 Simple . - . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -454091 Simple 373525781 T . Pathogenic 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -454094 Simple 142787700 C . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-04-21 -6.0 0.5 Likely benign 0 -454111 Simple 372668612 A . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-05-15 -6.0 0.0 Likely benign 0 -454149 Simple 61754135 A . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -6.0 0.0 Likely benign 0 -454153 Simple 753800694 C . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -0.6 0.0 Uncertain significance 0 -454165 Simple 762053925 A . Uncertain significance 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-03-25 -0.6 0.5 Uncertain significance 0 -454166 Simple 139295905 A . Likely benign 2 2 Bloom syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -6.0 0.5 Likely benign 0 -454176 Simple 934426317 G . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-09-08 -6.0 0.0 Likely benign 0 -454177 Simple 747940150 A . Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-04 -5.7 1.0 Likely benign 0 -454180 Simple 375391602 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -454188 Simple 374050750 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-04-18 -0.6 0.5 Uncertain significance 0 -454197 Simple . G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.0 Uncertain significance 0 -454205 Simple 753740913 C . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-05-30 -0.5700000000000001 1.0 Uncertain significance 0 -454218 Simple 376104371 A . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.5 Uncertain significance 0 -454226 Simple . C . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -454239 Simple 755234697 G . Uncertain significance 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-22 -0.6 0.5 Uncertain significance 0 -454255 Simple 200138253 A . Benign/Likely benign 2 2 Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome 2017-06-14 -9.0 0.5 Benign/Likely benign 0 -455105 Simple 201132087 T . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-05 -8.7 1.0 Benign/Likely benign 0 -455123 Simple 777101467 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-31 -6.0 0.0 Likely benign 0 -455126 Simple . A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-23 -9.0 0.6666666666666666 Benign/Likely benign 1 -455127 Simple 34014629 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -0.8999999999999999 0.0 Uncertain significance 0 -455128 Simple 761822293 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-04 -0.6 0.5 Uncertain significance 0 -455134 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -0.5700000000000001 1.0 Uncertain significance 0 -455139 Simple . A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-21 -0.6 0.5 Uncertain significance 0 -455141 Simple 764593111 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-09 -0.6 0.5 Uncertain significance 0 -455143 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-06 -0.6 0.5 Uncertain significance 0 -455153 Simple . C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-09 -0.6 0.5 Uncertain significance 0 -455156 Simple 772363120 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-05 -0.6 0.0 Uncertain significance 0 -455161 Simple 917331457 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-15 -6.0 0.5 Likely benign 0 -455166 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-09 -0.6 1.0 Uncertain significance 0 -455167 Simple . G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -455178 Simple 749711246 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-30 -0.6 0.0 Uncertain significance 0 -455180 Simple 769668640 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-08 -9.0 1.0 Benign/Likely benign 1 -455187 Simple 745442468 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-17 -0.6 0.5 Uncertain significance 0 -455188 Simple . C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-02 -6.0 1.0 Likely benign 0 -455199 Simple . T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-06 -6.0 0.0 Likely benign 0 -455204 Simple 587779925 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-19 -5.7 1.0 Likely benign 0 -455210 Simple 745954217 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-18 -0.6 0.5 Uncertain significance 0 -455216 Simple 761622304 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-15 -0.6 1.0 Uncertain significance 0 -455221 Simple 876658525 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-28 -6.0 0.5 Likely benign 0 -455222 Simple 878853719 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -455223 Simple 771726914 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-07 -9.0 0.3333333333333333 Benign/Likely benign 1 -455226 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-24 -0.6 0.5 Uncertain significance 0 -455252 Simple . A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 -0.6 0.0 Uncertain significance 0 -455255 Simple 730881805 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-07 -0.6 1.0 Uncertain significance 0 -455261 Simple . G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-19 -8.7 0.6666666666666666 Benign/Likely benign 1 -455265 Simple 786201385 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-08 -9.0 0.0 Benign/Likely benign 1 -455266 Simple 904846776 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-11 -0.6 0.0 Uncertain significance 0 -455274 Simple . C . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-26 6.0 0.0 Likely pathogenic 0 -455277 Simple . . . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-31 12.0 0.0 Pathogenic/Likely pathogenic 1 -455283 Simple . T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-06 -9.0 0.0 Benign/Likely benign 1 -455301 Simple . C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -455305 Simple 41294988 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-20 -0.6 0.0 Uncertain significance 0 -455306 Simple . A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-08 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -455326 Simple 587781955 - . Likely benign 2 3 Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-09 -7.800000000000001 2.0 Likely benign 0 -455331 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-29 -0.6 0.5 Uncertain significance 0 -455338 Simple . - . Uncertain significance 2 3 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-16 -0.8999999999999999 0.0 Uncertain significance 0 -455340 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-12 -0.6 0.0 Uncertain significance 0 -455342 Simple 762168786 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-29 -0.6 0.5 Uncertain significance 0 -455346 Simple . A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-11 -9.0 0.3333333333333333 Benign/Likely benign 1 -455351 Simple 750949635 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-10 -0.6 0.5 Uncertain significance 0 -455357 Simple 755878786 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-31 -0.6 0.0 Uncertain significance 0 -455359 Simple 761581941 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-11 -8.7 1.0 Benign/Likely benign 1 -455364 Simple 750980386 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-26 -0.6 1.0 Uncertain significance 0 -455379 Simple 63751094 T . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-15 6.0 0.5 Likely pathogenic 0 -455390 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-19 -0.6 0.5 Uncertain significance 0 -455393 Simple 772245091 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -0.6 0.5 Uncertain significance 0 -455398 Simple . A . Pathogenic 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 12.0 0.0 Pathogenic/Likely pathogenic 1 -455405 Simple . G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-06 -8.7 0.6666666666666666 Benign/Likely benign 1 -455409 Simple 376866470 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-11 -6.0 0.0 Likely benign 0 -455413 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-14 -0.6 0.5 Uncertain significance 0 -455415 Simple 876659002 TC . Uncertain significance 2 4 not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-28 -1.2 0.25 Uncertain significance 0 -455422 Simple 752850761 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-01 -0.6 0.5 Uncertain significance 0 -455426 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-09 -0.6 0.5 Uncertain significance 0 -455430 Simple 371667663 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -0.6 0.5 Uncertain significance 0 -455439 Simple 776643257 C . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-03 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -455454 Simple 104894997 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-01 -0.6 0.0 Uncertain significance 0 -455467 Simple 372578171 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-14 -9.0 0.6666666666666666 Benign/Likely benign 1 -455476 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-10 -0.5700000000000001 1.5 Uncertain significance 0 -455480 Simple . C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-30 -6.0 0.0 Likely benign 0 -455483 Simple 1010360604 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-03 -6.0 0.5 Likely benign 0 -455484 Simple 267607954 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -0.6 0.5 Uncertain significance 0 -455485 Simple 777963115 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-16 -0.8999999999999999 0.0 Uncertain significance 0 -455487 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-31 -0.6 0.0 Uncertain significance 0 -455490 Simple 780702096 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-02 -0.6 1.0 Uncertain significance 0 -455494 Simple 138049198 G . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-22 -9.0 0.6666666666666666 Benign/Likely benign 1 -455502 Simple . C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-17 -6.0 0.5 Likely benign 0 -455518 Simple . C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-03 -6.0 0.5 Likely benign 0 -455519 Simple 777351049 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-14 -0.6 0.5 Uncertain significance 0 -455522 Simple 951988481 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-15 -0.6 0.5 Uncertain significance 0 -455523 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-12 -0.6 0.5 Uncertain significance 0 -455526 Simple 778152746 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-08 -0.6 0.5 Uncertain significance 0 -455528 Simple 759263820 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-15 -0.6 0.0 Uncertain significance 0 -455532 Simple . A . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-10-20 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -455535 Simple 767941059 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-03 -6.0 0.5 Likely benign 0 -455547 Simple 370636719 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -455548 Simple 1114167847 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-04 -0.5700000000000001 1.0 Uncertain significance 0 -455550 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-25 -0.5700000000000001 1.5 Uncertain significance 0 -455561 Simple . A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -0.6 0.5 Uncertain significance 0 -455565 Simple 779729016 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-12 -0.6 0.0 Uncertain significance 0 -455566 Simple 965790911 T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-14 -8.7 1.3333333333333333 Benign/Likely benign 1 -455571 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-03 -0.6 0.5 Uncertain significance 0 -455572 Simple . G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-17 -6.0 0.5 Likely benign 0 -455580 Simple 876658718 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-07 -6.0 0.0 Likely benign 0 -455581 Simple 786203553 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-17 -0.6 0.5 Uncertain significance 0 -455591 Simple 937438549 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-06 -6.0 1.0 Likely benign 0 -455593 Simple 876658188 G . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -455622 Simple 876660115 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-26 -0.6 0.5 Uncertain significance 0 -455626 Simple 769242733 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-24 -0.6 0.5 Uncertain significance 0 -455627 Simple . A . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-26 -8.7 1.3333333333333333 Benign/Likely benign 1 -455629 Simple . T . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-09-18 -8.7 1.0 Benign/Likely benign 1 -455630 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-18 -0.6 0.5 Uncertain significance 0 -455634 Simple . T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-03-10 -5.7 1.0 Likely benign 0 -455640 Simple . A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-17 -0.6 0.0 Uncertain significance 0 -455643 Simple 573123885 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-18 -0.8999999999999999 0.0 Uncertain significance 0 -455650 Simple 752666485 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-18 -6.0 1.0 Likely benign 0 -455656 Simple . C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-16 -0.6 0.5 Uncertain significance 0 -455668 Simple 551226281 C . Likely benign 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-23 -8.7 1.3333333333333333 Benign/Likely benign 1 -455669 Simple . C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-01-09 -0.6 1.0 Uncertain significance 0 -455676 Simple 778531080 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-11-14 -0.8999999999999999 0.0 Uncertain significance 0 -455688 Simple . A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-07 -0.6 0.5 Uncertain significance 0 -455689 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-04-12 -0.6 0.5 Uncertain significance 0 -455698 Simple 201914670 T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-02-17 -0.6 1.0 Uncertain significance 0 -455701 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-02 -0.6 0.0 Uncertain significance 0 -455704 Simple 754350493 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-08-11 -0.6 0.0 Uncertain significance 0 -455707 Simple . A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-05-09 -0.6 0.5 Uncertain significance 0 -455711 Simple 951573893 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-09 -6.0 0.5 Likely benign 0 -455721 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-08 -0.6 0.0 Uncertain significance 0 -455722 Simple . C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-07-17 -0.6 0.0 Uncertain significance 0 -455741 Simple 775445157 T . Uncertain significance 2 3 Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer 2017-06-19 -0.8999999999999999 0.0 Uncertain significance 0 -455767 Simple 797045156 - . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.6 0.0 Pathogenic/Likely pathogenic 1 -456163 Simple 761347179 - . Uncertain significance 2 2 Fanconi anemia;Hereditary cancer-predisposing syndrome 2017-06-12 -0.6 0.5 Uncertain significance 0 -456552 Simple 137853287 . . Pathogenic 2 2 Wilson disease 2016-11-03 10.2 2.5 Pathogenic/Likely pathogenic 1 -456560 Simple . A . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 -6.0 0.5 Likely benign 0 -456571 Simple . . . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-09-05 -0.6 0.0 Uncertain significance 0 -456574 Simple 746582207 T . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-01-30 -0.6 1.0 Uncertain significance 0 -456581 Simple 774753107 C . Likely benign 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Hereditary cancer-predisposing syndrome 2017-06-20 -6.0 0.5 Likely benign 0 -456598 Simple . T . Uncertain significance 2 2 Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome 2017-05-10 -0.6 0.0 Uncertain significance 0 -456753 Simple 72653147 A . Pathogenic 2 2 Osteogenesis imperfecta type I;not provided 2017-12-22 12.0 0.5 Pathogenic/Likely pathogenic 1 -456763 Simple 144059610 . . Likely benign 2 3 Osteogenesis imperfecta type I;not specified;not provided 2017-06-21 -8.7 0.6666666666666666 Benign/Likely benign 1 -457038 Simple 201071074 T . Uncertain significance 2 2 Cardiac arrhythmia, ankyrin B-related;Long QT syndrome 2017-08-01 -0.6 0.0 Uncertain significance 0 -457253 Simple 759696323 T . Uncertain significance 2 2 Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic Aneurysm and dissection (TAAD) 2017-08-01 -0.6 0.0 Uncertain significance 0 -457277 Simple 760183888 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-15 -6.0 0.5 Likely benign 0 -457295 Simple 755734265 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-05-17 -6.0 0.5 Likely benign 0 -457308 Simple 1055457298 T . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-09-25 -6.0 0.0 Likely benign 0 -457309 Simple . A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-06-21 -6.0 0.5 Likely benign 0 -457341 Simple 542321016 A . Likely benign 2 2 Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome 2017-06-09 -6.0 0.5 Likely benign 0 -457370 Simple 769385714 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-03-01 -6.0 1.0 Likely benign 0 -457382 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -457383 Simple 786203901 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -457384 Simple 771046832 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-08 -0.6 1.0 Uncertain significance 0 -457387 Simple 749083001 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-03-08 -0.6 0.5 Uncertain significance 0 -457389 Simple . A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -457396 Simple 148531034 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.0 Uncertain significance 0 -457397 Simple 1012689439 C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-03 -6.0 0.5 Likely benign 0 -457398 Simple 772468452 T . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-06-05 12.0 0.5 Pathogenic/Likely pathogenic 1 -457399 Simple 765484171 T . Likely pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-04-27 6.0 0.5 Likely pathogenic 0 -457404 Simple 781305309 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-11-20 -0.6 0.0 Uncertain significance 0 -457408 Simple 1040611482 G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-08-04 -6.0 0.0 Likely benign 0 -457409 Simple . G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-02-06 -6.0 1.0 Likely benign 0 -457411 Simple . T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-27 -5.7 1.0 Likely benign 0 -457414 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-25 -0.6 1.0 Uncertain significance 0 -457418 Simple 876658662 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-19 -0.6 1.0 Uncertain significance 0 -457422 Simple 746546513 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-02-24 -6.0 1.0 Likely benign 0 -457423 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.0 Uncertain significance 0 -457424 Simple . - . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-21 -0.6 0.5 Uncertain significance 0 -457426 Simple 750907713 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-16 -0.6 0.5 Uncertain significance 0 -457427 Simple . C . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-08-11 -5.7 1.0 Likely benign 0 -457433 Simple . - . Pathogenic 2 2 Hereditary cancer-predisposing syndrome 2017-03-30 12.0 0.5 Pathogenic/Likely pathogenic 1 -457437 Simple 780264599 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-10 -0.6 0.5 Uncertain significance 0 -457438 Simple . G . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-24 -6.0 0.5 Likely benign 0 -457442 Simple 756702059 G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-21 -0.6 0.5 Uncertain significance 0 -457447 Simple 764770735 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -457449 Simple 748377319 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-24 -0.6 1.0 Uncertain significance 0 -457453 Simple 759753449 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -457454 Simple 755022536 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -457456 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-01-24 -0.6 1.0 Uncertain significance 0 -457457 Simple . T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-02-16 -5.7 1.5 Likely benign 0 -457458 Simple 925410997 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-13 -6.0 0.5 Likely benign 0 -457464 Simple . A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-09-28 -0.6 0.5 Uncertain significance 0 -457465 Simple 139099583 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-06-19 -6.0 0.5 Likely benign 0 -457467 Simple . T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-08-24 -6.0 0.0 Likely benign 0 -457472 Simple . T . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-05-07 -6.0 0.5 Likely benign 0 -457480 Simple 764784659 A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-04-14 -0.6 0.5 Uncertain significance 0 -457484 Simple . A . Likely benign 2 2 Hereditary cancer-predisposing syndrome 2017-07-12 -5.7 1.0 Likely benign 0 -457490 Simple . A . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-05-17 -0.6 0.5 Uncertain significance 0 -457492 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.5 Uncertain significance 0 -457493 Simple . T . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.5 Uncertain significance 0 -457494 Simple . G . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome 2017-02-06 -0.6 1.0 Uncertain significance 0 -457510 Simple 758212945 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-04 -0.6 0.5 Uncertain significance 0 -457513 Simple 370026303 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-13 -5.7 1.0 Likely benign 0 -457515 Simple . T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.5 Uncertain significance 0 -457523 Simple . C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -457529 Simple . T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -457530 Simple . G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-10 -6.0 0.0 Likely benign 0 -457547 Simple 546729596 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-29 -0.6 0.5 Uncertain significance 0 -457548 Simple 754295034 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.5 Uncertain significance 0 -457551 Simple . T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-13 -6.0 0.5 Likely benign 0 -457563 Simple . G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-31 -0.6 0.5 Uncertain significance 0 -457565 Simple . T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.0 Uncertain significance 0 -457568 Simple 778033578 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-09 -0.6 0.5 Uncertain significance 0 -457578 Simple . C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-01 -0.6 1.0 Uncertain significance 0 -457582 Simple 4795581 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.0 Uncertain significance 0 -457583 Simple 763688567 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-14 -0.6 0.0 Uncertain significance 0 -457592 Simple 761499485 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-11 -5.7 1.0 Likely benign 0 -457594 Simple 372049168 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-19 -0.5700000000000001 1.0 Uncertain significance 0 -457614 Simple 754414489 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-24 -0.5700000000000001 1.5 Uncertain significance 0 -457616 Simple 367684252 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.0 Uncertain significance 0 -457618 Simple 756370324 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-10 -0.6 0.5 Uncertain significance 0 -457637 Simple 769941435 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -457642 Simple 751571517 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-01 -0.6 1.0 Uncertain significance 0 -457644 Simple 902739109 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.0 Uncertain significance 0 -457645 Simple . G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-11 -6.0 0.0 Likely benign 0 -457665 Simple . T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -457666 Simple . G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-18 -0.5700000000000001 1.0 Uncertain significance 0 -457667 Simple . G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-11 -0.6 1.0 Uncertain significance 0 -457668 Simple . C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -457669 Simple 746583007 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-11-03 -0.6 0.5 Uncertain significance 0 -457671 Simple . C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-09-18 -0.6 0.0 Uncertain significance 0 -457673 Simple 876660277 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.5 Uncertain significance 0 -457676 Simple . T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-11 -0.6 0.5 Uncertain significance 0 -457678 Simple . AA . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-02 -0.5700000000000001 1.0 Uncertain significance 0 -457679 Simple . A . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-23 9.0 0.5 Pathogenic/Likely pathogenic 0 -457681 Simple 768223279 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.5 Uncertain significance 0 -457684 Simple . C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-06 -0.6 0.5 Uncertain significance 0 -457690 Simple 373086572 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-08 -5.7 1.0 Likely benign 0 -457696 Simple 199474755 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.0 Uncertain significance 0 -457700 Simple . C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-28 -6.0 0.5 Likely benign 0 -457712 Simple . A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-17 -6.0 0.5 Likely benign 0 -457714 Simple 755890242 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.5 Uncertain significance 0 -457716 Simple 767438491 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-10 -0.6 1.0 Uncertain significance 0 -457727 Simple . G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.5 Uncertain significance 0 -457733 Simple 876660009 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.5 Uncertain significance 0 -457735 Simple . A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-02 -0.5700000000000001 1.5 Uncertain significance 0 -457736 Simple . G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-17 -0.6 0.5 Uncertain significance 0 -457744 Simple 780529277 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-03 -0.6 1.0 Uncertain significance 0 -457749 Simple . A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -457750 Simple . G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-07 -0.6 0.5 Uncertain significance 0 -457753 Simple 370858405 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -457760 Simple . T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-17 -6.0 1.0 Likely benign 0 -457771 Simple 369043956 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-04 -6.0 0.5 Likely benign 0 -457772 Simple . G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-05 -6.0 0.5 Likely benign 0 -457777 Simple 879413062 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-02-07 -0.6 1.0 Uncertain significance 0 -457782 Simple 1131691100 G . Pathogenic/Likely pathogenic 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-26 9.0 0.0 Pathogenic/Likely pathogenic 0 -457788 Simple 755791578 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-13 -0.5700000000000001 1.0 Uncertain significance 0 -457790 Simple 780230966 C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-01-31 -6.0 1.0 Likely benign 0 -457802 Simple 1024484381 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.5 Uncertain significance 0 -457812 Simple 751893971 G . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-05-31 -6.0 0.5 Likely benign 0 -457817 Simple 864622065 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.5 Uncertain significance 0 -457822 Simple . C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-03 -5.7 1.0 Likely benign 0 -457826 Simple 771706364 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.0 Uncertain significance 0 -457831 Simple . G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-13 -0.6 0.0 Uncertain significance 0 -457835 Simple . A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -457840 Simple 151211377 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -457842 Simple 770532573 T . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.0 Uncertain significance 0 -457844 Simple . C . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-06-26 -6.0 0.5 Likely benign 0 -457850 Simple 760733171 T . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-11 -6.0 0.5 Likely benign 0 -457854 Simple 760531845 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.5 Uncertain significance 0 -457855 Simple 776602307 G . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-10-18 -0.6 0.5 Uncertain significance 0 -457856 Simple 752218441 A . Likely benign 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-08-01 -6.0 0.5 Likely benign 0 -457872 Simple 934837854 A . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-07-16 -0.6 0.5 Uncertain significance 0 -457874 Simple 754915138 C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -457875 Simple . C . Uncertain significance 2 2 Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -457890 Simple 757322524 C . Likely benign 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-09-13 -6.0 0.0 Likely benign 0 -457905 Simple 368773485 A . Uncertain significance 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-05-18 -0.6 0.5 Uncertain significance 0 -457918 Simple 774973059 A . Likely benign 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-06-20 -6.0 0.0 Likely benign 0 -457928 Simple 151198477 C . Likely benign 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-08-08 -6.0 0.0 Likely benign 0 -457931 Simple 200272173 C . Likely benign 2 2 Neurofibromatosis, type 2;Hereditary cancer-predisposing syndrome 2017-05-25 -6.0 0.0 Likely benign 0 -458010 Simple . T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -8.7 1.0 Benign/Likely benign 1 -458020 Simple 768780695 C . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -0.5700000000000001 1.0 Uncertain significance 0 -458028 Simple 775978755 A . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-03-14 -0.6 0.5 Uncertain significance 0 -458030 Simple . AT . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-11 -0.6 0.5 Uncertain significance 0 -458031 Simple . T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -6.0 0.5 Likely benign 0 -458032 Simple 754853898 T . Uncertain significance 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-26 -0.6 0.0 Uncertain significance 0 -458042 Simple 757021648 A . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-13 -6.0 0.0 Likely benign 0 -458053 Simple . T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-08-02 -6.0 0.0 Likely benign 0 -458058 Simple . A . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-04-12 -6.0 0.5 Likely benign 0 -458061 Simple 759546076 T . Likely benign 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -8.7 0.6666666666666666 Benign/Likely benign 1 -458064 Simple 539772540 T . Likely benign 2 2 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-03-07 -6.0 0.5 Likely benign 0 -458073 Simple . A . Uncertain significance 2 3 Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome 2017-10-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -458149 Simple 375751988 G . Benign/Likely benign 2 2 Retinoblastoma;Hereditary cancer-predisposing syndrome 2017-05-25 -9.0 0.0 Benign/Likely benign 0 -458346 Simple 267606783 C . Pathogenic 2 2 Osler hemorrhagic telangiectasia syndrome;not provided 2017-06-20 12.0 0.0 Pathogenic/Likely pathogenic 1 -458526 Simple . C . Likely benign 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -9.0 0.3333333333333333 Benign/Likely benign 1 -458528 Simple 753085009 T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.5 Uncertain significance 0 -458529 Simple 754312472 . . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -458543 Simple 863224683 C . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-06 -0.6 0.0 Uncertain significance 0 -458546 Simple 749309577 C . Uncertain significance 2 2 Li-Fraumeni syndrome;not specified 2017-09-26 -0.6 0.0 Uncertain significance 0 -458552 Simple . G . Likely benign 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-09-14 -9.0 0.3333333333333333 Benign/Likely benign 1 -458556 Simple 970212462 A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -458565 Simple . T . Pathogenic/Likely pathogenic 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-08-14 9.0 0.0 Pathogenic/Likely pathogenic 0 -458568 Simple . T . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.5 Uncertain significance 0 -458571 Simple . A . Uncertain significance 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-09-08 -0.8999999999999999 0.0 Uncertain significance 0 -458574 Simple 1048095040 T . Uncertain significance 2 3 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-04-19 -0.87 0.6666666666666666 Uncertain significance 0 -458575 Simple . A . Uncertain significance 2 2 Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.5 Uncertain significance 0 -459138 Simple . C . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.5 Uncertain significance 0 -459156 Simple 202098600 A . Likely benign 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-07-31 -6.0 0.0 Likely benign 0 -459169 Simple 200896502 C . Uncertain significance 2 2 Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.0 Uncertain significance 0 -459627 Simple 367543270 TAG . Pathogenic 2 2 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-06-27 10.2 2.0 Pathogenic/Likely pathogenic 1 -459918 Simple 11913840 T . Benign 2 2 Proline dehydrogenase deficiency;Schizophrenia 4 2017-08-04 -12.0 0.5 Benign/Likely benign 1 -460335 Simple 750535216 T . Benign/Likely benign 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-11-24 -9.0 0.0 Benign/Likely benign 0 -460349 Simple 983362570 T . Likely benign 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-08-31 -6.0 0.0 Likely benign 0 -460350 Simple 142283468 T . Likely benign 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-06-30 -5.4 1.5 Likely benign 0 -460355 Simple . C . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -460363 Simple . T . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.5 Uncertain significance 0 -460375 Simple 199971078 C . Pathogenic 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-05-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -460378 Simple 202060616 C . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-09-05 -0.6 0.0 Uncertain significance 0 -460382 Simple 147991516 G . Uncertain significance 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-04-11 -0.6 0.5 Uncertain significance 0 -460383 Simple 146751488 A . Likely benign 2 2 Fumarase deficiency;Hereditary cancer-predisposing syndrome 2017-02-08 -6.0 1.0 Likely benign 0 -460474 Simple 879254049 T . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-10 -0.6 0.5 Uncertain significance 0 -460476 Simple 757333646 T . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-10 -9.0 0.3333333333333333 Benign/Likely benign 1 -460482 Simple 764090248 G . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-01-21 -9.0 1.0 Benign/Likely benign 1 -460487 Simple 767763451 T . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -460493 Simple 953797046 T . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -460503 Simple 752388441 G . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-02-22 -6.0 1.0 Likely benign 0 -460511 Simple 750513716 T . Uncertain significance 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -460519 Simple 748515167 G . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -460530 Simple 147621330 C . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-06-09 -0.6 0.5 Uncertain significance 0 -460532 Simple . - . Pathogenic 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 12.0 0.5 Pathogenic/Likely pathogenic 1 -460533 Simple . G . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-03-01 -6.0 1.0 Likely benign 0 -460548 Simple . A . Likely benign 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-04-03 -5.7 1.0 Likely benign 0 -460549 Simple . A . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-02-21 -0.6 1.0 Uncertain significance 0 -460561 Simple 757977781 G . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.5 Uncertain significance 0 -460565 Simple . T . Uncertain significance 2 2 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-01-26 -0.6 1.0 Uncertain significance 0 -460569 Simple 778465458 G . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-05-22 -8.4 1.0 Benign/Likely benign 1 -460571 Simple 141149381 G . Likely benign 2 3 Juvenile polyposis syndrome;Hereditary cancer-predisposing syndrome 2017-09-07 -8.7 0.6666666666666666 Benign/Likely benign 1 -460579 Simple . A . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-05-11 -0.6 0.5 Uncertain significance 0 -460581 Simple 769489773 T . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-05-16 -0.5700000000000001 1.0 Uncertain significance 0 -460588 Simple 199889477 C . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -460603 Simple 777826268 T . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -460609 Simple 770311645 T . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-05-01 -6.0 0.0 Likely benign 0 -460610 Simple . A . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.0 Uncertain significance 0 -460612 Simple 773946854 A . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-05-26 -6.0 0.5 Likely benign 0 -460621 Simple . T . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-02-14 -0.6 1.0 Uncertain significance 0 -460622 Simple 774491699 T . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.5 Uncertain significance 0 -460635 Simple 146801028 T . Likely benign 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-06-16 -6.0 0.0 Likely benign 0 -460641 Simple 140246224 A . Uncertain significance 2 2 Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome 2017-05-27 -0.6 0.5 Uncertain significance 0 -460706 Simple . T . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-15 11.4 1.0 Pathogenic/Likely pathogenic 1 -460709 Simple 775002804 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.5 Uncertain significance 0 -460711 Simple . C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -460715 Simple 1039799564 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-22 -0.6 0.5 Uncertain significance 0 -460725 Simple 764418221 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-09 -0.5700000000000001 1.0 Uncertain significance 0 -460726 Simple . C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -460729 Simple 747446711 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.0 Uncertain significance 0 -460731 Simple 876660360 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.0 Uncertain significance 0 -460735 Simple 771766430 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-18 -0.6 0.5 Uncertain significance 0 -460739 Simple . G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-01-20 -0.6 1.0 Uncertain significance 0 -460744 Simple 977731407 C . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-04 -8.7 0.6666666666666666 Benign/Likely benign 1 -460753 Simple . T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-02 -6.0 1.0 Likely benign 0 -460755 Simple 587780032 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-01 -0.6 0.0 Uncertain significance 0 -460756 Simple 927697548 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -460758 Simple 142086060 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -460762 Simple 774675180 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-08 -9.0 0.6666666666666666 Benign/Likely benign 1 -460763 Simple . - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -460764 Simple 989352819 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-31 -0.6 0.5 Uncertain significance 0 -460771 Simple . A . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-03 6.0 0.5 Likely pathogenic 0 -460772 Simple 938389349 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-12 -6.0 0.5 Likely benign 0 -460783 Simple 1060502716 G . Likely pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-02 6.0 0.5 Likely pathogenic 0 -460787 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-28 -0.6 0.5 Uncertain significance 0 -460788 Simple 771387164 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.5 Uncertain significance 0 -460793 Simple . C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-16 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -460795 Simple . C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-23 -0.6 1.0 Uncertain significance 0 -460806 Simple . A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-10 -0.5700000000000001 1.0 Uncertain significance 0 -460817 Simple 766416564 - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-02 12.0 1.0 Pathogenic/Likely pathogenic 1 -460823 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.0 Uncertain significance 0 -460839 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-09 -0.6 0.5 Uncertain significance 0 -460842 Simple 757812205 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-29 -0.6 0.5 Uncertain significance 0 -460843 Simple . G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-11-02 -0.6 0.0 Uncertain significance 0 -460846 Simple . - . Pathogenic 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-19 18.0 0.3333333333333333 Pathogenic 0 -460852 Simple 779322187 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-07 -0.6 0.0 Uncertain significance 0 -460868 Simple . G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-21 -6.0 0.5 Likely benign 0 -460871 Simple . - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-09 12.0 0.5 Pathogenic/Likely pathogenic 1 -460875 Simple . C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-12-04 -0.6 0.0 Uncertain significance 0 -460877 Simple . G . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-07 -6.0 1.0 Likely benign 0 -460878 Simple 200048921 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-09 -0.6 1.0 Uncertain significance 0 -460886 Simple . T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-14 -6.0 0.5 Likely benign 0 -460887 Simple . C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -460892 Simple 780026905 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-28 -6.0 0.5 Likely benign 0 -460897 Simple . - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-17 11.4 1.0 Pathogenic/Likely pathogenic 1 -460917 Simple 587782462 T . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-02 -9.0 0.6666666666666666 Benign/Likely benign 1 -460924 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-15 -0.6 0.5 Uncertain significance 0 -460929 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-19 -0.5700000000000001 1.0 Uncertain significance 0 -460932 Simple . A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.0 Uncertain significance 0 -460937 Simple 562168734 G . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-23 -8.7 1.0 Benign/Likely benign 1 -460949 Simple 376641234 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-06 -0.6 0.5 Uncertain significance 0 -460951 Simple 766315705 T . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-26 -0.87 1.0 Uncertain significance 0 -460960 Simple . A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-12-04 -0.8999999999999999 0.0 Uncertain significance 0 -460961 Simple 778602038 C . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -460972 Simple 875989792 . . Pathogenic/Likely pathogenic 2 2 Familial cancer of breast 2017-04-16 8.7 1.0 Pathogenic/Likely pathogenic 0 -460975 Simple . G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-03 -0.6 1.0 Uncertain significance 0 -460977 Simple 587780216 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-22 -0.87 0.6666666666666666 Uncertain significance 0 -460978 Simple . - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-09-07 12.0 0.0 Pathogenic/Likely pathogenic 1 -460980 Simple . G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-05 -0.6 0.0 Uncertain significance 0 -460983 Simple 772714719 T . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-08-17 -6.0 0.0 Likely benign 0 -460984 Simple 769342316 A . Uncertain significance 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-26 -0.87 1.0 Uncertain significance 0 -460988 Simple 1060502798 T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.0 Uncertain significance 0 -460996 Simple 587782050 A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.0 Uncertain significance 0 -460998 Simple . C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -461000 Simple 531307676 C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-02 -6.0 0.5 Likely benign 0 -461004 Simple . . . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-06 12.0 1.0 Pathogenic/Likely pathogenic 1 -461009 Simple . C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-02-21 -5.7 1.5 Likely benign 0 -461011 Simple 767775306 A . Likely benign 2 3 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-11 -9.0 0.6666666666666666 Benign/Likely benign 1 -461014 Simple . C . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-19 -6.0 0.5 Likely benign 0 -461015 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.0 Uncertain significance 0 -461024 Simple 911713488 A . Likely benign 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-26 -5.7 1.0 Likely benign 0 -461026 Simple . A . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-20 -0.6 0.0 Uncertain significance 0 -461031 Simple 1060499831 C . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-04-28 -0.6 0.5 Uncertain significance 0 -461033 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-06-08 -0.5700000000000001 1.0 Uncertain significance 0 -461037 Simple 377149139 G . Uncertain significance 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-05-12 -0.6 0.0 Uncertain significance 0 -461047 Simple . - . Pathogenic 2 2 Familial cancer of breast;Hereditary cancer-predisposing syndrome 2017-03-10 12.0 0.5 Pathogenic/Likely pathogenic 1 -461055 Simple 777653224 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-09-14 -0.87 0.6666666666666666 Uncertain significance 0 -461060 Simple 786202637 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-09 -0.6 0.0 Uncertain significance 0 -461070 Simple 200581792 A . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-13 -6.0 0.0 Likely benign 0 -461074 Simple . A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-26 -0.6 0.5 Uncertain significance 0 -461078 Simple 754929230 T . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-12-04 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -461090 Simple 764585550 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-25 -0.6 0.5 Uncertain significance 0 -461096 Simple 760515227 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -461098 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -461100 Simple . C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-04 -0.6 0.0 Uncertain significance 0 -461103 Simple . T . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-04 -9.0 0.0 Benign/Likely benign 1 -461105 Simple 876659615 G . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.0 Likely benign 0 -461115 Simple . G . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-08-04 -6.0 0.5 Likely benign 0 -461116 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-22 -0.5700000000000001 1.5 Uncertain significance 0 -461119 Simple 149529390 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-07 -0.6 0.5 Uncertain significance 0 -461120 Simple 758444508 C . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -461129 Simple 367728797 A . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-20 -8.7 1.0 Benign/Likely benign 1 -461130 Simple . C . Likely benign 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-10 -9.0 0.6666666666666666 Benign/Likely benign 1 -461131 Simple 373835270 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.5 Uncertain significance 0 -461134 Simple . A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-17 -0.5700000000000001 1.0 Uncertain significance 0 -461136 Simple . G . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-02 -6.0 0.5 Likely benign 0 -461139 Simple . T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-13 -0.6 0.5 Uncertain significance 0 -461140 Simple 149016505 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-24 -0.6 0.5 Uncertain significance 0 -461148 Simple 786202549 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.5 Uncertain significance 0 -461149 Simple 778480809 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.0 Uncertain significance 0 -461155 Simple 752850661 A . Uncertain significance 2 3 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-08-17 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -461157 Simple 889877039 C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-06-20 -0.6 0.0 Uncertain significance 0 -461162 Simple . . . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -461165 Simple . . . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-15 -0.6 0.5 Uncertain significance 0 -461169 Simple 764256720 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-01-05 -0.5700000000000001 1.5 Uncertain significance 0 -461171 Simple 758218234 A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.5 Uncertain significance 0 -461172 Simple . A . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-02-08 -0.6 1.0 Uncertain significance 0 -461178 Simple 772957320 A . Likely benign 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-04-03 -5.7 1.0 Likely benign 0 -461181 Simple . C . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-03-29 -0.5700000000000001 1.0 Uncertain significance 0 -461184 Simple 758360637 T . Uncertain significance 2 2 Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome 2017-05-15 -0.6 0.5 Uncertain significance 0 -461262 Simple . G . Pathogenic/Likely pathogenic 2 2 not provided;Early infantile epileptic encephalopathy 2017-11-01 9.0 0.5 Pathogenic/Likely pathogenic 0 -461489 Simple . A . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-03-20 -0.6 0.5 Uncertain significance 0 -461491 Simple 772909239 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -461493 Simple 748090667 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-02-03 -0.6 1.0 Uncertain significance 0 -461499 Simple . A . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-09-01 -0.6 0.0 Uncertain significance 0 -461508 Simple 367760321 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-11-29 -0.8999999999999999 0.0 Uncertain significance 0 -461510 Simple . T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.0 Uncertain significance 0 -461513 Simple 944499155 C . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-08-10 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -461514 Simple . C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-09 -0.6 0.5 Uncertain significance 0 -461518 Simple 876659451 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.0 Uncertain significance 0 -461530 Simple . T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-26 -0.6 0.5 Uncertain significance 0 -461536 Simple 370295427 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.0 Uncertain significance 0 -461541 Simple 753270166 T . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -461547 Simple 767523514 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.0 Uncertain significance 0 -461549 Simple 766237464 C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -461568 Simple 776810966 T . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -461569 Simple 764290829 C . Likely benign 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-02-14 -9.0 1.0 Benign/Likely benign 1 -461575 Simple 951997505 A . Uncertain significance 2 3 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-02-27 -0.8999999999999999 1.0 Uncertain significance 0 -461578 Simple 786203253 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-01-11 -0.6 1.0 Uncertain significance 0 -461590 Simple . C . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.5 Uncertain significance 0 -461596 Simple 778254433 G . Uncertain significance 2 2 Microcephaly, normal intelligence and immunodeficiency;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -462227 Simple 1052409595 G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.5 Likely benign 0 -462230 Simple 786201783 T . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-26 -6.0 0.5 Likely benign 0 -462242 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.5 Uncertain significance 0 -462243 Simple . G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-31 -6.0 0.5 Likely benign 0 -462255 Simple 868546240 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-08 -0.6 1.0 Uncertain significance 0 -462273 Simple 55736268 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.5 Uncertain significance 0 -462280 Simple 755777807 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-06 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -462283 Simple 757213764 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-03-02 -0.5700000000000001 1.5 Uncertain significance 0 -462289 Simple . G . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-10 12.0 0.0 Pathogenic/Likely pathogenic 1 -462294 Simple 80358598 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.5 Uncertain significance 0 -462325 Simple 945880747 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.5 Uncertain significance 0 -462329 Simple . G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -462331 Simple . G . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-18 -5.7 1.0 Likely benign 0 -462341 Simple . C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-06 -6.0 0.0 Likely benign 0 -462348 Simple 80359788 G . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -462356 Simple . T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-20 -0.8999999999999999 0.0 Uncertain significance 0 -462363 Simple 777981245 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -462375 Simple . C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-28 -0.5700000000000001 1.5 Uncertain significance 0 -462379 Simple . T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-11 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -462384 Simple . T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-19 -0.6 0.0 Uncertain significance 0 -462385 Simple . T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-26 -0.6 0.0 Uncertain significance 0 -462394 Simple 55877890 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-18 -0.6 0.5 Uncertain significance 0 -462395 Simple . C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-04-15 -6.0 0.5 Likely benign 0 -462400 Simple . C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -462401 Simple 397507838 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-09 -0.5700000000000001 1.0 Uncertain significance 0 -462407 Simple . - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-13 12.0 0.5 Pathogenic/Likely pathogenic 1 -462409 Simple . C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -6.0 0.5 Likely benign 0 -462410 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-30 -0.6 0.5 Uncertain significance 0 -462446 Simple . . . Pathogenic 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 18.0 0.3333333333333333 Pathogenic 0 -462473 Simple 28897705 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -6.0 0.5 Likely benign 0 -462483 Simple 80359110 T . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-15 12.0 1.0 Pathogenic/Likely pathogenic 1 -462490 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-28 -0.6 0.0 Uncertain significance 0 -462502 Simple 767481384 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-09-19 -0.6 0.0 Uncertain significance 0 -462507 Simple . - . Pathogenic 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 11.4 1.0 Pathogenic/Likely pathogenic 1 -462508 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-22 -0.6 0.5 Uncertain significance 0 -462518 Simple . - . Likely pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome 2017-03-07 6.0 0.5 Likely pathogenic 0 -462522 Simple 747073940 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -462537 Simple 995227933 C . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-27 -6.0 0.5 Likely benign 0 -462588 Simple . C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-07 -0.6 1.0 Uncertain significance 0 -462590 Simple 556684572 G . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-06 -8.7 1.0 Benign/Likely benign 1 -462591 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.0 Uncertain significance 0 -462610 Simple 771479616 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.5 Uncertain significance 0 -462615 Simple . T . Likely benign 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 -6.0 0.5 Likely benign 0 -462618 Simple . G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -462629 Simple 80357345 C . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-21 -0.6 1.0 Uncertain significance 0 -462642 Simple 747364414 T . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-07 -0.6 0.5 Uncertain significance 0 -462643 Simple 748839289 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-01-23 -0.6 1.0 Uncertain significance 0 -462647 Simple 730881449 - . Benign/Likely benign 2 3 Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-07 -12.9 2.0 Benign/Likely benign 0 -462658 Simple 397509218 G . Likely benign 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-02 -8.7 1.0 Benign/Likely benign 1 -462680 Simple . A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -462682 Simple 786203797 A . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.5 Uncertain significance 0 -462686 Simple 1030987340 G . Uncertain significance 2 2 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-02-10 -0.6 1.0 Uncertain significance 0 -462691 Simple 886040330 T . Uncertain significance 2 3 Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome 2017-10-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -463258 Simple 756253735 T . Uncertain significance 2 2 Brugada syndrome;not specified 2017-05-01 -0.6 0.5 Uncertain significance 0 -463415 Simple 767262463 G . Likely benign 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-08-31 -6.0 0.0 Likely benign 0 -463421 Simple 751165188 C . Uncertain significance 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-08-31 -0.6 0.0 Uncertain significance 0 -463422 Simple 201976136 T . Likely benign 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-06-23 -6.0 0.5 Likely benign 0 -463424 Simple . C . Uncertain significance 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.0 Uncertain significance 0 -463430 Simple 201484943 A . Likely benign 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-04-21 -6.0 0.5 Likely benign 0 -463437 Simple . T . Uncertain significance 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-03-31 -0.6 0.5 Uncertain significance 0 -463438 Simple 201577008 T . Uncertain significance 2 2 Meningioma, familial;Hereditary cancer-predisposing syndrome 2017-07-21 -0.6 0.0 Uncertain significance 0 -463469 Simple . A . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-03-30 -6.0 0.5 Likely benign 0 -463472 Simple 754423955 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.0 Uncertain significance 0 -463473 Simple 373619077 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-04-25 -0.6 0.5 Uncertain significance 0 -463486 Simple 201314211 G . Uncertain significance 2 3 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-06 -0.8999999999999999 0.0 Uncertain significance 0 -463491 Simple . G . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -463511 Simple . A . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-27 -6.0 0.0 Likely benign 0 -463514 Simple 748327367 T . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-07-20 -0.6 0.5 Uncertain significance 0 -463516 Simple . A . Likely benign 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-30 -6.0 0.5 Likely benign 0 -463519 Simple . A . Uncertain significance 2 2 Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome 2017-06-25 -0.5700000000000001 1.0 Uncertain significance 0 -463698 Simple 537703872 A . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-02 -5.7 1.0 Likely benign 0 -463704 Simple . - . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-28 -0.6 0.0 Uncertain significance 0 -463705 Simple . C . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-24 -6.0 0.5 Likely benign 0 -463715 Simple . T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-08-16 -0.6 0.0 Uncertain significance 0 -463717 Simple . G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -463719 Simple . A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-10 -0.6 0.5 Uncertain significance 0 -463722 Simple . TT . Pathogenic/Likely pathogenic 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-07-26 9.0 0.5 Pathogenic/Likely pathogenic 0 -463730 Simple 755622441 T . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-19 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -463732 Simple 33935154 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-06 -0.6 1.0 Uncertain significance 0 -463737 Simple . T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-09-25 -0.6 0.0 Uncertain significance 0 -463739 Simple 769844369 A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-12 -0.6 0.5 Uncertain significance 0 -463745 Simple . T . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-05-10 -6.0 0.5 Likely benign 0 -463746 Simple 745717070 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-04 -0.6 1.0 Uncertain significance 0 -463748 Simple 773795943 T . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.5 Uncertain significance 0 -463749 Simple 761562625 A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-14 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -463751 Simple 772531531 C . Likely benign 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-06 -6.0 0.5 Likely benign 0 -463752 Simple . A . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-02-13 -0.6 1.0 Uncertain significance 0 -463768 Simple . G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-18 -0.6 0.5 Uncertain significance 0 -463769 Simple . G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-10-02 -0.6 0.0 Uncertain significance 0 -463787 Simple . A . Uncertain significance 2 3 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-13 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -463796 Simple 761182866 G . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-04-29 -0.6 0.5 Uncertain significance 0 -463797 Simple . C . Uncertain significance 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.5 Uncertain significance 0 -463807 Simple 80206158 C . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-03-29 -0.6 0.0 Uncertain significance 0 -463810 Simple 140490467 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -463812 Simple . C . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-05-18 -6.0 0.0 Likely benign 0 -463825 Simple 148425779 T . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-12-01 -6.0 0.0 Likely benign 0 -463830 Simple 968303021 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.0 Uncertain significance 0 -463832 Simple 747571875 A . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-06-15 -6.0 0.5 Likely benign 0 -463850 Simple 372120755 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-04-05 -0.6 0.5 Uncertain significance 0 -463851 Simple 758676810 T . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-08-31 -0.6 0.0 Uncertain significance 0 -463853 Simple 762657413 C . Uncertain significance 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-07-11 -0.6 0.5 Uncertain significance 0 -463855 Simple 377760956 T . Likely benign 2 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome 2017-07-24 -6.0 0.5 Likely benign 0 -464321 Simple 992198711 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 1;Hereditary cancer-predisposing syndrome 2017-08-11 -0.6 0.0 Uncertain significance 0 -464353 Simple 374196960 G . Uncertain significance 2 2 Nemaline myopathy 6;not specified 2016-06-28 -0.5700000000000001 1.5 Uncertain significance 0 -464434 Simple 794729136 AGGC . Uncertain significance 2 2 Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified 2017-06-14 -0.6 0.0 Uncertain significance 0 -464680 Simple 369299948 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-10-05 -0.6 0.0 Uncertain significance 0 -464684 Simple 755651654 A . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-09-12 -8.7 0.6666666666666666 Benign/Likely benign 1 -464690 Simple . - . Pathogenic 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-04-21 12.0 0.5 Pathogenic/Likely pathogenic 1 -464693 Simple 786202812 T . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-07-26 -6.0 0.0 Likely benign 0 -464701 Simple 1000260695 A . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-26 -6.0 0.5 Likely benign 0 -464703 Simple . C . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-02-14 -0.5700000000000001 1.5 Uncertain significance 0 -464706 Simple . A . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-17 -6.0 0.0 Likely benign 0 -464709 Simple 755928199 T . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-27 -0.6 0.5 Uncertain significance 0 -464723 Simple 770203030 G . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.0 Uncertain significance 0 -464731 Simple . G . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-09 -6.0 0.0 Likely benign 0 -464735 Simple . G . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-17 -6.0 0.5 Likely benign 0 -464738 Simple 766173546 A . Uncertain significance 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-28 -0.6 0.5 Uncertain significance 0 -464740 Simple . T . Likely benign 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-03-30 -6.0 0.5 Likely benign 0 -464741 Simple 771683103 T . Likely benign 2 3 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-05-02 -8.7 1.0 Benign/Likely benign 1 -464784 Simple 746853821 - . Likely benign 2 2 Androgen resistance syndrome;Bulbo-spinal atrophy X-linked;not provided 2017-10-03 -6.0 0.5 Likely benign 0 -465227 Simple 974401612 A . Likely benign 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-08-03 -6.0 0.0 Likely benign 0 -465228 Simple 148634289 T . Likely benign 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-03-06 -6.0 0.5 Likely benign 0 -465230 Simple . TT . Uncertain significance 2 2 Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Cowden syndrome 3;Hereditary cancer-predisposing syndrome 2017-04-05 -0.6 0.5 Uncertain significance 0 -465852 Simple 752226476 . . Uncertain significance 2 2 Myasthenic syndrome, congenital, 4a, slow-channel;not specified 2017-05-26 -0.5700000000000001 1.0 Uncertain significance 0 -466019 Simple . G . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-26 -5.7 1.0 Likely benign 0 -466024 Simple 199800297 C . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-08-08 -0.6 0.5 Uncertain significance 0 -466050 Simple 372583166 T . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-08-24 -0.6 0.5 Uncertain significance 0 -466065 Simple 765578482 T . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-05 -0.5700000000000001 1.0 Uncertain significance 0 -466072 Simple 776386313 G . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-09 -0.6 0.5 Uncertain significance 0 -466079 Simple . T . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-05-19 -6.0 0.5 Likely benign 0 -466083 Simple . G . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-03-09 -6.0 0.5 Likely benign 0 -466097 Simple . G . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -466123 Simple 755396992 T . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-03-28 -0.5700000000000001 1.0 Uncertain significance 0 -466126 Simple 749995749 A . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-03-22 -6.0 0.0 Likely benign 0 -466128 Simple 762845573 G . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.5 Uncertain significance 0 -466134 Simple . G . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-07-03 -6.0 0.5 Likely benign 0 -466138 Simple . C . Likely benign 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-06-26 -6.0 0.0 Likely benign 0 -466139 Simple 755799702 A . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-07-11 -0.6 0.0 Uncertain significance 0 -466148 Simple . T . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -466161 Simple 752290177 T . Uncertain significance 2 2 Tuberous sclerosis 1;Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -466308 Simple 199730337 . . Benign/Likely benign 2 2 Temtamy syndrome;not specified 2017-08-22 -8.7 1.0 Benign/Likely benign 0 -466440 Simple 776642337 T . Likely benign 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-06-01 -6.0 0.5 Likely benign 0 -466444 Simple 762210984 G . Uncertain significance 2 2 Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome 2017-03-14 -0.6 0.5 Uncertain significance 0 -467746 Simple 768420488 A . Uncertain significance 2 2 Congenital central hypoventilation;Hereditary cancer-predisposing syndrome 2017-06-17 -0.6 0.5 Uncertain significance 0 -467847 Simple 779951754 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-24 -6.0 0.0 Likely benign 0 -467860 Simple 777457815 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-02-21 -0.6 1.0 Uncertain significance 0 -467907 Simple 762331610 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-02-01 -0.6 1.0 Uncertain significance 0 -467917 Simple . TT . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-08-09 -0.6 0.0 Uncertain significance 0 -467936 Simple 397514984 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-03-27 -0.6 0.5 Uncertain significance 0 -467970 Simple . A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -468005 Simple 1053311636 C . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-17 -0.6 0.0 Uncertain significance 0 -468021 Simple 1060500939 T . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-05-25 -0.5700000000000001 1.0 Uncertain significance 0 -468047 Simple 373508609 G . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-26 -6.0 0.5 Likely benign 0 -468057 Simple 760704956 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-03-13 -5.7 1.0 Likely benign 0 -468066 Simple 776129896 T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-02-14 -6.0 1.0 Likely benign 0 -468097 Simple 775919951 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-14 -0.5700000000000001 1.0 Uncertain significance 0 -468098 Simple 764903148 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-20 -0.6 0.5 Uncertain significance 0 -468140 Simple 760978505 T . Benign/Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-19 -8.7 1.0 Benign/Likely benign 0 -468144 Simple . C . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-24 -0.5700000000000001 1.0 Uncertain significance 0 -468145 Simple 753336580 A . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-04-03 -0.6 0.5 Uncertain significance 0 -468152 Simple 150038278 A . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-09 -6.0 0.5 Likely benign 0 -468155 Simple 1051758 G . Uncertain significance 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.5 Uncertain significance 0 -468158 Simple . T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-06-28 -5.7 1.0 Likely benign 0 -468160 Simple 371580877 G . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-08-08 -5.7 1.0 Likely benign 0 -468185 Simple . T . Likely benign 2 2 Tuberous sclerosis 2;Hereditary cancer-predisposing syndrome 2017-09-13 -6.0 0.0 Likely benign 0 -468215 Simple . C . Pathogenic/Likely pathogenic 2 2 Cerebral cavernous malformation;not provided 2016-11-01 9.0 1.0 Pathogenic/Likely pathogenic 0 -468330 Simple . A . Pathogenic 2 2 Cerebral cavernous malformations 3;not provided 2017-06-15 12.0 0.5 Pathogenic/Likely pathogenic 1 -468669 Simple . C . Likely benign 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -6.0 0.5 Likely benign 0 -468670 Simple . G . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-04-04 -0.6 0.5 Uncertain significance 0 -468678 Simple . T . Pathogenic 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-03-08 12.0 0.5 Pathogenic/Likely pathogenic 1 -468697 Simple . A . Likely benign 2 3 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-05-15 -8.7 1.0 Benign/Likely benign 1 -468704 Simple 786204868 T . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.5 Uncertain significance 0 -468719 Simple . G . Uncertain significance 2 2 PTEN hamartoma tumor syndrome;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.0 Uncertain significance 0 -468998 Simple 747582957 T . Likely benign 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-06-13 -6.0 0.0 Likely benign 0 -468999 Simple . T . Likely benign 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-05-25 -6.0 0.0 Likely benign 0 -469000 Simple 760647541 C . Uncertain significance 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-06-29 -0.6 0.0 Uncertain significance 0 -469014 Simple 146217922 T . Uncertain significance 2 2 Multiple endocrine neoplasia, type 4;Hereditary cancer-predisposing syndrome 2017-05-31 -0.6 0.5 Uncertain significance 0 -469056 Simple . T . Likely benign 2 2 Carney complex, type 1;Hereditary cancer-predisposing syndrome 2017-07-05 -6.0 0.0 Likely benign 0 -469058 Simple 755978926 T . Likely benign 2 2 Carney complex, type 1;Hereditary cancer-predisposing syndrome 2017-05-08 -6.0 0.0 Likely benign 0 -469061 Simple 371834376 A . Likely benign 2 2 Carney complex, type 1;Hereditary cancer-predisposing syndrome 2017-08-09 -6.0 0.0 Likely benign 0 -469072 Simple 777110464 T . Likely benign 2 2 Carney complex, type 1;Hereditary cancer-predisposing syndrome 2017-07-20 -6.0 0.0 Likely benign 0 -469182 Simple 750322846 C . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-02 -0.5700000000000001 1.0 Uncertain significance 0 -469183 Simple . A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-02-08 -0.6 1.0 Uncertain significance 0 -469185 Simple . T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-06 -0.6 0.5 Uncertain significance 0 -469189 Simple 199576140 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-30 -0.6 0.5 Uncertain significance 0 -469192 Simple 1004124075 A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-29 -0.6 0.5 Uncertain significance 0 -469202 Simple . G . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-03-12 -0.6 0.5 Uncertain significance 0 -469204 Simple . A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-05-03 -0.6 0.0 Uncertain significance 0 -469206 Simple 201804732 T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-05-22 -0.6 0.5 Uncertain significance 0 -469216 Simple . C . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-05-01 -6.0 0.0 Likely benign 0 -469219 Simple 201261298 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-10 -6.0 0.5 Likely benign 0 -469220 Simple 138293440 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-03 -6.0 0.5 Likely benign 0 -469222 Simple . G . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-01 -6.0 0.0 Likely benign 0 -469238 Simple . A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-21 -5.7 1.0 Likely benign 0 -469247 Simple . T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-10 -6.0 0.5 Likely benign 0 -469251 Simple . A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-05-09 -6.0 0.5 Likely benign 0 -469253 Simple 545962328 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-02-28 -6.0 1.0 Likely benign 0 -469260 Simple 763386334 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-01-17 -5.7 1.5 Likely benign 0 -469268 Simple 746667098 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-21 -6.0 0.0 Likely benign 0 -469271 Simple . T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-25 -5.7 1.0 Likely benign 0 -469279 Simple 766256332 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-14 -5.7 1.0 Likely benign 0 -469285 Simple . - . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-03-23 -0.6 0.5 Uncertain significance 0 -469288 Simple 770882217 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-27 -6.0 0.0 Likely benign 0 -469294 Simple 749435965 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-01 -6.0 0.5 Likely benign 0 -469307 Simple 376743216 T . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-21 -0.6 0.0 Uncertain significance 0 -469310 Simple . T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-06 -6.0 0.0 Likely benign 0 -469336 Simple 753235009 A . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-13 -6.0 0.5 Likely benign 0 -469340 Simple . G . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-09-08 -0.6 0.5 Uncertain significance 0 -469354 Simple 761783892 G . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-13 -5.7 1.0 Likely benign 0 -469356 Simple 369905962 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-14 -5.7 1.0 Likely benign 0 -469370 Simple 200405635 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-01-20 -6.0 1.0 Likely benign 0 -469388 Simple 777427540 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-06-23 -6.0 0.5 Likely benign 0 -469395 Simple . G . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -469398 Simple . A . Uncertain significance 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -469404 Simple 781015976 T . Likely benign 2 2 Colorectal cancer 10;Hereditary cancer-predisposing syndrome 2017-04-19 -6.0 0.5 Likely benign 0 -469699 Simple 947634162 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-01 -0.6 0.5 Uncertain significance 0 -469700 Simple 145912662 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-09 -0.6 0.5 Uncertain significance 0 -469705 Simple 534358523 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-08 -0.6 0.5 Uncertain significance 0 -469719 Simple 372416031 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-27 -0.8999999999999999 0.0 Uncertain significance 0 -469722 Simple . G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-19 -0.5700000000000001 1.0 Uncertain significance 0 -469730 Simple 749130507 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-11 -0.5700000000000001 1.0 Uncertain significance 0 -469740 Simple 148987776 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-30 -9.0 0.0 Benign/Likely benign 1 -469741 Simple 767947015 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-21 -9.0 1.0 Benign/Likely benign 1 -469744 Simple 748075979 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-26 -0.6 0.0 Uncertain significance 0 -469747 Simple 372917037 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-28 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -469749 Simple 749477816 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-15 -8.7 1.0 Benign/Likely benign 1 -469752 Simple 759201675 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-03 -6.0 0.0 Likely benign 0 -469757 Simple 919202692 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-27 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -469763 Simple 121913333 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-12 -5.7 1.0 Likely benign 0 -469770 Simple 767066195 A . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-14 -6.0 0.5 Likely benign 0 -469921 Simple . G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-21 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -469931 Simple 780084585 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-04 -0.6 0.5 Uncertain significance 0 -469932 Simple . A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -469938 Simple 771159136 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-27 -0.6 0.5 Uncertain significance 0 -469941 Simple . - . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-18 -0.6 0.5 Uncertain significance 0 -469951 Simple . G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-05 -0.6 0.0 Uncertain significance 0 -469975 Simple 752627126 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.0 Uncertain significance 0 -469979 Simple . T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-12 -0.6 0.0 Uncertain significance 0 -469988 Simple . C . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-19 -6.0 0.5 Likely benign 0 -470001 Simple 944674770 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-23 -0.6 0.0 Uncertain significance 0 -470002 Simple . C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-03 -0.5700000000000001 1.0 Uncertain significance 0 -470007 Simple . G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-02-09 -0.6 1.0 Uncertain significance 0 -470012 Simple . A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-10 -0.6 0.5 Uncertain significance 0 -470013 Simple 371686531 T . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-14 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -470014 Simple 755764542 T . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-17 -8.7 1.0 Benign/Likely benign 1 -470015 Simple 587779799 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-20 -0.6 1.0 Uncertain significance 0 -470017 Simple 978239155 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-05 -9.0 0.3333333333333333 Benign/Likely benign 1 -470019 Simple . G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.5 Uncertain significance 0 -470026 Simple . - . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-11-03 -0.6 0.0 Uncertain significance 0 -470027 Simple 749833343 G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-29 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -470033 Simple 967247502 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-08 -9.0 0.3333333333333333 Benign/Likely benign 1 -470040 Simple . G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.5 Uncertain significance 0 -470051 Simple 748745776 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-02 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -470066 Simple 876660654 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-04 -0.6 0.5 Uncertain significance 0 -470070 Simple . T . Pathogenic 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-24 12.0 0.5 Pathogenic/Likely pathogenic 1 -470074 Simple 766086022 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.0 Uncertain significance 0 -470075 Simple . T . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-03 -5.7 1.0 Likely benign 0 -470076 Simple 778471612 G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-17 -9.0 0.3333333333333333 Benign/Likely benign 1 -470078 Simple 767691072 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-13 -0.6 0.0 Uncertain significance 0 -470080 Simple 779287035 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-25 -0.6 0.5 Uncertain significance 0 -470086 Simple 760755317 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.5 Uncertain significance 0 -470088 Simple . G . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-09-05 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -470101 Simple . T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-04-07 -0.6 0.0 Uncertain significance 0 -470108 Simple 375393416 C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-18 -0.6 0.0 Uncertain significance 0 -470112 Simple 587778037 A . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-16 -0.6 0.5 Uncertain significance 0 -470121 Simple 756875223 C . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-31 -9.0 0.3333333333333333 Benign/Likely benign 1 -470122 Simple 747759906 A . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-30 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -470124 Simple 756633556 G . Likely benign 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-06-22 -6.0 0.0 Likely benign 0 -470127 Simple 144746572 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.5 Uncertain significance 0 -470130 Simple 760472102 C . Uncertain significance 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-01 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -470131 Simple 76933416 G . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-05-23 -0.6 0.5 Uncertain significance 0 -470135 Simple 757874563 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-08-14 -0.6 0.5 Uncertain significance 0 -470137 Simple . G . Likely benign 2 3 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-07-19 -9.0 0.3333333333333333 Benign/Likely benign 1 -470146 Simple 773513581 T . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-03-01 -0.5700000000000001 1.5 Uncertain significance 0 -470159 Simple . C . Uncertain significance 2 2 Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome 2017-01-20 -0.6 1.0 Uncertain significance 0 -470221 Simple 756474511 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.0 Uncertain significance 0 -470222 Simple 778158927 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-20 -6.0 0.5 Likely benign 0 -470224 Simple 563079629 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-20 -0.6 0.0 Uncertain significance 0 -470227 Simple . T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-20 -0.6 1.0 Uncertain significance 0 -470230 Simple 972341316 T . Pathogenic 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-15 12.0 0.0 Pathogenic/Likely pathogenic 1 -470232 Simple 201099398 G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-04 -5.7 1.0 Likely benign 0 -470234 Simple 763820669 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-03 -5.7 1.0 Likely benign 0 -470235 Simple 200159174 A . Benign/Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-12 -8.7 1.0 Benign/Likely benign 0 -470238 Simple 969090029 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-13 -5.7 1.0 Likely benign 0 -470239 Simple 147558972 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-31 -5.7 1.0 Likely benign 0 -470247 Simple . A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.0 Uncertain significance 0 -470253 Simple 375507937 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-07 -5.7 1.0 Likely benign 0 -470256 Simple . - . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-19 -0.6 0.5 Uncertain significance 0 -470259 Simple 779952581 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-01 -0.6 0.5 Uncertain significance 0 -470260 Simple 777544121 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-03 -0.6 0.5 Uncertain significance 0 -470263 Simple 755935365 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-10-11 -0.6 0.0 Uncertain significance 0 -470269 Simple 548456029 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-27 -5.7 1.0 Likely benign 0 -470270 Simple . A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-24 -6.0 0.5 Likely benign 0 -470272 Simple . G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-25 -6.0 0.5 Likely benign 0 -470273 Simple 761791338 G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-11 -5.7 1.0 Likely benign 0 -470276 Simple 766237791 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.5 Uncertain significance 0 -470278 Simple 751565055 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-03 -0.5700000000000001 1.5 Uncertain significance 0 -470279 Simple . - . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -470280 Simple 767328169 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-07 -0.6 0.5 Uncertain significance 0 -470281 Simple . C . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-04 -0.6 0.5 Uncertain significance 0 -470287 Simple . G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-15 -0.6 1.0 Uncertain significance 0 -470289 Simple 749349816 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-10 -0.6 1.0 Uncertain significance 0 -470305 Simple 144693208 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-23 -6.0 0.5 Likely benign 0 -470308 Simple 368438634 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-26 -5.7 1.5 Likely benign 0 -470310 Simple 751542188 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-18 -0.6 0.0 Uncertain significance 0 -470312 Simple 761698481 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-10 -5.7 1.0 Likely benign 0 -470317 Simple . A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-28 -5.7 1.5 Likely benign 0 -470318 Simple 200258214 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.5 Uncertain significance 0 -470325 Simple . T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-06 -6.0 0.5 Likely benign 0 -470326 Simple 754968214 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-29 -6.0 0.0 Likely benign 0 -470335 Simple . G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-14 -0.6 0.0 Uncertain significance 0 -470336 Simple 770147215 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-10 -0.5700000000000001 1.0 Uncertain significance 0 -470338 Simple 779514603 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-25 -5.7 1.5 Likely benign 0 -470339 Simple . T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-30 -0.6 0.5 Uncertain significance 0 -470344 Simple . G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-20 -6.0 0.5 Likely benign 0 -470350 Simple . G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-25 -0.6 0.5 Uncertain significance 0 -470351 Simple 768127028 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-03 -5.7 1.0 Likely benign 0 -470353 Simple . C . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-13 -0.6 0.5 Uncertain significance 0 -470354 Simple 201875199 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-29 -5.7 1.0 Likely benign 0 -470355 Simple 759594383 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.5 Uncertain significance 0 -470363 Simple 913401320 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-23 -6.0 0.5 Likely benign 0 -470365 Simple 769607050 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-04 -6.0 1.0 Likely benign 0 -470369 Simple 746219091 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-10 -0.6 0.5 Uncertain significance 0 -470371 Simple 370679578 C . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.5 Uncertain significance 0 -470372 Simple 750494195 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-18 -6.0 0.5 Likely benign 0 -470373 Simple 143950084 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-11-28 -0.6 0.0 Uncertain significance 0 -470374 Simple . A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-17 -0.5700000000000001 1.0 Uncertain significance 0 -470376 Simple 747916992 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-15 -5.7 1.0 Likely benign 0 -470379 Simple . G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-24 -0.6 0.5 Uncertain significance 0 -470381 Simple 535299273 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.5 Uncertain significance 0 -470382 Simple 1006792160 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-21 -5.7 1.0 Likely benign 0 -470384 Simple 546563978 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-16 -6.0 0.5 Likely benign 0 -470388 Simple 1000417349 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-23 -0.6 1.0 Uncertain significance 0 -470392 Simple 577059244 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-27 -5.7 1.0 Likely benign 0 -470396 Simple 370380553 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-25 -5.7 1.0 Likely benign 0 -470399 Simple 796506759 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -470403 Simple 755142737 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-23 -5.7 1.0 Likely benign 0 -470406 Simple 372931195 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-26 -5.7 1.0 Likely benign 0 -470407 Simple . A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-27 -0.6 0.0 Uncertain significance 0 -470412 Simple 767810437 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-02 -0.6 1.0 Uncertain significance 0 -470417 Simple 751869068 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-25 -5.7 1.0 Likely benign 0 -470424 Simple 755493468 C . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-11-03 -0.6 0.0 Uncertain significance 0 -470425 Simple . C . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-03 -0.5700000000000001 1.0 Uncertain significance 0 -470428 Simple 374648988 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.0 Uncertain significance 0 -470430 Simple 11537673 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-02-15 -0.6 1.0 Uncertain significance 0 -470432 Simple . - . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-09-05 -0.6 0.0 Uncertain significance 0 -470435 Simple 772894995 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.5 Uncertain significance 0 -470436 Simple . T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-08 -6.0 0.5 Likely benign 0 -470437 Simple 759429379 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-11 -0.6 0.5 Uncertain significance 0 -470439 Simple 572753619 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-06-01 -5.7 1.0 Likely benign 0 -470442 Simple 886937766 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-18 -0.6 0.5 Uncertain significance 0 -470443 Simple 371832808 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-10-13 -0.6 0.0 Uncertain significance 0 -470445 Simple . T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.0 Uncertain significance 0 -470446 Simple 1021610405 G . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-26 -0.6 0.5 Uncertain significance 0 -470449 Simple 372941839 G . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-13 -6.0 0.5 Likely benign 0 -470450 Simple . GGGCCC . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-11 -0.6 0.5 Uncertain significance 0 -470457 Simple 780223957 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-29 -6.0 0.5 Likely benign 0 -470464 Simple 367781236 A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-30 -0.6 0.0 Uncertain significance 0 -470466 Simple 763054014 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-03-27 -0.6 0.0 Uncertain significance 0 -470468 Simple 138097741 T . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-10-18 -0.6 0.0 Uncertain significance 0 -470470 Simple 755971351 T . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-04-18 -5.7 1.0 Likely benign 0 -470471 Simple . A . Uncertain significance 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.0 Uncertain significance 0 -470472 Simple 770128715 A . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-01-24 -5.7 1.5 Likely benign 0 -470473 Simple 770128715 C . Likely benign 2 2 Rhabdoid tumor predisposition syndrome 2;Hereditary cancer-predisposing syndrome 2017-05-25 -6.0 0.5 Likely benign 0 -470825 Simple 140606509 G . Uncertain significance 2 2 Neuroblastoma 3;Hereditary cancer-predisposing syndrome 2017-02-28 -0.6 1.0 Uncertain significance 0 -471371 Simple 3739494 T . Benign 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Walker-Warburg congenital muscular dystrophy 2017-08-09 -12.0 0.0 Benign/Likely benign 1 -471384 Simple 10901065 T . Benign 2 2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Walker-Warburg congenital muscular dystrophy 2017-08-09 -12.0 0.0 Benign/Likely benign 1 -471403 Simple 6659553 T . Benign 2 2 Muscle eye brain disease;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2017-08-08 -12.0 0.0 Benign/Likely benign 1 -471431 Simple . A . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-06-21 -0.6 0.0 Uncertain significance 0 -471432 Simple . C . Likely benign 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-01-19 -5.7 1.5 Likely benign 0 -471436 Simple . G . Likely benign 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-07-21 -6.0 0.0 Likely benign 0 -471440 Simple 1060502595 C . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.0 Uncertain significance 0 -471454 Simple . T . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-05-01 -0.6 0.5 Uncertain significance 0 -472287 Simple . A . Likely pathogenic 2 2 Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-03-27 6.0 0.5 Likely pathogenic 0 -472289 Simple 778207102 T . Pathogenic 2 2 Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-27 12.0 0.5 Pathogenic/Likely pathogenic 1 -472291 Simple . - . Pathogenic 2 2 Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-06-26 12.0 0.5 Pathogenic/Likely pathogenic 1 -472312 Simple 768055345 A . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.0 Uncertain significance 0 -472316 Simple 754805626 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-22 -5.7 1.0 Likely benign 0 -472317 Simple 201822097 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-19 -0.6 0.0 Uncertain significance 0 -472323 Simple 201139275 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -472326 Simple 760686493 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-04-28 -5.4 1.5 Likely benign 0 -472327 Simple 111387770 A . Benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-30 -11.4 1.0 Benign/Likely benign 1 -472358 Simple 1126557 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-08-03 -0.6 0.5 Uncertain significance 0 -472368 Simple 369639811 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-09-15 -0.6 0.0 Uncertain significance 0 -472372 Simple 1126697 G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-05 -0.6 0.5 Uncertain significance 0 -472373 Simple . C . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-05-18 -6.0 0.5 Likely benign 0 -472375 Simple 761201589 T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-06-09 -5.7 1.0 Likely benign 0 -472379 Simple 1042446 A . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-09-01 -6.0 0.0 Likely benign 0 -472381 Simple . G . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-09-06 -0.6 0.0 Uncertain significance 0 -472382 Simple . T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-04-05 -0.5700000000000001 1.0 Uncertain significance 0 -472395 Simple 553257776 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -472409 Simple . T . Likely benign 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-01-10 -6.0 1.0 Likely benign 0 -472416 Simple . T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-31 -0.6 0.0 Uncertain significance 0 -472424 Simple 373509391 T . Uncertain significance 2 2 Mitochondrial complex II deficiency;Paragangliomas 5;Hereditary cancer-predisposing syndrome 2017-07-10 -0.6 0.5 Uncertain significance 0 -472587 Simple 145361433 C . Likely benign 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-07-31 -8.7 0.6666666666666666 Benign/Likely benign 1 -472589 Simple 761057565 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-06-19 -0.6 0.5 Uncertain significance 0 -472594 Simple 767681165 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-07-18 -0.6 0.5 Uncertain significance 0 -472595 Simple 140825795 A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-08-24 -0.6 0.0 Uncertain significance 0 -472596 Simple 759505297 A . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-08-03 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -472597 Simple 781378161 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-11-28 -0.6 0.0 Uncertain significance 0 -472598 Simple 369396909 A . Likely benign 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-05-30 -8.7 1.0 Benign/Likely benign 1 -472603 Simple 773065220 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-02-17 -0.6 1.0 Uncertain significance 0 -472604 Simple . A . Uncertain significance 2 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-04-20 -0.87 0.6666666666666666 Uncertain significance 0 -472614 Simple 763716638 T . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-06-01 -0.6 0.0 Uncertain significance 0 -472615 Simple . G . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-02-03 -6.0 1.0 Likely benign 0 -472619 Simple 773485482 G . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-03-01 -0.6 1.0 Uncertain significance 0 -472620 Simple 770250516 C . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-04-19 -0.6 0.5 Uncertain significance 0 -472622 Simple . A . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.5 Likely benign 0 -472623 Simple . G . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-04-24 -0.6 0.5 Uncertain significance 0 -472624 Simple . A . Uncertain significance 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-03-06 -0.6 0.5 Uncertain significance 0 -472629 Simple 368209468 G . Likely benign 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-05-09 -6.0 0.0 Likely benign 0 -472631 Simple . A . Conflicting interpretations of pathogenicity 1 3 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2017-09-20 5.7 0.3333333333333333 Likely pathogenic 2 -472660 Simple 770778299 T . Uncertain significance 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-11 -0.8999999999999999 0.6666666666666666 Uncertain significance 0 -472663 Simple 765347562 T . Uncertain significance 2 2 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-08-11 -0.6 0.0 Uncertain significance 0 -472665 Simple 762654322 T . Uncertain significance 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-06-07 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -472670 Simple 762466375 A . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-10-08 -8.7 0.6666666666666666 Benign/Likely benign 1 -472678 Simple 144172190 G . Uncertain significance 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-07-18 -0.8999999999999999 0.3333333333333333 Uncertain significance 0 -472682 Simple 199608453 A . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-06-16 -9.0 0.6666666666666666 Benign/Likely benign 1 -472683 Simple 375950004 T . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-05-31 -9.0 0.3333333333333333 Benign/Likely benign 1 -472686 Simple 150494756 T . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-05-17 -9.0 0.6666666666666666 Benign/Likely benign 1 -472690 Simple 572063023 A . Uncertain significance 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-08-15 -0.8999999999999999 0.0 Uncertain significance 0 -472691 Simple 748256162 T . Likely benign 2 3 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-03-20 -9.0 0.3333333333333333 Benign/Likely benign 1 -472714 Simple 776240891 A . Pathogenic 2 2 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-09-18 12.0 0.0 Pathogenic/Likely pathogenic 1 -472716 Simple 747079481 C . Likely benign 2 2 Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome 2017-11-29 -6.0 0.0 Likely benign 0 -473437 Simple 199746481 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-10-11 -0.6 0.0 Uncertain significance 0 -473442 Simple . C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-05 -0.6 0.5 Uncertain significance 0 -473443 Simple 748536025 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-21 -6.0 0.0 Likely benign 0 -473444 Simple 775213170 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-14 -6.0 0.0 Likely benign 0 -473449 Simple 755627156 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-30 -6.0 0.5 Likely benign 0 -473451 Simple 376095661 G . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-16 -0.6 0.0 Uncertain significance 0 -473456 Simple 368303888 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-30 -0.6 0.0 Uncertain significance 0 -473457 Simple 777736640 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.0 Uncertain significance 0 -473466 Simple 545378475 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-07 -5.7 1.0 Likely benign 0 -473471 Simple 763078534 G . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-28 -6.0 1.0 Likely benign 0 -473474 Simple 267603387 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-08 -5.7 1.5 Likely benign 0 -473480 Simple 148115738 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-15 -0.6 0.5 Uncertain significance 0 -473483 Simple 762067222 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-19 -0.5700000000000001 1.0 Uncertain significance 0 -473492 Simple . A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-06 -5.7 1.0 Likely benign 0 -473494 Simple 771910847 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-09-05 -6.0 0.0 Likely benign 0 -473495 Simple 748584449 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-03 -6.0 0.5 Likely benign 0 -473498 Simple 766967355 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-18 -5.7 1.0 Likely benign 0 -473507 Simple 554997781 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-20 -6.0 0.0 Likely benign 0 -473509 Simple . . . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-16 -0.6 0.5 Uncertain significance 0 -473528 Simple 772361015 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-30 -6.0 0.0 Likely benign 0 -473539 Simple . T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-19 -0.5700000000000001 1.0 Uncertain significance 0 -473552 Simple . T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-29 -5.7 1.0 Likely benign 0 -473567 Simple 962061115 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-24 -5.7 1.0 Likely benign 0 -473568 Simple 771463033 A . Benign/Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-09 -8.7 1.5 Benign/Likely benign 0 -473569 Simple 879254126 T . Uncertain significance 2 2 not specified;Colorectal cancer, susceptibility to, 12 2017-02-15 -0.6 1.0 Uncertain significance 0 -473573 Simple 772522635 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-03 -6.0 0.5 Likely benign 0 -473586 Simple 748049159 G . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-21 -6.0 0.5 Likely benign 0 -473592 Simple . T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-08 -6.0 0.5 Likely benign 0 -473606 Simple . TCAGACC . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-04 -0.6 0.0 Uncertain significance 0 -473607 Simple 200803943 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-08 -6.0 0.0 Likely benign 0 -473612 Simple 758716323 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-30 -6.0 0.5 Likely benign 0 -473616 Simple 201738371 T . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-28 -0.5700000000000001 1.0 Uncertain significance 0 -473623 Simple 761684406 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-04 -6.0 0.5 Likely benign 0 -473626 Simple 770036124 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-19 -0.5700000000000001 1.0 Uncertain significance 0 -473630 Simple 758772641 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-06 -6.0 0.5 Likely benign 0 -473640 Simple . A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-23 -6.0 0.5 Likely benign 0 -473646 Simple . G . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-07 -0.6 0.5 Uncertain significance 0 -473674 Simple . A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-06 -5.7 1.0 Likely benign 0 -473687 Simple 1037592848 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-18 -0.6 1.0 Uncertain significance 0 -473704 Simple . T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-17 -5.7 1.5 Likely benign 0 -473708 Simple 755191548 G . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-05 -6.0 0.5 Likely benign 0 -473709 Simple . C . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-08-07 -6.0 0.0 Likely benign 0 -473711 Simple 374074035 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-11 -6.0 0.5 Likely benign 0 -473714 Simple 5744954 A . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-20 -0.6 0.5 Uncertain significance 0 -473716 Simple 200128464 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-08 -5.7 1.0 Likely benign 0 -473724 Simple 201803493 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-27 -6.0 0.5 Likely benign 0 -473740 Simple 1032264693 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-06-08 -6.0 0.5 Likely benign 0 -473751 Simple 567300887 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-25 -6.0 0.5 Likely benign 0 -473761 Simple . C . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-03 -5.7 1.5 Likely benign 0 -473773 Simple 200474862 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-16 -6.0 0.5 Likely benign 0 -473774 Simple 532175815 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-01-24 -6.0 1.0 Likely benign 0 -473779 Simple 764220093 T . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-03-16 -5.7 1.0 Likely benign 0 -473810 Simple 771312122 A . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-04-03 -5.7 1.0 Likely benign 0 -473830 Simple . G . Likely benign 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-05-24 -6.0 0.5 Likely benign 0 -473838 Simple 370727992 C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.0 Uncertain significance 0 -473847 Simple . C . Uncertain significance 2 2 Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome 2017-02-13 -0.6 1.0 Uncertain significance 0 -475012 Simple 554325914 C . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-06-22 -9.0 0.0 Benign/Likely benign 0 -475029 Simple 35536751 A . Benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-08-15 -12.0 0.5 Benign/Likely benign 1 -475032 Simple 552835784 G . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-02-23 -9.0 1.0 Benign/Likely benign 0 -475037 Simple 185651210 T . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-07-20 -6.0 0.0 Likely benign 0 -475039 Simple 776965979 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-07-27 -0.6 0.5 Uncertain significance 0 -475057 Simple 35062732 T . Benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-08-15 -12.0 0.5 Benign/Likely benign 1 -475066 Simple 202024401 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-06-27 -0.6 0.0 Uncertain significance 0 -475068 Simple 17147565 G . Benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-08-15 -12.0 0.5 Benign/Likely benign 1 -475071 Simple 776844142 C . Uncertain significance 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-06-27 -0.6 0.5 Uncertain significance 0 -475092 Simple . C . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-08-04 -6.0 0.0 Likely benign 0 -475100 Simple 148397357 C . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-08-11 -9.0 0.5 Benign/Likely benign 0 -475104 Simple 61756407 A . Likely benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-07-15 -6.0 0.0 Likely benign 0 -475106 Simple 76496261 T . Benign/Likely benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-08-04 -9.0 0.5 Benign/Likely benign 0 -475107 Simple 142704514 A . Benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-07-25 -12.0 0.5 Benign/Likely benign 1 -475114 Simple 34398311 C . Benign 2 2 Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10 2017-08-11 -12.0 0.5 Benign/Likely benign 1 -475698 Simple 761444075 . . Benign/Likely benign 2 3 Deafness, autosomal dominant 1;not specified;not provided;Seizures, cortical blindness, and microcephaly syndrome 2017-07-31 -15.0 0.6666666666666666 Benign/Likely benign 0 -475969 Simple 35268159 . . Benign 2 3 Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7 2017-07-25 -16.2 1.6666666666666667 Benign/Likely benign 1 -476446 Simple . C . Pathogenic/Likely pathogenic 2 2 Bethlem myopathy 1;not provided 2018-01-24 9.0 0.0 Pathogenic/Likely pathogenic 0 -477026 Simple . G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-10 -6.0 0.5 Likely benign 0 -477032 Simple 551460901 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.0 Uncertain significance 0 -477034 Simple 748819990 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-13 -6.0 0.0 Likely benign 0 -477036 Simple . C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-12 -0.6 0.0 Uncertain significance 0 -477048 Simple 761391603 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.0 Uncertain significance 0 -477061 Simple 531307350 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-30 -6.0 0.0 Likely benign 0 -477063 Simple 199995391 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-28 -6.0 0.0 Likely benign 0 -477072 Simple 750410087 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.0 Uncertain significance 0 -477080 Simple . C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-05 -6.0 0.0 Likely benign 0 -477081 Simple 762241036 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-22 -6.0 0.0 Likely benign 0 -477083 Simple 892971080 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-22 -0.6 0.0 Uncertain significance 0 -477090 Simple . G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.0 Uncertain significance 0 -477092 Simple 201668559 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-11 -6.0 0.0 Likely benign 0 -477101 Simple 367950170 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-20 -6.0 0.0 Likely benign 0 -477102 Simple 755375348 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.0 Uncertain significance 0 -477105 Simple . G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -6.0 0.0 Likely benign 0 -477106 Simple 201212908 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -0.6 0.0 Uncertain significance 0 -477113 Simple 139441077 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-25 -0.6 0.5 Uncertain significance 0 -477116 Simple 370692165 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-16 -6.0 0.0 Likely benign 0 -477127 Simple 148166836 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -6.0 0.5 Likely benign 0 -477129 Simple 180918578 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-08 -0.6 0.0 Uncertain significance 0 -477135 Simple 765205680 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-05 -6.0 0.5 Likely benign 0 -477139 Simple . G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-12 -6.0 0.0 Likely benign 0 -477149 Simple 141288912 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-11 -6.0 0.0 Likely benign 0 -477150 Simple 764470378 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-30 -0.6 0.0 Uncertain significance 0 -477153 Simple 776023608 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-03 -0.6 0.5 Uncertain significance 0 -477159 Simple . T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-19 -0.6 0.5 Uncertain significance 0 -477160 Simple 764415288 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-08 -0.6 0.0 Uncertain significance 0 -477161 Simple 561584807 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-04-28 -0.6 0.0 Uncertain significance 0 -477162 Simple 770390974 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-13 -6.0 0.0 Likely benign 0 -477164 Simple 560739585 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-17 -0.6 0.0 Uncertain significance 0 -477167 Simple 548255758 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-28 -0.6 0.0 Uncertain significance 0 -477168 Simple 772855134 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-15 -0.6 0.0 Uncertain significance 0 -477180 Simple . G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-26 -0.6 0.0 Uncertain significance 0 -477181 Simple . T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-08 -0.6 0.0 Uncertain significance 0 -477193 Simple . C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-19 -0.6 0.0 Uncertain significance 0 -477194 Simple 1015236844 A . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -6.0 0.0 Likely benign 0 -477198 Simple . T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-17 -6.0 0.0 Likely benign 0 -477202 Simple 200890670 G . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-04 -0.6 0.0 Uncertain significance 0 -477203 Simple 775712479 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-28 -6.0 0.0 Likely benign 0 -477207 Simple 756830706 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-02 -0.6 0.5 Uncertain significance 0 -477218 Simple 587778230 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-23 -0.6 0.0 Uncertain significance 0 -477226 Simple 368343829 T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-05 -0.6 0.0 Uncertain significance 0 -477228 Simple 760439905 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.0 Uncertain significance 0 -477241 Simple . C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-09 -6.0 0.0 Likely benign 0 -477247 Simple 371759757 T . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-19 -6.0 0.5 Likely benign 0 -477250 Simple . T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-04-11 -0.6 0.5 Uncertain significance 0 -477273 Simple 764747360 C . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-24 -0.6 0.0 Uncertain significance 0 -477274 Simple 375689793 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-11-30 -0.6 0.0 Uncertain significance 0 -477275 Simple 777225197 G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-07 -6.0 0.0 Likely benign 0 -477277 Simple . C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-20 -6.0 0.0 Likely benign 0 -477279 Simple . C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-22 -6.0 0.0 Likely benign 0 -477284 Simple . C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-15 -6.0 0.0 Likely benign 0 -477285 Simple . C . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-07-18 -6.0 0.0 Likely benign 0 -477286 Simple 566464225 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-18 -0.6 0.0 Uncertain significance 0 -477287 Simple 201358110 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-08-28 -0.6 0.0 Uncertain significance 0 -477288 Simple . G . Likely benign 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-09-09 -6.0 0.0 Likely benign 0 -477294 Simple 772431718 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-06-26 -0.6 0.0 Uncertain significance 0 -477295 Simple . T . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-05-25 -0.6 0.0 Uncertain significance 0 -477296 Simple 906299601 A . Uncertain significance 2 2 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome 2017-10-18 -0.6 0.0 Uncertain significance 0 -477301 Simple 773935854 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-27 -0.6 0.5 Uncertain significance 0 -477317 Simple 761430718 A . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-08-24 -6.0 0.0 Likely benign 0 -477321 Simple 752830820 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-12 -0.6 0.5 Uncertain significance 0 -477341 Simple 779080598 A . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-27 -6.0 0.5 Likely benign 0 -477349 Simple 553418132 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-28 -5.7 1.0 Likely benign 0 -477352 Simple 768188546 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-05 -6.0 0.5 Likely benign 0 -477375 Simple 999019810 A . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-08-11 -0.5700000000000001 1.0 Uncertain significance 0 -477383 Simple 375120544 C . Uncertain significance 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-07-03 -0.6 0.0 Uncertain significance 0 -477390 Simple 529153319 T . Likely benign 2 2 Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome 2017-06-13 -6.0 0.5 Likely benign 0 -477455 Simple 750731624 - . Pathogenic/Likely pathogenic 2 2 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy 2017-04-10 8.7 1.0 Pathogenic/Likely pathogenic 0 -477511 Simple 2229848 C . Benign 2 2 Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy 2017-08-10 -12.0 0.0 Benign/Likely benign 1 -477924 Simple 768775024 T . Uncertain significance 2 2 Aortic valve disorder;Adams-Oliver syndrome 5 2017-08-01 -0.6 0.0 Uncertain significance 0 -478166 Simple 797045929 TC . Uncertain significance 2 2 not specified;RYR1-Related Disorders 2016-09-12 -0.51 2.5 Uncertain significance 0 -478609 Simple . T . Pathogenic 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-05-04 12.0 0.5 Pathogenic/Likely pathogenic 1 -478777 Simple 876660577 A . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-04-01 -0.6 0.5 Uncertain significance 0 -478778 Simple 969395239 G . Uncertain significance 2 3 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-06-12 -0.87 0.6666666666666666 Uncertain significance 0 -478781 Simple . A . Uncertain significance 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-04-25 -0.6 0.5 Uncertain significance 0 -479383 Simple 81002846 C . Likely pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2017-10-12 6.0 0.5 Likely pathogenic 0 -480489 Simple . T . Pathogenic/Likely pathogenic 2 2 Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome 2017-07-31 9.0 0.0 Pathogenic/Likely pathogenic 0 -482673 Simple . T . Pathogenic/Likely pathogenic 2 2 Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome 2017-06-16 9.0 0.5 Pathogenic/Likely pathogenic 0 -482852 Simple 964020576 C . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2018-02-01 -0.6 0.5 Uncertain significance 0 -484744 Simple . - . Pathogenic 2 2 Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome 2017-05-11 12.0 0.5 Pathogenic/Likely pathogenic 1 -484763 Simple 771007945 A . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-12-12 9.0 1.0 Pathogenic/Likely pathogenic 0 -484764 Simple 775365939 A . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome 2016-12-12 9.0 1.0 Pathogenic/Likely pathogenic 0 -485430 Simple . - . Pathogenic/Likely pathogenic 2 2 Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome 2016-12-21 9.0 1.0 Pathogenic/Likely pathogenic 0 -485907 Simple 370124822 C . Pathogenic/Likely pathogenic 2 2 MYH-associated polyposis;Hereditary cancer-predisposing syndrome 2017-06-23 9.0 0.5 Pathogenic/Likely pathogenic 0 -486824 Simple . - . Pathogenic 2 2 Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome 2017-01-13 12.0 1.0 Pathogenic/Likely pathogenic 1 -487018 Simple 759871071 T . Uncertain significance 2 2 not specified;Hereditary cancer-predisposing syndrome 2017-08-02 -0.6 0.5 Uncertain significance 0 -487375 Simple 121909005 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487376 Simple . - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487377 Simple . - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487379 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487380 Simple . T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487381 Simple . A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487383 Simple . - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487384 Simple . - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487385 Simple . - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487386 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487387 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487388 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487389 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487390 Simple 375661578 T . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487391 Simple 397508762 A . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487392 Simple . AA . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487393 Simple . . . Pathogenic 3 2 Cystic fibrosis 2017-03-17 12.0 1.0 Pathogenic/Likely pathogenic 1 -487396 Simple . AA . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487397 Simple 797045162 CC . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487399 Simple . - . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487400 Simple . AA . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487401 Simple . . . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -487402 Simple . TT . Pathogenic 3 1 Cystic fibrosis 2017-03-17 . 0.0 . 0 -488469 Simple 773740590 T . Pathogenic 2 2 Coffin-Siris syndrome 1;not provided 2017-09-08 12.0 0.0 Pathogenic/Likely pathogenic 1 diff --git a/test/clinvar_ge_2str.txt b/test/clinvar_ge_2str.txt deleted file mode 100644 index 2ebe9bb..0000000 --- a/test/clinvar_ge_2str.txt +++ /dev/null @@ -1,55322 +0,0 @@ -487389 -487388 -487387 -487386 -267572 -254068 -254041 -220215 -220119 -219410 -219293 -216030 -209067 -209065 -209064 -209063 -209062 -209060 -209058 -209055 -209053 -209052 -209051 -209050 -209049 -209048 -91380 -91374 -91372 -91365 -91354 -91342 -91295 -91294 -91292 -91274 -91265 -91256 -91217 -91216 -91215 -91214 -91213 -91170 -91169 -91168 -91167 -91166 -91165 -91085 -91084 -91083 -91082 -91081 -91080 -90980 -90979 -90931 -90901 -90900 -90899 -90898 -90897 -90896 -90895 -90851 -90778 -90777 -90735 -90734 -90733 -90690 -90653 -90652 -90651 -90650 -90615 -90614 -90613 -90612 -90538 -90537 -90536 -90535 -90534 -90533 -90493 -90491 -90489 -90484 -90464 -90429 -90428 -90377 -90376 -90329 -90328 -90271 -90270 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-178716 -9631 -42217 -42222 -9632 -9628 -9589 -9641 -9708 diff --git a/test/predictive_interval.R b/test/predictive_interval.R deleted file mode 100644 index e22a4ba..0000000 --- a/test/predictive_interval.R +++ /dev/null @@ -1,83 +0,0 @@ -# Prediction Intervals (Non-parametric) -setwd('C:/Users/rbutl/OneDrive/Documents/NCBI Hachathon 2017/Clinotator/test/') -library(dplyr) -library(ggplot2) -big_tbl <- read.csv('clinotator.clinvar_ge_2str.tsv', header=TRUE, sep='\t', na.strings='.') - -# US distribution -US_tbl <- filter(big_tbl, grepl('Uncertain significance', CVCS) & CVNA >= 2 & CVSZ == 2) -US_dist <- sort(US_tbl$CTRS) -US_cth <- floor((0.005/2) * (length(US_dist) + 1)) -US_PI <- c(US_dist[US_cth], US_dist[length(US_dist) - US_cth + 1]) -US_quant <- quantile(US_dist, probs = c(0.001, 0.999)) - -# LP distribution -LP_tbl <- filter(big_tbl, grepl('^Likely pathogenic', CVCS) & CVNA >= 2 & CVSZ == 2) -LP_dist <- sort(LP_tbl$CTRS) -LP_cth <- floor((0.03/2) * (length(LP_dist) + 1)) -LP_PI <- c(LP_dist[LP_cth], LP_dist[length(LP_dist) - LP_cth + 1]) -LP_quant <- quantile(LP_dist, probs = c(0.02, 0.98)) - -# LB distribution -LB_tbl <- filter(big_tbl, grepl('^Likely benign', CVCS) & CVNA >= 2 & CVSZ == 2) -LB_dist <- sort(LB_tbl$CTRS) -LB_cth <- floor((0.005/2) * (length(LB_dist) + 1)) -LB_PI <- c(LB_dist[LB_cth], LB_dist[length(LB_dist) - LB_cth + 1]) -LB_quant <- quantile(LB_dist, probs = c(0.003, 0.997)) - -# P distribution -P_tbl <- filter(big_tbl, grepl('Pathogenic($|,)', CVCS) & CVNA >= 2 & CVSZ == 2) -P_dist <- sort(P_tbl$CTRS) -P_cth <- floor((0.04/2) * (length(P_dist) + 1)) -P_PI <- c(P_dist[P_cth], P_dist[length(P_dist) - P_cth + 1]) -P_quant <- quantile(P_dist, probs = c(0.02, 0.98)) - -# B distribution -B_tbl <- filter(big_tbl, grepl('Benign($|,)', CVCS) & CVNA >= 2 & CVSZ == 2) -B_dist <- sort(B_tbl$CTRS) -B_cth <- floor((0.05/2) * (length(B_dist) + 1)) -B_PI <- c(B_dist[B_cth], B_dist[length(B_dist) - B_cth + 1]) -B_quant <- quantile(B_dist, probs = c(0.03, 0.97)) - -cat('B:', median(B_dist), B_PI, 'Quant:', B_quant, '\n') -cat('LB:', median(LB_dist), LB_PI, 'Quant:', LB_quant, '\n') -cat('US:', median(US_dist), US_PI, 'Quant:', US_quant, '\n') -cat('LP:', median(LP_dist), LP_PI, 'Quant:', LP_quant, '\n') -cat('P:', median(P_dist), P_PI, 'Quant:', P_quant, '\n') - -##Final Calibration Values -# -6, -3, -0.3, 3, 6 -# B: -12 -39 -8.4 Quant: -37.2 -8.4 -# LB: -6 -24 -4.2 Quant: -23.7 -4.2 -# US: -0.6 -2.55 -0.39 Quant: -2.71 -0.36 -# LP: 6 4.2 15 Quant: 4.2 12.018 -# P: 12 8.4 37.2 Quant: 8.4 37.2 - -## Initial Testing -# -5, -3, -0.3, 1.6, 2.9 -# B: -10 -43.5 -6 Quant: -38 -6.5 -# LB: -6 -21 -4.5 Quant: -17.7 -4.5 -# US: -0.6 -2.37 -0.42 Quant: -2.1 -0.45 -# LP: 3.2 1.6 10.08 Quant: 2.08 8 -# P: 5.8 2.9 25.23 Quant: 3.48 22.04 - -# -5.5, -2.9, -0.3, 2, 4 -# B: -11 -47.85 -6.6 Quant: -41.8 -7.15 -# LB: -5.8 -20.3 -4.35 Quant: -17.11 -4.35 -# US: -0.6 -2.37 -0.42 Quant: -2.1 -0.45 -# LP: 4 2 12.6 Quant: 2.6 10 -# P: 8 4 34.8 Quant: 4.8 30.4 - -# -6.5, -3.9, -0.3, 3, 5 -# B: -13 -56.55 -7.8 Quant: -49.4 -8.45 -# LB: -7.8 -27.3 -5.85 Quant: -23.01 -5.85 -# US: -0.6 -2.37 -0.42 Quant: -2.1 -0.45 -# LP: 6 3 18.9 Quant: 3.9 15 -# P: 10 5 43.5 Quant: 6 38 - -# -8, -5, -0.3, 6, 8 -# B: -16 -69.6 -9.6 Quant: -60.8 -10.4 -# LB: -10 -35 -7.5 Quant: -29.5 -7.5 -# US: -0.6 -2.37 -0.42 Quant: -2.1 -0.45 -# LP: 12 6 37.8 Quant: 7.8 30 -# P: 16 8 69.6 Quant: 9.6 60.8 diff --git a/test/test.tbl b/test/test.tbl deleted file mode 100644 index 6e3c246..0000000 --- a/test/test.tbl +++ /dev/null @@ -1,9 +0,0 @@ -VID CVVT RSID CVMA vcfmatch CVCS CVSZ CVNA CVDS CVLE CTRS CTAA CTWS CTRR -262232 Simple 34376836 A . Benign 2 1 Brown-Vialetto-Van Laere syndrome 1;not specified 2017-06-07 -5.0 0.0 Likely benign Inconsistent result-under construction -211895 Simple 766877230 T . Uncertain significance 2 2 not specified 2016-11-02 -1.0 1.5 Uncertain significance Consistent Classification -55794 Simple 180177040 G . Likely pathogenic 0 0 Malignant melanoma of skin;Multiple myeloma;Adenocarcinoma of lung;Colorectal Neoplasms;Papillary renal cell carcinoma, sporadic;Ovarian Serous Cystadenocarcinoma 2016-05-31 0.0 . Uncertain significance Inconsistent result-under construction -50317 Simple 118161496 C . Conflicting interpretations of pathogenicity 1 4 not provided;Inborn genetic diseases 2017-08-14 7.5 1.75 Likely pathogenic Inconsistent result-under construction -13979 Simple 180177040 C . Pathogenic 3 4 Cardiofaciocutaneous syndrome 1;not provided;Rasopathy;Cardio-facio-cutaneous syndrome 2017-04-03 19.5 1.25 Pathogenic Consistent Classification -7 Haplotype 200401432 A ['200401432|A', '118161496|C'] Pathogenic 1 1 Mitochondrial complex I deficiency 2014-04-09 4.5 3.0 Likely pathogenic Inconsistent result-under construction -7 Haplotype 118161496 C ['200401432|A', '118161496|C'] Pathogenic 1 1 Mitochondrial complex I deficiency 2014-04-09 4.5 3.0 Likely pathogenic Inconsistent result-under construction -